keyword
MENU ▼
Read by QxMD icon Read
search

Lipodystrophy

keyword
https://www.readbyqxmd.com/read/28811278/lipodystrophic-laminopathy-lamin-a-mutation-relaxes-chromatin-architecture-to-impair-adipogenesis
#1
Eman Elzeneini, Sara A Wickström
The familial partial Dunnigan lipodystrophy, characterized by subcutaneous fat loss, is frequently caused by an R482W mutation in lamin A. In this issue, Oldenburg et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201701043) demonstrate that this mutation impairs the ability of lamin A to repress the anti-adipogenic miR-335, providing a potential molecular mechanism for the disease.
August 15, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28793863/cardiovascular-risk-and-dyslipidemia-among-persons-living-with-hiv-a-review
#2
REVIEW
Paolo Maggi, Antonio Di Biagio, Stefano Rusconi, Stefania Cicalini, Maurizio D'Abbraccio, Gabriella d'Ettorre, Canio Martinelli, Giuseppe Nunnari, Laura Sighinolfi, Vincenzo Spagnuolo, Nicola Squillace
BACKGROUND: Aim of this review is to focus the attention on people living with HIV infection at risk of developing a cardiovascular event. What is or what would be the most suitable antiretroviral therapy? Which statin or fibrate to reduce the risk? How to influence behavior and lifestyles? DISCUSSION: Prevention of cardiovascular disease (CVD) risk remains the first and essential step in a medical intervention on these patients. The lifestyle modification, including smoking cessation, increased physical activity, weight reduction, and the education on healthy dietary practices are the main instruments...
August 9, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28792168/indian-adolescent-living-with-hiv-aids-current-clinical-scenario
#3
Kavita S Joshi, Bhushan D Bhaware, Amar R Pazare
INTRODUCTION: Statistics suggest that, HIV has now largely become the disease of young patients. Hence, the adolescent HIV/AIDS needs to be handled and managed separately from adult HIV. Relatively fewer Indian data exist to characterize the associations in adolescents and young adults infected with HIV disease. The present study explores the current challenges in the management of HIV infected adolescents. OBJECTIVE: The study was aimed at evaluating, relationship between CD4 count and duration of antiretroviral therapy (ART), effects of ART on body mass index and the adverse effects of antiretroviral drugs in adolescent HIV positive patients...
July 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28791128/the-first-japanese-patient-with-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-diagnosed-via-pold1-mutation-detection
#4
Asami Okada, Tomohiro Kohmoto, Takuya Naruto, Ichiro Yokota, Yumiko Kotani, Aki Shimada, Yoko Miyamoto, Rizu Takahashi, Aya Goji, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28768170/causes-characteristics-and-consequences-of-metabolically-unhealthy-normal-weight-in-humans
#5
REVIEW
Norbert Stefan, Fritz Schick, Hans-Ulrich Häring
A BMI in the normal range associates with a decreased risk of cardiometabolic disease and all-cause mortality. However, not all subjects in this BMI range have this low risk. Compared to people who are of normal weight and metabolically healthy, subjects who are of normal weight but metabolically unhealthy (∼20% of the normal weight adult population) have a greater than 3-fold higher risk of all-cause mortality and/or cardiovascular events. Here we address to what extent major risk phenotypes determine metabolic health in lean compared to overweight and obese people and provide support for the existence of a lipodystrophy-like phenotype in the general population...
August 1, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28767194/echinacoside-s-nigrostriatal-dopaminergic-protection-against-6-ohda-induced-endoplasmic-reticulum-stress-through-reducing-the-accumulation-of-seipin
#6
Yajie Zhang, Hongyan Long, Fuqiong Zhou, Weina Zhu, Jie Ruan, Yang Zhao, Yan Lu
Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Recent epidemiological studies suggest that echinacoside (ECH), a phenylethanoid glycoside found in Cistanche deserticola, has a protective effect against the development of PD. However, the detailed mechanisms of how ECH suppresses neuronal death have not been fully elucidated. In this study, we confirmed that ECH protects nigrostriatal neurons against 6-hydroxydopamine (6-OHDA)-induced endoplasmic reticulum stress (ERS) in vivo and in vitro...
August 2, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28761130/lipodystrophy-and-obesity-are-associated-with-decreased-number-of-t-cells-with-regulatory-function-and-pro-inflammatory-macrophage-phenotype
#7
S Berger, G Ceccarini, G Scabia, I Barone, C Pelosini, F Ferrari, S Magno, A Dattilo, L Chiovato, P Vitti, F Santini, M Maffei
BACKGROUND/OBJECTIVES: In lipodystrophy (LD) adipose tissue function to store lipids is impaired, leading to metabolic syndrome, similar to that found in obesity. Emerging evidence links dysmetabolism with disorders of the immune system. Our aim is to investigate whether T-cell populations with regulatory function and monocyte-derived macrophages (MDMs) are affected by LD and obesity. SUBJECTS/METHODS: Blood was collected from 16 LD, 16 obese (OB, BMI>30 kg m(-2)) and 16 healthy normal-weight women (CNT)...
July 10, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28755448/short-term-in%C3%A2-vivo-precision-of-whole-body-composition-measurements-on-the-horizon-a-densitometer
#8
Michael Nowitz, Paula Monahan
INTRODUCTION: Dual-energy X-ray absorptiometry (DXA) is increasingly being used to assess abnormalities in body composition associated with a wide variety of conditions including obesity, sarcopenia, diabetes, anorexia, human immunodeficiency virus lipodystrophy, malabsorption and neuromuscular disorders. The objective of this study was to determine the short-term in vivo precision and least significant change in serial body composition measurements provided by the Hologic Horizon A densitometer as there is no published, peer reviewed body composition precision data on Horizon scanners in the medical literature...
July 29, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#9
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28751304/a-lipodystrophy-causing-lamin-a-mutant-alters-conformation-and-epigenetic-regulation-of-the-anti-adipogenic-mir335-locus
#10
Anja Oldenburg, Nolwenn Briand, Anita L Sørensen, Inswasti Cahyani, Akshay Shah, Jan Øivind Moskaug, Philippe Collas
Mutations in the Lamin A/C (LMNA) gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes. The lipodystrophy-associated LMNA p.R482W mutation is known to impair adipogenic differentiation, but the mechanisms involved are unclear. We show in this study that the lamin A p.R482W hot spot mutation prevents adipogenic gene expression by epigenetically deregulating long-range enhancers of the anti-adipogenic MIR335 microRNA gene in human adipocyte progenitor cells...
July 27, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28739173/lipid-droplet-proteins-and-metabolic-diseases
#11
REVIEW
Shimeng Xu, Xuelin Zhang, Pingsheng Liu
Lipid droplets (LDs) are ubiquitous cellular organelles for lipid storage which are composed of a neutral lipid core bounded by a protein decorated phospholipid monolayer. Although lipid storage is their most obvious function, LDs are far from inert as they participate in maintaining lipid homeostasis through lipid synthesis, metabolism, and transportation. Furthermore, they are involved in cell signaling and other molecular events closely associated with human disease such as dyslipidemia, obesity, lipodystrophy, diabetes, fatty liver, atherosclerosis, and others...
July 21, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28716262/new-genetic-causes-for-complex-hereditary-spastic-paraplegia
#12
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Renan Braido Dias, Marco Antônio Troccoli Chieia, Stênio Burlin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
INTRODUCTION: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28702711/a-simplified-method-for-management-of-platysmal-bands-platysmotomy-as-an-office-procedure
#13
Ahmed M Hegazy, Mohammed Farouk
Restoration of the esthetic neck contour is an integral component of facial rejuvenation. Characters of the aging neck include lipodystrophy, platysmal bands and jowls that extend into the neck, reducing the esthetic characters of the lower face. The authors present a new, simplified and economic method to manage platysmal bands as an office procedure under local anesthesia using a standard 18-gauge syringe needle as a cutting tool. The new technique was used on a selected group of female patients classified as non-surgical cases according to Rorich classification...
July 12, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28698261/adipocyte-specific-deficiency-of-de-novo-sphingolipid-biosynthesis-leads-to-lipodystrophy-and-insulin-resistance
#14
Su-Yeon Lee, Hui-Young Lee, Jae-Hwi Song, Goon-Tae Kim, Suwon Jeon, Yoo-Jeong Song, Jae Sung Lee, Jang-Ho Hur, Hyun Hee Oh, Shi-Young Park, Soon-Mi Shim, Hyun Joo Yoo, Byung Cheon Lee, Xian-Cheng Jiang, Cheol Soo Choi, Tae-Sik Park
Sphingolipids have been implicated in the etiology of chronic metabolic diseases. Here, we investigated whether sphingolipid biosynthesis is associated with the development of adipose tissues and metabolic diseases. SPTLC2, a subunit of serine palmitoyltransferase, was transcriptionally upregulated in the adipose tissues of obese mice and in differentiating adipocytes. Adipocyte-specific SPTLC2-deficient (aSPTLC2 KO) mice had markedly reduced adipose tissue mass. Fatty acids that were destined for the adipose tissue were instead shunted to liver and caused hepatosteatosis...
July 11, 2017: Diabetes
https://www.readbyqxmd.com/read/28686329/juvenile-onset-generalized-lipodystrophy-due-to-a-novel-heterozygous-missense-lmna-mutation-affecting-lamin-c
#15
Nivedita Patni, Chao Xing, Anil K Agarwal, Abhimanyu Garg
The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. The proband, a 23-year-old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, developed diabetes, hypertriglyceridemia, hypertension and liver problems and died with complications of cirrhosis, and kidney failure...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28663758/lmna-sequences-of-60-706-unrelated-individuals-reveal-132-novel-missense-variants-in-a-type-lamins-and-suggest-a-link-between-variant-p-g602s-and-type-2-diabetes
#16
Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L Wilson
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases ('laminopathies') including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and progeria. To assess the prevalence of LMNA missense mutations ('variants') in a broad, ethnically diverse population, we compared missense alleles found among 60,706 unrelated individuals in the ExAC cohort to those identified in 1,404 individuals in the laminopathy database (UMD-LMNA)...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28651288/development-of-a-high-performance-liquid-chromatographic-method-for-asiaticoside-quantification-in-different-skin-layers-after-topical-application-of-a-centella-asiatica-extract
#17
Priscila Bianca Rodrigues da Rocha, Bruno Dos Santos Souza, Lígia Marquez Andrade, Ricardo Neves Marreto, Eliana Martins Lima, Stephânia Fleury Taveira
The topical application of Centella asiatica extract has been commonly used for many different purposes but especially for cosmetic use in the treatment of gynoid lipodystrophy. Asiaticoside, the most active component in this extract, is responsible for its therapeutic activities. However, little is known to date about asiaticoside skin penetration. Thus, an analytical method for asiaticoside quantification in different skin layers after the topical application of C. asiatica extract was developed and skin permeation studies were performed with the plant extract to apply the analytical method developed...
June 26, 2017: Planta Medica
https://www.readbyqxmd.com/read/28646158/metabolic-recovery-of-lipodystrophy-liver-steatosis-and-pancreatic-%C3%AE-cell-proliferation-after-the-withdrawal-of-osi-906
#18
Kazuki Tajima, Jun Shirakawa, Yu Togashi, Shunsuke Yamazaki, Tomoko Okuyama, Mayu Kyohara, Hiromi Konishi, Yasuo Terauchi
Growth factor signaling via insulin receptor (IR) and IGF-1 receptor (IGF1R) plays several important roles in the pathogenesis of metabolic syndrome and diabetes. OSI-906 (linsitinib), an anti-tumor drug, is an orally bioavailable dual inhibitor of IR and IGF1R. To investigate the recovery from metabolic changes induced by the acute inhibition of IR and IGF1R in adult mice, mice were treated with OSI-906 or a vehicle for 7 days and the results were analyzed on the last day of injection (Day 7) or after 7 or 21 days of withdrawal (Day 14 or Day 28)...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641789/lipodystrophy-time-for-a-global-registry-and-randomized-clinical-trials-to-assess-efficacy-safety-and-cost-effectiveness-of-established-and-novel-medications
#19
EDITORIAL
Stergios A Polyzos, Christos S Mantzoros
No abstract text is available yet for this article.
July 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28641778/clinical-presentations-metabolic-abnormalities-and-end-organ-complications-in-patients-with-familial-partial-lipodystrophy
#20
Baris Akinci, Huseyin Onay, Tevfik Demir, Şenay Savas-Erdeve, Ramazan Gen, Ilgin Yildirim Simsir, Fatma Ela Keskin, Mehmet Sercan Erturk, Ayse Kubat Uzum, Guzin Fidan Yaylali, Nilufer Kutbay Ozdemir, Tahir Atik, Samim Ozen, Banu Sarer Yurekli, Tugce Apaydin, Canan Altay, Gulcin Akinci, Leyla Demir, Abdurrahman Comlekci, Mustafa Secil, Elif Arioglu Oral
OBJECTIVE: Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. METHODS: This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. RESULTS: Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families...
July 2017: Metabolism: Clinical and Experimental
keyword
keyword
15968
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"