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Lipodystrophy

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28034590/hiv-infected-patients-with-and-without-lipodystrophy-under-combined-antiretroviral-therapy-evaluation-of-body-composition
#10
Inês Grenha, Joana Oliveira, Eva Lau, Ana Cristina Santos, António Sarmento, Jorge Pereira, Davide Carvalho, Paula Freitas
In HIV-infected patients, combined antiretroviral therapy (cART) is associated to adipose tissue redistribution known as lipodystrophy and associated cardiometabolic risk. This study aimed to evaluate the evolution of body composition in HIV-infected patients, with and without lipodystrophy, over 2 yr. We evaluated anthropometric parameters and body composition by whole-body dual-energy X-ray absorptiometry in 144 HIV-infected patients on cART. We defined lipodystrophy by fat mass ratio. Lipodystrophy was present in 45...
December 27, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27974395/lamins-and-metabolism
#11
REVIEW
Chayki Charar, Yosef Gruenbaum
Lamins are nuclear intermediate filaments (IFs) with important roles in most nuclear activities, including nuclear organization and cell-cycle progression. Mutations in human lamins cause over 17 different diseases, termed laminopathies. Most of these diseases are autosomal dominant and can be roughly divided into four major groups: muscle diseases, peripheral neuronal diseases, accelerated aging disorders and metabolic diseases including Dunnigan type familial partial lipodystrophy (FLPD), acquired partial lipodystrophy (APL) and autosomal dominant leucodystrophy...
January 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27967300/clinical-features-and-management-of-non-hiv-related-lipodystrophy-in-children-a-systematic-review
#12
Nidhi Gupta, Noor Asi, Wigdan Farah, Jehad Almasri, Patricia Moreno Barrionuevo, Mouaz Alsawas, Zhen Wang, Morey W Haymond, Rebecca J Brown, M Hassan Murad
CONTEXT: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue, usually associated with insulin resistance-related conditions. OBJECTIVE: We conducted a systematic review to synthesize existing data on clinical and metabolic features of lipodystrophy (age at onset < 18 years). DATA SOURCE: Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27924729/conjugated-linoleic-acid-isomers-exert-differential-effects-on-an-adipocyte-model-of-hiv-associated-lipodystrophy
#13
Cathríona R Loonam, Sandra D O Dell, Anne Mullen
BACKGROUND: HIV-associated lipodystrophy is associated with decreased expression of PPAR-γ in adipose tissue. Conjugated linoleic acid (CLA) isomers (cis9, trans11 and trans10, cis12) are putative PPAR-γ agonists, but have not previously been investigated in the context of HIV-associated lipodystrophy. METHODS: 3T3-L1 pre-adipocytes were differentiated in the presence of ritonavir (20 μM as per previous experimental models) and 100 μM cis9,trans11, trans10,cis12 or vehicle control, DMSO...
December 7, 2016: Current HIV Research
https://www.readbyqxmd.com/read/27919367/familial-partial-lipodystrophy-presenting-as-metabolic-syndrome
#14
Darwin Chan, Adam D McIntyre, Robert A Hegele, Andrew C Don-Wauchope
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27916399/fat-grafting-is-a-feasible-technique-for-the-sequelae-of-head-and-neck-cancer-treatment
#15
J Gutiérrez Santamaría, J Masiá Gridilla, J Pamias Romero, J Giralt López-de-Sagredo, M S Bescós Atín
OBJECTIVE: The fatty tissue regenerative properties have already been used to correct secondary scars (mastectomy, HIV lipodystrophy), resulting in improved elasticity and tissue quality. However there has been limited experience in treating the sequela of head and neck cancer treatment using fat tissue grafting. The objective of this study was to perform a preliminary evaluation of the injection of autologous fat (IAF) technique, for the sequelae treatment in head and neck cancer patients...
January 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27906690/the-long-road-to-leptin
#16
Jeffrey Friedman
Leptin is an adipose tissue hormone that functions as an afferent signal in a negative feedback loop that maintains homeostatic control of adipose tissue mass. This endocrine system thus serves a critical evolutionary function by protecting individuals from the risks associated with being too thin (starvation) or too obese (predation and temperature dysregulation). Mutations in leptin or its receptor cause massive obesity in mice and humans, and leptin can effectively treat obesity in leptin-deficient patients...
December 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27894728/bone-density-in-patients-with-berardinelli-seip-congenital-lipodystrophy-is-higher-in-trabecular-sites-and-in-type-2-patients
#17
Josivan G Lima, Lucia Helena C Nobrega, Natalia N Lima, Marcel C F Dos Santos, Maria de Fatima P Baracho, Francisco Bandeira, Leonardo Capistrano, Francisco Paulo Freire Neto, Selma Maria B Jeronimo
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypoleptinemia, and hyperinsulinemia. We report here laboratory, bone mineral density (BMD), and bone mineral content findings of 21 patients (24.1 ± 8.4 yr old, 14 females, 18 diabetics, 5.3% total body fat) with BSCL. The mean leptin was very low (0.91 ± 0.42 ng/mL), and the mean values of the Z-scores for all studied sites were positive, except for the 33% radius (Z-score -0...
November 25, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27879284/seipin-regulates-er-lipid-droplet-contacts-and-cargo-delivery
#18
Veijo T Salo, Ilya Belevich, Shiqian Li, Leena Karhinen, Helena Vihinen, Corinne Vigouroux, Jocelyne Magré, Christoph Thiele, Maarit Hölttä-Vuori, Eija Jokitalo, Elina Ikonen
Seipin is an endoplasmic reticulum (ER) membrane protein implicated in lipid droplet (LD) biogenesis and mutated in severe congenital lipodystrophy (BSCL2). Here, we show that seipin is stably associated with nascent ER-LD contacts in human cells, typically via one mobile focal point per LD Seipin appears critical for such contacts since ER-LD contacts were completely missing or morphologically aberrant in seipin knockout and BSCL2 patient cells. In parallel, LD mobility was increased and protein delivery from the ER to LDs to promote LD growth was decreased...
December 15, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27876139/conversations-between-insulin-and-bone-potential-mechanism-of-high-bone-density-in-patients-with-berardinelli-seip-congenital-lipodystrophy
#19
Josivan Gomes Lima, Natalia Nobrega Lima, Lucia Helena C Nobrega, Selma Maria B Jeronimo
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMAIR (homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD...
December 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27868354/high-incidence-of-bscl2-intragenic-recombinational-mutation-in-peruvian-type-2-berardinelli-seip-syndrome
#20
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation...
February 2017: American Journal of Medical Genetics. Part A
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