A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors.
Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).
A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis.
A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder.
Heterotrimeric GTP-binding protein subunits that tightly associate with GTP-BINDING PROTEIN BETA SUBUNITS. A dimer of beta and gamma subunits is formed when the GTP-BINDING PROTEIN ALPHA SUBUNIT dissociates from the GTP-binding protein heterotrimeric complex. The beta-gamma dimer can play an important role in signal transduction by interacting with a variety of second messengers.
An enzyme that catalyzes the acyl group transfer of ACYL COA to 1-acyl-sn-glycerol 3-phosphate to generate 1,2-diacyl-sn-glycerol 3-phosphate. This enzyme has alpha, beta, gamma, delta and epsilon subunits.
A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Drug regimens, for patients with HIV INFECTIONS, that aggressively suppress HIV replication. The regimens usually involve administration of three or more different drugs including a protease inhibitor.
Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.
A dideoxynucleoside analog that inhibits reverse transcriptase and has in vitro activity against HIV.
Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
Nuclear matrix proteins that are structural components of the NUCLEAR LAMINA. They are found in most multicellular organisms.
An IgG autoantibody against the ALTERNATIVE PATHWAY C3 CONVERTASE, found in serum of patients with MESANGIOCAPILLARY GLOMERULONEPHRITIS. The binding of this autoantibody to C3bBb stabilizes the enzyme thus reduces the actions of C3b inactivators (COMPLEMENT FACTOR H; COMPLEMENT FACTOR I). This abnormally stabilized enzyme induces a continuous COMPLEMENT ACTIVATION and generation of C3b thereby promoting the assembly of MEMBRANE ATTACK COMPLEX and cytolysis.
Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
A 16-kDa peptide hormone secreted from WHITE ADIPOCYTES. Leptin serves as a feedback signal from fat cells to the CENTRAL NERVOUS SYSTEM in regulation of food intake, energy balance, and fat storage.
A condition of elevated levels of TRIGLYCERIDES in the blood.
General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules.
The relative amounts of various components in the body, such as percentage of body fat.
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
Inhibitors of HIV PROTEASE, an enzyme required for production of proteins needed for viral assembly.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
A phosphomonoesterase involved in the synthesis of triacylglycerols. It catalyzes the hydrolysis of phosphatidates with the formation of diacylglycerols and orthophosphate. EC 3.1.3.4.
Agents used to treat AIDS and/or stop the spread of the HIV infection. These do not include drugs used to treat symptoms or opportunistic infections associated with AIDS.
A nuclear transcription factor. Heterodimerization with RETINOID X RECEPTOR ALPHA is important in regulation of GLUCOSE metabolism and CELL GROWTH PROCESSES. It is a target of THIAZOLIDINEDIONES for control of DIABETES MELLITUS.
Cells in the body that store FATS, usually in the form of TRIGLYCERIDES. WHITE ADIPOCYTES are the predominant type and found mostly in the abdominal cavity and subcutaneous tissue. BROWN ADIPOCYTES are thermogenic cells that can be found in newborns of some species and hibernating mammals.
The differentiation of pre-adipocytes into mature ADIPOCYTES.
A sultanate on the southeast coast of the Arabian peninsula. Its capital is Masqat. Before the 16th century it was ruled by independent emirs but was captured and controlled by the Portuguese 1508-1648. In 1741 it was recovered by a descendent of Yemen's imam. After its decline in the 19th century, it became virtually a political and economic dependency within the British Government of India, retaining close ties with Great Britain by treaty from 1939 to 1970 when it achieved autonomy. The name was recorded by Pliny in the 1st century A.D. as Omana, said to be derived from the founder of the state, Oman ben Ibrahim al-Khalil. (From Webster's New Geographical Dictionary, 1988, p890; Oman Embassy, Washington; Room, Brewer's Dictionary of Names, 1992, p391)
Fatty tissue under the SKIN through out the body.
Abnormally infrequent menstruation.
Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A plant genus of the family ARECACEAE. It is a tropical palm tree that yields a large, edible hard-shelled fruit from which oil and fiber are also obtained.
Loose connective tissue lying under the DERMIS, which binds SKIN loosely to subjacent tissues. It may contain a pad of ADIPOCYTES, which vary in number according to the area of the body and vary in size according to the nutritional state.
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
A voltage-gated potassium channel that is expressed primarily in the HEART.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
A family of voltage-gated potassium channels that are characterized by long N-terminal and C-terminal intracellular tails. They are named from the Drosophila protein whose mutation causes abnormal leg shaking under ether anesthesia. Their activation kinetics are dependent on extracellular MAGNESIUM and PROTON concentration.
A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.

Long-term effects of recombinant human insulin-like growth factor I treatment on glucose and lipid metabolism and the growth of a patient with congenital generalized lipodystrophy. (1/37)

Congenital generalized lipodystrophy (CGL) is a disease characterized by generalized lack of body fat, insulin resistance, hypertriglyceridemia, and fatty liver. We studied the long-term effects of recombinant human insulin-like growth factor I (rhIGF-I) treatment on glucose and lipid metabolism and the growth in a patient with CGL. During rhIGF-I treatment, the serum triglyceride level was maintained almost within the normal range, and the plasma glycosylated hemoglobin A1c (HbA1c) levels were maintained under 8.0% (5.8%-7.9%). Thus, rhIGF-I treatment was effective in lowering glucose and triglyceride levels over the long-term in a CGL patient. However, it was difficult to suppress the patient's voracious appetite. Although serum total IGF-I levels were extremely high (1000-1700 ng/ml), growth was not accelerated after the start of rhIGF-I treatment, likely because of normal IGF binding protein 3 (IGFBP-3) levels. During rhIGF-I treatment, the patient developed a recurrence of mild hypertrophic cardiomyopathy and a mild elevation of intraocular pressure.  (+info)

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism. (2/37)

The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic depots and ectopic sites such as liver and muscle. Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL). The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B. An unresolved question is whether metabolic disturbances are secondary to adipose repartitioning or result from a direct effect of the mutant gene product. Careful analysis of clinical, biochemical, and imaging phenotypes, using an approach called "phenomics," reveals differences between genetically stratified subtypes that can be used to guide basic experiments and to improve our understanding of common clinical entities, such as metabolic syndrome or the partial lipodystrophy syndrome associated with human immunodeficiency virus infection.  (+info)

Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. (3/37)

OBJECTIVE: Berardinelli-Seip syndrome is a rare congenital lipoatrophy with a severe prognosis and no efficient therapy. Children present with low leptin levels and severe metabolic complications (insulin resistance, elevated triglyceride levels, and hepatic steatosis). The objective of this study was to test safety and efficacy of recombinant-methionyl-human leptin replacement in children with Berardinelli-Seip syndrome before development of severe metabolic disease METHODS: As part of an open trial, recombinant-methionyl-human leptin was given daily for 4 months to children who did not have diabetes and had Berardinelli-Seip congenital lipoatrophy and metabolic complications at a dosage that was meant to achieve physiologic levels. Six boys and 1 girl (age: 2.4-13.6 years), with a mean fasting insulin level of >15 mIU/L and hypertriglyceridemia, were included. RESULTS: At the end of the recombinant-methionyl-human leptin treatment, a 63% reduction of fasting triglycerides level was achieved. A simultaneous 30% increase in insulin sensitivity was seen, and liver volume was reduced by 20.3%. More remarkable, values of insulin sensitivity and triglyceride level were in the reference range in 4 patients. CONCLUSIONS: Leptin replacement is able to reverse metabolic complications in the majority of children with Berardinelli-Seip congenital lipoatrophy and with insulin resistance or dyslipidemia before the development of overt diabetes.  (+info)

Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (4/37)

CONTEXT: Congenital generalized lipodystrophy (CGL) is a rare and heterogeneous disease of autosomal recessive inheritance. Until now, no genetic findings had been reported in Chinese patients with CGL. OBJECTIVE: To analyze Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) and 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene variation in a Chinese boy with CGL and his family. DESIGN, SETTING, AND PARTICIPANTS: All exons of BSCL2 and AGPAT2 with adjacent intron-exon junctions were analyzed using direct sequencing. MAIN OUTCOME MEASURES: Sequences of each exon and nearby intron of the BSCL2 and AGPAT2 genes of the family members were compared with the gene bank genomic sequences. RESULTS: DNA sequence analysis of the entire coding regions and surrounding uncoding regions disclosed a novel homozygous G-->T mutation at nucleotide 909 in exon 5 of the BSCL2 gene in the affected child. A heterozygous state of the G-->T mutation of the BSCL2 gene was also found in other family members. This mutation predicts the substitution of glutamic acid at codon 189 by the stop codon (Glu189X or E189X). No variation was found in the AGPAT2 gene. Conclusion E189X is a novel BSCL2 gene mutation that contributes to CGL formation in a family of Chinese origin.  (+info)

Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (5/37)

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is a very rare hereditary syndrome that is characterized by an almost complete absence of adipose tissue from birth. Cardiac involvement seems to have substantial influence in the long-term prognosis. Herein, we report an apparently unique case of congenital generalized lipodystrophy with cardiac sequelae. A 17-year-old woman, diagnosed in childhood with Berardinelli-Seip syndrome, presented with severe epigastric pain that was secondary to previous myocardial infarction. The patient had ischemia, dilated cardiomyopathy, and congestive heart failure, but no coronary artery disease. She was discharged from the hospital in stable condition after 3 days of medical treatment. To our knowledge, this is the 1st reported case of congenital generalized lipodystrophy with dilated cardiomyopathy, congestive heart failure, severe mitral regurgitation, and inferior myocardial infarction as cardiac sequelae of this syndrome--but without evidence of coronary artery disease or cardiac hypertrophy. In addition to discussing this patient's case, we present diagnostic and therapeutic approaches to Berardinelli-Seip syndrome.  (+info)

Energy balance in congenital generalized lipodystrophy type I. (6/37)

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Effect of depot medroxyprogesterone acetate on glucose tolerance in generalized lipodystrophy. (7/37)

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Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (8/37)

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Lipodystrophy is a medical condition characterized by abnormal distribution or absence of fat (adipose tissue) in the body. It can lead to metabolic complications such as insulin resistance, diabetes mellitus, high levels of fats in the blood (dyslipidemia), and liver disease. There are different types of lipodystrophy, including congenital generalized lipodystrophy, acquired generalized lipodystrophy, and partial lipodystrophy, which can affect different parts of the body and have varying symptoms and causes.

Congenital Generalized Lipodystrophy (CGL) is a rare genetic disorder characterized by the near or complete absence of body fat at birth or in early childhood. It is also known as Berardinelli-Seip congenital lipodystrophy. The condition is caused by mutations in genes responsible for the development and function of adipose tissue (fat).

Individuals with CGL typically have a lack of subcutaneous fat, which gives them a muscular appearance, but they may have excess fat accumulation in other areas such as the neck, face, and liver. This can lead to various metabolic complications, including insulin resistance, diabetes mellitus, hypertriglyceridemia (high levels of triglycerides in the blood), and hepatic steatosis (fatty liver disease).

CGL is a genetic disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The diagnosis of CGL is typically based on clinical features and confirmed by genetic testing. Treatment for CGL focuses on managing the metabolic complications associated with the disorder.

HIV-Associated Lipodystrophy Syndrome is a term used to describe a range of body shape changes and metabolic abnormalities that can occur in some individuals receiving long-term combination antiretroviral therapy (cART) for HIV infection. The syndrome is characterized by the abnormal distribution of fat, including:

1. Lipoatrophy: Loss of subcutaneous fat from the face, limbs, and buttocks, leading to a gaunt appearance.
2. Lipohypertrophy: Accumulation of fat in the abdomen, breasts, and dorsocervical region (buffalo hump), resulting in an altered body shape.
3. Metabolic abnormalities: Insulin resistance, hyperlipidemia, and lactic acidosis, which can increase the risk of developing cardiovascular disease and diabetes mellitus.

The exact pathogenesis of HIV-Associated Lipodystrophy Syndrome is not fully understood, but it is believed to be related to a combination of factors, including the direct effects of HIV infection on adipose tissue, mitochondrial toxicity caused by certain antiretroviral medications, and chronic inflammation. The syndrome can have significant psychological and social consequences for affected individuals, and management typically involves a multidisciplinary approach that includes switching to alternative antiretroviral regimens, addressing metabolic abnormalities, and providing cosmetic interventions as needed.

Familial Partial Lipodystrophy (FPL) is a rare genetic disorder characterized by the selective loss of fat tissue in various parts of the body. It is caused by mutations in specific genes involved in the regulation of fat metabolism. There are several types of FPL, but the most common one is called Dunnigan-type or FPLD2, which is caused by mutations in the LMNA gene.

In FPL, there is a lack of subcutaneous fat (the fat layer beneath the skin) in certain areas of the body, such as the face, arms, legs, and buttocks, while other areas may have excess fat accumulation, such as the neck, shoulders, and abdomen. This abnormal distribution of fat can lead to a variety of metabolic complications, including insulin resistance, diabetes mellitus, high levels of triglycerides in the blood (hypertriglyceridemia), and an increased risk of cardiovascular disease.

FPL is usually inherited as an autosomal dominant trait, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases may occur spontaneously due to new mutations in the gene. The diagnosis of FPL is typically based on clinical examination, family history, and genetic testing. Treatment usually involves lifestyle modifications, such as diet and exercise, and medications to manage metabolic complications.

Diabetes Mellitus, Lipoatrophic is not a recognized medical term or official classification for diabetes. However, Lipodystrophy is a condition that can occur in some people with diabetes, particularly those being treated with insulin. Lipodystrophy refers to the loss of fat tissue, which can cause changes in the way the body responds to insulin and lead to difficulties controlling blood sugar levels. There are different types of lipodystrophy, including localized lipoatrophy (small areas of fat loss) and generalized lipodystrophy (widespread fat loss).

In people with Diabetes Mellitus, Lipodystrophy can lead to an increased need for insulin, as well as other metabolic complications. It is important for individuals with diabetes who notice changes in their body's response to insulin or unusual fat distribution to consult with their healthcare provider for further evaluation and management.

Lamin Type A, also known as LMNA, is a gene that provides instructions for making proteins called lamins. These proteins are part of the nuclear lamina, a network of fibers that lies just inside the nuclear envelope, which is the membrane that surrounds the cell's nucleus. The nuclear lamina helps maintain the shape and stability of the nucleus and plays a role in regulating gene expression and DNA replication.

Mutations in the LMNA gene can lead to various diseases collectively known as laminopathies, which affect different tissues and organs in the body. These conditions include Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, and a type of premature aging disorder called Hutchinson-Gilford progeria syndrome. The specific symptoms and severity of these disorders depend on the particular LMNA mutation and the tissues affected.

Acanthosis nigricans is a medical condition characterized by the darkening and thickening of the skin in certain areas of the body. These areas typically include the back of the neck, armpits, groin, and skin folds. The skin becomes velvety to touch, and may have a "dirty" appearance.

The condition is often associated with insulin resistance, which can be a sign of type 2 diabetes or prediabetes. It can also be linked to obesity, hormonal imbalances, certain medications, and some rare genetic syndromes.

In addition to the changes in skin color and texture, people with acanthosis nigricans may also experience itching, odor, or discomfort in the affected areas. Treatment typically involves addressing the underlying cause of the condition, such as managing diabetes or losing weight. Topical treatments may also be used to improve the appearance of the skin.

GTP-binding protein (G protein) gamma subunits are a type of regulatory protein that bind to and hydrolyze guanosine triphosphate (GTP). They are a component of heterotrimeric G proteins, which are composed of alpha, beta, and gamma subunits. The gamma subunit is tightly associated with the beta subunit and together they form a stable complex called the beta-gamma dimer.

When a G protein-coupled receptor (GPCR) is activated by an agonist, it causes a conformational change in the associated G protein, allowing the alpha subunit to exchange GDP for GTP. This leads to the dissociation of the alpha subunit from the beta-gamma dimer. Both the alpha and beta-gamma subunits can then go on to activate downstream effectors, leading to a variety of cellular responses.

The gamma subunit plays a role in regulating the activity of various signaling pathways, including those involved in vision, neurotransmission, and immune function. Mutations in genes encoding gamma subunits have been associated with several human diseases, including forms of retinal degeneration and neurological disorders.

1-Acylglycerol-3-Phosphate O-Acyltransferase is an enzyme that catalyzes the reaction of forming diacylglycerol phosphate (also known as phosphatidic acid) from 1-acylglycerol-3-phosphate and acyl-CoA. This enzyme plays a crucial role in the biosynthesis of glycerophospholipids, which are major components of biological membranes. The systematic name for this enzyme is 1-acylglycerol-3-phosphate O-acyltransferase; alternatively, it may also be referred to as lysophosphatidic acid acyltransferase or LPAAT.

Acro-osteolysis is a medical condition that refers to the progressive degeneration or dissolution of the bones, particularly affecting the distal portions of fingers and toes. This process results in shortening and deformity of the affected digits. The condition can be associated with various systemic diseases, such as scleroderma, Raynaud's phenomenon, and hyperparathyroidism, or it can be caused by exposure to certain chemicals. Acro-osteolysis is a progressive disorder, and its severity may vary depending on the underlying cause.

Antiretroviral Therapy, Highly Active (HAART) is a medical treatment regimen used to manage HIV infection. It involves the combination of three or more antiretroviral drugs from at least two different classes, aiming to maximally suppress viral replication and prevent the development of drug resistance. The goal of HAART is to reduce the amount of HIV in the body to undetectable levels, preserve immune function, and improve quality of life for people living with HIV. Commonly used antiretroviral classes include nucleoside/nucleotide reverse transcriptase inhibitors (NRTIs), non-nucleoside reverse transcriptase inhibitors (NNRTIs), protease inhibitors (PIs), integrase strand transfer inhibitors (INSTIs), and fusion inhibitors.

Adipose tissue, also known as fatty tissue, is a type of connective tissue that is composed mainly of adipocytes (fat cells). It is found throughout the body, but is particularly abundant in the abdominal cavity, beneath the skin, and around organs such as the heart and kidneys.

Adipose tissue serves several important functions in the body. One of its primary roles is to store energy in the form of fat, which can be mobilized and used as an energy source during periods of fasting or exercise. Adipose tissue also provides insulation and cushioning for the body, and produces hormones that help regulate metabolism, appetite, and reproductive function.

There are two main types of adipose tissue: white adipose tissue (WAT) and brown adipose tissue (BAT). WAT is the more common form and is responsible for storing energy as fat. BAT, on the other hand, contains a higher number of mitochondria and is involved in heat production and energy expenditure.

Excessive accumulation of adipose tissue can lead to obesity, which is associated with an increased risk of various health problems such as diabetes, heart disease, and certain types of cancer.

Stavudine is an antiviral medication used to treat HIV (human immunodeficiency virus) infections. It works by blocking the action of reverse transcriptase, an enzyme that the virus needs to multiply. By preventing the multiplication of the virus, Stavudine helps reduce the amount of HIV in the body and slows down the progression of the disease.

Stavudine is often prescribed in combination with other antiretroviral drugs as part of a highly active antiretroviral therapy (HAART) regimen. It is available in oral form, typically taken twice daily, and is usually prescribed at a dose of 40 milligrams per dose for adults.

It's important to note that Stavudine can cause serious side effects, including peripheral neuropathy (nerve damage that causes pain, numbness, or tingling in the hands and feet), pancreatitis (inflammation of the pancreas), and lipoatrophy (loss of fat tissue under the skin). As a result, it is generally only prescribed when other antiretroviral drugs are not effective or tolerated.

If you have any questions about Stavudine or your HIV treatment regimen, be sure to talk with your healthcare provider.

HIV (Human Immunodeficiency Virus) infection is a viral illness that progressively attacks and weakens the immune system, making individuals more susceptible to other infections and diseases. The virus primarily infects CD4+ T cells, a type of white blood cell essential for fighting off infections. Over time, as the number of these immune cells declines, the body becomes increasingly vulnerable to opportunistic infections and cancers.

HIV infection has three stages:

1. Acute HIV infection: This is the initial stage that occurs within 2-4 weeks after exposure to the virus. During this period, individuals may experience flu-like symptoms such as fever, fatigue, rash, swollen glands, and muscle aches. The virus replicates rapidly, and the viral load in the body is very high.
2. Chronic HIV infection (Clinical latency): This stage follows the acute infection and can last several years if left untreated. Although individuals may not show any symptoms during this phase, the virus continues to replicate at low levels, and the immune system gradually weakens. The viral load remains relatively stable, but the number of CD4+ T cells declines over time.
3. AIDS (Acquired Immunodeficiency Syndrome): This is the most advanced stage of HIV infection, characterized by a severely damaged immune system and numerous opportunistic infections or cancers. At this stage, the CD4+ T cell count drops below 200 cells/mm3 of blood.

It's important to note that with proper antiretroviral therapy (ART), individuals with HIV infection can effectively manage the virus, maintain a healthy immune system, and significantly reduce the risk of transmission to others. Early diagnosis and treatment are crucial for improving long-term health outcomes and reducing the spread of HIV.

Insulin resistance is a condition in which the body's cells become less responsive to insulin, a hormone produced by the pancreas that regulates blood sugar levels. In response to this decreased sensitivity, the pancreas produces more insulin to help glucose enter the cells. However, over time, the pancreas may not be able to keep up with the increased demand for insulin, leading to high levels of glucose in the blood and potentially resulting in type 2 diabetes, prediabetes, or other health issues such as metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease. Insulin resistance is often associated with obesity, physical inactivity, and genetic factors.

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic condition characterized by the rapid aging of children. The term "progeria" comes from the Greek words "pro," meaning prematurely, and "gereas," meaning old age.

Individuals with progeria typically appear normal at birth but begin to display signs of accelerated aging within the first two years of life. These symptoms can include growth failure, loss of body fat and hair, aged-looking skin, joint stiffness, hip dislocation, and cardiovascular disease. The most common cause of death in progeria patients is heart attack or stroke due to widespread atherosclerosis (the hardening and narrowing of the arteries).

Progeria is caused by a mutation in the LMNA gene, which provides instructions for making a protein called lamin A. This protein is essential for the structure and function of the nuclear envelope, the membrane that surrounds the cell's nucleus. The mutation leads to the production of an abnormal form of lamin A called progerin, which accumulates in cells throughout the body, causing premature aging.

There is currently no cure for progeria, and treatment is focused on managing symptoms and complications. Researchers are actively studying potential treatments that could slow or reverse the effects of the disease.

Lamins are type V intermediate filament proteins that play a structural role in the nuclear envelope. They are the main components of the nuclear lamina, a mesh-like structure located inside the inner membrane of the nuclear envelope. Lamins are organized into homo- and heterodimers, which assemble into higher-order polymers to form the nuclear lamina. This structure provides mechanical support to the nucleus, helps maintain the shape and integrity of the nucleus, and plays a role in various nuclear processes such as DNA replication, transcription, and chromatin organization. Mutations in the genes encoding lamins have been associated with various human diseases, collectively known as laminopathies, which include muscular dystrophies, neuropathies, cardiomyopathies, and premature aging disorders.

Complement C3 Nephritic Factor (C3NeF) is a type of autoantibody that activates the complement system and plays a significant role in the development of certain types of kidney diseases. The complement system is a part of the immune system that helps to eliminate pathogens and damaged cells from the body.

C3NeF is specifically directed against the C3 convertase enzyme complex, which is a critical component of the complement system's activation pathway. By binding to this enzyme complex, C3NeF stabilizes it and enhances its activity, leading to excessive complement activation and subsequent tissue damage.

In the context of kidney diseases, C3NeF has been associated with several forms of glomerulonephritis, including membranoproliferative glomerulonephritis (MPGN) type II, also known as dense deposit disease (DDD). The persistent activation of the complement system by C3NeF can result in the accumulation of complement components and immune complexes in the glomeruli, causing inflammation, tissue injury, and ultimately leading to kidney function impairment.

It is essential to diagnose and monitor C3NeF levels in patients with kidney diseases, as it may help guide treatment decisions and assess disease prognosis. Therapeutic strategies targeting the complement system, such as eculizumab, have shown promising results in managing C3NeF-associated kidney diseases.

Body fat distribution refers to the way in which adipose tissue (fat) is distributed throughout the body. There are two main types of body fat distribution: android or central/abdominal distribution and gynoid or peripheral distribution.

Android or central/abdominal distribution is characterized by a higher proportion of fat deposited in the abdominal area, surrounding internal organs (visceral fat) and between muscle fibers (intramuscular fat). This pattern is more common in men and is associated with an increased risk of metabolic diseases such as type 2 diabetes, hypertension, dyslipidemia, and cardiovascular disease.

Gynoid or peripheral distribution is characterized by a higher proportion of fat deposited in the hips, thighs, and buttocks. This pattern is more common in women and is generally considered less harmful to health than android distribution. However, excessive accumulation of body fat, regardless of its distribution, can lead to obesity-related health problems.

It's important to note that body fat distribution can be influenced by various factors, including genetics, hormones, lifestyle, and environmental factors. Assessing body fat distribution is an essential aspect of evaluating overall health and disease risk.

Leptin is a hormone primarily produced and released by adipocytes, which are the fat cells in our body. It plays a crucial role in regulating energy balance and appetite by sending signals to the brain when the body has had enough food. This helps control body weight by suppressing hunger and increasing energy expenditure. Leptin also influences various metabolic processes, including glucose homeostasis, neuroendocrine function, and immune response. Defects in leptin signaling can lead to obesity and other metabolic disorders.

Hypertriglyceridemia is a medical condition characterized by an elevated level of triglycerides in the blood. Triglycerides are a type of fat (lipid) found in your blood that can increase the risk of developing heart disease, especially when levels are very high.

In general, hypertriglyceridemia is defined as having triglyceride levels greater than 150 milligrams per deciliter (mg/dL) of blood. However, the specific definition of hypertriglyceridemia may vary depending on individual risk factors and medical history.

Hypertriglyceridemia can be caused by a variety of factors, including genetics, obesity, physical inactivity, excessive alcohol consumption, and certain medications. In some cases, it may also be a secondary consequence of other medical conditions such as diabetes or hypothyroidism. Treatment for hypertriglyceridemia typically involves lifestyle modifications such as dietary changes, increased exercise, and weight loss, as well as medication if necessary.

Panniculitis is a medical term that refers to inflammation of the subcutaneous fat, or the layer of fat located just beneath the skin. This condition can affect people of all ages and genders, although it is more commonly seen in middle-aged women. The inflammation can be caused by a variety of factors, including infections, autoimmune disorders, trauma, and medications.

The symptoms of panniculitis may include:

* Red, painful lumps or nodules under the skin
* Skin lesions that may be tender, warm, or bruised
* Swelling and redness in the affected area
* Fever, fatigue, and malaise (a general feeling of illness)

The diagnosis of panniculitis typically involves a physical examination, medical history, and sometimes a biopsy of the affected tissue. Treatment depends on the underlying cause of the inflammation and may include antibiotics, anti-inflammatory medications, or other therapies. In severe cases, hospitalization may be necessary to manage symptoms and prevent complications.

Body composition refers to the relative proportions of different components that make up a person's body, including fat mass, lean muscle mass, bone mass, and total body water. It is an important measure of health and fitness, as changes in body composition can indicate shifts in overall health status. For example, an increase in fat mass and decrease in lean muscle mass can be indicative of poor nutrition, sedentary behavior, or certain medical conditions.

There are several methods for measuring body composition, including:

1. Bioelectrical impedance analysis (BIA): This method uses low-level electrical currents to estimate body fat percentage based on the conductivity of different tissues.
2. Dual-energy X-ray absorptiometry (DXA): This method uses low-dose X-rays to measure bone density and body composition, including lean muscle mass and fat distribution.
3. Hydrostatic weighing: This method involves submerging a person in water and measuring their weight underwater to estimate body density and fat mass.
4. Air displacement plethysmography (ADP): This method uses air displacement to measure body volume and density, which can be used to estimate body composition.

Understanding body composition can help individuals make informed decisions about their health and fitness goals, as well as provide valuable information for healthcare providers in the management of chronic diseases such as obesity, diabetes, and heart disease.

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by the triad of 1) early contractures of the elbow and Achilles tendons, 2) slowly progressive muscle weakness and wasting, which begins in the muscles around the shoulder and pelvis and later involves the arms and legs, and 3) cardiac conduction defects that can lead to serious heart rhythm abnormalities.

EDMD is caused by mutations in one of several genes, including the EMD, LMNA, FHL1, and SYNE1/2 genes. These genes provide instructions for making proteins that are important for maintaining the structure and function of muscle cells, as well as the electrical activity of the heart.

The symptoms of EDMD can vary in severity and age of onset, even among family members with the same genetic mutation. Treatment typically focuses on managing the symptoms of the disease, including physical therapy to maintain mobility, bracing or surgery for contractures, and medications to manage cardiac arrhythmias. In some cases, a heart transplant may be necessary.

HIV Protease Inhibitors are a class of antiretroviral medications used in the treatment of HIV infection. They work by blocking the activity of the HIV protease enzyme, which is necessary for the virus to replicate and infect new cells. By inhibiting this enzyme, the medication prevents the virus from maturing and assembling into new infectious particles.

HIV protease inhibitors are often used in combination with other antiretroviral drugs as part of a highly active antiretroviral therapy (HAART) regimen. This approach has been shown to effectively suppress viral replication, reduce the amount of virus in the bloodstream (viral load), and improve the health and longevity of people living with HIV.

Examples of HIV protease inhibitors include saquinavir, ritonavir, indinavir, nelfinavir, amprenavir, fosamprenavir, atazanavir, darunavir, and tipranavir. These medications are usually taken orally in the form of tablets or capsules, and may be prescribed alone or in combination with other antiretroviral drugs.

It is important to note that HIV protease inhibitors can have significant side effects, including gastrointestinal symptoms such as nausea, diarrhea, and abdominal pain, as well as metabolic changes such as increased cholesterol and triglyceride levels. Therefore, regular monitoring of liver function, lipid levels, and other health parameters is necessary to ensure safe and effective use of these medications.

A contracture, in a medical context, refers to the abnormal shortening and hardening of muscles, tendons, or other tissue, which can result in limited mobility and deformity of joints. This condition can occur due to various reasons such as injury, prolonged immobilization, scarring, neurological disorders, or genetic conditions.

Contractures can cause significant impairment in daily activities and quality of life, making it difficult for individuals to perform routine tasks like dressing, bathing, or walking. Treatment options may include physical therapy, splinting, casting, medications, surgery, or a combination of these approaches, depending on the severity and underlying cause of the contracture.

Phosphatidate phosphatase is an enzyme that plays a crucial role in the metabolism of lipids, particularly in the synthesis of glycerophospholipids, which are key components of cell membranes.

The term "phosphatidate" refers to a type of lipid molecule known as a diacylglycerol phosphate. This molecule contains two fatty acid chains attached to a glycerol backbone, with a phosphate group also attached to the glycerol.

Phosphatidate phosphatase functions to remove the phosphate group from phosphatidate, converting it into diacylglycerol (DAG). This reaction is an important step in the biosynthesis of glycerophospholipids, as DAG can be further metabolized to produce various types of these lipids, including phosphatidylcholine, phosphatidylethanolamine, and phosphatidylinositol.

There are two main types of phosphatidate phosphatase enzymes: type 1 and type 2. Type 1 phosphatidate phosphatase is primarily located in the cytosol and is involved in the synthesis of triacylglycerols, which are stored as energy reserves in cells. Type 2 phosphatidate phosphatase, on the other hand, is found on the endoplasmic reticulum membrane and plays a key role in the biosynthesis of glycerophospholipids.

Deficiencies or mutations in phosphatidate phosphatase enzymes can lead to various metabolic disorders, including some forms of lipodystrophy, which are characterized by abnormalities in fat metabolism and distribution.

Anti-HIV agents are a class of medications specifically designed to treat HIV (Human Immunodeficiency Virus) infection. These drugs work by interfering with various stages of the HIV replication cycle, preventing the virus from infecting and killing CD4+ T cells, which are crucial for maintaining a healthy immune system.

There are several classes of anti-HIV agents, including:

1. Nucleoside/Nucleotide Reverse Transcriptase Inhibitors (NRTIs): These drugs act as faulty building blocks that the virus incorporates into its genetic material, causing the replication process to halt. Examples include zidovudine (AZT), lamivudine (3TC), and tenofovir.
2. Non-nucleoside Reverse Transcriptase Inhibitors (NNRTIs): These medications bind directly to the reverse transcriptase enzyme, altering its shape and preventing it from functioning properly. Examples include efavirenz, nevirapine, and rilpivirine.
3. Protease Inhibitors (PIs): These drugs target the protease enzyme, which is responsible for cleaving viral polyproteins into functional components. By inhibiting this enzyme, PIs prevent the formation of mature, infectious virus particles. Examples include atazanavir, darunavir, and lopinavir.
4. Integrase Strand Transfer Inhibitors (INSTIs): These medications block the integrase enzyme, which is responsible for inserting the viral genetic material into the host cell's DNA. By inhibiting this step, INSTIs prevent the virus from establishing a permanent infection within the host cell. Examples include raltegravir, dolutegravir, and bictegravir.
5. Fusion/Entry Inhibitors: These drugs target different steps of the viral entry process, preventing HIV from infecting CD4+ T cells. Examples include enfuvirtide (T-20), maraviroc, and ibalizumab.
6. Post-Attachment Inhibitors: This class of medications prevents the virus from attaching to the host cell's receptors, thereby inhibiting infection. Currently, there is only one approved post-attachment inhibitor, fostemsavir.

Combination therapy using multiple classes of antiretroviral drugs has been shown to effectively suppress viral replication and improve clinical outcomes in people living with HIV. Regular adherence to the prescribed treatment regimen is crucial for maintaining an undetectable viral load and reducing the risk of transmission.

PPAR gamma, or Peroxisome Proliferator-Activated Receptor gamma, is a nuclear receptor protein that functions as a transcription factor. It plays a crucial role in the regulation of genes involved in adipogenesis (the process of forming mature fat cells), lipid metabolism, insulin sensitivity, and glucose homeostasis. PPAR gamma is primarily expressed in adipose tissue but can also be found in other tissues such as the immune system, large intestine, and brain.

PPAR gamma forms a heterodimer with another nuclear receptor protein, RXR (Retinoid X Receptor), and binds to specific DNA sequences called PPREs (Peroxisome Proliferator Response Elements) in the promoter regions of target genes. Upon binding, PPAR gamma modulates the transcription of these genes, either activating or repressing their expression.

Agonists of PPAR gamma, such as thiazolidinediones (TZDs), are used clinically to treat type 2 diabetes due to their insulin-sensitizing effects. These drugs work by binding to and activating PPAR gamma, which in turn leads to the upregulation of genes involved in glucose uptake and metabolism in adipose tissue and skeletal muscle.

In summary, PPAR gamma is a nuclear receptor protein that regulates gene expression related to adipogenesis, lipid metabolism, insulin sensitivity, and glucose homeostasis. Its activation has therapeutic implications for the treatment of type 2 diabetes and other metabolic disorders.

Adipocytes are specialized cells that comprise adipose tissue, also known as fat tissue. They are responsible for storing energy in the form of lipids, particularly triglycerides, and releasing energy when needed through a process called lipolysis. There are two main types of adipocytes: white adipocytes and brown adipocytes. White adipocytes primarily store energy, while brown adipocytes dissipate energy as heat through the action of uncoupling protein 1 (UCP1).

In addition to their role in energy metabolism, adipocytes also secrete various hormones and signaling molecules that contribute to whole-body homeostasis. These include leptin, adiponectin, resistin, and inflammatory cytokines. Dysregulation of adipocyte function has been implicated in the development of obesity, insulin resistance, type 2 diabetes, and cardiovascular disease.

Adipogenesis is the process by which precursor cells differentiate into mature adipocytes, or fat cells. This complex biological process involves a series of molecular and cellular events that are regulated by various genetic and epigenetic factors.

During adipogenesis, preadipocytes undergo a series of changes that include cell cycle arrest, morphological alterations, and the expression of specific genes that are involved in lipid metabolism and insulin sensitivity. These changes ultimately result in the formation of mature adipocytes that are capable of storing energy in the form of lipids.

Abnormalities in adipogenesis have been linked to various health conditions, including obesity, type 2 diabetes, and metabolic syndrome. Understanding the molecular mechanisms that regulate adipogenesis is an active area of research, as it may lead to the development of new therapies for these and other related diseases.

I'm sorry for any confusion, but "Oman" is not a medical term or concept. It is the name of a country, which is located on the southeastern coast of the Arabian Peninsula in Western Asia. If you have any questions related to medicine or healthcare, I would be happy to try and help answer those for you!

Subcutaneous fat, also known as hypodermic fat, is the layer of fat found beneath the skin and above the muscle fascia, which is the fibrous connective tissue covering the muscles. It serves as an energy reserve, insulation to maintain body temperature, and a cushion to protect underlying structures. Subcutaneous fat is distinct from visceral fat, which is found surrounding internal organs in the abdominal cavity.

Oligomenorrhea is a medical term used to describe infrequent menstrual periods, where the cycle length is more than 35 days but less than 68 days. It's considered a menstrual disorder and can affect people of reproductive age. The causes of oligomenorrhea are varied, including hormonal imbalances, polycystic ovary syndrome (PCOS), thyroid disorders, excessive exercise, significant weight loss or gain, and stress. In some cases, it may not cause any other symptoms, but in others, it can be associated with infertility, hirsutism (excessive hair growth), acne, or obesity. Treatment depends on the underlying cause and may include lifestyle modifications, hormonal medications, or surgery in rare cases.

Lipid metabolism is the process by which the body breaks down and utilizes lipids (fats) for various functions, such as energy production, cell membrane formation, and hormone synthesis. This complex process involves several enzymes and pathways that regulate the digestion, absorption, transport, storage, and consumption of fats in the body.

The main types of lipids involved in metabolism include triglycerides, cholesterol, phospholipids, and fatty acids. The breakdown of these lipids begins in the digestive system, where enzymes called lipases break down dietary fats into smaller molecules called fatty acids and glycerol. These molecules are then absorbed into the bloodstream and transported to the liver, which is the main site of lipid metabolism.

In the liver, fatty acids may be further broken down for energy production or used to synthesize new lipids. Excess fatty acids may be stored as triglycerides in specialized cells called adipocytes (fat cells) for later use. Cholesterol is also metabolized in the liver, where it may be used to synthesize bile acids, steroid hormones, and other important molecules.

Disorders of lipid metabolism can lead to a range of health problems, including obesity, diabetes, cardiovascular disease, and non-alcoholic fatty liver disease (NAFLD). These conditions may be caused by genetic factors, lifestyle habits, or a combination of both. Proper diagnosis and management of lipid metabolism disorders typically involves a combination of dietary changes, exercise, and medication.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

I could not find a medical definition specifically for "Cocos." However, Cocos is a geographical name that may refer to:

* The Cocos (Keeling) Islands, an Australian territory in the Indian Ocean.
* Cocos nucifera, the scientific name for the coconut palm tree.

There are some medical conditions related to the consumption of coconuts or exposure to the coconut palm tree, such as allergies to coconut products, but there is no specific medical term "Cocos."

Subcutaneous tissue, also known as the subcutis or hypodermis, is the layer of fatty connective tissue found beneath the dermis (the inner layer of the skin) and above the muscle fascia. It is composed mainly of adipose tissue, which serves as a energy storage reservoir and provides insulation and cushioning to the body. The subcutaneous tissue also contains blood vessels, nerves, and immune cells that support the skin's functions. This layer varies in thickness depending on the location in the body and can differ significantly between individuals based on factors such as age, genetics, and weight.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

Electrocardiography (ECG or EKG) is a medical procedure that records the electrical activity of the heart. It provides a graphic representation of the electrical changes that occur during each heartbeat. The resulting tracing, called an electrocardiogram, can reveal information about the heart's rate and rhythm, as well as any damage to its cells or abnormalities in its conduction system.

During an ECG, small electrodes are placed on the skin of the chest, arms, and legs. These electrodes detect the electrical signals produced by the heart and transmit them to a machine that amplifies and records them. The procedure is non-invasive, painless, and quick, usually taking only a few minutes.

ECGs are commonly used to diagnose and monitor various heart conditions, including arrhythmias, coronary artery disease, heart attacks, and electrolyte imbalances. They can also be used to evaluate the effectiveness of certain medications or treatments.

The KCNQ1 potassium channel, also known as the Kv7.1 channel, is a voltage-gated potassium ion channel that plays a crucial role in the regulation of electrical excitability in cardiac myocytes and inner ear epithelial cells. In the heart, it helps to control the duration and frequency of action potentials, thereby contributing to the maintenance of normal cardiac rhythm. Mutations in the KCNQ1 gene can lead to various cardiac disorders, such as long QT syndrome type 1 and familial atrial fibrillation. In the inner ear, it helps regulate potassium homeostasis and is essential for hearing and balance functions. Dysfunction of this channel has been linked to deafness and balance disorders.

Congenital Disorders of Glycosylation (CDG) are a group of genetic disorders that affect the body's ability to add sugar molecules (glycans) to proteins and lipids. This process, known as glycosylation, is essential for the proper functioning of many cellular processes, including protein folding, trafficking, and signaling.

CDG can be caused by mutations in genes that are involved in the synthesis or transport of glycans. These genetic defects can lead to abnormal glycosylation patterns, which can result in a wide range of clinical manifestations, including developmental delay, intellectual disability, seizures, movement disorders, hypotonia, coagulation abnormalities, and multi-organ involvement.

CDG are typically classified into two main types: type I CDG, which involves defects in the synthesis of the lipid-linked oligosaccharide precursor used for N-glycosylation, and type II CDG, which involves defects in the processing and transfer of glycans to proteins.

The diagnosis of CDG is often based on clinical features, laboratory tests, and genetic analysis. Treatment is typically supportive and multidisciplinary, focusing on addressing specific symptoms and improving quality of life. In some cases, dietary modifications or supplementation with mannose or other sugars may be beneficial.

Ether-à-go-go (EAG) potassium channels are a type of voltage-gated potassium channel that are widely expressed in the heart, brain, and other tissues. They are named after the ethereal dance movements observed in fruit flies with mutations in these channels.

EAG potassium channels play important roles in regulating electrical excitability and signaling in excitable cells. In the heart, they help to control the duration of the action potential and the refractory period, which is critical for maintaining normal heart rhythm. In the brain, they are involved in regulating neuronal excitability and neurotransmitter release.

Mutations in EAG potassium channels have been associated with various human diseases, including cardiac arrhythmias, epilepsy, and bipolar disorder. The medical definition of "Ether-A-Go-Go Potassium Channels" refers to the genetic components that make up these channels and their role in physiological processes and disease states.

Syncope is a medical term defined as a transient, temporary loss of consciousness and postural tone due to reduced blood flow to the brain. It's often caused by a drop in blood pressure, which can be brought on by various factors such as dehydration, emotional stress, prolonged standing, or certain medical conditions like heart diseases, arrhythmias, or neurological disorders.

During a syncope episode, an individual may experience warning signs such as lightheadedness, dizziness, blurred vision, or nausea before losing consciousness. These episodes usually last only a few minutes and are followed by a rapid, full recovery. However, if left untreated or undiagnosed, recurrent syncope can lead to severe injuries from falls or even life-threatening conditions related to the underlying cause.

Cardiac arrhythmias are abnormal heart rhythms that result from disturbances in the electrical conduction system of the heart. The heart's normal rhythm is controlled by an electrical signal that originates in the sinoatrial (SA) node, located in the right atrium. This signal travels through the atrioventricular (AV) node and into the ventricles, causing them to contract and pump blood throughout the body.

An arrhythmia occurs when there is a disruption in this electrical pathway or when the heart's natural pacemaker produces an abnormal rhythm. This can cause the heart to beat too fast (tachycardia), too slow (bradycardia), or irregularly.

There are several types of cardiac arrhythmias, including:

1. Atrial fibrillation: A rapid and irregular heartbeat that starts in the atria (the upper chambers of the heart).
2. Atrial flutter: A rapid but regular heartbeat that starts in the atria.
3. Supraventricular tachycardia (SVT): A rapid heartbeat that starts above the ventricles, usually in the atria or AV node.
4. Ventricular tachycardia: A rapid and potentially life-threatening heart rhythm that originates in the ventricles.
5. Ventricular fibrillation: A chaotic and disorganized electrical activity in the ventricles, which can be fatal if not treated immediately.
6. Heart block: A delay or interruption in the conduction of electrical signals from the atria to the ventricles.

Cardiac arrhythmias can cause various symptoms, such as palpitations, dizziness, shortness of breath, chest pain, and fatigue. In some cases, they may not cause any symptoms and go unnoticed. However, if left untreated, certain types of arrhythmias can lead to serious complications, including stroke, heart failure, or even sudden cardiac death.

Treatment for cardiac arrhythmias depends on the type, severity, and underlying causes. Options may include lifestyle changes, medications, cardioversion (electrical shock therapy), catheter ablation, implantable devices such as pacemakers or defibrillators, and surgery. It is essential to consult a healthcare professional for proper evaluation and management of cardiac arrhythmias.

... (also known as Berardinelli-Seip lipodystrophy) is an extremely rare autosomal recessive ... Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli ... Lipodystrophy Familial partial lipodystrophy List of cutaneous conditions Skin lesion Seipin "Congenital Generalized ... "congenital generalized lipodystrophy". Genetics Home Reference. Retrieved 2017-05-01. Viégas, RF; Diniz, RV; Viégas, TM; Lira, ...
2004). "Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation ... It can be associated with Congenital generalized lipodystrophy type 2 . GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, ... "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in ... "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". GeneReviews/NCBI/NIH/UW entry on BSCL2-Related ...
Mutations in this gene have been associated with congenital generalized lipodystrophy, a disease characterized by a near ... "A gene for congenital generalized lipodystrophy maps to human chromosome 9q34". The Journal of Clinical Endocrinology and ... "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature Genetics. 31 (1): 21-3. doi: ... "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in ...
... mutations have been associated with congenital generalized lipodystrophy (see below), and mutations in an N- ... Patni N, Garg A (September 2015). "Congenital generalized lipodystrophies--new insights into metabolic dysfunction". Nature ... congenital generalized lipodystrophy) is a heterogeneous genetic disorder characterized by almost complete loss of adipose ... Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin ...
Familial partial lipodystrophy Congenital generalized lipodystrophy Iglesias P, Alvarez Fidalgo P, Codoceo R, Díez J (2004). " ... Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs ...
... was approved in the United States in 2014 for use in congenital leptin deficiency and generalized lipodystrophy. An ... and for the diabetes and hypertriglyceridemia associated with congenital or acquired generalized lipodystrophy. In Europe based ... The medicine is used in adults and children above the age of 2 years with generalised lipodystrophy (Berardinelli-Seip syndrome ... June 1997). "Congenital leptin deficiency is associated with severe early-onset obesity in humans". Nature. 387 (6636): 903-908 ...
... congenital or familial), and generalized or partial. Both acquired or inherited lipodystrophy present as loss of adipose ... see HIV-Associated Lipodystrophy). The clinical presentation is similar to people with congenital lipodystrophy: the only ... Acquired generalized lipodystrophy (also known as "Lawrence syndrome," and "Lawrence-Seip syndrome", abbreviation: AGL) is a ... It is the only drug option approved for generalized lipodystrophy-related symptoms and is not intended to use for patients with ...
... in patients with congenital generalized or acquired generalized lipodystrophy. The most common side effects include ... It is used in adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip syndrome and ... therapy to treat the complications of leptin deficiency in people with congenital or acquired generalized lipodystrophy. ... Metreleptin is effective in most patients with generalized lipodystrophy where circulating leptin levels are extremely low. ...
... can be divided into the following types:: 495-7 Congenital lipodystrophy syndromes Congenital generalized ... Localized lipodystrophy HIV-associated lipodystrophy Congenital lipodystrophy (due to inherited genetic defect) is estimated to ... Acquired generalized lipodystrophy Centrifugal abdominal lipodystrophy (Lipodystrophia centrifugalis abdominalis infantilis) ... The medicine is used in: adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip ...
Chromosome Xq26.3 duplication syndrome Congenital generalized lipodystrophy type 1 Congenital generalized lipodystrophy type 2 ...
De Brasi, D; Brunetti-Pierri, N; Di Micco, P; Andria, G; Sebastio, G (2003). "New syndrome with generalized lipodystrophy and a ... Keppen-Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen-Lubinsky ... generalized lipodystrophy, microcephaly, and development delay. Keppen-Lubinsky syndrome is caused by mutation in the inwardly ...
Congenital bilateral perisylvian syndrome Congenital generalized lipodystrophy Congenital insensitivity to pain Congenital ... myasthenic syndrome Congenital nephrotic syndrome Congenital rubella syndrome Conn's syndrome Conorenal syndrome Conradi- ... Lenz microphthalmia syndrome Lenz-Majewski syndrome Leriche's syndrome Leschke syndrome Lesch-Nyhan syndrome Lethal congenital ... disease Marden-Walker syndrome Mare reproductive loss syndrome Marfan syndrome Marfanoid-progeroid-lipodystrophy syndrome Marie ...
... in patients with congenital generalized or acquired generalized lipodystrophy. Metraleptin was originally developed at Amylin ... Lipodystrophy Orphan Drug Program. Amylin Pharmaceuticals. U.S. Food and Drug Administration (25 February 2014). "FDA approves ...
... and severe generalized lipodystrophy (failure to generate adipose tissue). KCNJ6 is in the Down syndrome critical region such ... 2015). "De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, ... Several channelopathies result in morphological abnormalities or congenital birth defects in addition to symptoms that affect ... "Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the ...
BSCL2 Lipodystrophy, congenital generalized, type 3; 612526; CAV1 Lipodystrophy, congenital generalized, type 4; 613327; PTRF ... LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; ... GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; ... LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; ...
Based on visual inspection, it was originally thought that the lipodystrophy associated with MPL was generalized. However, it ... "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene ... Marfanoid-progeroid-lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid ... In 2016, it was discovered that the partial lipodystrophy associated with MPL is caused by loss of the C-terminal domain ...
Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) Cytophagic histiocytic panniculitis Drug-induced ... congenital hemangiopericytoma) Infantile myofibromatosis (congenital generalized fibromatosis, congenital multicentric ... Congenital erosive and vesicular dermatosis Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit ( ... congenital constriction bands, pseudoainhum) Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital ...
... and generalized lipodystrophy to infant-lethal restrictive dermopathy.[citation needed] In the case of autosomal dominant ... "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623- ... In 2006, lamin B2 missense mutations were identified in patients with acquired partial lipodystrophy. The most common mutation ... lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these ...
618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B". omim.org. Retrieved 2023-07-03. Tajsharghi, Homa; ... In some forms of lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though the ... generalized muscle hypertrophy, calf muscle hypertrophy, thigh hypertrophy The Human Phenotype Ontology (HPO) project - ... "CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYP7A". www.omim.org. Retrieved 2023-09-23. "#255800 - SCHWARTZ- ...
Erich Benjamin Berardinelli-Seip congenital lipodystrophy - Waldemar Berardinelli, Martin Seip Berdon syndrome - Walter Berdon ... generalized pustular psoriasis) - (a.k.a. Zumbusch psoriasis) Leo Ritter von Zumbusch Von Zumbusch syndrome (a.k.a. Csillag ... generalized pustular psoriasis) - Leo Ritter von Zumbusch Zumbusch syndrome (a.k.a. Csillag disease, Hallopeau disease, von ...
Congenital generalized lipodystrophy (also known as Berardinelli-Seip lipodystrophy) is an extremely rare autosomal recessive ... Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli ... Lipodystrophy Familial partial lipodystrophy List of cutaneous conditions Skin lesion Seipin "Congenital Generalized ... "congenital generalized lipodystrophy". Genetics Home Reference. Retrieved 2017-05-01. Viégas, RF; Diniz, RV; Viégas, TM; Lira, ...
Two forms of this syndrome exist, acquired and congenital. ... with the generalized complete absence of subcutaneous fat and ... Generalized lipodystrophy syndrome is the association of acanthosis nigricans (AN) ... In one patient with congenital generalized lipodystrophy (Berardinelli-Seip congenital lipodystrophy), a homozygous de novo ... Congenital generalized lipodystrophy has been linked with mutations of the AGPAT2, BSCL2, and PTRF genes. [7] Type 2 congenital ...
Berardinelli-Seip congenital lipodystrophy, see Congenital generalized lipodystrophy. *Berardinelli-Seip syndrome, see ... Brunzell syndrome (with bone cysts), see Congenital generalized lipodystrophy. *Brutons agammaglobulinemia, see X-linked ... Bullous congenital ichthyosiform erythroderma, see Epidermolytic hyperkeratosis. *Bullous erythroderma ichthyosiforme, see ...
... model for congenital generalized lipodystrophy. Genes Dev. 1998. 12:3182-3194. View this article via: PubMed CrossRef Google ... Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J. Clin. Invest. 2002. 109:1345 ... with lipodystrophy undergo lipid accumulation in muscle that can be reversed by treatment with hormones such as leptin that ...
congenital generalized lipodystrophy + congenital granular cell tumor congenital heart block + CONGENITAL HEART DEFECTS AND ... spondyloepiphyseal dysplasia with congenital joint dislocations T-cell immunodeficiency, congenital alopecia, and nail ... palmoplantar keratoderma and congenital alopecia 1 (DOID:0111244). Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) ... Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts Aplasia Cutis Congenita, High Myopia, and Cone-Rod ...
Congenital generalized lipodystrophies-new insights into metabolic dysfunction . Nat. Rev. Endocrinol. 11 , 522 - 534 . Google ... 2007 ). Hypotension, lipodystrophy, and insulin resistance in generalized PPARγ-deficient mice rescued from embryonic lethality ... Thus, it is worth to find out whether SENP2 mutation or other SENP2 dysfunction events occur in adipocytes in lipodystrophy ... The disruption of Pparγ2 or adipocyte-specific Pparγ knockout has been shown to cause severe lipodystrophy and insulin ...
The ecology of the microbiome in children with congenital generalized lipodystrophy type 4 (CGL4) is quickly modified after ... ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 ... Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue ...
... is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ... Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 ... and colleagues reported genetic mutations resulting in defective caveolae in families with congenital generalized lipodystrophy ... The congenital long QT syndrome Type 3: An update. Indian Pacing Electrophysiol J. 2018 Jan - Feb. 18(1):25-35. [QxMD MEDLINE ...
Mibavademabis under clinical development by Regeneron Pharmaceuticals and currently in Phase II for Acquired Generalized ... Mibavademab is under development for the treatment of congenital or acquired generalized lipodystrophy and obesity. The drug ... Mibavademab by Regeneron Pharmaceuticals for Acquired Generalized Lipodystrophy (Lawrence Syndrome): Likelihood of Approval. ... Phase II drugs for Acquired Generalized Lipodystrophy (Lawrence Syndrome) does not have sufficient historical data to build an ...
2015Congenital generalized lipodystrophies--new insights into metabolic dysfunctionNat Rev Endocrinol. 11:522-534https://doi. ... 2003Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the ... Typically, loss of white adipose tissue (WAT) leads to a condition known as lipodystrophy 25, 26. Lipodystrophy patients nearly ... model for congenital generalized lipodystrophyGenes Dev. 12:3182-3194https://doi.org/. 10.1101/gad.12.20.3182 ...
... since the severity of insulin resistance in AS often exceeds that in congenital generalised lipodystrophy, other factors are ...
... and liver function tests in children and adolescents with lipodystrophy during a 12-month period. ... The four major subtypes of LD, congenital generalized LD, acquired generalized LD, familial partial LD and acquired partial LD ... human hormone leptin analogue for the treatment of metabolic disorders associated with inherited or acquired lipodystrophy (LD ...
Subcutaneous loss of fat can occur as generalized or partial lipodystrophy; the latter is more common. ... Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, ... Berardinelli-Seip congenital lipodystrophy type 2, the severest form of human lipodystrophy with an almost complete loss of ... Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1. J Clin Endocrinol Metab. ...
They include generalized, localized, congenital, and acquired lipodystrophy. Examples HIV-Associated Lipodystrophy Syndrome ... Lipodystrophy *Acro-Osteolysis Mandible/abnormalities. LMNA protein, human 0 *Lamin Type A Lipodystrophy. Diabetologia. 2004 ... Lipodystrophy *Craniofacial Abnormalities. Am. J. Med. Genet. 1992;43: 877 Mandibuloacral dysplasia with type A lipodystrophy 0 ... Cardiomyopathy, Hypertrophic *Diabetes Mellitus *Fatty Liver *Lipodystrophy. Mandibuloacral dysplasia with type B lipodystrophy ...
Lipodystrophy, Congenital Generalized, Type 3. Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, ... Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2. ... Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund.... ORPHA:215. ... Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund.... ORPHA:215. ...
Mutations affecting the CAV1 gene can result in congenital generalized lipodystrophy 3, pulmonary hypertension primary 3, or ...
Two forms of this syndrome exist, acquired and congenital. ... with the generalized complete absence of subcutaneous fat and ... Generalized lipodystrophy syndrome is the association of acanthosis nigricans (AN) ... In one patient with congenital generalized lipodystrophy (Berardinelli-Seip congenital lipodystrophy), a homozygous de novo ... syndrome being acquired generalized lipodystrophy and Berardinelli-Seip syndrome being congenital generalized lipodystrophy. ...
Berardinelli-Seip congenital lipodystrophy (congenital generalized lipodystrophy), Petty-Laxova-Weidemann progeroid syndrome, ... generalized alopecia, a small face, a beaked nose, and thin and inelastic skin; B: In the lateral view, prominent scalp veins ... generalized alopecia, prominent scalp veins, small face with a beaked nose, and high-pitched voice (Figure 1). The patient had ... generalized alopecia, prominent scalp veins, small face with a beaked nose, and high-pitched voice. ...
O Congenital generalized lipodystrophy,O Congenital giant melanocytic nevus,O Congenital goiter,O Congenital hemolytic anemia,O ... O Generalized joint laxity,O Generalized keratosis follicularis,O Generalized limb muscle atrophy,O Generalized lipodystrophy,O ... O Generalized clonic seizures,O Generalized distal tubular acidosis,O Generalized dystonia,O Generalized edema,O Generalized ... O Congenital microthorax,O Congenital miosis,O Congenital mitral stenosis,O Congenital muscular dystrophy,O Congenital muscular ...
... in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized ... Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet1986;23: ... Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet2000;9: ... A skeletal survey revealed generalised osteopenia, wormian bones with persistence of suture lines in his cranium, coxa valga, ...
PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often ... of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. Traffic ... De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350(6265): ... De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other ...
Palavras-chave : Lipodystrophy; Congenital Generalized.; Oral health.; Malocclusion.. · resumo em Português · texto em ...
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia. Costa, S. ... A novel generalized lipodystrophy-associated progeroid syndrome due to recurrent heterozygous LMNA p.T10I mutation. Hussain, I. ... Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy. Mandel-Brehm, C., Vazquez, S. E., Liverman ... Caveolar dysfunction and lipodystrophies. Patni, N., Hegele, R. A. & Garg, A., Mar 2022, In: European Journal of Endocrinology. ...
... congenital generalized lipodystrophy (CGL), acquired generalized lipodystrophy, familial partial lipodystrophy, and acquired ... Congenital generalized lipodystrophy type 2 in a patient from a high-prevalence area. J Endocr Soc 2017 Jun;1(8):1012-1014. ... Congenital generalized lipodystrophy in a youth presented with sclerotic and lytic bone lesions; a family with AGPAT2 mutation ... Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated ...
Congenital generalized lipodystrophy. One of the roles the PTRF product has it to stabilize and aid in formation of caveolae. ... Congenital Disorders of Glycosylation (CDG) are a group of rare genetic disorders that affect the process of adding sugar ... Congenital Disorders of Glycosylation (CDG) are a group of rare genetic disorders that affect the way that sugars (called ... Congenital Disorders of Glycosylation. A genetically heterogeneous group of heritable disorders resulting from defects in ...
Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges ... A novel biallelic variant c.2219T , A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Shravya, M ... Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting ...
Improved xanthomas after leptin replacement short therapy in congenital lipodystrophy patient. Oliveira-Filho Antonio F , ... Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin ...
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. Orphanet J Rare Dis. 2013;8:119. ... a mutation in this gene has been associated with the development of congenital generalized lipodystrophy [53]. We also found ...
Congenital Generalized Lipodystrophy. Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia. ORPHA:528. ... Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef.... OMIM:239850. ... Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects. ... Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis,.... OMIM:300257. ...
  • Congenital generalized lipodystrophy (also known as Berardinelli-Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. (wikipedia.org)
  • Some divide generalized lipodystrophy into a congenital and an acquired form, with Lawrence-Seip syndrome being acquired generalized lipodystrophy and Berardinelli-Seip syndrome being congenital generalized lipodystrophy. (medscape.com)
  • Berardinelli-Seip congenital generalized lipodystrophy patients tend to die prematurely by some 30 or more years, most from liver disease or infection. (medscape.com)
  • Delayed emergence from anesthesia has been described in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (medscape.com)
  • Berardinelli-Seip congenital lipodystrophy type 2, the severest form of human lipodystrophy with an almost complete loss of adipose tissue, is due to loss-of-function mutations in the BSCL2/SEIPIN gene. (medscape.com)
  • Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. (omjournal.org)
  • Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidaemia in childhood and development of diabetes and hepatic steatosis in adolescence. (endocrine-abstracts.org)
  • Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a generalized lack of adipose tissue, evolvi. (scholars.direct)
  • Generalized lipodystrophy syndrome is the association of acanthosis nigricans (AN) with the generalized complete absence of subcutaneous fat and the presence of muscle hypertrophy, hyperlipemia, diabetes mellitus, and hepatosplenomegaly with cirrhosis. (medscape.com)
  • Two forms of this syndrome exist, acquired and congenital. (medscape.com)
  • In 1959, Seip described a similar congenital syndrome, but without diabetes mellitus, in 3 young Norwegian children. (medscape.com)
  • In 1960, Schwartz and coworkers first associated AN with the congenital syndrome described earlier, and since then, many more patients have been described. (medscape.com)
  • This entity is now known as generalized lipodystrophy or Lawrence-Seip syndrome. (medscape.com)
  • This syndrome is clearly distinct from those of partial lipodystrophy. (medscape.com)
  • A new syndrome of generalized lipodystrophy with a hypothalamic brain tumor (pilocytic astrocytoma) has been described in three children. (medscape.com)
  • Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (medscape.com)
  • Findings on physical examination usually do not indicate a diagnosis of LQTS, although some patients may present with excessive bradycardia for their age, and some patients may have hearing loss (congenital deafness), indicating the possibility of Jervell and Lange-Nielsen syndrome. (medscape.com)
  • Skeletal abnormalities, such as short stature and scoliosis are seen in the LQT7 type (Andersen syndrome), and congenital heart diseases, cognitive and behavioral problems, musculoskeletal diseases, and immune dysfunction may be seen in those with LQT8 type (Timothy syndrome). (medscape.com)
  • Mibavademab is under clinical development by Regeneron Pharmaceuticals and currently in Phase II for Acquired Generalized Lipodystrophy (Lawrence Syndrome). (pharmaceutical-technology.com)
  • According to GlobalData, Phase II drugs for Acquired Generalized Lipodystrophy (Lawrence Syndrome) does not have sufficient historical data to build an indication benchmark PTSR for Phase II. (pharmaceutical-technology.com)
  • Mutations affecting the CAV1 gene can result in congenital generalized lipodystrophy 3, pulmonary hypertension primary 3, or partial lipodystrophy/congenital cataracts, and neurodegeneration syndrome. (thermofisher.com)
  • Generalized lipodystrophy is a rare disorder characterized by marked loss of adipose tissue with reduced triglyceride storage capacity, leading to a severe form of metabolic syndrome including hypertriglyceridemia, insulin resistance, type 2 diabetes mellitus, and hepatic steatosis. (elsevierpure.com)
  • Background Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. (uaeu.ac.ae)
  • Acquired partial lipodystrophy, also known as Barraquer-Simons syndrome or cephalothoracic lipodystrophy, is one of the rare forms of lipodystrophy. (medscape.com)
  • It is a rare syndrome with no known prevalence, although it is more common than the generalized form of acquired lipodystrophy (Lawrence syndrome). (medscape.com)
  • The four major subtypes of LD, congenital generalized LD, acquired generalized LD, familial partial LD and acquired partial LD were studied. (empr.com)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • 1 Based on these characteristics, four subgroups of generalized and partial forms are identified: congenital generalized lipodystrophy (CGL), acquired generalized lipodystrophy, familial partial lipodystrophy, and acquired partial lipodystrophy. (omjournal.org)
  • The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy, an autosomal recessive disorder characterized by near complete lack of metabolically active adipose tissue from birth, and familial partial lipodystrophy, Dunnigan type, an autosomal dominant disorder characterized by loss of subcutaneous fat from the extremities at puberty and excess fat accumulation in the face and neck. (medscape.com)
  • Five cases were reported but the phenotype resembles Dunnigan-type familial partial lipodystrophy rather than classic acquired partial lipodystrophy. (medscape.com)
  • Progressive lipodystrophy is the most common type of partial lipodystrophy. (medscape.com)
  • [ 2 , 3 ] Acquired partial lipodystrophy is a rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities beginning during childhood and is more common in girls. (medscape.com)
  • However, some forms of partial lipodystrophy in children do not seem to fit the diagnostic criteria for any of the established lipodystrophy subset. (medscape.com)
  • Model of the adipocyte destruction in acquired partial lipodystrophy showing complement activation at the adipocyte surface resulting in adipocyte lysis. (medscape.com)
  • generalized, partial, and localized. (omjournal.org)
  • The first two groups can be secondary to underlying genetic defects or acquired due to autoimmune mechanisms or drugs such as highly active antiretroviral therapy (HAART)-induced partial lipodystrophy. (omjournal.org)
  • Acquired partial lipodystrophy is a rare condition with onset in childhood or adolescence. (medscape.com)
  • Owing to its rarity in male patients, we are presenting the case of acquired partial lipodystrophy in a 12-year-old boy with a granular accumulation of C 3 in the basement membrane on skin biopsy. (medscape.com)
  • Patients with acquired generalized lipodystrophy have generalized loss of subcutaneous fat, but those with acquired partial lipodystrophy have fat loss limited to the face, trunk, and upper extremities. (medscape.com)
  • Acquired partial lipodystrophy is a rare condition with approximately 250 described patients of various ethnic origins. (medscape.com)
  • Cite this: Acquired Partial Lipodystrophy Associated With Hypocomplementemia - Medscape - Sep 01, 2005. (medscape.com)
  • It is classified as either diffuse (generalized) or local (partial) and results from either genetic or acquired etiologies. (medscape.com)
  • Circulating levels of these adipokines are lower in generalized versus partial lipodystrophy as predicted from the loss of fat. (medscape.com)
  • Acquired partial lipodystrophy usually begins in childhood, at a median age of 7 years. (medscape.com)
  • Compared with other types of lipodystrophy, acquired partial lipodystrophy is seldom associated with insulin resistance and its related metabolic derangements. (medscape.com)
  • [ 5 ] mental retardation and retinal disease are among the syndromes that also are associated with acquired partial lipodystrophy. (medscape.com)
  • Diabetes and impaired glucose tolerance - In contrast with their occurrence in most other lipodystrophies, diabetes and impaired glucose tolerance are found only rarely in acquired partial lipodystrophy, being reported in 6.7% and 8.9% of patients, respectively. (medscape.com)
  • Recently novel mutations in the LMNB2 gene have been identified in 4 of 5 acquired partial lipodystrophy patients tested. (medscape.com)
  • Another form of lipodystrophy that fits the classification of "acquired partial" not involving the complement pathway is associated with hematopoietic stem cell transplantation (HSCT) to treat leukemia or neuroblastoma. (medscape.com)
  • Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. (endocrine-abstracts.org)
  • This study introduces a valuable paradigm in the field of adipose tissue biology: blocking triglyceride storage in adipose tissue does not lead to lipodystrophy and impaired glucose homeostasis but instead improves metabolic health. (elifesciences.org)
  • We expected to generate a mouse model similar to those of classic lipodystrophy due to defects of TG storage in adipose tissue. (elifesciences.org)
  • Lipodystrophy refers to the loss of adipose tissue. (medscape.com)
  • Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from the subcutaneous compartment and occasionally from visceral fat. (medscape.com)
  • The lipodystrophy syndromes are a heterogeneous group of syndromes characterized by selective loss of fat from various parts of the body. (medscape.com)
  • Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. (wikipedia.org)
  • Over the next 3 years, a complete generalized loss of subcutaneous fat developed that began focally in the lower extremities. (medscape.com)
  • Related articles include Type 1 Diabetes Mellitus , Type 2 Diabetes Mellitus , Acanthosis Nigricans , Dermatologic Manifestations of Localized Lipodystrophy , Progressive Lipodystrophy , and Lipodystrophy in HIV . (medscape.com)
  • Progressive lipodystrophy is a rare condition that typically affects children and young adults. (medscape.com)
  • The 3 patients exhibited rapid growth with advanced bone age, dilation of the cerebral ventricles, hepatosplenomegaly with cirrhosis, generalized muscular overdevelopment, hypertrichosis, hypertension, punctate corneal opacities, and brownish pigmentation over the flexural creases. (medscape.com)
  • Patients with the congenital form of generalized lipodystrophy tend to survive into young adulthood or early middle age. (medscape.com)
  • 1 About 300 patients have been described in the literature as having generalized lipodystrophy. (omjournal.org)
  • To test this hypothesis, the first cardiac magnetic resonance study of patients with generalized lipodystrophy was performed, using magnetic resonance imaging and localized proton spectroscopy to detect excessive triglyceride content in the hypertrophied myocytes. (elsevierpure.com)
  • Six patients with generalized lipodystrophy and 6 healthy controls matched for age, gender, and body mass index were studied. (elsevierpure.com)
  • Patients with generalized lipodystrophy, compared with controls, also had a striking degree of concentric LV hypertrophy, independent of blood pressure: LV mass index 101.0 ± 18.3 versus 69.0 ± 17.7 g/m 2 , respectively (p = 0.02), and LV concentricity 1.3 ± 0.3 versus 0.99 ± 0.1 g/ml, respectively (p = 0.04). (elsevierpure.com)
  • These processes to severe lipodystrophy and induces insulin resistance in mice (He et al. (deepdyve.com)
  • Hyperinsulinemia and insulin resistance characterize generalized lipodystrophy. (medscape.com)
  • 3 Localized lipodystrophies, affecting small areas can result at sites of insulin and steroids injection. (omjournal.org)
  • Conversely, the persistent congenital hyperinsulinism is due to a focal or diffuse overproduction of insulin originated by the pancreas in relation to various genetic disorders [ 6 ]. (biomedcentral.com)
  • Congenital generalized lipoatrophy in a 16-year-old girl. (medscape.com)
  • It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. (wikipedia.org)
  • Mandibuloacral dysplasia (MAD) is a rare disorder combining a characteristic facial appearance with acro-osteolysis and lipodystrophy. (bmj.com)
  • Conversely, insufficient TG storage such as occurs in lipodystrophy is usually associated with adipocyte endocrine deficiency and similar metabolic derangements. (elifesciences.org)
  • [ 3 ] This variety (like acquired generalized lipodystrophy) occurs approximately 3 times more often in women, begins during childhood, and has underlying autoimmunity. (medscape.com)
  • Loss of rMAT occurs in mice with congenital generalized lipodystrophy type 4, whereas both rMAT and cMAT are preserved in mice with congenital generalized lipodystrophy type 3. (wustl.edu)
  • PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). (biomedcentral.com)
  • In particular among the 30% of infants without congenital cardiac diseases born from diabetic mothers, the echocardiographic exam presents an interventricular septum and ventricular walls hypertrophy with a ratio from interventricular septal / left posterior ventricle wall higher than 1,3 [ 17 ]. (biomedcentral.com)
  • Senp2 knockout mice exhibited a lipodystrophy-like phenotype. (deepdyve.com)
  • A family with dilated cardiomyopathy associated with lipodystrophy and neurological manifestations and overlapping phenotype from lamin A/C mutation was delineated in detail with a follow-up of 22 years. (medscape.com)
  • Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy. (medscape.com)
  • Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage, as in obesity, results in metabolic disease. (elifesciences.org)
  • Bristol-Myers Squibb and AstraZeneca announced the results from a 12-month sub-group analysis of a National Institutes of Health (NIH), open-label, long-term research study of metreleptin, an investigational human hormone leptin analogue for the treatment of metabolic disorders associated with inherited or acquired lipodystrophy (LD). (empr.com)
  • Background: Congenital Generalized Lipodystrophy (CGL) is a rare disease characterized by metabolic outcomes such as hypertriglyceridemia, hyperinsulinemia, hypoleptinemia, hypoadiponectinemia and diabetes mellitus. (ufrn.br)
  • Mibavademab is under development for the treatment of congenital or acquired generalized lipodystrophy and obesity. (pharmaceutical-technology.com)
  • The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant leptin.Method. (endocrine-abstracts.org)
  • Infants of diabetic mothers show an incidence of congenital cardiac disease of about 3.6%, compared to 0.8% in the general population [ 16 ]. (biomedcentral.com)
  • In neonates with congenital hyperinsulinism, fetal hyperinsulinemia increases the storage of glucose and lipids with a consequent hyperplasia and hypertrophy of myocardial cells. (biomedcentral.com)
  • 1 The localized and HIV-associated lipodystrophies are the most common while genetic and other acquired lipodystrophies are rare. (omjournal.org)
  • Renal complications are frequent causes of death in the congenital form. (medscape.com)
  • Inheritance of the congenital form has been recognized as autosomal recessive with heterozygotes manifesting only hyperlipemia. (medscape.com)
  • A decline in the intraregional marriage rate and inbreeding in the 6 adjacent municipalities of southwestern Norway where the congenital form is observed may account for the lack of new cases. (medscape.com)
  • Children are usually diagnosed congenital hydrocele, adults - acquired. (medicalformat.com)
  • Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. (nih.gov)
  • Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. (medlineplus.gov)
  • 4. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy. (nih.gov)
  • 14. Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease. (nih.gov)
  • Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE , extreme INSULIN RESISTANCE , and HYPERTRIGLYCERIDEMIA . (bvsalud.org)
  • The presence of pericardial fat was also found, representing a previously undescribed adipose depot in generalized lipodystrophy. (elsevierpure.com)
  • Lipodystrophy is characterized by either an abnormal reduction or abnormal increase in adipose tissue around certain parts of the body. (prescriptionhope.com)
  • Lipodystrophy is a fairly rare condition in which adipose tissue (fat tissue) is abnormally distributed. (prescriptionhope.com)
  • Familial Partial Lipodystrophy - Progressive loss of adipose tissue from various parts of the body, including the arms and legs. (prescriptionhope.com)
  • Localized Lipodystrophy - This is the loss of subcutaneous adipose tissue from small regions of the body. (prescriptionhope.com)
  • Mutations in the AGPAT2 , BSCL2 , CAV1 , and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. (medlineplus.gov)
  • 2. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (nih.gov)
  • Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy. (medscape.com)
  • These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular. (bvsalud.org)
  • This form of lipodystrophy is believed to be caused by mutations in one's genes. (prescriptionhope.com)
  • Dysregulation of lipid storage in LDs leads to metabolic diseases in human, such as congenital generalized lipodystrophy, which is caused by mutations in the Seipin gene. (edu.hk)
  • The safety and effectiveness of MYALEPT for the treatment of complications of partial lipodystrophy have not been established. (nih.gov)
  • Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. (nih.gov)
  • Clinical Effects of Sodium-Glucose Transporter Type 2 Inhibitors in Patients With Partial Lipodystrophy. (nih.gov)
  • Endogenous Leptin Concentrations Poorly Predict Metreleptin Response in Patients With Partial Lipodystrophy. (nih.gov)
  • Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis. (nih.gov)
  • Effects of Metreleptin on Patient Outcomes and Quality of Life in Generalized and Partial Lipodystrophy. (nih.gov)
  • Progressive lipodystrophy is the most common type of partial lipodystrophy. (medscape.com)
  • [ 2 , 3 ] Acquired partial lipodystrophy is a rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities beginning during childhood and is more common in girls. (medscape.com)
  • However, some forms of partial lipodystrophy in children do not seem to fit the diagnostic criteria for any of the established lipodystrophy subset. (medscape.com)
  • Model of the adipocyte destruction in acquired partial lipodystrophy showing complement activation at the adipocyte surface resulting in adipocyte lysis. (medscape.com)
  • 5. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation. (nih.gov)
  • 8. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (nih.gov)
  • 13. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (nih.gov)
  • A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy. (aku.edu)
  • Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. (wikipedia.org)
  • It is part of a group of diseases known as lipodystrophies. (nih.gov)
  • 19. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (nih.gov)
  • Lipodystrophy is a very rare, inherited, genetic condition, with a prevalence of about one to five cases/million.1 Research shows that one gene from a parent can cause it, or one gene from each parent can also cause it. (endocrinology-centers.com)
  • 3. Towards a mechanistic understanding of lipodystrophy and seipin functions. (nih.gov)
  • 7. Seipin ablation in mice results in severe generalized lipodystrophy. (nih.gov)
  • There are a few different types of lipodystrophy, some of which are more common than others. (prescriptionhope.com)
  • The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. (nih.gov)
  • Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from the subcutaneous compartment and occasionally from visceral fat. (medscape.com)
  • There are a number of different lipodystrophy syndromes. (definithing.com)
  • Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. (eurospe.org)
  • Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only 'cosmetically accepted' genitalia but also normally functioning. (eurospe.org)
  • Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. (eurospe.org)
  • General obesity not associated with congenital leptin deficiency. (nih.gov)
  • Lipodystrophy is a leptin deficiency - that's the hormone that tells your body you've eaten enough and to start creating insulin. (endocrinology-centers.com)
  • It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. (wikipedia.org)
  • For example, in addition to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the arms and legs after puberty. (medlineplus.gov)
  • Each type of lipodystrophy presents its own symptoms that vary with the severity of the patient's case. (endocrinology-centers.com)
  • Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. (medlineplus.gov)
  • If you're having irregular periods and growing excessive body hair, or diabetes you may have inherited lipodystrophy, an extremely rare genetic disorder that causes low body fat. (endocrinology-centers.com)
  • There are numerous forms of lipodystrophy that are genetic (inherited) or acquired (not inherited). (definithing.com)
  • La identificación de pacientes con riesgo de susceptibilidad hereditaria al cáncer depende de la capacidad de caracterizar genes y alteraciones asociadas con un mayor riesgo de cáncer, así como de recopilar antecedentes personales y familiares detallados que ayuden a identificar el modo de herencia, así como a otros miembros de la familia en riesgo de sufrir esta susceptibilidad. (igenomix.com)
  • In conclusion, these findings advance the lipotoxicity hypothesis as a putative underlying mechanism for the dramatic concentric LV hypertrophy found in generalized lipodystrophy. (elsevierpure.com)
  • Most of the features of the congenital form may occur, but in the acquired form, neurologic, cardiac, and renal abnormalities usually are absent. (medscape.com)
  • Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. (eurospe.org)
  • At a glance, lipodystrophy may appear only to be a cosmetic problem, but other health complications can arise from this condition. (prescriptionhope.com)
  • Progressive lipodystrophy is a rare condition that typically affects children and young adults. (medscape.com)
  • Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. (bvsalud.org)
  • Generalized lipodystrophies are easily detected clinically and are usually diagnosed by paediatricians because of the characteristic features from birth onwards. (medscape.com)
  • Some of them are present at birth (congenital), and others are acquired later. (definithing.com)
  • People with congenital generalized lipodystrophy have a distinctive physical appearance. (medlineplus.gov)
  • Lipodystrophy produces a distinctive facies. (medscape.com)