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Nephropathic Cystinosis: Causes, Symptoms & Treatments

Nephropathic cystinosis is a rare disease that usually appears in infants and children at a young age.

It is a life-long condition, but available treatments, such as cysteamine therapy and kidney transplantation, have allowed people with the disease to live longer.

Cystinosis is a disease caused by an abnormal buildup of a certain amino acid called cystine. It is a rare, but serious disease with a lifelong impact, and can affect many parts of the body.

Cystinosis is an inherited disease, meaning that it is passed down through families. A faulty gene for the protein cystinosin leads to problems with the way cystine is stored in the body. Cystinosis is a recessive genetic disorder and patients must receive an abnormal copy of the cystinosin gene from each parent in order to develop the disease. In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.

There are three types of cystinosis, depending on when symptoms first appear (known as onset): Infantile (early-onset) cystinosis; later childhood or adolescent (late-onset) cystinosis; or adult cystinosis. About 95% of patients with cystinosis have the infantile/early-onset form, making it the most common variant of this disease, and most patients develop kidney problems.

Signs and Symptoms of Cytsinosis

Generally, early-onset cystinosis is the most serious form. Symptoms, complications, and timing of cystinosis can vary, depending on the type of disease.

Infantile (early-onset) Cystinosis

Infants with cystinosis might have no noticeable symptoms at first. However, by 6 – 12 months of age, problems start to appear, including below-average growth, feeding intolerance (picky eating and/or fussiness), frequent urination, and periods of dehydration (constant thirst). One of the first organs affected by cystinosis is the thyroid gland and patients may need to be given thyroid hormone. Walking can also be delayed.

Infantile (early-onset) cystinosis is also called “nephropathic cystinosis,” which is a term used because people with cystinosis can have serious problems with their kidneys. Infants with nephropathic cystinosis can develop a condition called “Fanconi syndrome,” meaning their kidneys cannot absorb nutrients and minerals, such as sodium and potassium. As a result, these essential nutrients are lost in the urine. When infants become children, they are at high risk of developing worsening kidney disease, and eventually kidney failure, meaning the kidneys can no longer work. At that stage, dialysis or a kidney transplant is needed to survive. Without appropriate treatment, children with cystinosis can develop kidney failure by around 10 – 12 years of age.

Cystinosis can also cause other problems, including difficulty swallowing, muscle wasting, and weaker bones. People with cystinosis are also at higher risk for diabetes (high blood sugar).

Cystinosis can also impact the brain and nervous system. As a result, children and teenagers can also have problems with attention, memory, movement, and coordination.

Late-Childhood or Adolescent (late-onset) Cystinosis

Signs and symptoms appear at a later age. If left untreated, kidney failure can develop by the late teenage years or early adulthood. People with late-onset cystinosis can accumulate cysteine in their eyes and have problems with their vision and photophobia, meaning they are sensitive to light.

Adult cystinosis

People with the adult – onset form of this disease mainly have problems with their eyes and/or light sensitivity (photophobia), which is why it can also be called ocular cystinosis. People with adult-onset cystinosis usually do not have problems with the kidneys.

Cystinosis Diagnosis

Cystinosis is diagnosed using different methods, including a physical exam to look for signs of the disease. The eyes will be examined to see if cystine crystals are present (signs of eye problems appear after two years of age). Personal and family medical histories will also be checked. A genetic test can also be used to help confirm a diagnosis.

Measuring the amount of cystine in white blood cells is one of the major tests for cystinosis. There are two tests that can be used to measure how well the kidneys are working. Blood and urine tests and radiology tests are also used to check how other organs are working.

Treatment of Cystinosis

Infants and young children with cystinosis might need to receive fluid and electrolytes, such as sodium and potassium. Vitamin D and phosphate salts might also be given for problems with weaker bones. Diabetes is usually managed with a low-sugar diet, insulin, or other medicines that help control sugar in the blood.

Infants and younger children with cystinosis might eventually need a kidney transplant if their kidneys are no longer working. People with a kidney transplant will need to take certain medicines, and do other important things to maintain their health.

There are also certain medications that can help lower the amount of cystine in the body, called “cystine-depleting” medicines. They can improve symptoms and help delay problems with the kidneys and other parts of the body. All people with cystinosis will need to take this medicine throughout their lives. There are new formulations of the medicine that can be given twice a day and that have less of a bad taste. Measuring the amount of cystine in white blood cells is used to find out how well these medicines are working.

With kidney transplantation, cystine therapy, and other medications, people with cystinosis today live longer into adulthood, provided they are treated early and appropriately. However, this disease has a lifelong impact, so it is important for people with cystinosis to keep up with their medical appointments and treatments. They also need to keep taking medications and stay with the treatment plan, as recommended by their healthcare provider.

Gout: Causes & Symptoms & Treatments

What is gout?

Gout is a type of arthritis that causes sudden joint inflammation, usually in a single joint. Severe gout can sometimes affect many joints at once. This is known as polyarticular gout.

Uric acid crystals in the joints cause gouty arthritis.

What causes gout?

Gout is caused by too much uric acid in the bloodstream and accumulation of uric acid crystals in tissues of the body. Uric acid crystal deposits in the joint cause inflammation of the joint leading to pain, redness, heat, and swelling. Uric acid is normally found in the body as a byproduct of the way the body breaks down certain proteins called purines. Causes of an elevated blood uric acid level (hyperuricemia) include genetics, obesity, certain medications such as diuretics (water pills), and chronic decreased kidney function.

What are risk factors for gout?

There are many risk factors for gout. Gout is more common after surgery, trauma, and dehydration. Certain medications such as diuretics (commonly known as water pills), which treat high blood pressure, that raise the level of uric acid in the bloodstream are risks for gout. Surprisingly, medications that lower the level of uric acid in the bloodstream, such as allopurinol (Zyloprim, Aloprim), can also initially cause a flare of gout. This is because anything that raises or lowers the uric acid level can cause a gout flare by causing uric acid crystals to deposit in a joint. Low-dose aspirin can precipitate gout attacks. The treatment of certain types of cancer can cause gout because of high levels of uric acid released when the cancer cells are destroyed. Degenerative arthritis also makes affected joints more likely to be the site of a gouty attack.

What are gout symptoms and signs?

The characteristic symptoms and signs of gout are

  • sudden onset of joint pain,
  • joint swelling,
  • heat in the affected area, and
  • joint redness.

These symptoms and signs usually affect a single joint. The pain is typically severe, reflecting the severity of inflammation in the joint. The affected joint is often very sensitive to touch to the point that some people with gout attacks experience pain from something as simple as pulling the bedsheets over the inflamed joint. The affected joint becomes swollen. The medical term for excessive fluid in a joint is a “joint effusion.”

Gout frequently involves joints in the lower extremities. The classic location for gout to occur is the big toe. Podagra is the medical term for inflammation at the base of the big toe. Gout can also affect the foot, knee, ankle, elbow, wrist, hands, or nearly any joint in the body. When gout is more severe or longstanding, multiple joints may be affected at the same time. This causes pain and joint stiffness in multiple joints.

Another sign of gout is the presence of tophi. A tophus is a hard nodule of uric acid that deposits under the skin. Tophi can be found in various locations in the body, commonly on the elbows, upper ear cartilage, and on the surface of other joints. When a tophus is present, it indicates that the body is substantially overloaded with uric acid. When tophi are present, the uric acid level in the bloodstream typically has been high for years. The presence of tophi indicates tophaceous gout and treatment with medications is necessary.

Longstanding untreated gout can lead to joint damage and physical deformity.

Kidney stones may be a sign of gout as uric acid crystals can deposit in the kidney and cause kidney stones.

Treatments:

The good news about gout is that it can be controlled. Medicines help in two ways: They reduce pain during an attack, and can reduce the uric acid buildup that causes the condition.

When uric acid builds up in your body, it can form crystals that irritate your joints.

Gout is a type of inflammatory arthritis. An attack may come after an illness or injury. The first sign is often pain in the big toe. It usually affects one joint at a time, but gout can spread to other joints and leave them looking red and swollen.

Prescription Medicines

Your doctor may recommend one of these medicines that you can’t get over the counter:

  • Indomethacin is a stronger NSAID pain reliever.
  • Colchicine reduces inflammation.
  • Steroids (also called corticosteroids) fight inflammation.
  • Probenecid helps the kidneys excrete uric acid from your body.
  • Pegloticase breaks down uric acid.
  • Allopurinol reduces uric acid production.
  • Febuxostat reduces uric acid production.
  • Lesinurad helps your body get rid of uric acid when you pee.

Preventive Measures

Along with medicine, your doctor may suggest other ways to prevent another attack:

  • Exercise and eat a balanced diet to control your weight.
  • Drink lots of water.
  • Stay away from sugary drinks.
  • Avoid excessive alcohol use, especially beer.
  • Eat less meat and seafood. Get your protein from foods like low-fatdairy. products like yogurt, cheese and milk.

These medicine and lifestyle change can help you get through an attack and prevent other attacks.

Lupus: Causes, Symptoms & Treatments

Lupus

What it is: Lupus (also called SLE or systemic lupuserythematosus) is an autoimmune disease. It can affect many organs in your body.

 

Lupus, also known as systemic lupus erythematosus, is a chronic autoimmune disease which can affect many body parts, including the joints, skin, kidneys, heart, lungs, blood vessels, or brain. When lupus occurs, the immune system of the body malfunctions, meaning, though it is responsible for fighting off viruses, bacteria, and germs and protecting the body, it suddenly starts to attack your body’s healthy tissues. In this disease, the immune system becomes overactive as opposed to the condition of HIV when it becomes underactive. This condition can range from mild to life-threatening.

How does lupus occur?

The immune system in our bodies is responsible for producing antibodies that fight against antigens (intruders that sneak into our bodies to cause harm) and protect the body against any infections. Lupus occurs when the immune system of the body malfunctions and is unable to differentiate between antigens and healthy tissue. In this condition, the immune system in fact directs antibodies against the healthy tissue in our bodies, along with the antigens, causing swelling, pain, and tissue damage.

There are various types of lupus such as:

  • Lupus nephritis: is inflammation of the kidney that is caused by systemic lupus erythematosus (SLE).
  • Neonatal lupus: which affects newborn babies.
  • Subacute cutaneous lupus erythematosus: which causes skin sores on areas of the body exposed to the sun.
  • Discoid lupus erythematosus: which causes a skin rash that doesn’t easily disappear.
  • Drug-induced lupus: which can be caused by certain medicines.

Who is prone to lupus?

The chances of developing lupus are higher in people who:

  • are women
  • are of black ancestry
  • are between the ages of 15 and 45
  • have a family history of lupus
  • take medicines that are associated with drug-induced systemic lupus

What are the causes of lupus?

The cause of lupus in most cases, is as yet unknown. A few potential triggers include:

  • Genetics: A family history of lupus may make you more susceptible to this disease.
  • Infections: Contracting an infection can initiate lupus or cause a relapse.
  • Sunlight:  Exposure to sunlight can trigger a response in susceptible people. Skin lesions may appear.
  • Hormones: Both men and women produce estrogen, however, its production is much greater in females. Many women experience symptoms of lupus before menstrual periods and/or during pregnancy when estrogen production is high. This may indicate that estrogen somehow regulates the severity of lupus, however, researchers have not yet found any connection between estrogen, or any other hormone, and lupus.
  • Medications:  Certain medicines such as anti-seizure medications and antibiotics, can cause lupus can be triggered by certain types of blood pressure medications. These patients usually get better after they stop taking the medicines.

What are the complications of lupus?

Some major complications of lupus include:

  • anemia
  • risk of bleeding or blood clotting
  • inflammation of blood vessels
  • kidney damage or kidney failure
  • inflammation of chest cavity lining (pleurisy)
  • headaches
  • dizziness
  • behaviour changes
  • hallucinations
  • strokes or seizures.
  • inflammation of the heart muscle
  • increased risk of cardiovascular diseases and heart attacks

What are the symptoms of lupus? How is lupus diagnosed?

The most common symptoms of lupus include:

  • fatigue and fever
  • joint pain, stiffness and swelling
  • butterfly-shaped rash on the face that covers the cheeks and bridge of the nose
  • skin lesions that occur due to exposure to the sun
  • fingers and toes that turn white or blue when exposed to cold or during stressful periods
  • shortness of breath
  • chest pain
  • dry eyes
  • headaches
  • confusion
  • memory loss

Diagnosis

Lupus can produce different and often confusing symptoms in the body, so it may take some time for a physician to diagnose it. In fact, this disease is known as ‘the great imitator’ as its symptoms mimic many other illnesses.Usually, a general physician can diagnose lupus. Depending on the severity of your condition he may refer you to other specialists such as a dermatologist, cardiologist, nephrologist, neurologist, gastroenterologist, pulmonologist, or a perinatologist.

For diagnosing lupus your doctor will look for your current symptoms such as pain, heat, redness, swelling, and loss of function at a particular place in the body. He will also enquire about your complete medical history, and if you have a family history of lupus.

There is no single diagnostic test for systemic lupus, however, the test usually suggested by doctors for lupus is called the antinuclear antibody (ANA) test. This is not a test specifically for lupus, but this test along with many other laboratory tests can build up a picture providing more information to your doctor and finally confirm if it is lupus.Other tests include:

  • blood test (for complete blood count)
  • kidney and liver assessment
  • urinalysis
  • chest X-Ray
  • echocardiogram
  • skin biopsy

What is the treatment of lupus?

Medical Treatment for Lupus

Depending on the severity of your condition, your doctor may prescribe medicines to suppress the immune system, reduce inflammation, and treat pain, swelling and fever associated with lupus.

Exercise

Research shows that lupus patients who exercise build stronger muscles, prevent joint stiffness, control fatigue, and avoid weight gain.Before deciding on an exercise regimen, make sure to consult your doctor to find out what type of exercises suit you the best since some movements can be harmful if you have swollen joints or muscle pain.

Some exercises that you can consider are yoga, pilates, Tai Chi, dancing, swimming, and bicycling.

Hermorrhoids: Causes, Symptoms & Treatments

Hemorrhoids are enlarged, bulging blood vessels in and about the anus and lower rectum. Straining, exertion, pregnancy, and other activities can lead to bleeding, pain, itching and swelling of hemorrhoids.  Sometimes hemorrhoids make it difficult to get clean after a bowel movement and can lead to rashes and irritation around the anal area.  More severe hemorrhoids cause obstruction and stricture of the anal area making the process of having a bowel movement even harder and more discomforting.  Once hemorrhoids have become enlarged producing symptoms the patient often will need an intervention to “shrink” or remove the hemorrhoids before they can obtain relief.

Hemorrhoid treatment options

There are three major methods of treating hemorrhoids in the office; Infrared coagulation (Laser), Rubber band ligation, and Sclerotherapy.  All methods are essentially “painless” when performed by an appropriate physician.  Office treatments require no down time, can be performed during a normal office visit, require no special preparation, no anesthesia, and no medication.  These procedures can be done and you can go right back to work.  A surgeon trained in rectal surgery can determine which treatment method will produce the best results for your condition.

  1. Infrared coagulation (Laser)- Using a small probe, a burst of infrared energy is applied to the hemorrhoid’s surface in an area where there is typically no sensation.  This removes a couple millimeters of tissue and requires repeat applications to produce results.  This can be effective for hemorrhoids that do not prolapse (bulge with bowel movements out of the anal canal).
  2. Rubber band ligation - One of the most permanent in office procedures for the removal of symptomatic hemorrhoids. A small band is placed around the base of the hemorrhoid, above the area where there is sensation.  The band effectively will remove a large portion of the hemorrhoid, essentially leaving a smaller hemorrhoidal cushion.  This typically can begin to produce relief after the first application.  One band is placed per visit to decrease the chances of having any discomfort and bleeding.  Having multiple bandings performed can be as effective as a full, inpatient surgery for removal of a patient’s hemorrhoids.  This treatment when done right will not produce pain and will produce immediate results.
  3. Sclerotherapy- An effective treatment for reducing bleeding internal hemorrhoids.  While in the office a small injection is made into the hemorrhoidal vessels which are above the area of normal sensation.  Over a period of time the hemorrhoid “hardens” and shrinks due to minor interruption of the blood supply.  Can be very effective for patients on blood thinning medication who bleed with bowel movements.
  4. Hemorrhoidectomy – For the most severe of cases, your surgeon may recommend a hemorrhoidectomy which is a surgery performed in the hospital under general sedation.  Typically this has been regarded as a painful surgery, but recently has been improved through the use of a tool called the harmonic scalpel.  A harmonic scalpel hemorrhoidectomy uses ultrasound generated energy to gently remove the hemorrhoid, minimizing damage to underlying, sensitive tissue.  This both decreases bleeding after the surgery as well as any “collateral” damage through traditional surgery with electrocautery and sutures.  For most cases a surgery performed in this manner can be done on an “outpatient” basis without the need for an overnight hospital stay.

Body Odor: causes and prevention

What is body odor?

Apocrine glands are located in several areas, including the armpits.

When a body gives off a scent others may find unpleasant, it is known as body odor.

Body odor usually becomes evident if measures are not taken when a human reaches puberty. People who are obese, those who regularly eat spicy foods, as well as individuals with certain medical conditions, such as diabetes, are more susceptible to having body odor.

People who sweat too much, such as those with hyperhidrosis, may also be susceptible to body odor. However, often the salt level of their sweat is too high for the bacteria to break down. It depends on where the excess sweating is occurring and which type of sweat glands are involved.

Sweat itself is virtually odorless to humans. It is the rapid multiplication of bacteria in the presence of sweat and their breaking down of sweat into acids that eventually causes the unpleasant smell.

Body odor is most likely to occur in the following places:

  • feet
  • groin
  • armpits
  • genitals
  • pubic hair and other hair
  • belly button
  • anus
  • behind the ears
  • the rest of the skin, to a lesser extent

Body odor can have a pleasant and specific smell to the individual and can be used to identify people, especially by dogs and other animals. Each person’s unique body odor can be influenced by diet, gender, health, and medication.

Causes

Body odor is caused by bacteria breaking down sweat and is largely linked to the apocrine glands. Most body odor comes from these.

These glands are found in the breasts, genital area, eyelids, armpits, and ear. In the breasts, they secrete fat droplets into breast milk. In the ear, they help form earwax. Apocrine glands in the skin and the eyelids are sweat glands.

Most of the apocrine glands in the skin are located in the groin, armpits, and around the nipples. In the skin, they usually have an odor. They are scent glands.

The apocrine glands are mainly responsible for body odor because the sweat they produce is high in protein, which bacteria can break down easily.

What causes foot odor?

Most of us wear shoes and socks, making it much more difficult for the sweat to evaporate, giving the bacteria more sweat to break down into smelly substances. Moist feet also raise the risk of fungi developing, which can also give off unpleasant smells.

Prevention

A large concentration of apocrine glands is present in the armpits, making that area susceptible to the rapid development of body odor.

The following steps may help control armpit odor:

1) Keep the armpits clean: Wash them regularly using anti-bacterial soap, and the number of bacteria will be kept low, resulting in less body odor.

2) Hair: When armpits have hair, it slows down the evaporation of sweat, giving the bacteria more time to break it down into smelly substances. Shaving the armpits regularly has been found to help body odor control in that area. Reusable razors are available to purchase online.

3) Deodorant or antiperspirant: Deodorants make the skin more acidic, making it more difficult for bacteria to thrive. An antiperspirant blocks the sweating action of the glands, resulting in less sweating. Some studies, however, have indicated that antiperspirants may be linked to breast cancer or prostate cancer risk.

This study suggests that current research is inconclusive on the risks of antiperspirant sprays.

Deodorants and antiperspirants with natural ingredients are available to purchase online.

Tips on preventing foot odor

Smelly feet are less of a problem socially than underarm B.O. because the unpleasant odor is usually contained by shoes and socks.

However, the smell may become obvious if the person with smelly feet visits a home where shoes are taken off before entering, as is the custom in various countries and homes.

The following steps may help control foot odor:

1) Wash your feet at least once a day: Warm water is better at killing bacteria than cold water. Make sure you dry your feet thoroughly afterward, including in between your toes.

2) Socks: They must allow the sweat to evaporate. The best socks are those made of a combination of man-made fibers and wool. Wear a clean pair of socks each day.

3) Shoes: If you wear trainers or shoes with plastic linings make sure it is not for long. A leather lining is better for sweat evaporation. If you have a problem with sweaty feet, do not wear the same pair of shoes two days in a row. Shoes do not completely dry overnight.

4) Pumice stone: Bacteria thrive on dead skin. If the soles of your feet have patches of dead skin remove them with a pumice stone. These are available to buy online.

5) Deodorants and antiperspirants: Ask your pharmacist for special foot deodorants and antiperspirants. If you have athlete’s foot, you should not use deodorants or antiperspirants. Treat the fungal infection with appropriate medication.

6) Walk around barefoot: Whenever you can, walk around barefoot, or at least slip out of your shoes regularly.

Cardiac Catheterization(angioplasty): Details & Types

First, you’ll have what’s called a cardiac catheterization. Medication will be given to relax you, then the doctor will numb where the catheter will go with anesthesia.

Next, a thin plastic tube called a sheath is inserted into an artery — sometimes in your groin, sometimes in your arm. A long, narrow, hollow tube called a catheter is passed through the sheath and guided up a bloodvessel to the arteries surrounding the heart.

A small amount of contrast liquid is put into your blood vessel through the catheter. It’s photographed with an X-ray as it moves through your heart’s chambers, valves, and major vessels. From those pictures, doctors can tell if your coronary arteries are narrowed and, in some cases, whether the heart valves are working correctly.

If the doctor decides to perform angioplasty, he will move the catheter into the artery that’s blocked. He’ll then do one of the procedures described below.

The whole thing lasts from 1 to 3 hours, but the preparation and recovery can add much more time. You may stay in the hospital overnight for observation.

What Types of Procedures Are Used in Angioplasty?

There are several your doctor will choose from. They include:

Balloon: A catheter with a small balloon tip is guided to the narrowing in your artery. Once in place, the balloon is inflated to push the plaque and stretch the artery open to boost blood flow to the heart.

Stent: This is a small tube that acts as a scaffold to support the inside your coronary artery. A balloon catheter, placed over a guide wire, puts the stent into your narrowed coronary artery. Once in place, the balloon is inflated, and the stent expands to the size of the artery and holds it open. The balloon is then deflated and removed while the stent stays in place. Over several weeks, your artery heals around the stent.

These are often placed during angioplasty to help keep the coronary artery open. The stent is usually made of metal and is permanent. It can also be made of a material that the body absorbs over time.

Some stents contain medicine and are designed to reduce the risk of the artery getting blocked again (your doctor may call that restenosis). The doctor will decide if this is the right stent for your blockage.

Rotablation: A special catheter, with an acorn-shaped, diamond-coated tip, is guided to the point of the narrowing in your coronary artery. The tip spins at a high speed and grinds away the plaque on your artery walls. The microscopic particles are washed away in your bloodstream. This process is repeated as needed to improve blood flow.

This is rarely used because balloon angioplasty and stenting have much better results. They’re also easier for the cardiologist to perform.

Atherectomy: The catheter used here has a hollow cylinder on the tip with an open window on one side and a balloon on the other. When the catheter is put into the narrowed artery, the balloon is inflated, pushing the window against the plaque. A blade in the cylinder rotates and shaves off any plaque that protrudes into the window. The shavings are caught in the catheter chamber and removed. This process is repeated as needed to allow for better blood flow.

Like rotablation, this procedure isn’t used much.

Cutting balloon: This catheter has a special balloon tip with small blades. When the balloon is inflated, the blades are activated. The small blades score the plaque, then the balloon presses the plaque against the artery wall.

Myalgic encephalomyelitis: Causes, Symptoms & Treatments

Chronic fatigue syndrome (CFS) is a complicated disorder characterized by extreme fatigue that can’t be explained by any underlying medical condition. The fatigue may worsen with physical or mental activity, but doesn’t improve with rest.

This condition is also known as systemic exertion intolerance disease (SEID) or myalgic encephalomyelitis (ME). Sometimes it’s abbreviated as ME/CFS.

The cause of chronic fatigue syndrome is unknown, although there are many theories — ranging from viral infections to psychological stress. Some experts believe chronic fatigue syndrome might be triggered by a combination of factors.

There’s no single test to confirm a diagnosis of chronic fatigue syndrome. You may need a variety of medical tests to rule out other health problems that have similar symptoms. Treatment for chronic fatigue syndrome focuses on symptom relief.

Symptoms

Signs and symptoms may include:

  • Fatigue
  • Loss of memory or concentration
  • Sore throat
  • Enlarged lymph nodes in your neck or armpits
  • Unexplained muscle or joint pain
  • Headaches
  • Unrefreshing sleep
  • Extreme exhaustion lasting more than 24 hours after physical or mental exercise

When to see a doctor

Fatigue can be a symptom of many illnesses, such as infections or psychological disorders. In general, see your doctor if you have persistent or excessive fatigue.

Causes:

People who have chronic fatigue syndrome appear to be hypersensitive to even normal amounts of exercise and activity.

Why this occurs in some people and not others is still unknown. Some people may be born with a predisposition for the disorder, which is then triggered by a combination of factors. Potential triggers include:

  • Viral infections. Because some people develop chronic fatigue syndrome after having a viral infection, researchers question whether some viruses might trigger the disorder. Suspicious viruses include Epstein-Barr virus, human herpes virus 6 and mouse leukemia viruses. No conclusive link has yet been found.
  • Immune system problems. The immune systems of people who have chronic fatigue syndrome appear to be impaired slightly, but it’s unclear if this impairment is enough to actually cause the disorder
  • Hormonal imbalances. People who have chronic fatigue syndrome also sometimes experience abnormal blood levels of hormones produced in the hypothalamus, pituitary glands or adrenal glands. But the significance of these abnormalities is still unknown.

Diagnosis:

There’s no single test to confirm a diagnosis of chronic fatigue syndrome. Because the symptoms of chronic fatigue syndrome can mimic so many other health problems, you may need patience while waiting for a diagnosis.

Your doctor must rule out a number of other illnesses before diagnosing chronic fatigue syndrome. These may include:

  • Sleep disorders. Chronic fatigue can be caused by sleep disorders. A sleep study can determine if your rest is being disturbed by disorders such as obstructive sleep apnea, restless legs syndrome or insomnia.
  • Medical problems. Fatigue is a common symptom in several medical conditions, such as anemia, diabetes and underactive thyroid (hypothyroidism). Lab tests can check your blood for evidence of some of the top suspects.
  • Heart and lung impairments. Problems with your heart or lungs can make you feel more fatigued. An exercise stress test can assess your heart and lung function.
  • Mental health issues. Fatigue is also a symptom of a variety of mental health problems, such as depression, anxiety, bipolar disorder and schizophrenia. A counselor can help determine if one of these problems is causing your fatigue.

Treatment:

There is no cure for chronic fatigue syndrome. Treatment focuses on symptom relief.

Medications

Many people who have chronic fatigue syndrome are also depressed. Treating your depression can make it easier for you to cope with the problems associated with chronic fatigue syndrome. Low doses of some antidepressants also can help improve sleep and relieve pain.

Therapy

The most effective treatment for chronic fatigue syndrome appears to be a two-pronged approach that combines cognitive training with a gentle exercise program.

  • Cognitive training. Talking with a counselor can help you figure out options to work around some of the limitations that chronic fatigue syndrome imposes on you. Feeling more in control of your life can improve your outlook dramatically.
  • Graded exercise. A physical therapist can help determine what exercises are best for you. Inactive people often begin with range-of-motion and stretching exercises for just a few minutes a day. Gradually increasing the intensity of your exercise over time may help reduce your hypersensitivity to exercise, just like allergy shots gradually reduce a person’s hypersensitivity to a particular allergen.

Risk factors

Factors that may increase your risk of chronic fatigue syndrome include:

  • Age. Chronic fatigue syndrome can occur at any age, but it most commonly affects people in their 40s and 50s.
  • Sex. Women are diagnosed with chronic fatigue syndrome much more often than men, but it may be that women are simply more likely to report their symptoms to a doctor.
  • Stress. Difficulty managing stress may contribute to the development of chronic fatigue syndrome.

Complications:

Possible complications of chronic fatigue syndrome include:

  • Depression
  • Social isolation
  • Lifestyle restrictions
  • Increased work absences

Amenorrhea: Causes, Symptoms & Treatments

Defining Amenorrhea

Amenorrhea is the medical term for not having a period for three months in a row (secondary amenorrhea) or not having a first period by age fifteen (primary amenorrhea). The most common cause of amenorrhea is pregnancy. If this is happening to you, don’t freak out yet! There are many other things that can cause missed periods, including birth defects, hormone changes, medications and weight loss.

Causes

As we discussed above, there are things besides pregnancy that can cause amenorrhea. Birth defects, such as blockage of the cervix (the opening of the uterus/womb), a missing uterus or a vaginal septum (a rare anomaly where the vagina is divided in two), are sometimes the reason for primary amenorrhea.

There are also genetic conditions, such as XY gonadal dysgenesis, that cause a woman’s ovaries to develop abnormally. This is because women with this condition have one X and one Y chromosome (instead of the usual XX).

Sometimes women are born with all the right equipment, but something happens, and it stops working. Acquired conditions that cause amenorrhea include uterine infection, surgery and tumors.

Hormones are also commonly to blame. This is because hormones control a woman’s cycle, much like a conductor directs the flow of an orchestra. When your hormones get out of whack, so does your period. Things that can cause hormone fluctuations include extreme weight loss (such as with eating disorders like anorexia), breastfeeding, menopause, stress, over-exercising and problems with your thyroid or pituitary glands (hormone-making glands).

Chronic health conditions, such as thyroid disease, cystic fibrosis, polycystic ovarian syndrome and cancer, can also be a cause of amenorrhea. Other times, the medications used to treat these or other health conditions are to blame. Medications that can disturb your usual cycle include birth control, corticosteroids, chemotherapy, antipsychotics, antidepressants and blood pressure and/or allergy medicines.

Symptoms

The primary symptom of amenorrhea is absence of menstruation. Depending on the cause, there may be other symptoms present. These can include:

  • Headaches
  • Vision changes
  • Acne
  • Hair growth in unwanted areas (such as facial hair)
  • Nausea
  • Enlarged thyroid (goiter)
  • Skin changes
  • Breast changes (such as swelling or nipple discharge)
  • Hair loss
  • Pelvic pain

Treatment Options

Treatment for amenorrhea depends on the cause. For example, if your problem is caused by a medication (like corticosteroids), discontinuing the medicine should help your cycle return to normal. In cases of pregnancy, menstruation returns after delivery. In cases where structural blockage or tumors are to blame, surgery may correct the problem. Persons with thyroid or pituitary problems can be treated with medication. Sometimes birth control pills can help to regulate your hormones and restart your period.

Peripheral Artery Diseases: Causes, Symptoms & Treatments

High blood cholesterol is best known for its effects on your heart in the form of heart disease, heart attack and stroke. It can, however, cause leg pain as well when the arteries in your legs suffer from restricted blood flow; this condition is known as peripheral artery disease. Although your doctor may prescribe cholesterol-lowering medications, these may also contribute to the pain and discomfort you feel.

Peripheral Artery Disease

Peripheral artery disease–PAD–can result from atherosclerosis, or hardening of the arteries. Plaque, a substance made of fat, cholesterol and various elements in your blood, is the cause of this condition. As plaque builds in the walls of your arteries, they begin to narrow, restricting blood flow to various areas of your body. The most common complications are heart attack and stroke; PAD is another. Affecting your arms, legs and pelvis, PAD can lead to numbness, pain and infection in these areas, according to the National Heart Lung and Blood Institute.

Symptoms of PAD

The  PAD may build up over the course of your life without symptoms presenting themselves until you have a blockage of 60 percent or more in your arteries. You may then notice discomfort or cramping in your legs when active that subsides during rest. This pain generally occurs in your calf, but may be felt in your thigh or buttocks as well. When walking, you may experience a heavy feeling, or feeling of numbness; resting usually relieves this. Additional symptoms include burning or aching in your feet or toes at rest, changes of color in your skin, increased infections in your legs or feet and sores in your toes and feet that don’t heal. A number of medical conditions increase your risk of developing PAD, high cholesterol being one of them.

PAD Treatment

Many people with PAD have high cholesterol levels; therefore, a diet low in fat and cholesterol.  Cholesterol-lowering medications may also be necessary to manage and maintain healthy cholesterol levels. The most commonly prescribed drugs are stains. Most patients go to a rehabilitation center where they can be monitored for safety. Most plans include a combination of leg exercises, walking and treadmill exercises three times a week.

Statins

Although statins are the most commonly prescribed drugs, people taking these drugs must take them the rest of their lives, making their side effects harder to control. The most common side effect is muscle pain; this can be slight discomfort, or be so debilitating it interferes with your ability to climb stairs or walk without feeling uncomfortable or tired. Many will find this side effect subsides within a month or two of starting this drug. If the pain persists or worsens, it can lead to a rare condition known as rhabdomyolysis. In addition to severe muscle pain, rhabdomyolysis can cause kidney failure, liver damage and may result in death. Reporting a continuance in muscle and joint pain to your doctor immediately allows him to lower your dose or change your medication completely before complications arise.

Details of Autism and cerebral Palsy

Autism spectrum disorder (ASD), also known as just autism, is an umbrella term for a group of complex brain development disorders.

Unlike cerebral palsy, which mostly affects a child’s motor functioning, autism affects the normal development of the brain in areas such as social interaction, problem-solving and communication.

Causes and Risk Factors

Autism is a complex disorder that can be caused by an array of factors. ASDs have no single known cause, but there are at least three aspects that researchers agree contribute to the development of autism, including:

  • Genetics
  • Environmental factors
  • Maternal illness during pregnancy

Genetics

There are several biological differences in children with ASDs compared to children who do not have autism. Some of these genes can affect brain development and the ways in which brain cells communicate. Some genetic problems appear to be inherited, while others can occur spontaneously.

Due to the relationship between genetics and autism, parents who have one child with autism have an increased risk that their next child will also have an ASD. Additionally, if you have two children with autism, the chances that your third child will have autism increase to about 35%.

Environmental Factors

Environmental factors have recently been recognized as a potential cause of autism. Researchers are currently investigating the connection between things such as viral infections and air pollutants and the subsequent development of autism.

Maternal Conditions

There are various maternal conditions or illnesses that have been tied to autism in children. These include diabetes, hypertension and obesity during pregnancy. Additionally, a mother’s use of drugs or alcohol while pregnant has been linked as a potential cause of autism in children.

Risk Factors For Developing Autism

Autism can affect individuals of every gender, race and socioeconomic status. However, there are certain aspects that can increase the likelihood that a child will develop an ASD.

Some risk factors that increase the chances of developing an ASD are:

  • Family history – Families who have one child or more with an ASD have an increased risk of having a second or third child with the disorder.
  • A child’s sex – Males are four times more likely to develop an ASD than females.
  • The parent’s age – Children born to older parents have a higher chance of developing an ASD.
  • A premature birth – Babies born before 26 weeks have an increased risk of developing an ASD.

Types of Autism Spectrum Disorders

Individuals with an ASD have different ways of learning, paying attention and reacting to sensations and situations. The comprehension and learning capabilities of individuals with an ASD can vary from being extremely gifted in one field to severely challenged in others.

The five general types of ASDs are:

  • Autistic Disorder
  • Asperger’s Syndrome
  • Pervasive developmental disorder
  • Rett syndrome
  • Childhood disintegrative disorder

Autistic Disorder

Autistic disorder is a brain development disorder that is often present during early childhood. This type of ASD is characterized by difficulty communicating and forming relationships with others, as well as trouble grasping language and abstract concepts.

Signs of autistic disorder include:

  • Failure to respond to his or her name, or not hearing people speaking to them
  • Has poor eye contact and lacks facial expression
  • Resists cuddling or holding and seems to prefer playing alone
  • Delayed speech and language development
  • Speaks with an abnormal tone or rhythm – may use a “singsong voice” or robot-like speech
  • Performs repetitive movements, such as rocking, spinning or hand-flapping
  • Being fascinated by details of an object, such as the wheels of a toy car, but doesn’t understand the “big picture” of the subject

Asperger’s Syndrome

Also referred to as Asperger’s disorder, Asperger’s syndrome is a developmental disorder that involves a delay in the development of many basic skills. While Asperger’s syndrome is similar to autistic disorder, there are a few distinct differences.

Children with Asperger’s syndrome are typically higher functioning than those with autism, and they usually have normal intelligence and language development.

Signs of Asperger’s syndrome include:

  • Slow development of social skills
  • Eccentric or repetitive behaviors, such as hand wringing or finger twisting
  • Unusual preoccupations or rituals
  • Limited range of interest
  • Poor coordination
  • Exceptional skills or talents, such as in music, art or math

Pervasive Development Disorder

Individuals who meet some, but not all, of the criteria for autistic disorder and Asperger’s syndrome may be diagnosed with Pervasive Development Disorder, or PDD. Children with PDD usually have fewer and milder symptoms of autistic behavior and development. The symptoms of PDD mostly cause challenges in regards to social interaction and communication.

Signs of Pervasive Development Disorder include:

  • Difficulty with verbal communication and understanding spoken language
  • Challenges exhibiting nonverbal gestures, such as hand motions and facial expressions
  • Difficulty with social interaction, relating to others and their surroundings
  • Repetitive body movements or patterns of behavior, such as spinning or head banging
  • Temper tantrums
  • Aggressive behavior
  • Trouble sleeping or staying asleep
  • Difficulty adjusting to changes in routine or familiar surroundings

Rett Syndrome

Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls, however it is possible in boys as well. This condition can lead to severe impairments that affect nearly every aspect of a child’s life. Rett syndrome can hinder a child’s ability to speak, walk, eat and even breathe easily on their own. A distinct symptom associated with this syndrome is constant, repetitive hand movements.

Signs of Rett syndrome include:

  • A slowing of head growth between 6 and 18 months of age
  • Loss of muscle tone
  • Habitually wringing or rubbing hands together
  • Deteriorating language skills
  • Development of extreme social anxiety or withdrawing from others
  • A jerky, stiff-legged walk
  • Uncoordinated breathing
  • Seizures

Childhood Disintegrative Disorder (CDD)

Childhood disintegrative disorder, or Heller’s syndrome, is a rare condition characterized by a gradual decrease in development. Children with PDD usually show signs of a typical development up until the age of 3 or 4. Then, over usually a few months, children lose language, motor, social and other skills that they have already acquired. For example, a child who previously spoke in phrases of a few words will gradually or abruptly lose the ability to communicate altogether.

Signs of Childhood Disintegrative Disorder include:

  • Delay or regression of spoken language
  • Impairment in nonverbal behaviors
  • Inability to start or maintain conversations
  • Lack of bowel or bladder control
  • Loss of motor skills
  • Problems forming relationships with other children or family members

Surgery

There are multiple surgical treatments that can help correct movement problems in children with cerebral palsy. However, parents should keep in mind that surgery isn’t right for every child with cerebral palsy.

Surgery is most commonly prescribed for those with spastic cerebral palsy because their increased muscle tone can be reduced to relieve restricted movement. For example, a child who walks on their toes due to high muscle tone in their legs can have those muscles or tendons lengthened, allowing for more normal walking.

Surgeries that can improve mobility in children with high muscle tone include:

  • Muscle and tendon lengthening – A procedure used to correct contracted muscles or tendons, freeing up movement to walk or use hands.
  • Tendon transfer – Transferring tendons from one bone to another is intended to give better alignment and motor control, especially in the feet and ankles.
  • Tenotomy/myotomy – Cutting the tendon/muscle can relieve pain and restrictive movement caused by contractures—a permanent tightening of tendons or muscles.
  • Neurectomy – Cutting the nerve that controls a specific muscle group can reduce spasticity or rigidity in that area. It is generally used to correct hip dislocations.
  • Osteotomy – A procedure to realign joints by removing part of the bone.
  • Arthrodesis – Fusing two bones together can produce stability in some cases.
  • Selective dorsal rhizotomy – This aggressive procedure involves cutting specific nerves in the spinal column to correct spasticity in various muscle groups throughout the body.

Surgery is most effective when the child is old enough that doctors can determine where their movement issues are stemming from but young enough that there is still time to correct movement. This window is usually between 3-8 years of age.

Surgery may also be used to treat other conditions associated with cerebral palsy, such as hearing impairment and difficulties with feeding.

Treatments for Other Conditions Associated with CP

Many children with cerebral palsy develop co-occurring conditions as a result of their brain injury or movement problems. Each of these conditions must be treated as vigilantly as the child’s movement issues to ensure they get the best quality of life possible.

Seizures

Seizures are a disorder characterized by convulsions and sometimes a loss of consciousness. Approximately 41 percent of children with cerebral palsy have seizures. As with cerebral palsy, seizures come in varying levels of severity. Each case requires a specific approach to management. This requires surgery in some instances, but medication is the most common treatment.

Intellectual disabilities

Cerebral palsy itself does not affect intelligence. It is strictly a movement disorder. However, the brain injuries that cause CP can sometimes damage parts of the brain responsible for cognition. Some estimates suggest 25 to 60 percent of children with CP have a form of mental retardation. Estimates vary because some children with CP can’t speak or control their bodies well enough to complete an IQ test. The severity of these intellectual disability also varies. Treatment usually involves a combination of medication and behavioral therapy.

Hydrocephalus

This is a rare condition characterized by an unusual buildup of cerebrospinal fluid (CSF) within the skull. CSF has several functions, including nourishing the brain and removing waste from its surface. The buildup of CSF causes a disproportional increase in the size of the head that may be fatal. It is treated by implanting valves that allow excess CSF to drain off. The incidence of hydrocephalus is approximately less than two thousandths of a percent for every birth in the country, according to some estimates.

Gastrointestinal issues

The gastrointestinal system is complex and includes the stomach, intestines, esophagus and liver. The gastrointestinal system relies on a variety of muscles to work effectively. Children with problems chewing and swallowing often require therapy to learn how to eat effectively. Acid reflux is also a problem because the lower muscle in the esophagus isn’t strong enough to keep food in the stomach. Untreated acid reflux can be serious for children with CP. It can lead to complications such as pneumonia or esophagitis. Acid reflux can usually be controlled with special eating techniques and medication, but may require surgery in severe circumstances.

Urinary infections

Urinary tract infections are very common in children with cerebral palsy. Children with CP often struggle with bladder control and constipation because these movements require the coordination of multiple muscle groups. Many children soil themselves frequently because of a lack of normal muscle control. Parents can help prevent urinary infections by giving frequent baths and diaper changes.

Vision/hearing impairment

Brain injuries before, during or after birth may also cause  vision or hearing loss. Damage to the motor cortex can cause problems with sight. Treatment may involve removing cataracts, correcting crossed eyes or simply prescribing glasses. Up to 15 percent of children with cerebral palsy have a hearing impairment. Hearing issues are treated with surgery or hearing aids.

Dental issues

Children with athetoid cerebral palsy may experience dental issues. The inability to control muscle movement in the mouth can cause problems such as overbites, underbites, tooth decay and enamel defects.

 

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