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[PMID]:28134568
[Au] Autor:Williams F; Griffiths PD
[Ti] Título:In utero MR imaging in fetuses at high risk of lissencephaly.
[So] Source:Br J Radiol;90(1072):20160902, 2017 Apr.
[Is] ISSN:1748-880X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Lissencephaly is a rare disorder of cortical developmental, which usually carries increased risk of recurrence in future pregnancies. In this prospective observational study, we wished to test the hypothesis that sulcation patterns can be used to diagnose lissencephaly successfully on in utero MR (iuMR) imaging in the third-trimester but not in the late second-trimester fetus. METHODS: Pregnant females were recruited into this study if they had an increased risk of fetal lissencephaly based on a fetus or child with lissencephaly in an earlier pregnancy. All females were offered serial iuMR examinations at one centre and are reported whether they had at least two examinations. The overall recurrence rate of lissencephaly was recorded along with the sulcation patterns of non-affected fetuses. RESULTS: 19 females were recruited with 23 pregnancies. In 3/23 (13%) fetuses, lissencephaly was diagnosed on iuMR and not detected on ultrasonography. In two cases, the diagnosis of lissencephaly was made on second-trimester iuMR imaging-with certainty in one and described as "possible" in the other. Confident diagnoses of lissencephaly were made by 28-week gestation in all three cases. Four fetuses, ultimately shown not to have lissencephaly, were judged to have minor sulcation delay on second-trimester imaging but became gestational age appropriate in the third trimester. CONCLUSION: iuMR imaging can identify fetal lissencephaly between 20 and 24 weeks, but false positives should be expected, particularly in the second trimester, and follow-up imaging later in pregnancy may be required. Advances in knowledge: It is possible to detect fetal lissencephaly between 20- and 24-week gestational age; but, it is considerably easier in the third trimester. As a result, if a fetus has an increased risk of lissencephaly on the basis of family history, it may be necessary to do serial iuMR studies to confirm normality (or abnormality) of the fetal brain.
[Mh] Termos MeSH primário: Doenças Fetais/diagnóstico por imagem
Lisencefalia/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
Diagnóstico Pré-Natal/métodos
[Mh] Termos MeSH secundário: Córtex Cerebral/diagnóstico por imagem
Córtex Cerebral/embriologia
Córtex Cerebral/patologia
Feminino
Doenças Fetais/patologia
Seres Humanos
Lisencefalia/patologia
Gravidez
Estudos Prospectivos
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170924
[Lr] Data última revisão:
170924
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170131
[St] Status:MEDLINE
[do] DOI:10.1259/bjr.20160902


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[PMID]:28111201
[Au] Autor:Bershteyn M; Nowakowski TJ; Pollen AA; Di Lullo E; Nene A; Wynshaw-Boris A; Kriegstein AR
[Ad] Endereço:Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: mbershteyn@gmail.com.
[Ti] Título:Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia.
[So] Source:Cell Stem Cell;20(4):435-449.e4, 2017 Apr 06.
[Is] ISSN:1875-9777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Classical lissencephaly is a genetic neurological disorder associated with mental retardation and intractable epilepsy, and Miller-Dieker syndrome (MDS) is the most severe form of the disease. In this study, to investigate the effects of MDS on human progenitor subtypes that control neuronal output and influence brain topology, we analyzed cerebral organoids derived from control and MDS-induced pluripotent stem cells (iPSCs) using time-lapse imaging, immunostaining, and single-cell RNA sequencing. We saw a cell migration defect that was rescued when we corrected the MDS causative chromosomal deletion and severe apoptosis of the founder neuroepithelial stem cells, accompanied by increased horizontal cell divisions. We also identified a mitotic defect in outer radial glia, a progenitor subtype that is largely absent from lissencephalic rodents but critical for human neocortical expansion. Our study, therefore, deepens our understanding of MDS cellular pathogenesis and highlights the broad utility of cerebral organoids for modeling human neurodevelopmental disorders.
[Mh] Termos MeSH primário: Cérebro/patologia
Células-Tronco Pluripotentes Induzidas/patologia
Lisencefalia/patologia
Mitose
Neuroglia/patologia
Organoides/patologia
[Mh] Termos MeSH secundário: Adulto
Apoptose
Movimento Celular
Duplicação Cromossômica
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/patologia
Citocinese
Epitélio/patologia
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Meia-Idade
Neurônios/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE


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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]:27868373
[Au] Autor:Cianci P; Fazio G; Casagranda S; Spinelli M; Rizzari C; Cazzaniga G; Selicorni A
[Ad] Endereço:Clinical Genetic Pediatric Unit, Pediatric Department of MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
[Ti] Título:Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
[So] Source:Am J Med Genet A;173(2):546-549, 2017 Feb.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic ß- and γ-acting-encoding genes ACTB (7p22.1) and ACTG1 (17q25.3) in patients carrying a clinical diagnosis of BWSM, FA, or CCF has provided further evidence that these clinical conditions do indeed belong to the same entity at the molecular level. Two cases of BWCFF patients presenting with malignancies (i.e., acute lymphocytic leukemia and cutaneous lymphoma) have been published thus far. Here, we report a 21-year-old female with molecularly confirmed FA, who developed acute myeloid leukemia (AML). The present finding may indicate that actinopathies could be cancer-predisposing syndromes although small numbers and publication bias should be taken into account. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Anormalidades Craniofaciais/complicações
Epilepsia/complicações
Deficiência Intelectual/complicações
Leucemia Mieloide Aguda/diagnóstico
Leucemia Mieloide Aguda/etiologia
Lisencefalia/complicações
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/genética
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
Exame de Medula Óssea
Encéfalo/anormalidades
Hibridização Genômica Comparativa
Anormalidades Craniofaciais/diagnóstico
Anormalidades Craniofaciais/genética
Eletrocardiografia
Epilepsia/diagnóstico
Epilepsia/genética
Facies
Feminino
Testes Genéticos
Seres Humanos
Deficiência Intelectual/diagnóstico
Deficiência Intelectual/genética
Leucemia Mieloide Aguda/tratamento farmacológico
Lisencefalia/diagnóstico
Lisencefalia/genética
Imagem por Ressonância Magnética
Mutação
Translocação Genética
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161122
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38057


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[PMID]:27726416
[Au] Autor:Strafela P; Vizjak A; Mraz J; Mlakar J; Pizem J; Tul N; Zupanc TA; Popovic M
[Ti] Título:Zika Virus-Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System.
[So] Source:Arch Pathol Lab Med;141(1):73-81, 2017 Jan.
[Is] ISSN:1543-2165
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. OBJECTIVE: -To provide a comprehensive description of the neuropathologic features of congenital Zika virus infection. DESIGN: -Autopsy evaluation of the brain from a fetus of 32 weeks and 6 days of gestation, with a prenatal diagnosis of microcephaly associated with polymerase chain reaction-confirmed, fetal, Zika virus infection. RESULTS: -Multiple severe pathology findings were present. These included lissencephaly, except for the occipital lobes, where some pachygyria was observed. Also present was reduction and thinning of white matter, ventriculomegaly of the lateral ventricles, and coalescent calcifications in the cortical-subcortical white matter border associated with glioneuronal outbursting into the subarachnoid space above and heterotopias below. There were small, scattered calcifications in the basal ganglia, with fewer in the white matter and germinal matrix, and none in the cerebellum and brainstem. The cerebellum and pontine base were atrophic because of Wallerian degeneration or maldevelopment of descending tracts and pontocerebellar connections. CONCLUSION: -Our findings are in agreement with neuroimaging of Zika virus-associated fetal and infant micrencephalic brains and, to some extent, with neuroimaging of other intrauterine infections causing microcephaly.
[Mh] Termos MeSH primário: Sistema Nervoso Central/patologia
Doenças Fetais/patologia
Microcefalia/patologia
Infecção pelo Zika virus/patologia
Zika virus/fisiologia
[Mh] Termos MeSH secundário: Aborto Eugênico
Adulto
Autopsia
Encéfalo/embriologia
Encéfalo/patologia
Encéfalo/virologia
Sistema Nervoso Central/embriologia
Sistema Nervoso Central/virologia
Evolução Fatal
Feminino
Morte Fetal
Doenças Fetais/diagnóstico por imagem
Doenças Fetais/virologia
Idade Gestacional
Interações Hospedeiro-Patógeno
Seres Humanos
Hidrocefalia/induzido quimicamente
Hidrocefalia/diagnóstico por imagem
Hidrocefalia/patologia
Recém-Nascido
Lisencefalia/diagnóstico por imagem
Lisencefalia/patologia
Lisencefalia/virologia
Imagem por Ressonância Magnética/métodos
Masculino
Microcefalia/diagnóstico por imagem
Microcefalia/virologia
Gravidez
Infecção pelo Zika virus/diagnóstico por imagem
Infecção pelo Zika virus/virologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161012
[St] Status:MEDLINE
[do] DOI:10.5858/arpa.2016-0341-SA


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Szejnfeld, Jacob
Tanuri, Amilcar
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[PMID]:27695855
[Au] Autor:Melo AS; Aguiar RS; Amorim MM; Arruda MB; Melo FO; Ribeiro ST; Batista AG; Ferreira T; Dos Santos MP; Sampaio VV; Moura SR; Rabello LP; Gonzaga CE; Malinger G; Ximenes R; de Oliveira-Szejnfeld PS; Tovar-Moll F; Chimelli L; Silveira PP; Delvechio R; Higa L; Campanati L; Nogueira RM; Filippis AM; Szejnfeld J; Voloch CM; Ferreira OC; Brindeiro RM; Tanuri A
[Ad] Endereço:Instituto de Pesquisa Professor Amorim Neto (IPESQ), Campina Grande, Paraíba, Brazil2Instituto de Saúde Elpidio de Almeida, Campina Grande, Paraíba, Brazil3Faculdade de Ciências Médicas de Campina Grande, Campina Grande, Paraíba, Brazil4Hospital Municipal Pedro I, Campina Grande, Paraíba, Brazil.
[Ti] Título:Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.
[So] Source:JAMA Neurol;73(12):1407-1416, 2016 Dec 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. Design, Setting, and Participants: We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. Main Outcomes and Measures: Description of the major lesions caused by ZIKV congenital infection. Results: Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and brain). Phylogenetic analyses showed an intrahost virus variation with some polymorphisms in envelope genes associated with different tissues. Conclusions and Relevance: Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. The term congenital Zika syndrome is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this congenital malformation disorder.
[Mh] Termos MeSH primário: Artrogripose/etiologia
Hidrocefalia/etiologia
Malformações do Sistema Nervoso/etiologia
Complicações Infecciosas na Gravidez
Infecção pelo Zika virus/complicações
Zika virus
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/etiologia
Brasil
Cerebelo/patologia
Cérebro/patologia
Feminino
Seguimentos
Seres Humanos
Lactente
Morte do Lactente
Recém-Nascido
Lisencefalia/etiologia
Masculino
Microcefalia/etiologia
Morte Perinatal
Gravidez
Zika virus/genética
Zika virus/isolamento & purificação
Zika virus/patogenicidade
Infecção pelo Zika virus/congênito
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170529
[Lr] Data última revisão:
170529
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2016.3720


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[PMID]:27480277
[Au] Autor:Shaheen R; Al-Salam Z; El-Hattab AW; Alkuraya FS
[Ad] Endereço:Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[Ti] Título:The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.
[So] Source:Am J Med Genet A;170(12):3222-3226, 2016 Dec.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic syndromes. The reported Saudi Arabian patients have severe primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and renal agenesis. The same homozygous CTU2 mutation was identified in all patients. Although the nucleotide change c.873G>A does not change the codon, it completely abolishes a consensus donor site resulting in frameshift and premature truncation ((NM_001012762.1): p.Thr247Alafs*21). In this report, we describe two cousins from United Arab Emirates whose clinical presentation was consistent with this recently described syndrome and both were found to have the same mutation on the same haplotypic background. We propose the acronym DREAM-PL to highlight the main clinical features of this syndrome, which we believe is underdiagnosed by exome sequencing based on the high carrier frequency, most likely due to the apparently synonymous nature of the mutation. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Anormalidades Congênitas/genética
Facies
Estudos de Associação Genética
Nefropatias/congênito
Rim/anormalidades
Lisencefalia/genética
Microcefalia/genética
Polidactilia/genética
[Mh] Termos MeSH secundário: Encéfalo/anormalidades
Anormalidades Congênitas/diagnóstico
Consanguinidade
Eletroencefalografia
Feminino
Seres Humanos
Lactente
Nefropatias/diagnóstico
Nefropatias/genética
Lisencefalia/diagnóstico
Imagem por Ressonância Magnética
Masculino
Microcefalia/diagnóstico
Mutação
Exame Físico
Polidactilia/diagnóstico
Diagnóstico Pré-Natal
tRNA Metiltransferases/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.1.1.- (tRNA Methyltransferases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160803
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37877


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[PMID]:27431206
[Au] Autor:Bamba Y; Shofuda T; Kato M; Pooh RK; Tateishi Y; Takanashi J; Utsunomiya H; Sumida M; Kanematsu D; Suemizu H; Higuchi Y; Akamatsu W; Gallagher D; Miller FD; Yamasaki M; Kanemura Y; Okano H
[Ad] Endereço:Department of Physiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
[Ti] Título:In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
[So] Source:Mol Brain;9(1):70, 2016 07 19.
[Is] ISSN:1756-6606
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Lissencephaly, or smooth brain, is a severe congenital brain malformation that is thought to be associated with impaired neuronal migration during corticogenesis. However, the exact etiology of lissencephaly in humans remains unknown. Research on congenital diseases is limited by the shortage of clinically derived resources, especially for rare pediatric diseases. The research on lissencephaly is further limited because gyration in humans is more evolved than that in model animals such as mice. To overcome these limitations, we generated induced pluripotent stem cells (iPSCs) from the umbilical cord and peripheral blood of two lissencephaly patients with different clinical severities carrying alpha tubulin (TUBA1A) missense mutations (Patient A, p.N329S; Patient B, p.R264C). RESULTS: Neural progenitor cells were generated from these iPSCs (iPSC-NPCs) using SMAD signaling inhibitors. These iPSC-NPCs expressed TUBA1A at much higher levels than undifferentiated iPSCs and, like fetal NPCs, readily differentiated into neurons. Using these lissencephaly iPSC-NPCs, we showed that the neurons derived from the iPSCs obtained from Patient A but not those obtained from Patient B showed abnormal neurite extension, which correlated with the pathological severity in the brains of the patients. CONCLUSION: We established iPSCs derived from lissencephaly patients and successfully modeled one aspect of the pathogenesis of lissencephaly in vitro using iPSC-NPCs and iPSC-derived neurons. The iPSCs from patients with brain malformation diseases helped us understand the mechanism underlying rare diseases and human corticogenesis without the use of postmortem brains.
[Mh] Termos MeSH primário: Células-Tronco Pluripotentes Induzidas/patologia
Lisencefalia/genética
Mutação de Sentido Incorreto/genética
Neuritos/metabolismo
Tubulina (Proteína)/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Linhagem Celular
Pré-Escolar
Corantes Fluorescentes/metabolismo
Seres Humanos
Células-Tronco Pluripotentes Induzidas/metabolismo
Imagem por Ressonância Magnética
Masculino
Células-Tronco Neurais/metabolismo
Neuroglia/metabolismo
Proteínas Smad/antagonistas & inibidores
Proteínas Smad/metabolismo
Esferoides Celulares/citologia
Esferoides Celulares/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fluorescent Dyes); 0 (Smad Proteins); 0 (TUBA1A protein, human); 0 (Tubulin)
[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:160720
[St] Status:MEDLINE
[do] DOI:10.1186/s13041-016-0246-y


  9 / 172 MEDLINE  
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[PMID]:27316349
[Au] Autor:Werner H; Sodré D; Hygino C; Guedes B; Fazecas T; Nogueira R; Daltro P; Tonni G; Lopes J; Araujo Júnior E
[Ad] Endereço:Department of Radiology, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, RJ, Brazil.
[Ti] Título:First-trimester intrauterine Zika virus infection and brain pathology: prenatal and postnatal neuroimaging findings.
[So] Source:Prenat Diagn;36(8):785-9, 2016 Aug.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Encefalopatias/diagnóstico por imagem
Encéfalo/diagnóstico por imagem
Calcinose/diagnóstico por imagem
Hidrocefalia/diagnóstico por imagem
Ventrículos Laterais/anormalidades
Lisencefalia/diagnóstico por imagem
Microcefalia/diagnóstico por imagem
Complicações Infecciosas na Gravidez
Infecção pelo Zika virus/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Imagem Tridimensional
Recém-Nascido
Ventrículos Laterais/diagnóstico por imagem
Imagem por Ressonância Magnética
Masculino
Neuroimagem
Gravidez
Primeiro Trimestre da Gravidez
Impressão Tridimensional
Tomografia Computadorizada por Raios X
Ultrassonografia Pré-Natal
Infecção pelo Zika virus/congênito
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:160619
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4860


  10 / 172 MEDLINE  
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[PMID]:27021891
[Au] Autor:Fraser AR; le Chevoir MA; Long SN
[Ad] Endereço:Translational Research and Animal Clinical Trial Study (TRACTS) Group, Section of Veterinary Neurology and Neurosurgery, Faculty of Veterinary and Agricultural Sciences, The University of Melbourne, 250 Princes Highway, Werribee, Victoria, 3030, Australia. anne.fraser@unimelb.edu.au.
[Ti] Título:Lissencephaly in an adult Australian Kelpie.
[So] Source:Aust Vet J;94(4):107-10, 2016 Apr.
[Is] ISSN:1751-0813
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:CASE REPORT: A 6-year-old neutered male Australian Kelpie presented with a 2-year history of seizures. Neurological examination was consistent with a generalised prosencephalic lesion. Serum biochemical testing was performed in addition to magnetic resonance imaging of the brain and cerebrospinal fluid analysis. Magnetic resonance imaging revealed a reduction in the number of sulci and gyri in addition to cortical thickening, resulting in a diagnosis of lissencephaly. The dog was treated with anticonvulsants and follow-up information obtained from the referring veterinarian 11 months after diagnosis indicated that the dog had good seizure control. CONCLUSION: This is the first report of lissencephaly in the Australian Kelpie and would suggest that some dogs with the condition can be managed with long-term anticonvulsant medication.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Doenças do Cão/patologia
Lisencefalia/veterinária
Fenobarbital/uso terapêutico
Convulsões/veterinária
[Mh] Termos MeSH secundário: Animais
Córtex Cerebral/patologia
Doenças do Cão/tratamento farmacológico
Doenças do Cão/etiologia
Cães
Lisencefalia/complicações
Lisencefalia/tratamento farmacológico
Lisencefalia/patologia
Imagem por Ressonância Magnética/veterinária
Masculino
Preparações de Plantas/uso terapêutico
Convulsões/tratamento farmacológico
Convulsões/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Plant Preparations); YQE403BP4D (Phenobarbital)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170103
[Lr] Data última revisão:
170103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160330
[St] Status:MEDLINE
[do] DOI:10.1111/avj.12423



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