Base de dados : MEDLINE
Pesquisa : C23.550.177 [Categoria DeCS]
Referências encontradas : 470 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 47 ir para página                         

  1 / 470 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29173400
[Au] Autor:Schwartz PJ; Ackerman MJ; Wilde AAM
[Ad] Endereço:Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, c/o Centro Diagnostico e di Ricerca S. Carlo, Via Pier Lombardo, 22, Milan 20135, Italy. Electronic address: peter.schwartz@unipv.it.
[Ti] Título:Channelopathies as Causes of Sudden Cardiac Death.
[So] Source:Card Electrophysiol Clin;9(4):537-549, 2017 Dec.
[Is] ISSN:1877-9190
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This article reviews the main clinical aspects of 3 channelopathies: the long QT syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the Brugada syndrome. The text summarizes our views on clinical presentation and diagnosis, on risk stratification, and on therapy. Special attention is given to the progress in the understanding of the genetic bases and on the growing impact of genetics on therapy, which, at least in the case of long QT syndrome, now allows gene-specific management.
[Mh] Termos MeSH primário: Arritmias Cardíacas/genética
Canalopatias/genética
Morte Súbita Cardíaca
[Mh] Termos MeSH secundário: Seres Humanos
Risco
Canal de Liberação de Cálcio do Receptor de Rianodina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Ryanodine Receptor Calcium Release Channel)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171227
[Lr] Data última revisão:
171227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE


  2 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28662944
[Au] Autor:Matthews E; Silwal A; Sud R; Hanna MG; Manzur AY; Muntoni F; Munot P
[Ad] Endereço:Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: emma.matthews@ucl.ac.uk.
[Ti] Título:Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
[So] Source:J Pediatr;188:181-185.e6, 2017 Sep.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). CONCLUSIONS: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.
[Mh] Termos MeSH primário: Canalopatias/complicações
Transtornos Miotônicos/diagnóstico
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Absenteísmo
Adolescente
Obstrução das Vias Respiratórias
Canalopatias/diagnóstico
Criança
Pré-Escolar
Contratura/etiologia
Diplopia/etiologia
Feminino
Transtornos Neurológicos da Marcha
Seres Humanos
Lactente
Recém-Nascido
Masculino
Cãibra Muscular/etiologia
Hipotonia Muscular/etiologia
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Sons Respiratórios/etiologia
Estudos Retrospectivos
Escoliose/etiologia
Estrabismo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Sodium Channels)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE


  3 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28494607
[Au] Autor:Rajasekharan S; Martens L; Domingues L; Cauwels R
[Ad] Endereço:Department of Paediatric Dentistry & Special Care, PAECOMEDIS research cluster, Ghent University, Ghent, Belgium.
[Ti] Título:SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain. A case report.
[So] Source:Eur J Paediatr Dent;18(1):66-68, 2017 Mar.
[Is] ISSN:1591-996X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. CASE REPORT: A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unaccounted dental trauma episodes were frequently reported. Preventive instructions and possible treatment modalities were discussed with the parents. CONCLUSION: The cornerstone of treating CIP patients is an extensive preventive approach alongside regular oral examination at home by parents as well as routine recall appointments with dentists.
[Mh] Termos MeSH primário: Canalopatias/genética
Boca/lesões
Canal de Sódio Disparado por Voltagem NAV1.7/genética
Insensibilidade Congênita à Dor/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Feminino
Seres Humanos
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.7 Voltage-Gated Sodium Channel); 0 (SCN9A protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.23804/ejpd.2017.18.01.14


  4 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28444220
[Au] Autor:Coutelier M; Coarelli G; Monin ML; Konop J; Davoine CS; Tesson C; Valter R; Anheim M; Behin A; Castelnovo G; Charles P; David A; Ewenczyk C; Fradin M; Goizet C; Hannequin D; Labauge P; Riant F; Sarda P; Sznajer Y; Tison F; Ullmann U; Van Maldergem L; Mochel F; Brice A; Stevanin G; Durr A; SPATAX network
[Ad] Endereço:INSERM U 1127, 75013, Paris, France.
[Ti] Título:A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
[So] Source:Brain;140(6):1579-1594, 2017 Jun 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive assessment of frequency and phenotype of more 'conventional' ataxias. After exclusion of CAG/polyglutamine expansions in spinocerebellar ataxia genes in 412 index cases with dominantly inherited cerebellar ataxias, we aimed to establish the relative frequencies of mutations in other genes, with an approach combining panel sequencing and TaqMan® polymerase chain reaction assay. We found relevant genetic variants in 59 patients (14.3%). The most frequently mutated were channel genes [CACNA1A (n = 16), KCND3 (n = 4), KCNC3 (n = 2) and KCNA1 (n = 2)]. Deletions in ITPR1 (n = 11) were followed by biallelic variants in SPG7 (n = 9). Variants in AFG3L2 (n = 7) came next in frequency, and variants were rarely found in STBN2 (n = 2), ELOVL5, FGF14, STUB1 and TTBK2 (n = 1 each). Interestingly, possible risk factor variants were detected in SPG7 and POLG. Clinical comparisons showed that ataxias due to channelopathies had a significantly earlier age at onset with an average of 24.6 years, versus 40.9 years for polyglutamine expansion spinocerebellar ataxias and 37.8 years for SPG7-related forms (P = 0.001). In contrast, disease duration was significantly longer in the former (20.5 years versus 9.3 and 13.7, P=0.001), though for similar functional stages, indicating slower progression of the disease. Of interest, intellectual deficiency was more frequent in channel spinocerebellar ataxias, while cognitive impairment in adulthood was similar among the three groups. Similar differences were found among a single gene group, comparing 23 patients with CACNA1A expansions (spinocerebellar ataxia 6) to 22 patients with CACNA1A point mutations, which had lower average age at onset (25.2 versus 47.3 years) with longer disease duration (18.7 versus 10.9), but lower severity indexes (0.39 versus 0.44), indicating slower progression of the disease. In conclusion, we identified relevant genetic variations in up to 15% of cases after exclusion of polyglutamine expansion spinocerebellar ataxias, and confirmed CACNA1A and SPG7 as major ataxia genes. We could delineate firm genotype-phenotype correlations that are important for genetic counselling and of possible prognostic value.
[Mh] Termos MeSH primário: Canais de Cálcio/genética
Ataxia Cerebelar/genética
Ataxia Cerebelar/fisiopatologia
Canalopatias/genética
Canalopatias/fisiopatologia
Metaloendopeptidases/genética
[Mh] Termos MeSH secundário: ATPases Associadas a Diversas Atividades Celulares
Adolescente
Adulto
Idade de Início
Idoso
Idoso de 80 Anos ou mais
Criança
Pré-Escolar
Estudos de Coortes
Feminino
Genes Dominantes
Genótipo
Seres Humanos
Masculino
Meia-Idade
Fenótipo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CACNA1A protein, human); 0 (Calcium Channels); EC 3.4.24.- (Metalloendopeptidases); EC 3.4.24.- (SPG7 protein, human); EC 3.6.4.- (ATPases Associated with Diverse Cellular Activities)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx081


  5 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28389699
[Au] Autor:Albury CL; Stuart S; Haupt LM; Griffiths LR
[Ad] Endereço:Genomics Research Centre, Institute for Biomedical Health and Innovation, Queensland University of Technology, Brisbane, QLD, 4059, Australia.
[Ti] Título:Ion channelopathies and migraine pathogenesis.
[So] Source:Mol Genet Genomics;292(4):729-739, 2017 Aug.
[Is] ISSN:1617-4623
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Migraine is a common neurological disorder that affects approximately 12-20% of the general adult population. Migraine pathogenesis is complex and not wholly understood. Molecular genetic investigations, imaging and biochemical studies, have unveiled a number of interconnected neurological pathways which seem to have a cause and effect component integral to its cause. Much weight of migraine attack initiation can be placed on the initial trigger and the pathways involved in its neuronal counter reaction. Ion channels play a large role in the generation, portrayal and mitigation of the brains response to external triggers. Several genetic studies have identified and implicated a number of ion channelopathy genes which may contribute to this generalised process. This review will focus on the genetics of migraine with particular emphasis placed on the potentially important role genes HEPH (responsible for iron transport and homeostasis) and KCNK18 (important for the transport and homeostasis of potassium) play in migraine cause.
[Mh] Termos MeSH primário: Canalopatias/genética
Proteínas de Membrana/genética
Transtornos de Enxaqueca/genética
Dor Nociceptiva/genética
Canais de Potássio/genética
[Mh] Termos MeSH secundário: Adulto
Canalopatias/patologia
Feminino
Seres Humanos
Masculino
Transtornos de Enxaqueca/patologia
Dor Nociceptiva/patologia
Canais de Potássio/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (HEPH protein, human); 0 (KCNK18 protein, human); 0 (Membrane Proteins); 0 (Potassium Channels)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170409
[St] Status:MEDLINE
[do] DOI:10.1007/s00438-017-1317-1


  6 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28233036
[Au] Autor:Lang CN; Steinfurt J; Odening KE
[Ad] Endereço:Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, 79106, Freiburg, Germany.
[Ti] Título:Avoiding sports-related sudden cardiac death in children with congenital channelopathy : Recommendations for sports activities.
[Ti] Título:Vermeidung des sportbezogenen plötzlichen Herztods bei Kindern mit angeborenen Ionenkanalerkrankungen : Empfehlungen für sportliche Aktivitäten..
[So] Source:Herz;42(2):162-170, 2017 Apr.
[Is] ISSN:1615-6692
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:For the past few years, children affected by an inherited channelopathy have been counseled to avoid (recreational) sports activities and all competitive sports so as to prevent exercise-induced arrhythmia and sudden cardiac death. An increased understanding of the pathophysiological mechanisms, better anti-arrhythmic strategies, and, in particular, more epidemiological data on exercise-induced arrhythmia in active athletes with channelopathies have changed the universal recommendation of "no sports," leading to revised, less strict, and more differentiated guidelines (published by the American Heart Association/American College of Cardiology in 2015). In this review, we outline the disease- and genotype-specific mechanisms of exercise-induced arrhythmia; give an overview of trigger-, symptom-, and genotype-dependent guidance in sports activities for children with long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), or short QT syndrome (SQTS); and highlight the novelties in the current guidelines compared with previous versions. While it is still recommended for patients with LQT1 and CPVT (even when asymptomatic) and all symptomatic LQTS patients (independent of genotype) to avoid any competitive and high-intensity sports, other LQTS patients successfully treated with anti-arrhythmic therapies and phenotype-negative genotype-positive patients may be allowed to perform sports at different activity levels - provided they undergo regular, sophisticated evaluations to detect any changes in arrhythmogenic risk.
[Mh] Termos MeSH primário: Arritmias Cardíacas/congênito
Arritmias Cardíacas/prevenção & controle
Canalopatias/congênito
Canalopatias/prevenção & controle
Morte Súbita Cardíaca/prevenção & controle
Guias de Prática Clínica como Assunto
Esportes/normas
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Medicina Baseada em Evidências
Feminino
Seres Humanos
Masculino
Pediatria/normas
Medicina Esportiva/normas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170225
[St] Status:MEDLINE
[do] DOI:10.1007/s00059-017-4549-2


  7 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28150151
[Au] Autor:Huang W; Liu M; Yan SF; Yan N
[Ad] Endereço:State Key Laboratory of Membrane Biology, School of Life Sciences and School of Medicine, Tsinghua University, Beijing, 100084, China.
[Ti] Título:Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
[So] Source:Protein Cell;8(6):401-438, 2017 Jun.
[Is] ISSN:1674-8018
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Voltage-gated sodium (Na ) channels are essential for the rapid upstroke of action potentials and the propagation of electrical signals in nerves and muscles. Defects of Na channels are associated with a variety of channelopathies. More than 1000 disease-related mutations have been identified in Na channels, with Na 1.1 and Na 1.5 each harboring more than 400 mutations. Na channels represent major targets for a wide array of neurotoxins and drugs. Atomic structures of Na channels are required to understand their function and disease mechanisms. The recently determined atomic structure of the rabbit voltage-gated calcium (Ca ) channel Ca 1.1 provides a template for homology-based structural modeling of the evolutionarily related Na channels. In this Resource article, we summarized all the reported disease-related mutations in human Na channels, generated a homologous model of human Na 1.7, and structurally mapped disease-associated mutations. Before the determination of structures of human Na channels, the analysis presented here serves as the base framework for mechanistic investigation of Na channelopathies and for potential structure-based drug discovery.
[Mh] Termos MeSH primário: Canais de Cálcio Tipo L
Canalopatias
Mutação
Canal de Sódio Disparado por Voltagem NAV1.1
Canal de Sódio Disparado por Voltagem NAV1.5
Canal de Sódio Disparado por Voltagem NAV1.7
[Mh] Termos MeSH secundário: Animais
Canais de Cálcio Tipo L/química
Canais de Cálcio Tipo L/genética
Canais de Cálcio Tipo L/metabolismo
Canalopatias/genética
Canalopatias/metabolismo
Seres Humanos
Canal de Sódio Disparado por Voltagem NAV1.1/química
Canal de Sódio Disparado por Voltagem NAV1.1/genética
Canal de Sódio Disparado por Voltagem NAV1.1/metabolismo
Canal de Sódio Disparado por Voltagem NAV1.5/química
Canal de Sódio Disparado por Voltagem NAV1.5/genética
Canal de Sódio Disparado por Voltagem NAV1.5/metabolismo
Canal de Sódio Disparado por Voltagem NAV1.7/química
Canal de Sódio Disparado por Voltagem NAV1.7/genética
Canal de Sódio Disparado por Voltagem NAV1.7/metabolismo
Domínios Proteicos
Coelhos
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Calcium Channels, L-Type); 0 (NAV1.1 Voltage-Gated Sodium Channel); 0 (NAV1.5 Voltage-Gated Sodium Channel); 0 (NAV1.7 Voltage-Gated Sodium Channel); 0 (SCN1A protein, human); 0 (SCN5A protein, human); 0 (SCN9A protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170203
[St] Status:MEDLINE
[do] DOI:10.1007/s13238-017-0372-z


  8 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28131627
[Au] Autor:Paninka RM; Carlos-Lima E; Lindsey SC; Kunii IS; Dias-da-Silva MR; Arcisio-Miranda M
[Ad] Endereço:Laboratório de Neurobiologia Estrutural e Funcional, Departamento de Biofísica, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil; Laboratório de Endocrinologia Molecular e Translacional, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, S
[Ti] Título:Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.
[So] Source:Neuroscience;346:197-202, 2017 Mar 27.
[Is] ISSN:1873-7544
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Inward rectifying potassium - Kir - channels drive the resting potential to potassium reversal potential and, when disrupted, might be related to muscular diseases. Recently, Thyrotoxic Periodic Paralysis (TPP) has emerged as a channelopathy related to mutations in KCNJ18 gene, which encodes Kir2.6 channel. TPP is a neuromuscular disorder characterized by a triad of muscle weakness, hypokalemia, and thyrotoxicosis, the latter being essential for the crisis. Direct sequencing revealed two heterozygous mutations - D252N and R386C - in two TPP patients. KCNJ18 cDNAs were cloned into mammalian expression plasmids and transiently expressed in HEK 293T cells to investigate the functional effects of Kir2.6 mutations. Patch-clamp and confocal laser scanning microscopy experiments were carried out, comparing the WT channel to its mutants. D252N mutation down-regulates the Kir2.6 activity, decreasing the K current density (∼34%) when compared to the WT channel; whereas the mutation R386C shows no significant changes from WT. The mutant D252N Kir2.6 channel also showed a substantial reduction of ∼51% in membrane abundance relative to WT channel. Our study describes the functional consequences of a single amino acid change in Kir2.6 channel. Further analysis regarding hormonal conditions and Kir channel expression are required to provide new clues about the TPP pathophysiology.
[Mh] Termos MeSH primário: Canalopatias/genética
Predisposição Genética para Doença
Mutação
Canais de Potássio Corretores do Fluxo de Internalização/genética
[Mh] Termos MeSH secundário: Adulto
Membrana Celular/metabolismo
Canalopatias/complicações
Regulação para Baixo
Células HEK293
Seres Humanos
Hipopotassemia/genética
Masculino
Debilidade Muscular/genética
Canais de Potássio Corretores do Fluxo de Internalização/fisiologia
Tireotoxicose/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KCNJ18 protein, human); 0 (Potassium Channels, Inwardly Rectifying)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170130
[St] Status:MEDLINE


  9 / 470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28084956
[Au] Autor:Tester DJ; Ackerman MJ
[Ad] Endereço:Departments of Cardiovascular Diseases,Pediatrics and Molecular Pharmacology & Experimental Therapeutics,Divisions of Heart Rhythm Services and Pediatric Cardiology,Windland Smith Rice Sudden Death Genomics Laboratory,Mayo Clinic,Rochester,Minnesota,United States of America.
[Ti] Título:Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.
[So] Source:Cardiol Young;27(S1):S19-S24, 2017 Jan.
[Is] ISSN:1467-1107
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The molecular millennium has bestowed clinicians and researchers with the essential tools to identify the underlying genetic substrates for thousands of genetic disorders, most of which are rare and follow Mendelian inheritance patterns. The genetic basis of potentially lethal and heritable cardiomyopathies and cardiac channelopathies has been identified and are now better understood. Genetic testing for several of these heritable conditions has made its transition from discovery through translation and have been commercially available clinical tests for over a decade. Now that clinical genetic testing is available more readily and delivers a disease-specific impact across the triad of medicine - diagnostic, prognostic, and therapeutic - it is important for the community of cardiologists to not only be familiar with the language of genomic medicine but to also be wiser users and even wiser interpreters of genetic testing so that wise decisions can be rendered for those patients and their families being evaluated with respect to the presence or absence of one of these potentially lethal yet highly treatable genetic disorders. The purpose of this review is to provide the reader with a foundational understanding of genetic testing in clinical cardiology. Here, we will present some benefits of genetic testing: indications for either post-mortem genetic testing for the major cardiomyopathies and channelopathies or pre-mortem genetic testing among the decedent's surviving relatives; the need for careful interpretation of genetic testing results; the importance of genetic counselling; and some points on the ethical and societal implications of genetic testing.
[Mh] Termos MeSH primário: Cardiomiopatias/genética
Morte Súbita Cardíaca/etiologia
Família
Testes Genéticos
Síndrome do QT Longo/genética
Sobreviventes
[Mh] Termos MeSH secundário: Cardiologia
Canalopatias/genética
Aconselhamento Genético
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170214
[Lr] Data última revisão:
170214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170114
[St] Status:MEDLINE
[do] DOI:10.1017/S1047951116002183


  10 / 470 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28074886
[Au] Autor:Neubauer J; Lecca MR; Russo G; Bartsch C; Medeiros-Domingo A; Berger W; Haas C
[Ad] Endereço:Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.
[Ti] Título:Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
[So] Source:Eur J Hum Genet;25(4):404-409, 2017 Apr.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/genética
Canalopatias/genética
Exoma
Erros Inatos do Metabolismo/genética
Morte Súbita do Lactente/genética
[Mh] Termos MeSH secundário: Doenças Cardiovasculares/diagnóstico
Canalopatias/diagnóstico
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Erros Inatos do Metabolismo/diagnóstico
Morte Súbita do Lactente/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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:170112
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2016.199



página 1 de 47 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde