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[PMID]:29036232
[Au] Autor:Lee CJ; Lee Y; Park S; Kang SM; Jang Y; Lee JH; Lee SH
[Ad] Endereço:Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
[Ti] Título:Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.
[So] Source:PLoS One;12(10):e0186446, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels. METHODS: Among 13,545 participants enrolled in a cardiovascular genome cohort, 22 subjects, whose LDL-C levels without lipid-lowering agents were ≤1 percentile (48 mg/dL) of Korean population, were analyzed. Two target genes, APOB and PCSK9, were sequenced by targeted next-generation sequencing. Prediction of functional effects was conducted using SIFT, PolyPhen-2, and Mutation Taster, and matched against a public database of variants. RESULTS: Eight rare variants of the two candidate genes (five in APOB and three in PCSK9) were found in nine subjects. Two subjects had more than two different rare variants of either gene (one subject in APOB and another subject in APOB/PCSK9). Conversely, 12 common variants (nine in APOB and three in PCSK9) were discovered in 21 subjects. Among all variants, six in APOB and three in PCSK9 were novel. Several variants previously reported functional, including c.C277T (p.R93C) and c.G2009A (p.G670E) of PCSK9, were found in our population. CONCLUSIONS: Rare variants of APOB or PCSK9 were identified in nine of the 22 study patients with extremely low LDL-C levels, whereas most of them had common variants of the two genes. The common novelty of variants suggested polymorphism of the two genes among them. Our results provide rare genetic information associated with this lipid phenotype in East Asian people.
[Mh] Termos MeSH primário: Apolipoproteína B-100/genética
LDL-Colesterol/sangue
Variação Genética
Polimorfismo de Nucleotídeo Único
Pró-Proteína Convertase 9/genética
[Mh] Termos MeSH secundário: Estudos de Coortes
Feminino
Genótipo
Seres Humanos
Hipobetalipoproteinemias/sangue
Hipobetalipoproteinemias/genética
Masculino
Meia-Idade
Fenótipo
República da Coreia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOB protein, human); 0 (Apolipoprotein B-100); 0 (Cholesterol, LDL); EC 3.4.21.- (PCSK9 protein, human); EC 3.4.21.- (Proprotein Convertase 9)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171017
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186446


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[PMID]:28633452
[Au] Autor:Fazio S; Minnier J; Shapiro MD; Tsimikas S; Tarugi P; Averna MR; Arca M; Tavori H
[Ad] Endereço:Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon 97239.
[Ti] Título:Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins.
[So] Source:J Clin Endocrinol Metab;102(9):3340-3348, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Angiopoietin-like 3 (ANGPTL3) deficiency in plasma due to loss-of-function gene mutations results in familial combined hypobetalipoproteinemia type 2 (FHBL2) in homozygotes. However, the lipid phenotype in heterozygotes is much milder and does not appear to relate directly to ANGPTL3 levels. Furthermore, the low-density lipoprotein (LDL) phenotype in carriers of ANGPTL3 mutations is unexplained. Objective: To determine whether reduction below a critical threshold in plasma ANGPTL3 levels is a determinant of lipoprotein metabolism in FHBL2, and to determine whether proprotein convertase subtilisin kexin type 9 (PCSK9) is involved in determining low LDL levels in this condition. Design: We studied subjects from 19 families with ANGPTL3 mutations and subjects with familial combined hypobetalipoproteinemia type 1 (FHBL1) due to truncated apolipoprotein B (apoB) species. Results: First, total cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, and HDL and LDL particle concentration correlated with plasma ANGPTL3 levels but only when the latter was <25% of normal (<60 ng/dL). Second, the very low-density lipoprotein particle concentration correlated strongly with plasma ANGPTL3 when the latter was <58% of normal. Third, both FHBL1 and FHBL2 subjects showed low levels of mature and LDL-bound PCSK9 and higher levels of its furin-cleaved form. Finally, LDL-bound PCSK9 is protected from cleavage by furin and binds to the LDL receptor more strongly than apoB-free PCSK9. Conclusions: Our results suggest that the hypolipidemic effects of ANGPTL3 mutations in FHBL2 are dependent on a threshold of plasma ANGPTL3 levels, with differential effects on various lipoprotein particles. The increased inactivation of PCSK9 by furin in FHBL1 and FHBL2 is likely to cause increased LDL clearance and suggests novel therapeutic avenues.
[Mh] Termos MeSH primário: Angiopoietinas/genética
Apolipoproteínas B/sangue
Predisposição Genética para Doença
Hipobetalipoproteinemias/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Proteínas Semelhantes a Angiopoietina
Western Blotting
Estudos de Coortes
Feminino
Heterozigoto
Seres Humanos
Hipobetalipoproteinemias/sangue
Hipobetalipoproteinemias/fisiopatologia
Modelos Lineares
Lipoproteínas HDL/sangue
Lipoproteínas LDL/sangue
Masculino
Meia-Idade
Análise Multivariada
Mutação
Linhagem
Fenótipo
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ANGPTL3 protein, human); 0 (Angiopoietin-like Proteins); 0 (Angiopoietins); 0 (Apolipoproteins B); 0 (Lipoproteins, HDL); 0 (Lipoproteins, LDL)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-4043


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[PMID]:27804036
[Au] Autor:Noto D; Arca M; Tarugi P; Cefalù AB; Barbagallo CM; Averna MR
[Ad] Endereço:Department of Biomedicine, Internal Medicine and Medical Specialties (DIBIMIS), University of Palermo, Palermo, Italy. DN40611@policlinico.pa.it.
[Ti] Título:Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.
[So] Source:Acta Diabetol;54(2):111-122, 2017 Feb.
[Is] ISSN:1432-5233
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Statin therapy is beneficial in reducing LDL cholesterol (LDL-C) levels and cardiovascular events, but it is associated with the risk of incident diabetes mellitus (DM). Familial hypercholesterolemia (FH) is characterized by genetically determined high levels of plasma LDL-C and a low prevalence of DM. LDL-C levels seem then inversely correlated with prevalence of DM. Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). This review explores the hypothesis that FHBL might represent also the genetic mirror of FH in terms of prevalence of DM and that it is expected to be increased in FHBL in comparison with the general population. A systematic review of published literature on FHBL was made by searching PubMed (1980-2016) for articles presenting clinical data on FHBL probands and relatives. The standardized prevalence rates of DM in FHBL1 were similar to those of the reference population, with a prevalence rate of 8.2 and 9.2%, respectively, while FHBL2 showed a 4.9% prevalence of DM. In conclusion, low LDL-C levels of FHBL do not seem connected to DM as it happens in subjects undergoing statin therapy and the diabetogenic effect of statins has to be explained by mechanisms that do not rely exclusively on the reduced levels of LDL-C. The review also summarizes the published data on the effects of FHBL on insulin sensitivity and the relationships between FH, statin therapy, FHBL1 and intracellular cholesterol metabolism, evaluating possible diabetogenic pathways.
[Mh] Termos MeSH primário: LDL-Colesterol/sangue
Diabetes Mellitus/epidemiologia
Hipobetalipoproteinemias/epidemiologia
[Mh] Termos MeSH secundário: Diabetes Mellitus/sangue
Diabetes Mellitus/genética
Feminino
Seres Humanos
Hipobetalipoproteinemias/sangue
Hipobetalipoproteinemias/genética
Masculino
Prevalência
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (Cholesterol, LDL)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161103
[St] Status:MEDLINE
[do] DOI:10.1007/s00592-016-0931-4


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[PMID]:27599970
[Au] Autor:Khan NZ; Lindquist E; Alezzawi M; Aronsson H
[Ad] Endereço:Department of Biotechnology, University of Malakand, Malakand, Pakistan.
[Ti] Título:Understanding Plastid Vesicle Transport - Could it Provide Benefit for Human Medicine?
[So] Source:Mini Rev Med Chem;17(13):1128-1139, 2017.
[Is] ISSN:1875-5607
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: In plants, vesicle transport occurs in the secretory pathway in the cytosol, between the membranes of different compartments. Several protein components have been identified to be involved in the process and their functions were characterized. Both cargos and other molecules (such as hormones) have been shown to use vesicle transport, although the major constituents of vesicles are lipids which are transferred from donor to acceptor membranes. In humans, malfunction of the cytosolic vesicle transport system leads to different diseases. METHOD: To better understand and ultimately cure these human diseases, studying other model systems such as yeast can be beneficial. Plants with their cytosolic vesicle transport system could serve as another model system. However, this review focuses on plant vesicles not present in the cytosol but in the chloroplasts, where lipids produced in the surrounding envelope are transported through the aqueous stroma to the thylakoid membranes. Although chloroplast vesicles have found both biochemical and ultrastructural support, only two proteins have been characterized as components of the pathway. However, using bioinformatics a number of other proteins have been suggested as homologs to the cytosolic system. RESULTS & CONCLUSION: Based on these findings vesicles of chloroplasts are likely most similar to the vesicles trafficking from ER to Golgi, or may even be unique, but important experimental support is yet lacking. In this review, proposed vesicle transport components in chloroplasts are presented, and their possible future implementation for human medicine is discussed.
[Mh] Termos MeSH primário: Vesículas Revestidas pelo Complexo de Proteína do Envoltório/metabolismo
Plastídeos/metabolismo
[Mh] Termos MeSH secundário: Transporte Biológico
Vesículas Revestidas pelo Complexo de Proteína do Envoltório/química
Cloroplastos/metabolismo
Coroideremia/tratamento farmacológico
Seres Humanos
Doença de Huntington/tratamento farmacológico
Hipobetalipoproteinemias/tratamento farmacológico
Síndromes de Malabsorção/tratamento farmacológico
Proteínas Monoméricas de Ligação ao GTP/química
Proteínas Monoméricas de Ligação ao GTP/metabolismo
Proteínas Monoméricas de Ligação ao GTP/uso terapêutico
Plantas/metabolismo
Proteínas SNARE/química
Proteínas SNARE/metabolismo
Proteínas SNARE/uso terapêutico
Proteínas rab de Ligação ao GTP/química
Proteínas rab de Ligação ao GTP/metabolismo
Proteínas rab de Ligação ao GTP/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (SNARE Proteins); EC 3.6.1.- (SAR1B protein, human); EC 3.6.5.2 (Monomeric GTP-Binding Proteins); EC 3.6.5.2 (rab GTP-Binding Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160908
[St] Status:MEDLINE
[do] DOI:10.2174/1389557516666160906102221


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[PMID]:27520363
[Au] Autor:Cuerq C; Restier L; Drai J; Blond E; Roux A; Charriere S; Michalski MC; Di Filippo M; Levy E; Lachaux A; Peretti N
[Ad] Endereço:Biochemistry Department, Lyon Sud Hospital, Hospices Civils de Lyon, Lyon, France.
[Ti] Título:Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia.
[So] Source:Orphanet J Rare Dis;11(1):114, 2016 08 12.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vitamin E concentration is significantly reduced due to defects of chylomicron secretion. Vitamin E in adipose tissue (AT) and red blood cells (RBC) have been proposed as potential relevant biomarkers of vitamin E status but no reference values in children are available. The objectives were (i) to establish age-reference intervals in healthy children for α-tocopherol in plasma, red blood cells (RBC) and adipose tissue (AT) and (ii) to determine the variations of α-tocopherol in patients with CMRD after oral treatment with vitamin E. METHODS: This prospective study included 166 healthy children (1 month - 18 years) and 4 patients with CMRD. Blood and AT were collected in healthy children during a scheduled surgery and in patients before and after a 4-month treatment with α-tocopherol acetate. RESULTS: The reference ranges for α-tocopherol were 11.9 - 30 µmol/L in plasma, 2.0 - 7.8 µmol/L packed cells in RBC and 60 - 573 nmol/g in AT. α-tocopherol levels in plasma correlated with those of RBC (r = 0.31; p < 0.01). In patients with CMRD after 4 months treatment, α-tocopherol concentrations remained less than 70 % of the control values in plasma, increased by 180 % to reach normal values in RBC, and remained stable in the normal range in AT. CONCLUSION: This study establishes pediatric reference intervals for α-tocopherol in plasma, RBC and AT. These values will be beneficial in assessing accurate α-tocopherol status in children and to optimize the monitoring of rare diseases such as CMRD. Our data suggest that RBC α-tocopherol, appears as a relevant biomarker to appreciate the effectiveness of treatment with α-tocopherol in patients with a rare primary hypocholesterolemia. The biopsy of AT could be used at diagnosis to assess the severity of the vitamin E deficiency and periodically after a long duration of vitamin E therapy to assess whether the treatment is effective, based on reference intervals defined in this study.
[Mh] Termos MeSH primário: Tecido Adiposo/metabolismo
Eritrócitos/metabolismo
Hipobetalipoproteinemias/sangue
Hipobetalipoproteinemias/metabolismo
Síndromes de Malabsorção/sangue
Síndromes de Malabsorção/metabolismo
alfa-Tocoferol/sangue
alfa-Tocoferol/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Erros Inatos do Metabolismo/sangue
Erros Inatos do Metabolismo/metabolismo
Estudos Prospectivos
Valores de Referência
Vitamina E/sangue
Vitamina E/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
1406-18-4 (Vitamin E); H4N855PNZ1 (alpha-Tocopherol)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160814
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-016-0498-8


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[PMID]:27487388
[Au] Autor:Walsh MT; Di Leo E; Okur I; Tarugi P; Hussain MM
[Ad] Endereço:School of Graduate Studies, Molecular and Cell Biology Program, State University of New York Downstate Medical Center, Brooklyn, NY 11203, United States; Department of Cell Biology, State University of New York Downstate Medical Center, Brooklyn, NY 11203, United States.
[Ti] Título:Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
[So] Source:Biochim Biophys Acta;1861(11):1623-1633, 2016 Nov.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients. In these patients, we identified two previously uncharacterized missense mutations in the microsomal triglyceride transfer protein (MTP) gene, R46G and D361Y, and studied their functional effects. We also characterized three missense mutations (H297Q, D384A, and G661A) reported earlier in a familial hypobetalipoproteinemia patient. R46G had no effect on MTP expression or function and supported apoB secretion. H297Q, D384A, and G661A mutants also supported apoB secretion similarly to WT MTP. Contrary to these four missense mutations, D361Y was unable to support apoB secretion. Functional analysis revealed that this mutant was unable to bind protein disulfide isomerase (PDI) or transfer lipids. The negative charge at residue 361 was critical for MTP function as D361E was able to support apoB secretion and transfer lipids. D361Y most likely disrupts the tightly packed middle α-helical region of MTP, mitigates PDI binding, abolishes lipid transfer activity, and causes ABL. On the other hand, the hypolipidemia in the other two patients was not due to MTP dysfunction. Thus, in this study of five missense mutations spread throughout MTP's three structural domains found in three hypolipidemic patients, we found that four of the mutations did not affect MTP function. Thus, novel mutations that cause severe hypolipidemia probably exist in other genes in these patients, and their recognition may identify novel proteins involved in the synthesis and/or catabolism of plasma lipoproteins.
[Mh] Termos MeSH primário: Abetalipoproteinemia/genética
Proteínas de Transporte/química
Proteínas de Transporte/genética
Hipobetalipoproteinemias/genética
Mutação de Sentido Incorreto/genética
[Mh] Termos MeSH secundário: Abetalipoproteinemia/sangue
Sequência de Aminoácidos
Animais
Apolipoproteínas B/metabolismo
Células COS
Cercopithecus aethiops
Criança
Simulação por Computador
Retículo Endoplasmático/metabolismo
Regulação da Expressão Gênica
Seres Humanos
Hipobetalipoproteinemias/sangue
Lactente
Metabolismo dos Lipídeos/genética
Masculino
Fenótipo
Ligação Proteica
Isomerases de Dissulfetos de Proteínas/metabolismo
Alinhamento de Sequência
Relação Estrutura-Atividade
Triglicerídeos/metabolismo
Vitaminas/sangue
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins B); 0 (Carrier Proteins); 0 (Triglycerides); 0 (Vitamins); 0 (microsomal triglyceride transfer protein); EC 5.3.4.1 (Protein Disulfide-Isomerases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160804
[St] Status:MEDLINE


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[PMID]:27266643
[Au] Autor:Ben Ameur S; Aloulou H; Jlidi N; Kamoun F; Chabchoub I; Di Filippo M; Sfaihi L; Hachicha M
[Ad] Endereço:Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia. Electronic address: benameursalma@gmail.com.
[Ti] Título:Chylomicron retention disease: A rare cause of chronic diarrhea.
[So] Source:Arch Pediatr;23(7):735-7, 2016 Jul.
[Is] ISSN:1769-664X
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
[Mh] Termos MeSH primário: Diarreia/etiologia
Hipobetalipoproteinemias/complicações
Síndromes de Malabsorção/complicações
[Mh] Termos MeSH secundário: Doença Crônica
Insuficiência de Crescimento/etiologia
Feminino
Seres Humanos
Hipobetalipoproteinemias/diagnóstico
Hipobetalipoproteinemias/genética
Lactente
Síndromes de Malabsorção/diagnóstico
Síndromes de Malabsorção/genética
Proteínas Monoméricas de Ligação ao GTP/genética
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.- (SAR1B protein, human); EC 3.6.5.2 (Monomeric GTP-Binding Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160609
[St] Status:MEDLINE


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[PMID]:27236148
[Au] Autor:Mateos-Muñoz B; Devesa-Medina MJ; Matía-Martín MP; Torrejón MJ; Suárez A; Larrad-Sáinz A; Rey-Díaz-Rubio E; Cárdenas MC; Ortega-Medina L; Ladero JM
[Ad] Endereço:Services of Gastroenterology Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
[Ti] Título: The relation of fibrosis stage with nutritional deficiencies and bioelectrical impedance analysis of body composition in patients with chronic hepatitis C.
[So] Source:Ann Hepatol;15(4):492-500, 2016 Jul-Aug.
[Is] ISSN:1665-2681
[Cp] País de publicação:Mexico
[La] Idioma:eng
[Ab] Resumo:UNLABELLED:  Background. Nutritional deficiencies may aggravate the course of chronic hepatitis C (CHC). Our aim has been to perform a comprehensive analysis of body composition and nutritional deficiencies in CHC patients in non-cirrhotic and compensated cirrhotic stages to correlate the detected deficiencies with the fibrosis stage. MATERIAL AND METHODS: Body multifrequency bioimpedance analysis (BIA) and a wide and simultaneous analytical profile were prospectively performed in 74 CHC patients (36 male) with known METAVIR fibrosis stage established with liver biopsy or transient elastography. Results were analyzed to identify deviations from the normal range and variations according to the fibrosis stage. RESULTS: Body fat compartment was greater in women. Body composition did not change among the 4 stages of liver fibrosis. Low levels (< 30 µg/L) of vitamin D were detected in 74.3% of patients irrespective of the fibrosis stage. Most analytical results remained into the normal range with the exceptions of thrombocytopenia and vitamin A deficiency, that were limited to the stage 4 of fibrosis, and low Zn and LDL-cholesterol values, that were frequently found in patients with advanced (F3 and F4) fibrosis stage. CONCLUSION: Body composition and most biochemical parameters, including cyanocobalamin, folic acid and vitamin E, are well preserved in compensated patients with CHC, with the exception of generalized vitamin D insufficiency and of deficiencies of vitamin A and zinc that are restricted to the more advanced, although still compensated, stages of the disease.
[Mh] Termos MeSH primário: Composição Corporal
Hepatite C Crônica/sangue
Hipobetalipoproteinemias/sangue
Cirrose Hepática/sangue
Deficiência de Vitamina A/sangue
Deficiência de Vitamina D/sangue
Zinco/sangue
[Mh] Termos MeSH secundário: Idoso
Biópsia
LDL-Colesterol/sangue
Técnicas de Imagem por Elasticidade
Impedância Elétrica
Feminino
Ácido Fólico/sangue
Hepatite C Crônica/epidemiologia
Seres Humanos
Hipobetalipoproteinemias/epidemiologia
Fígado/diagnóstico por imagem
Fígado/patologia
Cirrose Hepática/diagnóstico por imagem
Cirrose Hepática/epidemiologia
Masculino
Desnutrição/sangue
Desnutrição/epidemiologia
Meia-Idade
Índice de Gravidade de Doença
Trombocitopenia/epidemiologia
Deficiência de Vitamina A/epidemiologia
Vitamina B 12/sangue
Deficiência de Vitamina D/epidemiologia
Vitamina E/sangue
Zinco/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cholesterol, LDL); 1406-18-4 (Vitamin E); 935E97BOY8 (Folic Acid); J41CSQ7QDS (Zinc); P6YC3EG204 (Vitamin B 12)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160529
[St] Status:MEDLINE


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[PMID]:27206948
[Au] Autor:Miller SA; Hooper AJ; Mantiri GA; Marais D; Tanyanyiwa DM; McKnight J; Burnett JR
[Ad] Endereço:School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
[Ti] Título:Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
[So] Source:J Clin Lipidol;10(3):604-9, 2016 May-Jun.
[Is] ISSN:1933-2874
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: One genetic cause of markedly low plasma concentrations of apolipoprotein (apo) B and low density lipoprotein (LDL)-cholesterol is familial hypobetalipoproteinemia. OBJECTIVE: We aimed to determine the molecular basis for the marked hypocholesterolemia consistent with heterozygous familial hypobetalipoproteinemia in a black female subject of Xhosa lineage. METHODS: Coding regions of APOB, MTTP, PCSK9,ANGPTL3, SAR1B and APOC3 were sequenced, and APOE was genotyped. COS-7 cells were transfected with plasmids containing apoB variants. Western blotting was used to detect cellular and secreted apoB, and co-immunoprecipitation performed to assess binding with the microsomal triglyceride transfer protein (MTP). RESULTS: Sequence analysis of the APOB gene revealed her to be heterozygous for two novel variants, c.751G>A (A224T) and c.2854G>C (V925L). She was also homozygous for the APOEε2 allele, and did not carry a PCSK9 loss-of-function mutation. Although Ala(224) is within the postulated MTP binding region in apoB, it is not conserved among mammalian species. Subsequent genotyping showed that Ala224Thr is found in a southern African population (n=654) with an allele frequency of 1.15% and is not associated with plasma lipid levels. Val(925), like Ala(224), is within the N-terminal 1000 amino acids required for lipoprotein assembly, but was not found in the population screen. However, in vitro studies showed that apoB V925L did not affect apoB48 production or secretion nor have a deleterious effect on MTP interaction with apoB. CONCLUSION: Taken together, this suggests that the hypocholesterolemia in our case may be a result of being homozygous for APOEε2 with a low baseline cholesterol.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Africano/genética
Apolipoproteínas B/genética
Hipobetalipoproteinemias/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Adulto
Animais
Apolipoproteínas B/química
Apolipoproteínas E/genética
Células COS
Cercopithecus aethiops
Feminino
Homozigoto
Seres Humanos
Modelos Moleculares
Domínios Proteicos
África do Sul/etnologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins B); 0 (Apolipoproteins E)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160522
[St] Status:MEDLINE


  10 / 318 MEDLINE  
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[PMID]:27040449
[Au] Autor:Minicocci I; Tikka A; Poggiogalle E; Metso J; Montali A; Ceci F; Labbadia G; Fontana M; Di Costanzo A; Maranghi M; Rosano A; Ehnholm C; Donini LM; Jauhiainen M; Arca M
[Ad] Endereço:Departments of Internal Medicine and Medical Specialties, Sapienza University of Rome, Rome, Italy.
[Ti] Título:Effects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism.
[So] Source:J Lipid Res;57(6):1097-107, 2016 Jun.
[Is] ISSN:1539-7262
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The consequences of angiopoietin-like protein 3 (ANGPTL3) deficiency on postprandial lipid and lipoprotein metabolism has not been investigated in humans. We studied 7 homozygous (undetectable circulating ANGPTL3 levels) and 31 heterozygous (50% of circulating ANGPTL3 levels) subjects with familial combined hypolipidemia (FHBL2) due to inactivating ANGPTL3 mutations in comparison with 35 controls. All subjects were evaluated at fasting and during 6 h after a high fat meal. Postprandial lipid and lipoprotein changes were quantified by calculating the areas under the curve (AUCs) using the 6 h concentration data. Plasma changes of ß-hydroxybutyric acid (ß-HBA) were measured as marker of hepatic oxidation of fatty acids. Compared with controls, homozygotes showed lower incremental AUCs (iAUCs) of total TG (-69%, P < 0.001), TG-rich lipoproteins (-90%, P < 0.001), apoB-48 (-78%, P = 0.032), and larger absolute increase of FFA (128%, P < 00.1). Also, heterozygotes displayed attenuated postprandial lipemia, but the difference was significant only for the iAUC of apoB-48 (-28%; P < 0.05). During the postprandial period, homozygotes, but not heterozygotes, showed a lower increase of ß-HBA. Our findings demonstrate that complete ANGPTL3 deficiency associates with highly reduced postprandial lipemia probably due to faster catabolism of intestinally derived lipoproteins, larger expansion of the postprandial FFA pool, and decreased influx of dietary-derived fatty acids into the liver. These results add information on mechanisms underlying hypolipidemia in FHBL2.
[Mh] Termos MeSH primário: Angiopoietinas/genética
Ácidos Graxos não Esterificados/sangue
Hipobetalipoproteinemias/sangue
Lipídeos/sangue
[Mh] Termos MeSH secundário: Proteínas Semelhantes a Angiopoietina
Angiopoietinas/sangue
Angiopoietinas/deficiência
Apolipoproteína B-48/sangue
Feminino
Heterozigoto
Homozigoto
Seres Humanos
Hipobetalipoproteinemias/genética
Hipobetalipoproteinemias/patologia
Lipoproteínas/sangue
Masculino
Meia-Idade
Mutação
Período Pós-Prandial
Triglicerídeos/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ANGPTL3 protein, human); 0 (Angiopoietin-like Proteins); 0 (Angiopoietins); 0 (Apolipoprotein B-48); 0 (Fatty Acids, Nonesterified); 0 (Lipids); 0 (Lipoproteins); 0 (Triglycerides)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160405
[St] Status:MEDLINE
[do] DOI:10.1194/jlr.P066183



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