Health and Fitness

 Propionic Acidemia Summary Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. It is characterized by deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical “building blocks” (amino acids) of proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), dehydration and seizures. Without appropriate treatment, coma and death may result. Rarely, the condition may become apparent later in life and may be associated with less severe symptoms and findings. Propionic acidemia is inherited in an autosomal recessive pattern. Individuals with this condition have to follow a specific diet including a low protein intake and specific food formulas (medical foods). Liver transplant is a surgical option that can help decrease the frequency ...

  Optic Nerve Sheath Meningioma Overview A meningioma is a tumor that arises from the meninges — the membranes that surround the brain and spinal cord. Although not technically a brain tumor, it is included in this category because it may compress or squeeze the adjacent brain, nerves and vessels. Meningioma is the most common type of tumor that forms in the head. Most meningiomas grow very slowly, often over many years without causing symptoms. But sometimes, their effects on nearby brain tissue, nerves or vessels may cause serious disability. Meningiomas occur more commonly in women and are often discovered at older ages, but they may occur at any age. Because most meningiomas grow slowly, often without any significant signs and symptoms, they do not always require immediate treatment and may be monitored over time. Symptoms Signs and symptoms of a meningioma typically begin gradually and may be very subtle at first. Depending on where in the brain or, rarely, spine the tumor is ...

  Huntington Disease Dementia OVERVIEW Huntington's disease is a progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person’s entire genetic code. This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease. The disorder is named for George Huntington, M.D., the physician who first described it in the late 1800s. The defective gene codes the blueprint for a protein called huntingtin. This protein's normal function isn't yet known, but it's called "huntingtin" because scientists identified its defective form as the cause of Huntington's disease. Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes. Symptoms Symptoms of Huntington's disease usually develop b...

Congenital heart disease OVERVIEW Congenital heart disease is one or more problems with the heart's structure that exist since birth. Congenital means that you're born with the condition. Congenital heart disease in adults and children can change the way blood flows through the heart. There are many different types of congenital heart defects. This article focuses on congenital heart disease in adults. Some types of congenital heart disease may be mild. But complex defects may cause life-threatening complications. However, advances in diagnosis and treatment continue to improve survival for those with congenital heart disease. People with congenital heart disease need lifelong medical care. Treatment may include regular checkups (watchful waiting), medications or surgery. If you have adult congenital heart disease, ask your health care provider how often you need a checkup. Symptoms For some people, signs or symptoms of congenital heart disease aren't noticed until adulthoo...

Dactylitis Disease Dactylitis Disease OVERVIEW Dactylitis is the medical term for severe swelling that affects your fingers or toes (your digits). It’s sometimes called “sausage fingers” because of the round, puffed up shape it gives your digits. Most types of inflammation only affect a specific area. Usually, swelling will be concentrated in one spot that’s injured or damaged — picture the welt that forms on your leg if you bang your shin on a coffee table. But if you’re experiencing dactylitis, your entire finger or toe (the whole digit) will be swollen along its whole length. *Pain. *A feeling of warmth or heat. *Discoloration. *Difficulty moving or bending your digit the way you usually can. Visit a healthcare provider if you notice any symptoms of dactylitis. Swelling that affects your whole finger or toe might be a symptom of a condition you already have, but it can also be a sign of a serious infection or a new issue that needs treatment as soon as possible. Symptoms The primary...

Ulcerative colitis Overview Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine, also called the colon, and rectum. In most people, symptoms usually develop over time, rather than suddenly. Ulcerative colitis can be draining and can sometimes lead to life-threatening complications. While it has no known cure, there are several new treatments that can greatly reduce signs and symptoms of the disease and bring about long-term remission. Symptoms Ulcerative colitis symptoms can vary, depending on the severity of inflammation and where it occurs. Signs and symptoms may include: *Diarrhea, often with blood or pus *Rectal bleeding — passing small amount of blood with stool *Abdominal pain and cramping *Rectal pain *Urgency to defecate *Inability to defecate despite urgency *Weight loss *Fatigue *Fever *In children, fail...

  Malignant Carcinoid Syndrome Overview Carcinoid syndrome occurs when a rare cancerous tumor called a carcinoid tumor secretes certain chemicals into your bloodstream, causing a variety of signs and symptoms. A carcinoid tumor, which is a type of neuroendocrine tumor, occurs most often in the gastrointestinal tract or the lungs. Carcinoid syndrome typically occurs in people who have carcinoid tumors that are advanced. Treatment for carcinoid syndrome usually involves treating the cancer. However, because most carcinoid tumors don't cause carcinoid syndrome until they're advanced, a cure may not be possible. Medications may be recommended to relieve your carcinoid syndrome symptoms and make you more comfortable. Symptoms The signs and symptoms of carcinoid syndrome depend on which chemicals the carcinoid tumor secretes into your bloodstream. The most common signs and symptoms include: Skin flushing. The skin on your face and upper chest feels hot and changes color — ranging fro...