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Lipodystrophy

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https://www.readbyqxmd.com/read/28716262/new-genetic-causes-for-complex-hereditary-spastic-paraplegia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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/28634970/severe-injection-site-reactions-after-subcutaneous-administration-of-sayana%C3%A2
#11
Annika M Jödicke, Hendrike Dahmke, Beat Damke, Martina Schäublin, Gerd A Kullak-Ublick, Stefan Weiler
PURPOSE: Sayana® was introduced as the first depot medroxyprogesterone acetate-containing contraceptive that is administered via subcutaneous injection. Within 10 months, the Regional Pharmacovigilance Centre (RPVC) Zurich received several anonymous reports of serious local reactions after Sayana® administration. In this retrospective study, individual case safety reports (ICSRs) on local adverse drug reactions (ADRs) related to Sayana® were analysed from the WHO pharmacovigilance database...
June 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#12
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
#13
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
#14
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
#15
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...
July 14, 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
#16
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
#17
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
#18
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
#19
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
#20
Julia Cunningham, Rosa Nadal, Catherine Broome
No abstract text is available yet for this article.
May 23, 2017: American Journal of Medicine
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