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Sharon Grundfest-Broniatowski, JingLiang Yan, Matthew Kroh, Holly Kilim, Andrew Stephenson
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years...
October 24, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Madhusudanarao Vuda, Ashwin Kamath
Several commonly used medications impair mitochondrial function resulting in adverse effects or toxicities. Drug induced mitochondrial dysfunction may be a consequence of increased production of reactive oxygen species, altered mitochondrial permeability transition, impaired mitochondrial respiration, mitochondrial DNA damage or inhibition of beta-oxidation of fatty acids. The clinical manifestation depends on the specific drug and its effect on mitochondria. Given the ubiquitous presence of mitochondria and its central role in cellular metabolism, drug-mitochondrial interactions may manifest clinically as hepatotoxicity, enteropathy, myelosuppression, lipodystrophy syndrome or neuropsychiatric adverse effects, to name a few...
October 19, 2016: Mitochondrion
Vani P Sanon, Yehuda Handelsman, Son V Pham, Robert Chilton
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. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a markedly deranged metabolic milieu. Future research that targets leptin deficiency (metreleptin) and apoC3 mRNA (antisense oligonucleotide) could open a window for potential pharmacological treatment of this challenging disorder...
October 2016: Clinical Diabetes: a Publication of the American Diabetes Association
Rafael E Pedro, Débora A Guariglia, Sidney B Peres, Solange M Moraes
BACKGROUND: Human immunodeficiency virus-associated lipodystrophy syndrome (HALS) is a major problem among people living with HIV/aids. The exercise training has been used for its treatment; however, the knowledge about benefits and safety still is emerging. The aim was systematically review the literature for physiological, metabolic, immunologic, and morphologic adaptations to aerobic, resistance, and concurrent training in people living with HALS. METHODS: A search of the Medline, Embase, Cinahl, Lilacs, Scielo, Web of Science, the Cochrane Controlled Trials Register Library and PEDro was performed...
October 20, 2016: Journal of Sports Medicine and Physical Fitness
Ana C Puhl, Paul Webb, Igor Polikarpov
Loss-of-function mutation V290M in the ligand-binding domain of the peroxisome proliferator activated receptor γ (PPARγ) is associated with a ligand resistance syndrome (PLRS), characterized by partial lipodystrophy and severe insulin resistance. In this data article we discuss an X-ray diffraction dataset that yielded the structure of PPARγ LBD V290M mutant refined at 2.3 Å resolution, that allowed building of 3D model of the receptor mutant with high confidence and revealed continuous well-defined electron density for the partial agonist diclofenac bound to hydrophobic pocket of the PPARγ...
June 2016: Data in Brief
Amit R Majithia, Ben Tsuda, Maura Agostini, Keerthana Gnanapradeepan, Robert Rice, Gina Peloso, Kashyap A Patel, Xiaolan Zhang, Marjoleine F Broekema, Nick Patterson, Marc Duby, Ted Sharpe, Eric Kalkhoven, Evan D Rosen, Inês Barroso, Sian Ellard, Sekar Kathiresan, Stephen O'Rahilly, Krishna Chatterjee, Jose C Florez, Tarjei Mikkelsen, David B Savage, David Altshuler
Clinical exome sequencing routinely identifies missense variants in disease-related genes, but functional characterization is rarely undertaken, leading to diagnostic uncertainty. For example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D). Although approximately 1 in 500 people harbor missense variants in PPARG, most are of unknown consequence. To prospectively characterize PPARγ variants, we used highly parallel oligonucleotide synthesis to construct a library encoding all 9,595 possible single-amino acid substitutions...
October 17, 2016: Nature Genetics
Zulfa Abrahams, Naomi Levitt, Maia Lesosky, Gary Maartens, Joel Dave
Long-term use of antiretroviral therapy (ART) increases the risk of developing lipodystrophy. Few studies from Africa have used longitudinal data to assess the development of lipoatrophy and lipohypertrophy. We use clinical anthropometry and dual-energy X-ray absorptiometry (DEXA) to describe changes in body fat distribution over a 24-month period in individuals initiated on ART. A convenience sample of black South Africans (55 men and 132 women) were recruited and followed for 24 months after commencing ART...
October 2016: AIDS Patient Care and STDs
L Dollet, J Magré, M Joubert, C Le May, A Ayer, L Arnaud, C Pecqueur, V Blouin, B Cariou, X Prieur
Loss-of-function mutations in BSCL2 are responsible for Berardinelli-Seip congenital lipodystrophy, a rare disorder characterized by near absence of adipose tissue associated with insulin resistance. Seipin-deficient (Bscl2(-/-)) mice display an almost total loss of white adipose tissue (WAT) with residual brown adipose tissue (BAT). Previous cellular studies have shown that seipin deficiency alters white adipocyte differentiation. In this study, we aimed to decipher the consequences of seipin deficiency in BAT...
October 17, 2016: Scientific Reports
E D Rosen
Insulin resistance is one of the defining features of type 2 diabetes and the metabolic syndrome and accompanies many other clinical conditions, ranging from obesity to lipodystrophy to glucocorticoid excess. Extraordinary efforts have gone into defining the mechanisms that underlie insulin resistance, with most attention focused on altered signalling as well as mitochondrial and endoplasmic reticulum stress. Here, nuclear mechanisms of insulin resistance, including transcriptional and epigenomic effects, will be discussed...
October 14, 2016: Journal of Internal Medicine
Leandro Kasuki, Evelyn de Oliveira Machado, Liana Lumi Ogino, Maria Caroline Alves Coelho, Cintia Marques Dos Santos Silva, Luiz Eduardo Armondi Wildemberg, Carlos Henrique Azeredo Lima, Mônica R Gadelha
Objective: To describe the safety and efficacy of pegvisomant therapy and the predictors of treatment response in acromegaly patients at a single tertiary reference center in Brazil. Materials and methods: We retrospectively reviewed the clinical, hormonal and radiological data of acromegaly patients treated with pegvisomant in our center. We also evaluated the presence of the d3 isoform of the growth hormone receptor (d3GHR). Results: Twenty-seven patients were included (17 women)...
October 10, 2016: Archives of Endocrinology and Metabolism
S K Singh, R M Verghese, S Sundaray, N Kaur, V K Sashindran
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
J Shashibhushan, Mahesh Menon
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Bing Han, Courtney A Copeland, Yumeko Kawano, Erika Berman Rosenzweig, Eric D Austin, Layla Shahmirzadi, Sha Tang, Krishnan Raghunathan, Wendy K Chung, Anne K Kenworthy
Congenital generalized lipodystrophy (CGL) and pulmonary arterial hypertension (PAH) have recently been associated with mutations in the caveolin-1 (CAV1) gene, which encodes the primary structural protein of caveolae. However, little is currently known about how these CAV1 mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X CAV1 mutation predicted to generate a C-terminally truncated mutant protein in a patient with both PAH and CGL using whole exome sequencing, and characterize the properties of CAV1, caveolae-associated proteins, and caveolae in skin fibroblasts isolated from the patient...
September 26, 2016: Traffic
Davy Vancampfort, James Mugisha, Simon Rosenbaum, Joseph Firth, Marc De Hert, Michel Probst, Brendon Stubbs
Cardiorespiratory fitness (CRF) is a modifiable risk factor for cardiovascular disease and premature mortality. CRF levels and moderators among people living with HIV (PLWH) are unknown. The aim of the current meta-analysis was to (1) determine mean CRF in PLWH and compare levels with age- and gender-matched healthy controls (HCs), (2) explore moderators of CRF, (3) and (4) explore moderators of CRF outcomes following physical activity (PA) interventions. Major electronic databases were searched systematically for articles reporting CRF expressed as maximum or peak oxygen uptake (ml/min/kg) in PLWH...
October 3, 2016: Preventive Medicine
Rebecca J Brown, David Araujo-Vilar, Pik To Cheung, David Dunger, Abhimanyu Garg, Michelle Jack, Lucy Mungai, Elif A Oral, Nivedita Patni, Kristina Rother, Julia von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne Vigouroux, Martin Wabitsch, Rachel Williams, Tohru Yorifuji
OBJECTIVE: Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. PARTICIPANTS: Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
Zhao Zhang, Emre Turer, Xiaohong Li, Xiaoming Zhan, Mihwa Choi, Miao Tang, Amanda Press, Steven R Smith, Adeline Divoux, Eva Marie Y Moresco, Bruce Beutler
We describe a metabolic disorder characterized by lipodystrophy, hepatic steatosis, insulin resistance, severe diabetes, and growth retardation observed in mice carrying N-ethyl-N-nitrosourea (ENU)-induced mutations. The disorder was ascribed to a mutation of kelch repeat and BTB (POZ) domain containing 2 (Kbtbd2) and was mimicked by a CRISPR/Cas9-targeted null allele of the same gene. Kbtbd2 encodes a BTB-Kelch family substrate recognition subunit of the Cullin-3-based E3 ubiquitin ligase. KBTBD2 targeted p85α, the regulatory subunit of the phosphoinositol-3-kinase (PI3K) heterodimer, causing p85α ubiquitination and proteasome-mediated degradation...
October 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
Ove Andersen
HIV-associated lipodystrophy syndrome frequently presents as a relative lack of peripheral adipose tissue storage combined with an increase in visceral fat, associated with insulin resistance and dyslipidaemia. This thesis discusses explanations for the links between abnormalities in glucose metabolism, the steroid synthesis pathway, the growth hormone-insulin growth factor-1 axis, and chronic changes in adipose tissue distribution. Specifically, the mechanisms by which low-grade inflammation may affect the normal stimulatory effect of insulin on glucose and fat storage are reviewed...
October 2016: Danish Medical Journal
Ecaterina Constanța Barbu, Cristina Emilia Chiţu-Tișu, Mihai Lazăr, Cristina Mihaela Olariu, Dan Olteanu, Mihai Bojincă, Adrian Octavian Abagiu, Victoria Aramă, Daniela Adriana Ion, Ioana Anca Bădărău
AIMS: We aimed to quantify global and regional body composition changes in chronic hepatitis C (CHC) patients, compare them to healthy controls and identify possible association between body composition changes and CHC. To our knowledge, this study is the first one comparing CHC patients to controls with regard to soft tissue body composition changes. METHODS: We assessed 60 CHC patients and 60 healthy controls by Dual Energy X-Ray Absorptiometry. Soft tissue and bone body composition parameters were compared between the groups (using the Mann-Whitney test)...
September 2016: Journal of Gastrointestinal and Liver Diseases: JGLD
Sumeshni Birbal, Mukesh Dheda, Elizabeth Ojewole, Frasia Oosthuizen
South Africa has one of the highest prevalences of HIV and AIDS in the world. HIV/AIDS patients face countless challenges, one of which is the risk of adverse drug reactions (ADRs). This study aimed to describe the ADRs reported in South Africa with reference to the type of ADRs, antiretrovirals (ARVs) implicated, seriousness of the ADRs and patient demographics associated with specific ADRs. A retrospective quantitative study was carried out using ADR reports submitted to the National Department of Health (NDoH) from 1 January 2010 to 31 December 2014...
September 2016: African Journal of AIDS Research: AJAR
Francisca Rodrigues, Ana Catarina Alves, Claudia Nunes, Bruno Sarmento, M Helena Amaral, Salette Reis, M Beatriz P P Oliveira
The aim of the present work was to develop and evaluate the potential of nanostructured lipid carriers associated with caffeine extracted from Coffee Silverskin (NLC-CS), a food by-product, as a new possible topical therapy of cellulitis. Caffeine gain increasing research interest due to their cosmetic potential, particularly in gynoid lipodystrophy, commonly known as cellulite. NLC-CS were prepared via double emulsion technique using polysorbate 60 as surfactant and characterized for their morphology, particle size, zeta potential, association encapsulation and stability...
September 20, 2016: International Journal of Pharmaceutics
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