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Wolman Disease
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) is an autosomal recessive inborn error of metabolism that results in the body not producing enough active Lysosomal lipase, lysosomal acid lipase (LAL) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that have LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, Intestine, gut, in the wall of blood vessels and other important organs. Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life. The accumulation of fat in the walls of the gut in early onset disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. Because of these digest ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Dysfunction
Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. Although the diseases differ in detail, liver diseases often have features in common. Signs and symptoms Some of the signs and symptoms of a liver disease are the following: * Jaundice * Confusion and altered consciousness caused by hepatic encephalopathy. * Thrombocytopenia and coagulopathy. * Risk of bleeding symptoms particularly taking place in gastrointestinal tract Liver diseases File:Ground glass hepatocytes high mag cropped 2.jpg, Ground glass hepatocytes File:Primary biliary cirrhosis intermed mag much cropping.jpg, Primary biliary cirrhosis File:Buddchiari2.PNG, Budd-chiari syndrome File:Non-alcoholic_fatty_liver_disease1.jpg, Micrograph of non-alcoholic fatty liver disease There are more than a hundred different liver diseases. Some of the most common are: * Fascioliasis, a parasitic infection of liver caused by a liver fluke of the genus ''F ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steatorrhea
Steatorrhea (or steatorrhoea) is the presence of excess fat in feces. Stools may be bulky and difficult to flush, have a pale and oily appearance, and can be especially foul-smelling. An oily anal leakage or some level of fecal incontinence may occur. There is increased fat excretion, which can be measured by determining the fecal fat level. The definition of how much fecal fat constitutes steatorrhea has not been standardized. Causes Impaired digestion or absorption can result in fatty stools. Possible causes include exocrine pancreatic insufficiency, with poor digestion from lack of lipases, loss of bile salts, which reduces micelle formation, and small intestinal disease-producing malabsorption. Various other causes include certain medicines that block fat absorption or indigestible or excess oil/fat in diet. The absence of bile secretion can cause the feces to turn gray or pale. Bile is responsible for the brownish color of feces. Other features of fat malabsorption may also o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholestasis
Cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two basic distinctions are an obstructive type of cholestasis where there is a mechanical blockage in the duct system that can occur from a gallstone or malignancy, and metabolic types of cholestasis which are disturbances in bile formation that can occur because of genetic defects or acquired as a side effect of many medications. Classification is further divided into acute or chronic and extrahepatic or intrahepatic. Signs and symptoms The signs and symptoms of cholestasis vary according to the cause. In case of sudden onset, the disease is likely to be acute, while the gradual appearance of symptoms suggests chronic pathology. In many cases, patients may experience pain in the abdominal area. Localization of pain to the upper right quadrant can be indicative of cholecystitis or choledocholithiasis, which can progress to cholestasis. Pruritus or itching is often present in many patients with c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cachexia
Cachexia () is a complex syndrome associated with an underlying illness, causing ongoing muscle loss that is not entirely reversed with nutritional supplementation. A range of diseases can cause cachexia, most commonly cancer, congestive heart failure, chronic obstructive pulmonary disease, chronic kidney disease, and AIDS. Systemic inflammation from these conditions can cause detrimental changes to metabolism and body composition. In contrast to weight loss from inadequate caloric intake, cachexia causes mostly muscle loss instead of fat loss. Diagnosis of cachexia can be difficult due to the lack of well-established diagnostic criteria. Cachexia can improve with treatment of the underlying illness but other treatment approaches have limited benefit. Cachexia is associated with increased mortality and poor quality of life. The term is from Greek κακός ''kakos'', "bad", and ἕξις ''hexis'', "condition". Causes Cachexia can be caused by diverse medical conditions, but i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anemia
Anemia or anaemia (British English) is a blood disorder in which the blood has a reduced ability to carry oxygen due to a lower than normal number of red blood cells, or a reduction in the amount of hemoglobin. When anemia comes on slowly, the symptoms are often vague, such as tiredness, weakness, shortness of breath, headaches, and a reduced ability to exercise. When anemia is acute, symptoms may include confusion, feeling like one is going to pass out, loss of consciousness, and increased thirst. Anemia must be significant before a person becomes noticeably pale. Symptoms of anemia depend on how quickly hemoglobin decreases. Additional symptoms may occur depending on the underlying cause. Preoperative anemia can increase the risk of needing a blood transfusion following surgery. Anemia can be temporary or long term and can range from mild to severe. Anemia can be caused by blood loss, decreased red blood cell production, and increased red blood cell breakdown. Causes o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adrenal Gland
The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol. They are found above the kidneys. Each gland has an outer cortex which produces steroid hormones and an inner medulla. The adrenal cortex itself is divided into three main zones: the zona glomerulosa, the zona fasciculata and the zona reticularis. The adrenal cortex produces three main types of steroid hormones: mineralocorticoids, glucocorticoids, and androgens. Mineralocorticoids (such as aldosterone) produced in the zona glomerulosa help in the regulation of blood pressure and electrolyte balance. The glucocorticoids cortisol and cortisone are synthesized in the zona fasciculata; their functions include the regulation of metabolism and immune system suppression. The innermost layer of the cortex, the zona reticularis, produces androgens that are converted to fully functional sex hormones in the gonads ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calcification
Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue,Miller, J. D. Cardiovascular calcification: Orbicular origins. ''Nature Materials'' 12, 476-478 (2013). causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification. Calcification may also refer to the processes of normal mineral deposition in biological systems, such as the formation of stromatolites or mollusc shells (see Biomineralization). Signs and symptoms Calcification can manifest itself in many ways in the body depending on the location. In the pulpal structure of a tooth, calcification often presents asymptomatically, and is diagnosed as an incidental finding during radiographic interpretation. Individual teeth with calcified pulp will typically respond negatively to vitality testing; teeth with calcified pulp often lack sen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ultrasound
Ultrasound is sound waves with frequency, frequencies higher than the upper audible limit of human hearing range, hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies from person to person and is approximately 20 Hertz, kilohertz (20,000 hertz) in healthy young adults. Ultrasound devices operate with frequencies from 20 kHz up to several gigahertz. Ultrasound is used in many different fields. Ultrasonic devices are used to detect objects and measure distances. Ultrasound imaging or sonography is often used in medicine. In the nondestructive testing of products and structures, ultrasound is used to detect invisible flaws. Industrially, ultrasound is used for cleaning, mixing, and accelerating chemical processes. Animals such as bats and porpoises use ultrasound for locating Predation, prey and obstacles. History Acoustics, the science of sound, starts as far back as Pyth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jaundice
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. The prevalence of jaundice in adults is rare, while jaundice in babies is common, with an estimated 80% affected during their first week of life. The most commonly associated symptoms of jaundice are itchiness, pale feces, and dark urine. Normal levels of bilirubin in blood are below 1.0 mg/ dl (17 μmol/ L), while levels over 2–3 mg/dl (34–51 μmol/L) typically result in jaundice. High blood bilirubin is divided into two types – unconjugated and conjugated bilirubin. Causes of jaundice vary from relatively benign to potentially fatal. High unconjugated bilirubin may be due to excess red blood cell breakdown, large bruises, genetic conditions s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdominal Distension
Abdominal distension occurs when substances, such as air (gas) or fluid, accumulate in the abdomen causing its expansion. It is typically a symptom of an underlying disease or dysfunction in the body, rather than an illness in its own right. People with this condition often describe it as "feeling bloated". Affected people often experience a sensation of fullness, abdominal pressure, and sometimes nausea, pain, or cramping. In the most extreme cases, upward pressure on the diaphragm and lungs can also cause shortness of breath. Through a variety of causes (see below), bloating is most commonly due to buildup of gas in the stomach, small intestine, or colon. The pressure sensation is often relieved, or at least lessened, by belching or flatulence. Medications that settle gas in the stomach and intestines are also commonly used to treat the discomfort and lessen the abdominal distension. Causes One of the causes of abnormal bloating is excessive eating and air swallowing, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Japan
Japan ( ja, 日本, or , and formally , ''Nihonkoku'') is an island country in East Asia. It is situated in the northwest Pacific Ocean, and is bordered on the west by the Sea of Japan, while extending from the Sea of Okhotsk in the north toward the East China Sea, Philippine Sea, and Taiwan in the south. Japan is a part of the Ring of Fire, and spans Japanese archipelago, an archipelago of List of islands of Japan, 6852 islands covering ; the five main islands are Hokkaido, Honshu (the "mainland"), Shikoku, Kyushu, and Okinawa Island, Okinawa. Tokyo is the Capital of Japan, nation's capital and largest city, followed by Yokohama, Osaka, Nagoya, Sapporo, Fukuoka, Kobe, and Kyoto. Japan is the List of countries and dependencies by population, eleventh most populous country in the world, as well as one of the List of countries and dependencies by population density, most densely populated and Urbanization by country, urbanized. About three-fourths of Geography of Japan, the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
