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Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas).
For both DCIS and invasive cancer, radiation therapy to the remaining breast tissue is generally recommended after surgery. A lumpectomy may also be called breast-conserving surgery, a partial mastectomy, quadrantectomy, or a segmental mastectomy. A mastectomy is the surgical removal of the entire breast.
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.
A nephron (from Greek νεφρός (nephros) meaning "kidney") is the basic structural and functional unit of the kidney. Its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine.
Lithium, a mood stabilizer used in bipolar disorder, has a narrow therapeutic index (small difference between therapeutic and toxic levels}. This patient's gradual onset of neurologic symptoms (slurred speech, confusion, tremors, and ataxia) is consistent with chronic lithium toxicity. Therapeutic lithium levels are 0.8- 1.2 mEq/L. Serum lithium levels >1.5 mEq/L confirm toxicity, and levels ;::2 .5 mEq/L require emergency management.
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.
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.
Mother-to-child transmission of HIV is the spread of HIV from an HIV-infected woman to her child during pregnancy, childbirth (also called labor and delivery), or breastfeeding (through breast milk). Mother-to-child transmission of HIV is also called perinatal transmission of HIV.
Phencyclidine (PCP) was developed in the 1950s as an intravenous anesthetic but, due to the side effects of confusion and delirium, its development for human medical use was discontinued. In its pure form, it is a white crystalline powder that readily dissolves in water or alcohol and has a distinctive bitter chemical taste. On the illicit drug market, Phencyclidine contains a number of contaminants as a result of makeshift manufacturing, causing the color to range from tan to brown, and the consistency to range from powder to a gummy mass. It is available in a variety of tablets, capsules, and colored powders, which are either taken orally or snorted. The liquid form of phencyclidine is actually phencyclidine base dissolved most often in ether, a highly flammable solvent. For smoking, phencyclidine is typically sprayed onto leafy material such as mint, parsley, oregano, or marijuana.
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.
Furosemide is a prescription drug. It’s available in two forms that you take by mouth: a tablet and a solution. It’s also available as an injectable solution, which is given by a healthcare provider. The furosemide tablet is available as the brand-name drug Lasix. It’s also available as a generic drug. Generic drugs usually cost less. In some cases, they may not be available in every strength or form as the brand-name version.
A leaking mitral valve allows blood to flow in two directions during the contraction. Some blood flows from the ventricle through the aortic valve – as it should – and some blood flows back into the atrium. A leaking (or regurgitant) aortic valve allows blood to flow in two directions. Oxygen-rich blood either flows out through the aorta to the body – as it should – or it flows backwards from the aorta into the left ventricle when the ventricle relaxes. Leaking valves can cause the heart to work harder to pump the same amount of blood.