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Lipodystrophy

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https://www.readbyqxmd.com/read/28212318/alcohol-%C3%A2-adipose%C3%A2-tissue%C3%A2-and%C3%A2-lipid%C3%A2-dysregulation
#1
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
#2
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
#3
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
#4
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 15, 2017: Nature
https://www.readbyqxmd.com/read/28197781/sclerosing-mesenteritis-a-systematic-review-of-192-cases
#5
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...
February 14, 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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28124745/-clinical-aspects-and-genetics-of-proteasome-associated-autoinflammatory-syndromes-praas
#11
REVIEW
E Feist, A Brehm, T Kallinich, E Krüger
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the induction of type I interferon (IFN) genes seem to play a role in the pathogenesis. The typical clinical manifestations are lipodystrophy, skin, joint and muscle involvement accompanied by a remarkable variability of other associated symptoms...
January 26, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28101970/neuropeptide-y-resists-excess-loss-of-fat-by-lipolysis-in-calorie-restricted-mice-a-trait-potential-for-the-life-extending-effect-of-calorie-restriction
#12
Seongjoon Park, Toshimitsu Komatsu, Sang Eun Kim, Katsuya Tanaka, Hiroko Hayashi, Ryoichi Mori, Isao Shimokawa
Neuropeptide Y (NPY) is an orexigenic peptide that plays an essential role in caloric restriction (CR)-mediated lifespan extension. However, the mechanisms underlying the NPY-mediated effects in CR are poorly defined. Here, we report that NPY deficiency in male mice during CR increases mortality in association with lipodystrophy. NPY(-/-) mice displayed a rapid decrease in body weight and fat mass, as well as increased lipolysis during CR. These alterations in fat regulation were inhibited by the lipolysis inhibitor, acipimox, a treatment associated with reduced mortality...
January 19, 2017: Aging Cell
https://www.readbyqxmd.com/read/28100883/soy-protein-isolate-suppresses-lipodystrophy-induced-hepatic-lipid-accumulation-in-model-mice
#13
Koji Nagao, Akiko Matsumoto, Shunichi Kai, Tomoko Kayashima, Teruyoshi Yanagita
Lipodystrophies are acquired and genetic disorders characterized by the complete or partial absence of body fat with a line of metabolic disorders, including hepatic steatosis. Because soy protein isolate (SPI) has been reported to reduce cholesterol and triglyceride levels in animals and humans, we explored the effect of SPI on the pathophysiology of hepatic lipid accumutaion in a diet-induced lipodystrophy model mice. Four weeks of the lipodystrophy model diet induced hepatic lipid accumulation concomitant with marked deficiencies of adipose tissue and serum adipocytokines in mice...
January 18, 2017: Journal of Oleo Science
https://www.readbyqxmd.com/read/28097068/hepatic-fibrosis-and-factors-associated-with-liver-stiffness-in-hiv-mono-infected-individuals
#14
Mihály Sulyok, Tamás Ferenci, Mihály Makara, Gábor Horváth, János Szlávik, Zsófia Rupnik, Luca Kormos, Zsuzsanna Gerlei, Zita Sulyok, István Vályi-Nagy
BACKGROUND: Liver disease has become an important cause of morbidity and mortality even in those HIV-infected individuals who are devoid of hepatitis virus co-infection. The aim of this study was to evaluate the degree of hepatic fibrosis and the role of associated factors using liver stiffness measurement in HIV mono-infected patients without significant alcohol intake. METHODS: We performed a cross-sectional study of 101 HIV mono-infected patients recruited prospectively from March 1, 2014 to October 30, 2014 at the Center for HIV, St István and St László Hospital, Budapest, Hungary...
2017: PeerJ
https://www.readbyqxmd.com/read/28088613/adipocyte-and-epidermal-fatty-acid-binding-protein-serum-concentrations-in-patients-with-lipodystrophy
#15
Konstanze Miehle, Thomas Ebert, Susan Kralisch, Annett Hoffmann, Jürgen Kratzsch, Haiko Schlögl, Michael Stumvoll, Mathias Fasshauer
OBJECTIVE: Lipodystrophy (LD) syndromes are associated with diabetes mellitus, hypertriglyceridemia, and coronary artery disease. One pathogenetic factor of LD is dysregulation of several adipokines. However, the insulin resistance- and dyslipidemia-promoting adipokines adipocyte (AFABP) and epidermal (EFABP) fatty acid-binding protein have not been investigated in non-HIV-associated LD so far. MATERIAL AND METHODS: We performed a cross-sectional analysis of AFABP and EFABP serum concentrations in 37 LD patients and 37 age-, gender-, and body mass index-matched healthy controls...
January 12, 2017: Cytokine
https://www.readbyqxmd.com/read/28086977/people-living-with-hiv-on-art-have-accurate-perception-of-lipodystrophy-signs-a-cross-sectional-study
#16
Paulo R Alencastro, Nemora T Barcellos, Fernando H Wolff, Maria Letícia R Ikeda, Fabiana Schuelter-Trevisol, Ajácio B M Brandão, Sandra C Fuchs
BACKGROUND: The prevalence of lipodystrophy ranges from 31 to 65%, depending on the criteria adopted for diagnosis. The usual methods applied in the diagnosis vary from self-perception, medical examination, skinfolds measurements, or even imaging assessment for confirmation of fat distribution changes. Although several methods have been developed, there is no gold standard for characterization of LA and LH, or mixed forms. 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...
January 13, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28068521/hiv-and-its-relationship-to-insulin-resistance-and-lipid-abnormalities
#17
REVIEW
Lemuel R Non, Gerome V Escota, William G Powderly
Antiretroviral therapy has revolutionized the care of people with human immunodeficiency virus (HIV) by reducing morbidity and mortality from acquired immunodeficiency syndrome-related conditions. Despite longer life expectancy, however, HIV-infected individuals continue to have a higher risk of death compared with the general population. This has been attributed to the increasing incidence of noncommunicable diseases, in particular, atherosclerotic cardiovascular diseases. This is driven, in part, by the emergence of metabolic disorders, particularly dyslipidemia, insulin resistance, and lipodystrophy, in those on antiretroviral therapy...
December 23, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#18
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28055330/hepatic-lipodystrophy-in-galloway-calves
#19
M Wieland, S Mann, A Hafner-Marx, A Ignatius, M Metzner
Hepatic lipodystrophy in Galloway calves is a fatal liver disease affecting a small proportion of the Galloway breed described in different parts of Europe and North America during the past decades. The clinical findings include a diversity of neurological signs. Clinical pathology findings frequently indicate hepatobiliary disease. Postmortem examination reveals an enlarged, pale yellow, and firm liver. Histologic lesions include hepatic fibrosis, hepatic lipidosis, and bile duct hyperplasia. To date, the etiopathogenesis remains obscure...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28050599/optic-atrophy-cataracts-lipodystrophy-lipoatrophy-and-peripheral-neuropathy-caused-by-a-de-novo-opa3-mutation
#20
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear, Raj Attariwala, Anna Lehman, Wyeth W Wasserman, Clara van Karnebeek, Graham Sinclair, Hilary Vallance, William T Gibson
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
January 2017: Cold Spring Harbor Molecular Case Studies
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