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.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism. (1/27)

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

Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (2/27)

The Dunnigan-type familial partial lipodystrophy (FPLD) is characterized by a variable loss of fat from the extremities and trunk and excess subcutaneous fat in the chin and supraclavicular area. Associated metabolic abnormalities include hypoleptinemia, insulin resistance, and dyslipidemia. Our goal was to observe changes in metabolic parameters for patients with FPLD on long-term leptin replacement and to compare the metabolic characteristics seen in FPLD with those seen in generalized lipodystrophy (GL) from our previous studies. This was an open-label study of 6 patients with FPLD receiving maximal doses of oral antidiabetic and lipid-lowering medications at baseline. Recombinant leptin was given through twice-daily subcutaneous injections at a maximal dose of 0.08 mg/kg per day over 12 months to simulate normal to high normal physiologic levels. Triglycerides were reduced by 65% at 4 months (749+/-331 to 260+/-58 mg/dL) and significantly reduced at 12 months for 5 patients (433+/-125 to 247+/-69 mg/dL; P=.03). Total cholesterol also decreased (280+/-49 to 231+/-41 mg/dL; P=.01). Insulin sensitivity and fasting glucose levels (190+/-26 to 151+/-15 mg/dL; P<.01) improved. Glucose tolerance and glycosylated hemoglobin levels (8.4%+/-0.6% to 8.0%+/-0.4%; P=.07) did not change. As shown in patients with GL, patients with FPLD have improvement in triglycerides, fasting glucose, and insulin sensitivity with leptin replacement. In contrast to the patients with GL, the patients with FPLD are older, have higher leptin levels, and notably lower insulin secretion for a similar degree of hyperglycemia. Low-dose recombinant methionyl human leptin for patients with FPLD has an important role in improving triglycerides, beyond that of available lipid-lowering agents. In improving glycemic control, normalization of glucose tolerance in hypoinsulinemic patients with FPLD requires insulin and leptin therapy. This is the first study to examine the effects of long-term leptin replacement in patients with FPLD.  (+info)

A pathogenic mechanism leading to partial lipodistrophy and prospects for pharmacological treatment of insulin resistance syndrome. (3/27)

The understanding of a common complex phenotype such as insulin resistance can be favoured by evaluation of monogenic syndromes. Clinical definition, pathogenesis, and therapeutical strategies for the insulin resistance syndrome can thus be improved by the characterization at the molecular genetic level of monogenic forms of lipodystrophies. Here we report experimental evidence on the pathogenic mechanism underlying insulin resistance in a rare form of laminopathy, due to mutation of the LMNA gene coding for lamin A/C, the Dunnigan-type familial partial lipodystrophy (FPLD). The defect, consisting in the intranuclear accumulation of mutant unprocessed precursors of lamin A, reduces the amount of the DNA-bound adipocyte transcription factor sterol regulatory element binding protein 1 (SREBP1) and lowers the peroxisome proliferator-activated receptor (PPARgamma) expression, causing the impairment of pre-adipocyte differentiation. The treatment with the PPARgamma ligand troglitazone (TDZ) is able to rescue the adipogenic program. Since FPLD recapitulates the essential metabolic abnormalities of the common insulin resistance syndrome, the beneficial effects of TDZ on monogenic lipodystrophies might provide a clue as to the future treatment strategies also for the common syndrome of insulin resistance.  (+info)

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. (4/27)

Mutations in the LMNA gene cause various phenotypes including partial lipodystrophy, muscular dystrophies, and progeroid syndromes. The specific mutation position within the LMNA sequence can partially predict the phenotype, but the underlying mechanisms for the development of these different phenotypes are still unclear. To investigate whether different DNA methylation patterns contribute to the development of different phenotypes caused by LMNA mutations, we analyzed a panel of ten candidate genes related to fat metabolism, aging, and a tendency to different methylation patterns: CSPG2, ESR1, IGF1R, IGFR2, LMNA, MLH1, RANBP1, RARB, ZMPSTE24, and TGFBR1. We studied two independent families each comprising three individuals affected by familial partial lipodistrophy type 2 (FPLD2). Affected members in each family carried two different mutations of the LMNA gene (R482L and R471G respectively). In addition, we analyzed four progeria patients (2xLMNA/C G608G, 1xLMNA/C S143F, and 1xZMPSTE24 IVS9-Ex10) and seven healthy adults. The gene encoding retinoic acid receptor B (RARB) showed a higher methylation in all six patients with FPLD2 when compared with the progeria patients with other LMNA mutations as well as the healthy controls (P<0.05). All other investigated genes showed no difference in the methylation patterns between the groups. A drug-induced inhibition of the retinol pathway is discussed as the key pathway for developing HAART-associated lipodystrophy and our data support a possible role of the retinol pathway in the development of lipodystrophy phenotypes.  (+info)

Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence. (5/27)

Lipodystrophic syndromes associated with mutations in LMNA, encoding A-type lamins, and with HIV antiretroviral treatments share several clinical characteristics. Nuclear alterations and prelamin A accumulation have been reported in fibroblasts from patients with LMNA mutations and adipocytes exposed to protease inhibitors (PI). As genetically altered lamin A maturation also results in premature ageing syndromes with lipodystrophy, we studied prelamin A expression and senescence markers in cultured human fibroblasts bearing six different LMNA mutations or treated with PIs. As compared to control cells, fibroblasts with LMNA mutations or treated with PIs had nuclear shape abnormalities and reduced proliferative activity that worsened with increasing cellular passages. They exhibited prelamin A accumulation, increased oxidative stress, decreased expression of mitochondrial respiratory chain proteins and premature cellular senescence. Inhibition of prelamin A farnesylation prevented cellular senescence and oxidative stress. Adipose tissue samples from patients with LMNA mutations or treated with PIs also showed retention of prelamin A, overexpression of the cell cycle checkpoint inhibitor p16 and altered mitochondrial markers. Thus, both LMNA mutations and PI treatment result in accumulation of farnesylated prelamin A and oxidative stress that trigger premature cellular senescence. These alterations could participate in the pathophysiology of lipodystrophic syndromes and lead to premature ageing complications.  (+info)

New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand. (6/27)

PURPOSE: Familial partial lipodystrophy caused by mutations in the PPARG gene is characterised by altered distribution of subcutaneous fat, muscular hypertrophy and symptoms of metabolic syndrome. PPARG encodes peroxisome proliferator-activated receptor (PPAR)gamma, a nuclear hormone receptor playing a crucial role in lipid and glucose metabolism and in several other cellular regulatory processes. METHODS: PPARG was screened for mutations by direct sequencing in two patients with lipodystrophy, one unaffected family member and 124 controls. Body composition was examined in affected patients, and they were investigated for abnormalities in laboratory results. Functional analysis of the mutant protein was assessed by determining transcriptional activity and possible interference with the wild-type protein. RESULTS: In two patients with familial partial lipodystrophy, we identified a nucleotide substitution in the PPARG gene. This mutation results in the substitution of aspartate by asparagine at residue 424 (D424N) in the ligand-binding domain of PPARgamma. The unaffected family member and all 124 controls did not carry this mutation. D424N PPARgamma had a significantly lower ability than wild-type PPARgamma to activate a PPARgamma-stimulated reporter gene, but did not exert a negative effect on the wild-type protein. Partial activation of D424N PPARgamma was achieved in the presence of the agonist rosiglitazone. CONCLUSION: We report a new PPARG mutation, D424N, which is located in the ligand-binding domain of the protein and leads to familial partial lipodystrophy. D424N PPARgamma exhibited a loss of function, which was partially restored by adding the PPARgamma agonist rosiglitazone, suggesting possible treatment potential of this agent.  (+info)

Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report. (7/27)

A 25 year old woman consulted for a severe acanthosis nigricans and central distribution of fat. Her masculine type morphology was associated with muscular appearance of the limbs and excess fat deposits in the face and neck. Biological testing confirmed glucose intolerance associated with a severe insulin resistance, hypertriglyceridemia and polycystic ovary syndrome. The detection of a heterozygous missense mutation in LAMIN A/C gene at position 482 confirmed the diagnosis of Familial Partial Lipodystrophy (FPLD2). Due to a deterioration of clinical and metabolic status, 15 and then 30 mg per day of pioglitazone were added to her previous treatment with metformin, bezafibrate and omega-3 fatty acids. Metabolic status improved rapidly after 3 months and continued thereafter. Weight remained stable, body mass composition and waist circumference improved. After 18 months of treatment, glycaemia and triglycerides levels normalized, hepatic enzymes and liver echographic features improved. Insulin sensitivity improved dramatically with a HOMA % S value of 73% with metformin and of 98.2% when pioglitazone was added. Leptin levels increased from 6.6 to 10.2 microg/ml. We report a very rapid and good efficacy of pioglitazone added to metformin without side effects in FPLD2. If confirmed on more patients, early use of pioglitazone in association with metformin could be proposed in FPLD2.  (+info)

Resistance to high-fat diet-induced obesity but exacerbated insulin resistance in mice overexpressing preadipocyte factor-1 (Pref-1): a new model of partial lipodystrophy. (8/27)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

HIV infection has three stages:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The symptoms of panniculitis may include:

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

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

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

There are several methods for measuring body composition, including:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

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 ... "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care. 26 (6): 1819-24. doi:10.2337/ ... A single complex Agpat2 allele in a patient With partial lipodystrophy. Front Physiol 9:1363. doi: 10.3389/fphys.2018.01363. ( ...
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. ...
... familial chylomicronemia syndrome and familial partial lipodystrophy. The drug was discovered and developed by Ionis ... Familial chylomicronaemia syndrome (FCS) (also known as type I hyperlipoproteinaemia) is an inherited disease where people have ... Volanesorsen was effective in reducing triglycerides in the blood in a study of 67 participants with familial chylomicronemia ... Volanesorsen is indicated as an adjunct to diet in adults with genetically confirmed familial chylomicronemia syndrome (FCS) ...
495-7 Congenital lipodystrophy syndromes Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) Familial partial ... "The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy - Full ... "Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome". Endocrine. 54 (2): 411-421. doi:10.1007/s12020- ... dermatosis with lipodystrophy and elevated temperature syndrome Acquired lipodystrophy syndromes Acquired partial lipodystrophy ...
... such as familial partial lipodystrophy. They are also used to assess adiposity in children, especially to conduct clinical ... "Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome". Endocrine. 54 (2): 411-421. doi:10.1007/s12020- ... "Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort". Clin. Endocrinol. (Oxf). 86 (5): 698- ... From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers". Diabetes Care. 41 (10): ...
Both genetic (e.g., Berardinelli-Seip congenital lipodystrophy, Dunnigan familial partial lipodystrophy) and acquired (e.g., ... HIV-related lipodystrophy in people treated with highly active antiretroviral therapy) forms of lipodystrophy may give rise to ...
"Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety". The Journal of Clinical ... In some forms of lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though the ...
"Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety". The Journal of Clinical ... and lipodystrophy. The muscle hypertrophy may persist throughout the course of the disease, or may later atrophy, or become ... In lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though the muscles are ...
Lipodystrophy Familial partial lipodystrophy List of cutaneous conditions Skin lesion Seipin "Congenital Generalized ... Congenital generalized lipodystrophy (also known as Berardinelli-Seip lipodystrophy) is an extremely rare autosomal recessive ... Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli ... ISBN 978-0-7216-2921-6. "Lipodystrophy Disorders - Inherited Lipodystrophies - NORD Physician Guides - Rare Disease Resources ...
"Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy". Human Molecular ... Agarwal AK, Kazachkova I, Ten S, Garg A (December 2008). "Severe mandibuloacral dysplasia-associated lipodystrophy and progeria ...
"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy". Hum. Mol. Genet. 9 (1 ... In 2006, lamin B2 missense mutations were identified in patients with acquired partial lipodystrophy. The most common mutation ... "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am J Hum ... "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. ...
Familial partial lipodystrophy Congenital generalized lipodystrophy Iglesias P, Alvarez Fidalgo P, Codoceo R, Díez J (2004). " ... Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs ...
"Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac ... Lopes-Schliep has the LMNA R482W gene mutation, and was diagnosed with Dunnigan-type Lipodystrophy. The diagnosis came from DIY ... The results confirmed Dunnigan-type Lipodystrophy, and alerted Lopes-Schliep to a potential pancreatitis attack due to the high ...
... congenital or familial), and generalized or partial. Both acquired or inherited lipodystrophy present as loss of adipose ... symptoms and is not intended to use for patients with HIV-related lipodystrophy or complications of partial lipodystrophy. ... Although HIV- or drug-induced lipodystrophy are a type of acquired lipodystrophy, its origin is very specific and distinct ... tissue is termed generalized lipodystrophy while the selective loss of adipose tissues is denoted as partial lipodystrophy. ...
Mutations in this gene can lead to several diseases besides Malouf syndrome, such as familial partial lipodystrophy, limb ... Malouf noted that this disease may be familial as the two sisters were children of first degree cousins. In 1992, Kouji ... However, the prevalence of familial dilated cardiomyopathy ranges from 30 to 50% cases, with 40% having an identifiable genetic ...
"eMedicine - Lipodystrophy, Progressive". Retrieved 2013-05-03. Griffing, George T. "eMedicine- Acquired Partial Lipodystrophy ... A genetic workup should be performed if the familial form of lipodystrophy is suggested. Laboratory work for associated ... 2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. ... Several case reports have revealed an association between acquired partial lipodystrophy and other diseases.[citation needed] ...
... cholestasis syndrome Familial cold autoinflammatory syndrome Familial Mediterranean fever Familial partial lipodystrophy ... FACES syndrome Facet syndrome Facial Onset Sensory Motor Neuropathy syndrome Fahr's syndrome Failed back syndrome familial ... disease Marden-Walker syndrome Mare reproductive loss syndrome Marfan syndrome Marfanoid-progeroid-lipodystrophy syndrome Marie ... plus syndrome Paroxysmal hand hematoma Paroxysmal tachycardia Parry-Romberg syndrome Parsonage-Turner syndrome Partial androgen ...
Cytophagic histiocytic panniculitis Drug-induced lipodystrophy Factitial panniculitis Familial partial lipodystrophy ( ... acquired partial lipodystrophy, cephalothoracic lipodystrophy, progressive lipodystrophy) Benign symmetric lipomatosis (benign ... Familial benign chronic pemphigus (familial benign pemphigus, Hailey-Hailey disease) Fanconi syndrome (familial pancytopenia, ... Familial defective apolipoprotein B-100 Familial dysbetalipoproteinemia (broad beta disease, remnant removal disease) Familial ...
PTRF Lipodystrophy, familial partial; 151660; LMNA Lipodystrophy, familial partial, type 3; 604367; PPARG Lipodystrophy, ... PTHR1 Familial cold autoinflammatory syndrome 2; 611762; NALP12 Familial Mediterranean fever, AD; 134610; MEFV Familial ... familial, 3A; 604403; SCN1A Febrile convulsions, familial, 3B; 604403; SCN9A Febrilel, convulsions, familial; 611277; GABRG2 ... familial, 3; 607554; KCNQ1 Atrial fibrillation, familial, 4; 611493; KCNE2 Atrial fibrillation, familial, 6; 612201; NPPA ...
The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National ... benign familial MeSH C20.188.413.480 - hydrops fetalis MeSH C20.188.413.502 - kernicterus MeSH C20.543.206.380 - drug eruptions ... hiv-associated lipodystrophy syndrome MeSH C20.673.480.480 - hiv enteropathy MeSH C20.673.480.500 - hiv seropositivity MeSH ... familial MeSH C20.111.258.750.800 - polyradiculoneuropathy, chronic inflammatory demyelinating MeSH C20.111.258.850 - stiff- ...
The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National ... benign familial MeSH C17.800.882.712 - sebaceous gland neoplasms MeSH C17.800.882.743 - sweat gland neoplasms MeSH C17.800. ... HIV-associated lipodystrophy MeSH C17.800.849.495 - necrobiosis lipoidica MeSH C17.800.849.617 - porphyrias MeSH C17.800. ... benign familial MeSH C17.800.827.730 - porokeratosis MeSH C17.800.827.738 - porphyria, erythropoietic MeSH C17.800.827.742 - ...
... progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies". Metabolism. 64 (11): 1530-40 ... July 2014). "New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis". Human Molecular ... partial characterization of physical properties". Biochemistry. 19 (10): 2096-101. doi:10.1021/bi00551a015. PMID 7378348. Lee ... Familial Cancer. 14 (3): 437-48. doi:10.1007/s10689-015-9803-2. PMC 4559173. PMID 25860647. Zuo Y, Deutscher MP (March 2001). " ...
... in familial iron deficiency anemia refractory to oral iron". Haematologica. 93 (10): 1473-1479. doi:10.3324/haematol.13342. ... recapitulating the species specificity for LPS partial structures. It was deduced that direct contact between TLR4 and LPS is a ... extrinsic features of the teeny lipodystrophy syndrome". Proceedings of the National Academy of Sciences of the United States ...
  • Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. (rareguru.com)
  • 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)
  • Lipodystrophy, the abnormal distribution of fat, encompasses lipoatrophy, the loss of fat, and other abnormalities of adipose tissue. (medscape.com)
  • Lipodystrophies are categorized based on etiology (genetic or acquired) and distribution of lost adipose tissue, affecting the entire body (generalized) or only regions (partial). (medscape.com)
  • Lipodystrophy, lack of adipose tissue, is also associated with insulin resistance. (cambridge.org)
  • In lipodystrophy there is insufficient adipose tissue to absorb the postprandial influx of fatty acids, so these fatty acids will again be directed to other tissues. (cambridge.org)
  • Under physiological conditions, the main- PPARγ mutation has been shown to link to familial partial lipody- tenance of normal adipose tissue mass is mainly the result of a strophy, a clinical disorder characterized by the loss of adipose balance of lipid storage and lipolysis (Bouchard et al. (deepdyve.com)
  • Human lipodystrophies: genetic and acquired diseases of adipose tissue. (medscape.com)
  • Adachi M, Asakura Y, Muroya K, Goto H, Kigasawa H. Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy. (medscape.com)
  • The main subtypes of familial lipodystrophies are congenital generalized lipodystrophy, an autosomal recessive disorder characterized by near complete lack of metabolically active adipose tissue from birth, and familial partial lipodystrophy, Dunnigan type, an autosomal dominant disorder characterized by loss of subcutaneous fat from the extremities at puberty and excess fat accumulation in the face and neck. (medscape.com)
  • Familial partial lipodystrophy can be caused by a change (mutation) in one of several genes. (rareguru.com)
  • The hot-spot lamin A R482W mutation causing familial partial lipodystrophy of Dunnigan-type (FPLD2), affects lamin A association with chromatin at the nuclear periphery and in the nuclear interior, and is associated with 3-dimensional (3D) rearrangements of chromatin. (frontiersin.org)
  • I'm lucky that I'm one of the healthier ones with lipodystrophy," said Stratton, who has the most common mutation. (massbio.org)
  • Gao J, Li Y, Fu X, Luo X. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. (medscape.com)
  • Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. (lookfordiagnosis.com)
  • Patients suffering from lipodystrophies experience reduced body fat, severe insulin resistance, hypertriglyceridemia, and hypoleptinemia, and nonalcoholic fatty liver disease. (medscape.com)
  • These processes to severe lipodystrophy and induces insulin resistance in mice (He et al. (deepdyve.com)
  • The four major subtypes of LD, congenital generalized LD, acquired generalized LD, familial partial LD and acquired partial LD were studied. (empr.com)
  • Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. (medscape.com)
  • Patients with acquired generalized lipodystrophy have generalized loss of subcutaneous fat, but those with acquired partial lipodystrophy have fat loss limited to the face, trunk, and upper extremities. (medscape.com)
  • [ 3 ] This variety (like acquired generalized lipodystrophy) occurs approximately 3 times more often in women, begins during childhood, and has underlying autoimmunity. (medscape.com)
  • Familial partial lipodystrophy, also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. (wikipedia.org)
  • An estimated 1-5 million individuals in the United States have a lipodystrophy syndrome, but accurate data are difficult to obtain owing to the rarity of these conditions. (medscape.com)
  • Partial lipodystrophy it is commonly misdiagnosed as Cushing's or mistaken as problems associated with polycystic ovarian syndrome or metabolic syndrome while the rest of the health problems are ignored. (massbio.org)
  • Waylivra is the only treatment for familial chylomicronemia syndrome (FCS) in Brazil. (constantcontact.com)
  • Caramaschi P, Biasi D, Lestani M, Chilosi M. A case of acquired partial lipodystrophy associated with POEMS syndrome. (medscape.com)
  • Gardner's syndrome (also known as Gardner syndrome , familial polyposis of the colon , [1] or familial colorectal polyposis [2] ) is a subtype of familial adenomatous polyposis (FAP). (wikipedia.org)
  • Gardner syndrome is also associated with familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum. (wikipedia.org)
  • WAYLIVRA is under regulatory review for the treatment of familial chylomicronemia syndrome, or FCS, and is currently in Phase 3 clinical development for the treatment of people with familial partial lipodystrophy, or FPL. (ean.org)
  • The most common form of familial partial lipodystrophy is type 2, also called Dunnigan disease. (medlineplus.gov)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • The Dunnigan-type familial partial lipodystrophy is characterized by a variable loss of fat in the extremities and trunk and excess subcutaneous fat in the chin and supraclavicular area. (idsi.md)
  • Connect with other caregivers and patients with Lipodystrophy, familial partial, type 5 and get the support you need. (rareguru.com)
  • Context: Leptin replacement therapy improves metabolic complications in patients with lipodystrophy and severe hypoleptinemia (SH), but whether the response is related to the degree of hypoleptinemia remains unclear. (elsevierpure.com)
  • Most patients with lipodystrophy have markedly increased appetites. (massbio.org)
  • Haque WA, Shimomura I, Matsuzawa Y, Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. (medscape.com)
  • Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. (medscape.com)
  • Owing to its rarity in male patients, we are presenting the case of acquired partial lipodystrophy in a 12-year-old boy with a granular accumulation of C 3 in the basement membrane on skin biopsy. (medscape.com)
  • Acquired partial lipodystrophy is a rare condition with approximately 250 described patients of various ethnic origins. (medscape.com)
  • The incidence is 0.1-0.3% of all post Roux-en-Y gastric bypass patients. (bioscientifica.com)
  • With the prevalence of obesity increasing and more patients turning to Roux-en-Y gastric bypass, more patients may be at risk of this potential surgical complication. (bioscientifica.com)
  • The lipodystrophy syndromes are a heterogeneous group of syndromes characterized by selective loss of fat from various parts of the body. (medscape.com)
  • Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. (medscape.com)
  • The complement abnormalities of lipodystrophy. (medscape.com)
  • Complement abnormalities in acquired lipodystrophy revisited. (medscape.com)
  • A rare genetic disorder, familial partial lipodystrophy causes a drop in an important hormone called leptin that helps to regulate energy balance by inhibiting hunger. (massbio.org)
  • Bristol-Myers Squibb and AstraZeneca announced the results from a 12-month sub-group analysis of a National Institutes of Health (NIH), open-label, long-term research study of metreleptin, an investigational human hormone leptin analogue for the treatment of metabolic disorders associated with inherited or acquired lipodystrophy (LD). (empr.com)
  • A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. (nih.gov)
  • [ 1 ] Other acquired subtypes include a localized lipodystrophy seen in injection drug users. (medscape.com)
  • It advocates and acts as a catalyst for new patient diagnosis by assisting healthcare professionals in the understanding of lipodystrophy trends, physical attributes and clinical symptoms in order to aid in the advancement of knowledge, treatment and future research. (massbio.org)
  • In this report, we present clinical and genetic features of a woman with familial partial lipodystrophy type 2, diagnosed due to development of the diabetes mellitus. (idsi.md)
  • Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. (medscape.com)
  • Some people with familial partial lipodystrophy develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. (medlineplus.gov)
  • In some people with familial partial lipodystrophy, no gene mutations have been found. (medlineplus.gov)
  • [3] This gene is also mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. (wikipedia.org)
  • It is determined by the autosomal dominant familial polyposis coli gene (APC) on chromosome 5 . (wikipedia.org)
  • 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)
  • Newly diagnosed with Familial partial lipodystrophy, Köbberling type? (globalgenes.org)
  • In addition, when diabetes occurs with lipodystrophy, it has many features of type 2. (ccjm.org)
  • 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)
  • Search for new genes related to familial partial Lipodystrophy and its pathogenetical mechanisms. (uetem.com)
  • Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)
  • Cardiac phenotype in familial partial lipodystrophy. (nih.gov)
  • Senp2 knockout mice exhibited a lipodystrophy-like phenotype. (deepdyve.com)
  • Enfermedades de distrofia neuromuscular y muscular congénita asociadas a mutaciones en la LAMINA DE TIPO A (gen lamina A/C o LMNA). (bvsalud.org)
  • Mandibuloacral dysplasia (MAD) is a rare disorder combining a characteristic facial appearance with acro-osteolysis and lipodystrophy. (bmj.com)
  • Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (mpg.de)
  • Cite this: Acquired Partial Lipodystrophy Associated With Hypocomplementemia - Medscape - Sep 01, 2005. (medscape.com)
  • In addition, PTC submitted an application to the Brazilian Health Regulatory Agency, Agência Nacional de Vigilância Sanitária (ANVISA), for approval of Waylivra for the treatment of familial partial lipodystrophy (FPL). (constantcontact.com)
  • Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. (efim.org)
  • Lipodystrophies: windows on adipose biology and metabolism. (medscape.com)
  • Today, Stratton is co-founder and president of Lipodystrophy United, an organization of committed individuals living with lipodystrophy. (massbio.org)
  • The receptors bind to common DNA elements containing a partial palindrome of the core sequence 5'-TGTTCT-3' with a 3bp spacer. (umbc.edu)
  • Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. (medlineplus.gov)
  • Some people with lipodystrophy may have areas on their body that look very thin, while other areas might appear large. (massbio.org)
  • Acquired partial lipodystrophy is a rare condition with onset in childhood or adolescence. (medscape.com)
  • Affected individuals have a normal appearance at birth, then progressively develop lipodystrophy and dysmorphic craniofacial and skeletal features. (bmj.com)

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