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.

Post-traumatic anterior pituitary insufficiency developed in a patient with partial lipodystrophy. (1/317)

A case of partial lipodystrophy developing anterior pituitary insufficiency, chronic glomerulonephritis and pulmonary fibrosis was reported. The patient died of respiratory failure secondary to pituitary crisis during the hospital course. From the clinical course in recent several years and the postmortem examination the head injury following car accident in the past history was considered to be the most plausible cause of hypopituitarism. The etiology of pulmonary fibrosis remained unresolved.  (+info)

Measurement of intracellular triglyceride stores by H spectroscopy: validation in vivo. (2/317)

We validate the use of 1H magnetic resonance spectroscopy (MRS) to quantitatively differentiate between adipocyte and intracellular triglyceride (TG) stores by monitoring the TG methylene proton signals at 1.6 and 1.4 ppm, respectively. In two animal models of intracellular TG accumulation, intrahepatic and intramyocellular TG accumulation was confirmed histologically. Consistent with the histological changes, the methylene signal intensity at 1.4 ppm increased in both liver and muscle, whereas the signal at 1.6 ppm was unchanged. In response to induced fat accumulation, the TG concentration in liver derived from 1H MRS increased from 0 to 44.9 +/- 13.2 micromol/g, and this was matched by increases measured biochemically (2.1 +/- 1.1 to 46.1 +/- 10.9 micromol/g). Supportive evidence that the methylene signal at 1.6 ppm in muscle is derived from investing interfascial adipose tissue was the finding that, in four subjects with generalized lipodystrophy, a disease characterized by absence of interfacial fat, no signal was detected at 1.6 ppm; however, a strong signal was seen at 1.4 ppm. An identical methylene chemical shift at 1.4 ppm was obtained in human subjects with fatty liver where the fat is located exclusively within hepatocytes. In experimental animals, there was a close correlation between hepatic TG content measured in vivo by 1H MRS and chemically by liver biopsy [R = 0.934; P <.0001; slope 0.98, confidence interval (CI) 0.70-1.17; y-intercept 0.26, CI -0.28 to 0. 70]. When applied to human calf muscle, the coefficient of variation of the technique in measuring intramyocellular TG content was 11.8% in nonobese subjects and 7.9% in obese subjects and of extramyocellular (adipocyte) fat was 22.6 and 52.5%, respectively. This study demonstrates for the first time that noninvasive in vivo 1H MRS measurement of intracellular TG, including that within myocytes, is feasible at 1.5-T field strengths and is comparable in accuracy to biochemical measurement. In addition, in mixed tissue such as muscle, the method is clearly advantageous in differentiating between TG from contaminating adipose tissue compared with intramyocellular lipids.  (+info)

Identification of nephritic factor as an immunoglobulin. (3/317)

C3 nephritic factor (C3NeF) activity in sera from three patients with mesangiocapillary glomerulonephritis, one of whom had partial lipodystrophy, was found on chromatography to be associated with fractions containing IgG and no other detectable proteins. Immunoadsorption of IgG from these fractions with a highly purified anti-IgG removed the C3NeF, and the IgG, eluted after combination with the anti-IgG, retained C3NeF activity. In each case the isolated IgG with C3NeF activity was found to contain more than one subclass of IgG and both kappa and lambda chains, indicating that the immunoglobulin comprising C3NeF in these patients is heterogeneous and not monoclonal. The identification of C3NeF as an immunoglobulin suggests that it may be an autoantibody against antigenic determinants of complement components present in the C3 convertase of the alternative pathway.  (+info)

Diabetes, insulin resistance and dyslipidaemia in lipodystrophic HIV-infected patients on highly active antiretroviral therapy (HAART). (4/317)

This study assessed glucose tolerance, insulin sensitivity and lipid parameters in HIV-infected patients presenting with lipodystrophy during HAART including protease inhibitors. Fourteen consecutive patients from Rothschild Hospital treated with HAART and presenting with marked facial lipoatrophy were evaluated. A 75 g oral glucose tolerance test (OGTT) with measurement of plasma glucose, insulin, proinsulin and free fatty acids at T0, 30, 60, 90 and 120 min was performed. Lipid parameters (triglycerides, cholesterol, apolipoproteins A1 and B) were studied as well as nutritional and inflammatory markers (albumin, prealbumin, transferrin, haptoglobin, orosomucoid, C-reactive protein), endocrine and cytokine parameters (thyrotropin, cortisol, leptin, interleukin-6), HIV viral load and CD4-lymphocyte count. These patients were compared with 20 non-lipodystrophic protease inhibitor-treated patients. The measurements performed during OGTT showed that among the 14 lipodystrophic patients, 11 (79%) presented with diabetes (5 patients) or normal glucose tolerance but with insulin resistance (6 patients). This frequency was strikingly different in the group of nonlipodystrophic patients, which included only 4 (20%) presenting with diabetes (1 patient), or impaired glucose tolerance (2 patients), or normal glucose tolerance but with insulin resistance (1 patient). Hypertriglyceridaemia was present in 11 lipodystrophic (79%) versus 7 nonlipodystrophic patients (35%). Nutritional and endocrine measurements were normal. An abnormal processing of proinsulin to insulin was excluded. Thus, lipodystrophy during HAART was associated with diabetes, insulin resistance and hypertriglyceridaemia. Diabetes, diagnosed by basal and/or 120 min-OGTT glycaemia, seems more frequent than previously described. The therapeutic consequences of these results deserve evaluation in clinical trials.  (+info)

Bioelectrical impedance analysis in HIV-infected patients treated with triple antiretroviral treatment. (5/317)

BACKGROUND: Triple antiretroviral treatment including protease inhibitors (PIs) delays the clinical progression of HIV infection and may thus reduce the risk of malnutrition. However, fat redistribution (lipodystrophy) was recognized recently as a metabolic side effect of PIs. OBJECTIVE: The study aimed to assess the effect of triple antiretroviral treatment on body composition and on the prevalence of malnutrition. DESIGN: Two cross-sectional studies, 1 in 1996 (t96; n = 247) and 1 in 1997 (t97; n = 266), were conducted in HIV-infected outpatients. Among patients who participated in both studies, 111 patients started a new antiretroviral treatment including a PI between t96 and t97 and were studied longitudinally. Total body water (TBW), intracellular water (ICW), extracellular water (ECW), and fat mass were estimated by monofrequency bioelectrical impedance analysis (BIA). RESULTS: Prevalence of malnutrition was reduced by 30-50% from t96 to t97, depending on the definition used. In the longitudinal study, TBW and the ratio between ICW and ECW increased and fat mass decreased (P < 0.001). BIA indicated a greater increase in ICW in 23 (21%) patients with clinically apparent fat redistribution than in patients without this syndrome, but estimates of fat mass changes were not significantly different. CONCLUSIONS: Triple antiretroviral treatment may protect HIV-infected patients against the development of malnutrition. Whole-body BIA data suggest an increase in appendicular body cell mass associated with improved antiretroviral treatment. However, the method is unreliable in detecting fat redistribution, and current prediction equations will need to be recalibrated for HIV-infected patients receiving highly active antiretroviral treatment.  (+info)

PPAR gamma is required for placental, cardiac, and adipose tissue development. (6/317)

The nuclear hormone receptor PPAR gamma promotes adipogenesis and macrophage differentiation and is a primary pharmacological target in the treatment of type II diabetes. Here, we show that PPAR gamma gene knockout results in two independent lethal phases. Initially, PPAR gamma deficiency interferes with terminal differentiation of the trophoblast and placental vascularization, leading to severe myocardial thinning and death by E10.0. Supplementing PPAR gamma null embryos with wild-type placentas via aggregation with tetraploid embryos corrects the cardiac defect, implicating a previously unrecognized dependence of the developing heart on a functional placenta. A tetraploid-rescued mutant surviving to term exhibited another lethal combination of pathologies, including lipodystrophy and multiple hemorrhages. These findings both confirm and expand the current known spectrum of physiological functions regulated by PPAR gamma.  (+info)

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. (7/317)

Patients with Dunnigan-type familial partial lipodystrophy (FPLD) are born with normal fat distribution, but after puberty experience regional and progressive adipocyte degeneration, often associated with profound insulin resistance and diabetes. Recently, the FPLD gene was mapped to chromosome 1q21-22, which harbours the LMNA gene encoding nuclear lamins A and C. Mutations in LMNA were shown to underlie autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD), which is characterized by regional and progressive skeletal muscle wasting and cardiac effects. We hypothesized that the analogy between the regional muscle wasting in EDMD-AD and the regional adipocyte degeneration in FPLD, in addition to its chromosomal localization, made LMNA a good candidate gene for FPLD. DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles ( P = 1.1 x 10(-13)). This is the first report of a mutation underlying a degenerative disorder of adipose tissue and suggests that LMNA mutations could underlie other diseases characterized by tissue type- and anatomical site-specific cellular degeneration.  (+info)

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. (8/317)

Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and trunk but by excess fat deposition in the head and neck. The disease is frequently associated with profound insulin resistance, dyslipidemia, and diabetes. We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been proposed that nuclear lamin A/C is altered in FPLD, on the basis of a novel missense mutation (R482Q) in five Canadian probands. This gene had previously been shown to be altered in autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) and in dilated cardiomyopathy and conduction-system disease. We examined 15 families with FPLD for mutations in lamin A/C. Five families harbored the R482Q alteration that segregated with the disease phenotype. Seven families harbored an R482W alteration, and one family harbored a G465D alteration. All these mutations lie within exon 8 of the lamin A/C gene-an exon that has also been shown to harbor different missense mutations that are responsible for EDMD-AD. Mutations could not be detected in lamin A/C in one FPLD family in which there was linkage to chromosome 1q21-q23. One family with atypical FPLD harbored an R582H alteration in exon 11 of lamin A. This exon does not comprise part of the lamin C coding region. All mutations in FPLD affect the globular C-terminal domain of the lamin A/C protein. In contrast, mutations responsible for dilated cardiomyopathy and conduction-system disease are observed in the rod domain of the protein. The FPLD mutations R482Q and R482W occurred on different haplotypes, indicating that they are likely to have arisen more than once.  (+info)

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.

Localized lipodystrophy HIV-associated lipodystrophy Congenital lipodystrophy (due to inherited genetic defect) is estimated to ... Lipodystrophy UK is a dedicated UK charity set up to support people affected by Lipodystrophy. March 31 is observed as the ... Lipodystrophy United is an American organization founded and run by lipodystrophy patients to support each other and raise ... Lipodystrophy can be a possible side effect of antiretroviral drugs. Other lipodystrophies manifest as lipid redistribution, ...
... is a skin condition characterized by the loss of subcutaneous fat localized to sites of insulin ... injection.: 497 Lipodystrophy List of cutaneous conditions Skin lesion James, William D.; Berger, Timothy G.; et al. (2006). ...
Lipodystrophy List of cutaneous conditions "Orphanet: Familial partial lipodystrophy". www.orpha.net. Retrieved 27 April 2019. ... Familial partial lipodystrophy, also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition characterized ... Garg A (2011). "Clinical review#: Lipodystrophies: genetic and acquired body fat disorders". J. Clin. Endocrinol. Metab. 96 (11 ... A single complex Agpat2 allele in a patient With partial lipodystrophy. Front Physiol 9:1363. doi: 10.3389/fphys.2018.01363. ( ...
... (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 ... ISBN 978-0-7216-2921-6. "Lipodystrophy Disorders - Inherited Lipodystrophies - NORD Physician Guides - Rare Disease Resources ...
... (CIL) is a condition of abnormal fat deposition caused by corticosteroid medications. Fat ...
... is a skin condition characterized by areas of subcutaneous fat loss that slowly enlarge.: ... 496-7 Lipodystrophy List of cutaneous conditions Skin lesion Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ...
Reversion of lipodystrophy does not occur after withdrawal of protease inhibitors. Drug-induced lipodystrophy Lipodystrophy ... HIV-associated lipodystrophy is a condition characterized by loss of subcutaneous fat associated with infection with HIV.: 497 ... In addition, patients develop abdominal obesity.[citation needed] The exact mechanism of HIV-associated lipodystrophy is not ... February 2001). "Risk of lipodystrophy in HIV-1-infected patients treated with protease inhibitors: a prospective cohort study ...
Although HIV- or drug-induced lipodystrophy are a type of acquired lipodystrophy, its origin is very specific and distinct ... 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 ... While low leptin levels are helpful for making the diagnosis, they are not specific for the lipodystrophy. High leptin levels ...
... is a cutaneous condition that presents as one or multiple depressed areas (i.e. indentations), ... HIV-associated lipodystrophy Lipoatrophia semicircularis List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; ...
Familial partial lipodystrophy Priscilla Lopes-Schliep Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic ... Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form ... Köbberling, J; Dunnigan, M (1986). "Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the ... October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". The American Journal of Gastroenterology. ...
... (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 ... In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean ... Based on visual inspection, it was originally thought that the lipodystrophy associated with MPL was generalized. However, it ...
See also: Lipodystrophy. Lipodystrophy Lumps or small dents in the skin that form when a person keeps injecting the needle in ... See also: Lipodystrophy; injection site rotation. Insulin pen An insulin injection device the size of a pen that includes a ...
"FDA approves Egrifta to treat Lipodystrophy in HIV patients". U.S. Food and Drug Administration. 2010-11-10. Retrieved 2013-09- ... Mauss S, Schmutz G (July 2001). "[HIV-lipodystrophy syndrome]". Medizinische Klinik. 96 (7): 391-401. doi:10.1007/PL00002220. ... Food and Drug Administration approval in 2010 for the treatment of lipodystrophy in HIV patients under highly active ...
6 December 2012). Lipodystrophy Syndrome in HIV. Springer. ISBN 9781461504719. "Sherwood Leslie Gorbach, MD". Tufts University ...
Lipodystrophy Orphan Drug Program. Amylin Pharmaceuticals. U.S. Food and Drug Administration (25 February 2014). "FDA approves ... in patients with congenital generalized or acquired generalized lipodystrophy. Metraleptin was originally developed at Amylin ...
CAV1 Lipodystrophy, congenital generalized, type 4; 613327; PTRF Lipodystrophy, familial partial; 151660; LMNA Lipodystrophy, ... LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; BSCL2 ... familial partial, type 3; 604367; PPARG Lipodystrophy, partial, acquired; 608709; LMNB2 Lipoid adrenal hyperplasia; 201710; ... MLYCD Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24 Mandibuloacral dysplasia; 248370; LMNA Mannosidosis ...
... was under investigation for the treatment of lipodystrophy and growth hormone deficiency and reached phase II clinical ... ConjuChem (August 2006). "Patient Died in Lipodystrophy Drug Study". Archived from the original on 2017-11-06. Retrieved 2015- ...
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann-Rautenstrauch syndrome, since the Marfanoid ... April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end ... "OMIM Entry - #616914 - Marfan Lipodystrophy Syndrome ; MFLS". Online Mendelian Inheritance in Man (OMIM). Retrieved 2016-12-06 ...
Patients with Marfan-progeroid-lipodystrophy syndrome typically exhibit congenital lipodystrophy and a neonatal progeroid ... Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K (2013). "Severe congenital lipodystrophy and a ... "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Retrieved 2016-12-06. Hirai, M; Ohbayashi, T; Horiguchi ... Other features include skeletal alterations (osteolysis, osteoporosis), amyotrophy (wasting of muscle), lipodystrophy and skin ...
Marfanoid-progeroid-lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS ... April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end ... "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Archived from the original on 2018-11-30. Retrieved 2016 ... November 2010). "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift ...
HIV-associated lipodystrophy Drug-induced lipodystrophy Hanna, Leslie. "Body Fat Changes: More than Lipodystrophy." Bulletin of ... BFR is distinct from lipodystrophy, which simply refers to fat loss. Treatment of symptoms may include cosmetic surgery such as ...
They found mutations in the FBN1 gene in two patients with congenital partial lipodystrophy and a progeroid appearance. The two ... Individuals with Marfanoid-progeroid-lipodystrophy syndrome (MPL) are deficient in asprosin due to mutations affecting the ... "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Retrieved 2016-12-06. (Protein pages needing a picture, ... Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions". primary. Molecular Genetics and Metabolism ...
Subsequently, in addition to autoimmune diseases the PSMB8 protein also has been linked in the diagnosis of lipodystrophy ... They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis, and Nakajo-Nishimura ... Garg A (Nov 2011). "Clinical review#: Lipodystrophies: genetic and acquired body fat disorders". The Journal of Clinical ... "A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans". The Journal of Clinical ...
Patel A, Gandhi H, Upaganlawar A (April 2011). "Tesamorelin: A hope for ART-induced lipodystrophy". Journal of Pharmacy & ... which is used in the treatment of HIV-associated lipodystrophy, approved initially in 2010. It is produced and developed by ... a review of its use in the management of HIV-associated lipodystrophy". Drugs. 71 (8): 1071-91. doi:10.2165/11202240-000000000- ... rationale for use in the treatment of HIV-associated lipodystrophy". BioDrugs. 22 (2): 101-12. doi:10.2165/00063030-200822020- ...
These findings affirm a new primary form of inherited lipodystrophy and emphasize on the severe metabolic consequences of a ... February 2011). "Perilipin deficiency and autosomal dominant partial lipodystrophy". The New England Journal of Medicine. 364 ( ...
... familial chylomicronemia syndrome and familial partial lipodystrophy. The drug was discovered and developed by Ionis ...
This work led to FDA approval of Tesamorelin as the only such approved drug for HIV lipodystrophy and first in class molecule. ... This work was initiated by an observation of reduced GH secretion in HIV patients with lipodystrophy. Subsequent studies ... analogue to increase endogenous GH secretion on lipodystrophy and generalized obesity, which led to the FDA approval of ... Identification of key genes and proteins leading to dysfunctional subcutaneous adipose tissue in HIV Lipodystrophy 2021 (JCI ...
This has been termed corticosteroid-induced lipodystrophy. Due to the diversion of amino-acids to glucose, they are considered ...
Other possible conditions are hypertriglyceridemia and lipodystrophy. Other novel mutations resulting in the syndrome have also ... in 2010 and titled Joint contractures, Muscular Atrophy, Microcytic anemia, and Panniculitis-induced Lipodystrophy (JMP) ... Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal ... and panniculitis-associated lipodystrophy". The Journal of Clinical Endocrinology and Metabolism. Endocrine Society. 95 (9): ...
497 It is a form of lipodystrophy. Lipoatrophia semicircularis List of cutaneous conditions James, William D.; Berger, Timothy ...
Localized lipodystrophy HIV-associated lipodystrophy Congenital lipodystrophy (due to inherited genetic defect) is estimated to ... Lipodystrophy UK is a dedicated UK charity set up to support people affected by Lipodystrophy. March 31 is observed as the ... Lipodystrophy United is an American organization founded and run by lipodystrophy patients to support each other and raise ... Lipodystrophy can be a possible side effect of antiretroviral drugs. Other lipodystrophies manifest as lipid redistribution, ...
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Explore ... Familial partial lipodystrophy can be caused by mutations in several genes. Type 2 results from mutations in the LMNA gene. The ... Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. Type 2 is the most ... pancreatitis). Familial partial lipodystrophy can also cause an abnormal buildup of fats in the liver. (hepatic steatosis), ...
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, ... Progressive lipodystrophy is the most common type of partial lipodystrophy.. The other types, such as the Kobberling-Dunnigan ... Progressive lipodystrophy is 4-5 times more common in women than in men. Of patients with progressive lipodystrophy, 80% are ...
Increasing levels of growth hormone may be an effective treatment for HIV lipodystrophy Increasing the bodys production of ... Research provides better understanding of lipodystrophies disorders More than a decade of work conducted by UT Southwestern ... abdominal fat deposits and improved blood pressure and triglyceride levels in a group of patients with HIV lipodystrophy, a ... growth hormone may be an effective treatment for HIV lipodystrophy, a syndrome involving the redistribution of fat and other ...
Generalized lipodystrophy results in fat loss throughout the entire body. Partial lipodystrophy results in fat loss typically ... Lipodystrophy is a group of rare diseases that share in common the selective loss of fat tissue from the body. Patients ... The partial lipodystrophy study participants underwent two liver biopsies, one at the beginning of the trial and after one year ... Study: Liver Responds Positively to Leptin Treatment in Patients with Lipodystrophy. Michigan Medicine researchers explore ...
... nurses and a full support staff at Tufts Medical Center in Boston treat Lipodystrophy. ... Lipodystrophy is a condition of abnormal or uncontrolled loss of fat tissue in the body. ... lipodystrophy & lipatrophy of the head, face and neck, Mohs reconstruction, cleft lip and palate, trauma and craniofacial ...
CONCLUSIONS: HIV-associated lipodystrophy is associated with several host, disease, and drug factors. While prevalence of ... Clinical assessment of HIV-associated lipodystrophy in an ambulatory population. Lichtenstein, KA., Ward, DJ., Moorman, AC., ... Clinical assessment of HIV-associated lipodystrophy in an ambulatory population. AIDS, 15(11), 1389-1398. ...
On August 10, Massachusetts Governor Charlie Baker signed into law An Act Relative to HIV-Associated Lipodystrophy Syndrome ... Home » Governor Baker Signs Historic Law Requiring Treatment for HIV-Associated Lipodystrophy ...
Anti-inflammatory effects on body composition and metabolic alterations in HIV lipodystrophy: a pilot study - (10/17/06). ...
E88.1 - Lipodystrophy, not elsewhere classified. SNOMEDCT:. 713693008 - Lipodystrophy caused by antiretroviral drug ... Drug-induced lipodystrophy Print Images (25) Contributors: Khanyisile Dladla MBChB, FCDerm, Anisa Mosam MBChB, MMed, FCDerm, ... Lipodystrophy can develop within months to 2 years after the initiation of ART, with changes in limb and waist circumference ... Drug-induced lipodystrophy in patients with HIV on ART is associated with metabolic complications, an increased risk of ...
... and liver function tests in children and adolescents with lipodystrophy during a 12-month period. ... 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, ... Progressive lipodystrophy is the most common type of partial lipodystrophy.. The other types, such as the Kobberling-Dunnigan ... Progressive lipodystrophy is 4-5 times more common in women than in men. Of patients with progressive lipodystrophy, 80% are ...
Cytokine Dysregulation & Lipodystrophy Lipodystrophy in patients with HIV-1 infection: effect of stopping protease inhibitors ... Perspectives on Lipodystrophy: What have we learned about the cause?. B. Maher 1 , J. Lloyd 1 , E.G.L. Wilkins 3 , W.D. Fraser ... Ten patients with lipodystrophy were studied while on PIs and 3. months after stopping PIs. In addition, 10 HIV subjects on PIs ... Its possible that the dysregulation which might lead to lipodystrophy could be due to HIV or HIV therapy or both. Its also ...
... under clinical development by Regeneron Pharmaceuticals and currently in Phase II for Acquired Generalized Lipodystrophy ( ... 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 ...
... and Transcription in Fibroblasts from Patients with Emery-Dreifuss Muscular Dystrophy and Familial Partial Lipodystrophy R.J. ... and Transcription in Fibroblasts from Patients with Emery-Dreifuss Muscular Dystrophy and Familial Partial Lipodystrophy. Clin ...
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 ... They include generalized, localized, congenital, and acquired lipodystrophy. Examples HIV-Associated Lipodystrophy Syndrome ...
This resource is for informational purposes only, intended as a quick-reference tool based on the cited source guideline(s), and should not be used as a substitute for the independent professional judgment of healthcare providers. Practice guidelines are unable to account for every individual variation among patients or take the place of clinician judgment, and the ultimate decision concerning the propriety of any course of conduct must be made by healthcare providers after consideration of each individual patient situation. Guideline Central does not endorse any specific guideline(s) or guideline recommendations and has not independently verified the accuracy hereof. Any use of this resource or any other Guideline Central resources is strictly voluntary.. ...
Download our HIV-Associated Lipodystrophy newsletter for more insights by filling up a simple form towards your right and get ... HIV-Associated Lipodystrophy. HIV-associated lipodystrophy (HAL), is a condition characterized by the redistribution of adipose ... HIV-Associated Lipodystrophy. Know more of whats latest in HIV-associated lipodystrophy care. ... Know more about the HIV-associated lipodystrophy treatment landscape, signs and symptoms, and diagnosis through our newsletter. ...
We can help by spreading this message and connecting Lipodystrophy patients with help. Please click my link to help out. ... People with lipodystrophy experience an uncontrolled loss of fat tissue, especially fat under the skin. Lipodystrophy United ... Many people with Familial Partial Lipodystrophy do not know that they have it until later in life when it starts to severely ... A Support group for people with ANY form of Lipodystrophy. Our mission is to inspire, empower, support and educate each other ...
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, ... No medical treatment for progressive partial lipodystrophy has proven effective. However, leptin replacement in lipodystrophy ... encoded search term (Progressive Lipodystrophy) and Progressive Lipodystrophy What to Read Next on Medscape ...
Acquired generalized lipodystrophy (AGL) is a rare disorder characterized by the sudden and progressive loss of fat from the ... The symptoms of Acquired generalized lipodystrophy include:. -Fat loss from the arms, legs, and face. -Enlarged liver and ... The exact cause of acquired generalized lipodystrophy is unknown. However, it is believed to be caused by an autoimmune ... It has been found to be effective in treating Acquired Generalized Lipodystrophy (AGL) by increasing insulin sensitivity and ...
o2worldnews.com - Kalau kondisi medis dari penyakit Diabetes asma bahkan hipertensi tentu saja kita semua akan sudah sering sekali mendengarnya, .... ...
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, ... Progressive lipodystrophy is the most common type of partial lipodystrophy.. The other types, such as the Kobberling-Dunnigan ... Progressive lipodystrophy is 4-5 times more common in women than in men. Of patients with progressive lipodystrophy, 80% are ...
Losing Lipodystrophy Visceral Abdominal Fat Hello group, My name is Osiris. Im new here. I was diagnosed with Lipodystrophy ... Finally doctors found I had Lipodystrophy, but with none of the usual conditions that cause it... ... In his presentation, Grinspoon covered HIV lipodystrophy, which occurs in about 25% of HIV-infected patients... ... discusses the molecular and clinical implications of visceral adipose tissue accumulation in lipodystrophy. ...
1. Congenital Generalized Lipodystrophy (Berardinelli-Seip Syndrome). 2. Familial Partial Lipodystrophy. Type 1. Type 2. Other ... Classification of Lipodystrophy Syndromes Familial or Genetic Types. 1. Congenital generalized lipodystrophy (Berardinelli-Seip ... The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy, an autosomal recessive disorder ... Acquired partial lipodystrophy is a rare condition with approximately 250 described patients of various ethnic origins.[3] This ...
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team ...
Living with Lipodystrophy , Becky Smith. Today we speak with Becky, who has Familial Partial Lipodystrophy. Becky shares her ... Would you like to share your story about Lipodystrophy?. How to share your story Do you have a story about Lipodystrophy to ...
Lipodystrophy Syndrome. Lipodystrophy Syndrome is a disease that occurs when theres an abnormal distribution of fat in the ... Patients suffering from lipodystrophy may undergo liposuction as recommended by their doctors in order to improve the patients ... 9] By Melissa Conrad Strppler, MD, edited by William C. Shiel Jr., MD, Lipodystrophy Definition and Facts, in MedicineNet, ...
Familial partial lipodystrophy Köbberling type is a very rare form of familial partial lipodystrophy (FPLD; see this term) of ... Familial partial lipodystrophy, Köbberling type. Synonyms: FPLD1 , Familial partial lipodystrophy type 1 ... Familial partial lipodystrophy, Köbberling type?. Our RARE Concierge Services Guides are available to assist you by providing ... Familial partial lipodystrophy, Köbberling type. Get in touch with RARE Concierge.. Contact RARE Concierge ...
Information on Lipodystrophy, familial partial, type 5, which may include symptoms, causes, inheritance, treatments, orphan ... Dont fight Lipodystrophy, familial partial, type 5 alone.. Find your community on the free RareGuru App. Connect with other ... Familial partial lipodystrophy can be caused by a change (mutation) in one of several genes. These genes are responsible for ... Dont fight Lipodystrophy, familial partial, type 5 alone!. Find your community on the free RareGuru App. Connect with ...
  • Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. (nih.gov)
  • Familial partial lipodystrophy can be caused by a change in one of several genes. (nih.gov)
  • When Do Symptoms of Familial partial lipodystrophy Begin? (nih.gov)
  • Volanesorsen is an Apo-CIII inhibitor that is currently being investigated as a potential therapeutic to reduce hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study. (wikipedia.org)
  • Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. (medlineplus.gov)
  • In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. (medlineplus.gov)
  • Some people with familial partial lipodystrophy develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. (medlineplus.gov)
  • Researchers have described at least six forms of familial partial lipodystrophy, which are distinguished by their genetic cause. (medlineplus.gov)
  • The most common form of familial partial lipodystrophy is type 2, also called Dunnigan disease. (medlineplus.gov)
  • Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. (medlineplus.gov)
  • Women tend to be diagnosed with familial partial lipodystrophy more often than men, probably because a loss of fat from the hips and limbs is more easily recognized in women, and complications such as diabetes and hypertriglyceridemia occur more commonly in women. (medlineplus.gov)
  • Familial partial lipodystrophy can be caused by mutations in several genes. (medlineplus.gov)
  • LMNA and the other genes associated with familial partial lipodystrophy provide instructions for making proteins with a variety of functions, including important roles in fat storage. (medlineplus.gov)
  • Mutations in any of the genes associated with familial partial lipodystrophy reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. (medlineplus.gov)
  • In some people with familial partial lipodystrophy, no gene mutations have been found. (medlineplus.gov)
  • Familial Partial Lipodystrophy - Progressive loss of adipose tissue from various parts of the body, including the arms and legs. (prescriptionhope.com)
  • Five cases were reported but the phenotype resembles Dunnigan-type familial partial lipodystrophy rather than classic APL. (medscape.com)
  • Fat loss may be restricted to only small areas (localized), on the upper and lower extremities (in familial partial lipodystrophies), on the upper half of the body including the face, neck, upper extremities, chest and sometimes abdomen (acquired partial lipodystrophy), or all over the body (generalized lipodystrophies). (mhmedical.com)
  • The medicine is used in: adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip syndrome and Lawrence syndrome) and in adults and children above the age of 12 years with partial lipodystrophy (including Barraquer-Simons syndrome), when standard treatments have failed. (wikipedia.org)
  • Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. (medlineplus.gov)
  • 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)
  • Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. (nih.gov)
  • BSCL2 mutations are associated with Berardinelli-Seip congenital lipodystrophy and a clinical re-evaluation of affected individuals confirmed the diagnosis.Conclusions: Exome sequencing is a powerful technique for the identification of candidate gene variants in Mendelian traits. (aku.edu)
  • 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)
  • The signs and symptoms of congenital generalized lipodystrophy are usually apparent from birth or early childhood. (medlineplus.gov)
  • People with congenital generalized lipodystrophy have a distinctive physical appearance. (medlineplus.gov)
  • Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. (medlineplus.gov)
  • 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)
  • Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. (medlineplus.gov)
  • Mutations in the AGPAT2 , BSCL2 , CAV1 , and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. (medlineplus.gov)
  • Congenital Generalized Lipodystrophy - Nearly a total loss of fatty tissue and extreme muscular definition that is present at birth. (prescriptionhope.com)
  • Metreleptin therapy in the United States is approved only for patients with congenital generalized lipodystrophy (CGL) or acquired generalized lipodystrophy (AGL). (mhmedical.com)
  • A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy. (aku.edu)
  • They carried monoallelic PPARG variants except a homozygous patient with congenital generalized lipodystrophy . (bvsalud.org)
  • Lipodystrophy is characterized by selective loss of adipose tissue, which leads to low levels of the adipocyte-derived hormone, leptin. (nih.gov)
  • 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)
  • Localized Lipodystrophy - This is the loss of subcutaneous adipose tissue from small regions of the body. (prescriptionhope.com)
  • Lipodystrophy refers to the loss of adipose tissue. (medscape.com)
  • Cellulite, or more correctly lipodystrophy, is a modification of the adipose tissue, whereby the fat lobules are swollen as the result of a disturbed blood and lymph micro-circulation and fibrosclerose of connective tissue. (nih.gov)
  • 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)
  • The presence of pericardial fat was also found, representing a previously undescribed adipose depot in generalized lipodystrophy. (elsevierpure.com)
  • Lipodystrophies: disorders of adipose tissue biology. (nih.gov)
  • [ 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)
  • Rotate injection sites to reduce the risk of lipodystrophy and localized cutaneous amyloidosis. (nih.gov)
  • There are a few different types of lipodystrophy, some of which are more common than others. (prescriptionhope.com)
  • In contrast with their occurrence in other types of lipodystrophy, diabetes and impaired glucose tolerance are found only rarely in APL, being reported in 6.7% and 8.9% of patients, respectively. (medscape.com)
  • Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. (wikipedia.org)
  • Leptin replacement therapy with human recombinant leptin metreleptin has been shown to be an effective therapy to alleviate the metabolic complications associated with lipodystrophy, and has been approved by the FDA for the treatment of generalized lipodystrophy syndromes. (wikipedia.org)
  • Hussain I, Garg A. Lipodystrophy Syndromes. (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)
  • [ 5 ] mental retardation and retinal disease are among the syndromes that also are associated with acquired partial lipodystrophy. (medscape.com)
  • University of Michigan Metabolism, Diabetes and Endocrinology Division has emerged as a leader in the treatment of lipodystrophy syndromes due to Dr. Oral's longstanding clinical interests in this condition. (combigene.com)
  • Garg A. Lipodystrophies: genetic and acquired body fat disorders. (medscape.com)
  • Lipodystrophy is actually a group of disorders with disparate origins but with a common set of metabolic consequences. (nih.gov)
  • Mainly, lipodystrophy can lead to metabolic disorders, such as insulin resistance, leading to diabetes. (prescriptionhope.com)
  • Acquired Generalized Lipodystrophy - Selective loss of subcutaneous fatty tissue that occurs only in the extremities (legs, arms, palms, etc. (prescriptionhope.com)
  • Acquired generalized lipodystrophy in a young lean Chinese girl. (nel.edu)
  • This form of lipodystrophy is believed to be caused by mutations in one's genes. (prescriptionhope.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)
  • Leptin hormone replacement therapy for patients with lipodystrophy reduces food intake and ameliorates these metabolic complications. (nih.gov)
  • However, it is not known whether leptin improves metabolic complications of lipodystrophy solely via reductions in food intake, or if it has food-intake independent effects. (nih.gov)
  • Recently, three marfanoid patients with congenital lipodystrophy and a neonatal progeroid appearance were reported. (elsevierpure.com)
  • In Europe based on EMA, metreleptin should be used in addition to diet to treat lipodystrophy, where patients have loss of fatty tissue under the skin and build-up of fat elsewhere in the body such as in the liver and muscles. (wikipedia.org)
  • Based on these clinical studies, metreleptin (Myalept), the first recombinant leptin analog, was approved by the FDA in 2014 to treat patients with generalized lipodystrophy. (nih.gov)
  • In other countries such as in Japan and Europe, metreleptin is also approved for patients with partial lipodystrophies in poor metabolic control. (mhmedical.com)
  • Liposuction (surgical removal of fat) and injectable facial fillers are sometimes used to treat lipodystrophy. (nih.gov)
  • In some cases, rotation of the injection sites may not be enough to prevent lipodystrophy. (wikipedia.org)
  • It's essential to rotate injection sites to prevent lipodystrophy (changes in fat distribution) and ensure consistent absorption. (prescriptiongiant.com)
  • Acquired partial lipodystrophy (APL) also known as Barraquer-Simons syndrome or cephalothoracic lipodystrophy, is one of the rare forms of lipodystrophy. (medscape.com)
  • From pathogenesis to treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE), a rare type I iFN-mediated autoinflammatory disease / Gina Montealegre, Chyi-Chia Richard Lee, Raphaela Goldbach-Mansky. (nih.gov)
  • however, it is commonest in patients on long-term treatment and those on protease inhibitor (PI) regimens.1,2 We present a rare case of atypical lipodystrophy, presenting as multiple subcutaneous lipomas, in a patient who had been on a non-PI ART regimen for 6 weeks. (sajhivmed.org.za)
  • At a glance, lipodystrophy may appear only to be a cosmetic problem, but other health complications can arise from this condition. (prescriptionhope.com)
  • Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. (medscape.com)
  • Lipodystrophy can either be genetic or acquired, and can be generalized (near total lack of fat) or partial (fat loss in certain parts of the body). (nih.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)
  • 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)
  • Additional studies may include blood tests for genetic studies of lipodystrophy, a muscle biopsy to study muscle proteins involved in regulating energy expenditure before and after leptin replacement, and examination of a surgical specimen (if available) to study molecules that may be involved in energy storage and use. (nih.gov)
  • This study will evaluate the safety and effectiveness of leptin replacement therapy in patients with lipodystrophy (also called lipoatrophy). (nih.gov)
  • If a single mechanism lies behind lipoatrophy and lipohypertrophy, Carr explained at the Lipodystrophy Workshop in Dublin, the analysis should show (1) that as limb fat increases, visceral fat decreases, and (2) similar risk factors for lipoatrophy and decreasing visceral fat. (natap.org)
  • In patients with lipodystrophy, leptin therapy increases insulin sensitivity independent of its effects on food intake. (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)
  • Generalized lipodystrophy results in extreme forms of diabetes, insulin resistance, triglyceride elevation, and fatty liver disease, all of which complicate treatment and can lead to significant morbidity and mortality. (nih.gov)
  • Lipodystrophies is a really rare group of diseases characterized by altered body fat amount and/or repartition and serious insulin resis. (nel.edu)
  • Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype . (arizona.edu)
  • Here, we report on a girl born prematurely who exhibited severe congenital lipodystrophy and a neonatal progeroid appearance. (elsevierpure.com)
  • A review of similar, recently reported patients revealed that the cardinal features of these patients include (1) congenital lipodystrophy, (2) premature birth with an accelerated linear growth disproportionate to the weight gain, and (3) a progeroid appearance with distinct facial features. (elsevierpure.com)
  • We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome. (elsevierpure.com)
  • Patients must be instructed to perform continuous rotation of the injection site to reduce the risk of developing lipodystrophy and cutaneous amyloidosis. (medicines.ie)
  • Using this experience and knowledge, they identified a patient population-people with lipodystrophy-who could potentially benefit from leptin treatment. (nih.gov)
  • To explore this, we studied 22 patients with lipodystrophy during periods with and without leptin treatment, with food intake held constant in both conditions. (nih.gov)
  • Professor Ormond MacDougald's new experimental model, which was published in the journal Diabetes in June 2021 has several characteristics that are similar to partial lipodystrophy in humans, the disorder that CombiGene is targeting with their CGT2 therapy. (combigene.com)
  • Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy. (medscape.com)
  • Mutations in one or more of these proteins cause a variety of diseases including Emery-Dreifuss muscular dystrophy (EDMD), cardiomyopathy, lipodystrophy and diabetes, and accelerated aging. (hopkinsmedicine.org)
  • Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. (tokushima-u.ac.jp)
  • While lipodystrophy is characterized by the loss of fatty tissue in certain areas of the body, tissues such as liver and muscle exhibit significant abnormal accumulation of fat, which impairs metabolic activity. (nih.gov)
  • 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)
  • Lipodystrophy can include buildup of body fat, loss of body fat, or both. (nih.gov)
  • Progressive lipodystrophy is a rare condition that typically affects children and young adults. (medscape.com)
  • Lipodystrophy is a rare disease in which patients lack body fat and fat-derived hormones, such as leptin. (nih.gov)
  • The goal of the CGT2 project is to develop a gene therapy treatment for partial lipodystrophy, a rare disease characterized by altered fat distribution on the body. (combigene.com)
  • The Department of Clinical Biochemistry in the Royal Free Hospital, alongside the Department of Pharmacology, The Institute of Biomedical Statistics and Infectious and Tropical Diseases, all at the University of Belgrade in Serbia, therefore launched a study to determine the relationship between levels of interleukins in HIV/AIDS patients and the presence or lack of lipodystrophy. (randox.com)
  • Professor MacDougald and his clinical collaborator, Dr. Elif Oral, have an entire team working within the lipodystrophy field and their extensive knowledge and technical expertise will benefit CombiGene's CGT2 project. (combigene.com)
  • We describe the clinical features of 28 patients with juvenile dermatomyositis (JDM) and 1 patient with adult-onset dermatomyositis (DM), all of whom developed lipodystrophy (LD) that could be categorized into 1 of 3 phenotypes, generalized, partial, or focal, based on the pattern of fat loss distribution. (lvhn.org)
  • The precise pathophysiology of fat loss in acquired partial lipodystrophy (APL) is unclear. (medscape.com)
  • Acquired partial lipodystrophy usually begins in childhood, at a median age of 7 years. (medscape.com)
  • Among heterozygous patients aged 16 or more (n = 24), 92% had diabetes, 96% partial lipodystrophy (median age at diagnosis 24 and 37 years), 78% hypertriglyceridaemia, 71% liver steatosis , and 58% hypertension . (bvsalud.org)
  • Lipodystrophy can be a possible side effect of antiretroviral drugs. (wikipedia.org)
  • More and more, there are indications that specific antiretroviral agents may not explain everything that occurs under the umbrella of alterations termed "lipodystrophy. (medscape.com)
  • Antiretroviral Therapy-Induced Lipodystrophy - This form has been associated with therapy for treating HIV-1, including protease inhibitors. (prescriptionhope.com)
  • Targeted treatment of leptin deficiency in lipodystrophy represents a major medical advance in the treatment of an unusual and otherwise difficult-to-treat disease. (nih.gov)
  • Those studies allowed hypotheses to be formed regarding the pathogenesis of lipodystrophy, setting the stage for the hypothesis-testing studies and treatment trials presented at this year's meeting. (medscape.com)
  • It is the first and, so far, only treatment indicated for the reduction of excess abdominal fat in patients with HIV-associated lipodystrophy. (nih.gov)
  • While this condition isn't a medical emergency or typically fatal, getting lipodystrophy diagnosed or ruled out is important to begin creating a treatment plan. (endocrinology-centers.com)
  • Myalept is an FDA-approved treatment for lipodystrophy that uses the hormone leptin to suppress appetite and increase fat-burning. (endocrinology-centers.com)
  • ALIDYA The first injection specifically indicated for the treatment of cellulite (PEFS, lipodystrophy). (medicalbeautycenter.se)
  • Lipodystrophy is not a concern for most people who start HIV treatment now, because newer HIV medicines are less likely to cause lipodystrophy. (nih.gov)
  • If you have lipodystrophy, talk to your health care provider about treatment options. (nih.gov)
  • In this article, we will discuss everything you need to know about lipodystrophy, including the types, causes, and treatment options. (prescriptionhope.com)
  • Lipodystrophy is a disorder in which the body's distribution of fat undergoes serious changes. (randox.com)
  • People with lipodystrophy can suffer from the build-up, the loss, or the redistribution of body fat and HIV/AIDS patients often suffer from the disorder. (randox.com)
  • People who have HIV sometimes develop lipodystrophy, an abnormal distribution of body fat. (healthwise.net)
  • This issue discusses lipodystrophy and HIV, including causes and treatments for abnormal changes such as visceral fat and hard belly. (poz.com)
  • Your doctor can suggest treatments for lipodystrophy. (healthwise.net)
  • There are currently a few symptom-relieving treatments for lipodystrophy, but no therapy that targets the root cause of the disease. (combigene.com)
  • For patients suffering from partial lipodystrophy, there are currently no treatments at all. (combigene.com)
  • Other lipodystrophies manifest as lipid redistribution, with excess, or lack of, fat in various regions of the body. (wikipedia.org)
  • have treated more than 100 lipodystrophy patients with leptin replacement therapy, resulting in dramatic improvements in diabetes, lipid levels, and quality of life. (nih.gov)
  • Alidya is a complex solution specifically designed for repristinare paraphysiological and physiological changes related to the genesis and the evolution of gynoid lipodystrophy (cellulite). (medicalbeautycenter.se)