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Lipodystrophy

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28471945/metabolic-concerns-in-aging-hiv-infected-persons-from-serum-lipid-phenotype-to-fatty-liver
#7
Giovanni Guaraldi, Amedeo Lonardo, Liliana Maia, Frank J Palella
: Among HIV-infected persons, the assessment of nonalcoholic fatty liver disease (NAFLD) provides a window through which overall metabolic health can be evaluated. In this review, we summarize clinical data that support the roles of aging and metabolic dysregulation as factors contributing to fatty liver/NAFLD among HIV-infected persons.Age-related metabolic alterations include hepatic anatomic and functional changes, altered homeostasis of gastrointestinal microbiota and anthropometric changes (such as a shift of body fat depots from the subcutaneous to the visceral compartment) that are often associated with the development of insulin resistance and increased cardiovascular risk...
June 1, 2017: AIDS
https://www.readbyqxmd.com/read/28469442/the-role-of-the-growth-hormone-insulin-like-growth-factor-system-in-visceral-adiposity
#8
REVIEW
Moira S Lewitt
There is substantial evidence that the growth hormone (GH)/insulin-like growth factor (IGF) system is involved in the pathophysiology of obesity. Both GH and IGF-I have direct effects on adipocyte proliferation and differentiation, and this system is involved in the cross-talk between adipose tissue, liver, and pituitary. Transgenic animal models have been of importance in identifying mechanisms underlying these interactions. It emerges that this system has key roles in visceral adiposity, and there is a rationale for targeting this system in the treatment of visceral obesity associated with GH deficiency, metabolic syndrome, and lipodystrophies...
2017: Biochemistry Insights
https://www.readbyqxmd.com/read/28458462/partial-lipodystrophy-in-patients-who-have-undergone-hematopoietic-stem-cell-transplantation-during-childhood-an-institutional-cross-sectional-survey
#9
Masanori Adachi, Yuji Oto, Koji Muroya, Junko Hanakawa, Yumi Asakura, Hiroaki Goto
Partial lipodystrophy (PD), a condition similar to metabolic syndrome without obesity, is one of the late complications of hematopoietic stem cell transplantation (HSCT) performed during childhood. We aimed to investigate the prevalence and risk factors of PD. A cross-sectional survey was performed in a children's hospital, targeting patients treated for a malignancy or hematological disorder, and who were disease-free for > 24 mo. PD was defined as gluteal lipoatrophy and lipohypertrophy of the cheeks or neck associated with diabetes and/or fatty liver disease...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28450900/dipeptidyl-peptidase-4-levels-are-increased-and-partially-related-to-body-fat-distribution-in-patients-with-familial-partial-lipodystrophy-type-2
#10
Cynthia Melissa Valerio, Juliana Severo de Almeida, Rodrigo Oliveira Moreira, Luiza Barreto S Aguiar, Priscila O Siciliano, Denise P Carvalho, Amelio F Godoy-Matos
BACKGROUND: Dipeptidyl peptidase-4 (DDP4) is an enzyme responsible for glucagon-like peptide-1 inactivation and plays an important role in glucose metabolism. OBJECTIVE: The aim of this study was to evaluate DPP4 levels in patients with familial partial lipodystrophy type 2 (FPLD2) and correlate it with body fat distribution. METHODS: Fourteen patients with FPLD2 were selected to participate in this study and matched to a healthy control group (n = 8)...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28448764/mechanistic-insights-into-osteoporosis-in-patients-with-lipodystrophy-and-review-of-the-literature
#11
Lanhui Huang, Hong Shi, Xinli Zhou
OBJECTIVE: To demonstrate the underlying pathogenesis of osteoporosis occurring in patients with lipodystrophy. METHODS: MEDLINE was searched using the following key terms: lipodystrophy, osteoporosis and reduced bone mineral density. Additional studies were obtained from the bibliographies of reports and reviews above by manual search. RESULTS: Lipodystrophy is a very rare disease characterized by pathologic alterations in the distribution of adipose tissues in association with a diverse range of metabolic derangements such as hypertriglyceridemia, insulin resistance, diabetes and abnormal bone formation...
April 27, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28447407/wiedemann-rautenstrauch-syndrome-a-phenotype-analysis
#12
Stefano Paolacci, Debora Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, Raoul C Hennekam
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely...
April 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28447302/comment-on-the-new-indian-injection-technique-recommendations-critical-appraisal-of-the-real-world-implementation-of-the-current-guidelines
#13
Felice Strollo, Sandro Gentile
With an eye on the sequence of two Indian papers concurrently published in Diabetes Therapy, this paper analyzes skin differences among races and points to a lack of organized structured education sessions as the main cause of the high prevalence of lipodystrophy (LD) and consequent poor metabolic control. Only half of all insulin-treated patients reach their therapeutic targets worldwide. The factors involved in this are manifold, including the choice of overlong and repeatedly reused needles, as well as a failure to systematically rotate injection sites, all of which lead to skin LD...
April 26, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#14
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#15
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
https://www.readbyqxmd.com/read/28414270/human-biallelic-mfn2-mutations-induce-mitochondrial-dysfunction-upper-body-adipose-hyperplasia-and-suppression-of-leptin-expression
#16
Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O'Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth. We describe similar massive adipose overgrowth with suppressed leptin expression in four further patients with biallelic MFN2 mutations and at least one p.Arg707Trp allele. Overgrown tissue was composed of normal-sized, UCP1-negative unilocular adipocytes, with mitochondrial network fragmentation, disorganised cristae, and increased autophagosomes...
April 19, 2017: ELife
https://www.readbyqxmd.com/read/28408391/lmna-associated-partial-lipodystrophy-anticipation-of-metabolic-complications
#17
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
BACKGROUND: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. METHODS: This retrospective study of the largest cohort of patients with FPLD2 reported to date investigates 85 patients from 24 families comprising three generations (G1: n=39; G2: n=41; G3: n=5)...
April 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28403619/insulin-like-growth-factor-is-associated-with-changes-in-body-composition-with-art-initiation
#18
Kristine M Erlandson, Suzanne P Fiorillo, Sandra Wagner Cardoso, Cynthia Rivere, Jorge Sanchez, James Hakim, Nagalingeswaran Kumarasamy, Sharlaa Badal-Fasesen, Umesh Lalloo, Johnstone J Kumwenda, Thomas B Campbell, Todd Brown
BACKGROUND: Growth hormone (GH)/insulin-like growth factor (IGF)-1 axis abnormalities have been associated with body composition changes among HIV-infected persons with wasting or lipodystrophy. Little is known of GH/IGF-1 axis alterations with ART initiation or differing ART therapies. METHODS: The AIDS Clinical Trials Group Prospective Evaluation of Antiretrovirals in Resource- Limited Settings (PEARLS) study was a prospective, randomized clinical trial of ART initiation with emtricitabine/tenofovir + efavirenz (FTC/TDF+EFV) vs lamivudine/zidovudine + efavirenz (3TC/ZDV+EFV) in HIV-1-infected individuals from resource-diverse settings...
April 12, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28398958/new-onset-diabetes-in-hiv-treated-adults-from-thailand-predictors-long-term-renal-and-cardiovascular-outcomes
#19
Opass Putcharoen, Lalita Wattanachanya, Jiratchaya Sophonphan, Sarawut Siwamogsatham, Vorapot Sapsirisavat, Sivaporn Gatechompol, Supalak Phonphithak, Stephen J Kerr, Yingyos Avihingsanon, Kiat Ruxrungtham, Anchalee Avihingsanon
OBJECTIVE: To determine the incidence and risk factors for developing diabetes mellitus (DM) in a cohort of Thai HIV-infected patients on long-term combination antiretroviral therapy (cART). DESIGN: Prospective study conducted between July 1996-April 30, 2015. METHODS: 1,748 subjects (60% males) who did not have DM prior to ART were assessed twice a year. Incident DM was defined as either having two consecutive fasting glucose levels >126 mg/dL, or reporting anti-DM medication/ DM diagnosis after starting cART...
April 10, 2017: AIDS
https://www.readbyqxmd.com/read/28390904/normal-bone-density-and-trabecular-bone-score-but-high-serum-sclerostin-in-congenital-generalized-lipodystrophy
#20
Josivan Gomes Lima, Lucia Helena C Nobrega, Natalia Nobrega Lima, Marcel Catão Ferreira Dos Santos, Maria de Fatima P Baracho, Renaud Winzenrieth, Francisco Bandeira, Carolina de O Mendes-Aguiar, Francisco Paulo Freire Neto, Leonardo Capistrano Ferreira, Clifford J Rosen, Selma Maria B Jeronimo
CONTEXT: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty in storing lipids in adipocytes, low body fat mass, hypoleptinemia, and hyperinsulinemia. Sclerostin is a product of SOST gene that blocks the Wnt/β-catenin pathway, decreasing bone formation and enhancing adipogenesis. There are no data about sclerostin in people with BSCL. OBJECTIVE: We aimed to evaluate serum sclerostin, bone mineral density (BMD), and L1-L4 Trabecular Bone Score (TBS) in BSCL patients, generating new knowledge about potential mechanisms involved in the bone alterations of these patients...
April 6, 2017: Bone
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