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Lipodystrophy

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https://www.readbyqxmd.com/read/29135895/-comparing-efficacy-and-costs-of-four-facial-fillers-in-hiv-associated-lipodystrophy-a-clinical-trial
#1
Alfonso Vallejo, Angela A Garcia-Ruano, Carmen Pinilla, Michele Castellano, Esther Deleyto, Rosa Perez-Cano
BACKGROUND: The objective was to evaluate and compare safety and effectiveness of four different dermal fillers in the treatment of facial lipoatrophy secondary to Human Immunodeficiency Virus (HIV). METHODS: We conducted a clinical trial including 147 patients suffering from HIV-induced lipoatrophy treated with Sculptra® (poly-L-lactic acid), Radiesse® (calcium hydroxylapatite), Aquamid® (polyacrylamide) or autologous fat. Objective and subjective changes were evaluated during a 24-monthfollow-up...
November 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29122848/reducing-insulin-via-conditional-partial-gene-ablation-in-adults-reverses-diet-induced-weight-gain
#2
Melissa M Page, Søs Skovsø, Haoning Cen, Amy P Chiu, Derek A Dionne, Daria F Hutchinson, Gareth E Lim, Marta Szabat, Stephane Flibotte, Sunita Sinha, Corey Nislow, Brian Rodrigues, James D Johnson
Excess circulating insulin is associated with obesity in humans and in animal models. However, the physiologic causality of hyperinsulinemia in adult obesity has rightfully been questioned because of the absence of clear evidence that weight loss can be induced by acutely reversing diet-induced hyperinsulinemia. Herein, we describe the consequences of inducible, partial insulin gene deletion in a mouse model in which animals have already been made obese by consuming a high-fat diet. A modest reduction in insulin production/secretion was sufficient to cause significant weight loss within 5 wk, with a specific effect on visceral adipose tissue...
November 9, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29115062/monogenic-interferonopathies-phenotypic-and-genotypic-findings-of-candle-syndrome-and-its-overlap-with-c1q-deficient-sle
#3
Sulaiman M Al-Mayouf, Alhanouf AlSaleem, Nora AlMutairi, Abdullah AlSonbul, Tariq Alzaid, Anas M Alazami, Hamoud Al-Mousa
OBJECTIVE: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). MATERIALS AND METHODS: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention...
November 8, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29109619/nonobese-nonketotic-childhood-onset-diabetes-look-for-lipodystrophies
#4
Partha P Chakraborty, Sayantan Ray, Subhodip Pramanik, Rana Bhattacharjee, Sujoy Ghosh, Subhankar Chowdhury
No abstract text is available yet for this article.
October 2017: Clinical Diabetes: a Publication of the American Diabetes Association
https://www.readbyqxmd.com/read/29108996/fpld2-lmna-mutation-r482w-dysregulates-ipsc-derived-adipocyte-function-and-lipid-metabolism
#5
Max Friesen, Chad A Cowan
Lipodystrophies are disorders that directly affect lipid metabolism and storage. Familial partial lipodystrophy type 2 (FPLD2) is caused by an autosomal dominant mutation in the LMNA gene. FPLD2 is characterized by abnormal adipose tissue distribution. This leads to metabolic deficiencies, such as insulin-resistant diabetes mellitus and hypertriglyceridemia. Here we have derived iPSC lines from two individuals diagnosed with FPLD2, and differentiated these cells into adipocytes. Adipogenesis and certain adipocyte functions are impaired in FPLD2-adipocytes...
November 3, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29108449/iatrogenic-cushing-syndrome-in-a-47-year-old-hiv-positive-woman-on-ritonavir-and-inhaled-budesonide
#6
Lily Colpitts, Thomas B Murray, Sami G Tahhan, Jody P Boggs
Iatrogenic Cushing syndrome (CS) is a well-known complication of treating patients with systemic steroids. More rarely, it has been described in HIV-positive patients on ritonavir (RTV) while using the inhaled corticosteroid fluticasone, which is metabolized through the cytochrome P450 3A4 (CYP3A4) enzyme system. In the presence of RTV, a known CYP3A4 enzyme inhibitor, the interaction can result in impaired metabolism and systemic accumulation of inhaled fluticasone resulting in iatrogenic CS. Iatrogenic CS has been less often described with inhaled budesonide compared to inhaled fluticasone...
January 1, 2017: Journal of the International Association of Providers of AIDS Care
https://www.readbyqxmd.com/read/29078011/bone-mineral-density-in-familial-partial-lipodystrophy
#7
Antía Fernández-Pombo, Javier A Ossandon-Otero, Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Ana I Castro, Blanca González-Méndez, Silvia Rodríguez-García, Leticia Rodriguez-Cañete, Felipe F Casanueva, David Araújo-Vilar
OBJECTIVE: Type 1 and type 2 familial partial lipodystrophies (FPLD) are characterized by the loss or increase of subcutaneous fat in certain body regions, as well as metabolic disorders. Higher muscle volume and mass have also been described. However, so far, possible bone involvement has not been studied. The aim of this study was to evaluate bone mineral density (BMD) in patients with type 1 and type 2 FPLD. METHODS: A total of 143 women were selected and distributed into three groups (17 women with FPLD2, 82 women with FPLD1 and 44 non-lipodystrophic obese female controls)...
October 27, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29066925/estimating-the-prevalence-of-generalized-and-partial-lipodystrophy-findings-and-challenges
#8
Elaine Chiquette, Elif A Oral, Abhimanyu Garg, David Araújo-Vilar, Praveen Dhankhar
BACKGROUND: Lipodystrophy (LD; non-human immunodeficiency virus [HIV]-associated) syndromes are a rare body of disorders for which true prevalence is unknown. Prevalence estimates of rare diseases are important to increase awareness and financial resources. Current qualitative and quantitative estimates of LD prevalence range from ~0.1 to 90 cases/million. We demonstrate an approach to quantitatively estimate LD prevalence (all, generalized, and partial) through a search of 5 electronic medical record (EMR) databases and 4 literature searches...
2017: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/29046728/high-prevalence-of-berardinelli-seip-congenital-lipodystrophy-in-rio-grande-do-norte-state-northeast-brazil
#9
Lázaro Batista de Azevedo Medeiros, Verônica Kristina Cândido Dantas, Aquiles Sales Craveiro Sarmento, Lucymara Fassarella Agnez-Lima, Adriana Lúcia Meireles, Thaiza Teixeira Xavier Nobre, Josivan Gomes de Lima, Julliane Tamara Araújo de Melo Campos
BACKGROUND: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN. METHODS: A descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29044799/insulin-secretory-defect-in-familial-partial-lipodystrophy-type-2-and-successful-long-term-treatment-with-a-glucagon-like-peptide-1-receptor-agonist
#10
F Banning, M Rottenkolber, I Freibothe, J Seissler, A Lechner
BACKGROUND: Familial partial lipodystrophies are rare monogenic disorders that are often associated with diabetes. In such cases, it can be difficult to achieve glycaemic control. CASE REPORT: We report a 34-year old woman with familial partial lipodystrophy type 2 (Dunnigan) and diabetes; her hyperglycaemia persisted despite metformin treatment. A combined intravenous glucose tolerance-euglycaemic clamp test showed severe insulin resistance, as expected, but also showed strongly diminished first-phase insulin secretion...
October 17, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29044029/determining-residual-adipose-tissue-characteristics-with-mri-in-patients-with-various-subtypes-of-lipodystrophy
#11
Canan Altay, Mustafa Seçil, Tevfik Demir, Tahir Atik, Gülçin Akıncı, Nilüfer Özdemir Kutbay, Ela Keskin Temeloğlu, Ilgın Yıldırım Şimşir, Seçil Özışık, Leyla Demir, Erdal Eren, Emine Burçin Tuna, Hasibe Aytaç, Hüseyin Onay, Barış Akıncı
PURPOSE: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles...
November 2017: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/29040816/lamin-a-c-mutation-associated-with-lipodystrophy-influences-adipogenic-differentiation-of-stem-cells-through-interaction-with-notch-signaling
#12
Ksenia Perepelina, Renata I Dmitrieva, Elena Ignatieva, Aleksandra Borodkina, Anna Kostareva, Anna Malashicheva
Lamin A/C is involved in many cellular functions due to its ability to bind chromatin and transcription factors and affect their properties. Mutations of LMNA gene encoding lamin A/C affect differentiation capacity of stem cells. However, signaling pathways involved in interaction with lamins in cellular differentiation remain unclear. Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue. In this study we investigated the role of LMNA mutation R482L in modulating Notch signaling activity in adipogenic differentiation of mesenchymal stem cells...
October 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28993984/facial-soft-tissue-volume-decreases-during-metreleptin-treatment-in-patients-with-partial-and-generalized-lipodystrophy
#13
Konstanze Miehle, Michael Stumvoll, Mathias Fasshauer, Thomas Hierl
PURPOSE: Lipodystrophy (LD) patients suffer from loss or maldistribution of subcutaneous adipose tissue accompanied by dysregulation of several adipocyte-secreted factors, e.g., leptin. The effect of recombinant leptin (metreleptin) therapy on facial soft tissue volume in patients with non-human immunodeficiency virus LD has not been quantified to date. METHODS: Eight LD patients (six female, two male; six familial partial LD [FPLD], two generalized LD) were treated with metreleptin over 1 year...
November 2017: Endocrine
https://www.readbyqxmd.com/read/28986436/normal-human-adipose-tissue-functions-and-differentiation-in-patients-with-biallelic-lpin1-inactivating-mutations
#14
Michele Pelosi, Eric Testet, Soazig Le Lay, Isabelle Dugail, Xiaoyun Tang, Guillaume Mabilleau, Yamina Hamel, Marine Madrange, Thomas Blanc, Thierry Odent, Todd P W McMullen, Marco Alfò, David N Brindley, Pascale de Lonlay
Lipin-1 is a Mg2+-dependent phosphatidic acid phosphatase (PAP) that in mice is necessary for normal glycerolipid biosynthesis, controlling adipocytes metabolism and adipogenic differentiation. Mice carrying inactivating mutations in the Lpin1 gene display the characteristic features of human familial lipodystrophy. Very little is known on the roles of lipin-1 in human adipocyte physiology. Apparently fat distribution and weight is normal in humans carrying LPIN1 inactivating mutations, but a detailed analysis of adipose tissue appearance and functions in these patients has not been available so far...
October 6, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28982679/evaluation-of-human-dermal-fibroblasts-directly-reprogrammed-to-adipocyte-like-cells-as-a-metabolic-disease-model
#15
Jian-Hua Chen, Kim Jee Goh, Nuno Rocha, Matthijs P Groeneveld, Marina Minic, Timothy G Barrett, David Savage, Robert K Semple
Adipose tissue is the primary tissue affected in most single gene forms of severe insulin resistance, and growing evidence has implicated it as a site where many risk alleles for insulin resistance identified in population-wide studies may exert their effect. There is thus increasing need for human adipocyte models in which to interrogate the function of known and emerging genetic risk variants, yet primary adipocyte cultures, existing immortalised cell lines, and stem-cell based models all have significant biological or practical limitations...
October 5, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28979879/localized-lipodystrophy-following-single-dose-intramuscular-gentamycin-injection
#16
Indar K Sharawat, Lesa Dawman
No abstract text is available yet for this article.
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28977588/hexarelin-a-growth-hormone-secretagogue-improves-lipid-metabolic-aberrations-in-nonobese-insulin-resistant-male-mkr-mice
#17
Rasha Mosa, Lili Huang, Yeda Wu, Chungyan Fung, Oshini Mallawakankanamalage, Derek LeRoith, Chen Chen
Despite the occurrence of dyslipidemia and its contribution to the development of insulin resistance in obese subjects, a growing number of studies have described abnormal lipid profiles among leaner persons. For example, individuals with an abnormal paucity or distribution of fat (lipodystrophy) develop severe insulin resistance, dyslipidemia, and hepatic steatosis. Deranged adipocyte metabolism and differentiation contribute to ectopic fat deposition and consequent development of insulin resistance. Growth hormone (GH) therapy has been shown to correct body composition abnormalities in some lipodystrophy patients...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28973478/roux-en-y-gastric-bypass-surgery-in-the-management-of-familial-partial-lipodystrophy-type-1
#18
Audrey Melvin, Claire Adams, Catherine Flanagan, Lisa Gaff, Barbara Gratton, Fiona Gribble, Geoffrey Roberts, Robert K Semple, Stephen O'Rahilly, Francesco Rubino, Anna Stears, David B Savage
Context: Familial partial lipodystrophy type 1 (FPLD1) is an extreme form of central adiposity, with peripheral lipodystrophy associated with severe manifestations of the metabolic syndrome, often poorly responsive to standard therapeutic approaches. Body mass index in FPLD1 varies but, in many cases, is below the level at which metabolic surgery is usually considered as a therapeutic option. Design: We detailed the metabolic response to gastric bypass surgery of three patients with FPLD1, refractory to medical therapy...
October 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28973305/metabolic-reproductive-and-neurologic-abnormalities-in-agpat1-null-mice
#19
Anil K Agarwal, Katie Tunison, Jasbir S Dalal, Sneha S Nagamma, F Kent Hamra, Shireesha Sankella, Xinli Shao, Richard J Auchus, Abhimanyu Garg
Defects in the biosynthesis of phospholipids and neutral lipids are associated with cell membrane dysfunction, disrupted energy metabolism, and diseases including lipodystrophy. In these pathways, the 1-acylglycerol-3-phosphate O-acyltransferase (AGPAT) enzymes transfer a fatty acid to the sn-2 carbon of sn-1-acylglycerol-3-phosphate (lysophosphatidic acid) to form sn-1, 2-acylglycerol-3-phosphate [phosphatidic acid (PA)]. PA is a precursor for key phospholipids and diacylglycerol. AGPAT1 and AGPAT2 are highly homologous isoenzymes that are both expressed in adipocytes...
November 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28969185/insulin-injection-site-adverse-effect-in-a-type-1-diabetes-patient-an-unusual-presentation
#20
Ranjana Ajit Sahasrabudhe, Tejas Yashwant Limaye, Vidya Sanjay Gokhale
Insulin is an integral part of Type 1 diabetes management. Patient education is of utmost importance to ensure proper injection technique for getting appropriate glycaemic control as well as to avoid injection site adverse effects. Commonest injection site adverse effect is lipodystrophy, attributable to localized manifestation of the pharmacological action of insulin. However, we present a case where incorrect injection technique led to an unusual presentation of injection site adverse effect. Apart from the abnormal skin changes, the incorrect technique also adversely affected the glycaemic control...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
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