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.
Friday, January 28, 2011
Migraine is a debilitating condition characterized by moderate to severe headaches,and nausea,about 3 times more common in women than men.The word migraine was borrowed from Old French migraigne(originally as "megrim,"but respelled in 1777 on a contemporary French model).The French term derived from a vulger pronunciation of the Late Latin word hemicrania,itself based on Greek hemikrania,from Greek roots for "half" and "skull."The typical migraine headache is unilateral pain(affecting one half of the head)and pulsating in nature,lasting from 4 to 72 hours;symptoms include nausea,vomiting,photophobia(increased sensitivity to light),phonophobia(increased sensitivity to sound),and is aggravated by routine activity.Approximately one-third of people who suffer from migraine headaches perceive an aura-unusual visual,olfactory,or other sensory experiences that are a sign that the migraine will soon occur.Initial treatment is with analgesics for the headache,an antiemetic for the nausea,and the avoidance of triggering conditions.The cause of migraine headache is unknown;the most common theory is a disorder of the serotonergic control system.Studies of twins indicate a 60 to 65 percent genetic influence upon their propensity to develop migraine headache.Moreover,fluctuating hormone levels indicate a migraine relation:75 percent of adult patients are women,although migraine affects approximately equal numbers of prepubescent boys and girls;propensity to migraine headache is known to disappear during pregnancy,although in some women migraines may become more frequent during pregnancy.
Thursday, January 20, 2011
Hypertension (HTN) or high blood pressure is a chronic medical condition in which the systemic arterial blood pressure is elevated.It is the opposite of hypotension.It is classified as either primary (essential) or secondary.About 90-95% of cases are termed "primary hypertension",which refers to high blood pressure for which no medical cause by other conditions that effect the kidneys,arteries,heart,or endocrine system.Persistent hypertension is one of the risk factors for stroke,myocardial infarction,heart failure and arterial aneurysm,and is a leading cause of chronic kidney failure.Moderate elevation of arterial blood pressure leads to shortened life expectancy.Dietary and lifestyle changes can improve blood pressure control and decrease the risk of associated health complication,although drug treatment may prove necessary in patients for whom lifestyle changes prove ineffective or insufficient.
Friday, January 7, 2011
Depression is a state of low mood and aversion to activity that can affect a person's thoughts,behaviour,feelings and physical well-being.Depressed people may feel sad,anxious,empty,hopeless,worthless,guilty,irritable,or restless.They may lose interest in activities that once were pleasurable,experience overeating or loss of appetite,or problems concentrating,remembering details or making decisions;and may contemplate or attempt suicide.Insomnia,excessive sleeping,fatigue,loss of energy,or aches,pains or digestive problems that are resistant to treatment may be present.
Tuesday, January 4, 2011
Hepatitis C is an infectious disease affecting the liver,caused by the hepatitis c virus(HCV).The infection is often asymptomatic,but once established,chronic infection can progress to scarring of the liver(fibrosis),and advanced scarring (cirrhosis) which is generally apparent after many years.In some cases,those with cirrhosis will go on to develop liver failure or other complications of cirrhosis,including liver cancer  or life threatening esophageal varices and gastric varices.The hepatitis c virus is spread by blood-to-blood contact.Most people have few,if any symptoms after the initial infection,yet the virus persists in the liver in about 85% of those infected.Persistent infection can be treated with medication,peginterferon and ribavirin being the standard-of-care therapy.51% are cured overall.Those who develop cirrhosis or liver cancer may require a liver transplant,and the virus universally recurs after transplantation.An estimated 270-300 milliion people worldwide are infected with hepititis c.Hepititis c is only known to cause disease in humans.No vaccine against hepititis c is currently available.The existence of hepititis c (originally "non-A non-B hepititis") was postulated in the 1970s and proven in 1989.It is one of five known hepititis virus: A,B,C,D,and E.