Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose.

NTIS refers to a syndrome found in seriously ill or starving patients with low fT3, usually elevated RT3, normal or low TSH, and if prolonged, low fT4. It is found in a high proportion of patients in the ICU setting, and correlates with a poor prognosis if TT4 is <4ug/dl. The patho-physiology includes suppression of TRH release, reducedT3 and T4 turnover, reduction in liver generation of T3, increased formation of RT3, and tissue specific down-regulation of deiodinases, transporters, and TH receptors. Although long debated, tissue TH levels are definitely reduced, and tissue hypothyroidism is presumably present. This is often not clinically evident because of the brief duration, and reduced but not absent tissue levels of TH. Although recognized for nearly 4 decades, interpretation of the syndrome is contested, because of lack of data. Some observes, totally without data, argue that it is a protective response and should not be treated. Other observers (as in this review) present available data suggesting, but not proving, that thyroid hormone replacement is appropriate, not harmful, and may be beneficial. The best form of treatment (TRH,TSH,or T3+T4) and possible accompanying treatments (GHRH, Cortisol, nutrition, insulin) lack consensus. In this review current data are laid out for reader’s review and judgment.

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.

Cervical Mucus

How to Check Cervical Mucus

Device that keeps a donor heart beating

A retroverted uterus (tilted uterus, tipped uterus) is a uterus that is tilted posteriorly. This is in contrast to the slightly "anteverted" uterus that most women have, which is tipped forward toward the bladder, with the anterior end slightly concave.

Womb Fight amazing

knife spoon and toothbrush removed from stomach

This video shows the technique of suprapatellar tibial nailing as used for a segmental tibia fracture. The broken leg was treated with the nail to allow immediate mobility and range of motion; no cast was needed for this injury.

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.

Primary biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is a chronic liver disease resulting from progressive destruction of the bile ducts in the liver – called the intrahepatic bile ducts. Bile produced in your liver travels via these ducts to your small intestine where it aids in the digestion of fat and fat-soluble vitamins (A, D, E and K). When the ducts are destroyed, bile builds up in the liver contributing to inflammation and scarring (fibrosis). Eventually this can lead to cirrhosis and its associated complications, as scar tissue replaces healthy liver tissue and liver function becomes increasingly impaired.

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.

Alzheimer’s disease is the most common cause of dementia and also the best understood. It is thought to be caused by the formation of abnormal deposits of protein in the brain.

Sarcoidosis is an inflammatory disease that affects multiple organs in the body, but mostly the lungs and lymph glands. In people with sarcoidosis, abnormal masses or nodules (called granulomas) consisting of inflamed tissues form in certain organs of the body. These granulomas may alter the normal structure and possibly the function of the affected organ(s).

Gross Tooth extraction ( For root removal )

In Deep Vein Thrombosis, blood clot is able to reach the heart and from there it transport to the arteries of the lungs, where it may stuck in the...

Beating Heart during surgery

Scleroderma and systemic sclerosis