Gaucher's disease-is a genetic disease in which a fatty substance(lipid)accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases.It is caused by a hereditary deficiency of the enzyme glucocerebrosidase(also known as acid B-glucosidase).The enzyme acts on a fatty substance glucocerebroside(also known glucosylceramide).When the enzyme is defective,glucocerebroside accumulates,particularly in white blood cells(mononuclear leukocytes).Glucocerebroside can collect in the spleen,liver,kidneys,lungs,brain and bone narrow.Symptoms may include enlarged spleen and liver,liver malfunction,skeletal disorders and bone lesions that may be painful,severe neurologic complications,swelling of lymp nodes and (occasionally)adjacent joints,distended abdomen,brownish tint to the skin,anemia,low blood platelets and yellow fatty deposits on the white of the eye(sclera).Persons affected most seriously may also be more susceptible to infection.Some forms of Gaucher's disease may be treated with enzyme replacement therapy.The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females.About 1 in 100 people in the United States are carriers of Gaucher disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450. The disease is named after the French docter Philippe Gaucher,who originally described it in 1882.
Thursday, February 17, 2011
Osteoporosis-is a disease of bones that leads to an increased risk of fracture.In osteoporosis the bone mineral density (BMD) is reduced,bone microarchitecture is deteriorating,and the amount and variety of proteins in bone is altered.Osteoporosis is defined by the World Health Organization (WHO) as a bone mineral density that is 2.5 standard deviations or more below the mean peak bone mass (average of young,healthy adults) as measured by DXA;the term "established osteoporosis" includes the presence of a fragility fracture.The disease may be classified as primary type1,primarily type2, or secondary.The form of osteoporosis most common in women after menopause is referred to as primary type1,primarily type2,or secondary.The form of osteoporosis most common in women after menopause is referred to as primarily type1 or post menopausal osteoporosis.Primary type2 osteoporosis or senile osteoporosis occurs after age 75 and is seen in both females and males at a ratio of 2:1.Finally,secondary osteoporosis may arise at any age and affects men and women equally.This form of osteoporosis results from chronic predisposing medical problems or disease,or prolonged use of medications such as glucocorticoids,when the disease is called steroid-or glucocorticoids-induced osteoporosis (Slop or Glop).Because it can greatly increase the risk fragility fracture,osteoporosis may significantly affect life expectancy and quality of life.Osteoporosis risk can be ruduced with lifestyle changes and sometime medication;in people with osteoporosis,treatment may involve both.Lifestyle change included diet and excercise,and preventing falls.Medication includes calcium,vitamin D,bisphosphonates and several others.Fall-prevention advice includes excercises;equilibrium therapies may be included.Excercise with it's anabolic effect,may at the same time stop or reverse osteoporosis.Osteoporosis is a component of the fragility syndrome.
Thursday, February 10, 2011
Cerebrovascular disease-is a group of brain dysfunction related to disease of the blood vessels supplying the brain.Hypertension is the most important cause;it damages the blood vessel lining,endothelium,exposing the underlying collagen where platelets aggregate to initiate a repairing process which is not always complete and perfect.Sustained hypertension permanently changes the architecture of the blood vessels making them narrow,stiff,deformed,uneven and more vulnerable to fluctuations in blood pressure.A fall in blood pressure during sleep can then lead to a marked reduction in blood flow in the narrowed blood vessels causing ischemic stroke in the morning.Conversely,a sudden rise in blood pressure due to excitation during the daytime can cause tearing of the blood vessels resulting in intracranial hemorrhage.Cerebrovascular disease primarily affects people who are elderly or have a history of diabetes,smoking,or ischemic heart disease.The results of cerebrovascular disease can include a stroke,or occasionally a hemorrhagic stroke.Ischemia or other blood vessels dysfunctions can affect the person during a cerebrovascular accident.