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There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). Loss of CaSR function results in a reduction in the sensitivity of parathyroid and renal cells to calcium levels so hypercalcemia is perceived as normal. The other 35% have either a mutation GNA11 (19p13.3) seen in FHH type 2 or AP2S1 (19q13.2-q13.3) seen in FHH type 3 (see these terms) or in genes not yet discovered. FHH is rarely caused by auto-antibodies against CaSR in those without a mutation.
The vast majority of glucocorticoid activity in most mammals is from cortisol, also known as hydrocortisone. Corticosterone, the major glucocorticoid in rodents, is another glucocorticoid. Cortisol binds to the glucocorticoid receptor in the cytoplasm and the hormone-receptor complex is then translocated into the nucleus, where it binds to its DNA response element and modulates transcription from a battery of genes, leading to changes in the cell's phenotype. Only about 10% of circulating cortisol is free. The remaining majority circulates bound to plasma proteins, particularly corticosteroid-binding globulin (transcortin). This protein binding likely decreases the metabolic clearance rate of glucocorticoids and, because the bound steroid is not biologically active, tends to act as a buffer and blunt wild fluctuations in cortisol concentration.
The "great arteries" in this anomaly refer to the aorta and the pulmonary artery, the two major arteries carrying blood away from the heart. In cases of transposition of the great arteries, these vessels arise from the wrong ventricle. They are "transposed" from their normal position so that the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. Other heart defects may occur along with transposition of the great arteries. About 25 percent of children with transposition will also have a ventricular septal defect (VSD) . In nearly a third, the branching pattern of the coronary arteries as they leave the transposed aorta is unusual. Infants may also have narrowing below the pulmonary valve that blocks blood flow from the left ventricle to the lungs.
This medical 3D animation exhibit shows the left brachial plexus during birth and shoulder dystocia. Anatomy: symphysis pubis, uterus, sacrum, coccyx and fetus. "McRoberts Position". An episiotomy is cut. Brachial Plexus stretch injury. Retraction of head (turtle sign). Suprapubic pressure, gentle traction. To view our medical library of exhibits,
This animated video is an informative video that provides information regarding Upper Gastro-intestinal Endoscopy. An upper GI endoscopy procedure allows your doctor to view the mucus lining of the upper portion of your gastro-intestinal tract. This includes your oesophagus, stomach and duodenum. Upper endoscopy is used to evaluate symptoms of persistent upper abdominal pain, nausea, vomiting, bleeding, or difficulty in swallowing. The procedure is performed using an endoscope which is a long thin flexible tube a light and a tiny video camera attached to the end. The camera transmits the image to a monitor. Uncomplicated upper endoscopy takes 10-20 minutes, your doctor will gently insert the endoscope through your mouth and then slowly and carefully move it down your oesophagus until it reaches your stomach. An endoscopy for stomach may also be necessary in some cases.
Sound waves enter the ear canal and make the ear drum vibrate. This action moves the tiny chain of bones (ossicles – malleus, incus, stapes) in the middle ear. The last bone in this chain 'knocks' on the membrane window of the cochlea and makes the fluid in the cochlea move.
Most people with TS are not significantly impaired by their symptoms and therefore do not require treatment with medication. However, several medications are available to control TS symptoms that interfere with functioning. Except in more severe cases when tics are sometimes painful, the main reasons for medication are to improve appearance and lessen embarrassing social interactions. As with all medications, there are possible side effects that should be monitored carefully by the physician. Patients should always be included in the decision to take medication, as they are the best judge of how disruptive the symptoms are to them. Early diagnosis and treatment are crucial to help the person with TS cope with his or her condition. Often, people make fun of a person with TS. Parents of children with TS also may find it difficult to cope with their child's behavior. When people with TS are diagnosed correctly and treated for the condition early, they can learn to cope with their disorder and accept that they are ok and normal.
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).
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.
Frontotemporal dementia (frontotemporal lobar degeneration) is an umbrella term for a diverse group of uncommon disorders that primarily affect the frontal and temporal lobes of the brain — the areas generally associated with personality, behavior and language. In frontotemporal dementia, portions of these lobes shrink (atrophy). Signs and symptoms vary, depending upon the portion of the brain affected. Some people with frontotemporal dementia undergo dramatic changes in their personality and become socially inappropriate, impulsive or emotionally indifferent, while others lose the ability to use language.
The brain is the most complex organ in our body. It controls everything we do, from simple things such as breathing, to complex things such as co-ordinating our movements. The brain stores our memories, allows us to think and speak, and controls how we behave
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.
A filling is a way to restore a tooth damaged by decay back to its normal function and shape. When a dentist gives you a filling, he or she first removes the decayed tooth material, cleans the affected area, and then fills the cleaned out cavity with a filling material. By closing off spaces where bacteria can enter, a filling also helps prevent further decay. Materials used for fillings include gold, porcelain, a composite resin (tooth-colored fillings), and an amalgam (an alloy of mercury, silver, copper, tin and sometimes zinc).