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  1 / 141 MEDLINE  
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[PMID]:27868354
[Au] Autor:Purizaca-Rosillo N; Mori T; Benites-Cóndor Y; Hisama FM; Martin GM; Oshima J
[Ad] Endereço:Faculty of Human Medicine, National University of Piura, Piura, Peru.
[Ti] Título:High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
[So] Source:Am J Med Genet A;173(2):471-478, 2017 Feb.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.© 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Subunidades gama da Proteína de Ligação ao GTP/genética
Lipodistrofia Generalizada Congênita/diagnóstico
Lipodistrofia Generalizada Congênita/genética
Mutação
Fenótipo
Recombinação Genética
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Pré-Escolar
Consanguinidade
Éxons
Facies
Feminino
Efeito Fundador
Estudos de Associação Genética
Seres Humanos
Incidência
Lactente
Masculino
Linhagem
Peru
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BSCL2 protein, human); 0 (GTP-Binding Protein gamma Subunits)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38053


  2 / 141 MEDLINE  
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[PMID]:27612026
[Au] Autor:Su X; Lin R; Huang Y; Sheng H; Li X; Ting TH; Liu L; Li X
[Ti] Título:Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
[So] Source:J Clin Res Pediatr Endocrinol;9(1):52-57, 2017 Mar 01.
[Is] ISSN:1308-5735
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations. METHODS: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon-intron junction regions of and genes were amplified by polymerase chain reaction and sequenced. RESULTS: Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, and hepatomegaly were features in all three patients. Patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest CGL patient reported with overt diabetes. Patient 2 was found to have cardiomyopathy when she was aged 6 months. All of the patients were found to have mutations in the gene, but none of these was a novel mutation. We did not find any mutation in our patients. CONCLUSION: All of our patients exhibited characteristic features of CGL due to mutations in the gene.
[Mh] Termos MeSH primário: Subunidades gama da Proteína de Ligação ao GTP/genética
Predisposição Genética para Doença/genética
Lipodistrofia Generalizada Congênita/genética
Mutação
[Mh] Termos MeSH secundário: Aciltransferases/genética
Grupo com Ancestrais do Continente Asiático/genética
China
Análise Mutacional de DNA
Feminino
Predisposição Genética para Doença/etnologia
Genótipo
Seres Humanos
Lactente
Lipodistrofia Generalizada Congênita/etnologia
Lipodistrofia Generalizada Congênita/patologia
Masculino
Reação em Cadeia da Polimerase
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BSCL2 protein, human); 0 (GTP-Binding Protein gamma Subunits); EC 2.3.- (Acyltransferases); EC 2.3.1.52 (2-acylglycerophosphate acyltransferase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160910
[St] Status:MEDLINE
[do] DOI:10.4274/jcrpe.3556


  3 / 141 MEDLINE  
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[PMID]:27876139
[Au] Autor:Lima JG; Lima NN; Nobrega LH; Jeronimo SM
[Ad] Endereço:Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil. Electronic address: josivanlima@gmail.com.
[Ti] Título:Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy.
[So] Source:Med Hypotheses;97:94-97, 2016 Dec.
[Is] ISSN:1532-2777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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 HOMA (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. We hypothesize that low leptin and high insulin may play a role in this outcome. Understanding the potential pathophysiological mechanism of these bone abnormalities will help to clarify the effects of extreme insulin resistance in the bone.
[Mh] Termos MeSH primário: Densidade Óssea
Osso e Ossos/metabolismo
Insulina/metabolismo
Lipodistrofia Generalizada Congênita/diagnóstico
[Mh] Termos MeSH secundário: Tecido Adiposo
Índice de Massa Corporal
Homeostase
Seres Humanos
Hiperinsulinismo/metabolismo
Resistência à Insulina
Leptina/sangue
Leptina/metabolismo
Lipodistrofia Generalizada Congênita/patologia
Mutação
Vitamina D/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Insulin); 0 (Leptin); 1406-16-2 (Vitamin D)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161124
[St] Status:MEDLINE


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[PMID]:27717241
[Au] Autor:Han B; Copeland CA; Kawano Y; Rosenzweig EB; Austin ED; Shahmirzadi L; Tang S; Raghunathan K; Chung WK; Kenworthy AK
[Ad] Endereço:Department of Molecular Physiology and Biophysics, Vanderbilt School of Medicine, Nashville, Tennessee.
[Ti] Título:Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
[So] Source:Traffic;17(12):1297-1312, 2016 Dec.
[Is] ISSN:1600-0854
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Congenital generalized lipodystrophy (CGL) and pulmonary arterial hypertension (PAH) have recently been associated with mutations in the caveolin-1 ( CAV1 ) gene, which encodes the primary structural protein of caveolae. However, little is currently known about how these CAV1 mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X CAV1 mutation predicted to generate a C-terminally truncated mutant protein in a patient with both PAH and CGL using whole exome sequencing, and characterize the properties of CAV1 , caveolae-associated proteins and caveolae in skin fibroblasts isolated from the patient. We show that morphologically defined caveolae are present in patient fibroblasts and that they function in mechanoprotection. However, they exhibited several notable defects, including enhanced accessibility of the C-terminus of wild-type CAV1 in caveolae, reduced colocalization of cavin-1 with CAV1 and decreased stability of both 8S and 70S oligomeric CAV1 complexes that are necessary for caveolae formation. These results were verified independently in reconstituted CAV1 mouse embryonic fibroblasts. These findings identify defects in caveolae that may serve as contributing factors to the development of PAH and CGL and broaden our knowledge of CAV1 mutations associated with human disease.
[Mh] Termos MeSH primário: Caveolina 1/genética
Hipertensão Pulmonar/genética
Lipodistrofia Generalizada Congênita/genética
Mutação
[Mh] Termos MeSH secundário: Cavéolas/metabolismo
Pré-Escolar
Ecocardiografia
Feminino
Fibroblastos/metabolismo
Seres Humanos
Hipertensão Pulmonar/complicações
Hipertensão Pulmonar/diagnóstico
Lipodistrofia Generalizada Congênita/complicações
Lipodistrofia Generalizada Congênita/diagnóstico
Microscopia de Fluorescência
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Caveolin 1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161008
[St] Status:MEDLINE
[do] DOI:10.1111/tra.12452


  5 / 141 MEDLINE  
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[PMID]:27638887
[Au] Autor:Renvoisé B; Malone B; Falgairolle M; Munasinghe J; Stadler J; Sibilla C; Park SH; Blackstone C
[Ad] Endereço:Cell Biology Section, Neurogenetics Branch.
[Ti] Título:Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
[So] Source:Hum Mol Genet;25(23):5111-5125, 2016 Dec 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. These proteins bind one another and shape the tubular endoplasmic reticulum (ER) network throughout cells. They also are involved in lipid droplet formation, enlargement, or both in cells, though mechanisms remain unclear. Here we have identified evidence of partial lipoatrophy in Reep1 null mice in addition to prominent spastic paraparesis. Furthermore, Reep1-/- embryonic fibroblasts and neurons in the cerebral cortex both show lipid droplet abnormalities. The apparent partial lipodystrophy in Reep1 null mice, although less severe, is reminiscent of the lipoatrophy phenotype observed in the most common form of autosomal recessive lipodystrophy, Berardinelli-Seip congenital lipodystrophy. Berardinelli-Seip lipodystrophy is caused by autosomal recessive mutations in the BSCL2 gene that encodes an ER protein, seipin, that is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome). Furthermore, REEP1 co-immunoprecipitates with seipin in cells. This strengthens the link between alterations in ER morphogenesis and lipid abnormalities, with important pathogenic implications for the most common forms of HSP.
[Mh] Termos MeSH primário: Retículo Endoplasmático/genética
Lipodistrofia Generalizada Congênita/genética
Proteínas de Membrana Transportadoras/genética
Paraplegia Espástica Hereditária/genética
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Axônios/patologia
Córtex Cerebral/metabolismo
Córtex Cerebral/patologia
Proteínas Heterotriméricas de Ligação ao GTP/genética
Seres Humanos
Gotículas Lipídicas/metabolismo
Gotículas Lipídicas/patologia
Lipodistrofia Generalizada Congênita/metabolismo
Lipodistrofia Generalizada Congênita/fisiopatologia
Proteínas de Membrana Transportadoras/metabolismo
Camundongos
Camundongos Knockout
Morfogênese/genética
Mutação
Tratos Piramidais/metabolismo
Tratos Piramidais/patologia
Paraplegia Espástica Hereditária/metabolismo
Paraplegia Espástica Hereditária/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bscl2 protein, mouse); 0 (Membrane Transport Proteins); 0 (REEP1 protein, human); EC 3.6.5.1 (Heterotrimeric GTP-Binding Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw315


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[PMID]:27632409
[Au] Autor:Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F
[Ad] Endereço:University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy. Electronic address: roberta.opri@univr.it.
[Ti] Título:Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
[So] Source:Seizure;42:1-6, 2016 Nov.
[Is] ISSN:1532-2688
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. METHODS: The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. The molecular analysis of BSCL2, Laforin and Malin genes was performed to patients and/or their parents by Denaturing High Performance Liquid Chromatography and automated nucleotide sequencing. Skin specimens collected from a patient were processed for histochemical and ultrastructural analysis. RESULTS: The CGL2-PME syndrome co-segregated with two different BSCL2 genotypes: the homozygosity for c.782_783dupG involving exon 8 (two cases), or the compound heterozygosity for c.782_783dupG/c.828_829delAA (one case). Periodic-Acid Schiff positive osmiophilic material in the cytoplasm of fibrocytes and eccrine-gland cells were found in skin specimens. The lack of Lafora's bodies in skin specimens and the molecular analysis excluding mutations in Laforin and Malin genes ruled out Lafora disease. CONCLUSION: The spectrum of CGL2 associated to BSCL2 gene mutations may include PMEs. Selected mutations in BSCL2 gene seem to be related to PMEs in patients with CGL2 phenotype.
[Mh] Termos MeSH primário: Encéfalo/fisiopatologia
Subunidades gama da Proteína de Ligação ao GTP/genética
Lipodistrofia Generalizada Congênita/genética
Lipodistrofia Generalizada Congênita/fisiopatologia
Epilepsias Mioclônicas Progressivas/genética
Epilepsias Mioclônicas Progressivas/fisiopatologia
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Proteínas de Transporte/genética
Criança
Diagnóstico Diferencial
Evolução Fatal
Feminino
Seres Humanos
Lipodistrofia Generalizada Congênita/diagnóstico
Lipodistrofia Generalizada Congênita/patologia
Masculino
Epilepsias Mioclônicas Progressivas/diagnóstico
Epilepsias Mioclônicas Progressivas/patologia
Proteínas Tirosina Fosfatases não Receptoras/genética
Pele/metabolismo
Pele/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (BSCL2 protein, human); 0 (Carrier Proteins); 0 (GTP-Binding Protein gamma Subunits); 0 (NHLRC1 protein, human); EC 3.1.3.48 (Protein Tyrosine Phosphatases, Non-Receptor); EC 3.1.3.48. (EPM2A protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170227
[Lr] Data última revisão:
170227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160916
[St] Status:MEDLINE


  7 / 141 MEDLINE  
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[PMID]:27167729
[Au] Autor:Akinci G; Topaloglu H; Akinci B; Onay H; Karadeniz C; Ergul Y; Demir T; Ozcan EE; Altay C; Atik T; Garg A
[Ad] Endereço:Division of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. Electronic address: akinci.gulcin@gmail.com.
[Ti] Título:Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
[So] Source:Eur J Med Genet;59(6-7):320-4, 2016 Jun.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance.
[Mh] Termos MeSH primário: Arritmias Cardíacas/genética
Resistência à Insulina/genética
Lipodistrofia Generalizada Congênita/genética
Proteínas de Ligação a RNA/genética
[Mh] Termos MeSH secundário: Adolescente
Arritmias Cardíacas/fisiopatologia
Arritmias Cardíacas/terapia
Feminino
Homozigoto
Seres Humanos
Lipodistrofia Generalizada Congênita/fisiopatologia
Lipodistrofia Generalizada Congênita/terapia
Mutação
Linhagem
Taquicardia Ventricular/genética
Taquicardia Ventricular/fisiopatologia
Taquicardia Ventricular/terapia
Turquia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PTRF protein, human); 0 (RNA-Binding Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170210
[Lr] Data última revisão:
170210
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160512
[St] Status:MEDLINE


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[PMID]:27144934
[Au] Autor:Salle-Teyssières L; Auclair M; Terro F; Nemani M; Elsayed SM; Elsobky E; Lathrop M; Délépine M; Lascols O; Capeau J; Magré J; Vigouroux C
[Ad] Endereço:From Sorbonne Universités, UPMC Univ Paris 6, and Inserm UMR_S938, Centre de Recherche St-Antoine, F-75012, Paris, France (L.S.-T., M.A., M.N., O.L., J.C., C.V.); Institute of Cardiometabolism and Nutrition (L.S.-T., M.A., O.L., J.C., C.V.), Groupe Hospitalier La Pitié-Salpêtrière, F-75013 Paris, Fr
[Ti] Título:Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
[So] Source:J Clin Endocrinol Metab;101(7):2892-904, 2016 Jul.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 (CGL4) characterized by lipoatrophy, insulin resistance, dyslipidemia, and muscular dystrophy. Cavin-1 cooperates with caveolins to form the plasma membrane caveolae, which are involved in cellular trafficking and signalling and in lipid turnover. OBJECTIVE: We sought to identify PTRF mutations in patients with CGL and to determine their impact on insulin sensitivity, adipose differentiation, and cellular autophagy. DESIGN AND PATIENTS: We performed phenotyping studies and molecular screening of PTRF in two unrelated families with CGL. Cellular studies were conducted in cultured skin fibroblasts from the two probands and from control subjects, and in murine 3T3-F442A preadipocytes. Knockdown of cavin-1 or ATG5 was obtained by small interfering RNA-mediated silencing. RESULTS: We identified two new PTRF homozygous mutations (p.Asp59Val or p.Gln157Hisfs*52) in four patients with CGL4 presenting with generalized lipoatrophy and associated metabolic abnormalities. In probands' fibroblasts, cavin-1 expression was undetectable and caveolin-1 and -2 barely expressed. Ultrastructural analysis revealed a loss of membrane caveolae and the presence of numerous cytoplasmic autophagosomes. Patients' cells also showed increased autophagic flux and blunted insulin signaling. These results were reproduced by PTRF knockdown in control fibroblasts and in 3T3-F442A preadipocytes. Cavin-1 deficiency also impaired 3T3-F442A adipocyte differentiation. Suppression of autophagy by small interfering RNA-mediated silencing of ATG5 improved insulin sensitivity and adipocyte differentiation. CONCLUSIONS: This study showed that cavin-1 deficiency resulted in maladaptative autophagy that contributed to insulin resistance and altered adipocyte differentiation. These new pathophysiological mechanisms could open new therapeutic perspectives for adipose tissue diseases including CGL4.
[Mh] Termos MeSH primário: Tecido Adiposo/fisiologia
Autofagia/fisiologia
Caveolina 1/genética
Lipodistrofia Generalizada Congênita/genética
Lipodistrofia Generalizada Congênita/fisiopatologia
[Mh] Termos MeSH secundário: Adipogenia/genética
Adolescente
Adulto
Animais
Autofagia/genética
Caveolina 1/deficiência
Diferenciação Celular/genética
Células Cultivadas
Criança
Pré-Escolar
Consanguinidade
Feminino
Fibroblastos/fisiologia
Seres Humanos
Resistência à Insulina/genética
Masculino
Camundongos
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CAV1 protein, human); 0 (Caveolin 1)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-1086


  9 / 141 MEDLINE  
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[PMID]:27144933
[Au] Autor:Akinci B; Onay H; Demir T; Ozen S; Kayserili H; Akinci G; Nur B; Tuysuz B; Nuri Ozbek M; Gungor A; Yildirim Simsir I; Altay C; Demir L; Simsek E; Atmaca M; Topaloglu H; Bilen H; Atmaca H; Atik T; Cavdar U; Altunoglu U; Aslanger A; Mihci E; Secil M; Saygili F; Comlekci A; Garg A
[Ad] Endereço:Department of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey;
[Ti] Título:Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
[So] Source:J Clin Endocrinol Metab;101(7):2759-67, 2016 Jul.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. OBJECTIVE: We aimed to study natural history and disease burden of various subtypes of CGL. DESIGN: We attempted to ascertain nearly all patients with CGL in Turkey. SETTING: This was a nationwide study. PATIENTS OR OTHER PARTICIPANTS: Participants included 33 patients (22 families) with CGL and 30 healthy controls. MAIN OUTCOME MEASURE(S): We wanted to ascertain genotypes by sequencing of the known genes. Whole-body magnetic resonance imaging was used to investigate the extent of fat loss. Metabolic abnormalities and end-organ complications were measured on prospective follow-up. RESULTS: Analysis of the AGPAT2 gene revealed four previously reported and four novel mutations (CGL1; c.144C>A, c.667_705delinsCTGCG, c.268delC, and c.316+1G>T). Analysis of the BSCL2 gene revealed four different homozygous and one compound heterozygous possible disease-causing mutations (CGL2), including four novel mutations (c.280C>T, c.631delG, c.62A>T, and c.465-468delGACT). Two homozygous PTRF mutations (c.481-482insGTGA and c.259C>T) were identified (CGL4). Patients with CGL1 had preservation of adipose tissue in the palms, soles, scalp, and orbital region, and had relatively lower serum adiponectin levels as compared to CGL2 patients. CGL4 patients had myopathy and other distinct clinical features. All patients developed various metabolic abnormalities associated with insulin resistance. Hepatic involvement was more severe in CGL2. End-organ complications were observed at young ages. Two patients died at age 62 years from cardiovascular events. CONCLUSIONS: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.
[Mh] Termos MeSH primário: Lipodistrofia Generalizada Congênita/patologia
[Mh] Termos MeSH secundário: Aciltransferases/genética
Adolescente
Adulto
Estudos de Casos e Controles
Criança
Pré-Escolar
Análise Mutacional de DNA
Progressão da Doença
Feminino
Subunidades gama da Proteína de Ligação ao GTP/genética
Seres Humanos
Lactente
Resistência à Insulina
Lipodistrofia Generalizada Congênita/complicações
Lipodistrofia Generalizada Congênita/diagnóstico
Lipodistrofia Generalizada Congênita/genética
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Prognóstico
Turquia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BSCL2 protein, human); 0 (GTP-Binding Protein gamma Subunits); EC 2.3.- (Acyltransferases); EC 2.3.1.52 (2-acylglycerophosphate acyltransferase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-1005


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[PMID]:27068725
[Au] Autor:Chakraborty PP; Datta S; Mukhopadhyay S; Chowdhury S
[Ad] Endereço:Department of Medicine, Midnapore Medical College and Hospital, Midnapore, West Bengal, India.
[Ti] Título:Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome).
[So] Source:BMJ Case Rep;2016:10.1136/bcr-2016-214493, 2016 Apr 11.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance mimicking acromegaly in the absence of documented hypersomatotropism or past exposure to excess growth hormone. It can develop secondary to a number of congenital and acquired conditions of which severe insulin resistance is an important example. Lipodystrophy syndromes are a group of rare disorders of which autosomal recessive congenital generalised lipodystrophy is the most common type. Patients with this disorder are predisposed to insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridaemia, fatty liver, polycystic ovaries and acanthosis nigricans. Elevated circulating insulin levels in these patients rarely can give rise to soft tissue and bony overgrowth, with resultant acromegaloidism. We report an adolescent girl presenting with unusual prominence of her hands and feet; a thorough evaluation ultimately revealed a diagnosis of congenital generalised lipodystrophy.
[Mh] Termos MeSH primário: Acromegalia/congênito
Lipodistrofia Generalizada Congênita/complicações
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Resistência à Insulina
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170105
[Lr] Data última revisão:
170105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160413
[St] Status:MEDLINE



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