Top videos
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid.
Your kidneys are two bean-shaped organs that lie just below your rib cage, on each side of your spine. They remove waste from your body, level out your blood pressure, and keep your bones strong. They also ensure that you have the right amount of chemicals, like potassium and sodium (salt), in your blood. Finally, they make the hormone that causes your body to create red blood cells.
Instead of permanently joining (fusing) vertebrae with metal rods and screws, and therefore restricting movement, the new procedure uses the Anatomic Facet Replacement System (AFRS) device that attaches to each of two adjacent vertebrae with a movable joint that mimics the spine's natural joint.
In patients with advanced congestive heart failure due to cardiomyopathy or ischemia, right ventricle shortening is the only significant independent associate of survival by multivariate analysis (as opposed to other parameters including left ventricular ejection fraction, cardiac index, and pulmonary resistance).
Thalassemia is a genetic blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.
When United Airlines decides their employees flying to Kentucky is more important than a doctor or any passenger who paid for their ticket it is time to STOP FLYING UNITED!!! Here are United employees dragging the man off the plane like a criminal.
Bartter syndrome, originally described by Bartter and colleagues in 1962, [1] represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium.
Bartter syndrome has traditionally been classified into three main clinical variants, as follows: Neonatal (or antenatal) Bartter syndrome Classic Bartter syndrome Gitelman syndrome Advances in molecular diagnostics have revealed that Bartter syndrome results from mutations in numerous genes that affect the function of ion channels and transporters that normally mediate transepithelial salt reabsorption in the distal nephron segments. Hundreds of mutations have been identified to date. Such advances may result in the development of new therapies (see the image below). [2] (See Pathophysiology and Etiology.)
Intussusception (in-tuh-suh-SEP-shun) is a serious condition in which part of the intestine slides into an adjacent part of the intestine. This "telescoping" often blocks food or fluid from passing through. Intussusception also cuts off the blood supply to the part of the intestine that's affected, which can lead to a tear in the bowel (perforation), infection and death of bowel tissue.
Gastroschisis is a birth defect that develops in a baby while a woman is pregnant. This condition occurs when an opening forms in the baby's abdominal wall. The baby's bowel pushes through this hole. It then develops outside of the baby's body in the amniotic fluid.
A pneumothorax (noo-moe-THOR-aks) is a collapsed lung. A pneumothorax occurs when air leaks into the space between your lung and chest wall. This air pushes on the outside of your lung and makes it collapse. In most cases, only a portion of the lung collapses.
Do you suffer with depression? Maybe you’ve recently been diagnosed or are a caregiver to someone with depression. Learn more about this common mood disorder, including depression causes, risk factors, and prevention. We’ll help you take control of your depression and live an active, healthy life.
Dopamine is the one neurotransmitter that everyone seems to know about. Vaughn Bell once called it the Kim Kardashian of molecules, but I don’t think that’s fair to dopamine. Suffice it to say, dopamine’s big. And every week or so, you’ll see a new article come out all about dopamine.
Heart failure can be ongoing (chronic), or your condition may start suddenly (acute). Heart failure signs and symptoms may include: Shortness of breath (dyspnea) when you exert yourself or when you lie down Fatigue and weakness Swelling (edema) in your legs, ankles and feet Rapid or irregular heartbeat Reduced ability to exercise Persistent cough or wheezing with white or pink blood-tinged phlegm Increased need to urinate at night Swelling of your abdomen (ascites) Sudden weight gain from fluid retention Lack of appetite and nausea Difficulty concentrating or decreased alertness Sudden, severe shortness of breath and coughing up pink, foamy mucus Chest pain if your heart failure is caused by a heart attack