Tourette’s syndrome is a neurological disorder that effects certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells.The disorder is named for Dr. Georges Gilles de la Tourette, the neurologist who in 1885 first described the condition in an 86-year-old woman. He summarized it as a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics.The exact cause of Tourette’s is unknown, but it is well known that both genetic and environmental factors are involved. Genetic epidemiology studies have shown that the majority of cases of Tourette’s are inherited, although the exact mode of inheritance is not yet known as no gene has been identified. In other cases, tics are associated with disorders other than Tourette’s, a phenomenon known as tourettism, such as OCD (obsessive Compulsive Disorder) and ADHD (Attention Defeicit Hyperactive Disorder).

Signs and symptoms of Tourette syndrome typically show up between ages 2 and 12. Males are about three to four times more likely than females to develop Tourette syndrome.It involves unusual repetitive movements or unwanted sounds that can’t be controlled (tics). You may repeatedly blink your eyes, shrug your shoulders or jerk your head, or you might unintentionally blurt out offensive words.

You can live a normal life span with Tourette’s syndrome, and many people don’t need treatment when symptoms aren’t troublesome. Symptoms often lessen or become quiet and controlled after the teen years.

While there is no known cure for Tourette’s Syndrome here at COEM we treat using multiple techniques.

1. Reduce the allergic load
2. Look for mineral depletion
3. Eradicate over growth of yeast from the body
4. Look for a bacterial infection or over growth

To prepare for your appointment you will want to come off any antihistamines 48 hours before your visit, to allow for accurate allergy testing. Also make sure to bring with you copies of any recent tests and bloodwork performed, along with your new patient packet.

References

www.tsa-usa.org

National Institute of Neurological Disorders and Stroke. www.ninds.nih.gov

Sjogren’s syndrome (pronounced Show- grins) is an auto immune disease – a disease in which the immune system turns against the body’s own cell. Sjögren’s syndrome is also known as “Mikulicz’s disease” and “Sicca syndrome”.

In Sjorgren’s Syndrome (SS) the immune system attacks the moisture producing glands and causes dryness in the mouth and eyes. In some cases, other parts of the body can be affected as well, resulting in multiple possible symptoms.It was first identified by a Swedish physician, Dr. Henrik Sjögren in 1933.

The immune system is responsible for protecting the body from various diseases by destroying harmful invaders like viruses and bacteria. In SS, the immune system attack the glands that produce tears and saliva (the lacrimal and salivary glands). Damage to these glands keeps them from working properly and causes dry eyes anddry mouth. Dry eyes are called kerato-conjunctivitissicca, or KCS, and dry mouth is called xero-stomia. This disease can affect other glands too, such as the glands in the stomach, pancreas, and intestines, and can cause dryness inother places that need moisture, such as the nose, throat, airways, and skin. Since, SS causes inflammation in joints,muscles, skin, or other body tissue, it is considered to be a rheumatic disease. Sjögren’s is also considered a disorder of connective tissue, which is the framework of the body that supports organs and tissues (joints, muscles, and skin).

Between 400,000 to 3.1 million Americans, i.e. about one to two percent of the population is affected by Sjogren’s syndrome. It generally affects people between 45 and 55 years old, although it can affect anyone regardless of age. It is also found mostly in women – women are 10 times more likely to have Sjögren’s than men.

Causes

While it’s not known exactly what causes Sjogren’s syndrome, a combination of the following may be to blame:

• Abnormal immune response
• Sex hormones
• Inheritance or genetics
• Environment (although the exact environmental factors aren’t known)

It is classified in the following :

• Primary – The syndrome is developed by itself and not as the result of another condition. For example, certain people are born with specific genes that make them more vulnerable to a faulty immune system. Then, many years later, an environmental factor, possibly a common virus, triggers the immune system to stop working properly.
• Secondary – The syndrome is developed in combination with another autoimmune disorder, such as lupus or rheumatoid arthritis

The causes are listed as below –

• Autoimmune Factor – Salivary glands that produce saliva exist in “grape-like” clusters. There are no or few lymphocytes in the normal salivary gland but are present in Sjogren’s syndrome. Lymphocytes are part of the immune system that normally protect the body from infection and tumors.When they appear to attack the body’s tissue (as in Sjögren’s syndrome, systemic lupus, or in rheumatoid arthritis), the term “autoimmunity” is used. Lymphocytes originate in the bone marrow. Two types of lymphocytes, termed “T cells” and “B cells” are responsible for mediating immune reactions. The entire lymphoid system is precisely regulated, largely by messenger molecules that instruct cells to “turn on” or “turn off.” Autoimmunity, the excessive reaction against one’s own tissues, then results from a failure of the normal regulation of T cells and B cells. This may be due either to an excessive production of helper signals or a failure to respond to suppressor signals. As a consequence, lymphocytes infiltrate the tissues and attack normal cellular structures.

• Virus & Infections – Studies suggest that a virus is involved. One possible candidate is the Epstein-Barr virus (EBV), which causes infectious mononucleosis, a condition characterized by swollen salivary glands, joint aches and fatigue. Virtually all adults have been infected with EBV by age 20 years. After the initial infection, this virus normally resides in the salivary glands for life but causes no problems. We and others have speculated that this virus (or a closely-related virus) may trigger an autoimmune response in genetically susceptible individuals.

It is thought that an as yet unknown infectious agent damages the salivary gland and attracts the “immune” lymphocytes into the salivary gland. These lymphocytes release specific autoantibodies such as rheumatoid factor (RF) and antinuclear antibodies; antibodies are directed against proteins termed Sjögren’s-associated antigens A and B (or SS-A and SS-B). These antibodies can enter the bloodstream and are measured in the blood tests that we obtain to confirm the diagnosis of Sjögren’s syndrome.

• Hereditary Factor – Particular genes (such as human leukocyte antigen or HLA genes) are inherited in the same manner from parents as are genes for hair color or eye color; that is, one gene from each parent. The HLA genes are important in controlling the immune response and many current research studies are trying to determine exactly how they perform this task. A specific gene named HLA-DR3 is found in high frequency in Caucasian patients with primary Sjögren’s syndrome.

• Evironmental Factors – These include:
  • Toxic Metal Exposure – Studies have shown that exposure to toxic metals such as mercury, cadmium, lead, arsenic, aluminum, nickel and other heavy metals can be linked to the autoimmune process: The heavy metals induce autoantibodies, which then create autoimmune diseases, including Sjogren’s syndrome. These free radicals then alter the body’s pH (which must be kept constant). An altered pH allows viruses, bacteria, candida and other pathogens to thrive, which then sets the stage for more free radicals. The free radicals damage the cells, making it impossible for the cells to communicate with each other. Autoimmunity results when the immune system attacks the damaged cells.
  • Toxic Chemical Exposure – Toxins such as pesticides, solvents, industrial chemicals, even household cleaners and hair dyes are being implicated in autoimmune diseases. These toxins are everywhere, and they greatly increase the risk of all diseases in general.
  • Smoking – Smoking increases the risk of several autoimmune diseases, primarily because of the chemicals in cigarettes.

• Nutritional Deficiencies – Poor diet is an important factor in autoimmunity because poor nutrition compromises the immune system. Processed foods are loaded with chemicals, hormones, steroids, trans-fats and sugars, which promote the creation of free radicals in the body, which in turn damage the cells.

Symptoms

The main symptoms are

• Dry eyes—Your eyes may be red and burn and itch.People say it feels like they have sand in their eyes.Also, your vision may be blurry, and bright light,especially fluorescent lighting, might bother you.
• Dry mouth—Dry mouth feels like a mouth full ofcotton. It’s difficult to swallow, speak, and taste.Your sense of smell can change, and you may developa dry cough. Also, because you lack the protectiveeffects of saliva, dry mouth increases your chances ofdeveloping cavities and mouth infections.

Both primary and secondary Sjögren’s syndrome can affectother parts of the body as well, including the skin, joints,lungs, kidneys, blood vessels, and nervous system, and causesymptoms such as –

• Dry skin
• Skin rashes
• Thyroid problems
• Joint and muscle pain
• Pneumonia
• Vaginal dryness – painful sexual intercourse
• Numbness and tingling in the extremities

When Sjögren’s affects other parts of the body, the condition is called extraglandular involvement because the problems extend beyond the tear and salivary glands. Finally, Sjögren’s can cause extreme fatigue that can seriously interfere with daily life.

Less common features of Sjögren’s syndrome are:

• Irritation of the nerves in the arms, hands, legs, or feet (neuropathy)
• Feeling of numbness or tingling
• Thyroid gland abnormalities
• Skin rashes
• Memory loss, difficulty concentrating or confusion
• Gastrointestinal problems, such as acid reflex, bloating, abdominal pain, or diarrhea
• Inflammation of the lungs, kidneys (unlike lupus nephritis), liver, or pancreas
• Cancer of the lymphatic tissue (occurs in up to 5% of patients with the disease)

Treatment

The goals of treatment are to decrease discomfort and reduce the harmful effects of dryness. Generally, physicians use medications to control symptoms (symptomatic treatment). The type of treatment will be tailored to each patient’s symptoms and needs.

• Good oral hygiene – Good mouth/dental care may prevent or reduce dental decays, infections, or tooth loss:
  • Toothpastes (biotene type) and oral gels are available for people with dry mouth                                 symptoms. These products may also have antibacterial action to reduce the severity of dental cavities over a long period of time.
  • Chewing sugar-free gums can be helpful.
  • Taking frequent sips of water without swallowing (spitting it out) may improve dry mouth.

• Increasing Eye Moisture–
  • Dry eyes are mainly treated with the use of artificial tears. A wide variety of over-the-counter products is available. Artificial tears can be used regularly and more often in dry environmental conditions such as on airplanes, in air-conditioned buildings, and on windy days.
  • While artificial tears are helpful, they often do not last long enough. Thicker                 preparations (gel form) that last longer are available. These are often used at bedtime because they can sometimes cause blurry vision. Eye doctors can prescribe an eye drop called Restasis to treat more severe form of dry eyes. A small procedure called punctal plugs, to slow the disappearance of tears, is another treatment option when artificial tears are not sufficient.

• Medications – Medications that tend to reduce body fluids should be avoided.
  • Mild pain-relieving medications (analgesics), includingacetaminophen, such as Tylenolor non-steroidal anti-inflammatory drugs – NSAIDs, such as Motrin and Aleve, can reduce muscle or joint pain.
  • In some patients, the anti-rheumatic drug hydroxychloroquine has been beneficial in decreasing pain and salivary gland swelling and improving fatigue, muscle pain, joint pain, or rash. This drug generally does not help with dry symptoms, however.
  • For patients with internal organ symptoms (particularly when the disease affects internal organs), steroids and immunosuppressive medications may be used. These include medicines such as prednisone (a steroid) and, rarely, chemotherapy-type medications.
  • Systemic corticosteroids and/or immunosuppressive agents like cytotoxic drugs have been used for various extra glandular symptoms of SS, such as: vasculitis, lung involvement kidney involvement. However, cytotoxic agents should be used with great care as they may increase the risk of lymphoma.
  • Water-based vaginal lubricants (K-Y Jelly, Astroglide, Replens, Luvena) can ease vaginal dryness and painful intercourse. Estrogen creams or other preparations may be helpful for women who have vaginal dryness due to reduced estrogen levels related to menopause.

It is important to know that the medications also involve numerous side effects that can prove harmful and may result in creating additional complications.

• Balance of rest and exercise – Guided exercise programs can help patients overcome fatigue, maintain flexibility, and overcome joint and muscle pain. Good sleep hygiene is helpful for improving fatigue and body pain.

Alternative Treatment

Alternative medicine definitely has more treatment options. The model of simply fixing the gut, stabilizing the blood sugar level, balancing the hormones, taking enough essential fatty acids and anti-inflammatory protocols, and so forth, are effective. However, they are not any different than treating any type of autoimmune disorders.

• Detoxification Therapy – Detoxification thrapy utilizes clinical procedures that safely reduce the body’s burden of toxic chemicals, including chemicals stored following occupational, accidental, and/or chronic airborne exposures. Chemicals bind to human tissues on the basis of their lipophilic properties — meaning literally “attracted to fats.”
• Green tea and EGCG for Sjogren’s syndrome – Green tea polyphenols reduce autoimmune symptoms in a murine model for human Sjogren’s syndrome and protect human salivary acinar cells from TNF-alpha-induced cytotoxicity.Green tea contains several antioxidants that have been shown to curb inflammation, prevent cell death, and possibly even ward off cancer.EGCG reduced the severity and delayed the onset of salivary gland damage associated with Sjogren’s syndrome.
• Fish oils, Wheat Germ oil &flax seeds – Effect of omega-3 and vitamin E supplementation on dry mouth in patients with Sjögren’s syndrome.Omega3 Fatty acid rich fish oil (FO) and vitamin E may delay the progress of certain autoimmune diseases.omega-3 (n-3) increases saliva production in patients with Sjögren’s syndrome. Wheat germ oil helps in stimulating saliva production in patients with Sjögren’s syndrome.
• DHEA -Low serum levels of sex steroids are associated with disease characteristics in primary Sjogren’s syndrome; supplementation with dehydroepiandrosterone restores the concentrations. It also helps in stimulating saliva production.
• Flavonoids -Plant-derived flavonoids are inhibitors of various intracellular processes, notably phosphorylation pathways, and potential inhibitors of cellular autoimmunity. This includes – apigenin and luteolin, fisitin, quercetin, morin and hesperitin. It acts as strong inhibitors for T cells.
• Rose hip herbal remedyfor SS, Probiotic for gut
• Vitamin D – Vitamin D inhibits pro-inflammatory processes by suppressing the enhanced activity of immune cells that take part in the autoimmune reaction. Supplementation may be therapeutically beneficial particularly for Th1 mediated autoimmune disorders. Some reports imply that vitamin D may even be helpful in multiple sclerosis and diabetes type 1.

Integrated Treatment

Integrated medical practitioners treat the whole body as a single system and work with interdependent, oscillating energies and seek to achieve balance and integration of the entire body. There are natural, non-invasive, and wholistic approaches that incline toward discovering the imbalances, and integrate to correct them through diet and nutrition, exercise, acupuncture, massage, and individual customized education.

With the variety of symptoms that encompass Sjogren’s syndrome, it is very important to have a plan and helpful practitioner who works with full oversight and a set of complimentary skills under one roof, i.e. our center.

Scleroderma, also known as systematic sclerosis, is a chronic auto immune rheumatic disease. It affects skin and connective tissues of the body, which means that it is a condition where the body’s immune system acts abnormally. Hardening of the skin is one of the most visible effect of the disease. It also involves inflammation and scarring of many body parts, leading to problems in the lungs, kidneys, heart, intestinal system and other areas. Scleroderma is not contagious, infectious, cancerous or malignant.

The word “scleroderma” comes from two Greek words: “sclero” meaning hard, and “derma” meaning skin. The disease has been called “progressive systemic sclerosis,” but the use of that term has been discouraged as it has been found that scleroderma is not necessarily progressive. The disease varies from patient-to-patient.

Scleroderma is a rare disease. It is more common in women than men. Anyone can get it, even children. About 75,000 to 100,000 people in the U.S. have this disease.

Types of Scleroderma

There are two types of Sclerodera and each are sub classified.

Localized Scleroderma

The changes, which occur in localized scleroderma, are usually found in only a few places on the skin or muscles, and rarely spread elsewhere. It is relatively mild in nature. The internal organs are usually not affected, and persons with localized scleroderma rarely develop systemic scleroderma. It is classified in two types :

• Morphea

Morphea is a form of localized scleroderma characterized by waxy patches on the skin of varying sizes, shapes and color. The skin under the patches may thicken. The patches may enlarge or shrink, and often may disappear spontaneously. It mostly occurs between the ages of 20 and 50, but is often seen in young children.

• Linear scleroderma

It is a form of localized scleroderma which frequently starts as a streak or line of hardened, waxy skin on an arm or leg or on the forehead. Sometimes it forms a long crease on the head or neck, referred to as en coup de sabre because it resembles a saber or sword wound. This type tends to involve deeper layers of the skin as well as the surface layers, and sometimes affects the motion of the joints, which lie underneath and usually develops in childhood.

Systemic scleroderma (systemic sclerosis)

The changes occurring in systemic scleroderma may affect the connective tissue in many parts of the body. Systemic scleroderma can involve the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart and other internal organs. It can also affect blood vessels, muscles and joints. It involve –

• Limited Scleroderma – CREST Syndrome

Limited scleroderma means only limited areas of skin are thick; usually just the fingers and/or face. Limited scleroderma is the milder form of scleroderma. The CREST syndrome is a type of limited scleroderma. CREST stands for the following:

• C – is for the calcium deposits under the skin and in tissues (calcinosis)
• R – for Raynaud’s phenomenon.
• E – esophageal dysmotility. This causes heartburn, which is often experienced by CREST patients.
• S – is for sclerodactyly; that means thick skin on the fingers.
• T – is for telangiectasias, which are enlarged blood vessels. These appear as red spots on the face and other areas.

Limited scleroderma causes less involvement of body organs than the more severe form. Some patients can develop lung and heart disease.

• Diffuse Scleroderma

This type of scleroderma is called diffuse scleroderma. It means that more areas of the skin are involved and thickened, but there is a high degree of variability among patients. Skin of the arms, legs, and trunk are more likely to be involved. The tightened skin makes it difficult to bend fingers, hands, and other joints. There is sometimes inflammation of the joints, tendons and muscles. Tight skin on the face can reduce the size of a person’s mouth and make good dental care very important.

Diffuse scleroderma can have associated involvement of internal organs such as the gastrointestinal tract, heart, lungs, or kidneys. The degree of organ involvement is highly variable – some get none at all and other patients organs may be badly affected.

Causes

The cause of scleroderma is not known. We don’t yet know why people’s immune system becomes overactive and initiates excessive production of collagen or the reason for blood vessel abnormalities; but it is thought to be a combination of genetic and environmental factors.

Environmental Factors –

• Toxic Exposure – Exposure to cadmium, mercury (dental amalgam), solvents (such as paint thinners), radiation, and silica as either known or suspected causes of autoimmune diseases or scleroderma.
• Artificial Joints and Silicon Implants – Some cases of connective tissue disease, such as scleroderma, related to artificial joints or silicone breast implants.
• Asbestos – Asbestos is relatively harmless. However, when asbestos is become dry and brittle or is ground or broken up, the fibers become airborne and can be ingested through the mouth or inhaled through the lungs. As a result, once inhaled or ingested, asbestos fibers often remain in the body and can cause a multitude of medical problems like Scleroderma, lung cancer etc.
• Air Pollution – Diseases such as scleroderma may be triggered by the inhalation of chemical solvents, herbicides and silica.
• Drugs & Medications – Some medications and street drugs are known or thought to induce scleroderma or Raynaud’s, such as Bleomycin, Cocaine, Marijuana, and Paclitaxel (Taxanes).

Genetic Factors

Research has demonstrated that systemic sclerosis is a polygenic (involving more than one gene) autoimmune (involving the immune system response) disease. Several genes and gene-gene interactions have been identified as playing a role in systemic sclerosis.

Inflammatory Response and Autoimmunity

The disease cause leading to scleroderma seems to occur as an autoimmune response, in which an abnormal immune system attacks the body itself. In scleroderma, this response produces swelling (inflammation) and too much production of collagen. Collagen is the tough protein that helps build connective tissues such as tendons, bones, and ligaments. Collagen also helps scar tissue form. When normal tissue from skin, lungs, the esophagus, blood vessels, and other organs is replaced by this type of abnormal tissue, none of these body parts work as well, and many of the symptoms previously described occur.

Other Factors

• Proteins – Increased amount of S100A8 (calcium- and zinc-binding protein) and S100A9 (Calcium Binding Protein) in patients with diffuse coetaneous systemic sclerosis. A correlation with organ involvement and immunological abnormalities. These two proteins may play important roles in the development of systemic sclerosis.
• Oxidative Stress- Lipid Peroxidation – Oxidative Stress is an imbalance between pro-oxidants and antioxidants that can result in cellular degeneration.
• Gluten – Studies suggest, of several rheumatological disorders , including Raynaud’s phenomenon in people with celiac disease, but this seems to be the first report of extensive microvascular damage, similar to capillary changes in scelroderma, documented by nailfold capillaroscopy in a patient with celiac disease.
• Thyroid – It is common for people with systemic scleroderma to also have other health problems, and thyroid disease can often be associated with it. However, thyroid disease is very common in the general population, whereas systemic scleroderma is very rare, and thyroid disease is not considered to be a symptom of any type of scleroderma.
• B and T Cells – B and T cells are white blood cells that help stimulate an immune response to infections. In the thymus gland, lympohocytes are matured into these cells. Sometimes these cells become overactive, which is suspected as being part of the process that leads to autoimmune diseases like Scleroderma.

Symptoms

Symptoms vary greatly from person to person depending on what part of the body is involved.

For some people, following symptoms are among the early signs of scleroderma:

• Raynaud’s phenomenon – The fingers or toes turn white, then blue in the cold, and then red as blood flow returns. This is caused by narrowing of the blood vessels. It is possible to have Raynaud’s without having scleroderma, but most people with scleroderma will have symptoms of Raynaud’s at some time and it’s often one of the first symptoms to appear.
• Thickening and hardening of the skin on the hands, arms and face
• Stiffness and pain in the muscles and/or joints
• Swelling of hands and feet, especially in the morning
• Thinning of the pads at the finger tips
• Small white chalky lumps (calcium deposits) under the skin
• Indigestion or heartburn
• Diarrhoea or constipation
• Shortness of breath or reduced ability to exercise
• Kidney problems and high blood pressure
• Gut Problems – The gastrointestinal (GI) tract is primarily responsible for the processes of digestion and excretion, and is frequently affected by manifestations of Scleroderma.
• Dryness – It is characterized by a decrease in secretions of the tear glands and the salivary glands, which provide lubrication for the eyes and mouth. The unusual dryness of the eyes resulting from this condition can lead to serious irritation and inflammation. Excessive dryness of the mouth may lead to difficulties in swallowing and speaking, a pronounced increase in tooth decay and cavities, and a reduced sense of taste. Dryness may also involve vagina and other areas of the body.

Related Complications

• Digestive Systems – Digestive problems associated with scleroderma can lead to acid reflux and difficulty swallowing — some describe feeling as if food gets stuck midway down the esophagus.
• Heart – Scarring of heart tissue increases the risk of abnormal heartbeats (arrhythmias) and congestive heart failure, and can cause inflammation of the membranous sac surrounding the heart (pericarditis). Scleroderma also can raise the pressure on the right side of the heart and cause it to wear out.
• Teeth – Severe tightening of facial skin can cause the mouth to become smaller and narrower, which may make it hard to brush teeth or to even have them professionally cleaned.
• Kidneys – When scleroderma affects the kidneys, it can develop an elevated blood pressure and an increased level of protein in the urine.
• Lungs – Scarring of lung tissue (pulmonary fibrosis) can result in reduced lung function, reduced ability to breathe and reduced tolerance for exercise.
• Sexual function – Men who have scleroderma often experience erectile dysfunction. Scleroderma may also affect the sexual function of women, by decreasing sexual lubrication and constricting the vaginal opening.
• Gut – Evidence suggests that the involuntary muscle of the gastrointestinal tract (smooth muscle) can be affected in scleroderma. When this muscle is involved, abnormal motor function of the esophagus, stomach, small or large bowel results.

Treatment

• Medications

Calcium-channel blockers are the standard drugs to open the blood vessels, and may be used for pulmonary artery hypertension and Raynaud’s phenomenon. This may involve – diltiazem (Cardizem, Dilacor), dihydropyridine medications (felodipine, amlodipine, and isradipine).

Side effects may include fluid buildup in the feet, constipation, fatigue, gingivitis, erectile dysfunction, flushing, and allergic symptoms.

• ACE Inhibitors –

Many medications are available for controlling blood pressure, but ACE inhibitors appear to be the most effective for scleroderma patients because of their protective actions in the kidney. This includes – captopril (Capoten), enalapril (Vasotec), quinapril (Accupril), benazepril, and lisinopril (Prinivil, Zestril). Side effects may include irritating cough, large drops in blood pressure, and allergic reactions.

• Angiotensin Receptors – This involves losartan, candesartan cilexetil, and valsartan. They have positive effects on blood vessels. Small studies showing improvement in Raynaud’s phenomenon warrant further research.
• Nitrates – Nitrates relax smooth muscles and open arteries, and are therefore sometimes used for the short-term management of Raynaud’s phenomenon. Side effects of nitrates include headaches, dizziness, nausea, blurred vision, fast heartbeat, and sweating.
• Cyclophosphamide (Cytoxan) – Cyclophosphamide is the most important immunosuppressant currently used for scleroderma. It blocks some of the destructive actions of scleroderma in the lungs. Intravenous cyclophosphamide can be life-saving for patients with pneumonia caused by interstitial lung disease. Side effects may include – hair loss, infection, and bleeding into the urinary tract.
• Other Drugs – D-penicillamine (which may be useful for skin symptoms), methotrexate (Rheumatrex), sirolimus (rapamycin), antithymocyte globulin (ATG), corticosteroids, cyclosporine A, and chlorambucil (Leukeran). All of these drugs have potentially severe side effects.

Surgeries

• Sympathectomy and Hand Surgeries – This uses procedures that block or remove the nerve responsible for narrowing blood vessels in the hand. The result is increased blood flow in the hand.
• Other Surgeries – Disabling deformity of the hand is a common feature of scleroderma. Various surgical procedures can relieve pain, prevent tissue loss, protect hand function, and improve the appearance of the hands.

Alternative Treatment

Environmental Medicine is a branch of medicine whose domain is not limited by anatomical boundaries but, rather, is concerned with the whole person and the way that a person reacts to his/her total environment. At our center we first carry out Comprehensive Approach of studying the patient’s medical history, where we are able to get hold of the root cause and treat accordingly.

• Bio-detoxification Programme – The Center’s Bio-detoxification Program utilizes clinical procedures that safely reduce the body’s burden of toxic chemicals, including chemicals stored following occupational, accidental, and/or chronic airborne exposures.
• Alka Vita Supplements – This has the tremendous advantage that it alkalises, therefore increases oxygenation, counteracts free radical attack and damage and therefore undermines the basis of disease. It is also directly ‘anti-septic’ against fungal infections, including Candida and possibly all harmful micro-organisms and parasites, although there is not enough information on this, we do know that all anaerobic infections (the harmful ones) are attacked by free electrons that Alka- vita supplies and are eventually destroyed or severely limited by an alkaline environment.
• AA and DHA – The essentiality of arachidonic acid (AA) and docosahexaenoic acid (DHA), when dosed appropriately, fish oil-based lipid emulsions contain sufficient essential fatty acid (EFAs) to prevent essential fatty acid deficiency.
• Curcumin (Tuermeric) – The varied biological properties of curcumin and lack of toxicity even when administered at higher doses makes it attractive to explore its use in various disorders like tumors of skin, colon, duodenum, pancreas, breast and other skin diseases.
• Vitamin B – A growing body of research is drawing a link between low B12 and early cognitive decline, a condition that often leads to auto immune disease.
• Probiotics – Yogurt may be helpful for combatting bowel involvement with systemic scleroderma, especially small bowel bacterial overgrowth. It may also be particularly helpful when taking antibiotics.
• Lipioc acid – Dihydrolipoic acid (DHLA) not only acts as an antioxidant but also an antifibrotic since it has the ability to reverse the profibrotic phenotype of Sclerodermal fibroblasts.
• Vitamins & Minerals – Different Vitamins are essential to aid the immune system and many biochemical processes including the utilisation of calcium and magnesium. Its deficiency is almost universal in northern climates and even more so since the introduction of sun screen. Its deficiency has been linked strongly to auto-immune diseases. Zinc has critical effect in homeostasis, immune function, oxidative stress, apoptosis, aging and in chronic diseases, including atherosclerosis, several malignancies, neurological disorders, autoimmune diseases. Vitamin D is essential for promoting calcium absorption in the gut, build and preserve bone, helps prevent osteoporosis and helps decrease fracture risk.
• Herbs – Herbs such as Cleavers and Red Clover help to cleanse toxins from the lymphatic system and to purify the blood, allowing much needed nutrients to reach the skin and tissues.

Referneces –

www.sclero.org

www.medicinenet.com

www.hopkinsscleroderma.org

www.mayoclinic.org

www.raynauds.org.uk

www.rheumatology.oxfordjournals.org

www.arthritis-research.com

www.todaysdietitian.com

www.scleroderma.ca

www.aarda.org

www.niams.nih.gov

Rheumatoid Arthritis is a chronic disease whereby various joints in the body are inflamed, leading to stiffness, pain, swelling and the possible loss of function. It usually affects the joints symmetrically i.e. on both the sides equally and may initially begin in couple of joints only and most frequently attacks knees, ankles, shoulders, wrists and hands.
Rheumatoid Arthritis is an autoimmune disease in which the body’s immune system – which generally protects its health by attacking foreign substances like viruses and bacteria – mistakenly attack the joints and other tissues causing chronic inflammation. The immune system contains complex organization of cells and anti bodies designed normally to find and destroy the invaders of our system, particularly infections. Though inflammation of the tissue around the joints and inflammatory arthritis are characteristics of rheumatoid arthritis, the disease also causes inflammation and injury to other organs of the body. As it can affect multiple other organs of the body, rheumatoid arthritis is referred to as a systemic (body-wide) illness and sometimes is also known as rheumatoid disease. Rheumatoid arthritis that affects children under 16 years of age is referred as juvenile idiopathic arthritis.

• The process of disease leading to rheumatoid arthritis begins with synovium – the tissues that lines the inside of joints and around the joins that makes a fluid that lubricates joints making them move smoothly creating a protective sac.
• In addition of lubrication of joints, this fluid also supplies nutrients and oxygen to cartilage, a slippery tissue that coats the ends of bones; it composes of collagen – the structural protein in the body that forms a network to give support and flexibility to joints.
• In rheumatoid arthritis, an affected immune system produces destructive molecules that cause continuous and harmful inflammation of synovium. Gradually, the collagen is destroyed, hence narrowing the joint space and eventually damaging bone.
• If the disease develops into a form called progressive rheumatoid arthritis, the destruction process accelerates.
• Fluid and immune system cells gathers in synovium, producing a pannus – a growth composed of thickened synovial tissues. With the development of the disease, the pannus produces more enzymes that destroy nearby cartilage, aggravating the area and attracting more inflammatory white cells, thereby perpetuating the process.

Causes

The exact causes of Rheumatoid arthritis are still not known, but this condition is most likely triggered by a combination of factors such as abnormal autoimmune response, inflammatory process, genetic factors and at times environmental or biological factors like viral infections and/or hormonal changes.

• Abnormal Autoimmune Response & Inflammatory Process
  The immune system helps the body to fight and respond to the foreign substance and antigens – a substance that induces the formation of antibodies, since it is recognized as a threat by our immune system – like toxins and viruses. It helps the body fight these infections and accelerates the healing of wounds and injuries. The inflammatory process is an outgrowth of the immune system. There are two main components of the immune system that are associated with rheumatoid arthritis, namely, B cells and T cells, both belonging to a group of immune cells called lymphocytes – a type of white blood cell.
  If the T cell recognizes an antigen as “non self”, it will result in producing chemicals (cytokines) which in turn causes B cell too multiply and release many antibodies (immune proteins). These antibodies spread in the bloodstream, and help identifying foreign substances and ultimately causing inflammation in order to get rid of these invaders of the body.
  For unknown reasons, these T cells and B cells become over active in patients with Rheumatoid Arthritis.
• Genetic Factors
  Genetic Factors may play a significant role in either increasing the chances of developing RA condition or by worsening the process of the disease. The key genetic marker of RA is Human Leukocyte Antigen (HLA). HLA is not responsible is the development of Rheumatoid arthritis, but they can worsen the condition once developed. Other than that, STAT4 – a gene that plays an important role in the regulation and activation of immune system; TRAF1 and C5 – genes relevant to chronic inflammation; and PTPN22 – gene associated with both development and progression of RA, are connected to Rheumatoid Arthritis. Yet not all people with these genes develop RA and not all RA patients have these genes.
• Environmental Factors
  These factors include infectious agents like bacteria and viruses which may trigger the development of the disease in a person who is more likely to get RA. Research shows that factors like obesity, physical or emotional stress, exposure to cigarette smoke, air pollution, harmful chemicals, occupational exposure to mineral oil, silica etc.

Symptoms

Researchers have proven that about 1.3 million Americans e affected by Rheumatoid Arthritis. Although RA can develop in any age from childhood to old
age, it normally begins between the ages of 30 – 50 years. Women are more likely to develop this condition than men.
The symptoms of Rheumatoid Arthritis are:

• Swelling And Pain
  Te inflamed joints are usually swollen and are often warm and spongy when touched. The pain occurs on both sides of the body and may be more severe on either side.
• Building up of certain
  Fluid may get accumulated in joints. The fluid gathered in the joint sac behind the knee forming a tumor like substance called Baker’s Cyst. This cyst sometimes extends down the back of the calf and causes severe pain.
• Nodules
  In some cases of RA, inflammation of small blood vessels may cause nodules or lumps, under the skin. These nodules are often situated near the elbow (it can show up at other places too) and are about the size of pea or slightly larger than that. These nodules can become sore and infected, particularly if their location is where stress occurs, for e.g. Ankles.
• Specific Joint Pain
  Although RA mostly develops in the wrists and knuckles, the balls of the foot and knees are often affected too. Joints like those in the cervical spine, shoulders, jaw, elbows and even the joints between the inner ear, gets eventually affected.
• Flu like Symptoms
  Fatigue, loss of weight and fever are also few symptoms.

Complications Involved

• Anemia – RA patients tend to develop anemia i.e. decrease in the number of red blood cells.
• Eye Problems – Inflammations of the blood vessels in the eyes, like scleritis and episcliritis that can result in corneal damage. Symptoms include redness of the eye and gritty sensation.
• Skin Problems – Skin problems are common in RA patients, usually on the fingers and under the nails.
• Infections – RA patients are at a higher risk of being affected by infections, because of the disease itself and also due the immune suppressing drugs used in the treatment.
• Peripheral Neuropathy – RA condition affects the nerves, most often n hands and feet.
• Joint Deterioration and Pain – Affected joints become deformed due to the disease.
• Osteoporosis – Loss of bone density, is more common than average in postmenopausal women with RA. The hip is particularly affected. The risk for osteoporosis also appears to be higher in men with RA who are over 60 years old.
• Lung Diseases – Chronic lung diseases like interstitial fibrosis, pulmonary hypertension etc. are also caused in RA condition.
• Pregnancy Complications – Women with RA are more prone to premature delivery. They are also at higher risk of developing high blood pressure than in normal cases.
• Kidney and Liver Problems
• Heart Problems

Treatment

The primary goal of treating RA is:

• Stop inflammation
• Prevent joint and organ damage
• Relieve Symptoms
• Improve physical functions
• Reducing long term complications

The treatment is of different types:

Medications

Different drugs are used in the treatment of Rheumatoid Arthritis. Some are to ease the symptoms of RA, others to slower and eventually stop the different activities of RA.
Drugs used to ease the symptoms – Non-steroidal anti-inflammatory drug (NSAIDs) are used to ease the pain and inflammation involved in the condition of RA. These drugs include ibuprofen, ketoprofen and naproxen sodium. Patients with stomach ulcers are prescribed to take celecoxib, also known as COX-2 inhibitor, which is proven to be safer for stomach. These drugs can be taken by mouth or also can be applied to the skin.

Drugs that slower the RA activity– Corticosteroids medications like prednisolone, prednisone and methylprednisolone are some of the fast acting anti-inflammatory medications used in the treatment.
Disease Modifying Anti-Rheumatic Drugs (DMARDs) are the standard medical treatment for RA. Their ability is to slow down the progression of RA. These include- Methotrexate, leflunomide, hydroxychloroqune, minocycline and sulfasalazine. Unfortunately, all DMARDs tend to lose effectiveness over time and may also produce stomach and intestinal side effects.
Biological DMARDs – drugs made out of living cells are also used in the treatment. They are subsets of DMARDs. They target specific components of the immune system that contribute to the various attributes of rheumatoid arthritis. They include abatacept, adalimumab, anakinra, certolizumab pegol, etanercept, infliximab, golimumab and rituximab.

Surgery

Some people with RA are benefitted by joint surgeries. It can help in relieved joint pains and correcting deformities and at times it modestly improves joint function.

Joint Replacement

Joint replacement (arthroplasty) is usually done for people over age 50 or those whose joint damage is rapidly progressing. The joint replacement can last for 20 years or more.

Exercise

Its’ advisable for RA patients to maintain balance between rest and moderate exercise. Studies suggest that even little physical therapy can help the patients and that these benefits are sustained.

Natural Treatment

Natural Supplements

• Boswellia Serate (Indian Frankincense) – contains anti-inflammatory and pain relieving properties.
• Capsicum Fruitescens – reduces substance P, a pain transmitter. Research suggest that it helps in 50 percent reduction of joint pain. It’s available in the form of topical cream, gel etc.
• Fish Oil Capsules (EPA & DHA) – Omega-3 blocks inflammatory cytokines and prostaglandins, and are converted into effective anti-inflammatory chemicals. EPA and DHA are very effective for treating RA and other inflammatory conditions. Studies prove that fish oil significantly decreases joint tenderness and stiffness in RA patients, helping in reduction or elimination of NSAIDs.
• Gamma Linolenic Acid (GLA) – GLA is an Omega-6 fatty acid that the body converts into anti-inflammatory chemicals. Its intake shows significant improvement in joint pain, stiffness and grip strength. Studies show that a combination of fish oil and GLA reduces the need for conventional pain relievers.
• Ginger – Ginger has the properties of anti-inflammatory components similar to ibuprofen and COX-2inhibitors, without any side effects. Its intake reduces osteoarthritis pain in the knee and other joints. It also reduces inflammatory reactions of RA.
• Pine bark extract, rosehips, green-lipped mussel, devil’s claw, borage seed oil etc. also help in the treatment.
• Change in Diet

Restless legs syndrome is a condition that causes an overwhelming urge to move your legs. It is also known as Willis-Ekbom disease.It is experienced by more women than men in the general population and can be a common problem for people who have Parkinson’s. Symptoms can start at any age, but it is more common as you get older.

Restless legs syndrome can be mild, moderate, severe or very severe based on the strength of the symptoms, how often the person may experience them and if they affect the ability to carry out daily tasks. Most people’s symptoms are not severe or frequent enough to need medical treatment. When it happens can vary from person to person. Some people experience it occasionally, while for others it happens every day. It happens most often when you are resting – for example, when you are sitting watching the TV or lying in bed.

People with RLS often have periodic limb movements, a closely related sleep disorder that occurs when muscles

involuntarily tighten, twitch or flex while you are still. Periodic limb movements in sleep occur in 80 percent to 90 percent of people who have RLS.RLS is found in 2 to 5% of people (both men and women). The risk of it goes up as you grow older, and it tends to be more serious in the elderly. But it can start at any age. It can be associated with pregnancy.

Restless Legs Syndrome affects approximately 10% of adults in the U.S. Researchers believe that RLS is commonly unrecognized or misdiagnosed as insomnia or other neurological, muscular or orthopedic condition.RLS also affects about 2% of children, according to a study of more than 10,000 families in the U.S. There is also evidence suggesting that children with attention deficit hyperactivity disorder (ADHD) and a family history of RLS are at risk for more severe ADHD.

Features of RLS

There are four primary features of RLS –

• Uncomfortable sensation in the legs with a clear need or urge to move the legs
• The symptoms are worse at night
• The symptoms come on with rest
• The symptoms are relieved with movement

Types of RLS

• Early-onset RLS starts before the age of 45 years, producing symptoms that progress gradually. The daily occurrence of symptoms usually is not present until the age of 40 to 65 years.
• Late-onset RLS advances more quickly and occurs more often. Symptoms may appear daily from the time that they begin, or they may progress rapidly over a period of about five years until they occur with regularity.
• Primary RLS occurs independently of other disorders but may be exacerbated or triggered by other factors.
• Secondary RLS is precipitated by other disorders and resolves when the other disorders are treated.

Causes

Genetic Factor– The simplest concept is when a specific gene is damaged, for example, hemophilia or sickle cell disease. In these diseases, the damaged gene results in an abnormal protein being made or in no protein at all being made. When we talk about how genes are related to blood pressure, heart disease, Alzheimer’s disease, or RLS then the role of the gene is more difficult to understand because usually these common disorders do not result from one damaged gene but rather from interaction of several genes under certain environmental conditions.More than 50 percent of people with primary RLS report a pattern of the disorder in their family. First-degree relatives of a person with RLS are three times to six times more likely to have it.

Most of the people are born with normal hearts but over time, because of the interaction between environmental factors (aging, high cholesterol, smoking, increased blood pressure, diabetes, etc) and genes, some people will progress to having a bad heart. RLS is also related to environmental factors and genes. The single largest know environmental factors is low iron levels. Low iron may occur before birth, during infancy, as a child, during pregnancy or later in adult life. The low iron may resolve long before one even develops RLS symptoms, but the low iron condition may set into motion set of conditions that eventually lead to getting RLS.

Underlying Health Condition – Restless legs syndrome can sometimes occur as a complication of another health condition, or it can be the result of another health-related factor. This is known as secondary restless legs syndrome.

• Iron deficiency anaemia – low levels of iron in the blood can lead to a fall in dopamine, triggering restless legs syndrome
• A long-term health condition – such as chronic kidney disease, diabetes, Parkinson’s disease, rheumatoid arthritis, an underactive thyroid gland, or fibromyalgia
• Pregnancy – particularly from week 27 until birth; in most cases the symptoms disappear within four weeks of giving birth

Dopamine – Because of the marked improvement in RLS symptoms seen with drugs that stimulate the dopamine system and because of the RLS-like symptoms produced with drug that block the dopamine system, the dopamine system has been implicated RLS. CSF has also been used to evaluate dopamine system, and although this is a crude method for assessing the dopamine system in the brain, the data indicated possible increase in brain dopamine production. Imaging studies using special radioactive chemicals have found reduced receptor and transporter function in the brain of more severely affected RLS patients.

Triggers – There are a number of triggers that don’t cause restless legs syndrome, but can make symptoms worse. These include medications such as –

• Some antidepressants
• Antipsychotics
• Lithium – used in the treatment of bipolar disorder
• Calcium channel blockers – used in the treatment of high blood pressure
• Some antihistamines
• Metoclopramide – used to relieve nausea

Other possible triggers include –

• Excessive smoking, caffeine or alcohol
• Being overweight or obese
• Stress
• Lack of exercise

Alcohol and sleep deprivation also may aggravate or trigger symptoms in some individuals. Reducing or completely eliminating these factors may relieve symptoms, but it is unclear if this can prevent RLS symptoms from occurring at all.

Symptoms

Not only are the signs and symptoms of restless legs syndrome different from person to person, but also they can be tricky to explain. Some describe the leg sensations as “creeping,” “prickling,” “burning,” “tingling,” or “tugging.” Others say it feels as if bugs are crawling up their legs, a fizzy soda is bubbling through their veins, or they have a “deep bone itch.”

The symptoms of RLS can range from mildly annoying to severely disabling. You may experience the symptoms only once in a while, such as when you’re under a lot of stress, or they may plague you every night.

Here are some signs and symptoms of RLS –

Leg discomfort and strong urge to move – Uncomfortable sensations deep within the legs, accompanied by a strong, often irresistible urge to move them. Many describe the sensations as tingling, jitteriness, a “creepy crawly” feeling, itching, or pulling.

Rest triggers the symptoms – Leg pain is normally trigged by activity and relieved by rest, but with restless legs syndrome, the reverse is true. Restless leg symptoms start or become worse when you’re sitting, relaxing, or trying to rest.

Symptoms get worse night – RLS typically flares up at night, especially when you’re lying down. In more severe cases, the symptoms may begin earlier in the day, but they become much more intense at bedtime.

Symptoms improve when you walk or move your legs – The uncomfortable sensations temporarily get better when you move, stretch, or massage your legs. The relief continues as long as you keep moving.

Nighttime leg twitching – Many people with restless legs syndrome also have periodic limb movement disorder (PLMD), a sleep disorder that involves repetitive cramping or jerking of the legs during sleep. These leg movements further disrupt your sleep.

Treatment

Dopamine-Related Medications – Dopamine is a chemical that is produced by certain cells in the brain and this group of drugs functions to either increase the amount of dopamine made by the cell (levodopa) or increase the dopamine signal to other surrounding cells by mimicking dopamine in the brain. The dopamine-related drugs include levodopa, pramipexole, ropinirole and rotigotine. These drugs are also used for Parkinson’s Disease. However, there is no indication that RLS is related to, or is a precursor of, Parkinson’s Disease. These medications are likely to be effective in reducing symptoms in 90% of patients with restless legs syndrome.

Excessive sleepiness, increased compulsive behavior and more commonly, paradoxical worsening of symptoms, referred to as “augmentation”, may occur with these medications after extended use.

Opiates – This category of medications includes codeine, hydrocodone, oxycodone, morphine, hydromorphone, methadone, buprenorphine and pentazocine. It is estimated that 85-90% of patients with RLS will respond very well to opiates.

Benzodiazepines Receptor Agonist (BRA) – This group of drugs is also known as sleeping pills and has valium-like effects. The structure of the parent compound was designated as a “benzodiazepine”. Later research identified the specific target of the benzodiazepine drugs and designated it as the “benzodiazepine receptor”.

Alpha-2 delta Drugs – These drugs have their affect by interacting with one of the calcium channel proteins, alpha-2 delta protein. Calcium channels allow the charged calcium ion to move into the nerve cell and are therefore important in activating, in deactivating and in stabilizing the electrical activity of the nerve cell. The alpha-2 delta drugs are also used to treat patients with nerve-damage related pain even in those without RLS.

Vein Treatment -98% of patients affected by RLS in a recent study found symptom relief after treating varicose veins in their legs with non-surgical sclerotherapy*. Many physicians believe that it is the underlying vein problems that are causing the Restless Leg Syndrome, and by treating this with an outpatient procedure, patients can get relief.

Alternative Treatment

Iron Supplements – Iron supplements may reduce symptoms in people with restless legs syndrome who are also iron deficient. Patients should use them only when dietary measures have failed. Iron supplements do not appear to be useful for RLS patients with normal or above normal iron levels.

Magnesium mineral supplement – Magnesium therapy for periodic leg movements-related insomnia and restless legs syndrome: an open pilot study.Periodic limb movements during sleep (PLMS), with or without symptoms of a restless legs syndrome (RLS), may cause sleep disturbances. Anecdotal observations have shown that oral magnesium therapy may ameliorate symptoms in patients with moderate RLS.

5-HTP – If the iron levels are normal, then 5-HTP supplementation may significantly improve, or even eliminate, restless legs and myoclonus.

Folic Acid – If there is a family history of restless-legs syndrome (about one-third of all patients with this syndrome have a family history), high- dosage folic acid (35 to 60 mg daily) therapy can be helpful.

Vitamin E – Vitamin E supplements of 400 IU two or three times a day are extremely effective in alleviating RLS.

Chamomile– Studies show the herb chamomile has mild calmative effects (it has a calming effect on the whole body.

Ginkgo biloba – Studies show that the herb ginkgo biloba, which has been used in Chinese medicine for centuries, has beneficial effects on peripheral circulation and may help to improve symptoms.

Valerian – Studies show that the herb valerian is effective in inducing sleep as it has sedative effects that help to improve the quality of sleep. Valerian is often used in herbal preparations for insomnia.

Vitamin B1 (thiamin) – This vitamin assists the nervous tissue to perform correctly and reduces incidence of symptoms. Vitamin B1 (thiamin) may be more useful for reducing symptoms in combination with the rest of the B vitamins.

Vitamin B5 (pantothenic acid) – This vitamin helps the nervous system tissues perform properly and reduces incidence of symptoms. Vitamin B5 (pantothenic acid) may be more useful for reducing symptoms in combination with the rest of the B vitamins.

Vitamin B12 (cyanocobalamin) – A deficiency of vitamin B12 (cyanocobalamin) is known to cause secondary restless legs syndrome, so this vitamin is very important to help reduce symptoms.

Vitamin C – The antioxidant vitamin C helps to strengthen the capillary and other blood vessel walls, so it may help with those people that have peripheral neuropathy symptoms as the underlying reason for the restless legs syndrome.

Vitamin E – Studies show that the antioxidant vitamin E may help to reduce symptoms in people with peripheral neuropathy, as it helps to ensure there is proper circulation in the peripherals (legs/arms) and the blood in the veins and arteries is circulating properly.

Calcium – The mineral calcium is necessary to enable proper muscles contraction and to ensure the muscles work effectively, so it may assist with reduction of symptoms (in conjunction with other nutrients).

Potassium – The mineral potassium is also necessary for proper muscles contraction and ensuring the muscles work properly, so may assist with reduction of symptoms (especially in conjunction with the other nutrients).

Essential fatty acids – The omega 3 essential fatty acids are needed by the body to help reduce inflammation, especially in the muscles, tendons and nerves. The essential fatty acids may be especially useful in reducing severity of symptoms.

GABA – The amino acid GABA is also one of the neurotransmitters which helps the body to relax. GABA is also required to help make the important other neurotransmitter dopamine, which may not be functioning properly in people with restless legs syndrome.

Tryptophan – Studies show there is a link between low levels of the amino acid tryptophan and increased incidence of restless legs syndrome and this is most likely because tryptophan and vitamin B3 (niacin) are closely related and vitamin B3 (niacin) may be especially required to relieve restless legs syndrome symptoms.

Reference –

http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/restless-legs-syndrome/what-is-rls/

http://www.aasmnet.org/resources/factsheets/rls.pdf

http://sleephealthfoundation.org.au/pdfs/Restless-Legs.pdf

https://sleepfoundation.org/sleep-disorders-problems/restless-legs-syndrome/symptoms

http://www.helpguide.org/articles/sleep/restless-leg-syndrome-rls.htm#treatment

http://www.medicinenet.com/restless_leg_syndrome/article.htm

http://patient.info/health/restless-legs-syndrome-leaflet

http://www.besthealthmag.ca/best-you/home-remedies/natural-home-remedies-restless-legs-syndrome

http://www.mommypotamus.com/natural-remedies-for-restless-leg-syndrome/

http://www.nytimes.com/health/guides/disease/restless-leg-syndrome/treatment.html

Primary biliary cirrhosis (PBC) is an inflammation with chronic and slowly progressive scarring of bile ducts in the liver. If left untreated, or if a patient does not adequately respond to treatment, chronic inflammation and fibrosis can advance to cirrhosis.

The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. When food enters the stomach after a meal, the gallbladder contracts, and the bile ducts carry bile to the duodenum, the first part of the small intestine, for use in digestion. The liver makes bile, which is made up of bile acids, cholesterol, fats, and fluids. Bile helps the body absorb fats, cholesterol, and fat-soluble vitamins. Bile also carries cholesterol, toxins, and waste products to the intestines, where the body removes them. When chronic inflammation, or swelling, damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue. This damage to the liver tissue can lead to cirrhosis, a condition in which the liver slowly deteriorates and is unable to function normally. In cirrhosis, scar tissue replaces healthy liver tissue, partially blocking the flow of blood through the liver.

The buildup of scar tissue that causes cirrhosis is usually a slow and gradual process. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse and scar tissue replaces more healthy tissue, the liver will begin to fail. Chronic liver failure, which is also called end-stage liver disease, progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or effectively replace damaged cells.

Causes

Autoimmune System – Most research suggests the disease is an autoimmune condition. The immune system usually protects the body from harmful substances such as bacteria and viruses by attacking and destroying them. In autoimmune diseases, the immune system instead attacks the body’s own tissues. In primary biliary cirrhosis, the immune system attacks the bile ducts.

Genetic Factor – Genetic factors may make a person prone to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or sibling-particularly an identical twin-with the disease. Genetic factors may also make some people prone to develop other autoimmune diseases. People with primary biliary cirrhosis may have other autoimmune conditions such as rheumatoid arthritis or autoimmune thyroiditis. A person who has genetic factors for primary biliary cirrhosis may be more likely to develop the disease after exposure to chemicals or infections, such as urinary tract infections.

Environmental Factors – Environmental factors may have a potential causative role – infection, chemicals, smoking. It may trigger or worsen the disease.

Risk Factors

PBC is most commonly diagnosed after the age of 40 years. Of patients with PBC, 90% are women. The prevalence is higher in northern European population groups and lower in Japan. Disease prevalence estimates have ranged from 40 to 400 cases per 1,000,000 population, with an incidence between 4 and 30 cases per 1,000,000 per year. In particular the following women are most at risk –

• Women who are middle aged or older
• Women who have a family history of PBC.

Symptoms

Some people with PBC will never get any symptoms of the disease. Clear symptoms of PBC are constant tiredness (for some people this can be severe) and intense itching in any part of the body. Itching, also known as pruritus, may be a result of your liver’s inability to process bile. It is thought that bile acids are not the cause of the itching but rather other chemicals that are retained in the body. As with tiredness, the severity of the itching will vary from person to person. Severity is not an indication of the amount of liver damage.

Other symptoms that may develop usually include the following –

• Dry eyes and/or dry mouth
• Constant or variable ache or discomfort in the upper right hand side, below your ribs
• Indigestion, nausea or poor appetite
• Arthritis (inflammation of the joints)
• Pain in the bones
• Mottled palms with red or pink blotches
• Diarrhoea
• Dark urine and/or stools
• Jaundice – yellowing of the skin and whites of the eyes.

Tiredness and itching are generally the first symptoms to appear while jaundice is usually associated with the later stages of the disease.

Complications

Most complications of primary biliary cirrhosis are related to cirrhosis and start after primary biliary cirrhosis progresses to cirrhosis. In some cases, portal hypertension and esophageal varices may develop before cirrhosis.

• Edema and Ascites
• Portal Hypertension
• Varices
• Splenomegaly
• Hepatic encephalopathy
• Gallstones and bile duct stones
• Metabolic bone diseases
• Liver cancer
• Steatorrhea

Treatment

Medications – Stuies suggest ursodiol (Actigall, Urso) to treat primary biliary cirrhosis. Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are more toxic and can harm the liver. Treatment with ursodiol can reduce levels of bilirubin and liver enzymes in the blood. Early treatment with this medication reduces the likelihood of needing a liver transplant and improves survival. Researchers continue to explore other drugs for treating primary biliary cirrhosis. Immunosuppressant drugs, in particular methotrexate (Trexall, Rheumatrex) and colchicine (Colcrys), have been widely used, but their effectiveness remains unproved.

Surgery – A health care provider may consider a liver transplant when cirrhosis leads to liver failure or treatment for complications is ineffective. Liver transplantation is surgery to remove a diseased or an injured liver and replace it with a healthy liver or part of a liver from another person, called a donor.

Lifestyle Changes – People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage. People with cirrhosis should avoid complementary and alternative medications, such as herbs. People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. Many vitamins and prescription and over-the-counter medications can affect liver function.

Alternative Treatment

Vitamin B complex is a group of vitamins (B1, thiamine; B2, riboflavin; B3, niacin; B5, pantothenic acid; B6, pyridoxine; folic acid; betaine; inositol; and B12, cyanocobalamin) that differ from each other in structure and the effect they have on the human body. The B vitamins (thiamine, riboflavin, niacin, pantothenic acid, pyridoxine) play a vital role in numerous metabolic functions including enzyme activities.

Folic acid (vitamin B4) is an important member of the B complex family, known for reducing harmful levels of homocysteine (a sulfur-containing amino acid) known to be a major culprit in heart disease. At normal levels, homocysteine plays a vital role in the biosynthesis of cysteine, which assists glutathione in the liver to detoxify carcinogens and other toxins, but without adequate methylation, which is provided by folic acid and other B vitamins, biochemical reactions generated from beneficial byproducts of homocysteine cannot occur.

Choline is another of the B complex vitamins, essential for the use of fats in the body.

Selenium is a trace element that acts by several mechanisms, including detoxifying liver enzymes, exerting anti-inflammatory effects, and providing antioxidant defense.

Zinc is used in numerous drugs and preparations that are protective: zinc oxide in skin ointments; zinc stearate in acne and eczema preparations; and zinc permanganate to treat bladder inflammation. Zinc deficiency features weakness, decreased taste and appetite, lengthy wound healing, and risk of infection. Zinc levels that are low have also been related to the progression of cirrhosis to hepatic encephalopathy.

Coenzyme Q10 (CoQ10) is an excellent antioxidant that is protective for a liver that has been damaged by ischemia (reduced blood flow). CoQ10 is also an important component of healthy metabolism.

N-acetyl-cysteine (NAC) is a substance that acts as an antioxidant or free-radical scavenger. Most scientific articles related to liver protection with NAC emphasize this effect.

S-Adenosyl Methionine (SAMe) is a methylation agent (a methyl group donor) and is necessary for the synthesis of glutathione, necessary for liver health.

Polyenylphosphatidylcholine (PC) is one of the most important substances for liver protection and health and is a primary constituent of the cell membrane. As such, PC is necessary for integrity of liver cells.

Alpha-lipoic acid is an antioxidant that has been shown to decrease the amount of hepatic fibrosis associated with liver injury. Both of these mechanisms suggest it has promise for cirrhosis.

Acetyl-L-carnitine is the biologically active form of the amino acid L-carnitine that has been shown to protect cells throughout the body from age-related degeneration. By facilitating the youthful transport of fatty acids into the cell mitochondria, acetyl-L-carnitine facilitates conversion of dietary fats to energy and muscle.

Taurine is a conditionally essential amino acid produced from cysteine by the body. It is abundantly found in the body, particularly the central nervous system where it is thought to have a regulating influence. Taurine is a crystallized acid that comes from bile, which is produced by the liver.

L-glutamine is a nonessential amino acid that has benefits for the liver and intestines, particularly for those who use NSAIDs (nonsteroidal anti-inflammatory drugs). L-glutamine may also be useful in neutralizing the effects of alcohol and strengthening the immune system.

L-arginine is an essential amino acid. L-arginine is also a key building block for repair of damaged tissue.

Branched-Chain Amino Acids are considered to be essential amino acids because humans cannot survive unless these amino acids are present in the diet. BCAAs are needed for the maintenance of muscle tissue and appear to preserve muscle stores of glycogen (stored form of carbohydrates that can be converted into energy).

Silymarin (also known as milk thistle or Silybum marinum) is a member of the aster family (Asteraceae) that has been used as a medicinal plant since ancient times and is widely used in traditional European medicine.

Reference –

http://patient.info/doctor/primary-biliary-cirrhosis-pro

https://www.aasld.org/sites/default/files/guideline_documents/PrimaryBillaryCirrhosis2009.pdf

http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/cirrhosis-cholangitis-other-cholestatic-liver-disease/

https://www.interceptpharma.com/research-development/therapeutic-areas/primary-biliary-cirrhosis/

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=186

http://www.liver.ca/liver-disease/types/primary-biliary-cirrhosis.aspx

http://www.nhs.uk/conditions/Primary-biliary-cirrhosis/Pages/Introduction.aspx

http://www.mayoclinic.org/diseases-conditions/primary-biliary-cirrhosis/basics/definition/con-20029377

http://www.niddk.nih.gov/health-information/health-topics/liver-disease/primary-biliary-cirrhosis/Pages/facts.aspx

http://emedicine.medscape.com/article/171117-overview

http://www.pbcfoundation.org.uk/about-us/services

http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(15)00154-3/fulltext?rss%3Dyes

http://www.surgery.ucsf.edu/conditions–procedures/primary-biliary-cirrhosis.aspx

Obesity is defined as an excessively high amount of body fat (adipose tissue) in relation to lean body mass. There is evidence that obese children and adults are at greater risk of short-term and long-term health consequences.

An obese person has accumulated so much body fat that it might have a negative effect on their health. If a person’s bodyweight is at least 20% higher than it should be, he or she is considered obese. If your Body Mass Index (BMI) is between 25 and 29.9 you are considered overweight. If your BMI is 30 or over you are considered obese.

Obesity causes or exacerbates many health problems, both independently and in association with other diseases. In particular, it is associated with the development of type 2 diabetes mellitus, coronary heart disease (CHD), an increased incidence of certain forms of cancer, respiratory complications (obstructive sleep apnoea) and osteoarthritis of large and small joints.

Obesity has reached epidemic proportions in the United States. Over two-thirds of adults are overweight or obese, and one in three Americans is obese. The prevalence of obesity in children has increased markedly. Obesity has also been increasing rapidly throughout the world, and the incidence of obesity nearly doubled from 1991 to 1998.

Who is at Risk?

• In women, overweight and obesity are highest among non-Hispanic Black women (about 82 percent), compared with about 76 percent for Hispanic women and 64 percent for non-Hispanic White women.
• In men, overweight and obesity are highest among Hispanic men (about 82 percent), compared with about 74 percent for non-Hispanic White men and about 70 percent for non-Hispanic Black men.
• Children also have become heavier. In the past 30 years, obesity has tripled among school-aged children and teens. About 1 in 6 American children ages 2–19 are obese. The survey also suggests that overweight and obesity are having a greater effect on minority groups, including Blacks and Hispanics.

Causes

Lifestyle and Behavior Factor – Healthy behaviors include a healthy diet pattern and regular physical activity. Energy balance of the number of calories consumed from foods and beverages with the number of calories the body uses for activity plays a role in preventing excess weight gain.

Other reasons for not being active include: relying on cars instead of walking, fewer physical demands at work or at home because of modern technology and conveniences, and lack of physical education classes in schools.

People who are inactive are more likely to gain weight because they don’t burn the calories that they take in from food and drinks. An inactive lifestyle also raises your risk for coronary heart disease, high blood pressure, diabetes, colon cancer, and other health problems.

Environmental Factor – People and families may make decisions based on their environment or community. For example, a person may choose not to walk or bike to the store or to work because of a lack of sidewalks or safe bike trails. Community, home, child care, school, health care, and workplace settings can all influence people’s daily behaviors. Therefore, it is important to create environments in these locations that make it easier to engage in physical activity and eat a healthy diet.

Lack of Sleep – People who do not sleep enough are at a higher risk of becoming obese, according to a research. The ‘epidemic’ of obesity is paralleled by a ‘silent epidemic’ of reduced sleep duration with short sleep duration linked to increased risk of obesity both in adults and in children. These trends are detectable in adults as well as in children as young as 5 years

Genetic Factor – Genetic changes in human populations occur too slowly to be responsible for the obesity epidemic. Nevertheless, the variation in how people respond to the environment that promotes physical inactivity and intake of high-calorie foods suggests that genes do play a role in the development of obesity.

Other Factors – Some illnesses may lead to obesity or weight gain. These may include Cushing’s disease, and polycystic ovary syndrome. Drugs such as steroids and some antidepressants may also cause weight gain. The science continues to emerge on the role of other factors in energy balance and weight gain such as chemical exposures and the role of the microbiome.

A health care provider can help you learn more about your health habits and history in order to tell you whether behaviors, illnesses, medications, and/or psychological factors are contributing to weight gain or making weight loss hard.

Endocrine disruptors, such as some foods that interfere with lipid metabolism. The molecular mechanism through which fructose (a type of sugar) in beverages may alter lipid energy metabolism and cause fatty liver and metabolic syndrome.

Symptoms

Weight gain usually happens over time. Most people know when they’ve gained weight. Some of the signs of overweight or obesity include –

• Clothes feeling tight and needing a larger size.
• The scale showing that you’ve gained weight.
• Having extra fat around the waist.
• A higher than normal body mass index and waist circumference

The BMI is a statistical measurement derived from your height and weight. Although it is considered to be a useful way to estimate healthy body weight, it does not measure the percentage of body fat. The BMI measurement can sometimes be misleading – a muscleman may have a high BMI but have much less fat than an unfit person whose BMI is lower. However, in general, the BMI measurement can be a useful indicator for the ‘average person’.

Complications

• Diabetes
• Heart Disease
• Hypertension

Other risks

In addition to diabetes, heart disease and hypertension, obesity is related to dozens of serious health problems. For instance –

• A growing body of evidence shows links between maternal health conditions -— including obesity, chronic diseases — and increased risks before, during and after childbirth.
• Approximately 20 percent of cancer in women and 15 percent of cancer in men is attributable to obesity.
• An estimated 24.2 percent of kidney disease cases among men and 33.9 percent of cases among women are related to overweight and obesity.
• Almost 70 percent of individuals diagnosed with arthritis are overweight or obese.
• Both overweight and obesity at midlife independently increase the risk of dementia, Alzheimer’s disease and vascular dementia.
• Other mental health conditions.

Treatment

• Diet, exercise, and behavioral modification should be included in all obesity management approaches for body mass index (BMI) of 25 kg/m 2 or higher.

Medications – A variety of over-the-counter and prescription weight loss drugs are available. Some people find these drugs help curb their appetites. Studies show that patients on drug therapy lose around 10 percent of their excess weight, and that the weight loss plateaus after six to eight months. As patients stop taking the medication, weight gain usually occurs. Weight loss drugs, approved by the U.S. Food and Drug Administration (FDA) for treating obesity, include:

• Beta-methyl-phenylethylamine (Fastin) — This is a stimulant that increases fat metabolism.

• Orlistat (Xenical) — This drug works by blocking about 30 percent of dietary fat from being absorbed. Alli is a lower-dose, over-the-counter formula of the same medication.

• Phentermine — Phentermine, an appetite suppressant, has been available for many years. It is half of the “fen-phen” combination that remains available for use. The use of phentermine alone has not been associated with the adverse health effects of the fenfluramine-phentermine combination.

• Sibutramine (Meridia) — This is an appetite suppressant approved for long-term use.

Surgeries – In patients with morbid obesity associated with comorbidities, bariatric surgery is the only available therapeutic modality associated with clinically significant and relatively sustained weight loss. Well-performed bariatric surgery, in carefully selected patients and with a good multidisciplinary support team, substantially ameliorates the morbidities associated with severe obesity.

• Roux-en-Y procedure (gastric bypass) – Permanently reduces the size of the stomach; vomiting is the most common side effect.
• Gastric banding – An adjustable silicone band is placed around the stomach, decreasing the amount of food that can be eaten. The band can be adjusted or removed.
• Laparoscopic vertical sleeve gastrectomy – The stomach is restricted by stapling and dividing it vertically and removing more than 85% of it. The stomach that remains is shaped like a very thin banana.

Behavior Modification – The goal of behavior modification therapy is to change your eating and exercise habits to promote weight loss. Examples include:

• Setting realistic weight loss goals — short term and long term.
• Recording your diet and exercise patterns in a diary.
• Identifying high-risk situations and avoiding them.
• Rewarding specific actions, such as exercising for a longer time or eating less of a certain type of food.
• Adopting realistic beliefs about weight loss and body image.
• Developing a support network, including family, friends and co-workers, or joining a support group that can help you focus on your goal.

Alternative Treatment

5-Hydroxytryptophan (5-HTP) – 5-HTP is thought to reduce hunger cravings by boosting serotonin levels in the central nervous system, which may reduce appetite and lessen food cravings.

Fiber – Fiber may help lower insulin levels (insulin controls the amount of sugar in the blood) and help you feel fuller.

Calcium – Calcium may play an important role in fat burning. Population studies show that higher dietary calcium levels are associated with lower BMIs.

Zinc – Zinc may increase lean body mass and reduce or stabilize the amount of fat. The reason may be that zinc increases levels of leptin, a hormone in the body that helps you feel full. Zinc can interact with certain medications, including Cisplatin, and some antibiotics.

Pyruvate – Pyruvate is a substance that occurs naturally in the body, where it is converted to lactic acid. There is some evidence that it may help reduce body fat, possibly by increasing the body’s metabolic rate.

Vitamin D and Calcium – Studies found that in postmenopausal women, those who took calcium and vitamin D supplements were less likely to gain small to moderate amounts of weight than those who took placebo. Calcium can interfere with certain medications, including some antibiotics and thyroid medications. Calcium must be in balance with other minerals and electrolytes in the body, such as magnesium and phosphate.

Hydroxycitric acid (HCA) – This substance, extracted from the fruit Garcinia cambogia, is similar to citric acid (found in oranges and citrus fruits). HCA stops carbohydrates from being stored as fat, and some animal tests indicate HCA can suppress appetite.

Chitosan – Chitosan is a fiber-like supplement made from the shells of crustaceans, such as shrimp and crab. While some studies show that chitosan (in addition to a low-calorie diet) reduces weight, it is unclear whether the supplement itself, the low-calorie diet, or a combination of both led to the weight loss. Other studies show mixed results. Chitosan may have a blood-thinning effect, and therefore can interact with blood-thinning medications, such as warfarin (Coumadin) and aspirin.

Glucomannan – Glucomannan is a kind of insoluble fiber that appears to reduce blood sugar levels and may help promote weight loss. People with diabetes should not take glucomannan without their doctor’s supervision. Glucomannan may interfere with the absorption of several medications.

Psyllium – Psyllium, a kind of soluble fiber, may reduce hunger cravings by making you feel full. Adding psyllium and other sources of fiber into your diet may aid weight loss.

Guggul – A common ingredient in several Ayurvedic medicines used to treat obesity. Studies suggest that overweight people who take these Ayurvedic remedies lose slightly more weight compared to those who do not take them. Guggul can cause mild diarrhea and nausea, and may interact with the following medications: blood-thinning drugs (anticoagulants), birth control pills, thyroid hormone, tamoxifen, and estrogens.

Green tea – Green tea extract may boost metabolism and help burn fat.

Cayenne or capsaicin – Preliminary evidence indicates that capsaicin (the substance that makes chili peppers taste hot) may reduce hunger and help the body burn fat, particularly when eating a high-fat diet.

Hoodia – A number of media reports on hoodia have suggested it could be an effective weight loss supplement.

Reference –

http://www.nhlbi.nih.gov/health/health-topics/topics/obe/treatment

http://www.cdc.gov/obesity/adult/causes.html

http://www.mayoclinic.org/diseases-conditions/obesity/basics/causes/con-20014834

http://www.nhs.uk/Conditions/Obesity/Pages/Treatment.aspx

http://www.medicinenet.com/obesity_weight_loss/page2.htm

http://www.medindia.net/patients/patientinfo/obesity.htm

http://www.webmd.com/diet/obesity/obesity-treatment-overview

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776037/

http://treatment.hpathy.com/homeo-medicine/homeopathy-obesity/

http://health.howstuffworks.com/wellness/natural-medicine/alternative/alternative-medicines-for-obesity.htm

Methylenetetrahydrofolate reductase, the MTHFR gene is a genetic polymorphism, or what is seen as a genetic variance or flaw in today’s science. One in every two people may have this variance — about half of the population.

The human body contains over 50 trillion cells, and each cell contains a complete set of instructions for making you. The instructions are encoded in your DNA. Short segments of DNA are called genes. Your DNA is the cookbook, your genes the recipes. Genes encode for specific proteins, and those proteins play a crucial role in the function of the body’s tissues and organs. Humans have about 20,000 genes. Among those 20,000 genes is the MTHFR gene. Most people have two copies of it. It provides instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form. This process is super important because methyl-folate plays a role in just about everything your body does.

Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. In other words, the MTHFR gene is responsible for production of an important enzyme.

This enzyme is a critical part of the methionine and folate cycles, which are important to manufacturing methionine, an amino acid which is a fundamental constituent of all proteins on the planet, and folate (or folic acid), which is an essential nutrient.

Causes

Even though you have a gene mutation that may not mean that it is expressing it’s self, many people for example have a fault in the MTHFR gene but experience no symptoms. It seems to be the following that can “switch a gene on” that decreases the pathway that the gene is responsible for MTFHR defect.

• Viral Infections like Glandular fever
• Poor Dietary & Life style choices
• Stress & Trauma
• Chronic Inflammation
• Oxidative Stress
• Nutritional Deficiencies
• Mould toxicity & Exposure
• Heavy Metal Poisoning
• Severe Food Poisoning

Affects of MTFHR enzyme Deficiency

MTHFR enzyme deficiency (caused by one of several MTHFR gene mutations) leads to two important problems –

• Accumulation of the methionine precursor, homocysteine, which can lead to several types of injury including DNA and vascular damage. People with high homocysteine levels typically respond well to supplementation with vitamins such as B6, B12, and folate or folic acid.
• Lack of folate (folic acid), which leads to several known issues, is easily treated with folate or folic acid. As I’ve discussed in scientifically detailed manner previously, folate and folic acid are simply two forms of the same chemical, indistinguishable by the human biochemistry.

High homocysteine levels in the blood are recognised as a risk factor for –

• Coronary artery disease
• Venous thrombosis and stroke
• Type 2 Diabetes and
• Obesity

High homocysteine levels in the blood have also been associated with –

• Neural tube defects
• Recurrent miscarriage
• Autism Spectrum Disorders
• Stillbirths
• Depression and other mood disorders

Associated Conditions with MTFHR defects –

• Elevated homocystine
• Heart Disease
• Stroke
• DVT (Deep Vein Thrombosis)
• Placental Vascular Problems (stillbirth)
• Preeclampsia,
• Neural tube defects (midline defects ranging from tongue tie to Spina Bifida)
• Depression, Anxiety,
• IBS
• Fibromyalgia
• Chronic Fatigue
• Migraines
• Dementia
• Nerve pain
• Schizophrenia
• Parkinson’s
• Autism, (98% of autistic people test positive for MTHFR)
• ADHD
• Addictions
• Cancer
• Renal Failure
• Downs Syndrome

The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.

Those of people with the MTHFR mutation have a defective MTHFR enzyme. They produce 30 to 70% less methyl-folate than someone without the mutation does. With lower methylation, your performance can suffer, and you have a higher risk of developing many different diseases.

Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems . It’s involved in –

• Repairing and regenerating your cells, tissues and DNA
• Regulating gene expression and protein function
• Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory
• Controlling homocysteine (an amino acid that can damage blood vessels)
• Keeping inflammation in check
• Assisting your liver in processing fats
• Activating and regulating the immune system
• Modifying toxins and heavy metals

Diagnosis

Following test may prove helpful –

• Neurotransmitter Metabolites – A simple urine test showing the breakdown of all your neurochemicals
• Stress and Sleep hormone profile – A Saliva test to measure plasma cortisol levels & Melatonin levels
• Blood Glucose – Prolonged stress will affect blood sugar levels and changes in blood sugar levels can make conditions like anxiety and depression worse.
• Homocysteine levels – This is a great indicator of the MTHFR C677T gene
• Whole Cell B12 and Folate levels – These reflect what you body is and is not converting, often people have elevated levels of these with these sorts of gene mutations
• Stool Analysis– Bacterial over growths are a common cause and problem in those with methylation faults.
• Zinc Levels – A simple taste test to check your zinc status.
• Full Genetic Profiles – Methylation and genetic testing allows us to access the entire pathways that might be contributing to your condition.
• Histamines – Many people with these genes have an inability to detoxify histamines causing conditions like hives and skin inflammation
• Food & Chemical testing – Many people with these gene mutations find it hard to tolerate certain food groups.
• Hair Mineral Testing – Often heavy metal toxicity can compound issues and gene faults can make it hard to detoxify certain heavy metals.

Treatment

Using other forms of functional medicine as our guide, the Salerno Center for Complementary Medicine offers unique, customizable IV therapy vitamins for MTHFR, which include metholated folate, glutathione, and other important nutrients for remethylation. Depending on the treatment plan and personal needs, this broad spectrum IV mixture can be administered once or twice a week for several months at a time for convenient, absorbable, targeted care.

Besides MTHFR testing, other areas of evaluation include metal toxicity, thyroid, vitamin D, adrenals, environmental/food sensitivity panels, organic acids, and viral antibodies.

Supplements –

Folate (or Vitamin B9) is not to be confused with Folic Acid, the synthetic version which you should avoid.

B12 is crucial for your brain, nervous system and red blood cell formation. People with MTHFR can become deficient in B12 if they are taking the wrong form (cyanocobalamin) or not getting enough from natural food sources.

Vitamin B6 is crucial for your brain, immune system, nerve function, red blood cells and protein digestion.

Riboflavin cannot be stored in the body so you need to have some every day. Vitamin B2 is essential for energy production and serves as an important antioxidant.

Vitamin C, another powerful antioxidant, this one is a little easier to get as long as you eat your fruits and veggies.

Betaine important to the methylation process and also for liver health and homocysteine reduction.

N-Acetyl-Cysteine and Glutathione proves to be helpful.

Curcumin, which has a number of health benefits including anti-inflammatory and anti-cancer properties.

EPA/DHA, these fatty acids are all the rage these days and are particularly important for people with MTHFR genetic mutations.

Reference –

http://mthfr.net/

http://ghr.nlm.nih.gov/gene/MTHFR

https://www.bulletproofexec.com/the-mthfr-gene-mutation-and-how-to-rewire-your-genetics/

http://circ.ahajournals.org/content/111/19/e289.full

https://www.sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/

Metachromatic leukodystrophy (MLD) is a rare inherited disorder affecting mainly the ‘white matter’ of the brain, causing a progressive loss of physical and, later, mental skills. MLD is the most common in a group of diseases known as leukodystrophies. These diseases affect the myelin sheath, a fatty covering that insulates and protects nerve cells.

Symptoms may include spasticity, seizures, personality changes, and progressive dementia. As the disease progresses, the person loses the ability to walk, talk, see, and hear. Eventually he or she become paralyzed and unresponsive.

MLD results from a deficiency in an enzyme called arylsulfatase A. The lack of arylsulfatase A causes a fatty substance called sulfatide to build up to toxic levels in the body. This gradually destroys the myelin sheath, without which brain cells die and nerves in the body cannot function properly.

Metachromatic leukodystrophy can be divided into early-onset and late-onset forms. The early-onset form is also called the infantile form, and the late-onset form can be further divided into juvenile or adult forms. The course of the disease is similar, but the age at which symptoms appear varies, as does the rate at which symptoms progress. The age at which symptoms begin is usually similar among family members.

Most children with the infantile form die by the age of 10. Those with the juvenile form typically develop symptoms between the ages of 3 and 14 and can live 10 to 20 years after the onset of symptoms. The adult form of the disease is more variable, but affected adults may not develop symptoms until their 40s or 50s and can live 20 to 30 years after symptoms begin. Death most commonly occurs from pneumonia or other infections

Types

Generally, there are considered to be three main types of MLD that have different ages of onset

• Infantile form, occurring between ages 6 months and 2 years
• Juvenile form, occurring between ages 3 and 6 (early juvenile) or between ages 6 and 16 (late juvenile)
• Adult form, occurring at age 17 or older

Causes

MLD is inherited in an autosomal recessive manner, and is most commonly caused by a mutation in a gene called arylsulfatase A (ASA), also called sulfatide sulfatase. The protein produced by ASA is present in the lysosome, a compartment of the cell that specializes in general “cleanup” of the cell. You may hear MLD referred to as a lysosomal storage disorder, since ASA is a lysosomal enzyme. MLD can also be caused by a defect in Saposin B (also referred to as the cerebroside sulfate activator), which is a protein required for ASA to work properly.

ASA is required for the breakdown of sulfatides, also called glycolipid- cerebroside sulfates, which are fats present in myelin. When ASA is deficient, the sulfatides build up in the myelin to high levels, disrupting the myelin structure and causing demyelination to occur in both the central nervous system and in the peripheral nervous system. The sulfatides will also build up in the visceral organs (such as the kidneys), and will be excreted at high levels in the urine.

Previously, a disorder known as multiple sulfatase deficiency (MSD) was sometimes considered a subset of MLD. While many symptoms of MSD are similar to those of MLD, we have chosen to classify it as a separate disorder. To learn more about MSD, please see our MSD fact sheet.

Risk Factors

Metachromatic leukodystrophy is a rare disorder that affects males and females in equal numbers. People of all ethnic backgrounds may be affected by this disease. More than 160 cases have been reported in the medical literature. The prevalence of the late infantile form is 1 in 40,000. The prevalence of the juvenile form is 1 in 150,000.

Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel.

Symptoms

The symptoms for MLD are –

• Abnormally high muscle tone, abnormal muscle movements
• Behavior problems
• Decreased mental function
• Decreased muscle tone
• Difficulty walking
• Feeding difficulties
• Frequent falls
• Inability to perform normal tasks
• Incontinence
• Irritability
• Loss of muscle control
• Nerve function problems
• Personality changes
• Poor school performance
• Seizures
• Speech difficulties, slurring
• Swallowing difficulty

Treatment

Umbilical Cord, blood or stem cell or Bone marrow transplantation – This means that cells that produce normal ASA are introduced into the patient, and the normal ASA protein is then taken up into the deficient cells, allowing sulfatides in those cells to be broken down. However, this is only useful for those who are pre-symptomatic or those with very mild neurological manifestations.

Drugs can be given to relieve muscle spasms, treat infections and try to control seizures (should they occur). Pain relief and sedative drugs can be given if required, and feeding can be assisted.

Physiotherapists and others can advise parents on positioning, seating and exercising the limbs to maintain comfort.

Specialist schooling will be required and it is important for the child to have this stimulating environment and social contact and, indeed, for the parents to have some time for themselves and other family members and friends.

Alternative Treatment

Enzyme Replacement Therapy – A therapeutic strategy useful in other metabolic storage diseases is direct enzyme replacement. The difficulty with this strategy has always been getting adequate enzyme activity into the Central Nervous System (CNS). Intravenous injections of a recombinant human Arylsulfatase-A in a mouse model of metachromatic leukodystrophy initially demonstrated no evidence of impact on CNS stores of sulfatide. However, with a significant increase in the injection frequency, researchers were able to demonstrate a reduction in CNS stores.

Reference –

http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm

https://my.clevelandclinic.org/health/diseases_conditions/hic_Metachromatic_Leukodystropy

http://www.healthline.com/health/metachromatic-leukodystrophy#Overview1

http://www.webmd.com/brain/leukodystrophy-metachromatic

http://emedicine.medscape.com/article/951840-treatment

http://www.mldfoundation.org/

http://www.brains4brain.eu/developing-treatment-options-for-metachromatic-leukodystrophy-mld/

The metabolic syndrome is a cluster of the most dangerous heart attack risk factors: diabetes and raised fasting plasma glucose, abdominal obesity, high cholesterol and high blood pressure. When a patient presents with these risk factors together, the chances for future cardiovascular problems are greater than any one factor presenting alone.

The term “metabolic” refers to the biochemical processes involved in the body’s normal functioning. Risk factors are traits, conditions, or habits that increase the chance of developing a disease.

Metabolic syndrome is a serious health condition that affects about 34 percent of adults and places them at higher risk of cardiovascular disease, diabetes, stroke and diseases related to fatty buildups in artery walls. The underlying causes of metabolic syndrome include overweight and obesity, physical inactivity and genetic factors.

The condition is also known by other names including Syndrome X, insulin resistance syndrome, and dysmetabolic syndrome. According to a national health survey, more than one in five Americans has metabolic syndrome. The number of people with metabolic syndrome increases with age, affecting more than 40 percent of people in their 60s and 70s.

Causes

Metabolic syndrome has several causes that act together. A person can control some of the causes, such as overweight and obesity, an inactive lifestyle, and insulin resistance.

People can’t control other factors that may play a role in causing metabolic syndrome, such as growing older. The risk for metabolic syndrome increases with age.

People also can’t control genetics (ethnicity and family history), which may play a role in causing the condition. For example, genetics can increase the risk for insulin resistance, which can lead to metabolic syndrome.

People who have metabolic syndrome often have two other conditions: excessive blood clotting and constant, low-grade inflammation throughout the body. Researchers don’t know whether these conditions cause metabolic syndrome or worsen it.

Researchers continue to study conditions that may play a role in metabolic syndrome, such as –

• A fatty liver (excess triglycerides and other fats in the liver)
• Polycystic ovarian syndrome (a tendency to develop cysts on the ovaries)
• Gallstones
• Breathing problems during sleep (such as sleep apnea)

Risk Factors

The following factors increase the chances of having metabolic syndrome –

• Age – The risk of metabolic syndrome increases with age, affecting 40 percent of people over the age of 60.
• Race – Hispanics and Asians seem to be at greater risk of metabolic syndrome than are people of other races.
• Obesity – Carrying too much weight increases the risk of metabolic syndrome
• Diabetes – People are more likely to have metabolic syndrome if they had diabetes during pregnancy (gestational diabetes) or if they have a family history of type 2 diabetes.
• Other diseases – The risk of metabolic syndrome is higher if people have ever had cardiovascular disease, nonalcoholic fatty liver disease or polycystic ovary syndrome.

Symptoms

Clinical manifestations of metabolic syndrome include the following –

• Hypertension
• Hyperglycemia
• Hypertriglyceridemia
• Reduced high-density lipoprotein cholesterol (HDL-C)
• Abdominal obesity
• Chest pains or shortness of breath: Suggesting the rise of cardiovascular and other complications
• Acanthosis nigricans, hirsutism, peripheral neuropathy, and retinopathy: In patients with insulin resistance and hyperglycemia or with diabetes mellitus
• Xanthomas or xanthelasmas: In patients with severe dyslipidemia

Complications

• Arteriosclerosis – This happens when cholesterol hardens and begins to build up in the walls of arteries, causing blockages that can lead to high blood pressure, heart attack, and stroke.
• Poor kidney function – The kidneys become less able to filter toxins out of the blood, which can also increase the risk of high blood pressure, heart attack, or stroke.
• Insulin resistance – This occurs when the body’s cells don’t respond to insulin (the hormone that helps to regulate sugar in the blood) normally, and that can lead to high blood sugar levels and diabetes.
• Polycystic ovarian syndrome – Thought to be related to insulin resistance, this disorder involves the release of extra male hormones by the ovaries, which can lead to abnormal menstrual bleeding, excessive hair growth, acne, and fertility problems. It is also associated with an increased risk for obesity, hypertension, and — in the long-term — diabetes, heart disease, and cancer.
• Acanthosis nigricans – A skin disorder that causes thick, dark, velvet-like patches of skin around the neck, armpits, groin, between the fingers and toes, or on the elbows and knees.

Treatment

Lose weight – Moderate weight loss, in the range of 5 percent to 10 percent of body weight, can help restore your body’s ability to recognize insulin and greatly reduce the chance that the syndrome will evolve into a more serious illness. This can be done via diet, exercise, or even with help from certain weight-loss medications if recommended by your doctor.

Exercise – Increased activity alone can improve your insulin levels. Aerobic exercise such as a brisk 30-minute daily walk can result in a weight loss, improved blood pressure, improved cholesterol levels and a reduced risk of developing diabetes. Most health care providers recommend 150 minutes of aerobic exercise each week. Exercise may reduce the risk for heart disease even without accompanying weight loss.

Consider dietary changes – Maintain a diet that keeps carbohydrates to no more than 50 percent of total calories. Eat foods defined as complex carbohydrates, such as whole grain bread (instead of white), brown rice (instead of white), and sugars that are unrefined (instead of refined; for example cookies, crackers).

Alternative Treatment

Reference –

http://umm.edu/health/medical/ency/articles/metabolic-syndrome

http://www.liebertpub.com/overview/metabolic-syndromebrand-related-disorders/115/

https://my.clevelandclinic.org/health/diseases_conditions/hic_Metabolic_Syndrome

http://patient.info/doctor/metabolic-syndrome

http://www.emedicinehealth.com/metabolic_syndrome/article_em.htm

http://www.liebertpub.com/editorialboard/metabolic-syndromebrand-related-disorders/115/

http://www.heart.org/HEARTORG/Conditions/More/MetabolicSyndrome/Metabolic-Syndrome_UCM_002080_SubHomePage.jsp

http://www.nhlbi.nih.gov/health/health-topics/topics/ms

https://www.pritikin.com/your-health/health-benefits/reverse-metabolic-syndrome/1381-metabolic-syndrome-cleaning-up-a-mess.html

http://familydoctor.org/familydoctor/en/diseases-conditions/metabolic-syndrome.html