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)
Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE.
A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.
A genus of gram-positive bacteria in the family Cellulomonadaceae.
Class of BACTERIA with diverse morphological properties. Strains of Actinobacteria show greater than 80% 16S rDNA/rRNA sequence similarity among each other and also the presence of certain signature nucleotides. (Stackebrandt E. et al, Int. J. Syst. Bacteriol. (1997) 47:479-491)
A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and kidneys. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against neutrophil proteinase-3 (WEGENER AUTOANTIGEN).
Infections with bacteria of the order ACTINOMYCETALES.
The act of "taking account" of an object or state of affairs. It does not imply assessment of, nor attention to the qualities or nature of the object.
The largest of the TARSAL BONES which is situated at the lower and back part of the FOOT, forming the HEEL.
A common name for fish of the family Percidae, belonging to the suborder Percoidei, order PERCIFORMES.
Agents used to treat RETROVIRIDAE INFECTIONS.
Ruminants of the family Bovidae consisting of Bubalus arnee and Syncerus caffer. This concept is differentiated from BISON, which refers to Bison bison and Bison bonasus.
A potent and specific HIV protease inhibitor that appears to have good oral bioavailability.

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)

Lipodystrophies are disorders of adipose tissue (fat) characterized by selective loss of fat from various parts of the body. There are several different types of lipodystrophies and the degree of fat loss may vary from very small depressed areas to near complete absence of adipose tissue. The extent of fat loss may determine the severity of metabolic complications related to insulin resistance, such as diabetes mellitus and high levels of serum triglycerides. Some patients may have only cosmetic problems while others may also have severe metabolic complications.. Inherited lipodystrophies are caused by mutations (alterations or blips) in a gene. Several genes responsible for different types of inherited lipodystrophies have been identified. These include AGPAT2 (1-acylglycerol-3-phosphate-O-acyltransferase 2), BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) in Congenital Generalized Lipodystrophy (CGL), Lamin A/ C (LMNA) gene in Familial Partial Lipodystrophy Dunnigan variety (Familial ...
Cardiomyopathy - Generalised lipodystrophy Factor. Last reviewed for CCPS 18 July 2007.. Preliminary questions [38164]. 38165 [1] there is some evidence that generalised lipodystrophy may be a factor in the development or worsening of the condition under consideration.. 38166 [1] the veteran has had generalised lipodystrophy at some time.. 38532 - generalised lipodystrophy means a rare disturbance of fat metabolism that may be inherited (primary) or acquired (secondary).. 38169 - the veteran has established the causal connection between generalised lipodystrophy and VEA service for cardiomyopathy.. 38167 [2] the veteran had the identified illness or injury, a type of generalised lipodystrophy, at the time of the clinical onset of the condition under consideration.. 38170 - the veteran has established the causal connection between generalised lipodystrophy and VEA service for the clinical onset of cardiomyopathy.. 38172 - the veteran has established the causal connection between generalised ...
Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. Lipodystrophies can be present at birth or develop during life and can range from local to partial and general. With at least 18 different genes implicated so far, definite diagnosis can be challenging due to clinical and genetic heterogeneity. In an adult female patient with clinical and metabolic features of partial lipodystrophy we identified via whole genome sequencing (WGS) a single complex AGPAT2 allele [V67M;V167A], functionally equivalent to heterozygosity. AGPAT2 encodes for an acyltransferase implicated in the biosynthesis of triacylglycerol and glycerophospholipids. So far homozygous and compound heterozygous mutations in AGPAT2 have only been associated with generalized lipodystrophy. A SNP risk score analysis indicated that the index
Newswise - DALLAS - Feb. 25, 2014 - Dwanna Swan has a lean, muscular physique many women would envy. Inside, however, a rare metabolic disease called lipodystrophy was wracking her body, resulting in severe diabetes, high blood pressure, and dangerously elevated triglyceride levels that could kill her.. But there was help at UT Southwestern Medical Center, thanks to researchers probing treatments for the disease and testing a new drug, metreleptin.. Without metreleptin, I could have developed life-threatening issues, such as heart attack or stroke, said Mrs. Swan, who has been taking the injectable drug for 14 years as part of the first clinical trial to test leptin treatment for lipodystrophy, conducted by researchers at UT Southwestern.. Last night, the U.S. Food and Drug Administration approved metreleptin, which is the drug form of the hormone leptin, for treatment of generalized lipodystrophy.. Many lipodystrophy patients have benefited from leptin therapy. While it is not a cure, leptin ...
TY - JOUR. T1 - Compensation by the muscle limits the metabolic consequences of lipodystrophy in PPARγ hypomorphic mice. AU - Koutnikova, Hana. AU - Cock, Terrie Anne. AU - Watanabe, Mitsuhiro. AU - Houten, Sander M.. AU - Champy, Marie France. AU - Dierich, Andrée. AU - Auwerx, Johan. PY - 2003/11/25. Y1 - 2003/11/25. N2 - Peroxisome proliferator-activated receptor γ (PPARγ) is a nuclear receptor, which controls adipocyte differentiation. We targeted with homologous recombination the PPARγ2-specific exon B, resulting in a white adipose tissue knockdown of PPARγ. Although homozygous (PPARγ hyp/hyp) mice are born with similar weight as the WT mice, the PPARγhyp/hyp animals become growth retarded and develop severe lipodystrophy and hyperlipidemia. Almost half of these PPARγ hyp/hyp mice die before adulthood, whereas the surviving PPARγhyp/hyp animals overcome the growth retardation, yet remain lipodystrophic. In contrast to most lipodystrophic models, the adult PPARγhyp/hyp mice only ...
Patients with HAART-induced lipodystrophy report loss of subcutaneous (sc) fat from the extremities and face and excess fat accumulation in the neck and truncal region. They also are predisposed to metabolic complications of insulin resistance, such as, dyslipidemia and diabetes mellitus. The pathogenesis of HAART-induced lipodystrophy is not fully understood although PIs have been strongly implicated as the cause. The metabolic complications pose an increased risk of atherosclerosis and acute pancreatitis whereas changes in body fat distribution cause physical discomfort and psychological distress. Management of these problems poses a therapeutic challenge. We propose potentially safe therapeutic lifestyle changes as well as novel therapies for management of HAART-induced lipodystrophy and its metabolic complications. The hypotheses to be tested and the aims are:. Hypothesis 1: A diet rich in cis-monounsaturated fatty acids improves HAART-induced glucose intolerance and dyslipidemia in ...
Patients with HAART-induced lipodystrophy report loss of subcutaneous (sc) fat from the extremities and face and excess fat accumulation in the neck and truncal region. They also are predisposed to metabolic complications of insulin resistance, such as, dyslipidemia and diabetes mellitus. The pathogenesis of HAART-induced lipodystrophy is not fully understood although PIs have been strongly implicated as the cause. The metabolic complications pose an increased risk of atherosclerosis and acute pancreatitis whereas changes in body fat distribution cause physical discomfort and psychological distress. Management of these problems poses a therapeutic challenge. We propose potentially safe therapeutic lifestyle changes as well as novel therapies for management of HAART-induced lipodystrophy and its metabolic complications. The hypotheses to be tested and the aims are:. Hypothesis 1: A diet rich in cis-monounsaturated fatty acids improves HAART-induced glucose intolerance and dyslipidemia in ...
OBJECTIVE: To evaluate the presence of clinical lipodystrophy in children with the acquired immunodeficiency syndrome and to relate it to the antiretroviral regimen employed, to changes in lipid profile and to insulin resistance. METHODS: This was a cross-sectional study that evaluated 30 children and adolescents (median age = 9.1 years) with the acquired immunodeficiency syndrome during 2004 and 2005. The following clinical and laboratory evaluations were performed: classification of HIV infection, anthropometric measurements (weight and height), serum glycemia, serum insulin and lipid profile (LDL-c, HDL-c, triglycerides). Lipodystrophy was diagnosed using clinical parameters. The chi-square test was used for statistical analysis. RESULTS: All of the patients were taking antiretroviral therapy regularly (median duration of 28.4 months); 80% were on three drugs in combination (highly active therapy) and 30% were on protease inhibitors. Lipodystrophy and dyslipidemia were observed in 53.3 and ...
Abstract Background Lipohypertrophy does not appear to be an adverse ART reaction while lipoatrophy is clearly associated with the use of stavudine (d4T) and zidovudine (AZT). In low and middle income countries d4T has only recently been phased out and AZT is still widely being used. Several case definitions have been developed to diagnose lipodystrophy, but none of them are generalizable to sub-Saharan Africa where black women have less visceral adipose tissue and more subcutaneous adipose tissue than white women. We aimed to develop a simple, objective measure to define lipoatrophy and lipohypertrophy by comparing patient report to anthropometric and dual-energy X-ray absorptiometry (DXA) -derived variables. Methods DXA and anthropometric measures were obtained in a cross sectional sample of black HIV-infected South African men (n = 116) and women (n = 434) on ART. Self-reported information on fat gain or fat loss was collected using a standard questionnaire. Receiver operating characteristic ...
ObjectiveTo investigate body fat distribution and glucose and lipid metabolism in HIV-infected children with the aim of describing the lipodystrophic syndrome in children.DesignCross-sectional study including 39 HIV-infected children aged 3-18 years.Main outcome measuresClinical lipodystrophy was de
Lipodystrophy or lipoatrophy is primary idiopathic atrophy of adipose tissue. Lipodystrophy is a very rare disorder with no known etiology.
Facial Lipodystrophy Treatment Market research report covers detailed information on Global Facial Lipodystrophy Treatment Market Size, Share, application, competition and growth opportunities till 2028
Congenital total lipodystrophy definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!
The lipodystrophic syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). In some of these disorders, there is also the apparent accumulation of fat in
To the Editor.-Recent reports of Sjögrens (sicca) syndrome associated with total and partial lipodystrophy1,2 prompted us to report the case of a patient with
OBJECTIVE To provide population-based estimates of the prevalence of lipodystrophy syndrome and constituent symptoms and to identify correlates of prevalent symptomology. METHODS Participants in a province-wide HIV/AIDS treatment programme reported morphological and metabolic abnormalities. Probable lipodystrophy was defined as self-report of at least one morphological abnormality or both high cholesterol and triglyceride levels. Explanatory variables investigated included: age; sex; ethnicity; transmission risk group; CD4 cell count; plasma viral load; AIDS diagnosis; duration of infection; alternative therapy use; past, current and duration of use of antiretroviral therapy (ART) by class and specific drug; total duration of ART; and current adherence. Stepwise logistic regression identified possible determinates of lipodystrophy. RESULTS Of 1035 participants, 50% appeared to have probable lipodystrophy, with 36% reporting peripheral wasting, 33% abdominal weight gain, 6% buffalo hump, and 10 and
Body fat redistribution (BFR) syndrome, sometimes called fat derangement, is a medical condition characterized by fat loss (or occasionally fat gain), often in the cheeks or face. BFR most often occurs in HIV/AIDS patients undergoing antiretroviral therapy. No firm definition of body fat redistribution syndrome exists as yet. At least four syndromes have been described that are characterized by the accumulation of fat, and one by the loss of fat; combinations of these may occur in an individual. Gender, age, and pre-therapy body weight appear to influence the severity of BFR in patients. BFR is distinct from lipodystrophy, which simply refers to fat loss. The most common manifestations of body fat redistribution are accumulations of fat in the central body in the form of a fat pad on the back of the neck and an accumulation of visceral fat in the abdomen or belly. This fat accumulation is accompanied by a loss of subcutaneous fat in the face, arms, legs, and buttocks. Cosmetic concerns may cause ...
Actually, diabetes is often part of the lipodystrophy syndrome. The fat issues are caused by protease inhibitors mostly and the other problems may be caused by mitochondrial toxicity of the...
MONTREAL, Canada , Aug 08, 2006 , ConjuChem Biotechnologies Inc. (TSX:CJB) provided findings of its investigation into the death of a patient that occurred in its Phase II clinical trial of DAC(TM):GRF in HIV Lipodystrophy. The Company had previously reported on July 14 that a death occurred of a patient in the trial at a clinical site in Argentina. The trial was an international multi-center, randomized, placebo-controlled, double-blind study which had completed enrollment with 192 patients ...
Lipodystrophy, insulin resistance, and adiponectin concentration in HIV-infected children and adolescents.: Alterations of fat distribution and insulin resistan
WASHINGTON -- The FDA has approved the first drug for treatment of HIV patients with lipodystrophy, a condition associated with antiretroviral therapy.
Long-time readers of this column may remember that back at the end of my first 13 week experiment, I wrote a little science-fiction piece from the point of view of 100 years in the future, when the underlying causes of obesity had been discovered and it had been redefined as a particular variety of lipodystrophy, that is, a metabolic condition in which fat distribution in the body becomes abnormal.. It does kind of sound like obesity, doesnt it? And lipodystrophy is certainly considered a disease. But lipodystrophy is normally defined in terms of an abnormal loss of fatty tissue. If we look at the various kinds of lipodystrophy, though, many of them are actually characterised by loss of body fat in some areas and abnormal deposits of body fat in other areas. Now think back to syndrome X, metabolic syndrome, that is, the collection of characteristics that appears to indicate someone is heading for type-2 diabetes. These include high triglycerides, high blood pressure, high blood sugar, and a ...
Steve Grinspoon, from the Neuroendocrine unit at Massachusetts General Hospital, reported in a poster at Athens (abstract 125) that measured carotid intima-media thickness (fat plaque in the artery) in 22 HIV-infected women with lipodystrophy: fat redistrubtion in the neck, face, abdomen, re extremities, Age was 45 years and body mass index was 26.4 Duration of HIV therapy was 7 years and cd4 count was 500. Fasting insulin (15.4), LDL (bad cholesterol) (120) and waist-to-hip ratio (0.96) were markedly increased. Carotid IMT was 0.62mm among the womwn, 0.62mm among Caucasian women (n=10), and 0.64mm among African-American women (n=8). Compared with age, gender, and race matched population norms, carotid IMT was significantly increased among the HIV-infected patients, p=0.01 for Caucasians (norm is 0.55) and p=0.04 for African-Americans (norm is 0.59). The carotid IMT observed in these 45 year old women is about equivalent to that predicted among 55-year old women. Among all patients, carotid IMT ...
Leptin has been shown to modulate intestinal inflammation in mice. However, clinical evidence regarding its immune-stimulatory potential in human Crohns disease remains sparse. We here describe a patient with the unique combination of acquired generalized lipodystrophy and Crohns disease (AGLCD) featuring a lack of adipose tissue, leptin deficiency and intestinal inflammation. Using mass and flow cytometry, immunohistochemistry and functional metabolic analyses, the AGLCD patient was compared to healthy individuals and Crohns disease patients regarding immune cell composition, function and metabolism and the effects of recombinant N-methionylleptin (rLeptin) were evaluated. We provide evidence that rLeptin exerts diverse pro-inflammatory effects on immune cell differentiation and function, including the metabolic reprogramming of immune cells and the induction of TNFα, ultimately aggravating Crohns disease in the AGLCD patient, which can be reversed by anti-TNFα therapy. Our results ...
It seems that any antiretroviral regimen has the potential to cause LD. Combivir and agenerase probably less so than others, but norvir certainly raises cholesterol and triglycerides more than the...
Windsor, UK, 31st July, 2018 – Aegerion Pharmaceuticals today announced the granting of a marketing authorisation in Europe for Myalepta (metreleptin) by the European Commission. Myalepta is a treatment for the ultra-rare condition, lipodystrophy, and has been approved as an adjunct to diet as a replacement th...
An interview with Rebecca Sanders, Lipodystrophy UK co-founder, discussing the importance of awareness campaigns for patients and society at large.
Background: Bariatric surgeries are the most effective treatments for successful and sustained weight loss but individuals vary in treatment response. Understanding the neurobiological and behavioral mechanisms accounting for this variation could lead to the development of personalized therapeutic approaches and improve treatment outcomes. The primary objectives were to investigate changes in taste preferences and taste-induced brain responses after Roux-en-Y gastric bypass (RYGB) and vertical sleeve gastrectomy (VSG) and to identify potential taste-related predictors of weight loss. Methods: Women, ages 18 to 55, with a body mass index ≥ 35 kg/m2 and approved for bariatric surgery at the Johns Hopkins Center for Bariatric Surgery were recruited for participation. Demographics, anthropometrics, liking ratings, and neural responses to varying concentrations of sucrose+fat mixtures were assessed pre- and post-surgery via visual analogue scales and functional magnetic resonance imaging. Results: ...
Lipodystophic syndromes are a rare but fascinating cause of insulin-resistant type 2 diabetes. The archetypal feature of all lipodystrophies is a lack of adipose tissue, which can either be partial or generalized. Nevertheless, the consequences of lipodystrophy, which include dyslipidemia, NAFLD, hyperandrogenism, PCOS in women, and accelerated cardiovascular disease, are remarkably similar to those usually associated with obesity as part of the metabolic syndrome (14). This observation in itself constitutes a key piece of evidence underpinning the so-called lipid overflow hypothesis, which posits that the capacity of mammalian adipose tissue to accommodate surplus lipid is finite, and that when this capacity is exceeded, lipids accumulate in ectopic sites, such as the liver and skeletal muscle, where they are instrumental in causing insulin resistance (15).. Within the last 15 years, several monogenic defects have been causally linked to human lipodystrophic syndromes, collectively advancing ...
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Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes usually type 2, dyslipidemia, hypertension, and early endpoints of atherosclerosis. It can also result in hepatic steatosis. FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C. Familial partial lipodystrophy Hegele, RA (December 2000). Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome. Molecular Genetics and Metabolism. 71 (4): 539-44. doi:10.1006/mgme.2000.3092. PMID 11136544. Hegele, RA (September 2000). Insulin resistance in human partial lipodystrophy. Current Atherosclerosis Reports. 2 (5): 397-404. ...
Looking for online definition of porcine cerebrospinal lipodystrophy in the Medical Dictionary? porcine cerebrospinal lipodystrophy explanation free. What is porcine cerebrospinal lipodystrophy? Meaning of porcine cerebrospinal lipodystrophy medical term. What does porcine cerebrospinal lipodystrophy mean?
Partial lipodystrophy with nephrotic syndrome.: A patient with nephrotic syndrome in association with partial lipodystrophy is reported. The features of partial
HIV associated Lipodystrophy Market: Overview. Changes in body fat concentration, affecting people with HIV, is known as HIV-associated lipodystrophy. The exact causes of this condition is currently unknown, but research suggests that this disorder can occur either due to HIV infection or as a consequence of side effects associated with drugs used in HIV infection treatment, such as Nucleoside/Nucleotide Reverse Transcriptase Inhibitors (NRTIs), Protease Inhibitors (PIs), etc. The lipodystrophy condition is characterized by metabolic abnormalities, including insulin resistance, and dyslipidemia. The HIV-associated lipodystrophy groups together different clinical conditions, which are lipoatrophy and lipoaccumulation. Lipoatrophy is associated with subcutaneous fat loss, whereas lipoaccumulation is the increase in visceral fat. In certain cases, HIV-associated lipodystrophy may occur as a combination of these two conditions; thus, its treatment and prevalence measurement are difficult.. Download ...
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Explore symptoms, inheritance, genetics of this condition.
Another name for Acquired Immunodeficiency Syndrome is AIDS. Lipodystrophy Syndrome Lipodystrophy syndrome is the abnormal distribution of fat in the ...
Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperand …
Ramanathan N. et al. (2013) Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2. In: Zschocke J., Gibson K.M., Brown G., Morava E., Peters V. (eds) JIMD Reports - Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, ...
A 42-year-old woman with a known diagnosis of acquired partial lipodystrophy (PLD) presented to the ophthalmic clinic with blurring and distortion of vision in the left eye. On general inspection, she had classic lipoatrophy in the cephalothoracic distribution. Ophthalmic examination showed right vision 6/5 and left 6/18. She had marked bilateral drusen and retinal pigment … ...
Generalized lipodystrophy is a disorder characterized by loss of adipose tissue and, usually, metabolic disturbance due to deficiency of hormones derived from these tissues, most importantly leptin. Generalized lipodystrophy (GL) may be divided in congenital GL, also known as Berardinelli-Seip syndrome and acquired GL, referred to as Lawrence syndrome.… Generalized Lipodystrophy (Berardinelli Seip Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
I also think there is a CNS interaction in the middle of all this, where insulin induced transient crushed FFA oxidation , is perceived by the brain, drives the hunger of reactive hypoglycemia. Glucose numbers widely reported as normal during patients with reactive hypoglycemia, although subjective hunger/weakness of the pt. What is not seen is a mitochondrial energy drop from abrupt insulin surges interfering with FFA oxidation and likely swift suppression of available FFA. I gained insight into a likely FFA driven mechanism of reactive hypoglycemia when I had it occur to me eating MCTs (cocohnut) while low carb. My glucose numbers shifted only slightly, my ketones ROSE, but likely what my meters could not tell me is the insulin produced from exogenous ketones inhibited FFA level/fat oxidation to produce the hallmark weakness/hunger of hypoglycemia as known by patients. As a leptin insufficient weight reduced person with very sensitive WAT tissue, trivial insulin elevations can suppress ...
Mutations in the BSCL2 gene underlie human type 2 Berardinelli-Seip congenital lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and results in the development of insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the development of lipodystrophy and cardiomyopathy in BSCL2 are controversial. Here we report that Bscl2-/- mice develop cardiac hypertrophy because of increased basal IGF1 receptor-mediated (IGF1R-mediated) PI3K/AKT signaling. Bscl2-/- hearts exhibited increased adipose triglyceride lipase (ATGL) protein stability and expression causing drastic reduction of glycerolipids. Excessive fatty acid oxidation was overt in Bscl2-/- hearts, partially attributing to the hyperacetylation of cardiac mitochondrial proteins. Intriguingly, pharmacological inhibition or genetic inactivation of ATGL could rescue adipocyte differentiation and lipodystrophy in Bscl2-/- cells and mice. Restoring a small portion of fat mass ...
Mutations in the BSCL2 gene underlie human type 2 Berardinelli-Seip congenital lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and results in the development of insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the development of lipodystrophy and cardiomyopathy in BSCL2 are controversial. Here we report that Bscl2-/- mice develop cardiac hypertrophy because of increased basal IGF1 receptor-mediated (IGF1R-mediated) PI3K/AKT signaling. Bscl2-/- hearts exhibited increased adipose triglyceride lipase (ATGL) protein stability and expression causing drastic reduction of glycerolipids. Excessive fatty acid oxidation was overt in Bscl2-/- hearts, partially attributing to the hyperacetylation of cardiac mitochondrial proteins. Intriguingly, pharmacological inhibition or genetic inactivation of ATGL could rescue adipocyte differentiation and lipodystrophy in Bscl2-/- cells and mice. Restoring a small portion of fat mass ...
HIV-Associated Lipodystrophy Syndrome: 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.
Mesangiocapillary glomerulonephritis (MCGN)-which is synonymous with membranoproliferative glomerulonephritis-is diagnosed when renal biopsy reveals glomeruli with a characteristic lobular appearance. Immunohistology and electron microscopy allow further subdivision into three patterns, types I, II (also called dense deposit disease), and III. Clinical presentation is with proteinuria (sometimes nephrotic syndrome) and/or haematuria; hypertension and/or impairment of excretory kidney function may be associated....
Mesangiocapillary glomerulonephritis type 1 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Maeda M, Maeda T, Ebihara K, Ihara K. The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. Clin Pediatr Endocrinol 2019;28(4):139-45. Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 1954;14(2):193-204. Seip M, Trygstad O. Generalized lipodystrophy. Arch Dis Child 1963;38(201):447-53. Chiquette E, Oral EA, Garg A, Araujo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes 2017:375-83. Ferraria N, Pedrosa C, Amaral D, Lopes L. Berardinelli-Seip syndrome: highlight of treatment challenge. BMJ Case Rep 2013;2013:bcr2012007734. Beltrand J, Beregszaszi M, Chevenne D, Sebag G, Kerdanet MD, Huet F, et al. Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics ...
Generalized lipodystrophy syndrome is the association of acanthosis nigricans (AN) with the generalized complete absence of subcutaneous fat and the presence of muscle hypertrophy, hyperlipemia, diabetes mellitus, and hepatosplenomegaly with cirrhosis. Two forms of this syndrome exist, acquired and congenital.
The autoantibody nephritic factor (NeF) leads to complement consumption in vivo and is associated with type II mesangiocapillary glomerulonephritis (MCGN II) and partial lipodystrophy (PLD). The third component of complement (C3) exists in two common allotypic forms, C3S and C3F, distinguished at th …
Metabolic & Genetic Information Center Inborn erros of metabolism LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 CGL2 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2
Mutations in BSCL2 gene underlie human Congenital Generalized Lipodystrophy type 2 (CGL2) diseases. CGL2 is an autosomal recessive disorder characterized by a ...
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.
Insulin resistance is a key mediator of obesity-related cardiometabolic disease, yet the mechanisms underlying this link remain obscure. Using an integrative genomic approach, we identify 53 genomic regions associated with insulin resistance phenotypes (higher fasting insulin levels adjusted for BMI, lower HDL cholesterol levels and higher triglyceride levels) and provide evidence that their link with higher cardiometabolic risk is underpinned by an association with lower adipose mass in peripheral compartments. Using these 53 loci, we show a polygenic contribution to familial partial lipodystrophy type 1, a severe form of insulin resistance, and highlight shared molecular mechanisms in common/mild and rare/severe insulin resistance. Population-level genetic analyses combined with experiments in cellular models implicate CCDC92, DNAH10 and L3MBTL3 as previously unrecognized molecules influencing adipocyte differentiation. Our findings support the notion that limited storage capacity of peripheral
Serono reported positive results from a Phase III trial of its recombinant human growth hormone Serostim for the treatment of HIV-associated adipose redistribution syndrome at the International AIDS Conference in Toronto, Canada, yesterday. - News - PharmaTimes
Obesity-related insulin resistance and its metabolic consequences, such as type 2 diabetes and fatty liver disease, are increasing worldwide. Understanding the mechanisms that link obesity and insulin resistance to its complications is therefore of great importance. Interestingly, the loss of adipose tissue (i.e., lipodystrophy), is also associated with many of the metabolic disturbances of obesity. Although SHORT syndrome is a rare disease, understanding the partial lipodystrophy of SHORT syndrome provides a unique opportunity to explore the role of PI3K in adipose biology, insulin resistance, and metabolic syndrome. In recent work, we have shown that mice with a heterozygous KI of the Pik3r1 R649W mutation, the most common mutation in SHORT syndrome, have shorter body length and reduced fat mass, despite normal food consumption (24). These mice also have systemic insulin resistance, with the most dramatic effects in fat and liver.. In the current study, we show that these mice gain ...
We have described both a new form of lipodystrophy and a new phenotype of T2DM. Patients with T2DM and PLL are distinguished by 1) the presence of T2DM or prediabetes, 2) symmetrical lipodystrophy of the forearms, or forearms plus calves, or less commonly, whole limbs, and 3) acanthosis nigricans. Metabolically, these patients have profound insulin resistance, with little or no measurable insulin-mediated glucose disposal during hyperinsulinemic clamps. When compared with the control T2DM patients, the PLL patients will often have greater elevations of hepatic transaminases, suggesting more pronounced hepatic steatosis and more marked hypertriglyceridemia, and report the onset of T2DM a full decade earlier (at ∼29 years). T2DM with PLL can affect patients identifying with multiple ethnic and racial groups and appears to most commonly occur in women.. The pattern of fat loss is dissimilar from that reported for known forms of lipodystrophy with any consistency, and T2DM with PLL does not ...
B Barraquer-Simons sendromu. Nedeni bilinmiyor (otoimmun hastalık kuşkusu). Edinsel bir lipodistrofi türü. Baş-boyun ve yüz çevresi ile toraks yağ dokusunun progressif atrofisi. Diabetes mellitus. Hipertrigliseridemi. Hipokomplemantemi. Karaciğer yağlanması. Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. Journal of Human Genetics, 59(1):16-23, 2014. Simsek-Kiper PO, Roach E, Utine GE, Boduroglu K. Barraquer-Simons syndrome: a rare clinical entity. American Journal of Medical Genetics A, 164A(7):1756-1760, 2014. Akinci B, Koseoglu FD, Onay H, et al. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. Metabolism, 64(9):1086-1095, 2015. ...
BACKGROUND. Recombinant leptin (metreleptin) ameliorates hyperphagia and metabolic abnormalities in leptin-deficient humans with lipodystrophy. We aimed to determine whether metreleptin improves glucose and lipid metabolism in humans when food intake is held constant. METHODS. Patients with lipodystrophy were hospitalized for 19 days, with food intake held constant by a controlled diet in an inpatient metabolic ward. In a nonrandomized, crossover design, patients previously treated with metreleptin (n = 8) were continued on metreleptin for 5 days and then taken off metreleptin for the next 14 days (withdrawal cohort). This order was reversed in metreleptin-naive patients (n = 14), who were reevaluated after 6 months of metreleptin treatment on an ad libitum diet (initiation cohort). Outcome measurements included insulin sensitivity by hyperinsulinemic-euglycemic clamp, fasting glucose and triglyceride levels, lipolysis measured using isotopic tracers, and liver fat by magnetic resonance ...
Dr. Abhimanyu Garg of UT Southwestern in Dallas is the worlds leading expert in the diagnosis, treatment and research of lipodystrophies and lipid metabolism disorders.
torsdag, 6 november 2014. AstraZeneca today announced that it has entered into a definitive agreement with Aegerion Pharmaceuticals, Inc. to divest Myalept™ (metreleptin for injection), an orphan product that is indicated to treat complications of leptin deficiency in patients with generalised lipodystrophy.. Myalept is the first and only product approved in the US for the treatment of generalised lipodystrophy and it has orphan drug designation in the US, EU, and Japan. Myalept is a recombinant analogue of human leptin, indicated in the US as an adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalised lipodystrophy.. Under the terms of the agreement, Aegerion will pay AstraZeneca $325 million upfront to acquire the global rights to develop, manufacture and commercialise Myalept, subject to an existing distributor licence with Shionogi covering Japan, South Korea, and Taiwan. The transaction does not include the ...
If approved, metreleptin would be the first medication available in the EU to treat generalized and partial lipodystrophies More than 100 patients are currently treated with metreleptin via a compassionate use program in Europe
Akcea Therapeutics, Inc. is a biopharmaceutical company. The Company is focused on developing and commercializing drugs to treat patients with serious cardiometabolic diseases caused by lipid disorders. The Companys drugs, volanesorsen, AKCEA-APO(a)-LRx, AKCEA-ANGPTL3-LRx and AKCEA-APOCIII-LRx, are all based on antisense technology developed by Ionis Pharmaceuticals, Inc. (Ionis). The Companys volanesorsen drug has completed a Phase III clinical program for the treatment of familial chylomicronemia syndrome (FCS) and is currently in Phase III clinical development for the treatment of familial partial lipodystrophy (FPL). The Companys clinical pipeline contains drugs with the potential to treat inadequately addressed lipid disorders beyond elevated LDL-C that are contributing to the dramatic increase in the incidence of cardiometabolic disease, such as elevated triglycerides, oxidized phospholipids and other lipoproteins, such as lipoprotein(a), or Lp(a).
Ionis Pharmaceuticals, Inc. is engaged in discovering and developing ribonucleic acid (RNA)-targeted therapeutics. The Company, using its drug discovery platform, has developed a pipeline of drugs for patients with unmet medical needs. The Companys segments include Ionis Core and Akcea Therapeutics. In the Ionis Core segment, the Company is engaged in exploiting a drug discovery platform to generate a pipeline of drugs for the Company and its partners. The Akcea Therapeutics segment includes the operations of the Companys subsidiary, Akcea Therapeutics, Inc. (Akcea Therapeutics). Akcea Therapeutics is focused on developing and commercializing volanesorsen and other clinical-stage drugs for serious cardiometabolic diseases caused by lipid disorders. The Company is developing volanesorsen to treat two severe and rare, genetically defined diseases, familial chylomicronemia (FCS) and familial partial lipodystrophy (FPL). The Company offers SPINRAZA, a Generation 2.0+ antisense drug.. ...
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 ...
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 ...
generalized: Acquired generalized lipodystrophy. *partial: Acquired partial lipodystrophy. *Centrifugal abdominal lipodystrophy ...
Most people with elevated triglycerides experience no symptoms. Some forms of primary hypertriglyceridemia can lead to specific symptoms: both familial chylomicronemia and primary mixed hyperlipidemia include skin symptoms (eruptive xanthoma), eye abnormalities (lipemia retinalis), hepatosplenomegaly (enlargement of the liver and spleen), and neurological symptoms. Some experience attacks of abdominal pain that may be mild episodes of pancreatitis. Eruptive xanthomas are 2-5 mm papules, often with a red ring around them, that occur in clusters on the skin of the trunk, buttocks and extremities.[2] Familial dysbetalipoproteinemia causes larger, tuberous xanthomas; these are red or orange and occur on the elbows and knees. Palmar crease xanthomas may also occur.[1][2]. The diagnosis is made on blood tests, often performed as part of screening. Once diagnosed, other blood tests are usually required to determine whether the raised triglyceride level is caused by other underlying disorders ...
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". Henninge J, Pepaj M, Hullstein I, Hemmersbach P (2010). " ...
"OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Retrieved 2016-12-06. Rautenstrauch, T; Snigula, F; ... Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann-Rautenstrauch syndrome, since the Marfanoid ... "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene ...
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 ...
Lymphedema Steatopygia Adiposis dolorosa Lipodystrophy "Lipedema". rarediseases.info.nih.gov. Retrieved 30 December 2016. CS1 ...
Marfanoid-progeroid-lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS ... "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Retrieved 2016-12-06. Graul-Neumann LM, Kienitz T, ... "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene ... "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3-prime ...
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.. ... 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 ...
It is a form of lipodystrophy. Lipoatrophia semicircularis List of cutaneous conditions James, William D.; Berger, Timothy G.; ...
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 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): ...
Mutations in this gene have been associated with congenital generalized lipodystrophy, a disease characterized by a near ... Garg A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal of Medicine. 350 (12): 1220-34. doi: ... "A gene for congenital generalized lipodystrophy maps to human chromosome 9q34". The Journal of Clinical Endocrinology and ... "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature Genetics. 31 (1): 21-3. doi: ...
... progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies". Metabolism. 64 (11): 1530-40 ... "Nuclear envelope-related lipodystrophies". Seminars in Cell & Developmental Biology. 29: 148-57. doi:10.1016/j.semcdb.2013.12. ... "An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy". Nature Genetics ... and Progeroid features and Lipodystrophy (MDPL/MDP syndrome). Studies of POLD1 emphasize the importance of maintaining genomic ...
"Changes to Your Face and Body (Lipodystrophy & Wasting)". Poz. Retrieved 16 February 2018. "PrEP does not raise lipids or alter ...
Lipodystrophy List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2- ...
Whipple referred to the disease as "intestinal lipodystrophy". It was long presumed to be an infectious disease, but the ...
2004). Acquired and inherited lipodystrophies. In: N Engl. J. Med. doi: 10.1056/NEJMra025261 U. Steidl, S. Bork, S. Schaub, O. ...
Congenital generalized lipodystrophy type 1. *Congenital generalized lipodystrophy type 2. *Diabetes mellitus type 1 ...
... such as familial partial lipodystrophy, but its use in this context is yet to be FDA approved. They are also used to assess ... From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers". Diabetes Care. 41 (10): ... "Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort". Clin. Endocrinol. (Oxf). 86 (5): 698- ... "Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome". Endocrine. 54 (2): 411-421. doi:10.1007/s12020- ...
"FDA approves Egrifta to treat Lipodystrophy in HIV patients". U.S. Food and Drug Administration. 2010-11-10. Retrieved 2013-09- ... Food and Drug Administration approval in 2010 for the treatment of lipodystrophy in HIV patients under highly active ...
"Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". GeneReviews/NCBI/NIH/UW entry on BSCL2-Related ... 2004). "Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation ... 2005). "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation". Ann. Neurol. 57 (3): 415-24. doi:10.1002 ... It can be associated with Congenital generalized lipodystrophy type 2 . GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, ...
"Lipodystrophy and metabolic abnormalities in Slovenian HIV-infected patients". Wiener Klinische Wochenschrift. 116 (21-22): 755 ...
Familial partial lipodystrophy (FPL), also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition ... Lipodystrophy List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2- ... Garg A (2011). "Clinical review#: Lipodystrophies: genetic and acquired body fat disorders". J. Clin. Endocrinol. Metab. 96 (11 ... "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care. 26 (6): 1819-24. doi:10.2337/ ...
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), ...
Its called acquired lipodystrophy when you arent born with it. ... Lipodystrophy is a problem with the way your body uses and ... "Lipodystrophy Therapies," "Acquired: Generalized Lipodystrophy (AGL; Lawrence Syndrome)," "Acquired: Partial Lipodystrophy ( ... Localized lipodystrophy can happen to anyone at any age. A small dimple of localized lipodystrophy may look odd, but it ... Acquired generalized lipodystrophy (AGL), or Lawrence syndrome. *Acquired partial lipodystrophy (APL), also called progressive ...
Lipodystrophy is a very rare disorder with no known etiology. ... Lipodystrophy or lipoatrophy is primary idiopathic atrophy of ... encoded search term (Localized Lipodystrophy) and Localized Lipodystrophy What to Read Next on Medscape. Related Conditions and ... Localized Lipodystrophy Medication. Updated: May 02, 2017 * Author: Serhat Aytug, MD; Chief Editor: George T Griffing, MD more ... Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011 Nov. 96(11):3313-25. [Medline] ...
Lipodystrophy is a term used to describe a group of varying disorders which are characterized by abnormal loss of body fat over ... The most common among the genetic subtypes are the congenital generalized lipodystrophy and the familial partial lipodystrophy ... Lipodystrophy is a term used to describe a group of varying disorders which are characterized by abnormal loss of body fat over ... Congenital generalized lipodystrophy is present from birth, as a loss of fat over the whole body, and is inherited in an ...
Lipodystrophy can be divided into the following types: Congenital lipodystrophy syndromes Congenital generalized lipodystrophy ... 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 31st is observed as the ... Lipodystrophy United is an American organization founded and run by lipodystrophy patients to support each other and raise ...
Lipodystrophy, also called fat redistribution, is common in people with HIV and AIDS. Find out what causes it and how its ... Lipodystrophy is a problem with the way your body makes, uses, and stores fat. Its also called fat redistribution. ... There are two types of lipodystrophy: fat loss and fat buildup.. Men tend to lose fat. This is called lipoatrophy and usually ... You may need medicine specifically for lipodystrophy or disorders related to the condition, including:. * Tesamorelin (Egrifta ...
Localized lipodystrophy is a skin condition characterized by the loss subcutaneous fat localized to sites of insulin injection ... Lipodystrophy List of cutaneous conditions Skin lesion James, William D.; Berger, Timothy G.; et al. (2006). Andrews Diseases ...
Definition of membranous lipodystrophy. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and ... membranous lipodystrophy. Definition: a rare metabolic disease in which bone marrow fat cells are transformed into thick ...
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 ...
Hunter, R. C, andWard, J. R. Intestinal lipodystrophy (Whipples Disease) treated with ACTH and corticosteroids.Am. J. Digest. ...
Lipodystrophy UK co-founder, discussing the importance of awareness campaigns for patients and society at large. ... What is lipodystrophy and why is it so rare?. Lipodystrophy is a condition that impacts a persons ability to produce and store ... As Chair of Lipodystrophy UK, Rebecca is driven to raise awareness of lipodystrophy, not only with the general public, but also ... What motivated you to create a patient group for lipodystrophy?. I received my lipodystrophy diagnosis when I was 17, and the ...
... for treatment of a type of lipodystrophy in HIV positive people taking ... ... In November, the FDA approved tesamorelin (Egrifta; formerly known as TH9507) for treatment of a type of lipodystrophy in HIV ...
Lipodystrophy, or lipo for short, is a collection of body shape changes in people taking antiretroviral medications (ARVs). ... What Is Lipodystrophy?. Lipodystrophy, or "lipo" for short, is a collection of body shape changes in people taking ... It reduces visceral fat accumulation in lipodystrophy. It has similar results to growth hormone with fewer side effects. It was ...
Definition of familial partial lipodystrophy. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ... familial partial lipodystrophy. Definition: a disorder characterized by symmetric truncal and extremity lipodystrophy. Findings ...
... David Alain Wohl, MD University of North Carolina AIDS Research and Treatment Center ... Before we declare that central fat accumulation or buffalo humps are not a feature of HIV-associated lipodystrophy it is ...
Congenital total lipodystrophy definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and ...
Congenital generalized lipodystrophy (CGL) is one of the most well-studied lipodystrophy syndromes with over 300 reported cases ... Accordingly, both acquired and genetic lipodystrophy may be associated with either a generalized or a partial lipodystrophy ... Lipodystrophies are a heterogeneous group of rare acquired and inherited disorders characterized by selective loss of adipose ... One of them is the role of leptin therapy in patients with partial lipodystrophy who have variable fat loss and leptin levels. ...
Acquired lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point ... LOCALIZED LIPODYSTROPHY. This form of lipodystrophy is characterized by subcutaneous fat loss in a small area of the body only ... ACQUIRED PARTIAL LIPODYSTROPHY (APL; BARRAQUER-SIMONS SYNDROME). This form of acquired lipodystrophy usually has onset during ... ACQUIRED GENERALIZED LIPODYSTROPHY (AGL; LAWRENCE SYNDROME). Individuals with this form of lipodystrophy experience the loss of ...
... lipodystrophy (LD) began to appear in HIV patients mitigating the enormous enthusiasm about improvement of survival and... ... Lipodystrophy and weight changes: data from the Swiss HIV Cohort Study, 2000-2006. HIV Med. 2008;9(3):142-50.PubMedCrossRef ... Lipodystrophy following antiretroviral therapy of primary HIV infection. AIDS. 2000;14(15):2406-7.PubMedCrossRefGoogle Scholar ... Impact of lipodystrophy on the quality of life of HIV-1-infected patients. J Acquir Immune Defic Syndr. 2002;31(4):404-7.PubMed ...
The FDA has approved the first drug for treatment of HIV patients with lipodystrophy, a condition associated with ... FDA Okays First Drug for Lipodystrophy. WASHINGTON -- The FDA has approved the first drug for treatment of HIV patients with ... WASHINGTON -- The FDA has approved the first drug for treatment of HIV patients with lipodystrophy, a condition associated with ... FDA decision was based on findings from two clinical trials involving 816 HIV-infected adult men and women with lipodystrophy ...
OZON ??? ?????? ??????? Aspects on lipodystrophy ????????? LAP Lambert Academic Publishing ... Lipodystrophy is an acquired or inherited disorder of fat metabolism that may be clinically evident as lipohypertrophy, ... The pathogenesis of lipodystrophy is likely multifactorial, involving effects of antiretroviral medications, HIV itself, ... New insights from research and clinical trials could potentially revolutionize the lipodystrophy management. ...
Facial Lipodystrophy Syndrome. Lipodystrophy is characterized by abnormal fat distribution in the body. In association with the ... Reconstructive Treatments for Facial Lipodystrophy Syndrome Select the Print Complete Record, Add to Basket or Email Record ... Lipodystrophy Syndrome (LDS) is characterized by abnormal redistribution of fat. Facial LDS refers to a wasting of the fat ... Treatment for facial lipodystrophy syndrome may include various approaches to facial contour resolution, such as dermal-fat ...
See Treatment of HIV-associated lipodystrophy.). The association between lipodystrophy and metabolic abnormalities is also ... Risk of lipodystrophy in HIV-1-infected patients treated with protease inhibitors: a prospective cohort study. Lancet 2001; 357 ... Epidemiology, clinical manifestations, and diagnosis of HIV-associated lipodystrophy. Author. Christine A Wanke, MD. Christine ... Lipodystrophy associated with nevirapine-containing antiretroviral therapies. AIDS 1999; 13:865.. *Drechsler H, Powderly WG. ...
Corticosteroid-induced Lipodystrophy and Adipokines. Official Title Study of Histological and Adipokines Expression Variations ... called lipodystrophy (LD). We hypothesize that this LD is associated with variation of adipocytokines (e.g., adiponectin, ... in Lipodystrophic Adipose Tissue During Corticosteroids-induced Lipodystrophy. Brief Summary Hypothesis: systemic therapy with ...
Clinically significant lipodystrophy, identified by the study physician during the physical examination as an absence of fat ... Lipid regulation in lipodystrophy versus the obesity-associated metabolic syndrome: the dissociation of HDL-C and triglycerides ... Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol ... Patients age greater than or equal to 6 months with significant lipodystrophy may be eligible for this study. Participants will ...
Lipodystrophy is characterized by the redistribution of body fat from the limbs, face, and buttocks (lipoatrophy) to the ... T. Kino, M. Mirani, S. Alesci, and G. P. Chrousos, "AIDS-related lipodystrophy/insulin resistance syndrome," Hormone and ... A. Segatto, I. Junior, V. Dos Santos et al., "Lipodystrophy in HIV/AIDS patients with different levels of physical activity ... Scleredema in a Patient with AIDS-Related Lipodystrophy Syndrome. Ralph Yachoui, Pamela Traisak, and Shirish Jagga ...
familial partial lipodystrophy (DOID:0050440) Alliance: disease page Synonyms: Dunnigan Syndrome; Koberling-Dunnigan Syndrome ... Human Disease Modeled: familial partial lipodystrophy. Associated Mouse Gene: Pparg Allelic Composition. Genetic Background. ... Human Disease Modeled: familial partial lipodystrophy. Associated Mouse Gene: Zmpste24 Allelic Composition. Genetic Background ... Human Disease Modeled: familial partial lipodystrophy. Associated Mouse Transgene: Tg(Fabp4-LMNA*R482Q)11ACdl Allelic ...
... and side effects Drug therapy Patient outcomes HIV infections Hypercholesterolemia Insulin resistance Lipodystrophy Care and ... Overview of HIV-related lipodystrophy.(ORIGINAL ARTICLE, Report) by Southern African Journal of HIV Medicine; Health, general ... Metabolic consequences of lipodystrophy Lipodystrophy is well known to cause significant psychological distress and has been ... on lipodystrophy. The comparison of studies is complicated by different measurement standards for lipodystrophy, the use of ...
  • Familial partial lipodystrophy (FPL), also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. (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)
  • The most common among the genetic subtypes are the congenital generalized lipodystrophy and the familial partial lipodystrophy, while among the acquired subtypes the most frequently seen are acquired generalized and acquired partial lipodystrophies. (news-medical.net)
  • 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)
  • Patients with familial partial lipodystrophy (FPL) have normal fat distribution at birth but usually develop fat loss from the extremities after puberty. (mayoclinic.org)
  • The conventional diagnostic scheme for lipodystrophy involves the extent of fat loss (general or partial) and inheritance (acquired or congenital) resulting in four categories of disease: congenital generalized lipodystrophy, acquired generalized lipodystrophy, familial partial lipodystrophy (FPL), and acquired partial lipodystrophy (APL) ( 1 - 5 ). (diabetesjournals.org)
  • OBJECTIVES -Familial partial lipodystrophy, Dunnigan variety (FPLD), is an autosomal dominant disorder due to missense mutations in the lamin A/C ( LMNA) gene encoding nuclear lamina proteins. (diabetesjournals.org)
  • Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. (scirp.org)
  • Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. (scirp.org)
  • Two phenotypes, congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy, are recognized with different degrees of loss of body fat. (diabetesjournals.org)
  • Two major categories can be distinguished: Familial partial lipodystrophy (FPLD) and congenital generalized lipodystrophy (CGL). (frontiersin.org)
  • Akcea's most advanced programme, volanesorsen, is in Phase 3 development to treat patients with either familial chylomicronemia syndrome or familial partial lipodystrophy , two orphan lipid disorders that are characterized by extremely high triglycerides and ApoC-III. (thefreedictionary.com)
  • Mutations in LMNA cause familial partial lipodystrophy (FPLD), a genetic disorder that leads to unbalanced body fat distribution (Owen et al. (thefreedictionary.com)
  • 2001) and can cause an inherited disorder called familial partial lipodystrophy (FPLD), which is characterized by abnormal body fat distribution. (thefreedictionary.com)
  • Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene. (thefreedictionary.com)
  • A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. (thefreedictionary.com)
  • In 1998, researchers localized a human gene that caused familial partial lipodystrophy , called Dunnigan type (FPLD). (thefreedictionary.com)
  • 1999), familial partial lipodystrophy (Shackleton et al. (thefreedictionary.com)
  • In people with Dunnigan-type familial partial lipodystrophy , fat melts from arms, legs, and buttocks while depositing in the head, neck, and abdomen. (thefreedictionary.com)
  • Findings from the first poster titled, "Metabolic Effects of Metreleptin Treatment in Familial Partial Lipodystrophy (FPL)," included data from an ongoing expanded access protocol of metreleptin administration in patients with rare forms of inherited or acquired lipodystrophy. (thefreedictionary.com)
  • These include AGPAT2 (1-acylglycerol-3-phosphate-O-acyltransferase 2), BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) in Congenital Generalized Lipodystrophy (CGL), Lamin A/ C (LMNA) gene in Familial Partial Lipodystrophy Dunnigan variety (Familial Partial Lipodystrophy), and PPARG (peroxisome proliferator-activated receptor gamma) gene in familial partial lipodystrophy. (geneticalliance.org.uk)
  • The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. (sigmaaldrich.com)
  • Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. (garvan.org.au)
  • The two most common types of lipodystrophy are genetic: autosomal recessive congenital generalized lipodystrophy (CGL) and autosomal dominant familial partial lipodystrophy (FPL). (thecardiologyadvisor.com)
  • Kinds of lipodystrophy are congenital total lipodystrophy, familial partial lipodystrophy , insulin lipodystrophy, membranous lipodystrophy, and progressive lipodystrophy . (thefreedictionary.com)
  • Dunnigan-type familial partial lipodystrophy was linked with heterozygous R482W mutation in the LMNA gene in an analysis of 3 women from one family. (medscape.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)
  • Patients with acquired generalized lipodystrophy (AGL) may show severe metabolic complications similar to patients with CGL, while patients with acquired partial lipodystrophy (APL), also known as Barraquer-Simons syndrome, who invariably have well-preserved lower body fat, have lesser incidences of metabolic complications compared with other lipodystrophy syndromes. (mayoclinic.org)
  • Subtypes of acquired lipodystrophy include acquired generalized lipodystrophy (Lawrence syndrome), acquired partial lipodystrophy (Barraquer-Simons syndrome), localized lipodystrophy, and high active antiretroviral induced lipodystrophy, which may develop in HIV-infected individuals undergoing a specific form of treatment. (rarediseases.org)
  • A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors. (springer.com)
  • A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome. (springer.com)
  • Reconstructive treatments for Facial Lipodystrophy Syndrome generally involve injecting various substances to supplement or fill out certain contours of the face. (cms.gov)
  • Lipodystrophy Syndrome (LDS) is characterized by abnormal redistribution of fat. (cms.gov)
  • Certain treatments of facial lipodystrophy syndrome in association with HIV or AIDs may be included in one of several benefit categories. (cms.gov)
  • When this abnormal fat distribution occurs in the face, it is commonly described as Facial Lipodystrophy Syndrome. (cms.gov)
  • Treatment for facial lipodystrophy syndrome may include various approaches to facial contour resolution, such as dermal-fat grafts, fat injections, submalar silicone implants, liquid injectable silicone, polylactic acid injections, collagen, hyaluronic acid fillers, and a biocompatible implant filler consisting of calcium hydroxylapatite. (cms.gov)
  • The term 'HIV-associated lipodystrophy syndrome' was coined, but it soon became clear that there was not a single syndrome but rather the co-occurrence of phenotypes that varies from person to person. (uptodate.com)
  • Controversy exists about how frequently the lipodystrophy syndrome occurs, with estimates ranging from 10 percent to more than 80 percent [ 13-16 ]. (uptodate.com)
  • AIDS-related insulin resistance and lipodystrophy syndrome are a newly emerging entities in HIV-infected patients associated with severe metabolic disturbances and insulin resistance. (hindawi.com)
  • Here, we report the rare occurrence of scleredema in an HIV-infected patient with AIDS-related lipodystrophy syndrome. (hindawi.com)
  • AIDS-related insulin resistance and lipodystrophy syndrome is a newly emerging entity, which is observed in 30-80% of AIDS patients who are well controlled by highly active antiretroviral therapy (HAART). (hindawi.com)
  • The lipodystrophy syndrome is a well-recognised phenomenon in HIV-1-infected patients receiving antiretroviral therapy (ART). (thefreelibrary.com)
  • Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is an autosomal recessive disorder, which can result from mutations in any one of several genes ( AGPAT2 , CAV1 , BSCL2 , PTRF ), featuring generalized lack of adipose tissue exhibited at birth or within the first year of life. (diabetesjournals.org)
  • Patients with acquired generalized lipodystrophy or Lawrence syndrome develop progressive fat loss beginning in childhood or adolescence involving first the face and upper extremities and eventually the torso. (diabetesjournals.org)
  • Increasing the body's production of growth hormone may be an effective treatment for HIV lipodystrophy, a syndrome involving the redistribution of fat and other metabolic changes in those receiving combination drug therapy for HIV infection. (innovations-report.com)
  • Lipodystrophy and wasting syndrome can be disfiguring and emotionally devastating conditions, fortunately both are less common in people living with HIV today thanks to advances in ARV treatment. (poz.com)
  • Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. (nih.gov)
  • An Act Relative to HIV-associated Lipodystrophy Syndrome Treatment, sponsored by Representative Sarah Peake and Senator Mark Montigny, mandates that private insurers and MassHealth cover treatment for a debilitating and disfiguring side effect of the first wave of life-saving HIV medications.The bill is the first of its kind in the country, and now goes to Governor Charlie Baker for signature. (glad.org)
  • Lipodystrophy syndrome is the abnormal distribution of fat in the body. (freemd.com)
  • HIV-associated lipodystrophy is a syndrome that are found in human immune-deficiency virus (HIV)-infected patients who are being administered with active antiretroviral medications for the treatment of HIV infection. (sbwire.com)
  • The complex morphological signs associated with lipodystrophy syndrome inhibits our understanding of the etiology of the disease, and offers significant challenges to clinicians and researchers finding its cure. (sbwire.com)
  • The increasing prevalence of lipodystrophy is the foremost factor driving the global market for HIV associated lipodystrophy syndrome. (sbwire.com)
  • This research report provides a comprehensive overview of the current and foreseeable scenario of the global HIV associated lipodystrophy syndrome market. (sbwire.com)
  • It offers insights into the data pertaining to the clinical trials on HIV associated lipodystrophy syndrome. (sbwire.com)
  • The report presents a detailed description of the dynamics and competitive landscape of the global HIV associated lipodystrophy syndrome market. (sbwire.com)
  • Moreover, with the entry of Asian players the prices are bound to decline, thereby driving the adoption of therapeutics for HIV associated lipodystrophy syndrome. (sbwire.com)
  • Whereas BSCL2 mutations that cause lipodystrophy are recessive, Silver syndrome is the result of a dominant inheritance. (pnas.org)
  • A syndrome, named "HIV-associated lipodystrophy syndrome", was coined to classify these clinical spectrum aspects. (dovepress.com)
  • The simultaneous occurrence of these two diseases suggests that angiomatosis is a common, previously overlooked manifestation of congenital lipodystrophy or a new syndrome in a heterogeneous group of lipodystrophy disorders. (annals.org)
  • The lipodystrophy syndrome was initially described in the adult HIV-infected population and was thought to be associated with the use of the protease inhibitors (PIs). (lww.com)
  • 4 Treatments combining a PI and NRTI increase the incidence and severity of the lipodystrophy syndrome. (lww.com)
  • Although the lipodystrophy syndrome has been well characterized in the adult population, there are few pediatric data available. (lww.com)
  • Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (springer.com)
  • In addition certain medications can induce localized lipodystrophy such as steroids or antiretroviral treatment, or it can be triggered by panniculitis (such as nodular non-suppurative panniculitis, Weber-Christian syndrome). (nih.gov)
  • Urman R., Chahal M. and Spiegel J. Progressively difficult laryngoscopy and intubations secondary to HIV lipodystrophy syndrome. (harvard.edu)
  • Abdominal fat accumulation -- an aspect of lipodystrophy syndrome -- is a concern for many HIV positive people, both in terms of body image and cardiovascular risk. (hivandhepatitis.com)
  • OBJECTIVE: To provide population-based estimates of the prevalence of lipodystrophy syndrome and constituent symptoms and to identify correlates of prevalent symptomology. (ubc.ca)
  • We examined adipose tissue changes related to lipodystrophy and metabolic syndrome to clarify whether it may be acceptable to focus diagnosis on metabolic syndrome rather than lipodystrophy. (deepdyve.com)
  • We evaluated lipodystrophy (clinical assessment) and metabolic syndrome (JIS-2009). (deepdyve.com)
  • We compared adipocyte size, leukocyte infiltration, and gene expression in abdominal subcutaneous adipose tissue biopsies of patients with and without lipodystrophy, and with and without metabolic syndrome. (deepdyve.com)
  • Conclusions Metabolic syndrome rather than lipodystrophy was associated with major unfavourable abdominal subcutaneous adipose tissue changes. (deepdyve.com)
  • Abstract Background In HIV-infected patients on combination antiretroviral therapy (cART), lipodystrophy shares many similarities with metabolic syndrome, but only metabolic syndrome has objective classification criteria. (deepdyve.com)
  • Acquired partial lipodystrophy (APL or Barraquer-Simons syndrome) has been reported in only about 250 cases of various ethnicities, with 80% of affected cases being females. (thecardiologyadvisor.com)
  • Acquired generalized lipodystrophy (AGL or Lawrence syndrome) has only been reported in about 100 cases, mostly Caucasians and 75% female. (thecardiologyadvisor.com)
  • Lipodystrophies should be suspected in patients presenting with early diabetes, severe hypertriglyceridemia, hepatic steatosis, hepatosplenomegaly, acanthosis nigricans, and polycystic ovarian syndrome (PCOS), especially in lean patients with these metabolic disturbances. (thecardiologyadvisor.com)
  • Berardinelli-Seip congenital lipodystrophy type 2, the severest form of human lipodystrophy with an almost complete loss of adipose tissue, is due to loss-of-function mutations in the BSCL2/SEIPIN gene. (medscape.com)
  • Lipodystrophies are a heterogeneous group of rare acquired and inherited disorders characterized by selective loss of adipose tissue. (mayoclinic.org)
  • Lipodystrophy is a general term for a group of disorders that are characterized by complete (generalized) or partial loss of adipose tissue. (rarediseases.org)
  • Some physicians refer to the loss of adipose tissue that characterizes these disorders as lipoatrophy rather than lipodystrophy. (rarediseases.org)
  • A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (jax.org)
  • Lipodystrophies are a rare, heterogeneous group of disorders characterized by loss of subcutaneous adipose tissue together with metabolic abnormalities associated with insulin resistance. (diabetesjournals.org)
  • Lipodystrophies are the result of a range of inherited and acquired causes, but all are characterized by perturbations in white adipose tissue function and, in many instances, its mass or distribution. (jci.org)
  • More recently, genome-wide association studies focused on insulin resistance have linked common variants to genes implicated in adipose biology and suggested that subtle forms of lipodystrophy contribute to cardiometabolic disease risk at a population level. (jci.org)
  • Lipodystrophies are a heterogeneous class of adipose tissue disorders characterized by body fat loss. (scirp.org)
  • Lipodystrophy and lipoatrophy syndromes are characterized by congenital or acquired decreases in adipose tissue, which are associated with severe metabolic consequences ( 1 ). (diabetesjournals.org)
  • Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. (nih.gov)
  • Congenital generalized lipodystrophy (CGL), also called Berardinelli-Seip congenital lipodystrophy, is a rare genetic disorder characterized by loss of adipose tissue and marked insulin resistance. (diabetesjournals.org)
  • Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. (frontiersin.org)
  • Better molecular understanding of lipodystrophies may lead to new therapies to treat adipose tissue dysfunction in common and rare diseases. (frontiersin.org)
  • Initially, genetic lipodystrophies were classified according to the pattern of heritability and the distribution of the lost adipose tissue, which ranges from local to partial and general. (frontiersin.org)
  • Together, these findings indicate the importance of miRNA processing in white and brown adipose tissue determination and provide a potential link between this process and HIV-related lipodystrophy. (nih.gov)
  • Lipodystrophies are disorders of adipose tissue (fat) characterized by selective loss of fat from various parts of the body. (geneticalliance.org.uk)
  • There are several different types of lipodystrophies and the degree of fat loss may vary from very small depressed areas to near complete absence of adipose tissue. (geneticalliance.org.uk)
  • Lipodystrophy is a disorder characterized by a loss of adipose tissue often accompanied by severe hypertriglyceridemia, insulin resistance, diabetes, and fatty liver. (pnas.org)
  • Lipodystrophies are disorders in the development or maintenance of adipose tissue, the storage site for triglycerides and sterol esters ( 1 - 3 ). (pnas.org)
  • A notable example of acquired partial lipodystrophy occurs in HIV-infected patients on highly active retroviral therapy (HAART) who lose subcutaneous adipose tissue from the face and limbs but gain it elsewhere, such as the upper back and neck ( 4 ). (pnas.org)
  • adiposomes) might cause lipodystrophy, because they comprise the fat storage site within adipose tissue. (pnas.org)
  • The focus of her current research is to dissect the mechanisms underlying adipose tissue dysfunction and development of obesity and lipodystrophy using both in vivo and in vitro strategies. (omicsonline.org)
  • We here describe a patient with the unique combination of acquired generalized lipodystrophy and Crohn's disease (AGLCD) featuring a lack of adipose tissue, leptin deficiency and intestinal inflammation. (fluidigm.com)
  • Lipodystrophy is an ultra-rare condition that is characterised by the irreversible loss of adipose tissue. (pharmiweb.com)
  • 1] In patients with lipodystrophy, the lack of adipose tissue results in a loss of leptin production. (pharmiweb.com)
  • Does increased aromatase activity in adipose fibroblasts cause low sexual desire in patients with HIV lipodystrophy? (bmj.com)
  • congenital generalized lipodystrophy an autosomal recessive condition marked by the virtual absence of subcutaneous adipose tissue, large body size, splenomegaly, hirsutism, acanthosis nigricans, and reduced glucose tolerance in the presence of high insulin levels. (thefreedictionary.com)
  • total lipodystrophy an autosomal recessive disorder occurring mainly in females, characterized by a generalized loss of subcutaneous fat and extracutaneous adipose tissue, present at birth or appearing later in life, and associated with hepatomegaly with abdominal protuberance, hypoglycemia and insulin-resistant nonketotic diabetes, hyperlipemia, marked elevation of the basal metabolic rate, accelerated somatic growth, advanced bone age, acanthosis nigricans and hirsutism. (thefreedictionary.com)
  • total lipodystrophy a recessive condition marked by the virtual absence of subcutaneous adipose tissue, macrosomia, visceromegaly, hypertrichosis, acanthosis nigricans, and reduced glucose tolerance in the presence of high insulin levels. (thefreedictionary.com)
  • Lipodystrophy is a medical condition of fat metabolism caused by adipose tissue accumulation and lipoatrophy (loss of fat mass). (psychiatryadvisor.com)
  • For example, people with diabetes who have to inject insulin daily tend to get localized lipodystrophy where they keep giving themselves shots. (webmd.com)
  • Lipodystrophy is a term used to describe a group of varying disorders which are characterized by abnormal loss of body fat over some or all body areas, with a strong tendency to develop insulin resistance. (news-medical.net)
  • Thus localized lipodystrophy, such as that seen in patients who use insulin subcutaneous injections over the same spot repeatedly, has few such pathologic alterations and poses a cosmetic rather than medical problem. (news-medical.net)
  • It's common to have other metabolic problems along with lipodystrophy, including high cholesterol and insulin resistance. (webmd.com)
  • Localized lipodystrophy is a skin condition characterized by the loss subcutaneous fat localized to sites of insulin injection. (wikipedia.org)
  • These T2DM patients exhibit symmetrical lipodystrophy of the distal limbs, acanthosis nigricans, marked insulin resistance with little insulin-mediated glucose uptake, hypertriglyceridemia, and hepatic transaminase elevations, which are greater in severity than observed in patients with common T2DM. (diabetesjournals.org)
  • Although growth-hormone (GH) injections can reduce fat deposits that develop in other GH-deficiency situations, high-dose injections have a number of significant side effects, including insulin resistance, already a problem for lipodystrophy patients. (innovations-report.com)
  • Lipodystrophy is a disorder where the body's fatty tissue is attacked, causing a loss of subcutaneous body fat resulting in insulin resistance, diabetes, high triglyceride and cholesterol levels, and sometimes, fatty liver disease. (rareconnect.org)
  • Lipodystrophy may be caused by repeated injections of insulin in the same spot. (sharecare.com)
  • Congenital generalized lipodystrophy (CGL), secondary to AGPAT2 mutation is characterized by the absence of adipocytes and development of severe insulin resistance. (diabetesjournals.org)
  • IN BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. (diabetesjournals.org)
  • Using lipodystrophy as a human model of leptin deficiency and replacement, we show that metreleptin improves insulin sensitivity and decreases hepatic and circulating triglycerides and that these improvements are independent of its effects on food intake. (jci.org)
  • Here, we demonstrated that mice with a fat-specific KO of dicer develop a form of lipodystrophy that is characterized by loss of intra-abdominal and subcutaneous white fat, severe insulin resistance, and enlargement and "whitening" of interscapular brown fat. (nih.gov)
  • In general, patients with lipodystrophy have high circulating levels of triglycerides, develop deposits of fat in their muscles and liver, and often acquire insulin resistance and diabetes, similar to obese patients. (pnas.org)
  • Bscl2−/− mice recapitulate many of the major metabolic manifestations in CGL2 individuals, including lipodystrophy, organomegly, hepatic steatosis and insulin resistance. (omicsonline.org)
  • Localized lipodystrophy is generally iatrogenic and secondary to medication injections (somatostatin analogs, pegvisomant, insulin), vaccines or repetitive pressure trauma. (nih.gov)
  • Localized lipodystrophy associated with insulin therapy usually resolves in a few weeks after changing the site of injection and modification of the length of the needle. (nih.gov)
  • Patients with lipodystrophy have previously relied on lifestyle changes and medications, like insulin injections to manage the condition's associated complications. (pharmiweb.com)
  • Lipodystrophy is often accompanied by metabolic complications, such as hyperlipidaemia and insulin resistance, which increase risk for cardiovascular disease. (up.ac.za)
  • Highly active antiretroviral therapy (HAART) for HIV-infection is associated with lipodystrophy, insulin resistance, increased prevalence of disturbances in glucose tolerance and diabetes, hyperlipidemia and increased cardiovascular risk. (eurekaselect.com)
  • Whether dietary intake influences total body fat, visceral fat, insulin resistance, glucose metabolism, lipid metabolism and circulating inflammatory markers in HIV-infected subjects with lipodystrophy is unclear and the focus of this report. (eurekaselect.com)
  • The mutation cosegregated with a similar phenotype including partial lipodystrophy, severe insulin resistance and type 2 diabetes, extreme hypertriglyceridemia, and nonalcoholic fatty liver disease in both families. (garvan.org.au)
  • This landmark study supports the role of leptin deficiency as a major contributor to the insulin resistance and other metabolic abnormalities seen in severe lipodystrophy. (utsouthwestern.edu)
  • Furthermore, leptin therapy may become the choice of therapy for treating these severely insulin resistant patients with lipodystrophies. (utsouthwestern.edu)
  • Acquired lipodystrophy may also appear at steroid injection sites, repeated insulin injection sites or in other injection sites like penicillin, acupuncture, iron, growth hormone and vaccines. (psychiatryadvisor.com)
  • Partial congenital lipodystrophy is associated with metabolic syndromes (including hypertension, insulin resistance, diabetes and severe hypertriglyceridemia). (psychiatryadvisor.com)
  • The cause of acquired forms of lipodystrophy has not yet been established, but currently the consensus is that it may be an autoimmune response following trauma, such as a viral infection. (news-medical.net)
  • Onset of acquired forms of lipodystrophy can occur during childhood, adolescence or adulthood. (rarediseases.org)
  • Other forms of lipodystrophy can accompany distinct disease processes, such as progeria and the acquired partial lipodystrophy in patients with HIV/AIDS, but these are generally considered separately from the forms of congenital and acquired forms described above due to unique differences in presentation and pathophysiology. (diabetesjournals.org)
  • There are numberous forms of lipodystrophy that are genetic or acquired. (rareconnect.org)
  • Hussain I, Garg A. Lipodystrophy Syndromes. (medscape.com)
  • It is noteworthy that these dysmetabolic syndromes are more severe in individuals with a larger area involved in lipodystrophy. (news-medical.net)
  • 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)
  • Lipodystrophy syndromes represent a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from the subcutaneous compartment and occasionally from visceral fat. (medscape.com)
  • The table provides a brief summary of the genotypic and phenotypic diversity of the different lipodystrophy syndromes. (mayoclinic.org)
  • Congenital generalized lipodystrophy (CGL) is one of the most well-studied lipodystrophy syndromes with over 300 reported cases in the literature. (mayoclinic.org)
  • Rare forms of acquired partial lipodystrophy associated with autoinflammatory syndromes may however be associated with significant metabolic abnormalities. (mayoclinic.org)
  • There are a vast variety of syndromes which are associated with non- HIV lipodystrophy. (doctorslounge.com)
  • The Michigan Medicine Division of Metabolism, Endocrinology and Diabetes, and the Brehm Center for Diabetes Research collectively host a major referral center for the study of lipodystrophy syndromes. (healthcanal.com)
  • The safety and efficacy of Myalepta for the treatment of metabolic disorders, associated with lipodystrophy syndromes in pediatric and adult patients, were evaluated in a long-term, open-label, single-arm study conducted under the auspices of the National Institutes of Health (NIH) in the United States. (pharmiweb.com)
  • The most prevalent form of lipodystrophy is seen in association with HIV infection (LD-HIV), with 40 to 50 percent of patients on long-term antiretroviral therapy being affected by either generalized lipoatrophy or partial fat loss involving the face and extremities. (mayoclinic.org)
  • Lipodystrophy is an acquired or inherited disorder of fat metabolism that may be clinically evident as lipohypertrophy, lipoatrophy and metabolic abnormalities. (ozon.ru)
  • This study will evaluate the safety and effectiveness of leptin replacement therapy in patients with lipodystrophy (also called lipoatrophy). (clinicaltrials.gov)
  • HIV-positive individuals who experience lipodystrophy, especially facial lipoatrophy, tend to have trouble with their body image and are more likely to become depressed and socially isolated, and to suffer from low self-esteem. (poz.com)
  • We report here the case of a patient with an unusual form of localised lipodystrophy characterized by bilateral symmetrical lipoatrophy within the third lumbar dermatome. (annals.org)
  • This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy. (nih.gov)
  • They are most frequently observed in association with repeated mechanical microtraumatism (pressure induced localized lipoatrophy) such as drug injection, but may also be seen as the sequelae of an inflammation (panniculitis-induced localized lipodystrophy). (nih.gov)
  • Drug-induced localized lipodystrophy is often observed in diabetes associated with steroid or antiretroviral treatment leading to possible android obesity, and sometimes a lipoatrophy of Bichat balls under antiretroviral drugs. (nih.gov)
  • This study aimed to compare self-reported signs of lipodystrophy with objective measures by skinfolds and circumferences, and to evaluate the prevalence of lipoatrophy (LA) and lipohypertrophy (LH) among subjects living with HIV/AIDS on ART. (biomedcentral.com)
  • In conclusion, self-reported signs of lipodystrophy and lipoatrophy are prevalent, differ by gender, and are associated with objective measurements in people living with HIV/AIDS. (biomedcentral.com)
  • Lipodystrophies are managed mainly by preventing dyslipidemia and diabetes, with their complications. (news-medical.net)
  • The metabolic complications and imbalances of lipodystrophy are a huge concern for healthcare professionals and patients. (news-medical.net)
  • A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. (nih.gov)
  • Myalepta is a treatment for the ultra-rare condition, lipodystrophy, and has been approved as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in lipodystrophy patients. (pharmiweb.com)
  • Current available treatment options have been limited, address only some of the complications of the condition and are not specialised for lipodystrophy. (pharmiweb.com)
  • Myalepta offers a long-term solution for patients and we are delighted that there is now a treatment available specifically to treat the complications of leptin deficiency in lipodystrophy which will give patients a much needed option to help improve both their disease and their quality of life. (pharmiweb.com)
  • Only interventional, prospective studies will determine whether any nutritional strategy can assist in ameliorating the metabolic complications associated with HIV lipodystrophy. (eurekaselect.com)
  • The prognosis for progressive lipodystrophy is correlated with the renal complications and the onset of renal failure. (medscape.com)
  • The association between lipodystrophy and metabolic abnormalities is also discussed briefly in this topic. (uptodate.com)
  • Recombinant leptin (metreleptin) ameliorates hyperphagia and metabolic abnormalities in leptin-deficient humans with lipodystrophy. (jci.org)
  • Autosomal recessive mandibuloacral dysplasia-associated lipodystrophy (MAD) is characterized by skeletal abnormalities, such as mandibular and clavicular hypoplasia and acroosteolysis. (thecardiologyadvisor.com)
  • The acquired lipodystrophies are mainly autoimmune in origin and display complement abnormalities. (thecardiologyadvisor.com)
  • Acquired generalized lipodystrophy is marked by a gradual loss of fat all over the body and is usually associated with autoimmune disease. (news-medical.net)
  • The most prevalent type of acquired generalized and partial lipodystophy occurs in HIV-infected patients after prolonged treatment with protease inhibitor-containing, highly-active antiretroviral therapy and is called LD-HIV (lipodystrophy in HIV-infected patients). (thecardiologyadvisor.com)
  • HAART-associated lipodystrophy is seen in HIV patients on HAART which includes protease inhibitors or nucleoside analogs. (news-medical.net)
  • In the late 1990s, reports of unusual changes in body fat distribution named 'lipodystrophy' (LD) began to appear in HIV patients mitigating the enormous enthusiasm about improvement of survival and quality of life provided by the combinations of antiretroviral (ARV) drug classes, the so-called highly active antiretroviral therapy (HAART), which had just become available at that time. (springer.com)
  • The combination drug strategy known as highly active antiretroviral therapy (HAART) can significantly reduce virus levels and help maintain health in HIV-infected individuals, but more than half may develop lipodystrophy. (innovations-report.com)
  • Patients with highly active antiretroviral therapy-associated lipodystrophy (HAART+LD+) have high plasminogen activator inhibitor-1 (PAI-1) concentrations for unknown reasons. (unboundmedicine.com)
  • Highly active antiretroviral therapy (HAART) has been associated with lipodystrophy (LD) in adults but data are more limited for children. (eurekamag.com)
  • We examined the dietary intake of 106 male HIV-infected HAART-recipients with lipodystrophy, enrolled in a study of the effects of rosiglitazone. (eurekaselect.com)
  • Objective To evaluate differences in glucose uptake by skeletal muscle tissue and subcutaneous fat in HIV patients on highly active antiretroviral therapy (HAART) presenting with and without lipodystrophy as well as in drug-naive HIV patients using F-18-fluorodeoxyglucose (FDG) positron emission tomography. (kuleuven.be)
  • Progressive lipodystrophy is the most common type of partial lipodystrophy. (medscape.com)
  • Progressive lipodystrophy is a rare condition that typically affects children and young adults. (medscape.com)
  • No specific cause or risk factor has been elucidated for progressive lipodystrophy. (medscape.com)
  • Some reports have shown a correlation of progressive lipodystrophy with prior acute viral or bacterial infection. (medscape.com)
  • progressive lipodystrophy progressive and symmetrical loss of subcutaneous fat from the parts above the pelvis, facial emaciation, and abnormal accumulation of fat about the thighs and buttocks. (thefreedictionary.com)
  • Progressive lipodystrophy is rare, with fewer than 200 cases reported in the world literature since the first case was reported in 1885. (medscape.com)
  • No racial predilection is reported for progressive lipodystrophy. (medscape.com)
  • Progressive lipodystrophy is 4-5 times more common in women than in men. (medscape.com)
  • Of patients with progressive lipodystrophy, 80% are females. (medscape.com)
  • Progressive lipodystrophy typically starts in individuals aged 0-20 years, with most cases starting before individuals are aged 15 years. (medscape.com)
  • Progressive lipodystrophy tends to develop earlier in most male patients compared with female patients. (medscape.com)
  • Acquired progressive lipodystrophy is a nonfatal condition, but it is frequently associated with mesangiocapillary glomerulonephritis, which can lead to renal insufficiency. (medscape.com)
  • Patients with progressive lipodystrophy are born healthy with a normal appearance and fat distribution. (medscape.com)
  • Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy. (medscape.com)
  • We conclude that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes. (nih.gov)
  • Mutations in a variety of genes can lead to the various subtypes of congenital lipodystrophy ( 1 ). (diabetesjournals.org)
  • So far homozygous and compound heterozygous mutations in AGPAT2 have only been associated with generalized lipodystrophy. (frontiersin.org)
  • Inherited lipodystrophies are caused by mutations (alterations or blips) in a gene. (geneticalliance.org.uk)
  • The most severe inherited form is Berardinelli-Seip Congenital Lipodystrophy Type 2, associated with mutations in the BSCL2 gene. (pnas.org)
  • Human seipin can functionally replace yeast seipin, but a missense mutation in human seipin that causes lipodystrophy, or corresponding mutations in the yeast gene, render them unable to complement. (pnas.org)
  • Mutations in BSCL2 gene underlie human Congenital Generalized Lipodystrophy type 2 (CGL2) diseases. (omicsonline.org)
  • Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive condition caused by mutations of the AGPAT2 gene or the BSCL2 gene. (springer.com)
  • Mutations in the transcription factor peroxisome proliferator activated receptor (PPAR)γ and a number of its downstream target genes result in lipodystrophy. (metabolomicscentre.nl)
  • Generalized congenital lipodystrophy is generalized loss of body fat with gene mutations of seipin or AGPAT2 gene. (psychiatryadvisor.com)
  • Your chances of experiencing lipodystrophy go up when HIV is more severe and you've had it for a long time. (webmd.com)
  • There was a trend toward lower FMD in people on ARVs, who had more severe lipodystrophy, but this did not reach statistical significance, meaning that the association could have occurred by chance. (poz.com)
  • I also had a severe Vit D deficiency and after taking D3 for a few months, the lipodystrophy improved a little. (doctorslounge.com)
  • The most severe lipodystrophies are the Berardinelli-Seip congenital generalized forms. (pnas.org)
  • Lipodystrophy is an ultra-rare and incurable disease which impacts a person's ability to store fat in their body, and can either be generalised (GL) or partial (PL).[1] The condition is associated with a number of critical metabolic problems, such as severe diabetes, and can cause severe organ damage if uncontrolled. (pharmiweb.com)
  • Dr. Garg and his collaborators at the National Institutes of Diabetes, Digestive and Kidney Diseases, NIH reported beneficial effects of leptin replacement therapy on glycemic control, lipoprotein levels and hepatic steatosis in patients with severe lipodystrophy and leptin deficiency. (utsouthwestern.edu)
  • Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. (scirp.org)
  • Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. (scirp.org)
  • These types of lipodystrophies are harmless and can be avoided by changing (rotating) the locations of injections. (wikipedia.org)
  • Some types of lipodystrophies may be associated with osteopenia, osteosclerosis and myopathies. (doctorslounge.com)
  • No matter how much people with lipodystrophy or other conditions that cause hypoleptinemia eat, they can experience feelings of constant hunger. (news-medical.net)
  • People with lipodystrophy, such as John Wallace and Andrew Fullem, lobbied the legislature for relief. (glad.org)
  • People with lipodystrophy have only been able to get medical treatment if they lawyered up and threatened to sue their insurer," said Klein. (glad.org)
  • Tesamoralin (Egrifta), made by Theratechnologies is a growth hormone inducer that reduces visceral fat in people with lipodystrophy. (aidsinfonet.org)
  • The visceral fat that people with lipodystrophy gain in their abdomen is problematic. (sfaf.org)
  • People with lipodystrophy tend to be the longest-term survivors of HIV, and that population is small and shrinking. (glad.org)
  • The prevalence of lipodystrophy ranges from 31 to 65%, depending on the criteria adopted for diagnosis. (biomedcentral.com)
  • While it used to be more common with older antiretroviral (ART) treatments for HIV, better control of HIV and newer antiretroviral drugs make the development of lipodystrophy. (webmd.com)
  • Diabetes often occurs after the development of lipodystrophy, but in some cases may occur almost simultaneously. (rarediseases.org)
  • Even though the aetiology remains unclear, the following factors have been implicated in the development of lipodystrophy: HIV itself, older age, female sex, genetic parameters and ART. (thefreelibrary.com)
  • Many studies have implicated stavudine (d4T) and zidovudine (AZT) in the development of lipodystrophy and this is generally uncontested. (thefreelibrary.com)
  • Interestingly, fat samples from patients with HIV-related lipodystrophy exhibited a substantial downregulation of dicer mRNA expression. (nih.gov)
  • The only form of the condition which is more commonly picked up is generalised lipodystrophy, because it's a much more extreme version of the condition, where there's no subcutaneous fat whatsoever. (news-medical.net)
  • Individuals with this form of lipodystrophy experience the loss of subcutaneous fat from the face, neck, and arms and legs. (rarediseases.org)
  • Lipodystrophy is a condition, commonly associated with HIV patients globally, wherein there is a considerable loss of subcutaneous fat through the body. (sbwire.com)
  • Inflammation of subcutaneous fat (panniculitis) and progressive hemifacial atrophy are also called acquired lipodystrophy. (psychiatryadvisor.com)
  • Localized abdominal idiopathic lipodystrophy. (medscape.com)
  • Acquired lipodystrophies may occur in association with other autoimmune disorders or panniculitis, or may be idiopathic. (mayoclinic.org)
  • Acquired lipodystrophies can be caused by medications, autoimmunity or for unknown reasons (idiopathic). (rarediseases.org)
  • The etiology for idiopathic localized lipodystrophy and centrifugal localized lipodystrophy remains unknown. (nih.gov)
  • Two Berardinelli-Seip Congenital Lipodystrophy (BSCL) genes have thus far been identified. (pnas.org)
  • Your search returned 1 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ELISA ELISA Kit across 1 supplier. (biocompare.com)
  • Clinical and molecular aspects of Berardinelli-Seip congenital lipodystrophy (BSCL). (springer.com)
  • Van Maldergem L. Berardinelli-Seip congenital lipodystrophy. (springer.com)
  • This conventional categorization of the lipodystrophies encompasses a heterogeneous group of rare disorders. (diabetesjournals.org)
  • Lipodystrophy often follows an autosomal dominant inheritance pattern that is not sex-linked, meaning offspring have a fifty per cent chance of inheriting the condition. (news-medical.net)
  • Other lipodystrophies manifest as lipid redistribution, with excess, or lack of, fat in various regions of the body. (wikipedia.org)
  • In addition to detecting seipin, the screen identified 58 other genes whose deletions cause aberrant lipid droplets, including 2 genes encoding proteins known to activate lipin, a lipodystrophy locus in mice, and 16 other genes that are involved in endosomal-lysosomal trafficking. (pnas.org)
  • The genes identified in our screen should be of value in understanding the pathway of lipid droplet biogenesis and maintenance and the cause of some lipodystrophies. (pnas.org)
  • Hunter, R. C , and Ward, J. R. Intestinal lipodystrophy (Whipple's Disease) treated with ACTH and corticosteroids. (springer.com)
  • intestinal lipodystrophy former name for Whipple's disease . (thefreedictionary.com)
  • Accordingly, both acquired and genetic lipodystrophy may be associated with either a generalized or a partial lipodystrophy phenotype. (mayoclinic.org)
  • CONCLUSIONS T2DM with PLL represents a previously unrecognized phenotype of lipodystrophy and of T2DM. (diabetesjournals.org)
  • The FDA decision was based on findings from two clinical trials involving 816 HIV-infected adult men and women with lipodystrophy and excess abdominal fat. (medpagetoday.com)
  • OBJECTIVE: We report seven patients with acromegaly treated with pegvisomant who developed lipodystrophy at the site of injection (anterior abdominal wall, thigh, buttock, and upper arm). (biomedsearch.com)
  • Lipodystrophy can include loss of fat under the skin (e.g., on the face, arms, legs, and other places on the body), development of a "buffalo hump," and/or increased abdominal fat. (sfaf.org)
  • Partial lipodystrophy results in fat loss typically in the arms, legs, head and torso, and fat accumulation in the neck, face and intra-abdominal areas of the body. (healthcanal.com)
  • RESULTS: Of 1035 participants, 50% appeared to have probable lipodystrophy, with 36% reporting peripheral wasting, 33% abdominal weight gain, 6% buffalo hump, and 10 and 12% increased triglyceride or cholesterol levels, respectively. (ubc.ca)
  • We examined whether a group of patients with partial lipodystrophy of the limbs (PLL), type 2 diabetes mellitus (T2DM), and an absence of a family history of lipodystrophy constitute a new clinical subtype. (diabetesjournals.org)
  • In addition to the high rates of lipodystrophy observed in patients using this WHO recommended first-line combination, the study highlighted the importance of anthropomorphic and metabolic parameters in resource poor countries and in particular these markers of risk for future cardiovascular disease and type-2 diabetes mellitus. (i-base.info)
  • New insights from research and clinical trials could potentially revolutionize the lipodystrophy management. (ozon.ru)
  • Risk factors, clinical manifestations, and diagnosis of human immunodeficiency virus (HIV)-associated lipodystrophy will be discussed here. (uptodate.com)
  • ConjuChem Biotechnologies Inc. provided findings of its investigation into the death of a patient that occurred in its Phase II clinical trial of DAC(TM):GRF in HIV Lipodystrophy. (natap.org)
  • In an adult female patient with clinical and metabolic features of partial lipodystrophy we identified via whole genome sequencing (WGS) a single complex AGPAT2 allele [V67M;V167A], functionally equivalent to heterozygosity. (frontiersin.org)
  • Our data support the view that the current classification of lipodystrophies as strictly local, partial or generalized may have to be re-evaluated and viewed more as a continuum, both in terms of clinical presentation and underlying genetic causes. (frontiersin.org)
  • Professor Sir Stephen O'Rahilly, Professor of Clinical Biochemistry and Medicine at Addenbrooke's Hospital, Cambridge, said, "Lipodystrophy is a rare condition which, due to its complex nature, requires highly specialised treatment. (pharmiweb.com)
  • Lipodystrophy can be a possible side effect of antiretroviral drugs. (wikipedia.org)
  • Lipodystrophy is also associated with human immunodeficiency virus (HIV) because of long-term treatment with antiretroviral drugs (protease inhibitors and nucleoside reverse transcriptase inhibitors). (psychiatryadvisor.com)
  • Recently, he identified two patterns of lipodystrophy in patients with mandibuloacral dysplasia which has led him to identify another gene, ZMPSTE24 besides LMNA, for this disorder. (utsouthwestern.edu)
  • Generalized lipodystrophy results in a total of loss of subcutaneous body fat, and partial results in a loss of some fat in different areas of the body depending on the cause of that particular case of lipodystrophy. (news-medical.net)
  • At least 14 other genes have been implicated in genetic lipodystrophies ( Patni and Garg, 2015 ). (frontiersin.org)
  • Several genes responsible for different types of inherited lipodystrophies have been identified. (geneticalliance.org.uk)
  • At BCM, she established two animal models based on genes that are associated with non-alcoholic fatty liver disease (NALFD) and human congenital generalized lipodystrophy (CGL) and characterized their functions in energy metabolism. (omicsonline.org)
  • The lipodystrophies are a group of rare, genetic or acquired disorders characterized by generalized (nearly the entire body) or partial (limbs only) loss of body fat, with fat hypertrophy in other depots when partial. (thecardiologyadvisor.com)
  • People living with lipodystrophy who have survived the AIDS epidemic will no longer be consigned to lives as shut-ins or objects of ridicule," said Ben Klein, Director of the AIDS Law Project for GLBTQ Legal Advocates & Defenders (GLAD). (glad.org)
  • I developed non- AIDS lipodystrophy that makes it uncomfortable to sit, walk, etc. because of loss of padding. (doctorslounge.com)
  • a ) Patient 1 (aged 15yrs), demonstrating prominent lipodystrophy, small nose, "pseudo"-proptosis, secondary to lack of subcutaneous periorbital fat, tight skin, mandibular hypoplasia, bilateral hearing aids and reduced limb muscles. (nih.gov)
  • In an open-label study, funded by the National Institutes of Health, the research team predicted the response of 23 patients with partial lipodystrophy-associated nonalcoholic steatohepatitis (fatty liver) to metreleptin, a man-made version of the naturally occurring hormone leptin, which regulates fat and glucose metabolism. (healthcanal.com)
  • For medical professionals familiar with lipodystrophy-associated conditions and actively look for it in patients, the physical implications including muscular legs and arms, sometimes a retention of visceral fat around the torso area, face, and on the neck and back, can be quite obvious. (news-medical.net)
  • It reduces visceral fat accumulation in lipodystrophy. (thebody.com)
  • Lipodystrophy is easy to diagnose if clinicians know which symptoms are relevant for the condition. (news-medical.net)
  • The specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of acquired lipodystrophy and the presence and extent of associated symptoms. (rarediseases.org)
  • In addition, both participants and their physicians noted improvement in lipodystrophy symptoms in the GHRH group, and those participants also expressed significantly greater satisfaction with their overall appearance. (innovations-report.com)
  • Lipodystrophy isn't one particular ailment: it's actually a constellation of signs and symptoms that people living with HIV can experience. (sfaf.org)
  • Participants will be evaluated for lipodystrophy, asked to complete food & gastrointestinal symptoms questionnaires and provide stool samples. (centerwatch.com)
  • However, the genetic lipodystrophies are rare and, as of 2011, have only been reported in about 1000 people. (thecardiologyadvisor.com)
  • This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males. (nih.gov)
  • The problem is, many doctors and consultants within the medical community have not experienced a case of lipodystrophy before, even in diabetes clinics and endocrine clinics, so they are unfamiliar with the condition. (news-medical.net)
  • Vinaya Simha, MBBS, M.D. , an endocrinology consultant at Mayo Clinic's campus in Rochester, Minnesota, says: "While the first reported case of lipodystrophy dates back to the late 19th century, much progress has occurred in the past decade in understanding both the molecular mechanisms of fat loss and its optimal treatment. (mayoclinic.org)
  • The authors acknowledge that an association between lipodystrophy might have become apparent if they had a larger number of study participants or had measured changes in fat and FMD over time. (poz.com)