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Cristina Guillín-Amarelle, Antía Fernández-Pombo, Sofía Sánchez-Iglesias, David Araújo-Vilar
The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies)...
March 20, 2018: Nucleus
Luminita Labusca, Florin Zugun-Eloae
Intra-articular adipose tissue deposits known as articular fat pads (AFPs) are described to exist within synovial joints. Their assumed role in normal joint biomechanics is increasingly objectivized by means of advanced methods of functional imaging. AFPs possess structural similarity with body subcutaneous white adipose tissue (WAT), however, seems to be regulated by independent metabolic loops. AFP dimension are conserved during extreme WAT states: obesity, metabolic syndrome, lipodystrophy, and cachexia...
2018: Frontiers in Veterinary Science
Xiaobo Wu, Irina Hutson, Antonina M Akk, Smita Mascharak, Christine T N Pham, Dennis E Hourcade, Rebecca Brown, John P Atkinson, Charles A Harris
Factor D (FD) is an essential component of the complement alternative pathway (AP). It is an attractive pharmaceutical target because it is an AP-specific protease circulating in blood. Most components of the complement activation pathways are produced by the liver, but FD is highly expressed by adipose tissue. Two critical questions are: 1) to what degree does adipose tissue contribute to circulating FD levels and 2) what quantity of FD is sufficient to maintain a functional AP? To address these issues, we studied a novel mouse strain with complete lipodystrophy (LD), the fld mouse with partial LD, an FD-deficient mouse, and samples from lipodystrophic patients...
March 12, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
Helmuth Haslacher, Hannelore Fallmann, Claudia Waldhäusl, Edith Hartmann, Oswald F Wagner, Werner Waldhäusl
BACKGROUND: T1D treatment requires informed self-responsible patients, who, however, frequently miss their therapeutic goals, providing considerable potential for improvement. METHODS: This observational report evaluates T1D patients [N = 109], aged ≥18 years (range 22-82), poorly controlled at home, at and 3 weeks after their admission to our diabetes rehabilitation clinic [DRC], where they were offered standardized, but unmonitored life-style modification. RESULTS: At admission, patients displayed elevated HbA1c values (66 mmol/mol [57; 81]), a high prevalence of co-morbidities (88%), lipodystrophies due to monolocal insulin injections (42%), a low rate of influenza (16%) and pneumococcal (7%) immunization, and underuse of lipid-lowering drugs (-38%)...
2018: PloS One
Burak Özkan, Abbas Albayati, Atilla Adnan Eyüboğlu, Ahmet Çağrı Uysal, Nilgun Markal Ertaş, Mehmet Haberal
OBJECTIVES: Transplant patients, like the nontransplant population, can have surgical interventions for body shape disorders. Studies on aesthetic surgeries in transplant patients are scarce. Our aim was to share our experiences with various aesthetic procedures in solid-organ transplant recipients. MATERIALS AND METHODS: Six (5 female, 1 male) transplant patients who received surgical corrections of the aging face, ptosis and lipodystrophy of the breast, and abdomen at the Baskent University Plastic Reconstructive and Aesthetic Surgery Department between 2010 and 2017 were included...
March 2018: Experimental and Clinical Transplantation
Claire Adams, Anna Stears, David Savage, Christi Deaton
AIMS: To evaluate the impact of lipodystrophy on body image and how this affects patients' daily lives. BACKGROUND: Lipodystrophy refers to a group of rare conditions characterised by generalised or partial lack of body fat and is associated with severe metabolic problems e.g. severe insulin resistance, diabetes and pancreatitis. In addition to its metabolic effect, lack of adipose tissue may have a major impact on appearance and cause distressing physical changes...
March 8, 2018: Journal of Clinical Nursing
Dionysios V Chartoumpekis, Yoko Yagishita, Marco Fazzari, Dushani L Palliyaguru, Uma Nm Rao, Apostolos Zaravinos, Nicholas Kh Khoo, Francisco J Schopfer, Kurt R Weiss, George K Michalopoulos, Ian Sipula, Robert M O'Doherty, Thomas W Kensler, Nobunao Wakabayashi
Insulin resistance is associated with increased incidence and enhanced progression of cancers. However, little is known about strategies that can effectively ameliorate insulin resistance and consequently halt cancer progression. Herein, we propose that the transcription factor Nrf2 (also known as Nfe2l2) may be such a target, given its central role in disease prevention. To this end, we developed a mouse that overexpresses the Notch intracellular domain in adipocytes (AdNICD), leading to lipodystrophy-induced severe insulin resistance and subsequent development of sarcomas, as a model reflecting that Notch signaling is deregulated in cancers and shows positive associations with insulin resistance and fatty liver disease in humans...
March 8, 2018: JCI Insight
Heather J Tarbet, Lee Dolat, Timothy J Smith, Brett M Condon, E Timothy O'Brien, Raphael H Valdivia, Michael Boyce
Intermediate filaments (IF) are a major component of the metazoan cytoskeleton and are essential for normal cell morphology, motility, and signal transduction. Dysregulation of IFs causes a wide range of human diseases, including skin disorders, cardiomyopathies, lipodystrophy, and neuropathy. Despite this pathophysiological significance, how cells regulate IF structure, dynamics, and function remains poorly understood. Here, we show that site-specific modification of the prototypical IF protein vimentin with O-linked β- N -acetylglucosamine (O-GlcNAc) mediates its homotypic protein-protein interactions and is required in human cells for IF morphology and cell migration...
March 7, 2018: ELife
Barbara Toffoli, Cristina Zennaro, Carine Winkler, Greta Maria Paola Giordano Attianese, Stella Bernardi, Michele Carraro, Federica Gilardi, Beatrice Desvergne
Different complex mechanisms control the morphology of podocyte foot processes and their interactions with the underlying basement membrane. Injuries to this system often cause glomerular dysfunction and albuminuria. The present study aimed at identifying early markers of glomerular damage in diabetic nephropathy. For this purpose, we performed a microarray analysis on kidneys of 3-week-old PPARγ null and AZIP/F1 mice, which are two models of diabetic nephropathy due to lipodystrophy. This was followed by functional annotation of the enriched clusters of genes...
February 28, 2018: American Journal of Physiology. Renal Physiology
Rai-Hseng Hsu, Wei-De Lin, Mei-Chyn Chao, Hui-Pin Hsiao, Siew-Lee Wong, Pao-Chin Chiu, Shao-Yin Chu, Yu-Yuan Ke, Beng-Huat Lau, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Chung-Hsing Wang, Ni-Chung Lee
BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: A total of 16 patients were analyzed, and the current median age was 3...
February 22, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
A Melvin, S O'Rahilly, D B Savage
Insulin resistance underpins the link between obesity and most of its associated metabolic disorders including type 2 diabetes, fatty liver disease, dyslipidaemia and cardiovascular disease. Despite its importance and extensive scientific endeavour, its precise molecular pathogenesis remains unclear. Monogenic syndromes of extreme insulin resistance, whilst rare in themselves, can provide unique insights into the pathogenesis of human insulin resistance. Severe insulin resistance syndromes are broadly classified into three categories: lipodystrophies, primary insulin signalling defects or complex syndromes including severe insulin resistance...
February 22, 2018: Current Opinion in Genetics & Development
George D Mcilroy, Karla Suchacki, Anke J Roelofs, Wulin Yang, Yanyun Fu, Bo Bai, Robert J Wallace, Cosimo De Bari, William P Cawthorn, Weiping Han, Mirela Delibegović, Justin J Rochford
OBJECTIVE: Mutations to the BSCL2 gene disrupt the protein seipin and cause the most severe form of congenital generalised lipodystrophy (CGL). Affected individuals exhibit a near complete loss of white adipose tissue (WAT) and suffer from metabolic disease. Seipin is critical for adipocyte development in culture and mice with germline disruption to Bscl2 recapitulate the effects of BSCL2 disruption in humans. Here we examined whether loss of Bscl2 specifically in developing adipocytes in vivo is sufficient to prevent adipose tissue development and cause all features observed with congenital BSCL2 disruption...
January 31, 2018: Molecular Metabolism
Atsuko Hirano, Tomohiko Takada, Mariko Senda, Hidemasa Takahashi, Takeo Suzuki
Background: Polymeraze I and transcript release factor ( PTRF ) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. Case presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room...
2018: JA Clin Rep
Hillary Elizabeth Lockemer, Kathryn Maria Sumpter, Sandy Cope-Yokoyama, Abhimanyu Garg
BACKGROUND: Acquired lipodystrophy, craniopharyngioma and chronic inflammatory demyelinating polyneuropathy (CIDP) are individually rare disorders, and have never before been reported in a single patient. CASE PRESENTATION: A 15-year-7 month old Caucasian male presented with lower extremity weakness, frequent falls and abnormal fat distribution occurring over the previous 1 year. He was diagnosed with CIDP, craniopharyngioma and acquired lipodystrophy. The patient underwent tumor debulking and cranial irradiation for the craniopharyngioma, and received monthly intravenous immunoglobulin for the CIDP...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Mike M Sathekge, Alfred O Ankrah, Ismaheel Lawal, Mariza Vorster
Monitoring response to treatment is a key element in the management of infectious diseases, yet controversies still persist on reliable biomarkers for noninvasive response evaluation. Considering the limitations of invasiveness of most diagnostic procedures and the issue of expression heterogeneity of pathology, molecular imaging is better able to assay in vivo biologic processes noninvasively and quantitatively. The usefulness of18 F-FDG-PET/CT in assessing treatment response in infectious diseases is more promising than for conventional imaging...
March 2018: Seminars in Nuclear Medicine
Maria C Foss-Freitas, Rafael C Ferraz, Luciana Z Monteiro, Patricia M Gomes, Ricardo Iwakura, Luiz Carlos C de Freitas, Milton C Foss
Background: Familial partial lipodystrophy of the Dunnigan type is one of the most common inherited lipodystrophies variables. These individuals have important metabolic disorders that cause predisposition to various diseases. In this study we aimed to demonstrate the relation between the metabolic abnormalities, inflammatory profile and the expression of genes involved in the activation of the endoplasmic reticulum stress (ERS) in subjects with FPLD. Methods: We evaluated 14 female FPLD patients and compared with 13 female healthy individuals...
2018: Diabetology & Metabolic Syndrome
Nolwenn Briand, Anne-Claire Guénantin, Dorota Jeziorowska, Akshay Shah, Matthieu Mantecon, Emilie Capel, Marie Garcia, Anja Oldenburg, Jonas Paulsen, Jean-Sebastien Hulot, Corinne Vigouroux, Philippe Collas
The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early-onset atherosclerosis. Molecular mechanisms underlying endothelial cell dysfunction conferred by the lamin A mutation remain elusive. However, lamin A regulates epigenetic developmental pathways and mutations could perturb these functions. Here, we demonstrate that lamin A R482W elicits endothelial differentiation defects in a developmental model of FPLD2...
February 9, 2018: Human Molecular Genetics
Tomokazu Tanaka, Harumasa Nakazawa, Naohide Kuriyama, Masao Kaneki
Highly active antiretroviral therapy (HAART) has successfully reduced the mortality rate of patients with human immune deficiency virus (HIV) and HIV protease inhibitors (HIV PIs) are key components of HAART. Complications of HAART, particularly those associated with HIV PIs including lipodystrophy and metabolic disturbance, have emerged as an important public health issue. No specific treatment is available to prevent and/or treat HIV PI-associated lipodystrophy and metabolic syndrome. The present study demonstrated that a relatively low-dose of farnesyltransferase inhibitor (FTI), tipifarnib (3 mg/kg/day, subcutaneous injection) and lonafarnib (5 mg/kg/day, subcutaneous injection), prevented the onset of lipodystrophy and metabolic syndrome induced by the combination of two HIV PIs, lopinavir (50 mg/kg/day, intraperitoneal injection) and ritonavir (12...
February 2018: Experimental and Therapeutic Medicine
Jiawei Liao, Xuejing Liu, Mingming Gao, Mengyu Wang, Yuhui Wang, Feng Wang, Wei Huang, George Liu
SEIPIN is an integral membrane protein located in the endoplasmic reticulum, regulating adipocytes differentiation and lipolysis. Deficiency of Seipin in mice causes severe general lipodystrophy, accompanied by insulin resistance, postprandial hypertriglyceridemia and steatohepatitis. In atherosclerosis-prone Ldlr null (Ldlr -/- ) mice, lipodystrophy caused by Seipin deletion even led to severe hypercholesteremia and accelerated atherogenesis, when challenged with an atherogenic diet. However, whether the phenotypes observed in Seipin -/- Ldlr -/- mice were a common consequence due to lipodystrophy, rather than genetic background restricted or diet dependent, was unknown...
March 30, 2018: Gene
David V Glidden, Kathleen Mulligan, Vanessa McMahan, Peter L Anderson, Juan Guanira, Suwat Chariyalertsak, Susan P Buchbinder, Linda-Gail Bekker, Mauro Schechter, Beatriz Grinsztejn, Robert M Grant
Background: Antiretroviral drugs have been associated with changes in fat metabolism including lipids, fat mass and fat distribution. In HIV treatment, tenofovir disoproxil fumarate (TDF) has been shown to have a more favorable metabolic profile than other drugs in its class. However, the metabolic effects of TDF used as PrEP have not been reported. Methods: We evaluated the effects of TDF/FTC on lipids and body composition in participants in a blinded placebo controlled PrEP trial...
February 3, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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