Focal Segmental Glomerulosclerosis
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Focal Segmental Glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is a histopathologic finding of scarring (sclerosis) of glomeruli and damage to renal podocytes. This process damages the filtration function of the kidney, resulting in protein presence in the urine due to protein loss. FSGS is a leading cause of excess protein loss—nephrotic syndrome—in children and adults in the US. Signs and symptoms include proteinuria and edema. Kidney failure is a common long-term complication of the disease. FSGS can be classified as primary, secondary, or genetic, depending on whether a particular toxic or pathologic stressor or genetic predisposition can be identified as the cause. Diagnosis is established by renal biopsy, and treatment consists of glucocorticoids and other immune-modulatory drugs. Response to therapy is variable, with a significant portion of patients progressing to end-stage kidney failure. An American epidemiological study 20 years ago demonstrated that FSGS is estimated to occur in 7 pe ...
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Micrograph
A micrograph is an image, captured photographically or digitally, taken through a microscope or similar device to show a magnify, magnified image of an object. This is opposed to a macrograph or photomacrograph, an image which is also taken on a microscope but is only slightly magnified, usually less than 10 times. Micrography is the practice or art of using microscopes to make photographs. A photographic micrograph is a photomicrograph, and one taken with an electron microscope is an electron micrograph. A micrograph contains extensive details of microstructure. A wealth of information can be obtained from a simple micrograph like behavior of the material under different conditions, the phases found in the system, failure analysis, grain size estimation, elemental analysis and so on. Micrographs are widely used in all fields of microscopy. Types Photomicrograph A light micrograph or photomicrograph is a micrograph prepared using an optical microscope, a process referred to ...
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Oncotic Pressure
Oncotic pressure, or colloid osmotic-pressure, is a type of osmotic pressure induced by the plasma proteins, notably albumin, in a blood vessel's plasma (or any other body fluid such as blood and lymph) that causes a pull on fluid back into the capillary. It has an effect opposing both the hydrostatic blood pressure, which pushes water and small molecules out of the blood into the interstitial spaces at the arterial end of capillaries, and the interstitial colloidal osmotic pressure. These interacting factors determine the partitioning of extracellular water between the blood plasma and the extravascular space. Oncotic pressure strongly affects the physiological function of the circulatory system. It is suspected to have a major effect on the pressure across the glomerular filter. However, this concept has been strongly criticised and attention has shifted to the impact of the intravascular glycocalyx layer as the major player. Etymology The word 'oncotic' by definiti ...
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Glomeruli
''Glomerulus'' (; : glomeruli) is a common term used in anatomy to describe globular structures of entwined vessels, fibers, or neurons. ''Glomerulus'' is the diminutive of the Latin ''glomus'', meaning "ball of yarn". ''Glomerulus'' may refer to: * Glomerulus (kidney), the filtering unit of the kidney * Glomerulus (olfaction), a structure in the olfactory bulb * Glomerulus (cerebellum), the contact between specific cells in the cerebellum The cerebellum (: cerebella or cerebellums; Latin for 'little brain') is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as it or eve ... See also * Glomerulation, a hemorrhage of the bladder {{SIA ...
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Renal Biopsy
Renal biopsy (also kidney biopsy) is a medical procedure in which a small piece of kidney is removed from the body for examination, usually under a microscope. Microscopic examination of the tissue can provide information needed to diagnose, monitor or treat problems of the kidney. A renal biopsy can be targeted to a particular lesion, for example a tumour arising from the kidney (targeted renal biopsy). More commonly, however, the biopsy is non-targeted as medical conditions affecting the kidney typically involve all kidney tissue indiscriminately. In the latter situation, any sufficiently sized piece of kidney tissue can be used. A native renal biopsy is one in which the patient's own kidneys are biopsied. In a transplant renal biopsy, the kidney of another person that has been transplanted into the patient is biopsied. Transplant kidney biopsy can be performed when nothing is apparently wrong with the transplant kidney for the purposes of surveillance for hidden disease (prot ...
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Gain Of Function Mutation
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 substitution, 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 ...
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APOL1
Apolipoprotein L1 is a protein that in humans is encoded by the ''APOL1'' gene. Two transcript variants encoding two different isoforms have been found for this gene. Species distribution This gene is found only in humans, African green monkeys, and gorillas. Structure The gene that encodes the APOL1 protein is 14,522 base pairs long and found on the human chromosome 22, on the long arm at position 13.1 from base pair 36,253,070 to base pair 36,267,530. The protein is a 398 amino acid protein. It consists of 5 functional domains: * S domain-secretory signal * MAD (membrane-addressing domain)-ph sensor and regulator of cell death * BH3 domain - associated with programmed cell death * PFD (pore forming domain) * SRA (serum resistance-associated binding domain)- confers resistance to ''Trypanosoma brucei'' Mutations Two coding variants, G1 and G2, have been recently identified with relevance to human phenotypes. The G1 is a pair of two non-synonymous single nucleotide po ...
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Formins
Formins (formin homology proteins) are a group of proteins that are involved in the polymerization of actin and associate with the fast-growing end (barbed end) of actin filaments. Most formins are Rho-GTPase effector proteins. Formins regulate the actin and microtubule cytoskeleton and are involved in various cellular functions such as cell polarity, cytokinesis, cell migration and SRF transcriptional activity. Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins, although some formins have been assigned functions within the nucleus. Diversity Formins have been found in all eukaryotes studied. In humans, 15 different formin proteins are present that have been classified in 7 subgroups. By contrast, yeasts contain only 2-3 formins. Structure and interactions Formins are characterized by the presence of three formin homology (FH) domains (FH1, FH2 and FH3), although members of the formin family do not neces ...
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Podocin
Podocin is a protein component of the filtration slits of podocytes. Glomerulus (kidney), Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney Glomerulus (kidney), glomerulus. Mutations in the podocin gene ''NPHS2'' can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood. Structure Podocin is a membrane protein of the Stomatin, band-7-stomatin Protein family, family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor. Function Podocin is localized on the membranes of podocyte foot processes (pedicels) where it oligomerizes in lipid rafts ...
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Nephrin
Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm. It is present on the tips of the podocytes as an intricate mesh connecting adjacent foot processes. Nephrin contributes to the strong size selectivity of the slit diaphragm, however, the relative contribution of the slit diaphragm to exclusion of protein by the glomerulus is debated. The extracellular interactions, both homophilic and heterophilic—between nephrin and NEPH1—are not completely understood. In addition to eight immunoglobulin G–like motifs and a fibronectin type 3 repeat, nephrin has a single transmembrane domain and a short intracellular tail. Tyrosine phosphorylation at different sites on the intracellular tail contribute to the regul ...
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Glomerulosclerosis
Glomerulosclerosis is the hardening of the glomeruli in the kidney. It is a general term to describe scarring of the kidneys' tiny blood vessels, the glomeruli, the functional units in the kidney that filter urea from the blood. Proteinuria (large amounts of protein in the urine) is one of the signs of glomerulosclerosis. Scarring disturbs the filtering process of the kidneys and allows protein to leak from the blood into the urine. However, glomerulosclerosis is one of many causes of proteinuria. A kidney biopsy (the removal of a tiny part of the kidney with a needle) may be necessary to determine whether a patient has glomerulosclerosis or another kidney problem. About 15 percent of people with proteinuria turn out to have glomerulosclerosis. Both children and adults can develop glomerulosclerosis, which can result in different types of kidney conditions. One frequently encountered type of glomerulosclerosis is caused by diabetes. Drug use or infections may cause focal segmenta ...
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Nanometre
330px, Different lengths as in respect to the Molecule">molecular scale. The nanometre (international spelling as used by the International Bureau of Weights and Measures; SI symbol: nm), or nanometer (American spelling), is a unit of length in the International System of Units (SI), equal to one billionth ( short scale) or one thousand million (long scale) of a meter (0.000000001 m) and to 1000  picometres. One nanometre can be expressed in scientific notation as 1 × 10−9 m and as  m. History The nanometre was formerly known as the "''millimicrometre''" – or, more commonly, the "''millimicron''" for short – since it is of a micrometer. It was often denoted by the symbol ''mμ'' or, more rarely, as ''μμ'' (however, ''μμ'' should refer to a ''millionth'' of a micron). Etymology The name combines the SI prefix '' nano-'' (from the Ancient Greek , ', "dwarf") with the parent unit name ''metre'' (from Greek , ', "unit of measurement"). ...
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