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Lipodystrophy

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https://www.readbyqxmd.com/read/28339344/correlation-of-leptin-adiponectin-and-resistin-levels-in-different-types-of-lipodystrophy-in-hiv-aids-patients
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
March 10, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28272537/mutations-in-the-pcyt1a-gene-are-responsible-for-isolated-forms-of-retinal-dystrophy
#9
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28237819/the-complex-roles-of-mechanistic-target-of-rapamycin-in-adipocytes-and-beyond
#10
REVIEW
Peter L Lee, Su Myung Jung, David A Guertin
Having healthy adipose tissue is essential for metabolic fitness. This is clear from the obesity epidemic, which is unveiling a myriad of comorbidities associated with excess adipose tissue including type 2 diabetes, cardiovascular disease, and cancer. Lipodystrophy also causes insulin resistance, emphasizing the importance of having a balanced amount of fat. In cells, the mechanistic target of rapamycin (mTOR) complexes 1 and 2 (mTORC1 and mTORC2, respectively) link nutrient and hormonal signaling with metabolism, and recent studies are shedding new light on their in vivo roles in adipocytes...
February 22, 2017: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/28212318/alcohol-%C3%A2-adipose%C3%A2-tissue%C3%A2-and%C3%A2-lipid%C3%A2-dysregulation
#11
Jennifer L Steiner, Charles H Lang
Chronic alcohol consumption perturbs lipid metabolism as it increases adipose tissue lipolysis and leads to ectopic fat deposition within the liver and the development of alcoholic fatty liver disease. In addition to the recognition of the role of adipose tissue derived fatty acids in liver steatosis, alcohol also impacts other functions of adipose tissue and lipid metabolism. Lipid balance in response to long-term alcohol intake favors adipose tissue loss and fatty acid efflux as lipolysis is upregulated and lipogenesis is either slightly decreased or unchanged...
February 16, 2017: Biomolecules
https://www.readbyqxmd.com/read/28208577/single-nucleotide-polymorphism-of-ppar%C3%AE-a-protein-at-the-crossroads-of-physiological-and-pathological-processes
#12
Maria Petrosino, Laura Lori, Alessandra Pasquo, Clorinda Lori, Valerio Consalvi, Velia Minicozzi, Silvia Morante, Antonio Laghezza, Alessandra Giorgi, Davide Capelli, Roberta Chiaraluce
Genome polymorphisms are responsible for phenotypic differences between humans and for individual susceptibility to genetic diseases and therapeutic responses. Non-synonymous single-nucleotide polymorphisms (nsSNPs) lead to protein variants with a change in the amino acid sequence that may affect the structure and/or function of the protein and may be utilized as efficient structural and functional markers of association to complex diseases. This study is focused on nsSNP variants of the ligand binding domain of PPARγ a nuclear receptor in the superfamily of ligand inducible transcription factors that play an important role in regulating lipid metabolism and in several processes ranging from cellular differentiation and development to carcinogenesis...
February 10, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28199729/spectrum-of-disease-associated-with-partial-lipodystrophy-pl-lessons-from-a-trial-cohort
#13
Nevin Ajluni, Rasimcan Meral, Adam H Neidert, Graham F Brady, Eric Buras, Barbara McKenna, Frank DiPaola, Thomas L Chenevert, Jeffrey F Horowitz, Colleen Buggs-Saxton, Amit R Rupani, Peedikayil E Thomas, Marwan K Tayeh, Jeffrey W Innis, M Bishr Omary, Hari Conjeevaram, Elif A Oral
CONTEXT: Partial lipodystrophy (PL) is associated with metabolic co-morbidities but may go undiagnosed as the disease spectrum is not fully described. OBJECTIVE: Define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics. DESIGN: Cross-sectional evaluation. PARTICIPANTS: 23 patients (22 with familial, one acquired, 78.3% female, aged 12-64 years) with PL and non-alcoholic fatty liver disease (NAFLD)...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28199304/adipose-derived-circulating-mirnas-regulate-gene-expression-in-other-tissues
#14
Thomas Thomou, Marcelo A Mori, Jonathan M Dreyfuss, Masahiro Konishi, Masaji Sakaguchi, Christian Wolfrum, Tata Nageswara Rao, Jonathon N Winnay, Ruben Garcia-Martin, Steven K Grinspoon, Phillip Gorden, C Ronald Kahn
Adipose tissue is a major site of energy storage and has a role in the regulation of metabolism through the release of adipokines. Here we show that mice with an adipose-tissue-specific knockout of the microRNA (miRNA)-processing enzyme Dicer (ADicerKO), as well as humans with lipodystrophy, exhibit a substantial decrease in levels of circulating exosomal miRNAs. Transplantation of both white and brown adipose tissue-brown especially-into ADicerKO mice restores the level of numerous circulating miRNAs that are associated with an improvement in glucose tolerance and a reduction in hepatic Fgf21 mRNA and circulating FGF21...
February 23, 2017: Nature
https://www.readbyqxmd.com/read/28197781/sclerosing-mesenteritis-a-systematic-review-of-192-cases
#15
REVIEW
Prabin Sharma, Siddhartha Yadav, Christine Marie Needham, Paul Feuerstadt
INTRODUCTION: Sclerosing mesenteritis includes a spectrum of inflammatory disorders involving the adipose tissue of the bowel mesentery. AIM: To perform a systematic review of previously reported cases of sclerosing mesenteritis (SM) to determine the epidemiology, risk factors, methods of diagnosis, treatment patterns and outcomes for this disease. METHODS: Medline, PubMed, Google Scholar and Cochrane database were searched using keywords mesenteric panniculitis, retractile mesenteritis, mesenteric lipodystrophy and sclerosing mesenteritis...
April 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28196511/antiretroviral-therapy-related-adverse-effects-can-sub-saharan-africa-cope-with-the-new-test-and-treat-policy-of-the-world-health-organization
#16
Jobert Richie N Nansseu, Jean Joel R Bigna
BACKGROUND: Recent studies have shown that early antiretroviral therapy (ART) initiation results in significant HIV transmission reduction. This is the rationale behind the "test and treat" policy of the World Health Organization (WHO). Implementation of this policy will lead to an increased incidence of ART-related adverse effects, especially in sub-Saharan Africa (SSA). Is the region yet ready to cope with such a challenging issue? MAIN BODY: The introduction and widespread use of ART have drastically changed the natural history of HIV/AIDS, but exposure to ART leads to serious medication-related adverse effects mainly explained by mitochondrial toxicities, and the situation will get worse in the near future...
February 15, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28191538/lipodystrophy-hiv-related-and-fgf21-a-new-marker-to-follow-the-progression-of-lipodystrophy
#17
Stefano Benedini, Livio Luzi
Recently new evidence about fibroblast growth factor 21 (FGF21) highlights the opportunities to use this molecule in new pharmaceutical formulations to combat type 2 diabetes and metabolic syndrome. It is well known that HIV is per se a condition of insulin resistance and in particular the patient with HIV-related lipodystrophy has a condition strictly related to metabolic syndrome. Lipodystrophy is associated with severe metabolic side effects, including dyslipidemia, hepatic insulin resistance, and lipid oxidation impairment...
December 1, 2016: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/28155312/confirmation-of-factors-that-influence-antiretroviral-regimen-change-and-the-subsequent-patient-outcomes-at-a-regional-hospital-in-rural-kwazulu-natal
#18
Vereesha Soorju, Panjasaram Naidoo
BACKGROUND: Treatment failure (TF) and adverse drug reactions (ADRs) are the main indications for antiretroviral therapy (ART) regimen change. Identification of factors influencing regimen change and subsequent health outcomes of patients after regimen change is essential in providing a sustainable and effective antiretroviral roll-out campaign. AIM: To confirm the factors that influence antiretroviral regimen change and to evaluate patient outcomes post regimen change...
October 31, 2016: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/28133992/the-family-impact-of-caring-for-a-child-with-juvenile-dermatomyositis
#19
Samantha Kountz-Edwards, Christa Aoki, Caitlin Gannon, Rowena Gomez, Matthew Cordova, Wendy Packman
Background Juvenile dermatomyositis (JDM), a rare autoimmune disease, accounts for more than 80% of idiopathic inflammatory myopathy childhood cases, making it the most common idiopathic inflammatory myopathy among children. The average age of onset is approximately 7 years and commonly leads a chronic course. Symptoms of JDM include cutaneous features (Gottron's rash, heliotrope rash, or nail fold capillary changes), musculoskeletal features, calcinosis and lipodystrophy (a symmetrical deficit of subcutaneous fatty tissue), and acanthosis (thickening of the skin)...
January 1, 2017: Chronic Illness
https://www.readbyqxmd.com/read/28125586/a-novel-lamin-a-mutant-responsible-for-congenital-muscular-dystrophy-causes-distinct-abnormalities-of-the-cell-nucleus
#20
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy. In culture, the patient's skin fibroblasts entered prematurely into senescence, and some nuclei showed a lamina honeycomb pattern...
2017: PloS One
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