keyword
MENU ▼
Read by QxMD icon Read
search

Lipodystrophy

keyword
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#1
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#2
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28913408/hepatocyte-specific-deletion-of-mouse-lamin-a-c-leads-to-male-selective-steatohepatitis
#3
Raymond Kwan, Graham F Brady, Maria Brzozowski, Sujith V Weerasinghe, Hope Martin, Min-Jung Park, Makayla J Brunt, Ram K Menon, Xin Tong, Lei Yin, Colin L Stewart, M Bishr Omary
BACKGROUND & AIMS: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging syndromes. However, the role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is caused by primary hepatocyte defects or systemic alterations. METHODS: To address these questions, we generated mice carrying a hepatocyte-specific deletion of Lmna (knockout [KO] mice) and characterized the KO liver and primary hepatocyte phenotypes by immunoblotting, immunohistochemistry, microarray analysis, quantitative real-time polymerase chain reaction, and Oil Red O and Picrosirius red staining...
November 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28911766/juvenile-dermatomyositis-key-roles-of-muscle-magnetic-resonance-imaging-and-early-aggressive-treatment
#4
O Corral-Magaña, A F Bauzá-Alonso, M M Escudero-Góngora, L Lacruz, A Martín-Santiago
Juvenile dermatomyositis is a rare systemic connective tissue disease with onset during childhood. It presents clinically with proximal muscle weakness and characteristic skin involvement. Diagnosis is based on the Bohan and Peter criteria, though many authors are now substituting biopsy with muscle magnetic resonance imaging (MRI) for both diagnosis and follow-up. Without intensive early treatment, complications such as calcinosis cutis and lipodystrophy can develop in the chronic phases of the disease. Early recognition is therefore key to management...
September 11, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28902428/nuclear-lamina-genetic-variants-including-a-truncated-lap2-in-twins-and-siblings-with-nonalcoholic-fatty-liver-disease
#5
Graham F Brady, Raymond Kwan, Peter J Ulintz, Phirum Nguyen, Shirin Bassirian, Venkatesha Basrur, Alexey I Nesvizhskii, Rohit Loomba, M Bishr Omary
Nonalcoholic fatty liver disease (NAFLD) is becoming the major chronic liver disease in many countries. Its pathogenesis is multifactorial but twin and familial studies indicate significant heritability, which is not fully explained by currently-known genetic susceptibility loci. Notably, mutations in genes encoding nuclear lamina proteins, including lamins, cause lipodystrophy syndromes that include NAFLD. We hypothesized that variants in lamina-associated proteins predispose to NAFLD and used a candidate gene-sequencing approach to test for variants in 10 nuclear lamina-related genes in a cohort of 37 twin and sibling pairs: 21 individuals with, and 53 without, NAFLD...
September 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28895299/a-case-of-lipoatrophic-diabetes-induced-by-juvenile-dermatomyositis
#6
Yusuke Baba, Hiyori Kaneko, Minoru Takemoto, Kana Ide, Yuki Haga, Tatsuo Kanda, Shinsuke Akita, Yoshitaka Kubota, Masayuki Kuroda, Yutaka Kitagawa, Koutaro Yokote
Lipodystrophy is a rare condition that is often accompanied by one or more metabolic diseases. Here we report a case of lipoatrophic diabetes induced by juvenile dermatomyositis. Although pioglitazone was not effective for lowering blood glucose levels, our observation suggested that it improved liver function slightly. The effectiveness of metreleptin for lowering blood glucose levels could not be determined, as we administered it in short period. Liver biopsy revealed burned-out nonalcoholic steatohepatitis...
September 12, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28874324/complex-phenotype-linked-to-a-mutation-in-exon-11-of-the-lamin-a-c-gene-hypertrophic-cardiomyopathy-atrioventricular-block-severe-dyslipidemia-and-diabetes
#7
Ana Rita G Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J Pinto, Dulce Brito
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes...
September 2, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28872940/itm2a-silencing-rescues-lamin-a-mediated-inhibition-of-3t3-l1-adipocyte-differentiation
#8
Stephanie J Davies, James Ryan, Patrick B F O'Connor, Elaine Kenny, Derek Morris, Pavel V Baranov, Rosemary O'Connor, Tommie V McCarthy
Dysregulation of adipose tissue metabolism is associated with multiple metabolic disorders. One such disease, known as Dunnigan-type familial partial lipodystrophy (FPLD2) is characterized by defective fat metabolism and storage. FPLD2 is caused by a specific subset of mutations in the LMNA gene. The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail. We used RNA-Seq analysis to assess the effects of wild-type (WT) and mutant (R482W) lamin A on the expression profile of differentiating 3T3-L1 mouse preadipocytes and identified Itm2a as a gene that was upregulated at 36 h post differentiation induction in these cells...
August 18, 2017: Adipocyte
https://www.readbyqxmd.com/read/28868243/highly-active-antiretroviral-therapy-dysregulates-proliferation-and-differentiation-of-human-pre-adipocytes
#9
Eyone Jones, Pavel Mazirka, Margaret A McNurlan, Frank Darras, Marie C Gelato, Giuseppe Caso
AIM: To investigate the mechanism(s) by which potential effects of multi-drug highly-active antiretroviral therapy contributes to lipodystrophy syndrome. METHODS: Preadipocytes from healthy donors were assessed for proliferation and differentiation in the presence of nucleoside reverse transcriptase inhibitors (NRTIs), nonnucleoside reverse transcriptase inhibitors (NNRTIs), and protease inhibitors (PIs) individually and in combination. Effects on proliferation were assessed with a 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyl tetrazolium bromide assay and effects on differentiation were assessed from glycerol-3-phosphate dehydrogenase (GP DH) activity and quantitation of Oil Red O staining for intracellular lipid...
August 12, 2017: World Journal of Virology
https://www.readbyqxmd.com/read/28868242/additional-attention-to-combination-antiretroviral-therapy-related-lipodystrophy
#10
REVIEW
Norihiko Kobayashi, Masako Nakahara, Masako Oka, Kumiko Saeki
The occurrence of lipodystrophy in patients taking anti-human immunodeficiency virus (HIV) medications is a serious problem as it is irreversible even after drug withdrawal. Although it was first recognized in patients taking proteinase inhibitors, other types of anti-HIV agents can also cause lipodystrophy. In a recent publication by Jones et al entitled "Highly active antiretroviral therapy dysregulates proliferation and differentiation of human pre-adipocytes" in World Journal of Virology, it was reported that simultaneous treatment of human subcutaneous adipocytes with anti-HIV drugs with different mechanisms of action synergistically exerted anti-adipogenesis effects in vitro, warning us to take utmost care in every case receiving combination antiretroviral therapy (cART)...
August 12, 2017: World Journal of Virology
https://www.readbyqxmd.com/read/28834920/case-report-of-severe-proliferative-retinopathy-in-a-patient-with-congenital-lipodystrophy
#11
Boris Rosin, Tareq Jaouni
PURPOSE: A case report of a patient with severe proliferative retinopathy due to congenital lipodystrophy. METHODS: We reviewed the medical history, imaging, and surgical procedures of a 25-year-old woman with a history of congenital lipodystrophy, presenting with bilateral combined tractional and exudative retinal detachment, poorly controlled diabetes mellitus, and extreme dislipidemia. RESULTS: The patient underwent retinal detachment repair surgery both eyes...
August 21, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28811278/lipodystrophic-laminopathy-lamin-a-mutation-relaxes-chromatin-architecture-to-impair-adipogenesis
#12
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.
September 4, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28793863/cardiovascular-risk-and-dyslipidemia-among-persons-living-with-hiv-a-review
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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"