Thursday, July 31, 2008

RHEUMATOID ARTHRITIS






RHEUMATOID ARTHRITIS




Rheumatoid arthritis is an autoimmune disease that causes chronic inflammation of the joints. Rheumatoid arthritis can also cause inflammation of the tissue around the joints, as well as in other organs in the body




CAUSES




The cause of rheumatoid arthritis is unknown. Even though infectious agents such as viruses, bacteria, and fungi have long been suspected, none has been proven as the cause. The cause of rheumatoid arthritis is a very active area of worldwide research


SYMPTOMS




The symptoms of rheumatoid arthritis come and go, depending on the degree of tissue inflammation. When body tissues are inflamed, the disease is active. When tissue inflammation subsides, the disease is inactive (in remission). Remissions can occur spontaneously or with treatment, and can last weeks, months, or years. During remissions, symptoms of the disease disappear, and patients generally feel well. When the disease becomes active again (relapse), symptoms return. The return of disease activity and symptoms is called a flare. The course of rheumatoid arthritis varies from patient to patient, and periods of flares and remissions are typical.
When the disease is active, symptoms can include fatigue, lack of appetite, low-grade fever, muscle and joint aches, and stiffness. Muscle and joint stiffness are usually most notable in the morning and after periods of inactivity. Arthritis is common during disease flares. Also during flares, joints frequently become red, swollen, painful, and tender. This occurs because the lining tissue of the joint (synovium) becomes inflamed, resulting in the production of excessive joint fluid (synovial fluid). The synovium also thickens with inflammation (synovitis).
In rheumatoid arthritis, multiple joints are usually inflamed in a symmetrical pattern (both sides of the body affected). The small joints of both the hands and wrists are often involved. Simple tasks of daily living, such as turning door knobs and opening jars can become difficult during flares. The small joints of the feet are also commonly involved. Occasionally, only one joint is inflamed. When only one joint is involved, the arthritis can mimic the joint inflammation caused by other forms of arthritis, such as gout or joint infection. Chronic inflammation can cause damage to body tissues, cartilage and bone. This leads to a loss of cartilage and erosion and weakness of the bones as well as the muscles, resulting in joint deformity, destruction, and loss of function. Rarely, rheumatoid arthritis can even affect the joint that is responsible for the tightening of our vocal cords to change the tone of our voice, the cricoarytenoid joint. When this joint is inflamed, it can cause hoarseness of voice.
Since rheumatoid arthritis is a systemic disease, its inflammation can affect organs and areas of the body other than the joints. Inflammation of the glands of the eyes and mouth can cause dryness of these areas and is referred to as Sjogren's syndrome. Rheumatoid inflammation of the lung lining (pleuritis) causes chest pain with deep breathing or coughing. The lung tissue itself can also become inflamed, and sometimes nodules of inflammation (rheumatoid nodules) develop within the lungs. Inflammation of the tissue (pericardium) surrounding the heart, called pericarditis, can cause a chest pain that typically changes in intensity when lying down or leaning forward. The rheumatoid disease can reduce the number of red blood cells (anemia) and white blood cells. Decreased white cells can be associated with an enlarged spleen (referred to as Felty's syndrome) and can increase the risk of infections. Firm lumps under the skin (rheumatoid nodules) can occur around the elbows and fingers where there is frequent pressure. Even though these nodules usually do not cause symptoms, occasionally they can become infected. A rare, serious complication, usually with long-standing rheumatoid disease, is blood-vessel inflammation (vasculitis). Vasculitis can impair blood supply to tissues and lead to tissue death. This is most often initially visible as tiny black areas around the nail beds or as leg ulcers.


DIAGNOSIS




first step in the diagnosis of rheumatoid arthritis is a meeting between the doctor and the patient. The doctor reviews the history of symptoms, examines the joints for inflammation and deformity, the skin for rheumatoid nodules, and other parts of the body for inflammation. Certain blood and x-ray tests are often obtained. The diagnosis will be based on the pattern of symptoms, the distribution of the inflamed joints, and the blood and x-ray findings. Several visits may be necessary before the doctor can be certain of the diagnosis. A doctor with special training in arthritis and related diseases is called a rheumatologist.
The distribution of joint inflammation is important to the doctor in making a diagnosis. In rheumatoid arthritis, the small joints of the hands, wrists, feet, and knees are typically inflamed in a symmetrical distribution (affecting both sides of the body). When only one or two joints are inflamed, the diagnosis of rheumatoid arthritis becomes more difficult. The doctor may then perform other tests to exclude arthritis due to infection or gout. The detection of rheumatoid nodules (described above), most often around the elbows and fingers, can suggest the diagnosis.
Abnormal blood antibodies can be found in patients with rheumatoid arthritis. A blood antibody called "rheumatoid factor" can be found in 80% of patients. Citrulline antibody (also referred to as anti-citrulline antibody, anti-cyclic citrullinated peptide antibody, and anti-CCP) is present in most patients with rheumatoid arthritis. It is useful in the diagnosis of rheumatoid arthritis when evaluating patients with unexplained joint inflammation. A test for citrulline antibodies is most helpful in looking for the cause of previously undiagnosed inflammatory arthritis when the traditional blood test for rheumatoid arthritis, rheumatoid factor, is not present. Citrulline antibodies have been felt to represent the earlier stages of rheumatoid arthritis in this setting. Another antibody called "the antinuclear antibody" (ANA) is also frequently found in patients with rheumatoid arthritis.
A blood test called the sedimentation rate (sed rate) is a measure of how fast red blood cells fall to the bottom of a test tube. The sed rate is used as a crude measure of the inflammation of the joints. The sed rate is usually faster during disease flares and slower during remissions. Another blood test that is used to measure the degree of inflammation present in the body is the C-reactive protein. The rheumatoid factor, ANA, sed rate, and C-reactive protein tests can also be abnormal in other systemic autoimmune and inflammatory conditions. Therefore, abnormalities in these blood tests alone are not sufficient for a firm diagnosis of rheumatoid arthritis.
Joint x-rays may be normal or only show swelling of soft tissues early in the disease. As the disease progresses x-rays can show bony erosions typical of rheumatoid arthritis in the joints. Joint x-rays can also be helpful in monitoring the progression of disease and joint damage over time. Bone scanning, a radioactive test procedure, can demonstrate the inflamed joints.
The doctor may elect to perform an office procedure called arthrocentesis. In this procedure, a sterile needle and syringe are used to drain joint fluid out of the joint for study in the laboratory. Analysis of the joint fluid, in the laboratory, can help to exclude other causes of arthritis, such as infection and gout. Arthrocentesis can also be helpful in relieving joint swelling and pain. Occasionally, cortisone medications are injected into the joint during the arthrocentesis in order to rapidly relieve joint inflammation and further reduce symptoms.




TREATMENT




There is no known cure for rheumatoid arthritis. To date, the goal of treatment in rheumatoid arthritis is to reduce joint inflammation and pain, maximize joint function, and prevent joint destruction and deformity. Early medical intervention has been shown to be important in improving outcomes. Aggressive management can improve function, stop damage to joints as seen on x-rays, and prevent work disability. Optimal treatment for the disease involves a combination of medications, rest, joint-strengthening exercises, joint protection, and patient (and family) education. Treatment is customized according to many factors such as disease activity, types of joints involved, general health, age, and patient occupation. Treatment is most successful when there is close cooperation between the doctor, patient, and family members.
Two classes of medications are used in treating rheumatoid arthritis: fast-acting "first-line drugs" and slow-acting "second-line drugs" (also referred to as disease-modifying antirheumatic drugs or DMARDs). The first-line drugs, such as aspirin and cortisone (corticosteroids), are used to reduce pain and inflammation. The slow-acting second-line drugs, such as gold, methotrexate and hydroxychloroquine (Plaquenil) promote disease remission and prevent progressive joint destruction, but they are not antiinflammatory agents.
The degree of destructiveness of rheumatoid arthritis varies from patient to patient. Patients with uncommon, less destructive forms of the disease or disease that has quieted after years of activity ("burned out" rheumatoid arthritis) can be managed with rest, pain and antiinflammatory medications alone. In general, however, patients improve function and minimize disability and joint destruction when treated earlier with second-line drugs (disease-modifying antirheumatic drugs), even within months of the diagnosis. Most patients require more aggressive second-line drugs, such as methotrexate, in addition to antiinflammatory agents. Sometimes these second-line drugs are used in combination. In some patients with severe joint deformity, surgery may be necessary.




Proper, regular exercise is important in maintaining joint mobility and in strengthening the muscles around the joints. Swimming is particularly helpful because it allows exercise with minimal stress on the joints. Physical and occupational therapists are trained to provide specific exercise instructions and can offer splinting supports. For example, wrist and finger splints can be helpful in reducing inflammation and maintaining joint alignment. Devices, such as canes, toilet seat raisers, and jar grippers can assist daily living. Heat and cold applications are modalities that can ease symptoms before and after exercise.
Surgery may be recommended to restore joint mobility or repair damaged joints. Doctors who specialize in joint surgery are orthopedic surgeons. The types of joint surgery range from arthroscopy to partial and complete replacement of the joint. Arthroscopy is a surgical technique whereby a doctor inserts a tube-like instrument into the joint to see and repair abnormal tissues.
Total joint replacement is a surgical procedure whereby a destroyed joint is replaced with artificial materials. For example, the small joints of the hand can be replaced with plastic material. Large joints, such as the hips or knees, are replaced with metals. For more information, please read the Total Hip Replacement and Total Knee Replacement articles.




PHYSIOTHERAPY




Rheumatoid arthritis (RA) is a chronic and painful clinical condition that leads to progressive joint damage, disability, deterioration in quality of life, and shortened life expectancy. Even mild inflammation may result in irreversible damage and permanent disability. The clinical course according to symptoms may be either intermittent or progressive in patients with RA. In most patients, the clinical course is progressive, and structural damage develops in the first 2 years. The aim of RA management is to achieve pain relief and prevent joint damage and functional loss. Physiotherapy and rehabilitation applications significantly augment medical therapy by improving the management of RA and reducing handicaps in daily living for patients with RA. In this review, the application of physiotherapy modalities is examined, including the use of cold/heat applications, electrical stimulation, and hydrotherapy. Rehabilitation treatment techniques for patients with RA such as joint protection strategies, massage, exercise, and patient education are also presented.
Introduction
RA is a chronic and progressive disease leading to considerable physical functional loss and disability. Currently, there is no curative therapy for RA; therefore, patients are subjected to various life-long treatment modalities. Thus, an important component of successful management of the disease is educating patients and informing them about the planned treatment modalities. Objectives of physiotherapy and rehabilitation applications in patients with RA are to prevent disability, to increase functional capacity, to provide pain relief, and to provide patient education.[1]
Before starting therapy, the physiotherapy needs of patients are determined in accordance with their incapacity, disability, and handicaps. Physical assessment should include these components:
Functional assessment (ie, transfer status, analysis of gait, activities of daily living);
Range of joint motion (ROM) (for all joints);
Muscle strength test (manual or by isokinetic equipment);
Postural assessment; and
Evaluation of respiratory function.
It should be remembered that presence of inflammation, instability, and contractures may affect the results of these evaluations and tests. Scales such as Arthritis Impact Measurement Scale I and II, Health Assessment Questionnaire, and Functional Independence Measure may be used for functional assessment.[2-4]










Monday, July 14, 2008

MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY

Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles. It's caused by incorrect or missing genetic information that prevents the body from making the proteins it needs to build and maintain healthy muscles.
A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems.
There are several major forms of muscular dystrophy, which can affect a child's muscles in different levels of severity. In some cases, MD starts causing muscle problems in infancy, while in others, symptoms don't appear until adulthood.

SYMPTOMS OF MUSCULAR DYSTROPHY

A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk (walk on the toes without the heels hitting the floor). A child may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle. It is also common for a young child with MD to develop enlarged calf muscles, a condition called calf pseudohypertrophy, as muscle tissue is destroyed and replaced by fat.

DIAGNOSIS

When a doctor first suspects that a child has muscular dystrophy, he or she probably will do a physical exam, take a family history, and ask about any problems - particularly those affecting the muscles - that the child might be experiencing.
In addition, the doctor may perform a series of tests to determine what type of MD a child may have and to rule out any other diseases that may be causing a problem. This might include a blood test to measure levels of serum creatine kinase, an enzyme that's released into the bloodstream when muscle fibers are deteriorating. Elevated levels of this enzyme indicate that something is causing muscle damage.
The doctor also may do a blood test to check a child's DNA for gene abnormalities, or a muscle biopsy to examine a muscle tissue sample for patterns of deterioration and abnormal levels of dystrophin, a protein that helps muscle cells keep their shape and length. Without dystrophin, the muscles break down.

TYPES OF MUSCULAR DYSTROPHY


The different types of muscular dystrophy affect different sets of muscles and result in different degrees of muscle weakness.

DUCHENNE muscular dystrophy is the most common and the most severe form of the disease. It affects about 1 out of every 3,500 boys. (Girls can carry the gene that causes the disease, but they usually have no symptoms.) This form of MD occurs because of a problem with the gene that makes dystrophin. Without this protein, the muscles break down and a child becomes weaker.
In cases of Duchenne muscular dystrophy, symptoms usually begin to appear around age 5, as the pelvic muscles begin to weaken. Most kids with this form of MD need to use a wheelchair by age 12. Over time, their muscles weaken in the shoulders, back, arms, and legs. Eventually, the respiratory muscles are affected, and a ventilator is required to assist breathing. Kids who have Duchenne muscular dystrophy typically have a life span of about 20 years.

BECKERS muscular dystrophy is similar to Duchenne, but it is less common and progresses more slowly. This form of MD affects approximately 1 in 30,000 boys. It too is caused by insufficient production of dystrophin

MYOTONIC dystrophy, also known as Steinert's disease, is the most common adult form of muscular dystrophy, although half of all cases are diagnosed in people who are younger than 20 years old. It is caused by a portion of a particular gene that is larger than it should be. The symptoms can appear at any time during a child's life

LIMB-GIRDLE muscular dystrophy affects boys and girls equally. Typically, symptoms begin when kids are between 8 and 15 years old. This form of MD progresses slowly, affecting the pelvic, shoulder, and back muscles. The severity of muscle weakness varies from person to person. Some kids develop only mild weakness while others develop severe disabilities and as adults need a wheelchair to get around.


FASCIOSCAPULOHUMERAL muscular dystrophy can affect both boys and girls, and the symptoms usually first appear during the teen years. This form of muscular dystrophy tends to progress slowly.

CARING THE KID

If your child is diagnosed with muscular dystrophy, a team of medical specialists will work with you and your family. That team will likely include: a neurologist, orthopedist, pulmonologist, physical and occupational therapist, nurse practitioner, cardiologist, registered dietician, and a social worker.
Muscular dystrophy is often degenerative, so kids may pass through different stages as the disease progresses and require different kinds of treatment. During the early stages, physical therapy, joint bracing, and the medication prednisone are often used. During the later stages, doctors may use assistive devices such as:
physical therapy and bracing to improve your child's flexibility
power wheelchairs and scooters to improve your child's mobility
a ventilator to support your child's breathing
robotics to help your child perform routine daily tasks

Osteomyelitis is a bone infection usually caused by bacteria, including mycobacteria, but is sometimes caused by fungi.
Bacteria or fungi can infect bones by spreading through the bloodstream, spreading from nearby tissue, or directly invading the bone.
People have pain in one part of the bone, fever, and weight loss.
Blood tests and x-rays are done, and doctors remove a sample of bone for tests.
Antibiotics are given for weeks, and surgery may be needed.

Osteomyelitis occurs most commonly in young children and in older people, but all age groups are at risk. Osteomyelitis is also more likely to occur in people with serious medical conditions.
When a bone becomes infected, the soft, inner part (bone marrow) often swells. As the swollen tissue presses against the rigid outer wall of the bone, the blood vessels in the bone marrow may become compressed, which reduces or cuts off the blood supply to the bone. Without an adequate blood supply, parts of the bone may die. These areas of dead bone are difficult to cure of infection because it is difficult for the body's natural infection-fighting cells and antibiotics to reach them. The infection can also spread outward from the bone to form collections of pus (abscesses) in adjacent soft tissues, such as the muscle.
CAUSES
Bones, which usually are well protected from infection, can become infected through three routes:
The bloodstream (which may carry an infection from another part of the body to the bones)
Direct invasion (infection)
Infections in adjacent bone or soft tissues

When organisms that cause osteomyelitis spread through the bloodstream, infection usually occurs in the ends of leg and arm bones in children and in the spine (vertebrae) in adults, particularly in older people. Infections of the vertebrae are referred to as vertebral osteomyelitis. People who undergo kidney dialysis and those who inject drugs using nonsterile needles are particularly susceptible to vertebral osteomyelitis.
Bacteria or fungal spores may infect the bone directly through open fractures, during bone surgery, or from contaminated objects that pierce the bone. Staphylococcus aureus is the bacteria most commonly responsible. Mycobacterium tuberculosis (the main cause of tuberculosis) can infect the vertebrae to cause osteomyelitis
DIAGNOSIS
Symptoms and findings during a physical examination may suggest osteomyelitis. For example, doctors may suspect osteomyelitis in a person who has persistent pain in part of a bone with or without a fever and feels tired much of the time.
Elevations in the erythrocyte sedimentation rate (ESR—a test that measures the rate at which red blood cells settle to the bottom of a test tube containing blood), and an elevated level of C-reactive protein (a protein that circulates in the blood and dramatically increases in level when there is inflammation) usually occur. Also, blood tests often indicate elevated levels of white blood cells. However, these blood tests are not sufficient to diagnose osteomyelitis
PROGNOSIS AND PREVENTION
Prognosis and Prevention
The prognosis for people with osteomyelitis is usually good with early and proper treatment. However, sometimes, chronic osteomyelitis develops, and a bone abscess may recur weeks to months or years later.
TREATMENT
Treatment
For children and adults who have recently developed bone infections through the bloodstream, antibiotics are the most effective treatment. If the bacteria causing the infection cannot be identified, then antibiotics that are effective against Staphylococcus aureus and many types of bacteria (broad-spectrum antibiotics are used. Depending on the severity of the infection, antibiotics may be given by vein (intravenously) for about 4 to 8 weeks but then may be given by mouth later. Some people need months of antibiotic treatment.