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Lipodystrophy

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https://www.readbyqxmd.com/read/28448764/mechanistic-insights-into-osteoporosis-in-patients-with-lipodystrophy-and-review-of-the-literature
#1
Lanhui Huang, Hong Shi, Xinli Zhou
OBJECTIVE: To demonstrate the underlying pathogenesis of osteoporosis occurring in patients with lipodystrophy. METHODS: MEDLINE was searched using the following key terms: lipodystrophy, osteoporosis and reduced bone mineral density. Additional studies were obtained from the bibliographies of reports and reviews above by manual search. RESULTS: Lipodystrophy is a very rare disease characterized by pathologic alterations in the distribution of adipose tissues in association with a diverse range of metabolic derangements such as hypertriglyceridemia, insulin resistance, diabetes and abnormal bone formation...
April 27, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28447407/wiedemann-rautenstrauch-syndrome-a-phenotype-analysis
#2
Stefano Paolacci, Debora Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, Raoul C Hennekam
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely...
April 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28447302/comment-on-the-new-indian-injection-technique-recommendations-critical-appraisal-of-the-real-world-implementation-of-the-current-guidelines
#3
Felice Strollo, Sandro Gentile
With an eye on the sequence of two Indian papers concurrently published in Diabetes Therapy, this paper analyzes skin differences among races and points to a lack of organized structured education sessions as the main cause of the high prevalence of lipodystrophy (LD) and consequent poor metabolic control. Only half of all insulin-treated patients reach their therapeutic targets worldwide. The factors involved in this are manifold, including the choice of overlong and repeatedly reused needles, as well as a failure to systematically rotate injection sites, all of which lead to skin LD...
April 26, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#4
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#5
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
https://www.readbyqxmd.com/read/28414270/human-biallelic-mfn2-mutations-induce-mitochondrial-dysfunction-upper-body-adipose-hyperplasia-and-suppression-of-leptin-expression
#6
Nuno M Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen I O'Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth. We describe similar massive adipose overgrowth with suppressed leptin expression in four further patients with biallelic MFN2 mutations and at least one p.Arg707Trp allele. Overgrown tissue was composed of normal-sized, UCP1-negative unilocular adipocytes, with mitochondrial network fragmentation, disorganised cristae, and increased autophagosomes...
April 17, 2017: ELife
https://www.readbyqxmd.com/read/28408391/lmna-associated-partial-lipodystrophy-anticipation-of-metabolic-complications
#7
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
BACKGROUND: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. METHODS: This retrospective study of the largest cohort of patients with FPLD2 reported to date investigates 85 patients from 24 families comprising three generations (G1: n=39; G2: n=41; G3: n=5)...
April 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28403619/insulin-like-growth-factor-is-associated-with-changes-in-body-composition-with-art-initiation
#8
Kristine M Erlandson, Suzanne P Fiorillo, Sandra Wagner Cardoso, Cynthia Rivere, Jorge Sanchez, James Hakim, Nagalingeswaran Kumarasamy, Sharlaa Badal-Fasesen, Umesh Lalloo, Johnstone J Kumwenda, Thomas B Campbell, Todd Brown
BACKGROUND: Growth hormone (GH)/insulin-like growth factor (IGF)-1 axis abnormalities have been associated with body composition changes among HIV-infected persons with wasting or lipodystrophy. Little is known of GH/IGF-1 axis alterations with ART initiation or differing ART therapies. METHODS: The AIDS Clinical Trials Group Prospective Evaluation of Antiretrovirals in Resource- Limited Settings (PEARLS) study was a prospective, randomized clinical trial of ART initiation with emtricitabine/tenofovir + efavirenz (FTC/TDF+EFV) vs lamivudine/zidovudine + efavirenz (3TC/ZDV+EFV) in HIV-1-infected individuals from resource-diverse settings...
April 12, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28398958/new-onset-diabetes-in-hiv-treated-adults-from-thailand-predictors-long-term-renal-and-cardiovascular-outcomes
#9
Opass Putcharoen, Lalita Wattanachanya, Jiratchaya Sophonphan, Sarawut Siwamogsatham, Vorapot Sapsirisavat, Sivaporn Gatechompol, Supalak Phonphithak, Stephen J Kerr, Yingyos Avihingsanon, Kiat Ruxrungtham, Anchalee Avihingsanon
OBJECTIVE: To determine the incidence and risk factors for developing diabetes mellitus (DM) in a cohort of Thai HIV-infected patients on long-term combination antiretroviral therapy (cART). DESIGN: Prospective study conducted between July 1996-April 30, 2015. METHODS: 1,748 subjects (60% males) who did not have DM prior to ART were assessed twice a year. Incident DM was defined as either having two consecutive fasting glucose levels >126 mg/dL, or reporting anti-DM medication/ DM diagnosis after starting cART...
April 10, 2017: AIDS
https://www.readbyqxmd.com/read/28390904/normal-bone-density-and-trabecular-bone-score-but-high-serum-sclerostin-in-congenital-generalized-lipodystrophy
#10
Josivan Gomes Lima, Lucia Helena C Nobrega, Natalia Nobrega Lima, Marcel Catão Ferreira Dos Santos, Maria de Fatima P Baracho, Renaud Winzenrieth, Francisco Bandeira, Carolina de O Mendes-Aguiar, Francisco Paulo Freire Neto, Leonardo Capistrano Ferreira, Clifford J Rosen, Selma Maria B Jeronimo
CONTEXT: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty in storing lipids in adipocytes, low body fat mass, hypoleptinemia, and hyperinsulinemia. Sclerostin is a product of SOST gene that blocks the Wnt/β-catenin pathway, decreasing bone formation and enhancing adipogenesis. There are no data about sclerostin in people with BSCL. OBJECTIVE: We aimed to evaluate serum sclerostin, bone mineral density (BMD), and L1-L4 Trabecular Bone Score (TBS) in BSCL patients, generating new knowledge about potential mechanisms involved in the bone alterations of these patients...
April 6, 2017: Bone
https://www.readbyqxmd.com/read/28371314/temporary-resolution-of-insulin-requirement-in-acquired-partial-lipodystrophy-associated-with-chronic-graft-versus-host-disease
#11
Leslie Kimura, Griselda Alvarez, Ning Li, Anna Pawlikowska-Haddal, Theodore B Moore, Jacqueline Casillas, Kuk-Wha Lee
This is a case presentation describing a high insulin requirement that suddenly resolved in a patient with acute lymphoblastic leukemia treated with stem cell transplantation complicated by chronic graft-versus-host disease. The patient was diagnosed with acquired partial lipodystrophy that did not require alternative therapies such as leptin or insulin-like growth factor 1.
March 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28369019/in-vivo-effects-of-retrobulbar-bimatoprost-injection-on-orbital-fat
#12
Kian Eftekhari, M Reza Vagefi, Vivian Lee, James Z Hui, Menglong Zhu, Kimberly Dine, Richard L Anderson, Brigitte Koeberlein, Reas Sulaimankutty, Kenneth S Shindler
PURPOSE: Recent publications have reported the adverse effects of prostaglandin analogues on the periocular tissues. These medications may cause periorbital lipodystrophy, enophthalmos, and deepening of the superior sulcus deformity. While these effects may have adverse consequences for some patients, the atrophy of the periorbital fat may have a useful role in diseases that lead to orbital and periorbital fat hypertrophy such as thyroid eye disease. In this pilot study, the authors investigated the effects of retrobulbar bimatoprost injection on the intraocular pressure and orbital fat in a rat animal model...
March 31, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28339344/correlation-of-leptin-adiponectin-and-resistin-levels-in-different-types-of-lipodystrophy-in-hiv-aids-patients
#13
Danica Srdic, Al Musalhi Khawla, Ivan Soldatovic, Jelena Nikolic, Djordje Jevtovic, Devaki Nair, Gordana Dragovic
BACKGROUND: Leptin, adiponectin, and resistin may play an important role in the development of lipodystrophy (LD) in HIV/AIDS patients. The aim of this study was to correlate levels of leptin, adiponectin, and resistin between HIV/AIDS patients with LD and without lipodystrophy (non-LD), as well as between subgroups of LD [lipoatrophy (LA), lipohypertrophy (LH), and mixed fat redistribution (MFR)] and non-LD patients. METHODS: Cross-sectional study of 66 HIV/AIDS patients...
April 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28330852/a-controlled-release-mitochondrial-protonophore-reverses-hypertriglyceridemia-nonalcoholic-steatohepatitis-and-diabetes-in-lipodystrophic-mice
#14
Abudukadier Abulizi, Rachel J Perry, João Paulo G Camporez, Michael J Jurczak, Kitt Falk Petersen, Patricia Aspichueta, Gerald I Shulman
Lipodystrophy is a rare disorder characterized by complete or partial loss of adipose tissue. Patients with lipodystrophy exhibit hypertriglyceridemia, severe insulin resistance, type 2 diabetes, and nonalcoholic steatohepatitis (NASH). Efforts to ameliorate NASH in lipodystrophies with pharmacologic agents have met with limited success. We examined whether a controlled-release mitochondrial protonophore (CRMP) that produces mild liver-targeted mitochondrial uncoupling could decrease hypertriglyceridemia and reverse NASH and diabetes in a mouse model (fatless AZIP/F-1 mice) of severe lipodystrophy and diabetes...
March 22, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28325087/physical-activity-correlates-in-people-living-with-hiv-aids-a-systematic-review-of-45-studies
#15
Davy Vancampfort, James Mugisha, Justin Richards, Marc De Hert, Michel Probst, Brendon Stubbs
PURPOSE: Understanding barriers and facilitators of physical activity participation in persons living with HIV/AIDS is an essential first step in order to devise effective interventions. The present review provides a systematic quantitative review of the physical activity correlates in people with HIV/AIDS. METHODS: Major electronic databases were searched till August 2016. Keywords included "physical activity" or "exercise" or "sports" and "AIDS" or "HIV". RESULTS: Out of 55 correlates from 45 studies (N = 13,167; mean age range = 30...
March 22, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28324110/effects-of-metreleptin-in-pediatric-patients-with-lipodystrophy
#16
Rebecca J Brown, Cristina Adelia Meehan, Elaine Cochran, Kristina I Rother, David E Kleiner, Mary Walter, Phillip Gorden
Context: Lipodystrophy syndromes are rare disorders of deficient adipose tissue. Metreleptin, a human analog of leptin, improved metabolic abnormalities in mixed cohorts of leptin-deficient children and adults with lipodystrophy. Objective: Determine effects of metreleptin on diabetes, hyperlipidemia, non-alcoholic fatty liver disease (NAFLD), growth, and puberty in leptin-deficient pediatric patients with lipodystrophy. Design: Prospective, single-arm, open-label studies with continuous enrollment since 2000...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28320010/sodium-glucose-cotransporter-2-inhibitor-improves-complications-of-lipodystrophy-a-case-report
#17
Yohei Kawana, Junta Imai, Shojiro Sawada, Tetsuya Yamada, Hideki Katagiri
No abstract text is available yet for this article.
March 21, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28300834/heterodimers-of-photoreceptor-specific-nuclear-receptor-pnr-nr2e3-and-peroxisome-proliferator-activated-receptor-%C3%AE-ppar%C3%AE-are-disrupted-by-retinal-disease-associated-mutations
#18
Joel Fulton, Bismoy Mazumder, Jonathan B Whitchurch, Cintia J Monteiro, Hilary M Collins, Chun M Chan, Maria P Clemente, Miguel Hernandez-Quiles, Elizabeth A Stewart, Winfried M Amoaku, Paula M Moran, Nigel P Mongan, Jenny L Persson, Simak Ali, David M Heery
Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1) are human orthologs of the NR2E group, a subgroup of phylogenetically related members of the nuclear receptor (NR) superfamily of transcription factors. We assessed the ability of these NRs to form heterodimers with other members of the human NRs representing all major subgroups. The TLX ligand-binding domain (LBD) did not appear to form homodimers or interact directly with any other NR tested. The PNR LBD was able to form homodimers, but also exhibited robust interactions with the LBDs of peroxisome proliferator-activated receptor-γ (PPARγ)/NR1C3 and thyroid hormone receptor b (TRb) TRβ/NR1A2...
March 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#19
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28278503/doubly-labeled-water-method-and-accelerometer-for-the-measurement-of-energy-expenditure-in-human-immunodeficiency-virus-infected-patients
#20
Mariana P Guimarães, Eduardo Ferriolli, Karina Pfrimer, Anderson M Navarro
BACKGROUND: Several studies have reported increased resting energy expenditure (REE) in human immunodeficiency virus (HIV)-infected patients with HIV-associated lipodystrophy syndrome (HALS). However, limited data exist on the total energy expenditure (TEE). This study was aimed at evaluating the REE and TEE of HIV-infected patients with and without HALS by using the doubly labeled water (DLW) technique and the activity monitor based on accelerometry system (AM), and comparing the results obtained using both methods...
2017: Annals of Nutrition & Metabolism
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