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[PMID]:29315315
[Au] Autor:Lollert A; Stihl C; Hötker AM; Mengel E; König J; Laudemann K; Gökce S; Düber C; Staatz G
[Ad] Endereço:Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany.
[Ti] Título:Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy.
[So] Source:PLoS One;13(1):e0190784, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri score). In addition, a long-term retrospective data analysis was performed to evaluate treatment response to enzyme replacement therapy with alglucosidase alfa. METHODS: MR images of the lumbar spine were acquired in 41 patients diagnosed with late-onset Pompe disease from 2006 through 2015. Two independent readers retrospectively evaluated fatty degeneration of the psoas and paraspinal muscles by applying the Mercuri score. Quantitative semi-automated muscle and fat tissue separation was performed, and inter-observer agreement and correlations with clinical parameters were assessed. Follow-up examinations were performed in 13 patients treated with alglucosidase alfa after a median of 39 months; in 7/13 patients, an additional follow-up examination was completed after a median of 63 months. RESULTS: Inter-observer agreement was high. Measurements derived from the quantitative method correlated well with Medical Research Council scores of muscle strength, with moderate correlations found for the 6-minute walk test, the 4-step stair climb test, and spirometry in the supine position. A significant increase in the MR-derived fat fraction of the psoas muscle was found between baseline and follow-up 1 (P = 0.016), as was a significant decrease in the performance on the 6-minute walk test (P = 0.006) and 4-step stair climb test (P = 0.034), as well as plasma creatine kinase (P = 0.016). No statistically significant difference in clinical or MR-derived parameters was found between follow-up 1 and follow-up 2. CONCLUSIONS: Quantification of fatty muscle degeneration using the semi-automated method can provide a more detailed overview of disease progression than semi-quantitative Mercuri scoring. MR-derived data correlated with clinical symptoms and patient exercise capacity. After an initial worsening, the fat fraction of the psoas muscle and performance on the 6-minute walk test stayed constant during long-term follow-up under enzyme replacement therapy.
[Mh] Termos MeSH primário: Tecido Adiposo/diagnóstico por imagem
Terapia de Reposição de Enzimas/métodos
Doença de Depósito de Glicogênio Tipo II/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
Músculo Esquelético/diagnóstico por imagem
alfa-Glucosidases/administração & dosagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Idoso
Criança
Feminino
Seguimentos
Doença de Depósito de Glicogênio Tipo II/etiologia
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/patologia
Variações Dependentes do Observador
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180110
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190784


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[PMID]:29274340
[Au] Autor:Park H; Kim J; Lee YK; Kim W; You SK; Do J; Jang Y; Oh DB; Il Kim J; Kim HH
[Ad] Endereço:Biotherapeutics and Glycomics Laboratory, College of Pharmacy, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul 06944, South Korea.
[Ti] Título:Four unreported types of glycans containing mannose-6-phosphate are heterogeneously attached at three sites (including newly found Asn 233) to recombinant human acid alpha-glucosidase that is the only approved treatment for Pompe disease.
[So] Source:Biochem Biophys Res Commun;495(4):2418-2424, 2018 01 22.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Myozyme is a recombinant human acid alpha-glucosidase (rhGAA) that is currently the only drug approved for treating Pompe disease, and its low efficacy means that a high dose is required. Mannose-6-phosphate (M6P) glycosylation on rhGAA is a key factor influencing lysosomal enzyme targeting and the efficacy of enzyme replacement therapy (ERT); however, its complex structure and relatively small quantity still remain to be characterized. This study investigated M6P glycosylation on rhGAA using liquid chromatography (LC)-electrospray ionization (ESI)-high-energy collisional dissociation (HCD) tandem mass spectrometry (MS/MS). The glycans released from rhGAA were labeled with procainamide to improve mass ionization efficiency and the sensitivity of MS/MS. The relative quantities (%) of 78 glycans were obtained, and 1.0% of them were glycans containing M6P (M6P glycans). These were categorized according to their structure into 4 types: 3 newly found ones, comprising high-mannose-type M6P glycans capped with N-acetylglucosamine (GlcNAc) (2 variants, 17.5%), hybrid-type M6P glycans (2 variants, 11.2%), and hybrid-type M6P glycans capped with GlcNAc (3 variants, 6.9%), as well as high-mannose-type M6P glycans (3 variants, 64.4%). HCD-MS/MS spectra identified six distinctive M6P-derived oxonium ions. The glycopeptides obtained from protease-digested rhGAA were analyzed using nano-LC-ESI-HCD-MS/MS, and the extracted-ion chromatograms of M6P-derived oxonium ions confirmed three M6P glycosylation sites comprising Asn 140, Asn 233 (newly found), and Asn 470 attached heterogeneously to nine M6P glycans (two types), eight M6P glycans (four types), and seven M6P glycans (two types), respectively. This is the first study of rhGAA to differentiate M6P glycans and identify their attachment sites, despite rhGAA already being an approved drug for Pompe disease.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico
Manosefosfatos/química
Manosefosfatos/uso terapêutico
Polissacarídeos/química
Polissacarídeos/uso terapêutico
alfa-Glucosidases/química
alfa-Glucosidases/uso terapêutico
[Mh] Termos MeSH secundário: Sítios de Ligação
Aprovação de Drogas
Seres Humanos
Ligação Proteica
Proteínas Recombinantes/química
Proteínas Recombinantes/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Mannosephosphates); 0 (Polysaccharides); 0 (Recombinant Proteins); 3672-15-9 (mannose-6-phosphate); EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171224
[St] Status:MEDLINE


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[PMID]:29390460
[Au] Autor:Martínez M; Romero MG; Guereta LG; Cabrera M; Regojo RM; Albajara L; Couce ML; Pipaon MS
[Ad] Endereço:Department of Neonatology-Pediatrics.
[Ti] Título:Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
[So] Source:Medicine (Baltimore);96(51):e9186, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. DIAGNOSES: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. INTERVENTIONS: Parents initially refused replacement therapy. OUTCOMES: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. LESSONS: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots.
[Mh] Termos MeSH primário: Cardiomiopatia Hipertrófica/etiologia
Doença de Depósito de Glicogênio Tipo II/diagnóstico
Doença de Depósito de Glicogênio Tipo II/genética
Fibrilação Ventricular/diagnóstico
alfa-Glucosidases/genética
[Mh] Termos MeSH secundário: Biópsia por Agulha
Cardiomiopatia Hipertrófica/fisiopatologia
Cardiomiopatia Hipertrófica/terapia
Progressão da Doença
Evolução Fatal
Doença de Depósito de Glicogênio Tipo II/complicações
Homozigoto
Seres Humanos
Imuno-Histoquímica
Recém-Nascido
Doenças do Recém-Nascido/diagnóstico
Doenças do Recém-Nascido/terapia
Masculino
Mutação
Doenças Raras
Medição de Risco
Índice de Gravidade de Doença
Fibrilação Ventricular/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009186


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[PMID]:28451990
[Au] Autor:Solav D; Meric H; Rubin MB; Pradon D; Lofaso F; Wolf A
[Ad] Endereço:Faculty of Mechanical Engineering, Technion Israel Institute of Technology, 32000, Haifa, Israel. danask@mit.edu.
[Ti] Título:Chest Wall Kinematics Using Triangular Cosserat Point Elements in Healthy and Neuromuscular Subjects.
[So] Source:Ann Biomed Eng;45(8):1963-1973, 2017 08.
[Is] ISSN:1573-9686
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Optoelectronic plethysmography (OEP) is a noninvasive method for assessing lung volume variations and the contributions of different anatomical compartments of the chest wall (CW) through measurements of the motion of markers attached to the CW surface. The present study proposes a new method for analyzing the local CW kinematics from OEP measurements based on the kinematics of triangular Cosserat point elements (TCPEs). 52 reflective markers were placed on the anterior CW to create a mesh of 78 triangles according to an anatomical model. Each triangle was characterized by a TCPE and its kinematics was described using four time-variant scalar TCPE parameters. The total CW volume ([Formula: see text]) and the contributions of its six compartments were also estimated, using the same markers. The method was evaluated using measurements of ten healthy subjects, nine patients with Pompe disease, and ten patients with Duchenne muscular dystrophy (DMD), during spontaneous breathing (SB) and vital capacity maneuvers (VC) in the supine position. TCPE parameters and compartmental volumes were compared with [Formula: see text] by computing the phase angles [Formula: see text] (for SB) and the correlation r (for VC) between them. Analysis of [Formula: see text] and r of the outward translation parameter [Formula: see text] of each TCPE revealed that for healthy subjects it provided similar results to those obtained by compartmental volumes, whereas for the neuromuscular patients the TCPE method was capable of detecting local asynchronous and paradoxical movements also in cases where they were undistinguished by volumes. Therefore, the TCPE approach provides additional information to OEP that may enhance its clinical evaluation capabilities.
[Mh] Termos MeSH primário: Medidas de Volume Pulmonar/métodos
Modelos Biológicos
Doenças Neuromusculares/fisiopatologia
Fotopletismografia/métodos
Mecânica Respiratória
Parede Torácica/fisiopatologia
Volume de Ventilação Pulmonar
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Simulação por Computador
Feminino
Análise de Elementos Finitos
Doença de Depósito de Glicogênio Tipo II
Seres Humanos
Masculino
Meia-Idade
Doenças Neuromusculares/diagnóstico
Valores de Referência
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1007/s10439-017-1840-6


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[PMID]:29095275
[Au] Autor:Hwang HE; Hsu TR; Lee YH; Wang HK; Chiou HJ; Niu DM
[Ad] Endereço:aDepartment of Radiology bDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
[Ti] Título:Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.
[So] Source:Medicine (Baltimore);96(44):e8415, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data including muscle ultrasound features, GAA gene mutation, activity/performance, and pathological and laboratory findings. The echogenicity of 6 muscles (the bilateral vastus intermedius, rectus femoris, and sartorius muscles) was compared to that of epimysium on ultrasound and rated either 1 (normal), 2 (mildly increased), or 3 (obviously increased). These grades were used to divide patients into 3 groups. IOPD was present in none of the grade-1 patients, 5 of 9 grade-2 patients, and 5 of 5 grade-3 patients (P < .001). Comparing grade-2 plus grade-3 patients to grade-1 patients, muscle ultrasound detected IOPD with a sensitivity and specificity of 100.0% (95% confidence interval [CI]: 69.2%-100%) and 84.0% (95% CI: 63.9%-95.5%), respectively. The mean number of affected muscles was larger in grade-3 patients than in grade-2 patients (4.2 vs. 2.0, P = .005). Mean alanine transaminase (ALT), aspartate transaminase (AST), creatine kinase (CK), and lactate dehydrogenase (LDH) levels were differed significantly different between grade-3 and grade-1 patients (P < .001). Because it permits direct visualization of injured muscles, muscle ultrasound can be used to screen for IOPD. Our echogenicity grades of muscle injury also correlate well with serum levels of muscle-injury biochemical markers.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo II/diagnóstico por imagem
Triagem Neonatal/métodos
Músculo Quadríceps/diagnóstico por imagem
Índice de Gravidade de Doença
Ultrassonografia/métodos
[Mh] Termos MeSH secundário: Alanina Transaminase/sangue
Aspartato Aminotransferases
Biomarcadores/sangue
Creatina Quinase/sangue
Feminino
Doença de Depósito de Glicogênio Tipo II/sangue
Seres Humanos
Recém-Nascido
L-Lactato Desidrogenase/sangue
Masculino
Estudos Retrospectivos
alfa-Glucosidases/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Biomarkers); EC 1.1.1.27 (L-Lactate Dehydrogenase); EC 2.6.1.1 (Aspartate Aminotransferases); EC 2.6.1.2 (Alanine Transaminase); EC 2.7.3.2 (Creatine Kinase); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171103
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008415


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[PMID]:28592044
[Au] Autor:Zhao H; Zhang XY; Wei R
[Ti] Título:[Dermatomyositis associated with glycogen storage disease type â…¡: a case report].
[So] Source:Zhonghua Nei Ke Za Zhi;56(6):438-440, 2017 Jun 01.
[Is] ISSN:0578-1426
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Dermatomiosite/diagnóstico
Doença de Depósito de Glicogênio Tipo II/diagnóstico
Glicogênio/metabolismo
[Mh] Termos MeSH secundário: Seres Humanos
Fígado
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9005-79-2 (Glycogen)
[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:170609
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1426.2017.06.010


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[PMID]:28592009
[Au] Autor:Luo JH; Qiu WJ; Fang D; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF
[Ad] Endereço:Department of Pediatric Endocrinology and Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
[Ti] Título:[Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type â…¡ with hypertrophic cardiomyopathy].
[So] Source:Zhonghua Er Ke Za Zhi;55(6):423-427, 2017 Jun 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the clinical and laboratory features of three children with late-onset type â…¡ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene.Five mutant pcDNA3.1-myc-his-GAA expression plasmids(p.G478R, p.P361L, p.P266S, p.Q323X, p.R672Q) were constructed and transient instantaneously transfected into 293T cells to analyze the enzyme activity and stability of GAA. All the three children had the onset of disease at 3 years or 1.5 years of age.They presented with developmental delay, muscle weakness and hypertrophic cardiomyopathy.GAA activity of 3 patients was 2.65, 3.55 and 1.51 pmol(punch·h)(8.00-98.02)respectively. Genetic analysis found 5 mutations (p.G478R, p. P361L, p. P266S, p. Q323X, p. R672Q), and all of these 3 cases had clinical manifestations and were diagnosed as late-onset type â…¡ glycogen storage disease.Five mutant pcDNA3.1-myc-his-GAA expression plasmids were transfected into 293T cells.Five mutant enzyme activities were found to be only 9.9%-22.5% of the wild-type enzyme activity and the protein expression of the five mutants was 32.0%-63.9% compared with the wild type. This study reports 3 children with late-onset GSD â…¡ accompanied by hypertrophic cardiomyopathy and compensatory stage of cardiac function in addition to limb muscle weakness.Five pathogenic mutations were identified, and these 5 mutations result in decreased GAA activity and GAA expression by in vitro functional analysis.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo II/genética
Mutação
alfa-Glucosidases/genética
[Mh] Termos MeSH secundário: Idade de Início
Cardiomiopatia Hipertrófica/complicações
Criança
DNA
Testes Genéticos
Glucana 1,4-alfa-Glucosidase
Doença de Depósito de Glicogênio Tipo II/complicações
Seres Humanos
Debilidade Muscular
Reação em Cadeia da Polimerase
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA); EC 3.2.1.20 (alpha-Glucosidases); EC 3.2.1.3 (Glucan 1,4-alpha-Glucosidase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.06.006


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[PMID]:28444756
[Au] Autor:Lyons RE; Johnston DJ; McGowan MR; Laing A; Robinson B; Owen H; Hill BD; Burns BM
[Ad] Endereço:The University of Queensland, School of Veterinary Science, Gatton, Queensland, Australia.
[Ti] Título:E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.
[So] Source:Aust Vet J;95(5):138-142, 2017 May.
[Is] ISSN:1751-0813
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle. Two calves with clinical signs of generalised glycogenosis were submitted for necropsy. RESULTS: One loss-of-function GAA mutation (1057ΔTA or E7 allele) was identified using SNP chip technology and confirmed using conventional diagnostic DNA tests. Further testing demonstrated that the mutation was common within this herd and that two ill-thrift calves were homozygous for the E7 allele. Parentage analysis confirmed both sire and dam as heterozygous carriers. Pathology consistent with generalised glycogenosis was found in the skeletal and cardiac muscle and spinal cord of both of the affected calves. The 1783C>T (E13) or 2454ΔCA (E18) mutations associated with generalised glycogenosis in the Brahman and Shorthorn breeds, respectively, were not detected. CONCLUSION: The lethal mutation 1057ΔTA of GAA is present in the Droughtmaster breed, with pathology identical to that reported in pure Brahman animals. Droughtmaster breeders should take action to prevent any increase in the prevalence of this lethal allele in the breed as it could cause both welfare issues and production losses if ignored.
[Mh] Termos MeSH primário: Doenças dos Bovinos/genética
Doença de Depósito de Glicogênio Tipo II/veterinária
[Mh] Termos MeSH secundário: Alelos
Animais
Autopsia/veterinária
Bovinos
Doenças dos Bovinos/patologia
Feminino
Genótipo
Doença de Depósito de Glicogênio Tipo II/genética
Doença de Depósito de Glicogênio Tipo II/patologia
Masculino
Mutação
Queensland
alfa-Glucosidases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1111/avj.12575


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[PMID]:28394184
[Au] Autor:Chen X; Liu T; Huang M; Wu J; Zhu J; Guo Y; Xu X; Li F; Wang J; Fu L
[Ad] Endereço:1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
[Ti] Título:Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
[So] Source:Genet Test Mol Biomarkers;21(6):391-396, 2017 Jun.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1.0-7.1 months) and 4.9 months (range: 2.7-8.3 months) at diagnosis. Only one patient received enzyme replacement therapy (ERT) and this child survived beyond the age of 2 years. Of the 24 patients not receiving ERT, all, but one patient, died at a median age of 8.3 months (range: 4.0-12.2 months). Thirteen novel and two common GAA mutations were identified in this study. The allelic frequency of c.2662G > T (p.Glu888X) was 23.1% in northern Chinese patients and 4.2% in southern Chinese patients, whereas the allelic frequency of c.1935C > A (p.Asp645Glu) was 20.8% in southern and 3.8% in northern Chinese patients. CONCLUSIONS: We identified the most common mutations in southern and northern Chinese patients with IOPD.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo II/genética
Doença de Depósito de Glicogênio Tipo II/metabolismo
alfa-Glucosidases/genética
[Mh] Termos MeSH secundário: Alelos
Grupo com Ancestrais do Continente Asiático/genética
China
Feminino
Frequência do Gene/genética
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutação
Reação em Cadeia da Polimerase
alfa-Glucosidases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0424


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[PMID]:28380188
[Au] Autor:Sixel BS; Silva LD; Cavalcanti NC; Penque GM; Lisboa S; Horovitz DD; Llerena JC
[Ad] Endereço:. Programa de Pós-Graduação em Pesquisa Aplicada à Saúde da Criança e da Mulher, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
[Ti] Título:Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
[So] Source:J Bras Pneumol;43(1):54-59, 2017 Jan-Feb.
[Is] ISSN:1806-3756
[Cp] País de publicação:Brazil
[La] Idioma:eng; por
[Ab] Resumo:Objective:: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods:: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results:: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, -4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions:: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis. Objetivo:: Descrever a função respiratória em uma série de pacientes com doença de Pompe de início tardio após o diagnóstico definitivo e antes do início do tratamento através de terapia de reposição enzimática. Métodos:: Estudo transversal em pacientes com diagnóstico molecular de doença de Pompe de início tardio. As informações analisadas incluíram idade ao início dos sintomas e ao diagnóstico, tipo de sintoma inicial, tempo entre início dos sintomas e diagnóstico, CVF em posição sentada e supina, distância percorrida no teste de caminhada de seis minutos e capacidade de locomoção. Análises por frequência, mediana, valor mínimo e valor máximo foram realizadas. Resultados:: Foram incluídos seis pacientes no estudo. A mediana de idade ao início dos sintomas foi de 15 anos (variação, 13-50 anos) e a de idade ao diagnóstico foi de 39,5 anos (variação, 10-63 anos). A mediana de tempo entre o início dos sintomas e a confirmação diagnóstica foi de 8 anos (variação, 0-45 anos). A manifestação inicial da doença foi de sintomas motores de fraqueza muscular em todos os casos. As medianas da CVF em porcentagem do previsto (CVF%) em posição sentada, em supino e ΔCVF% foram de, respectivamente, 71,0% (variação, 22,9-104,6%), 58,0% (variação, 10,9-106,9%) e 24,5% (-4,59 a 52,40%). A mediana da distância percorrida no teste de caminhada de seis minutos foi de 391,7 m (variação, 97-702 m) . Conclusões:: Nesta série, o tempo entre o início dos sintomas e o diagnóstico foi longo. A manifestação inicial da doença não foi de sinais ou sintomas respiratórios, embora 66,7% dos pacientes apresentassem redução da CVF% em posição sentada e em supino no momento do diagnóstico.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo II/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Idade de Início
Brasil
Criança
Estudos Transversais
Diagnóstico Tardio
Doença de Depósito de Glicogênio Tipo II/fisiopatologia
Seres Humanos
Meia-Idade
Testes de Função Respiratória
Músculos Respiratórios/fisiopatologia
Capacidade Vital
Teste de Caminhada
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE



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