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Lipodystrophy

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https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#1
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29788076/histological-and-molecular-adipose-tissue-changes-are-related-to-metabolic-syndrome-rather-than-lipodystrophy-in-hiv-infected-patients-a-cross-sectional-study
#2
Anne Langkilde, Juliette Tavenier, Allan Vestergaard Danielsen, Jesper Eugen-Olsen, Christina Therkildsen, Frank Krieger Jensen, Jens Henrik Henriksen, Henning Langberg, Torben Steiniche, Janne Petersen, Susanne Holck, Ove Andersen
Background: In HIV-infected patients on combination antiretroviral therapy (cART), lipodystrophy shares many similarities with metabolic syndrome, but only metabolic syndrome has objective classification criteria. We examined adipose tissue changes related to lipodystrophy and metabolic syndrome to clarify whether it may be acceptable to focus diagnosis on metabolic syndrome rather than lipodystrophy. Methods: A cross-sectional study of 60 HIV-infected men on cART and 15 healthy men...
May 17, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29778137/deciphering-natural-control-of-hiv-1-a-valuable-strategy-to-achieve-antiretroviral-therapy-termination
#3
REVIEW
Hamza Loucif, Steven Gouard, Xavier Dagenais-Lussier, Armstrong Murira, Simona Stäger, Cécile Tremblay, Julien Van Grevenynghe
Antiretroviral therapy (ART) has dramatically reduced HIV-1-associated morbidity and mortality, and has transformed HIV-1 infection into a manageable chronic condition by suppressing viral replication. However, despite recent patient care improvements, ART still fails to cure HIV-1 infection due to the inability to counteract immune defects and metabolic disturbances that are associated with residual inflammation alongside viral persistence. Life-long drug administration also results in multiple side-effects in patients including lipodystrophy and insulin resistance...
April 2018: Cytokine & Growth Factor Reviews
https://www.readbyqxmd.com/read/29764566/laminopathies-mutations-on-single-gene-and-various-human-genetic-diseases
#4
So-Mi Kang, Min-Ho Yoon, Bum-Joon Park
Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy...
May 16, 2018: BMB Reports
https://www.readbyqxmd.com/read/29750601/allelic-heterogeneity-of-lamin-a-c-phenotypes-and-molecular-mechanism-behind-it
#5
Jelena Perovanovic, Eric P Hoffman
Mutations in the LMNA gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope proteins cause clinically overlapping disorders. The majority of mutations are dominant single amino acid changes (toxic protein produced by the single mutant gene), and patients are heterozygous with both normal and abnormal proteins. Experimental support has been provided for different models of cellular pathogenesis in nuclear envelope diseases, including changes in heterochromatin formation at the nuclear membrane (epigenomics), changes in the timing of steps during terminal differentiation of cells, and structural abnormalities of the nuclear membrane...
May 11, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29747582/the-renal-manifestations-of-type-4-familial-partial-lipodystrophy-a-case-report-and-review-of-literature
#6
Ru-Xuan Chen, Lei Zhang, Wei Ye, Yu-Bing Wen, Nuo Si, Hang Li, Ming-Xi Li, Xue-Mei Li, Ke Zheng
BACKGROUND: Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of cases of FPLD. Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now...
May 10, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29745909/a-young-adult-with-generalized-lipodystrophy-and-diabetes-mellitus-case-report
#7
E Çelo, B Kalari, F Toti
Lipodystrophies are a group of heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. Lipodystrophy associated metabolic abnormalities include insulin resistance, that often lead to diabetes mellitus and its complications, hypertriglyceridemia that may be severe enough to cause acute pancreatitis, and hepatic steatosis that may lead to cirrhosis. We present the case of an 18-year-old female who was hospitalized as an inaugural Diabetes Mellitus...
April 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29738274/renal-injury-in-seipin-deficient-lipodystrophic-mice-and-its-reversal-by-adipose-tissue-transplantation-or-leptin-administration-alone-adipose-tissue-kidney-crosstalk
#8
Xue-Jing Liu, Xiao-Yue Wu, Huan Wang, Su-Xia Wang, Wei Kong, Ling Zhang, George Liu, Wei Huang
Seipin deficiency is responsible for type 2 congenital generalized lipodystrophy with severe loss of adipose tissue (AT) and could lead to renal failure in humans. However, the effect of Seipin on renal function is poorly understood. Here we report that Seipin knockout (SKO) mice exhibited impaired renal function, enlarged glomerular and mesangial surface areas, renal depositions of lipid, and advanced glycation end products. Elevated glycosuria and increased electrolyte excretion were also detected. Relative renal gene expression in fatty acid oxidation and reabsorption pathways were impaired in SKO mice...
May 8, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29733702/a-new-type-of-familial-partial-lipodystrophy-distinctive-fat-distribution-and-proteinuria
#9
Banu Yurekli, Nilufer Ozdemir Kutbay, Canan Altay, Sadiye Mehtat Unlu, Sait Sen, Huseyin Onay, Tahir Atik, Baris Akinci
PURPOSE: To describe an interesting subtype of familial partial lipodystrophy (FPLD). METHODS: The phenotype of this distinctive FPLD subtype was studied in three Turkish female siblings. RESULTS: Mutation testing was negative for the genes associated with lipodystrophy syndromes. In MRI studies, fat loss was prominent in the posterior aspects of the proximal lower limbs, whilst some fat was preserved in the anterior, medial and lateral aspects...
May 7, 2018: Endocrine Research
https://www.readbyqxmd.com/read/29728617/depletion-of-nsd2-mediated-histone-h3k36-methylation-impairs-adipose-tissue-development-and-function
#10
Lenan Zhuang, Younghoon Jang, Young-Kwon Park, Ji-Eun Lee, Shalini Jain, Eugene Froimchuk, Aaron Broun, Chengyu Liu, Oksana Gavrilova, Kai Ge
The epigenetic mechanisms regulating adipose tissue development and function are poorly understood. In this study, we show that depletion of histone H3K36 methylation by H3.3K36M in preadipocytes inhibits adipogenesis by increasing H3K27me3 to prevent the induction of C/EBPα and other targets of the master adipogenic transcription factor peroxisome proliferator-activated receptor-γ (PPARγ). Depleting H3K36 methyltransferase Nsd2, but not Nsd1 or Setd2, phenocopies the effects of H3.3K36M on adipogenesis and PPARγ target expression...
May 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29724723/mice-carrying-a-dominant-negative-human-pi-3-kinase-mutation-are-protected-from-obesity-and-hepatic-steatosis-but-not-diabetes
#11
Marie H Solheim, Jonathon N Winnay, Thiago M Batista, Anders Molven, Pål R Njølstad, C Ronald Kahn
Phosphatidylinositol 3-kinase (PI3K) plays a central role in insulin signaling, glucose metabolism, cell growth, cell development, and apoptosis. A heterozygous missense mutation (R649W) in the p85α regulatory subunit gene of PI3K ( PIK3R1 ) has been identified in patients with SHORT syndrome - a disorder characterized by postnatal growth retardation, insulin resistance, and partial lipodystrophy. Knock-in mice with the same heterozygous mutation mirror the human phenotype. In this study, we show that when Pik3r1 R649W knock-in mice are fed a high-fat diet (HFD), they have reduced weight gain and adipose accumulation...
May 3, 2018: Diabetes
https://www.readbyqxmd.com/read/29723161/metreleptin-improves-insulin-sensitivity-independent-of-food-intake-in-humans-with-lipodystrophy
#12
Rebecca J Brown, Areli Valencia, Megan Startzell, Elaine Cochran, Peter J Walter, H Martin Garraffo, Hongyi Cai, Ahmed M Gharib, Ronald Ouwerkerk, Amber B Courville, Shanna Bernstein, Robert J Brychta, Kong Y Chen, Mary Walter, Sungyoung Auh, Phillip Gorden
BACKGROUND: Recombinant leptin (metreleptin) ameliorates hyperphagia and metabolic abnormalities in leptin-deficient humans with lipodystrophy. We aimed to determine whether metreleptin improves glucose and lipid metabolism in humans when food intake is held constant. METHODS: Patients with lipodystrophy were hospitalized for 19 days with food intake held constant by controlled diet in an inpatient metabolic ward. In a non-randomized cross-over design, previously metreleptin-treated patients (n= 8) were continued on-metreleptin for five days, and off-metreleptin for the next 14 days (withdrawal cohort)...
May 3, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29722904/renal-complications-of-lipodystrophy-a-closer-look-at-the-natural-history-of-kidney-disease
#13
Baris Akinci, Sadiye Mehtat Unlu, Ali Celik, Ilgin Yildirim Simsir, Sait Sen, Banu Nur, Fatma Ela Keskin, Basak Ozgen Saydam, Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Bekir Ugur Ergur, Melda Sonmez, Tahir Atik, Atakan Arslan, Tevfik Demir, Canan Altay, Ulku Aybuke Tunc, Tugba Arkan, Ramazan Gen, Erdal Eren, Gulcin Akinci, Aslihan Arasli Yilmaz, Habip Bilen, Samim Ozen, Aygul Celtik, Senay Savas Erdeve, Semra Cetinkaya, Huseyin Onay, Sulen Sarioglu, Elif Arioglu Oral
OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multi-center study, prospective follow-up data were collected from 103 subjects with non-HIV associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR)...
May 3, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29707877/evidence-based-treatment-for-gynoid-lipodystrophy-a-review-of-the-recent-literature
#14
REVIEW
Francisco M Pérez Atamoros, Daniel Alcalá Pérez, Daniel Asz Sigall, Alfonsina A Ávila Romay, José A Barba Gastelum, José A de la Peña Salcedo, Pablo E Escalante Salgado, Guillermo J Gallardo Palacios, Guillermo A Guerrero-Gonzalez, Rodrigo Morales De la Cerda, Rosa María Ponce Olivera, Fabiola Rossano Soriano, Eduardo Solís Tinoco, Esperanza C Welsh Hernández
Gynoid lipodystrophy (GLD) is a structural, inflammatory, and biochemical disorder of the subcutaneous tissue causing alterations in the topography of the skin. Commonly known as "cellulite," GLD affects up to 90% of women, practically in all stages of the life cycle, beginning in puberty. It is a clinical condition that considerably affects the patients' quality of life. It is a frequent reason for consultation, although the patients resort to empirical, improvised, nonevidence-based treatments which discourage and can be a source of frustration not only because of the lack of results but also due to the complications derived from those treatments...
April 30, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29704234/diagnosis-and-treatment-of-lipodystrophy-a-step-by-step-approach
#15
D Araújo-Vilar, F Santini
AIM: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia. PURPOSE: To describe the clinical presentation of known types of lipodystrophy, and suggest specific steps to recognize, diagnose and treat lipodystrophy in the clinical setting. METHODS: Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the different subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeutical approach...
April 27, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29690976/berardinelli-seip-congenital-generalised-lipodystrophy
#16
Huma Arshad Cheema, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, Mohammad Nadeem Anjum
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29684791/the-role-of-promyelocytic-leukemia-protein-in-steatosis-associated-hepatic-tumors-related-to-chronic-hepatitis-b-virus-infection
#17
Yih-Lin Chung, Mei-Ling Wu
The persistence of hepatitis B surface antigen (HBsAg) is a risk factor for the development of steatosis-associated tumors in chronic hepatitis B virus (HBV) infection, yet little is known about the metabolic link with this factor. We correlated HBV-related pathogenesis in genetically engineered mice and human carriers with metabolic proteomics and lipogenic gene expression profiles. The immunohistochemistry showed that the promyelocytic leukemia protein (PML, a tumor suppressor involved in genome maintenance and fatty acid oxidation), being inversely influenced by the dynamic HBsAg levels from acute phase to seroclearance, appeared as a lipo-metabolic switch linking HBsAg-induced steatosis (lipogenesis) to HBsAg-lost fat-burning hepatocarcinogenesis (lipolysis)...
April 20, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29670081/seipin-deficiency-in-mice-causes-loss-of-dopaminergic-neurons-via-aggregation-and-phosphorylation-of-%C3%AE-synuclein-and-neuroinflammation
#18
Ling Wang, Juan Hong, Yajuan Wu, George Liu, Wenfeng Yu, Ling Chen
Seipin gene is originally found in type 2 congenital generalized lipodystrophy (CGL2) to involve lipid droplet formation. Recently, decrease of seipin expression is reported in substantia nigra of Parkinson's disease patients. Dopaminergic neurons in substantia nigra pars compacta expressed the seipin protein. The objective of this study is to investigate influence of the seipin deficiency on dopaminergic neurons and motor behaviors. Neuronal seipin knockout (seipin-nKO) mice (3-12 months of age) displayed an age-related deficit in motor coordination...
April 18, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29668887/changes-in-visceral-adipose-tissue-plasma-membrane-lipid-composition-in-old-rats-are-associated-with-adipocyte-hypertrophy-with-aging
#19
Elena Bonzón-Kulichenko, Eduardo Moltó, Cristina Pintado, Alejandro Fernández, Carmen Arribas, Dominik Schwudke, Nilda Gallardo, Andrej Shevchenko, Antonio Andrés
Increased adiposity, through adipocyte hypertrophy and/or hyperplasia, characterizes aging and obesity. Both are leptin-resistant states, associated to disturbed lipid metabolism, reduced insulin sensitivity and inflammation. Nevertheless, fat tissue dysfunction appears earlier in obesity than in normal aging. In contrast, lipodystrophy is accompanied by diabetes, and improving the fat cell capacity to expand rescues the diabetic phenotype. Fat tissue dysfunction is extensively studied in the diet-induced obesity, but remains relatively neglected in the aging-associated obesity...
April 16, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29668871/transgenic-mice-overexpressing-srebp-1a-in-male-ob-ob-mice-exhibit-lipodystrophy-and-exacerbate-insulin-resistance
#20
Hiroshi Ohno, Takashi Matsuzaka, Nie Tang, Rahul Sharma, Kaori Motomura, Takuya Shimura, Aoi Satoh, Song-Iee Han, Yoshinori Takeuchi, Yuichi Aita, Hitoshi Iwasaki, Shigeru Yatoh, Hiroaki Suzuki, Motohiro Sekiya, Yoshimi Nakagawa, Hirohito Sone, Naoya Yahagi, Nobuhiro Yamada, Yoshikazu Higami, Hitoshi Shimano
Sterol regulatory element-binding protein-1a (SREBP-1a) is a key transcription factor which activates the expression of genes involved in the synthesis of fatty acids, triglycerides, and cholesterol. Transgenic mice that overexpress the nuclear form of SREBP-1a under the control of phosphoenolpyruvate carboxykinase (PEPCK) promoter (Tg-1a) were previously shown to display a lipodystrophic phenotype characterized by enlarged and fatty livers, diminished peripheral white adipose tissue (WAT), and insulin resistance...
April 12, 2018: Endocrinology
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