keyword
MENU ▼
Read by QxMD icon Read
search

Lipodystrophy

keyword
https://www.readbyqxmd.com/read/27919367/familial-partial-lipodystrophy-presenting-as-metabolic-syndrome
#1
Darwin Chan, Adam D McIntyre, Robert A Hegele, Andrew C Don-Wauchope
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27916399/fat-grafting-is-a-feasible-technique-for-the-sequelae-of-head-and-neck-cancer-treatment
#2
J Gutiérrez Santamaría, J Masiá Gridilla, J Pamias Romero, J Giralt López-de-Sagredo, M S Bescós Atín
OBJECTIVE: The fatty tissue regenerative properties have already been used to correct secondary scars (mastectomy, HIV lipodystrophy), resulting in improved elasticity and tissue quality. However there has been limited experience in treating the sequela of head and neck cancer treatment using fat tissue grafting. The objective of this study was to perform a preliminary evaluation of the injection of autologous fat (IAF) technique, for the sequelae treatment in head and neck cancer patients...
November 1, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27906690/the-long-road-to-leptin
#3
Jeffrey Friedman
Leptin is an adipose tissue hormone that functions as an afferent signal in a negative feedback loop that maintains homeostatic control of adipose tissue mass. This endocrine system thus serves a critical evolutionary function by protecting individuals from the risks associated with being too thin (starvation) or too obese (predation and temperature dysregulation). Mutations in leptin or its receptor cause massive obesity in mice and humans, and leptin can effectively treat obesity in leptin-deficient patients...
December 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27894728/bone-density-in-patients-with-berardinelli-seip-congenital-lipodystrophy-is-higher-in-trabecular-sites-and-in-type-2-patients
#4
Josivan G Lima, Lucia Helena C Nobrega, Natalia N Lima, Marcel C F Dos Santos, Maria de Fatima P Baracho, Francisco Bandeira, Leonardo Capistrano, Francisco Paulo Freire Neto, Selma Maria B Jeronimo
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypoleptinemia, and hyperinsulinemia. We report here laboratory, bone mineral density (BMD), and bone mineral content findings of 21 patients (24.1 ± 8.4 yr old, 14 females, 18 diabetics, 5.3% total body fat) with BSCL. The mean leptin was very low (0.91 ± 0.42 ng/mL), and the mean values of the Z-scores for all studied sites were positive, except for the 33% radius (Z-score -0...
November 25, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27879284/seipin-regulates-er-lipid-droplet-contacts-and-cargo-delivery
#5
Veijo T Salo, Ilya Belevich, Shiqian Li, Leena Karhinen, Helena Vihinen, Corinne Vigouroux, Jocelyne Magré, Christoph Thiele, Maarit Hölttä-Vuori, Eija Jokitalo, Elina Ikonen
Seipin is an endoplasmic reticulum (ER) membrane protein implicated in lipid droplet (LD) biogenesis and mutated in severe congenital lipodystrophy (BSCL2). Here, we show that seipin is stably associated with nascent ER-LD contacts in human cells, typically via one mobile focal point per LD Seipin appears critical for such contacts since ER-LD contacts were completely missing or morphologically aberrant in seipin knockout and BSCL2 patient cells. In parallel, LD mobility was increased and protein delivery from the ER to LDs to promote LD growth was decreased...
November 22, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27876139/conversations-between-insulin-and-bone-potential-mechanism-of-high-bone-density-in-patients-with-berardinelli-seip-congenital-lipodystrophy
#6
Josivan Gomes Lima, Natalia Nobrega Lima, Lucia Helena C Nobrega, Selma Maria B Jeronimo
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMAIR (homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD...
December 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27868354/high-incidence-of-bscl2-intragenic-recombinational-mutation-in-peruvian-type-2-berardinelli-seip-syndrome
#7
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862896/homozygous-lipe-mutation-in-siblings-with-multiple-symmetric-lipomatosis-partial-lipodystrophy-and-myopathy
#8
Sagit Zolotov, Chao Xing, Riad Mahamid, Adel Shalata, Mohammed Sheikh-Ahmad, Abhimanyu Garg
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood...
November 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27845687/extracellular-matrix-remodeling-and-transforming-growth-factor-%C3%AE-signaling-abnormalities-induced-by-lamin-a-c-variants-that-cause-lipodystrophy
#9
Caroline Le Dour, Wei Wu, Véronique Béréziat, Jacqueline Capeau, Corinne Vigouroux, Howard J Worman
Mutations in the lamin A/C gene encoding nuclear lamins A and C (lamin A/C) cause familial partial lipodystrophy type 2 (FPLD2) and related lipodystrophy syndromes. These are mainly characterized by redistribution of adipose tissue associated with insulin resistance. Several reports suggest that alterations in the extracellular matrix of adipose tissue leading to fibrosis play a role in the pathophysiology of lipodystrophy syndromes. However, the extent of extracellular matrix alterations in FPLD2 remains unknown...
November 14, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27836974/wzb117-inhibits-glut1-mediated-sugar-transport-by-binding-reversibly-at-the-exofacial-sugar-binding-site
#10
Ogooluwa A Ojelabi, Kenneth P Lloyd, Andrew H Simon, Julie K De Zutter, Anthony Carruthers
WZB117 (2-fluoro-6-(m-hydroxybenzoyloxy) phenyl m-hydroxybenzoate) inhibits passive sugar transport in human erythrocytes and cancer cell lines and, by limiting glycolysis, inhibits tumor growth in mice. This study explores how WZB117 inhibits the erythrocyte sugar transporter GLUT1 and examines the transporter isoform-specificity of inhibition. WZB117 reversibly and competitively inhibits erythrocyte 3-O-methylglucose (3MG) uptake with Ki(app) = 6 microM but is a noncompetitive inhibitor of sugar exit. Cytochalasin B (CB) is a reversible, noncompetitive inhibitor of 3MG uptake with Ki(app) = 0...
November 11, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27836000/unusual-side-effect-from-a-luteinizing-hormone-releasing-hormone-agonist-leuprorelin-in-the-treatment-of-prostate-cancer-a-case-report
#11
John I-Chiang Chang, Joseph Bucci
BACKGROUND: The treatment options for high-risk prostate cancer are either radical prostatectomy or radiotherapy/brachytherapy depending on the patients' prognosis. In older men with multiple comorbidities, radiotherapy with androgen deprivation therapy is an attractive option. Common side effects of androgen deprivation therapy include hot flushes, tiredness, increased risk of fractures, increased risk of metabolic disorders, coronary heart disease, and psychological effects. This case highlights the potential side effect of lipodystrophy secondary to leuprolide acetate injections...
November 11, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27832021/adiponectin-leptin-and-inflammatory-markers-in-hiv-associated-metabolic-syndrome-in-children-and-adolescents
#12
María Espiau, Diego Yeste, Antoni Noguera-Julian, Pere Soler-Palacín, Clàudi Fortunyc, Roser Ferrer, Immaculada Comas, Andrea Martín-Nalda, Ángela Deyà-Martínez, Concepció Figueras, Antonio Carrascosa
BACKGROUND: Metabolic syndrome (MetS) is more common in HIV-infected adults and children than in the general population. Adipocytokines and inflammatory markers may contribute to the pathophysiology of this condition and could be useful indices for monitoring MetS. The objective of this study was to provide information on the prevalence of MetS and investigate the role of adipocytokines and other biomarkers in this syndrome in HIV-infected pediatric patients. METHODS: A cross-sectional study was conducted between October 2013 and March 2014 in the outpatient clinics of two tertiary pediatric referral hospitals...
November 8, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27823605/lipodystrophy-syndromes
#13
REVIEW
Iram Hussain, Abhimanyu Garg
Lipodystrophies are heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. They are subclassified depending on degree of fat loss and whether the disorder is genetic or acquired. The two most common genetic varieties include congenital generalized lipodystrophy and familial partial lipodystrophy; the two most common acquired varieties include acquired generalized lipodystrophy and acquired partial lipodystrophy. Highly active antiretroviral therapy-induced lipodystrophy in patients infected with human immunodeficiency virus and drug-induced localized lipodystrophy are common subtypes...
December 2016: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/27809804/prevalence-of-testosterone-deficiency-in-hiv-infected-men-under-antiretroviral-therapy
#14
Ana Rita Gomes, Pedro Souteiro, Carolina Germana Silva, Bernardo Sousa-Pinto, Francisco Almeida, António Sarmento, Davide Carvalho, Paula Freitas
BACKGROUND: The prevalence of hypogonadism in HIV-infected patients is still a matter of debate as there is no standardized consensual diagnostic method. In addition, the etiology and endocrine/metabolic implications of hypogonadism in this population remain controversial. This study aims to determine the prevalence of testosterone deficiency in a single-site hospital and to evaluate its association with potential risk factors, lipodystrophy, metabolic syndrome, and cardiovascular risk...
November 3, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27806294/seipin-regulates-lipid-droplet-expansion-and-adipocyte-development-by-modulating-the-activity-of-glycerol-3-phosphate-acyltransferase
#15
Martin Pagac, Daniel E Cooper, Yanfei Qi, Ivan E Lukmantara, Hoi Yin Mak, Zengying Wu, Yuan Tian, Zhonghua Liu, Mona Lei, Ximing Du, Charles Ferguson, Damian Kotevski, Pawel Sadowski, Weiqin Chen, Salome Boroda, Thurl E Harris, George Liu, Robert G Parton, Xun Huang, Rosalind A Coleman, Hongyuan Yang
Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure. Here, we identify physical and functional interactions between SEIPIN and microsomal isoforms of glycerol-3-phosphate acyltransferase (GPAT) in multiple organisms. Compared to controls, GPAT activity was elevated in SEIPIN-deficient cells and tissues and GPAT kinetic values were altered. Increased GPAT activity appears to underpin the block in adipogenesis and abnormal lipid droplet morphology associated with SEIPIN loss...
November 1, 2016: Cell Reports
https://www.readbyqxmd.com/read/27800108/magnitude-of-adverse-drug-reaction-and-associated-factors-among-hiv-infected-adults-on-antiretroviral-therapy-in-hiwot-fana-specialized-university-hospital-eastern-ethiopia
#16
Fitsum Weldegebreal, Habtamu Mitiku, Zelalem Teklemariam
INTRODUCTION: Human immunodefiecency virus infected patients did not adhere correctly to their Antiretroviral Therapy because of the drugs adverse effects. Thus, continuous evaluation of the adverse effect of Antiretroviral Therapy will help to make more effective treatment. The aim of this study was to assess the prevalence of Adverse Drug Reaction and associated factors on Antiretroviral Therapy among Human immunodefiecency virus infected Adults at Hiwot Fana Specialized University Hospital, Eastern Ethiopia...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27789099/1-carbon-cycle-metabolites-methylate-their-way-to-fatty-liver
#17
REVIEW
Amy Karol Walker
Fatty liver is a complex disease often accompanying metabolic syndrome and Type 2 diabetes mellitus (T2DM). Hepatosteatosis may have roots in multiple metabolic abnormalities. However, metabolic dysfunction in the 1-carbon cycle (1CC), which produces the methyl donor S-adenosylmethionine (SAM) and phosphatidylcholine (PC), induces hepatic lipogenesis in model systems. Human diseases where 1CC or PC synthesis is disrupted, such as alcoholism, congenital lipodystrophy, or cystic fibrosis, often present with fatty liver...
October 24, 2016: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/27783864/modulation-of-systemic-metabolism-by-mmp-2-from-mmp-2-deficiency-in-mice-to-mmp-2-deficiency-in-patients
#18
Carlos Fernandez-Patron, Zamaneh Kassiri, Dickson Leung
Matrix metalloproteinase-2 (MMP-2) is a 72-kDa zinc- and calcium-dependent endopeptidase with intracellular and extracellular functions ranging from the modulation of extracellular matrix remodeling to cell growth and migration, angiogenesis, inflammation, and metabolism. An upregulation of MMP-2 activity has the potential to deregulate lipid metabolism through the cleavage of numerous metabolic mediators including plasma lipoproteins and cell surface receptors of lipoproteins. Paradoxically, MMP-2 deficiency induces inflammation and deregulates metabolism...
September 15, 2016: Comprehensive Physiology
https://www.readbyqxmd.com/read/27778252/successful-treatment-of-an-unusual-case-of-fpld2-the-role-of-roux-en-y-gastric-bypass-case-report-and-literature-review
#19
Sharon Grundfest-Broniatowski, JingLiang Yan, Matthew Kroh, Holly Kilim, Andrew Stephenson
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years...
October 24, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/27771494/drug-induced-mitochondrial-dysfunction-mechanisms-and-adverse-clinical-consequences
#20
REVIEW
Madhusudanarao Vuda, Ashwin Kamath
Several commonly used medications impair mitochondrial function resulting in adverse effects or toxicities. Drug induced mitochondrial dysfunction may be a consequence of increased production of reactive oxygen species, altered mitochondrial permeability transition, impaired mitochondrial respiration, mitochondrial DNA damage or inhibition of beta-oxidation of fatty acids. The clinical manifestation depends on the specific drug and its effect on mitochondria. Given the ubiquitous presence of mitochondria and its central role in cellular metabolism, drug-mitochondrial interactions may manifest clinically as hepatotoxicity, enteropathy, myelosuppression, lipodystrophy syndrome or neuropsychiatric adverse effects, to name a few...
November 2016: Mitochondrion
keyword
keyword
15968
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"