Wednesday, June 27, 2012

What Is Scleroderma? What Causes Scleroderma?

Scleroderma refers to a group of rare chronic autoimmune diseases in which the skin and connective tissues tighten and harden; it is a progressive disease. The skin and connective tissues are fibers that make up the framework that supports the body.

Although scleroderma may run in families, it often occurs in patients without any family history of the disease. Genes linked to scleroderma have not been identified. You cannot catch scleroderma from somebody who has it - it is not contagious. According to experts, approximately 1 in every 4,000 people has some form of scleroderma. It is rare in children, and is more common in females than males. It generally develops when the patient is aged between 30 and 60 years.

There are two major forms of scleroderma:
  • Limited cutaneous scleroderma (morphea) - the patient's hands, arms and face are usually affected. Pulmonary hypertension is also common.
  • Diffuse cutaneous scleroderma (systemic sclerosis) - a rapidly progressing disease that affects a much larger area of the skin and at least one internal organ, often the kidneys, esophagus, heart and lungs. Diffuse cutaneous scleroderma can be fatal.
Although no specific treatment for scleroderma exists, there is treatment for organ system complications.

Prognosis for limited cutaneous scleroderma is usually good. It is worse for diffuse cutaneous scleroderma, especially for elderly male patients. Pulmonary, heart and/or kidney complications are the most common causes of death.

According to Medilexicon's medical dictionary:
    Scleroderma means "Thickening and induration of the skin caused by new collagen formation, with atrophy of pilosebaceous follicles; either a manifestation of progressive systemic sclerosis or localized (morphea)."

What are the signs and symptoms of scleroderma?

A symptom is something the patient feels and reports, while a sign is something other people, such as the doctor detect. For example, pain may be a symptom while a rash may be a sign.

The signs and symptoms of scleroderma vary according to which organ systems are affected. Diagnosis may initially be hard to make because early symptoms are commonly found in the general population - symptoms which are not necessarily linked to the disease. The most common signs and symptoms include:
  • Raynaud's phenomenon - an over-reaction to cold temperatures or emotional distress. The small blood vessels in the hands and feet narrow, resulting in numbness, pain and color changes in the toes and fingers.
  • GERD (gastroesophageal reflux disease) - the patient may experience acid reflux. If the intestinal muscles are not moving food through the intestines properly there may be problems absorbing nutrients.

  • Skin - the individual may have swollen hands and fingers, patches of hardened skin (especially fingers), tight skin around the face, mouth or hands. The skin may seem to shine because of the tightness. Affected areas may have restricted movement.
Localized scleroderma signs and symptoms:
  • Morphea - thickened, oval-shaped patches of skin; the shapes have a purple border and are white in the middle.
  • Linear scleroderma - bands/streaks of hardened skin on the limbs or forehead. One or more limbs may be affected.
Systemic scleroderma (systemic sclerosis) - blood vessels and internal organs are also affected (as well as the skin). The patient may experience fatigue (tiredness), weight loss and muscle pains.

What are the risk factors for scleroderma?

A risk factor is something which increases the likelihood of developing a condition or disease. For example, obesity significantly raises the risk of developing diabetes type 2. Therefore, obesity is a risk factor for diabetes type 2.
  • Choctaw Native Americans, from Oklahoma are 20 times more likely to develop scleroderma than other people. Choctaws living in Mississippi do not have this higher risk.
  • People of African descent - according to the Mayo Clinic, USA, African-Americans have a significantly higher risk of developing scleroderma than Americans of European descent. African-Americans with systemic scleroderma high a much higher chance of developing severe lung complications compared to other people with system scleroderma.
  • Gender - the incidence of scleroderma among females is four times higher than in males.
  • Environmental factors - miners who are exposed to silica dust, workers exposed to certain industrial solvents (e.g. paint thinners), as well as patients who are given certain chemotherapies have a higher risk of developing scleroderma.

What are the causes of scleroderma?

Scleroderma occurs when the body produces and accumulates too much collagen in tissues. Collagen is a fibrous type of protein which makes up the body's connective tissues (including skin).

Experts suspect that the body's immune system plays a role in the abnormal production of collagen. The individual's immune system attacks the body, resulting in inflammation and the production of too much collagen. Experts do not know what triggers this.

Diagnosing scleroderma

Scleroderma may be difficult to diagnose because it can develop gradually and present itself in several different forms. Experts say that there is no single test that can make a definitive diagnosis. The doctor needs to look at the whole person, taking into account signs and symptoms, the results of a physical examination and some tests. Diagnosis often requires the expertise of a rheumatologist, a doctor who specializes in joint and connective tissue diseases.

The following tests may be ordered:
  • Fingernails - a skin microscope is used to look at the tiny blood vessels (capillaries) in the nail area. Changes associated with systemic sclerosis may be detected.
  • Skin biopsy - a small sample of the affected skin is extracted and examined under a microscope.
  • Blood test - patients with scleroderma usually have high levels of certain antibodies.
  • Other tests - other tests to detect any lung, heart or gastrointestinal complications may also be ordered.

What are the treatment options for scleroderma?

There is currently no treatment that can cure scleroderma. No medication can halt the overproduction of collagen. The localized variety of scleroderma may resolve on its own. Some medications may help control scleroderma symptoms and also help prevent complications.

The doctor's aim will be to:
  • Relieve symptoms
  • Try to prevent the condition from progressing, or at least slow down its speed of progression
  • Detect and treat complications as soon as possible
  • Minimize possible disabilities
Medications
  • Dilating blood vessels - blood pressure medications that dilate the blood vessels may help prevent some organ problems (e.g. kidney or lung). They may also help treat Raynaud's disease.
  • Immune system - some medications, known as immunosuppressants, may suppress the immune system (calm it down). These are the same medications organ transplant recipients use to stop their immune systems from rejecting the new organ.
Therapy
  • Physical therapy (UK: physiotherapy) or occupational therapy - the patient may be helped to manage pain, improve mobility, gain more strength. Certain strategies may be learnt to help the patient perform essential daily tasks. An occupational therapist may advise on certain aids, such as splints, which support the joints and help the patient carry out daily tasks more successfully.
  • Skin appearance - exposure to ultraviolet light may help improve the appearance of certain skin lesions.
  • Dental checkups - if the patient has dry mouth symptoms regular dental checkups are essential.
Surgery
  • Amputation - if ulcers on the fingers have developed gangrene it may be necessary to amputate (more common with severe Raynaud's disease).
  • Lung transplant - if the patient has developed pulmonary hypertension (high blood pressure in the arteries to the lungs), a lung transplant may help.
  • Laser surgery may be used to help with tight skin, eliminate lesions, or camouflage them.

What are the possible complications of scleroderma?

Scleroderma complications may be mild, severe and even life-threatening.

Raynaud's complications - restricted blood flow may permanently damage the fingertips, resulting in pits or ulcers in the flesh. Gangrene can occur, leading to amputation.

Lung complications - pulmonary fibrosis (scarring of lung tissue) can lead to reduced lung function, making it harder to breathe properly. The patient may also develop pulmonary hypertension - high blood pressure in the pulmonary artery that conveys blood from the right ventricle (of the heart) to the lungs. The lungs can become permanently damaged, and there may be failure of the right ventricle.

Kidneys - kidney damage can result in hypertension (high blood pressure) and excess urine protein levels. In some cases there may be a sudden increase in blood pressure and rapid kidney failure (renal crisis) - symptoms include headache, vision problems, seizures, breathlessness, swelling of the legs and feet, or reduced urine production.

Heart - arrhythmias (abnormal heartbeats) and congestive heart failure may result from scarring of heart tissue. The patient may develop pericarditis - inflammation of the lining around the heart (the pericardium); this causes chest pain and fluid build-up around the heart (pericardial effusion).

Teeth - the facial skin may tighten so much that the mouth becomes smaller, making it harder to brush one's teeth; even having one's teeth professionally cleaned may be difficult. Dry mouth is common in patients with scleroderma - this increases the risk of tooth decay. Acid reflux may destroy tooth enamel. Changes in gum tissue may result in loose teeth (they may even fall out).

Sexual function - male erectile dysfunction is common. Women's vaginal opening may be constricting, making sexual function harder. Females with scleroderma may also experience decreased sexual lubrication.

Thyroid - the thyroid gland can become underactive (hypothyroidism).

Joints and muscles - if tight skin limits the movement of a joint, muscles and joints may become affected.

Intestines - the intestines may become underactive, resulting in bloating, constipation, and some other problems.
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Falling In Love Hits The Brain Like Cocaine Does


Falling in love affects intellectual areas of the brain and triggers the same sensation of euphoria experienced by people when they take cocaine, researchers from Syracuse University reveal in an article in Journal of Sexual Medicine. The study, called "The Neuroimaging of Love" found that several euphoria-inducing chemicals, such as vasopression, adrenaline, oxytocin and dopamine are released in 12 areas of the brain that work simultaneously.

The authors also reveal that falling in love can occur in a fifth of a second.

So, is love linked to the brain or the heart?

Professor Stephanie Ortigue said:

That's a tricky question always. I would say the brain, but the heart is also related because the complex concept of love is formed by both bottom-up and top-down processes from the brain to the heart and vice versa. For instance, activation in some parts of the brain can generate stimulations to the heart, butterflies in the stomach. Some symptoms we sometimes feel as a manifestation of the heart may sometimes be coming from the brain.


The scientists also found that when couples had just fallen in love, their blood levels of NGF (nerve growth factor) had gone up. NGF is a molecule that is key in human social chemistry, and in "love at first sight". Ortigue believes their findings confirm that love does have a scientific basis.

When a love affair goes wrong, or when it ends, there is a significant risk of depression and emotional distress for at least one of the partners. The authors say that this study has revealed facts that could have implications for mental health and neuroscience research.

Ortigue said:

It's another probe into the brain and into the mind of a patient. By understanding why they fall in love and why they are so heartbroken, they can use new therapies.


If we can identify which parts of the brain are activated and stimulated by love, clinicians and therapists might have a deeper understanding of what is going on when treating a love-sick patient, the authors believe.

We know there are various types of love, and it appears that different parts of the brain are affected depending on what type of love there is. The love between a mother and her offspring, for example, what we call unconditional love is generated by the common and different brain areas, which includes the middle of the brain. The reward part of the brain is stimulated when passionate love is involved, as well as associative cognitive areas of the brain which deal with higher thought functions, such as body image.

The Syracuse University team worked with researchers from West Virginia University as well as Geneva University Psychiatric Center, Switzerland.

Ongoing research on how fast love in the human brain works should be concluded soon, the authors wrote.

"Neuroimaging of Love: fMRI Meta-Analysis Evidence toward New Perspectives in Sexual Medicine"
Continue to Read more ...

What Is Myasthenia Gravis? What Causes Myasthenia Gravis?

In Myasthenia gravis, also known as Goldflam disease, a neuromuscular disease, the muscles under our voluntary control become easily tired and weak because there is a problem with how the nerves stimulate the contraction of muscles. Typically, the muscles around the eyes are affected first, causing the eyelids to droop; some patients also develop double vision.

Muscles we cannot control voluntarily, such as the heart muscles, are not affected.

Myasthenia gravis is an autoimmune disorder, in which circulating antibodies cause weakness by blocking acetylcholine receptors at the post-synaptic neuromuscular junction, inhibiting the stimulative effect of the neurotransmitter acetylcholine. The disease is treated with immunosuppressants or cholinesterase inhibitors. Although there is no cure, treatment is effective in alleviating symptoms of arm/leg weakness, double vision, drooping eyelids, speech difficulties, chewing, swallowing and breathing. In fact, many people with the disease become completely free of symptoms after treatment.

Symptoms generally worsen with physical activity and improve after resting or a good night's sleep.

Affecting 1 or 2 people in every 10,000, myasthenia gravis is one of the less common autoimmune disorders. Myasthenia gravis (MG) is distinguished from congenital myasthenic syndromes (which have similar symptoms) in that MG responds well to immunosuppressive interventions, while congenital myasthenic syndromes do not.

Myasthenia gravis more commonly occurs in women under 40 years and men over 60. However, it may affect individuals of any age.

According to Medilexicon's medical dictionary:
    Myasthenia gravis is " a disorder of neuromuscular transmission marked by fluctuating weakness and fatigue of certain voluntary muscles, including those innervated by brainstem motor nuclei; caused by a marked reduction in the number of acetylcholine receptors in the postsynaptic membrane of the neuromuscular junction, resulting from an autoimmune mechanism."

What are the signs and symptoms of myasthenia gravis?

A symptom is something the patient feels and reports, while a sign is something other people, such as the doctor detect. For example, pain may be a symptom while a rash may be a sign.

Muscle weakness severity varies greatly among patients with MG. Sometimes the weakness may be in a localized form, such as just the eye muscles, while in other cases it may be in a severe or generalized form in which many muscles are affected; even those that control breathing.
  • The main feature of myasthenia gravis is the patient's susceptibility to fatigue (fatigability, fatiguability).
  • Muscles become progressively weaker during periods of activity
  • Muscles improve after periods of rest
  • Eye muscles - in over 50% of patients the first signs and symptoms involve eye muscles, including such problems as ptosis (drooping of one or both eyelids), diplopia (double vision), and blurred vision (which may be intermittent). For about 15% of patients only the eye muscles are affected - in such cases their condition is known as ocular myasthenia.
  • Facial muscles - for approximately 15% of patient the first symptoms involve the throat and face muscle. In such cases individuals may have problems with:

    • Speaking (dysarthria) - depending on which muscles are affected, speech may become soft or nasal.
    • Swallowing (dysphagia) - the patient may choke easily, making eating, drinking, swallowing pills harder. Sometimes when the individual tries to drink, the liquid comes out of his/her nose.
    • Chewing - muscles used for chewing may weaken considerably during a meal, especially if the person has been eating something hard or chewy, such as a steak.
    • Facial expressions - some people may develop an unusual or different smile if certain facial muscles are affected.
  • Limbs - the arm and leg muscles may weaken, affecting such activities as lifting or walking (the patient's walk may seem like a waddle). When limb muscles are affected, this generally occurs in conjunction with other muscles in the body, such as the throat, eyes or face.
See a doctor if you have problems:
  • Breathing
  • With your vision
  • Swallowing
  • Chewing
  • Walking
Myasthenic crisis - this is when the respiratory muscles become paralyzed. The patient requires assisted ventilation to stay alive. In patients with already weakened respiratory muscles, myasthenic crises may be triggered by infection, fever, an autonomic nervous system, an adverse reaction to some medication, or emotional stress.

What are the causes of myasthenia gravis?

Myasthenia gravis is an autoimmune disease.

What is an autoimmune disease? It is an illness that develops when the person's body tissues are attacked by their own immune system. Our immune system is a complex organization within the body which is designed to find and destroy foreign undesirable invaders, such as bacteria, toxins, or viruses. If somebody has an autoimmune disease their abnormal antibodies, which circulate in the blood, attack desirable things (things that should be protected and not destroyed), such as body tissues.

In the case of myasthenia gravis, antibodies are produced that block or destroy muscle receptor cells, resulting in fewer available muscle fibers. Our nerves communicate with our muscles by releasing neurotransmitters (type of chemicals) which fit precisely into receptor sites on the muscle cells (muscle receptor cells). Consequently, there is inadequate communication between the nerves and affected muscles; the muscles cannot contract properly and become tired and weak very easily - with fewer receptor sites the muscles receive fewer nerve signals.

Why some people's immune systems make antibodies that attack muscle receptor cells is still unknown. Experts say that the thymus gland (located in the upper chest beneath the breastbone) is probably associated with the production of the abnormal antibodies. The thymus gland is large during infancy and small during adulthood; however, a significant number of adult patients with myasthenia gravis have an abnormally large thymus gland. About 1 in 10 myasthenia patients have a non-cancerous tumor of the thymus gland.

We suspect, but are not sure wheter certain medications or viruses might trigger the onset of myasthenia gravis. Symptoms among patient who already have the disease may worsen with some medications, such as beta blockers, calcium channel blockers, quinine, and some antibiotics. Many believe some people have a genetic propensity to developing the disease.

The following are known to make symptoms worse:
  • Emotional/mental stress
  • Illness
  • Some medications
  • Tiredness
  • Very high temperatures

Diagnosing myasthenia gravis

Patients who experience undue weakness which improves with rest have the hallmark signs of myasthenia gravis (MG) - it is a key sign. A GP (general practitioner, primary care physician) may also suspect MG if the patient has impaired eye movements or muscle weakness which is not accompanied by the loss of the ability to feel things. Nevertheless, as MG shares signs and symptoms with some other conditions, the diagnosis will need to be confirmed.

MG patients whose muscles are weak respond well to the application of ice to the affected area. Some doctors may try this initially as they gather data to help them make a diagnosis.

If the patient sees a GP who suspects possible MG, he/she will most likely be referred to a neurologist (a doctor specialized in the human nervous system) to confirm diagnosis. The following diagnostic tests will probably be ordered:

Edrophonium test - this test is usually only ordered when other tests have not yet yielded a conclusive diagnosis. Edrophonium chloride (Tensilon, Reversol) or neostigmine (Prostigmin) is injected into a vein - the drug clocks the breakdown of acetylcholine by cholinesterase (cholinesterase inhibitors) and temporarily increases the levels of acetylcholine at the neuromuscular junction - put simply, edrophonium bocks an enzyme that breaks down acetylcholine, the chemical that transmits signals from the nerve ending to the muscle receptor sites. Some patients may experience a brief period in which muscle weakness is relieved, especially those with weakness in the eye muscles.

Blood tests - the aim here is to identify certain antibodies:
  • One test is for antibodies against the acetylcholine receptor. This test has a reasonable sensitivity of 80% to 90%. However, it may be as low as 50% in ocular myasthenia patients (those with just eye muscle weakness).
  • Some MG patients without antibodies against the acetylcholine receptor have antibodies against the MuSK protein. A blood test may detect those antibodies.
  • In some rare cases, when the doctor may want to rule out Lambert-Eaton syndrome, the blood test will attempt to detect antibodies against a voltage-gated calcium channel.
Repetitive nerve stimulation - electrodes are attached to the skin over the affected muscles. Small electrical pulses are sent through the electrodes to measure how well the nerves send a signal to the muscle. The electrical pulses will be applied several times to determine whether signals get worse when the muscle is tired.

Single-fiber electromyography (EMG) - this measures the electrical activity that flows between the brain and the muscle. A very fine wire electrode is inserted through the skin, into the muscle. Some patients may find this test uncomfortable. In a more precise version of this test, called single-fiber EMG, a single muscle fiber is tested.

Imaging scans
  • A chest X-ray is commonly performed, as it may point towards alternative diagnoses, such as Lambert-Eaton due to a lung tumor, and comorbidity (the presence of one or more disorders/diseases in addition to a primary disease/disorder, or the effect of such additional disorders or diseases).
  • A CT (computed tomography) or MRI (magnetic resonance imaging) scan may be performed to identify a thymoma (tumor in the thymus gland). CT or MRI scans are better at detecting thymomas than X-rays.
Pulmonary function test (spirometry) - the aim here is to determine whether the patient is breathing adequately. The forced vital capacity (the maximum amount of air a person can expel from the lungs after a maximum inspiration) may be periodically measured so as not to miss a gradual worsening of muscular weakness in the lungs. MG patients with severe symptoms are at risk of respiratory failure due to exhaustion of the respiratory muscles. Respiratory failure is when there is inadequate gas exchange by the respiratory system, with the result that arterial oxygen and/or carbon dioxide levels cannot be maintained within their normal ranges.

Muscle biopsy - this is only done if the diagnosis is in doubt and a muscular condition is suspected. A needle or small incision is used to remove a small sample of muscle. The patient will receive a local anesthetic.

What are the treatment options for myasthenia gravis?

There is no cure for myasthenia gravis. However, most therapies (treatments) are very effective in controlling symptoms. In fact, the majority of MG patients who undergo treatment become completely free of symptoms, and can lead normal (or near normal) lives. In some cases, all that is required to relieve symptoms are adequate sleep and rest.

Cholinesterase inhibitors - such as pyridostigmine (Mestinon) block the action of the chemical that normally makes the muscle relax after it has contracted - they improve communication between nerves and muscles. This medication is very effective for patients with mild MG symptoms; helping the affected muscles contract properly and maintain good strength. Some side effects may include nausea and/or stomach cramps.

Steroids or Immunosuppressants - prednisolone (a steroid drug) or azathioprine (an immunosuppressant drug) may alter the body's immune system and lower the production of antibodies that cause MG. It usually takes about four weeks for the effects of steroids to appear, while azathioprine may take from three to six months.

These medication are usually very effective; either significantly reducing symptoms or getting rid of them altogether.

This type of medication is usually only given to patients who could not have their thymus gland surgically removed, or those whose symptoms did not improve after surgery.

Removal of the thymus gland (thymectomy) - about 15% of MG patients have a tumor in their thymus gland. In such cases a thymectomy is required - the gland is surgically removed.

It is unclear whether the risks of removing the thymus gland outweigh the benefits for MG patients who don't have a tumor. If the patient's symptoms are mild, only involve the eyes, or if he/she is over 60 years of age most doctors will not recommend surgery.

Surgically removing the thymus gland improves symptoms for over 70% of MG patients, and eliminates symptoms completely for 30%. Improvements gradually appear over a period of 12 months; in some cases this may take longer (up to 3 years).

Plasmaphoresis and immunoglobulin therapy - this therapy, which is given in hospital, is used for patients with severe symptoms; specifically patients with life-threatening breathing or swallowing problems.
  • Plasmaphoresis - the procedure depletes the body of blood plasma without depleting the body of its blood cells. Blood is removed from the body, the plasma is separated from the cells, the cells are then suspended in saline (or a plasma substitute or donor plasma), and the reconstituted solution is returned to the patient. Put simply - the blood is taken out of the patient, the abnormal antibodies that cause MG are removed, and the blood is placed back into the patient.
  • Intravenous immunoglobulin therapy - normal antibodies that alter the way the immune system acts are injected into the patient.
Although extremely effective with rapid results, the benefits last no longer than a few weeks. This treatment is a short-term one, used only if the patient is extremely ill.

What are the possible complications of myasthenia gravis?

Myasthenic crisis - the respiratory muscles become so weak that the patient cannot breathe properly. This is potentially a life-threatening complication and requires emergency treatment with mechanical breathing assistance. Plasmaphoresis and immunoglobulin therapies, as well as medications help patients recover.

Thymus tumors - approximately 15% of MG patients have a tumor in the thymus gland. In most cases it is a benign (non-cancerous) tumor. This is treatable.

Thyroid problems - the thyroid gland secretes hormones that regulate our metabolism; it is located in the neck. MG patients may have either an overactive thyroid (hyperthyroidism) or an underactive one (hypothyroidism).

Lupus - an autoimmune disease where the body's immune system becomes hyperactive and attacks normal, healthy tissue. This results in symptoms such as inflammation, swelling, and damage to joints, skin, kidneys, blood, the heart, and lungs.

Rheumatoid arthritis - a chronic (long lasting), progressive and disabling auto-immune disease condition that causes inflammation (swelling) and pain in the joints, the tissue around the joints, and other organs in the human body. Rheumatoid arthritis usually affects the joints in the hands and feet first, but any joint may become affected. Patients with rheumatoid arthritis commonly have stiff joints and feel generally unwell and tired.
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What Is Morton's Neuroma? What Causes Morton's Neuroma?


Morton's neuroma, also called Morton's metatarsalgia, Morton's disease, Morton's neuralgia, Morton metatarsalgia, Morton nerve entrapment, plantar neuroma, or intermetatarsal neuroma is a benign (non-cancerous) growth of nerve tissue (neuroma) that develops in the foot, usually between the third and fourth toes (an intermetatarsal plantar nerve, most commonly of the third and fourth intermetatarsal spaces). It is a common, painful condition.

Put simply - Morton's neuroma is a swollen (inflamed) nerve in the ball of the foot, commonly between the base of the second and third toes.

Patients experience numbness and pain in the affected area, which is relieved by removing footwear and/or massaging the foot.

A neuroma is a tumor that arises in nerve cells - a benign growth of nerve tissue that can develop in various parts of the body. In Morton's neuroma the tissue around one of the nerves leading to the toes thickens, causing a sharp, burning pain in the ball of the foot. A sharp severe pain, often described as a red hot needle may come on suddenly while walking. There may also be numbness, burning and stinging in the toes.

Although it is labeled a neuroma, many say it is not a true tumor, but rather a perineural fibroma (fibrous tissue formation around nerve tissue).

Morton's neuroma may be the result of irritation, pressure or injury. In some cases its cause is unknown. In the majority of cases only one nerve is affected. Having both feet affected is extremely rare. A high percentage of patients with Morton's neuroma are women who wear high-heeled or narrow shoes.

Patients with Morton's neuroma may need to change their footwear, take painkillers or steroid injections, while others may require surgery to either remove the affected nerve or release the pressure on it.

According to Medilexicon's medical dictionary:
    Morton neuroma is "a painful, tender focal mass lesion on one of the plantar interdigital nerves of the foot, most often that which is situated between the third and fourth metatarsal bones; attributed to either compression of the nerve between the heads of the adjacent metacarpal bones, or traction being placed on the nerve as it crosses the anterior edge of the deep transverse metatarsal ligament."

What are the signs and symptoms of Morton's neuroma?

A symptom is something the patient feels and reports, while a sign is something other people, such as the doctor detect. For example, pain may be a symptom while a rash may be a sign.

Outward signs of Morton's neuroma, such as a lump, are extremely rare.

Morton's neuroma signs and symptoms, which usually occur unexpectedly and tend to worsen over time, include:
  • Pain on weight bearing (while walking) - a shooting pain affecting the contiguous halves of two toes, which may be felt after only a short time (of weight bearing). Sometimes there may be a dull pain rather than a sharp one. Most commonly, pain is felt between the third and fourth toes. Typically, a patient will suddenly experience pain while walking and will have to stop and remove their shoe.
  • Burning
  • Numbness
  • Parasthesia - tingling, pricking, or numbness with no apparent long-term physical effect. Commonly known as pins-and-needles.
  • A sensation that something is inside the ball of the foot.
Many patients describe the sensation as a burning pain in the ball of the foot that often radiates to the toes.

Initially, the pain may become much more apparent when the person wears tight, narrow or high-heeled shoes, or engages in activities which place pressure on the foot. Eventually, symptoms may be continuous and last for days, and even weeks.

MRI (magnetic resonance imaging) scans have revealed Morton's neuroma lesions in patients who had no symptoms at all.

Symptoms can become so disrupting that many affected individuals become anxious about walking, or even placing their foot on the ground.

What are the causes of Morton's neuroma?

Experts are not sure what exactly causes Morton's neuroma. It seems to develop as a result of irritation, pressure or injury to one of the digital nerves that lead to the toes, which triggers a body response, resulting in thickened nerve tissue (neuroma).
  • Feet conditions/situations that can cause the bones to rub against a nerve include:

    • High-heeled shoes - especially those over 2 inches (5cm), or a pointed or tight toe box which squash the toes together. This is probably why the condition is much more common in females than in males.
    • High-arched foot - people whose feet have high arches are much more likely to suffer from Morton's neuroma than others.
    • Flat feet - the arch of the foot collapses. The entire sole of the foot comes into complete or near-complete contact with the ground.
    • A bunion - a localized painful swelling at the base of the big toe, which enlarges the joint.
    • Hammer toe - a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent.
  • Some high-impact sporting activities - including running, karate, and court sports. Any sport that places undue pressure on the feet.
  • Injuries - an injury or other type of trauma to the foot may lead to a neuroma.

Diagnosing Morton's neuroma

A GP (general practitioner, primary care physician) or a podiatrist (foot specialist doctor) will ask the patient to describe the pain as well as its intensity, when symptoms started, what types of shoes are worn, as well as some questions about their job, lifestyle and hobbies.

The doctor will then examine the foot and try to locate the affected nerve. This may involve attempting to reproduce symptoms by manipulating the foot.

In order to get a detailed image of the inside of the food, one of the following scans may be ordered:
  • X-ray - this is a type of high-energy radiation. In low doses they are used to diagnose diseases and condition by making pictures of the inside of the body. In higher doses they are used to treat cancer. This procedure is non-invasive and painless.
  • Ultrasound scan - high frequency sound waves are pointed at a specific part of the body, which in this case is the foot. The ultrasound waves bounce of tissues; their echoes are then converted into a picture, called a sonogram. This allows the doctor to get an inside view of the foot. This procedure is non-invasive and painless.
  • MRI (magnetic resonance imagining) - a device that uses a magnetic field and radio waves to create detailed images of the body. Unlike CT scanning or general x-ray studies, no ionizing radiation is involved with an MRI. This procedure is non-invasive and painless.
The doctor will have to rule out other conditions which may have similar symptoms, including capsulitis, bursitis, or Freiberg's disease.

What are the treatment options for Morton's neuroma?

Treatment for Morton's neuroma may depend on several factors, including the severity of symptoms and how long they have been present. The earlier on the condition is diagnosed, the less likely surgery is required.

Doctors will usually recommend self-help measures first. These may include:
  • Resting the foot
  • Massaging the foot and affected toes
  • Using an ice pack on the affected area (skin should not be directly exposed to ice, the ice should be in a container or wrapped in something)
  • Changing footwear - wearing wide-toed shoes, or flat (non high-heeled) shoes
  • Trying arch supports (orthotic devices). A type of padding that supports the arch of the foot, removing pressure from the nerve. The doctor may recommend a custom-made, individually designed shoe-insert, molded to fit the contours of the patient's foot. There are several OTC (over the counter, non-prescription) metatarsal pads or bars available which can be placed over the neuroma.
  • Taking OTC (over-the-counter, non-prescription) painkilling medications
  • Modifying activities - avoiding activities which put repetitive pressure on the neuroma until the condition improves.
  • Bodyweight management - if the patient is obese the doctor may advise him/her to lose weight. A significant number of obese patients with foot problems, such as flat feet, who successfully lose weight experience considerable improvement of symptoms.
If symptoms are severe or persistent and self-help measures did not help, the doctor may recommend:
  • Corticosteroid injections - a steroid medication that reduces inflammation and pain is injected into the area of the neuroma. Only a limited number of injections are advised, otherwise the risk of undesirable side effects increases, including hypertension (high blood pressure) and weight gain.
  • Alcohol sclerosing injections - studies have shown that alcohol injections reduce the size of Morton's neuromas as well as alleviating pain. This is a fairly new therapy and may not be available everywhere. The doctor injects alcohol in the area of the neuroma to help sclerose (harden) the nerve and relieve pain. Injections are typically administered every 7 to 10 days. For maximum relief 4 to 7 injections are usually needed.
  • Surgery - if other therapies have not worked it may be necessary to perform surgery. As surgery may result in permanent numbness in the affected toe, doctors ten to use this procedure as a last resort. However, in most cases surgery is extremely effective.

    The patient usually receives a local anesthetic.

    Surgery involves either removing the nerve, or removing the pressure on the nerve. Two surgical approaches are possible:

    • The dorsal approach - the surgeon makes an incision on the top of the foot, allowing the patient to walk soon after surgery, because the stitches are not on the weight-bearing side of the foot.
    • The plantar approach - the surgeon makes an incision on the sole of the foot. In most cases the patient will be in crutches for about three weeks. The resulting scar may make walking uncomfortable. However, with this approach the neuroma can be reached easily and resected without cutting any structures.
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Calcium Supplements May Increase Risk Of Heart Attacks


An international team of researchers that reviewed data from several trials found that taking calcium supplements was linked to a higher risk of heart attack and other cardiovascular events; the authors called for new research to re-assess the role of calcium supplements in the treatment of osteoporosis.

In the 29 July online issue of the BMJ you can read a report on how Dr Ian Reid, a professor of Medicine at the University of Auckland in New Zealand, and colleagues from the University of Aberdeen in the UK and Dartmouth Medical School in the US, found that people taking calcium supplements had between 27 and 31 per cent higher risk of heart attack than counterparts who took placebo.

Reid and colleagues also found smaller, but non-significant, increases in the risk of stroke and death.

Many older people take calcium supplements for osteoporosis. This is probably because research shows calcium supplements may marginally reduce the risk of fracture, and most guidelines suggest people make sure their diet contains enough calcium as a way to protect against or manage osteoporosis, wrote the researchers in their background information.

But a recent trial found calcium supplements may increase the rate of heart attack (myocardial infarction) and cardiovascular events in healthy older women, so Reid and colleagues decided to investigate further by conducting a meta-analysis (a study that pools and re-analyzes results from lots of other studies and as if they belonged to one giant study).

They searched established sources for published reports of trials that met their criteria. The trials had to be randomized, placebo-controlled trials that ran for at least one year and examined the effect of calcium supplements (dose of 500 mg per day or higher) on at least 100 participants of average age of 40 years.

They found 15 trials that matched their criteria: 5 had patient-level data covering over 8,000 participants over a median follow-up of 3.6 years, and 11 had trial-level data covering nearly 12,000 participants and a mean duration of 4 years.

For the 5 studies that yielded patient-level data, the researchers found:
  • A 31 per cent higher risk of heart attack in the people who took calcium supplements compared to those who took placebo (143 on calcium versus 111 on placebo; hazard ratio HR 1.31, 95 per cent confidence interval CI ranged from 1.02 to 1.67, statistical significance P=0.035).

  • An increase in stroke risk, but this was not significant (HR 1.20, 95% CI 0.96 to 1.50, P=0.11).

  • Non-significant increases in risk of death and a composite end-point comprising sudden death, heart attack or stroke.
For the 11 studies that yielded trial-level data, they found a similar pattern:
  • 27 per cent higher risk of heart attack in the people who took calcium supplements compared to those who took placebo (166 vs 130, pooled relative risk 1.27, 95% CI 1.01 to 1.59, P=0.038).
Reid and colleagues concluded that:

"Calcium supplements (without coadministered vitamin D) are associated with an increased risk of myocardial infarction."

They found the results were independent of age, sex, and type of supplement and consistent across trials.

Although the risk they found was not large, because so many people take supplements it could mean a large burden of disease in the population as a whole, warned the authors.

Other studies have shown that people with high calcium intake that comes from their diet as opposed to supplements do not have a higher risk of heart attack or stroke, suggesting that perhaps the risk is limited to supplements.

Given that calcium supplements only modestly improve bone density and prevent fracture, their role in the management of osteoporosis should be re-assessed, urged the authors.

In an accompanying editorial, John Cleland a cardiology professor at the University of Hull in the UK, and colleagues, wrote that as a general rule, people with osteoporosis should only receive calcium supplements, either alone or with vitamin D, if they are also undergoing effective treatment for osteoporosis.

"Effect of calcium supplements on risk of myocardial infarction and cardiovascular events: meta-analysis."
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What Is Androgen Insensitivity Syndrome (AIS)? What Causes Androgen Insensitivity Syndrome?

Androgen insensitivity syndrome is a genetic disorder in which the XY fetus is unresponsive (insensitive) to androgens. Androgens are male hormones, such as testosterone. A baby with androgen insensitivity syndrome is born externally like a normal girl. However, internally they have a short blind-pouch vagina, and no ovaries, fallopian tubes or womb (uterus). The testes are in the inguinal canal or abdomen.

In other words, androgen insensitivity syndrome is a condition in which the development of the genitals and reproductive organs are affected.

Very early on, all unborn babies have identical genitals, regardless of whether they are female or male. A pair of sex chromosomes in the baby - XX or XY - determines whether they develop male (XY) or female (XX) genitals and reproductive organs.

XX and XY sex chromosomes

Sex chromosomes are a pair of DNA molecules, called X or Y, that decide our sexual development.
  • A female has two X chromosomes - XX
  • A male has one X and one Y chromosome - XY
The Y chromosome stimulates the development of the testes and halts the development of female ovaries. If no Y chromosome is present, the female reproductive system and genitals develop automatically.

Androgen insensitivity syndrome - a baby with androgen insensitivity syndrome is born with an XY set of hormones - so it should develop male genitals and reproductive organs. The testes (testicles), the male reproductive organs, produce androgens (male hormones), which make the human develop male characteristics and sex organs (such as the penis).

If the human is insensitive or ignores the androgen, the testes will stay inside the body (instead of coming down to the scrotum) and genitals will develop along female lines.

There are two forms of androgen insensitivity syndrome:
  • Complete androgen insensitivity syndrome (CAIS) - the human is completely insensitive to androgen. External genitals develop along purely female lines. The majority of babies who are born with CAIS are brought up as daughters.
  • Partial androgen insensitivity syndrome (PAIS) - there is some sensitivity to androgen, but less than normal. How the genitals develop depends on how sensitive that human is to androgen. The individual may look completely male or female, or neither (in between). Some may have a slightly enlarged clitoris while others have a penis which is almost fully formed. Babies born with PAIS may be brought up as sons or daughters, depending on their degree of androgen sensitivity and subsequent genital development.
Intersex conditions versus gender dysphoria

An intersex condition, such as androgen insensitivity syndrome, is when something went wrong in the development of the baby's reproductive organs and genitals because the body was insensitive (unresponsive) to androgen.

In a case of gender dysphoria the reproductive organs and genitals developed normally, but the individual feels their gender is wrong - a person who is physically completely male feels he is female, or vice versa. Gender dysphoria is also known as trans-sexuality or being transgender.

How common is androgen insensitivity syndrome (AIS)?

Approximately 1 in every 20,400 male births has AIS. Complete AIS (CAIS) is believed to be more common than Partial AIS (PAIS).

Individuals with AIS have normal life spans (life expectancies). Many will need hormone therapy and psychological support.

According to Medilexicon's medical dictionary Androgen resistance syndromes are "a class of disorders associated with 5α-steroid reductase deficiency, testicular feminization, and related disorders."

What are the signs and symptoms of androgen insensitivity syndrome (AIS)?

Males born with androgen insensitivity syndrome (AIS) will be infertile, unless their condition is extremely mild. All females born with AIS will be infertile because their development of internal organs is undermined by the presence of male hormones from testes in the body. Females born with AIS do not have a womb (uterus), fallopian tubes or ovaries.

Signs and symptoms of CAIS (complete androgen insensitivity syndrome):

About 50% of all babies born with CAIS eventually have a hernia due to undescended testes. The hernia is the first indication of possible androgen insensitivity syndrome - there are no external signs in newborn babies.

Signs and symptoms, which mostly appear during puberty include:
  • No or extremely little underarm and pubic hair
  • Acne, which is linked to puberty, does not occur
  • Females do not start having menstrual periods because they have no ovaries
  • Females with CAIS have a shorter-than-normal vagina
Signs and symptoms of PAIS (partial androgen insensitivity syndrome):

A child's level of androgen insensitivity dictates how he/she develops. Those whose insensitivity is higher will develop as girls during adolescence, while those whose insensitivity is low will develop as boys (with perhaps some development of breasts).

Sometimes a PAIS baby may initially be brought up as a son, but become more female as puberty arrives. Hormone therapy may help direct puberty towards a specific gender. Parents may choose to postpone puberty until the child is old enough to decide for himself/herself.

Androgen insensitivity syndrome (AIS) grading system:

The AIS grading system goes from 1 to 7, with 7 being the highest androgen insensitivity. 1 to 6 are people with PAIS (partial androgen insensitivity syndrome), while 7 is CAIS (complete androgen insensitivity syndrome):
  • Grade 1 (PAIS) - the individual has male genitals and is likely to be infertile.
  • Grade 2 (PAIS) - there are predominantly male genitals, which are small. The urethra may not end at the end of the penis, but at the underside of the shaft or somewhere else (hypospadia). The child may have undescended (internal) testes (testicles) - known as cryptorchidism.
  • Grade 3 (PAIS) - there are predominantly male genitals, however they are very small. Possible hypospadias and internal (undescended) testes.
  • Grade 4 (PAIS) - genitals are ambiguous. There may be a penis, but it is impossible to tell whether it is a clitoris or a penis (phallic structure that is indistinguishable between a penis and a clitoris).
  • Grade 5 (PAIS) - genitals are essentially female, with separate urethral and vaginal passages. The clitoris may be larger than normal.
  • Grade 6 (PAIS) - the genitals are female, and there is pubic and underarm hair.
  • Grade 7 (CAIS) - the genitals are female, but there is no (or very little) pubic and underarm hair.
People with Grade 6 or 7 are visibly indistinguishable before puberty.

What are the causes of androgen insensitivity syndrome?

Each embryo, whether male (with XY chromosomes) or female (XX chromosomes) starts off with the capacity to develop either a female or male reproductive system. During its first 8 weeks of life the embryo has non-specific genitals - in other words, they are all the same. A few weeks later, a healthy XY fetus' non-specific genitals develop into male ones due to the effects of androgens (male hormones) - the androgens are produced by the testes. (An embryo is an unborn, developing child during the first three months of pregnancy, after that it is called a fetus).

The genes that produce androgen receptors are faulty in people with AIS (androgen insensitivity syndrome). Androgen (a hormone) does not work properly until it locks onto androgen receptors (receptor molecules) and cells cannot react to the androgen, or the reaction is too weak. Put simply - a person with AIS does not have enough androgen receptors because of a gene mutation (fault, alteration).

An individual with CAIS (complete androgen insensitivity syndrome) does not react to androgen at all, resulting in male genitals and reproductive organs failing to develop.

In about 30% of cases of AIS, the mutation of the androgen receptor gene first occurs in the family either when the eggs of the mother are being formed, or in one of the embryo cells soon after conception. Experts are not sure why.

In other cases the mutated gene is inherited from the mother (the carrier) as part of the X chromosome.

If a female baby has one faulty X chromosome she will be a carrier, because the 'good' X chromosome will balance out its effect (females have XX chromosome pairs while males have XY pair). However, that female baby will be a carrier - her female offspring may be carriers and her male offspring may have AIS.

If a female has one mutated X chromosome, in each pregnancy there is a:
  • 1 in 4 chance that her unaffected baby girl can pass on the mutated gene to her children
  • 1 in 4 chance of having a normal son with a normal X and normal Y chromosome
  • 1 in 4 chance that her daughter is not affected and is not a carrier; the daughter has two normal X chromosomes
  • 1 in 4 chance of having a child with AIS (mutated X and normal Y chromosome)

Diagnosing androgen insensitivity syndrome (AIS)

PAIS (partial androgen insensitivity) is usually diagnosed when the baby is born because the genitals look different.

Most cases of CAIS (complete androgen insensitivity syndrome) are diagnosed in the following circumstances:
  • A prenatal amniocentesis discovers male karyotype (male chromosome XY) which are not matched by ultrasound, or obvious female features at birth.
  • A lump in the inguinal canal is found to be a testis.
  • Surgery of the abdomen to repair an inguinal hernia or appendicitis discovers the presence of testes, or no uterus and ovaries. Even if there is no inguinal lump perhaps 1% of girls receiving surgery for inguinal hernia are found to have AIS.
  • The girl or her family seek medical advice because her first menstrual cycle (menarche) has not come.
  • The child or family seek medical advice because no pubic/underarm hair appears.
  • A woman seeks medical advice because she has difficulty with sexual intercourse.
  • A woman seeks medical help for infertility.
A child with CAIS who does not develop a hernia may not be diagnosed until later in life

Blood test - this can confirm a diagnosis of AIS by measuring hormone levels, as well as detecting the altered (mutated) X chromosome.

Ultrasound scan - this device uses ultrasound waves which bounce off tissues; the echoes are converted into a sonogram (an image) which the doctor can see on a monitor. The doctor can get an inside view of soft tissues and body cavities. If AIS is suspected this scan can confirm the absence of a uterus, fallopian tubes and ovaries.

Before the baby is born - after the 11th week of pregnancy AIS can be diagnosed by chorionic villus sampling in which cells from the placenta are taken. From the 15th week of pregnancy amniocentesis can be performed, in which a sample of fluid around the baby is taken out and tested.

AIS is rare and unborn babies are not routinely tested, unless there is a family history of it.

What are the treatment options for androgen insensitivity syndrome?

Children with CAIS (complete insensitivity syndrome) are usually raised as girls because they have female genitals. In other cases the parents will have to decide whether their child should be raised as a son or daughter - this may be difficult decision if the child has PAIS (partial androgen insensitivity syndrome) and their genitals have both male and female features.

Parents should receive advice and counseling from psychologists and medical specialists regarding their child's future development, and the gender that child is most likely to identify with.

The majority of children with PAIS continue keeping the gender they were assigned when they were born. However, some may feel this does not represent their true identity, and change their gender.

Genital reconstructive surgery - this used to be done when the child was very young and a gender had been assigned to him/her. However, these days most doctors postpone genital reconstructive surgery until the child is old enough to decide what to do.

Orchidectomy (removing the testes) - women with CAIS (complete androgen insensitivity syndrome) are advised to have their testes surgically removed, mainly because they can become cancerous. According to the National Health Service (NHS), UK, approximately 9% of women with CAIS develop cancer (extremely rare before puberty).

Orchidectomies used to be performed when the child was very young. These days, however, doctors prefer to wait until the girl has completed puberty. The testes can help convert androgen (the male hormone) to estrogen (the female hormone), allowing the girl to develop a normal female body without hormone treatments being required.

Orchiopexy - surgery to bring down an undescended testis to the scrotum. Boys with hypospadias - in which the urethra does not end where it should, at the tip of the penis - may need surgery to straighten their penis to that they can urinate standing up.

Lengthening the vagina - this is done to make sexual intercourse easier. Doctors used to recommend doing this procedure before puberty. Now they tend to wait until after puberty so that the woman can decide whether to have it done. A method called dilation, in which the vagina is gradually widened and deepened with the use of small plastic rods is usually used. Vaginoplasty, a surgical procedure is also possible.

Clitoris reduction - a woman with PAIS (partial androgen insensitivity syndrome) may decide to have her clitoris surgically reduced, and her vaginal opening enlarged. There is a risk of losing some sensitivity in the clitoris, although losing the ability to reach orgasm is very rare.

Hormone therapy - this may be required for women with CAIS who have had their testes removed and have completed puberty. They will have to take estrogen supplements to prevent menopausal symptoms, including the developing of osteoporosis (weak bones). Estrogen may also stop them from becoming too tall - their Y chromosome carries genes for extra height.

If the testes are removed when the child is young (or a baby) hormone treatment usually begins when they are 10 or 11 years old - the aim is to initiate puberty.

Some children with PAIS may also require hormone supplements. Girls who have undergone an orchidectomy (removal of testes) may require a combination of androgen and estrogen to encourage female development. Boys with PAIS may require androgen supplements to encourage certain male features, such as the growth of facial hair and the deepening of their voice.

Psychological support - this is crucial for both the individual with AIS as well as their parents.

Parents may be shocked when they are told their child has AIS - feelings of shame, anger, guilt, anxiety, and despair can overwhelm and linger. A well-qualified counselor can help parents come to terms with their feelings. The National Health Service (NHS), UK, says that talking to other parents who also have a child with AIS is often helpful.

For a young child with AIS, whose condition is a natural part of his/her life, psychological support may not be necessary. However, for some parents it is difficult to decide what to tell their child, and when. The majority of health care professionals and experienced parents agree that it is probably best to explain the basic facts as soon as possible; gradually adding more information as the child's ability to understand more complex information develops. The NHS adds that a child should ideally understand their condition fully by the time they reach puberty. Puberty is a stressful time for any child, and the pressure to be the same as peers is enormous. Not preparing the child before this period can prove traumatic.

An older child may need and benefit from the support of a well-qualified and experienced therapist. It is recommended that both child and therapist build up a long-term relationship.

If CAIS is not diagnosed until the girl has begun puberty, it can turn out to be a dreadful shock for both the girl and her parents. Psychological counseling should be available for both child and parents.

It is important to stress that with good and appropriate care and support, most people with AIS come to terms with their condition and live normal, productive and happy lives.

Genetic counseling - people who are found to be carrying the mutated X chromosome; who have the potential to have children with AIS, should be offered genetic counseling. The aim of genetic counseling is to provide information about androgen insensitivity syndrome, what effect it may have on the carrier's life, and what options there are for the future.
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Some People Control HIV Without Drugs Due To 5 Amino Acids In A Protein


Tiny differences in five amino acids in HLA-B, a protein, are linked to whether people can control levels of HIV (human immunodeficiency virus) with just their immune systems, an international team of researchers wrote in the journal Science. These small variants in the protein appear to alert the immune system that there is an infection.

Co-senior author Bruce Walker, MD, director of the Ragon Institute, said:

We found that, of the three billion nucleotides in the human genome, just a handful make the difference between those who can stay healthy in spite of HIV infection and those who, without treatment, will develop AIDS. Understanding where this difference occurs allows us to sharpen the focus of our efforts to ultimately harness the immune system to defend against HIV.


Co-senior author, Paul de Bakker, PhD, of the Broad Institute and Brigham and Women's Hospital, said:

Earlier studies had showed that certain genes involved with the HLA system were important for HIV control. But they couldn't tell us exactly which genes were involved and how they produced this difference. Our findings take us not only to a specific protein, but to a part of that protein that is essential to its function.

The authors explain that approximately 1 in every 300 patients infected with HIV is naturally able to undermine viral replication just with their immune system, resulting in permanent very low viral loads.

Such people are known as HIV Controllers, or simply Controllers.

Florencia Pereyra, MD, at the Ragon Institute, set up the International HIV Controllers Study in 2006, in order to determine what genetic features drove this unique ability to keep viral loads down naturally. Their aim was to enroll 1,000 HIV controllers from clinics and centers of research worldwide. So far, 1,500 controllers have been enrolled and the goal was upped to 2,000 of them.

This study started with a GWAS (genome-wide association study) of nearly 1,000 controllers and 2,600 patients with progressive HIV infection, provided through a collaboration with the AIDS Clinical Trials Group.

The GWAS located about 300 sites that were statistically linked to HIV immune control - all 300 sites were in chromosome 6, in the regions that code for HLA proteins. The scientists eventually pinned down the gene sites to four, but could not tell whether they were just located close to casual variants or really had an impact on viral control.

They could not fully sequence that genome region in all participants. They used a process developed by Sherman Jia to identify specific amino acids - directly testing those sites linked 5 amino acids within the HLA-B protein with variations in viral control. Sherman Jia is a medical student in the Harvard-MIT Health Sciences and Technology program.

HLA-B plays a vital role in the immune system's process of identifying and destroying cells which are infected by virus. HLA-B usually attaches onto viral peptides (protein segments) inside the cell and carries them to the cell's membrane where CD8 "killer" T cells are flagged to destroy the infected cell.

All the 5 identified amino acid sites are in the lining of the binding pocket - the part of the HLA-B protein that grabs and displays the viral peptides.

Bakker said:

Amino acid variation within the HLA-B binding pocket will impact its shape and structure, probably resulting in some peptides being presented effectively and others not. Our work demonstrates that these variants could make a crucial difference in the individual's ability to control HIV by changing how HLA-B presents peptides from this virus to the immune system.


Walker added:

HIV is slowly revealing its secrets, and this is yet another. Knowing how an effective immune response against HIV is generated is an important step toward replicating that response with a vaccine. We have a long way to go before translating this into a treatment for infected patients and a vaccine to prevent infection, but we are an important step closer.


The researchers stress that this study could not have occurred without the participation of the HIV controllers who enrolled in the study. A significant number of them travelled a great distance to Boston for tests.

Pereyra said:

The enthusiasm among the patients we have enrolled and the HIV providers who referred them has been amazing. They tell us that being part of this collaborative study means a lot to them.
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What Is Blepharitis? What Causes Blepharitis?

Blepharitis is inflammation usually involving the part of the eyelid where the eyelashes grow - the eyelid margins. The eyes can eventually become red, irritated and itchy, with dandruff-like crusts appearing on the eyelashes. Blepharitis occurs when the small oil glands near the base of the eyelashes don't work properly, either because of a bacterial infection or some complication of a skin condition, such as seborrheic dermatitis (seborrheic dermatitis that affects the scalp is called dandruff).

Blepharitis is a chronic (long-term, recurring) condition that is not easy to treat - lubricating drops often do little to improve the condition. As well as being uncomfortable it may also be unattractive. However, it does not generally cause any permanent vision damage.

There are two forms of blepharitis:
  • Anterior blepharitis - the outside of the eyelid is affected; where the eyelashes are attached. Mainly caused by Staphylococcus (bacterium) and scalp dandruff.
  • Posterior blepharitis - the moist inside part of the eyelid is affected. It is caused by problems with the Meibomian glands in this part of the eyelid. The Meibomian glands make a lubricant called sebum, which is discharged through tiny openings in the edges of the eyelids. Posterior blepharitis is mainly caused by rosacea and scalp dandruff (seborrheic dermatitis). Rosacea is a chronic, inflammatory skin condition which principally affects the face.
People commonly have repeated episodes of blepharitis - it is a chronic condition (either long term or keeps coming back).

According to the National Health Service (NHS), UK, approximately 5% of all GP (general practitioner, primary care physician) visits related to eye problems are cases of blepharitis. Blepharitis is not usually a serious condition and complications are very rare.

According to Medilexicon's medical dictionary:
    Blepharitis is "Inflammation of the eyelids."

What are the signs and symptoms of blepharitis?

A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.

Typically, a patient will have recurring episodes of blepharitis, with long periods of total remission (no symptoms at all) in between. Signs and symptoms, which are usually more severe in the morning and affect both eyes, may include:
  • Red, sore and itchy eyelids
  • A burning sensation in the eyes
  • A gritty/sandy sensation in the eyes
  • Crusty eyelashes
  • Eyelashes may grow abnormally (misdirected)
  • Eyelids appear greasy
  • Eyelids may stick together when waking up after sleep
  • Flaky skin around the eyes
  • Loss of eyelashes
  • Photophobia - sensitivity to light
  • Red eyes
  • Watery eyes

What are the causes of blepharitis?

There are two types of blepharitis - anterior and posterior blepharitis:
  • Anterior blepharitis - the outside front edge of the eyelids are inflamed; i.e. where the eyelashes are connected.

    A significant number of cases of anterior blepharitis are caused by a bacterial infection, specifically staphylococcal infection, known as staphylococcal blepharitis.

    Seborrheic dermatitis causes oily skin which may irritate the eyelids (excess oil), and also provide an ideal environment for bacteria to multiply rapidly. If it is caused by seborrheic dermatitis, it is called seborrheic blepharitis.
  • Posterior blepharitis - the inside front edge of the eyelids are inflamed; where the eyelid comes into contact with the eye. Meibomian glands in this part of the eyelid produce an oily substance that makes up the top layer of our tears - the substance keeps the tears in place, as well as protecting the eye. Posterior blepharitis occurs when something affects the meibomian glands. The proper workings of these glands may be affected by rosacea or seborrheic dermatitis.

    Seborrheic dermatitis may cause the glands to produce excessive amounts of oil; providing an ideal environment where bacteria can multiply rapidly.

    Rosacea can result in the under-production of oil, leading to tears not properly protecting the eye, which becomes susceptible to infection. Ocular rosacea is rosacea that affects the eye. Approximately half of all patients with rosacea will have eye symptoms. According to the National Health Service (NHS), UK, patients taking antibiotics for rosacea will probably not develop ocular rosacea.

    The term Meibomian blepharitis refers to blepharitis cause by problems with the Meibomian gland.
Blepharitis may also be (rarely) caused by an infestation of lice on the eyelashes, or an allergic reaction to, for example, eye medications, contact lens solutions or eye makeup.

Diagnosing blepharitis

A GP (general practitioner, primary care physician), usually the first health care professional a patient will see, can usually diagnose blepharitis after asking the patient questions regarding symptoms, and carrying out a medical examination of the eyes; as well as checking for any medical conditions which may be linked to the condition, such as rosacea or seborrheic dermatitis.

If symptoms are particularly severe, or if the patient has any loss or vision, the GP may refer him/her to an eye specialist doctor (ophthalmologist). The doctor may sometimes collect a sample of crust or oil from the eyelid - this will be checked for bacteria, fungi, or perhaps an allergy.

What are the treatment options for blepharitis?

  • Keeping the eyes clean - thorough eye hygiene is a crucial part of blepharitis treatment. Eyelids should be cleaned at least once a day, regardless of whether any symptoms are present. Experts say the ritual of eye hygiene should be followed as closely as body washing or brushing one's teeth. Good eye hygiene not only reduces the severity of blepharitis symptoms, but also how often recurrences occur.

    Patients with symptoms or those who risk recurrences of symptoms should place a warm compress over their closed eyelids for about five to ten minutes. The compress should be rubbed, very gently, over the eyelids for a couple of minutes - this will help dislodge the crusting.

    Using warm water with a tiny amount of baby shampoo, the eyelids should be cleaned with a cotton bud. A teaspoon of sodium bicarbonate dissolved in a cup of water is also possible. Some specific products are also available in pharmacies - ask your doctor or pharmacist. In order to prevent accidental injuries, the cleaning should be done in front of a mirror. If symptoms are severe the patient may have to do this several times a day.

    Eye makeup should be avoided, or at least cleaned off immediately after it is no longer needed.
  • Antibiotic creams - the doctor may prescribe a four to six week course of antibiotic cream/ointment if the symptoms did not respond well enough to eye-hygiene treatment. When using the cream/ointment patients should avoid using contact lenses. Those who experience blurry vision should not drive.
  • Oral antibiotics - the doctor may prescribe oral antibiotics if other treatments have not worked well enough. If the patient has rosacea, oral antibiotics will be prescribed if blepharitis symptoms develop. Most courses last for about six weeks. Patients should start experiencing positive results with two to four weeks. Prolonged exposure to sunlight should be avoided when taking antibiotics for blepharitis.
  • Steroid eyedrops/ointments - these may help reduce inflammation in the eyes and eyelids.
  • Artificial tears - if the eyes are dry, lubricating eyedrops or artificial tears may help.
If the blepharitis is caused by an underlying condition, that condition must be treated.

Even when treatment is successful, recurrences are common.

What are the possible complications of blepharitis?

  • Misdirected eyelashes - blepharitis may cause eyelashes not to grow in the way they are supposed to. They may grow in unusual directions, or inwardly.
  • Eyelid scarring - long-term blepharitis can eventually lead to scarring on the eyelids.
  • Sty - a tender bump on the eyelid caused by an acute infection of the oil glands in the eyelid.
  • Chalazion (Meibomian cyst) - one of the oil glands in the eyelid becomes blocked and infected with bacteria, causing swelling and reddening. It is like a sty, but occurs inside the eyelid.
  • Conjunctivitis (pink eye) - There is a thin layer of cells (membrane) between the inner surface of the eyelids and the whites of the eyes, called the conjunctiva. Conjunctivitis is when the conjunctiva becomes inflamed. Another name for conjunctivitis is pink eye. Inflammation causes tiny blood vessels (capillaries) in the conjunctiva to become more prominent, giving the eye a red or pink look. People with blepharitis can suffer from recurrent episodes of conjunctivitis.
  • Dry eye syndrome (keratoconjunctivitis sicca) - a common complication of blepharitis. Either the eyes do not make enough tears or they evaporate too rapidly, leading to eyes that dry out and become inflamed. Dry eye syndrome may occur because conditions linked to blepharitis, such as rosacea and seborrheic dermatitis may change the consistency of tears. Dry eyes are commonly treated with artificial tears which can be purchased OTC (over-the-counter, no prescription required) at pharmacies.
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Bedtime Texting, Internet Use, Disturbs Sleep And Mood In Teens

More than half of children and teenagers who text, or surf the internet at bedtime are likely not only to have problems falling asleep, but experience mood, behavior and cognitive problems during the day, said US researchers at a conference in Canada this week, who also found that on average, a teenager sends a total of over 3,400 electronic messages at bedtime every month.

The pilot study, by lead author Dr Peter G. Polos and and colleagues, from the JFK Medical Center, in Edison, New Jersey, was presented at the CHEST 2010, the 76th annual meeting of the American College of Chest Physicians (ACCP), which is taking place this week in Vancouver, from 30 October to 4 November.

Polos told the media that one of the most surprising things they discovered was the number of texts and emails each child sent per night, on average they found this to be 33.5.

"It is significant that these children are engaging in stimulating activity when they should be in an environment to promote sleep," he added.

Polos and colleagues analyzed questionnaire responses from 40 children and young people aged between 8 and 22 and found that those who used electronic technology to do things like text, send emails, surf the internet and play online games at bedtime not only experienced sleep-related problems such as excessive movements, leg pain and insomnia, but also had a "high rate of daytime problems, which can include attention deficit hyperactivity disorder [ADHD], anxiety, depression, and learning difficulties", said Polos in a statement.

For the STRICT (sleep time related information and communication technology) study, the researchers analyzed participants' responses to a modified version of the Children's Sleep Habits Questionnaire (CSHQ), completed between September 2009 and May 2010. The participants, whose mean age was 15, were patients attending the JFK Sleep Clinic.

The CSHQ covers 19 items and includes questions about sleep/wake patterns, measures of daytime sleepiness, mood and cognition. There were also questions about type, duration and frequency of information and communication technology (ICT) use, and questions about limits set by parents.

The analysis showed that:
  • 77.5 per cent of the participants had persistent problems falling asleep.

  • On average, participants were woken once per night by an ICT device.

  • On average, a participant sent 33.5 emails or texts per night when they were supposed to be asleep; and the average number of people texted each night was 3.7.

  • The average number of messages sent via ICT per person per month at sleep time was 3,404 and occurred over periods ranging from 10 minutes to 4 hours after bedtime.

  • Among the adolescent participants, the older they were, the later they went to bed, and the more time they spent with their ICT devices at bedtime.

  • Boys were more likely to use ICT to surf the net and play online games, while girls were more likely to text and make cell phone calls.

  • High rates of cognitive and mood problems during the day were linked with sleep time related use of ICT, including ADHD, anxiety, depression, and learning difficulties.

  • There were also higher rates of nighttime problems such as excessive movements, leg pain and insomnia.
Polos and colleagues concluded that use of ICT at bedtime may have "an adverse impact on sleep hygiene and daytime function which may be significant", and that questions about this should be included in routine evaluations of patients reporting problems sleeping.

"These data suggest that further studies are needed to evaluate the short and long term consequences of STRICT on sleep," they wrote.

Polos explained that "sleep is largely habitual in nature", and if "children begin this type of behavior, they may set themselves up for the need for external stimulation before sleep later in life".

This could lead to problems like difficulty falling asleep, not having enough sleep, and feeling sleepy during the day, he said adding that:

"More research is needed to determine all of the short- and long-term consequences."

Many parents know that healthy sleep habits are especially important to ensure progress at school and healthy development, and are concerned about how best to handle the growing problem of ICT devices in the bedroom.

Polos said that using cell phones or computers, to talk, text, surf the net, or play games, is "more addictive, seductive, and interactive than passively watching television," because of the graphics, rapid responses and interactivity.

"The sooner parents establish appropriate times for children to use this technology, the better," he urged, adding that perhaps they should also "move key items, such as computers, from a child's bedroom into a common area".

Dr David Gutterman, President of the American College of Chest Physicians said concern about insomnia and other sleep disorders in children is growing and that "research shows that the problem is increasing, so it is more important than ever for physicians to ask questions about technology use when evaluating children for sleep issues".

"The Effect of Sleep Time Related Information and Communication Technology (STRICT) on Sleep Patterns and Daytime Functioning in Children and Young Adults: A Pilot Study."
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Blood Pressure Lowered By Nitrate In Beetroot Juice

The nitrate content of beetroot juice is the underlying cause of its blood pressure lowering benefits, research from Queen Mary University of London reveals.

The study, published online in the American Heart Association journal Hypertension, found that blood pressure was lowered within 24 hours in people who took nitrate tablets, and people who drank beetroot juice.

The research will be welcome news to people with high blood pressure who might now be able to use a new 'natural' approach to reduce their risk of cardiovascular disease (including stroke and heart attacks) - the world's biggest killer.

Study author Amrita Ahluwalia, Professor of Vascular Biology at Queen Mary's William Harvey Research Institute, said the investigation was able to demonstrate that the nitrate found in beetroot juice was the cause of its beneficial effects upon cardiovascular health by increasing the levels of the gas nitric oxide in the circulation

Professor Ahluwalia said. "We gave inorganic nitrate capsules or beetroot juice to healthy volunteers and compared their blood pressure responses and the biochemical changes occurring in the circulation.

"We showed that beetroot and nitrate capsules are equally effective in lowering blood pressure indicating that it is the nitrate content of beetroot juice that underlies its potential to reduce blood pressure. We also found that only a small amount of juice is needed - just 250ml - to have this effect, and that the higher the blood pressure at the start of the study the greater the decrease caused by the nitrate.

"Our previous study two years ago found that drinking beetroot juice lowered blood pressure; now we know how it works."

The results of the study could pave the way for a natural approach to lowering blood pressure that ultimately may help reduce the currently massive burden of cardiovascular disease on the NHS.
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What Is Antiphospholipid Syndrome (Hughes Syndrome)? What Causes Antiphospholipid Syndrome?

Antiphospholipid Syndrome, also known as Antiphospholipid Antibody Syndrome, APS, APLS, Hughes Syndrome, or Sticky Blood is an immune disorder in which there are abnormal antibodies linked to abnormal blood clots within veins and arteries - especially in the legs, as well as problems with pregnancy, such as recurring miscarriages and premature births. The abnormal antibodies attack fats that contain phosphorous (Phospholipids). Approximately 1 in every 3 patients with antiphospholipid syndrome has heart valve abnormalities.

Patients more commonly develop DVT (deep vein thrombosis) - blood clots that form in the legs; however, clots may also form in the kidneys, lungs and other organs. If a clot develops in the brain there is a serious risk of stroke.

There is no cure for Hughes Syndrome. However, current treatments may significantly reduce the patient's risk of developing blood clots.

Antiphospholipid syndrome is an autoimmune condition - the person's immune system produces antibodies called antiphospholipid antibodies. These are abnormal antibodies, which attack proteins and fats in the blood; specifically phospholipids. The fats and proteins that are attacked are thought to play an important role in maintaining proper blood consistency. By attacking these proteins and fats the blood becomes excessively sticky, resulting in a significantly higher risk of developing blood clots.

There are two main types of antiphospholipid syndrome (Hughes syndrome):
  • Primary antiphospholipid syndrome - the condition is not linked to any other disease or condition. It develops in isolation.
  • Secondary antiphospholipid syndrome - the condition develops along with another autoimmune disorder, such as lupus.
Statistics USA - according to the APS Foundation of America, Inc.:
  • Between 1% and 5% of the American population is believed to have APS antiphospholipid syndrome (APS).
  • Between 15% and 20% of all cases of DVT (deep vein thrombosis) and pulmonary embolisms (lung blood clots) are caused by APS.
  • Between 10% and 25% of women with recurrent miscarriages have APS.
  • Approximately 1 in every 3 cases of stroke among people under 50 years of age is due to APS.
  • Between 75% and 90% of patients with APS are female.
  • Between 40% and 50% of individuals with lupus also have APS.
Statistics UK - according to the National Health Service (NHS), UK:
  • It is estimated that approximately 5% of the UK population have antiphospholipid antibodies, but the majority never have any symptoms. Nobody is sure why.
  • Antiphospholipid syndrome is responsible for 1 in every 5 cases of DVT (deep vein thrombosis)
  • APS is responsible for 1 in every 5 cases of recurrent miscarriages.
  • APS is responsible for 1 in every 5 cases of stroke among patients under 45 years of age.
  • The Hughes Syndrome Foundation (UK) estimates that as many as 1% of the population of England may have antiphospholipid syndrome.
Typically, those who develop symptoms will do so between the ages of 18 and 40 years. However, sometimes they may develop very early on during childhood.

The majority of patients with antiphospholipid syndrome who receive treatment are able to lead normal and healthy lives. Approximately 75% to 80% of women with antiphospholipid syndrome who receive treatment are able to have healthy, full-term pregnancies.

In some rare cases people with antiphospholipid syndrome continue to develop blood clots, despite receiving treatment.

According to Medilexicon's medical dictionary:

Primary antiphospholipid syndrome (PAPS) is "a thrombophilic state characterized by recurrent arterial and venous thrombosis, recurrent pregnancy loss, and the presence of circulating antiphospholipid antibodies (anticardiolipin and anti-B2-glycoprotein I antibodies)."

What are the signs and symptoms of antiphospholipid syndrome?

A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.

Signs and symptoms of antiphospholipid syndrome depend mainly on where the blood clots travel to, and where they form. A clot or embolus (travelling clot) can result in:
  • DVT (deep vein thrombosis) - occurs when a blood clot forms in one of the large veins, usually in the arm or leg, leading to either partially or completely blocked circulation. A DVT blood clot has the potential to move into the lungs, creating a life-threatening condition known as a Pulmonary Embolism.

  • Pulmonary embolism (PE) - a condition where an object called an embolus (travelling clot) is created in one part of the body, circulates throughout the body, and then blocks blood flowing through a vessel in another part of the body. Emboli (plural of embolus) are not to be confused with thrombi (plural of thrombus), which are clots that are formed and remain in one area of the body without being carried throughout the bloodstream. A pulmonary embolism (pulmonary meaning "of the lungs" from the Latin pulmōnārius) occurs when an embolus blocks blood flowing through an artery that feeds the lungs.

  • Complications of pregnancy - including recurring miscarriages, premature delivery, and preeclampsia (high blood pressure during pregnancy)

  • Stroke - a condition where a blood clot or ruptured artery or blood vessel interrupts blood flow to an area of the brain. A lack of oxygen and glucose (sugar) flowing to the brain leads to the death of brain cells and brain damage, often resulting in impairment in speech, movement, and memory. The two main types of stroke include ischemic stroke and hemorrhagic stroke. Ischemic stroke accounts for about 75% of all strokes and occurs when a blood clot, or thrombus, forms that blocks blood flow to part of the brain.
The following signs and symptoms are also possible (less common):
  • Chronic (long-term) headaches
  • Dementia and seizures if a clot blocks blood flow to parts of the brain
  • Livedo reticularis - a rash develops on the knees and wrists. The rash appears as a lace-like purplish discoloration.
  • Migraines
Heart valve abnormalities - about one third of all patients with antiphospholipid syndrome have heart valve problems. In many cases the mitral valve thickens, or develops extra mass, causing regurgitation (blood leaks back into one of the heart's chambers). Some patients may have problems with the aortic valve.

Drop in platelets - platelets are blood cells needed for normal clotting. If levels drop enough (thrombocytopenia) there may be episodes of bleeding. Patients typically experience nosebleeds, or their gums bleed. Some patients may develop petechiae (bleeding into the skin, causing small red spots to appear).

The following signs and symptoms possible, but extremely rare:
  • Chorea - the body and limbs jerk uncontrollably. Sometimes they may appear as non-stop rapid and complex body movements that are well coordinated - but they are unintentional.
  • Memory problems
  • Some mental health problems, such as depression or psychosis (a thought disorder in which reality testing is severely impaired).
  • Unexpected loss of hearing.

When to seek medical help

  • Possible deep vein thrombosis - there is pain, tenderness, swelling, discoloration of a vein. The skin is warm to the touch. Seek emergency care.

  • During the first 20 weeks of pregnancy - if there is any vaginal spotting. This could be a sign of a miscarriage (but not necessarily). Ask your doctor whether antiphospholipid syndrome is possible.

  • Stroke - signs include dizziness, trouble walking, loss of balance and coordination, speech problems, numbness, weakness or paralysis on one side of the body, blurred/blackened or double vision, sudden severe headache.

  • Pulmonary embolism - chest pain, increased or irregular heartbeat, dizziness, sudden shortness of breath, rapid breathing, cough, or coughing up blood.

What are the risk factors for antiphospholipid syndrome?

A risk factor is something which increases the likelihood of developing a condition or disease. For example, obesity significantly raises the risk of developing diabetes type 2. Therefore, obesity is a risk factor for diabetes type 2. The risk factors for antiphospholipid syndrome include:
  • Having lupus, Sjogren's syndrome, or some other autoimmune disorder.

  • Hepatitis C, syphilis, cytomegalovirus (CMV), the parvovirus B19 and some other infections.

  • Some medications, including hydralazine (used to treat hypertension) and some anti-epileptic drugs.

  • Genetics - people who have a family member with antiphospholipid syndrome have a higher risk of developing it themselves, compared to people who don't.

  • Gender - young and middle-aged women are more likely to develop antiphospholipid syndrome than males. However, both sexes can be affected, as well as people of any age.
Some people may have the antibodies that are linked to antiphospholipid syndrome, but never develop signs or symptoms. People with these antibodies are more likely to develop symptoms if they:
  • Are obese
  • Become pregnant
  • Have high cholesterol levels
  • Have hypertension (high blood pressure)
  • Receive HRT (hormone replacement therapy)
  • Smoke tobacco
  • Stay still for too long, as may be the case during a long-haul flight
  • Take oral contraceptives
  • Undergo a surgical procedure

What are the causes of antiphospholipid syndrome?

What are phospholipids?

When we bleed our blood eventually clots (coagulates) to stop us from losing too much blood. Phospholipids are one of the substances involved in the blood-clotting process - a complex process involving several steps. Phospholipids are cell membrane substances.

People with antiphospholipid syndrome produce antibodies which attack either the phospholipids or blood proteins which bind to the phospholipids.

What is an autoimmune disorder?

Antibodies are produced by our immune system to fight off and destroy germs and toxins which our bodies do not want - they identify potential threats to the body and destroy them. If somebody has an autoimmune disorder, they have antibodies which mistakenly attack good cells - in the case of antiphospholipid syndrome abnormal antiphospholipid antibodies are produced, which mistakenly attack phospholipids.

What happens if phospholipids are attacked?

If phospholipids are attacked there may be a significantly greater risk in developing blood clots. Experts are not sure why, but they say that we must keep the consistency of our blood just right - it must be neither too sticky nor too runny. This delicate balance depends on several proteins and fats working simultaneously. If the balance is disturbed and the blood becomes stickier, which may happen if phospholipids and some other proteins are attacked, the risk of blood clots developing grows.

We don't know why the immune system produces the abnormal antibodies. Neither do we understand why some people with abnormal antibodies never develop any antiphospholipid syndrome symptoms. Experts believe a combination of genetic and environmental factors are involved.

Diagnosing antiphospholipid syndrome

A doctor will test for antiphospholipid syndrome if the patient has at least one episode of thrombosis, or a pregnancy loss.

Blood test - this will determine whether the abnormal antibodies are present. Two tests are involved, several weeks apart. Sometimes harmless antiphospholipid antibodies may develop for limited periods, because of an infection or some medication. That is why a second test is required at a later date.

If the blood tests confirm the presence of abnormal antibodies, the doctor will make a careful assessment of the patient's medical history to determine whether previous symptoms may have been caused by antiphospholipid syndrome.

A diagnosis of antiphospholipid syndrome will be confirmed if (National Health Service, UK):

The patient had at least one confirmed blood clot
Or
At least one unexplained late-term miscarriage (tenth week of pregnancy onwards)
Or
At least one premature birth by the 34th week of pregnancy
Or
At least three unexplained early miscarriages that occurred before the tenth week of pregnancy

What are the treatment options for antiphospholipid syndrome?

As the main problem is sticky blood, doctors will usually prescribe medication that thins the blood - reduces the blood's propensity to clotting, such as low-dose aspirin.

Aspirin plus Warfarin, and possibly Heparin - aspirin together with Warfarin are generally prescribed as a first option. If this combination does not work, the patient may either be prescribed a higher Warfarin dose, or an additional drug - heparin - will be given.

Aspirin and Warfarin are taken by mouth (orally) in tablet form, while heparin is usually injected. Patients can be taught how to administer the heparin themselves. Patients will have to take anticoagulant medication for the rest of their lives.

Anticoagulants may sometimes undermine the blood's ability to coagulate, resulting in hemorrhage (excessive bleeding). Signs and symptoms of excessive bleeding include:
  • Blood in stools (feces)
  • Blood in urine
  • Blood in vomit
  • Coughing up blood
  • Nosebleeds that last longer than ten minutes
  • Severe bruising
Patients taking anticoagulants who experience any of these symptoms should tell their doctor immediately.

Thrombosis treatment - Heparin combined with Warfarin are usually prescribed for the treatment of thrombosis. When that is cleared the patient with antiphospholipid syndrome will continue with Warfarin for the rest of his/her life. Sometimes the doctor may recommend Warfarin along with low-dose aspirin.

Pregnancy - women who have already been diagnosed with antiphospholipid syndrome will be advised by their doctors to plan for pregnancy. For treatment to be really effective it must start soon after any attempt to conceive. If the pregnancy is unplanned treatment may not begin until several weeks after conception.

Pregnant patients with antiphospholipid syndrome are usually given aspirin, heparin or both. This will depend on whether they had previous pregnancy complications, and/or blood clots. Warfarin, which can cause birth defects, is not used during pregnancy.

If the pregnant mother and baby reach the third trimester in good health, the heparin treatment may stop. The mother may have to continue taking aspirin right up the end of her pregnancy.

The pregnant mother will be monitored closely with blood tests to make sure her blood can still coagulate (clot) enough to stop bleeding if she bruises or cuts herself.

What are the complications of antiphospholipid syndrome?

Catastrophic antiphospholipid syndrome - estimated to affect less than 1% of patients with antiphospholipid syndrome. Blood clots abruptly develop all over the body, resulting in multiple organ failure. 20% of cases occur after trauma, surgery or an infection. However, experts are not sure why catastrophic antiphospholipid syndrome occurs. Symptoms vary, depending on which organs are affected, and may include:
  • Abdominal pain
  • Coma
  • Confusion
  • Edema (swelling) in the extremities (ankles, feet or hands)
  • Fits (seizures)
  • Progressive breathlessness
  • Tiredness
Symptoms typically appear suddenly and get worse rapidly. Catastrophic antiphospholipid syndrome is a medical emergency and the patient needs to get into an ICU (intensive care unit) as soon as possible so that the body's functions can be maintained while high-dose anticoagulants are administered. Unfortunately, even with the best medical care in the word, 50% of patients with catastrophic antiphospholipid syndrome do not survive.

Prevention

A patient with antiphospholipid syndrome needs to take all possible measures to lower the risk of developing blood clots. To do this, it is important:
  • Not to smoke
  • To eat plenty of fruit and vegetables
  • To follow a diet which is well-balanced and low in fat and sugar
  • To maintain a healthy bodyweight. Obese and overweight patients should seriously consider losing weight.
  • To remain physically active
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