|
Cholesterol Esterification Disorder
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active 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 who 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 several body organs, including the liver, spleen, gut, the wall of blood vessels, and other important organs. The classic presentation is vomiting and failure to thrive or failure to gain weight in a newborn, with chalky bilateral adrenal calcifications on imaging, with life expectancy rarely exceeding a year. 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 g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics 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 specia ... [...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. 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 '' FascioIa'', mostly '' FascioIa hepatica''. * Hepatitis, inflammation of the liver, is caused by various viruses ( viral hepatitis) also by some liver toxins (e.g. alcoholic hepatitis), autoimmunity (autoimmune hepatitis) or hereditary conditions. * Alcoholic liver disease is a hepati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steatorrhea
Steatorrhea (or steatorrhoea) is the presence of excess fat in Human feces, 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. 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. In addition to this, bile also plays a role in fat absorption, where dietary lipids are combined so that pancreatic lipa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholestasis
Cholestasis is a condition where the flow of bile from the liver to the duodenum is impaired. The two basic distinctions are: * obstructive type of cholestasis, where there is a mechanical blockage in the duct system that can occur from a gallstone or malignancy, and * metabolic type of cholestasis, in which there 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 pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cachexia
Cachexia () is a syndrome that happens when people have certain illnesses, causing muscle loss that cannot be fully reversed with improved nutrition. It is most common in diseases like cancer, Heart failure, congestive heart failure, chronic obstructive pulmonary disease, chronic kidney disease, and AIDS. These conditions change how the body handles inflammation, metabolism, and brain signaling, leading to muscle loss and other harmful changes to body composition over time. Unlike weight loss from not eating enough, cachexia mainly affects muscle and can happen with or without fat loss. Diagnosis of cachexia is difficult because there are no clear guidelines, and its occurrence varies from one affected person to the next. Like malnutrition, cachexia can lead to worse health outcomes and lower quality of life. Definition Cachexia is hard to define because it often happens alongside malnutrition and sarcopenia. Since there are no clear rules separating these conditions, experts ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anemia
Anemia (also spelt anaemia in British English) is a blood disorder in which the blood has a reduced ability to carry oxygen. This can be due to a lower than normal number of red blood cells, a reduction in the amount of hemoglobin available for oxygen transport, or abnormalities in hemoglobin that impair its function. The name is derived . When anemia comes on slowly, the symptoms are often vague, such as Fatigue, tiredness, weakness, shortness of breath, headaches, and a Exercise intolerance, reduced ability to exercise. When anemia is acute, symptoms may include confusion, lightheadedness, feeling like one is going to pass out, Syncope (medicine), loss of consciousness, and polydipsia, increased thirst. Anemia must be significant before a person becomes noticeably Pallor, pale. Additional symptoms may occur depending on the underlying cause. Anemia can be temporary or long term and can range from mild to severe. Anemia can be caused by blood loss, decreased red blood cel ... [...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 adrenal cortex, cortex which produces steroid hormones and an inner Adrenal medulla, 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 osmoregulation, 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 ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ultrasound
Ultrasound is sound with frequency, frequencies greater than 20 Hertz, kilohertz. This frequency is the approximate upper audible hearing range, limit of human hearing in healthy young adults. The physical principles of acoustic waves apply to any frequency range, including ultrasound. Ultrasonic 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 prey and obstacles. History Acoustics, the science of sound, starts as far back as Pythagoras in the 6th century BC, who wrote on the mathematical properties of String instrument ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jaundice
Jaundice, also known as icterus, is a yellowish or, less frequently, 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, gen ... [...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 a build up 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 is an island country in East Asia. Located in the Pacific Ocean off the northeast coast of the Asia, Asian mainland, it is bordered on the west by the Sea of Japan and extends from the Sea of Okhotsk in the north to the East China Sea in the south. The Japanese archipelago consists of four major islands—Hokkaido, Honshu, Shikoku, and Kyushu—and List of islands of Japan, thousands of smaller islands, covering . Japan has a population of over 123 million as of 2025, making it the List of countries and dependencies by population, eleventh-most populous country. The capital of Japan and List of cities in Japan, its largest city is Tokyo; the Greater Tokyo Area is the List of largest cities, largest metropolitan area in the world, with more than 37 million inhabitants as of 2024. Japan is divided into 47 Prefectures of Japan, administrative prefectures and List of regions of Japan, eight traditional regions. About three-quarters of Geography of Japan, the countr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
