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Lipodystrophy

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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
#1
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
#2
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
https://www.readbyqxmd.com/read/28636651/yield-of-yearly-routine-physical-examination-in-hiv-1-infected-patients-is-limited-a-retrospective-cohort-study-in-the-netherlands
#3
Marleen A van Amsterdam, Sander van Assen, Herman G Sprenger, Kasper R Wilting, Ymkje Stienstra, Wouter F W Bierman
BACKGROUND: Routine physical examinations might be of value in HIV-infected patients, but the yield is unknown. We determined the diagnoses that would have been missed without performing annual routine physical examinations in HIV-infected patients with stable disease. METHODS: Data were collected from the medical records of 299 HIV-1-infected patients with CD4 count >350 cells/mm3 if not using combination antiretroviral therapy (cART), or CD4 count >100 cells/mm3 and undetectable viral load if using cART...
2017: PloS One
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#4
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28631660/crescentic-c3-glomerulopathy-with-acquired-partial-lipodystrophy-an-unusual-cause-of-rapidly-progressive-renal-failure
#5
Smita Mary Matthai, Shibu Jacob, Raiyani Palak, K Jagdish, Santosh Varughese, V Tamilarasi
No abstract text is available yet for this article.
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28624266/-trochanteric-under-gluteus-lift-or-bodylift-technique-for-massive-trochanteric-lipodystrophy-about-11-cases
#6
L Ruffenach, C Bruant-Rodier, E Robert, F Bodin, C Dissaux
INTRODUCTION: There is a growing demand for weight loss sequelae. Some women have a particular morphology with a major trochanteric excess that warrants specific treatment. MATERIALS AND METHODS: On the basis of the technique published in 1964 by Pitanguy, the authors suggest a lift of the external face of the thigh with the scar redrawing the lower part of the buttock, from the gluteal fold to the inguinal region by crossing the trochanteric region. Eleven cases of major trochanteric excess after slimming are presented...
June 14, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/28623240/adipose-tissue-between-the-extremes
#7
REVIEW
Alexandros Vegiopoulos, Maria Rohm, Stephan Herzig
Adipose tissue represents a critical component in healthy energy homeostasis. It fulfills important roles in whole-body lipid handling, serves as the body's major energy storage compartment and insulation barrier, and secretes numerous endocrine mediators such as adipokines or lipokines. As a consequence, dysfunction of these processes in adipose tissue compartments is tightly linked to severe metabolic disorders, including obesity, metabolic syndrome, lipodystrophy, and cachexia. While numerous studies have addressed causes and consequences of obesity-related adipose tissue hypertrophy and hyperplasia for health, critical pathways and mechanisms in (involuntary) adipose tissue loss as well as its systemic metabolic consequences are far less understood...
June 16, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#8
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28614778/the-human-immunodeficiency-virus-hiv1-protease-inhibitor-sanquinavir-activates-autophagy-and-removes-lipids-deposited-in-lipid-droplets
#9
A Polus, M Bociaga-Jasik, U Czech, J Goralska, U Cialowicz, M Chojnacka, M Polus, K Jurowski, A Dembinska-Kiec
Reduction in mortality and increased average life span of the human immunodeficiency virus (HIV)-infected patients treated with antiretroviral therapy (ART) are associated with the risk of unwanted effects, such as insulin resistance and dyslipidemia with cardiovascular complications. Antiretroviral therapy may also be associated with lipodystrophy characterized as peripheral lipoatrophy with central fat accumulation. Understanding the molecular mechanisms of lipodystrophy caused by ART is important for therapeutic strategy and the prediction of side-effects...
April 2017: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28604545/gluteal-augmentation-with-intramuscular-implants-in-patients-with-human-immunodeficiency-virus-with-lipoatrophy-related-to-the-use-of-antiretroviral-therapy
#10
Guilherme Augusto Andrade, Pedro Soler Coltro, Mário Eduardo Barros, Bruno Francisco Müller Neto, Renan Victor Lima, Jayme Adriano Farina
INTRODUCTION: Lipodystrophy syndrome associated with highly active antiretroviral therapy (HAART) may lead to low self-esteem and poor compliance with the drug treatment on patients infected with human immunodeficiency virus (HIV), which is a matter of concern for the health system. The aim of this study was to evaluate patients with HIV submitted to gluteal augmentation with intramuscular silicone implants to correct gluteal lipoatrophy related to the use of HAART. METHODS: This is a retrospective evaluation of 10 patients submitted to gluteal augmentation with intramuscular silicone implant for correction of gluteal lipoatrophy related to the use of HAART, operated between 2012 and 2015...
June 9, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28592814/impairment-of-the-activin-a-autocrine-loop-by-lopinavir-reduces-self-renewal-of-distinct-human-adipose-progenitors
#11
Christophe Ravaud, Martin Paré, Stéphane Azoulay, Christian Dani, Annie Ladoux
Maintenance of the adipose tissue requires a proper balance between self-renewal and differentiation of adipose progenitors (AP). Any deregulation leads either to fat overexpansion and obesity or fat loss and consequent lipodystrophies. Depending on the fat pad location, APs and adipocytes are heterogeneous. However, information on the pharmacological sensitivity of distinct APs to drugs known to alter the function of adipose tissue, especially HIV protease inhibitors (PIs) is scant. Here we show that PIs decreased proliferation and clonal expansion of APs, modifying their self-renewal potential...
June 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28549922/acquired-generalized-lipodystrophy-following-immune-thrombocytopenia
#12
Julia Cunningham, Rosa Nadal, Catherine Broome
No abstract text is available yet for this article.
May 23, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28545855/-a-complex-case-of-diabetes-due-to-lmna-mutation
#13
C Ambonville, M-A Bouldouyre, P Laforêt, P Richard, O Benveniste, C Vigouroux
INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c...
May 22, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28540084/body-composition-and-metabolic-syndrome-components-on-lipodystrophy-different-subtypes-associated-with-hiv
#14
Livia Bertazzo Sacilotto, Paulo Câmara Marques Pereira, João Paulo Vieira Manechini, Sílvia Justina Papini
HIV-associated lipodystrophy syndrome (HALS) is characterized by body fat redistribution as a consequence of the antiretroviral therapy (ART) introduction, associated with an increased risk of cardiovascular disease development. Subjective diagnosis, classified between three subtypes according to the body region on which fat is lost and/or accumulated, named lipoatrophy, lipohypertrophy, and mixed lipodystrophy, is possibly accompanied with metabolic alterations. Forty people living with HIV/AIDS (PLHA), with clinical diagnosis of HALS and from both genders, were assessed...
2017: Journal of Nutrition and Metabolism
https://www.readbyqxmd.com/read/28528404/a-direct-comparison-of-the-effects-of-the-antiretroviral-drugs-stavudine-tenofovir-and-the-combination-lopinavir-ritonavir-on-bone-metabolism-in-a-rat-model
#15
M M Conradie, M van de Vyver, E Andrag, M Conradie, W F Ferris
Antiretroviral (ARV) treatment may induce metabolic complications in HIV patients on long-term therapy that can affect bone health. In this study, the effects of the ARVs Stavudine (d4T), Tenofovir (TDF) and Lopinavir/ritonavir (LPV/r) on bone metabolism and lipodystrophy were directly compared in rats to negate the consequences of HIV-associated confounding factors. Healthy 12-14-week-old male Wistar rats (n = 40) were divided into four treatment groups and received an oral animal equivalent dose of either Stavudine (6...
May 20, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#16
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28521869/high-fgf21-levels-are-associated-with-altered-bone-homeostasis-in-hiv-1-infected-patients
#17
José M Gallego-Escuredo, Maria Karuna Lamarca, Joan Villarroya, Joan C Domingo, Ma Gracia Mateo, Ma Del Mar Gutierrez, Francesc Vidal, Francesc Villarroya, Pere Domingo, Marta Giralt
BACKGROUND: Fibroblast growth factor-21 (FGF21) has emerged as an important regulator of glucose, lipid, and body weight homeostasis. However, recent experimental studies have reported that increased FGF21 levels may lead to bone loss. OBJECTIVE: To assess the relationship of serum FGF21 levels and altered bone homeostasis in HIV-1-infected patients. DESIGN: Cross-sectional study of 137 HIV-1-infected patients and 35 healthy controls conducted at the Hospital de la Santa Creu i Sant Pau, Barcelona...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28502512/metreleptin-therapy-lowers-plasma-angiopoietin-like-protein-3-in-patients-with-generalized-lipodystrophy
#18
Ranganath Muniyappa, Brent S Abel, Asha Asthana, Mary F Walter, Elaine K Cochran, Alan T Remaley, Monica C Skarulis, Phillip Gorden, Rebecca J Brown
BACKGROUND: Reduced triglyceride clearance due to impaired lipoprotein lipase-mediated lipolysis contributes to severe hypertriglyceridemia in lipodystrophy. Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) impair clearance of triglycerides by inhibiting lipoprotein lipase. Whether circulating ANGPTL3/4 levels are altered in lipodystrophy and the effects of leptin replacement on these ANGPTLs are unknown. OBJECTIVE: To examine if ANGPTL3/4 levels are elevated in patients with generalized lipodystrophy and assess the effects of leptin replacement on these ANGPTLs...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28476236/genetics-of-lipodystrophy
#19
REVIEW
Marissa Lightbourne, Rebecca J Brown
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28472977/short-syndrome-in-a-two-year-old-girl-case-report
#20
Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak, Witold Kołłątaj
BACKGROUND: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c...
May 4, 2017: Italian Journal of Pediatrics
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