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[PMID]:27923540
[Au] Autor:Leruez-Ville M; Ville Y
[Ad] Endereço:EA 73-28, Université Paris Descartes, Sorbonne Paris Cité, Paris, 75005, France; AP-HP, Hôpital Necker-E.M., Laboratoire de Microbiologie Clinique. Centre national de Réfèrence Cytomegalovirus- Laboratoire associé, Paris, 75015, France.
[Ti] Título:Fetal cytomegalovirus infection.
[So] Source:Best Pract Res Clin Obstet Gynaecol;38:97-107, 2017 Jan.
[Is] ISSN:1532-1932
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. However, systematic screening for this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, difficulty in the diagnosis of maternal infection, absence of validated prenatal prognostic markers, unavailability of an efficient vaccine and scarcity of data available on the treatment. However, in the last decade, new data have emerged towards better management of this congenital infection, including solid epidemiological data, good evidence for the accuracy of diagnosis of maternal CMV infection and good evidence for the feasibility of predicting the outcome of fetal infection by a combination of fetal imaging and fetal laboratory parameters. There is also some evidence that valaciclovir treatment of mothers carrying an infected fetus is feasible, safe and might be effective. This review provides an update on the evidence for diagnosis, prognosis and treatment of congenital infection in the antenatal period. These suggest a benefit to a proactive approach for prenatal congenital infections.
[Mh] Termos MeSH primário: Infecções por Citomegalovirus/diagnóstico
Doenças Fetais/diagnóstico
Transmissão Vertical de Doença Infecciosa/prevenção & controle
Complicações Infecciosas na Gravidez/diagnóstico
[Mh] Termos MeSH secundário: Aciclovir/análogos & derivados
Aciclovir/uso terapêutico
Líquido Amniótico/virologia
Anticorpos Antivirais/sangue
Antivirais/uso terapêutico
Ascite/diagnóstico por imagem
Ascite/etiologia
Infecções por Citomegalovirus/complicações
Infecções por Citomegalovirus/congênito
Infecções por Citomegalovirus/tratamento farmacológico
DNA Viral/análise
Feminino
Doenças Fetais/tratamento farmacológico
Seres Humanos
Hidrocefalia/diagnóstico por imagem
Hidrocefalia/etiologia
Hidropisia Fetal/diagnóstico por imagem
Hidropisia Fetal/etiologia
Imunização Passiva
Imunoglobulina G/sangue
Imunoglobulina M/sangue
Lisencefalia/diagnóstico por imagem
Lisencefalia/etiologia
Microcefalia/diagnóstico por imagem
Microcefalia/etiologia
Oligo-Hidrâmnio/diagnóstico por imagem
Oligo-Hidrâmnio/etiologia
Poli-Hidrâmnios/diagnóstico por imagem
Poli-Hidrâmnios/etiologia
Porencefalia/diagnóstico por imagem
Porencefalia/etiologia
Gravidez
Complicações Infecciosas na Gravidez/tratamento farmacológico
Soroconversão
Ultrassonografia Pré-Natal
Valina/análogos & derivados
Valina/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Viral); 0 (Antiviral Agents); 0 (DNA, Viral); 0 (Immunoglobulin G); 0 (Immunoglobulin M); HG18B9YRS7 (Valine); MZ1IW7Q79D (valacyclovir); X4HES1O11F (Acyclovir)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170314
[Lr] Data última revisão:
170314
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161208
[St] Status:MEDLINE


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[PMID]:27764900
[Au] Autor:Sananès N; Gabriele V; Weingertner AS; Ruano R; Sanz-Cortes M; Gaudineau A; Langer B; Nisand I; Akladios CY; Favre R
[Ad] Endereço:Department of Obstetrics and Gynecology, Strasbourg University Hospital, Strasbourg, France.
[Ti] Título:Evaluation of long-term neurodevelopment in twin-twin transfusion syndrome after laser therapy.
[So] Source:Prenat Diagn;36(12):1139-1145, 2016 Dec.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD: This was a single-center cohort prospective study carried out in pregnancies complicated by TTTS and treated by laser. Neurodevleopmental assesment included the administration of Ages and Stages Questionnaires® (ASQ), for the infants between 2 and 5 years of age. RESULTS: A total of 187 patients underwent a laser for TTTS between 2004 and 2013. Significant brain lesions were detected in eight (2.9%) cases by ultrasound and/or magnetic resonance imaging including intraventricular hemorrhage, periventricular leukomalacia, and porencephaly. Questionnaires were administered to 126 children (50.4%) at 24 months or older at the moment of testing. There were 13.5% of those infants who had an abnormal ASQ (established as one area or more scoring < 2 SD) at 3.6 years ±1.3 follow-up. There was a higher rate of abnormal ASQ among the infants with a birth weight below the fifth percentile (p = 0.036). CONCLUSION: Twin-twin transfusion syndrome is associated with a risk of abnormal neurological development, even in case of laser surgery. Further studies are necessary to identify the risk factors for neurological impairment. © 2016 John Wiley & Sons, Ltd.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Hemorragia Cerebral/diagnóstico por imagem
Terapias Fetais/métodos
Transfusão Feto-Fetal/cirurgia
Terapia a Laser/métodos
Leucomalácia Periventricular/diagnóstico por imagem
Transtornos do Neurodesenvolvimento/fisiopatologia
Porencefalia/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Hemorragia Cerebral/epidemiologia
Ventrículos Cerebrais/diagnóstico por imagem
Pré-Escolar
Estudos de Coortes
Ecoencefalografia
Feminino
Seres Humanos
Leucomalácia Periventricular/epidemiologia
Imagem por Ressonância Magnética
Transtornos do Neurodesenvolvimento/epidemiologia
Porencefalia/epidemiologia
Gravidez
Estudos Prospectivos
Inquéritos e Questionários
Gêmeos Monozigóticos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4950


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[PMID]:27523321
[Au] Autor:Yamazaki M; Yoshimoto S; Ishikawa T; Une Y
[Ad] Endereço:Laboratory of Veterinary Pathology, Azabu University, 1-17-71 Fuchinobe, Chuo-ku, Sagamihara, Kanagawa 252-5201, Japan.
[Ti] Título:Porencephaly in a fennec fox (Vulpes zerda).
[So] Source:J Vet Med Sci;78(11):1749-751, 2016 Dec 01.
[Is] ISSN:1347-7439
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with cerebrospinal fluid and extended to the right lateral ventricle. Swelling and displacement of the right hippocampal area were also observed. Histologic examination revealed no evidence of previous infarct lesions, hemorrhage, inflammation or invasive tumor cells. Observation of the defective part suggested a local circulatory disorder during the fetal stage, although the cause was not detected. No neurological symptoms that could enable a provisional diagnosis were observed during the course of his life. This is the first report of asymptomatic porencephaly in a fennec fox.
[Mh] Termos MeSH primário: Cérebro/anormalidades
Raposas/anormalidades
Porencefalia/veterinária
[Mh] Termos MeSH secundário: Animais
Evolução Fatal
Linfoma de Células T/veterinária
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160816
[St] Status:MEDLINE


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[PMID]:26708157
[Au] Autor:Ha TT; Sadleir LG; Mandelstam SA; Paterson SJ; Scheffer IE; Gecz J; Corbett MA
[Ad] Endereço:School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
[Ti] Título:A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
[So] Source:Am J Med Genet A;170A(4):1059-63, 2016 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. Families with mutations in COL4A2 are now emerging with a similar phenotype. We describe a family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities, which was negative for mutations in COL4A1. Using whole exome sequencing of three affected individuals from three generations, we identified a rare variant in COL4A2. This COL4A2 (c.2399G>A, p.G800E, CCDS41907.1) variant was predicted to be damaging by multiple bioinformatics tools and affects an invariable glycine residue that is essential for the formation of collagen IV heterotrimers. The cataracts identified in this family expand the phenotypic spectrum associated with mutations in COL4A2 and highlight the increasing overlap with phenotypes associated with COL4A1 mutations.
[Mh] Termos MeSH primário: Catarata/diagnóstico
Catarata/genética
Colágeno Tipo IV/genética
Genes Dominantes
Mutação
Porencefalia/diagnóstico
Porencefalia/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Encéfalo/patologia
Exoma
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (COL4A2 protein, human); 0 (Collagen Type IV)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170125
[Lr] Data última revisão:
170125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151229
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37527


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[PMID]:26686511
[Au] Autor:Gasparini S; Qualtieri A; Ferlazzo E; Cianci V; Patitucci A; Spadafora P; Aguglia U
[Ad] Endereço:Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
[Ti] Título:Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.
[So] Source:Neurol Sci;37(3):459-63, 2016 Mar.
[Is] ISSN:1590-3478
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:COL4A1 mutations have been associated with cerebral small-vessel disease, including perinatal intracerebral hemorrhage with consequent porencephaly, microbleeds, and lacunar strokes. Moreover, involvement of multiple organs and tissues like kidney, muscle, and large vessels have been reported. Three related patients with porencephaly bearing the G749S mutation in the COL4A1 gene and one healthy control belonging to the same family underwent skin biopsy. Tissue was examined by means of immunofluorescence microscopy and immunoreactivity for collagen type IV in skin basement membranes was tested. In subjects with COL4A1 mutation, we did not detect significant alterations of immunofluorescence patterns in basal membranes of different skin structures. Heterozygous COL4A1 G749S mutation is associated with a normal immunofluorescence pattern of skin basement membranes. Further studies are needed to clarify the role of possible functional abnormalities of the basement membranes in patients with this mutation.
[Mh] Termos MeSH primário: Membrana Basal/patologia
Colágeno Tipo IV/metabolismo
Mutação
Porencefalia/genética
Porencefalia/patologia
[Mh] Termos MeSH secundário: Adulto
Membrana Basal/irrigação sanguínea
Membrana Basal/inervação
Membrana Basal/metabolismo
Colágeno Tipo IV/genética
Família
Feminino
Imunofluorescência
Seres Humanos
Masculino
Microscopia Confocal
Meia-Idade
Porencefalia/metabolismo
Glândulas Sebáceas/metabolismo
Glândulas Sebáceas/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (COL4A1 protein, human); 0 (Collagen Type IV)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151222
[St] Status:MEDLINE
[do] DOI:10.1007/s10072-015-2435-3


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[PMID]:26545857
[Au] Autor:Hino-Fukuyo N; Togashi N; Takahashi R; Saito J; Inui T; Endo W; Sato R; Okubo Y; Saitsu H; Haginoya K
[Ad] Endereço:Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
[Ti] Título:Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.
[So] Source:Pediatr Neurol;54:39-42.e1, 2016 Jan.
[Is] ISSN:1873-5150
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011. METHODS: We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. These covered all clinics related to pediatric neurology and orthopedic surgery in Miyagi prefecture. In the inquiry, diagnostic criteria for porencephaly, schizencephaly, and hydranencephaly were described and representative images of magnetic resonance imaging were shown. We obtained an 82% (27 of 33) response rate from the divisions of pediatrics, a 100% (3 of 3) response rate from the neonatal intensive care units, and a 68% (17 of 25) response rate from orthopedic surgery clinics. The magnetic resonance imaging scans of each patient were retrieved and inspected. RESULTS: Five, one, and two individuals developed porencephaly, schizencephaly, and hydranencephaly, respectively. The estimated incidence rates of porencephaly, schizencephaly, and hydranencephaly were 5.2 (95% confidence interval [CI], 0.6-9.8), 1.0 (95% CI, 0.0-3.1), and 2.1 (95% CI, 0.0-5.0) per 100,000 live births, respectively. CONCLUSIONS: The prevalence rates of porencephaly, schizencephaly, and hydranencephaly at birth reported herein are compatible with results reported previously in the United States and European countries. The overall prevalence rate of these three diseases was 8.3 (95% CI, 2.6-14.1) per 100,000 live births.
[Mh] Termos MeSH primário: Hidranencefalia/epidemiologia
Porencefalia/epidemiologia
Esquizencefalia/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Encéfalo/patologia
Feminino
Seres Humanos
Hidranencefalia/patologia
Incidência
Japão/epidemiologia
Imagem por Ressonância Magnética
Masculino
Porencefalia/patologia
Prevalência
Esquizencefalia/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151226
[Lr] Data última revisão:
151226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151108
[St] Status:MEDLINE


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[PMID]:25786357
[Au] Autor:Hori A; Hanazono K; Miyoshi K; Nakade T
[Ad] Endereço:Department of Small Animal Clinical Sciences, School of Veterinary Medicine, Rakuno Gakuen University, 582-1 Bunkyoudai-Midorimachi, Ebetsu, Hokkaido 069-8501, Japan.
[Ti] Título:Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy.
[So] Source:J Vet Med Sci;77(7):889-92, 2015 Jul.
[Is] ISSN:1347-7439
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Porencephaly is the congenital cerebral defect and a rare malformation and described few MRI reports in veterinary medicine. MRI features of porencephaly are recognized the coexistence with the unilateral/bilateral hippocampal atrophy, caused by the seizure symptoms in human medicine. We studied 2 dogs and 1 cat with congenital porencephaly to characterize the clinical signs and MRI, and to discuss the associated MRI with hippocampal atrophy. The main clinical sign was the seizure symptoms, and all had hippocampal atrophy at the lesion side or the larger defect side. There is association between hippocampal atrophy or the cyst volume and the severe of clinical signs, and it is suggested that porencephaly coexists with hippocampal atrophy as well as humans in this study.
[Mh] Termos MeSH primário: Doenças do Gato/diagnóstico
Doenças do Cão/diagnóstico
Hipocampo/patologia
Porencefalia/veterinária
[Mh] Termos MeSH secundário: Animais
Atrofia
Doenças do Gato/patologia
Gatos
Doenças do Cão/patologia
Cães
Feminino
Imagem por Ressonância Magnética/veterinária
Masculino
Porencefalia/diagnóstico
Porencefalia/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1606
[Cu] Atualização por classe:161018
[Lr] Data última revisão:
161018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150320
[St] Status:MEDLINE
[do] DOI:10.1292/jvms.14-0359


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[PMID]:25753534
[Au] Autor:Jeanne M; Jorgensen J; Gould DB
[Ad] Endereço:From Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California, San Francisco (UCSF).
[Ti] Título:Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
[So] Source:Circulation;131(18):1555-65, 2015 May 05.
[Is] ISSN:1524-4539
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Collagen type IV alpha1 (COL4A1) and alpha2 (COL4A2) form heterotrimers critical for vascular basement membrane stability and function. Patients with COL4A1 or COL4A2 mutations suffer from diverse cerebrovascular diseases, including cerebral microbleeds, porencephaly, and fatal intracerebral hemorrhage (ICH). However, the pathogenic mechanisms remain unknown, and there is a lack of effective treatment. METHODS AND RESULTS: Using Col4a1 and Col4a2 mutant mouse models, we investigated the genetic complexity and cellular mechanisms underlying the disease. We found that Col4a1 mutations cause abnormal vascular development, which triggers small-vessel disease, recurrent hemorrhagic strokes, and age-related macroangiopathy. We showed that allelic heterogeneity, genetic context, and environmental factors such as intense exercise or anticoagulant medication modulated disease severity and contributed to phenotypic heterogeneity. We found that intracellular accumulation of mutant collagen in vascular endothelial cells and pericytes was a key triggering factor of ICH. Finally, we showed that treatment of mutant mice with a US Food and Drug Administration-approved chemical chaperone resulted in a decreased collagen intracellular accumulation and a significant reduction in ICH severity. CONCLUSIONS: Our data are the first to show therapeutic prevention in vivo of ICH resulting from Col4a1 mutation and imply that a mechanism-based therapy promoting protein folding might also prevent ICH in patients with COL4A1 and COL4A2 mutations.
[Mh] Termos MeSH primário: Hemorragia Cerebral/prevenção & controle
Colágeno Tipo IV/genética
Heterogeneidade Genética
Fragmentos de Peptídeos/genética
[Mh] Termos MeSH secundário: Animais
Vasos Sanguíneos/anormalidades
Vasos Sanguíneos/embriologia
Barreira Hematoencefálica
Encéfalo/irrigação sanguínea
Encéfalo/embriologia
Hemorragia Cerebral/genética
Colágeno/metabolismo
Colágeno Tipo IV/deficiência
Colágeno Tipo IV/fisiologia
Modelos Animais de Doenças
Células Endoteliais/metabolismo
Feminino
Interação Gene-Ambiente
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Mutantes
Mutação
Neovascularização Fisiológica/genética
Fragmentos de Peptídeos/deficiência
Fragmentos de Peptídeos/fisiologia
Pericitos/metabolismo
Fenótipo
Condicionamento Físico Animal
Porencefalia/genética
Vasos Retinianos/embriologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Col4a2 protein, mouse); 0 (Collagen Type IV); 0 (Peptide Fragments); 9007-34-5 (Collagen)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150311
[St] Status:MEDLINE
[do] DOI:10.1161/CIRCULATIONAHA.114.013395


  9 / 32 MEDLINE  
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[PMID]:25719457
[Au] Autor:Meuwissen ME; Halley DJ; Smit LS; Lequin MH; Cobben JM; de Coo R; van Harssel J; Sallevelt S; Woldringh G; van der Knaap MS; de Vries LS; Mancini GM
[Ad] Endereço:Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
[Ti] Título:The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
[So] Source:Genet Med;17(11):843-53, 2015 Nov.
[Is] ISSN:1530-0366
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "COL4A1 mutation-related disorders." Genetic counseling is challenging because of broad phenotypic variation and reduced penetrance. At the Erasmus University Medical Center, diagnostic DNA analysis of both COL4A1 and COL4A2 in 183 index patients was performed between 2005 and 2013. In total, 21 COL4A1 and 3 COL4A2 mutations were identified, mostly in children with porencephaly or other patterns of parenchymal hemorrhage, with a high de novo mutation rate of 40% (10/24). The observations in 13 novel families harboring either COL4A1 or COL4A2 mutations prompted us to review the clinical spectrum. We observed recognizable phenotypic patterns and propose a screening protocol at diagnosis. Our data underscore the importance of COL4A1 and COL4A2 mutations in cerebrovascular disease, also in sporadic patients. Follow-up data on symptomatic and asymptomatic mutation carriers are needed for prognosis and appropriate surveillance.
[Mh] Termos MeSH primário: Colágeno Tipo IV/genética
Estudos de Associação Genética
Mutação
Fenótipo
[Mh] Termos MeSH secundário: Alelos
Segmento Anterior do Olho/anormalidades
Encéfalo/patologia
Hemorragia Cerebral/diagnóstico
Hemorragia Cerebral/genética
Estudos de Coortes
Anormalidades do Olho/diagnóstico
Anormalidades do Olho/genética
Família
Ordem dos Genes
Loci Gênicos
Genótipo
Seres Humanos
Leucomalácia Periventricular/diagnóstico
Leucomalácia Periventricular/genética
Imagem por Ressonância Magnética/métodos
Linhagem
Porencefalia/diagnóstico
Porencefalia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (COL4A1 protein, human); 0 (COL4A2 protein, human); 0 (Collagen Type IV)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151125
[Lr] Data última revisão:
151125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150227
[St] Status:MEDLINE
[do] DOI:10.1038/gim.2014.210


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[PMID]:25716048
[Au] Autor:Williams T; Wilkinson AG; Kandasamy J; Cooper S; Boardman JP
[Ad] Endereço:Simpson Centre for Reproductive Health, Royal Infirmary of Edinburgh, Edinburgh, UK.
[Ti] Título:Antenatal diagnosis of intracranial haemorrhage and porencephalic cyst.
[So] Source:BMJ Case Rep;2015, 2015 Feb 25.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Hemorragias Intracranianas/complicações
Hemorragias Intracranianas/diagnóstico
Imagem por Ressonância Magnética
Porencefalia/complicações
Porencefalia/diagnóstico
Diagnóstico Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Encéfalo/patologia
Encéfalo/cirurgia
Cistos
Feminino
Seres Humanos
Recém-Nascido
Porencefalia/cirurgia
Gravidez
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1601
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150227
[St] Status:MEDLINE



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