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Jordans' Anomaly
Jordans' anomaly (also known as Jordan anomaly and Jordans bodies) is a familial abnormality of white blood cell morphology. Individuals with this condition exhibit persistent vacuolation of granulocytes and monocytes in the peripheral blood and bone marrow. Jordans' anomaly is associated with neutral lipid storage diseases. Genetics Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases. The anomaly is associated with mutations in the ''PNPLA2'' gene, which produces the enzyme adipose triglyceride lipase (ATGL), and the ''ABHD5'' gene, which encodes a cofactor of ATGL. These mutations lead to defective triglyceride breakdown and accumulation of lipid droplets in cells throughout the body. Histopathology The vacuoles of Jordans' anomaly contain neutral lipids that stain positive with Sudan staining techniques. History The anomaly was first described in 1953, by Dr. G. H. Jordans, who identified abnormal vacuolation in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chanarin-Dorfman Syndrome
Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordan’s Anomaly) muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling. It has been associated genetically with mutations in the ''CGI58 gene,'' (for NLSD-I), or the ''ATGL'' gene (for NLSD-M.) Cause Neutral lipid storage disease is caused by the abnormal and excessive accumulation of lipids in certain bodily tissues, including the liver, the heart, and muscle. Normally, these li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABHD5
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ''ABHD5'' gene. Function The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. Model organisms Model organisms have been used in the study of ABHD5 function. A conditional knockout mouse line, called ''Abhd5tm1a(KOMP)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientist ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histopathology
Histopathology (compound of three Greek words: ''histos'' "tissue", πάθος ''pathos'' "suffering", and -λογία '' -logia'' "study of") refers to the microscopic examination of tissue in order to study the manifestations of disease. Specifically, in clinical medicine, histopathology refers to the examination of a biopsy or surgical specimen by a pathologist, after the specimen has been processed and histological sections have been placed onto glass slides. In contrast, cytopathology examines free cells or tissue micro-fragments (as "cell blocks"). Collection of tissues Histopathological examination of tissues starts with surgery, biopsy, or autopsy. The tissue is removed from the body or plant, and then, often following expert dissection in the fresh state, placed in a fixative which stabilizes the tissues to prevent decay. The most common fixative is 10% neutral buffered formalin (corresponding to 3.7% w/v formaldehyde in neutral buffered water, such as phosphate buf ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hematopathology
Hematopathology or hemopathology (both also spelled haem-, see spelling differences) is the study of diseases and disorders affecting and found in blood cells, their production, and any organs and tissues involved in hematopoiesis, such as bone marrow, the spleen, and the thymus. Diagnoses and treatment of diseases such as leukemia and lymphoma often deal with hematopathology; techniques and technologies include flow cytometry studies and immunohistochemistry. In the United States, hematopathology is a board-certified subspecialty by the American Board of Pathology The American Board of Pathology (ABPath) is one of 24 member boards of the American Board of Medical Specialties. This organization was assembled in May 1936, under the approval of the Advisory Board for Medical Specialties (ABMS) and the American .... Board-eligible or board-certified hematopathologists are usually pathology residents (anatomic, clinical, or combined) who have completed hematopathology fellowship tra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutations
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ''ichthys'', literally "fish", since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the um ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipids
Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids include storing energy, signaling, and acting as structural components of cell membranes. Lipids have applications in the cosmetic and food industries, and in nanotechnology. Lipids may be broadly defined as hydrophobic or amphiphilic small molecules; the amphiphilic nature of some lipids allows them to form structures such as vesicles, multilamellar/unilamellar liposomes, or membranes in an aqueous environment. Biological lipids originate entirely or in part from two distinct types of biochemical subunits or "building-blocks": ketoacyl and isoprene groups. Using this approach, lipids may be divided into eight categories: fatty acyls, glycerolipids, glycerophospholipids, sphingolipids, saccharolipids, and polyketides (derived from condensati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Staining
Staining is a technique used to enhance contrast in samples, generally at the microscopic level. Stains and dyes are frequently used in histology (microscopic study of biological tissues), in cytology (microscopic study of cells), and in the medical fields of histopathology, hematology, and cytopathology that focus on the study and diagnoses of diseases at the microscopic level. Stains may be used to define biological tissues (highlighting, for example, muscle fibers or connective tissue), cell populations (classifying different blood cells), or organelles within individual cells. In biochemistry, it involves adding a class-specific ( DNA, proteins, lipids, carbohydrates) dye to a substrate to qualify or quantify the presence of a specific compound. Staining and fluorescent tagging can serve similar purposes. Biological staining is also used to mark cells in flow cytometry, and to flag proteins or nucleic acids in gel electrophoresis. Light microscopes are used for viewin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Muscular Dystrophy
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.update 2012 Signs and symptoms Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as ''hypotonia'', or lack of muscle tone, which can make an infant seem unstable. Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the rarer forms of CMD can result in significant learning disabilities. Genetics Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sudan Stain
Sudan ( or ; ar, السودان, as-Sūdān, officially the Republic of the Sudan ( ar, جمهورية السودان, link=no, Jumhūriyyat as-Sūdān), is a country in Northeast Africa. It shares borders with the Central African Republic to the southwest, Chad to the west, Egypt to the north, Eritrea to the northeast, Ethiopia to the southeast, Libya to the northwest, South Sudan to the south and the Red Sea. It has a population of 45.70 million people as of 2022 and occupies 1,886,068 square kilometres (728,215 square miles), making it Africa's third-largest country by area, and the third-largest by area in the Arab League. It was the largest country by area in Africa and the Arab League until the secession of South Sudan in 2011, since which both titles have been held by Algeria. Its capital is Khartoum and its most populated city is Omdurman (part of the metropolitan area of Khartoum). Sudan's history goes back to the Pharaonic period, witnessing the Kingdom of K ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Triglyceride
A triglyceride (TG, triacylglycerol, TAG, or triacylglyceride) is an ester derived from glycerol and three fatty acids (from ''tri-'' and ''glyceride''). Triglycerides are the main constituents of body fat in humans and other vertebrates, as well as vegetable fat. They are also present in the blood to enable the bidirectional transference of adipose fat and blood glucose from the liver, and are a major component of human skin oils. Many types of triglycerides exist. One specific classification focuses on saturated and unsaturated types. Saturated fats have ''no'' C=C groups; unsaturated fats feature one or more C=C groups. Unsaturated fats tend to have a lower melting point than saturated analogues; as a result, they are often liquid at room temperature. Chemical structure Triglycerides are tri-esters consisting of a glycerol bound to three fatty acid molecules. Alcohols have a hydroxyl (HO–) group. Organic acids have a carboxyl (–COOH) group. Alcohols and organ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adipose Triglyceride Lipase
Adipose triglyceride lipase, also known as patatin-like phospholipase domain-containing protein 2 and ATGL, is an enzyme that in humans is encoded by the ''PNPLA2'' gene. ATGL catalyses the first reaction of lipolysis, where triacylglycerols are hydrolysed to diacylglycerols. Properties ATGL has very high substrate specificity for triacylglycerols. It contains a catalytic dyad using serine- aspartic acid. Function ATGL catalyses the first reaction of lipolysis. It hydrolysis triacylglycerols to diacylglycerols by attacking the fatty acid attached to carbon-3 of glycerol. ATGL acts as a control mechanism of lipolysis, as variations in diacylglycerol concentration impact enzymes in later stages of lipolysis. Clinical significance Defects in ATGL can cause problems in lipolysis, leading to neutral lipid storage disease Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
