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  1 / 1303 MEDLINE  
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[PMID]:29036220
[Au] Autor:Sanchez JC; Kwan EX; Pohl TJ; Amemiya HM; Raghuraman MK; Brewer BJ
[Ad] Endereço:Molecular and Cellular Biology Program, University of Washington, Seattle, WA, United States of America.
[Ti] Título:Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.
[So] Source:PLoS Genet;13(10):e1007041, 2017 Oct.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional replication initiation genes have joined the list of causative mutations for MGS (Geminin and CDC45). The identity of the causative MGS genetic variants strongly suggests that some aspect of replication is amiss in MGS patients; however, little evidence has been obtained regarding what aspect of chromosome replication is faulty. Since the site of one of the missense mutations in the human ORC4 alleles is conserved between humans and yeast, we sought to determine in what way this single amino acid change affects the process of chromosome replication, by introducing the comparable mutation into yeast (orc4Y232C). We find that yeast cells with the orc4Y232C allele have a prolonged S-phase, due to compromised replication initiation at the ribosomal DNA (rDNA) locus located on chromosome XII. The inability to initiate replication at the rDNA locus results in chromosome breakage and a severely reduced rDNA copy number in the survivors, presumably helping to ensure complete replication of chromosome XII. Although reducing rDNA copy number may help ensure complete chromosome replication, orc4Y232C cells struggle to meet the high demand for ribosomal RNA synthesis. This finding provides additional evidence linking two essential cellular pathways-DNA replication and ribosome biogenesis.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/genética
Microtia Congênita/genética
Replicação do DNA/genética
Transtornos do Crescimento/genética
Micrognatismo/genética
Complexo de Reconhecimento de Origem/genética
Patela/anormalidades
Proteínas de Saccharomyces cerevisiae/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos/genética
Quebra Cromossômica
DNA Ribossômico/genética
Seres Humanos
Mutação de Sentido Incorreto
Patela/fisiologia
RNA Ribossômico
Saccharomyces cerevisiae/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (DNA, Ribosomal); 0 (ORC4 protein, S cerevisiae); 0 (ORC4 protein, human); 0 (Origin Recognition Complex); 0 (RNA, Ribosomal); 0 (Saccharomyces cerevisiae Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171017
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1007041


  2 / 1303 MEDLINE  
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[PMID]:28797104
[Au] Autor:Zhang Y; Wei QS; Ding WB; Zhang LL; Wang HC; Zhu YJ; He W; Chai YN; Liu YW
[Ad] Endereço:Medical Centre of Hip, Luoyang Orthopaedic-Traumatological Hospital (Orthopaedic Hospital of Henan Province), Luoyang, China.
[Ti] Título:Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2.
[So] Source:PLoS One;12(8):e0182678, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Trauma-induced osteonecrosis of the femoral head (TIONFH) is a major complication of femoral neck fractures. Degeneration and necrosis of subchondral bone can cause collapse, which results in hip joint dysfunction in patients. The destruction of bone metabolism homeostasis is an important factor for osteonecrosis. MicroRNAs (miRNAs) have an important role in regulating osteogenic differentiation, but the mechanisms underlying abnormal bone metabolism of TIONFH are poorly understood. In this study, we screened specific miRNAs in TIONFH by microarray and further explored the mechanism of osteogenic differentiation. DESIGN: Blood samples from patients with TIONFH and patients without necrosis after trauma were compared by microarray, and bone collapse of necrotic bone tissue was evaluated by micro-CT and immunohistochemistry. To confirm the relationship between miRNA and osteogenic differentiation, we conducted cell culture experiments. We found that many miRNAs were significantly different, including miR-93-5p; the increase in this miRNA was verified by Q-PCR. Comparison of the tissue samples showed that miR-93-5p expression increased, and alkaline phosphatase (ALP) and osteopontin (OPN) levels decreased, suggesting miR-93-5p may be involved in osteogenic differentiation. Further bioinformatics analysis indicated that miR-93-5p can target bone morphogenetic protein 2 (BMP-2). A luciferase gene reporter assay was performed to confirm these findings. By simulating and/or inhibiting miR-93-5p expression in human bone marrow mesenchymal stem cells, we confirmed that osteogenic differentiation-related indictors, including BMP-2, Osterix, Runt-related transcription factor, ALP and OPN, were decreased by miR-93-5p. CONCLUSION: Our study showed that increased miR-93-5p in TIONFH patients inhibited osteogenic differentiation, which may be associated with BMP-2 reduction. Therefore, miR-93-5p may be a potential target for prevention of TIONFH.
[Mh] Termos MeSH primário: Proteína Morfogenética Óssea 2/genética
Fraturas do Colo Femoral/metabolismo
Necrose da Cabeça do Fêmur/metabolismo
MicroRNAs/fisiologia
Osteogênese
[Mh] Termos MeSH secundário: Anormalidades Múltiplas
Adulto
Sequência de Bases
Sítios de Ligação
Proteína Morfogenética Óssea 2/metabolismo
Feminino
Fraturas do Colo Femoral/complicações
Fraturas do Colo Femoral/patologia
Necrose da Cabeça do Fêmur/etiologia
Necrose da Cabeça do Fêmur/patologia
Células HEK293
Seres Humanos
Deformidades Congênitas dos Membros
Masculino
Disostose Mandibulofacial
Micrognatismo
Meia-Idade
Osteoblastos/fisiologia
Interferência de RNA
Análise de Sequência de DNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BMP2 protein, human); 0 (Bone Morphogenetic Protein 2); 0 (MIRN93 microRNA, human); 0 (MicroRNAs)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170811
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0182678


  3 / 1303 MEDLINE  
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[PMID]:28688869
[Au] Autor:Wu CC; Sakahara D; Imai K
[Ad] Endereço:Craniofacial Center, Division of Plastic and Reconstructive Surgery, Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taiwan.
[Ti] Título:Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.
[So] Source:J Plast Reconstr Aesthet Surg;70(10):1449-1456, 2017 Oct.
[Is] ISSN:1878-0539
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. However, mandibular distraction osteogenesis has some complications such as relapse, teeth injury, infection, and injury of the temporomandibular joints (TMJs). In this study, the author reported two patients with Nager syndrome who suffered from ankylosis of TMJs after mandibular distraction osteogenesis. In addition, a comprehensive literature review of post-distraction ankylosis of TMJs in patients with Nager syndrome was performed. Few studies demonstrated the condition of TMJs after mandibular distraction osteogenesis, and three studies were identified from the review. One study reported ankylosis of bilateral coronoid processes, in which coronoidectomies were necessary. Another study reported the use of prostheses to replace the ankylosed joints in a patient who had undergone many surgeries of the joints, such as gap arthroplasties, reconstructions with costochondral grafts, etc. One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis. It seems that multiple factors are related to the ankylosis of TMJs after mandibular distraction osteogenesis in patients with Nager syndrome. Prevention of post-distraction ankylosis of the joints is important because the treatment is difficult and not always effective. We should conduct more studies about protection of the joints during mandibular distraction in the future.
[Mh] Termos MeSH primário: Disostose Mandibulofacial/complicações
Micrognatismo
Osteogênese por Distração/efeitos adversos
Articulação Temporomandibular
[Mh] Termos MeSH secundário: Adolescente
Anquilose/etiologia
Criança
Feminino
Seres Humanos
Masculino
Mandíbula/cirurgia
Micrognatismo/etiologia
Micrognatismo/cirurgia
Osteogênese por Distração/métodos
Reoperação/métodos
Articulação Temporomandibular/diagnóstico por imagem
Articulação Temporomandibular/patologia
Articulação Temporomandibular/fisiopatologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170710
[St] Status:MEDLINE


  4 / 1303 MEDLINE  
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[PMID]:28608987
[Au] Autor:Errichiello E; Mustafa N; Vetro A; Notarangelo LD; de Jonge H; Rinaldi B; Vergani D; Giglio SR; Morbini P; Zuffardi O
[Ad] Endereço:Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[Ti] Título:SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
[So] Source:J Pathol;243(1):9-15, 2017 Sep.
[Is] ISSN:1096-9896
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole-exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years. Interestingly, our patient also showed congenital microphthalmia, which has never previously been reported in CSS patients. We detected a de novo germline heterozygous nonsense mutation in exon 19 of SMARCA4 (c.2935C > T;p.Arg979*), and a somatic frameshift mutation in exon 6 (c.1236_1236delC;p.Gln413Argfs*88), causing complete loss of SMARCA4 immunostaining in the tumour. The immunohistochemical findings are supported by the observation that the c.2935C > T mutant transcript was detected by reverse transcription polymerase chain reaction at a much lower level than the wild-type allele in whole blood and the lymphoblastoid cell line of the proband, confirming nonsense-mediated mRNA decay. Accordingly, immunoblotting demonstrated that there was approximately half the amount of SMARCA4 protein in the proband's cells as in controls. This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. In addition, our case supports the dual role of chromatin remodellers in developmental disorders and cancer, as well as the involvement of SMARCA4 in microphthalmia, confirming previous findings in mouse models and the DECIPHER database. Finally, we speculate that mild CSS might be under-recognized in a proportion of SCCOHT patients harbouring SMARCA4 mutations. © 2017 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Biomarcadores Tumorais/genética
Carcinoma de Células Pequenas/genética
Códon sem Sentido
DNA Helicases/genética
Face/anormalidades
Mutação da Fase de Leitura
Deformidades Congênitas da Mão/genética
Hipercalcemia/genética
Deficiência Intelectual/genética
Micrognatismo/genética
Microftalmia/genética
Pescoço/anormalidades
Proteínas Nucleares/genética
Neoplasias Ovarianas/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/metabolismo
Adolescente
Biomarcadores Tumorais/análise
Western Blotting
Carcinoma de Células Pequenas/química
Carcinoma de Células Pequenas/diagnóstico
DNA Helicases/análise
Análise Mutacional de DNA
Feminino
Predisposição Genética para Doença
Deformidades Congênitas da Mão/diagnóstico
Deformidades Congênitas da Mão/metabolismo
Heterozigoto
Seres Humanos
Hipercalcemia/diagnóstico
Hipercalcemia/metabolismo
Imuno-Histoquímica
Deficiência Intelectual/diagnóstico
Deficiência Intelectual/metabolismo
Masculino
Micrognatismo/diagnóstico
Micrognatismo/metabolismo
Microftalmia/diagnóstico
Microftalmia/metabolismo
Meia-Idade
Proteínas Nucleares/análise
Neoplasias Ovarianas/química
Neoplasias Ovarianas/diagnóstico
Linhagem
Fenótipo
RNA Mensageiro/genética
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Fatores de Transcrição/análise
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Codon, Nonsense); 0 (Nuclear Proteins); 0 (RNA, Messenger); 0 (Transcription Factors); EC 3.6.1.- (SMARCA4 protein, human); EC 3.6.4.- (DNA Helicases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170614
[St] Status:MEDLINE
[do] DOI:10.1002/path.4926


  5 / 1303 MEDLINE  
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Zatz, Mayana
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[PMID]:28328130
[Au] Autor:Romanelli Tavares VL; Zechi-Ceide RM; Bertola DR; Gordon CT; Ferreira SG; Hsia GS; Yamamoto GL; Ezquina SA; Kokitsu-Nakata NM; Vendramini-Pittoli S; Freitas RS; Souza J; Raposo-Amaral CA; Zatz M; Amiel J; Guion-Almeida ML; Passos-Bueno MR
[Ad] Endereço:Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.
[Ti] Título:Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
[So] Source:Am J Med Genet A;173(4):938-945, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Otopatias/diagnóstico
Orelha/anormalidades
Predisposição Genética para Doença
Micrognatismo/diagnóstico
Mutação
Fosfolipase C beta/genética
Síndrome de Pierre Robin/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Criança
Orelha/patologia
Otopatias/classificação
Otopatias/genética
Otopatias/patologia
Endotelina-1/genética
Feminino
Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética
Expressão Gênica
Genes Dominantes
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Micrognatismo/classificação
Micrognatismo/genética
Micrognatismo/patologia
Linhagem
Fenótipo
Síndrome de Pierre Robin/classificação
Síndrome de Pierre Robin/genética
Síndrome de Pierre Robin/patologia
Terminologia como Assunto
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Endothelin-1); EC 3.1.4.11 (PLCB4 protein, human); EC 3.1.4.11 (Phospholipase C beta); EC 3.6.5.1 (GNAI3 protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gi-Go)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38101


  6 / 1303 MEDLINE  
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[PMID]:28198391
[Au] Autor:Vetro A; Savasta S; Russo Raucci A; Cerqua C; Sartori G; Limongelli I; Forlino A; Maruelli S; Perucca P; Vergani D; Mazzini G; Mattevi A; Stivala LA; Salviati L; Zuffardi O
[Ad] Endereço:Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[Ti] Título:MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
[So] Source:Eur J Hum Genet;25(5):646-650, 2017 May.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5. This gene encodes a subunit of the replicative helicase complex, which represents a component of the pre-RC. Both variants, a missense substitution within a conserved domain critical for the helicase activity, and a single base deletion causing a frameshift and a premature stop codon, were predicted to be detrimental for the MCM5 function. Although variants of MCM5 have never been reported in specific human diseases, defect of this gene in zebrafish causes a phenotype of growth restriction overlapping the one associated with orc1 depletion. Complementation experiments in yeast showed that the plasmid carrying the missense variant was unable to rescue the lethal phenotype caused by mcm5 deletion. Moreover cell-cycle progression was delayed in patient's cells, as already shown for mutations in the ORC1 gene. Altogether our findings support the role of MCM5 as a novel gene involved in MGORS, further emphasizing that this condition is caused by impaired DNA replication.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/genética
Microtia Congênita/genética
Transtornos do Crescimento/genética
Micrognatismo/genética
Patela/anormalidades
[Mh] Termos MeSH secundário: Proteínas de Ciclo Celular/metabolismo
Células Cultivadas
Criança
Códon sem Sentido
Microtia Congênita/diagnóstico
Replicação do DNA
Exoma
Teste de Complementação Genética
Transtornos do Crescimento/diagnóstico
Seres Humanos
Mutação INDEL
Masculino
Micrognatismo/diagnóstico
Mutação de Sentido Incorreto
Saccharomyces cerevisiae/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (Codon, Nonsense); 0 (MCM5 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170601
[Lr] Data última revisão:
170601
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170216
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.5


  7 / 1303 MEDLINE  
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[PMID]:28186598
[Au] Autor:Li J; Ding Y; Chang G; Cheng Q; Li X; Wang J; Wang X; Shen Y
[Ad] Endereço:Department of Endocrinology, Metabolism and Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. labwangjian@shsmu.edu.cn; wangxiumin1019@126.com.
[Ti] Título:[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):68-72, 2017 Feb 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein. CONCLUSION: The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 16/genética
Microtia Congênita/genética
Transtornos do Crescimento/genética
Micrognatismo/genética
Mutação
Complexo de Reconhecimento de Origem/genética
Patela/anormalidades
Dissomia Uniparental/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Saúde da Família
Pai
Heterozigoto
Seres Humanos
Masculino
Reação em Cadeia da Polimerase/métodos
Análise de Sequência de DNA/métodos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ORC6 protein, human); 0 (Origin Recognition Complex)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.01.016


  8 / 1303 MEDLINE  
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[PMID]:28183550
[Au] Autor:Morimoto Y; Ohyamaguchi A; Inoue M; Yokoe C; Hanamoto H; Imaizumi U; Sugimura M; Niwa H
[Ad] Endereço:Division of Anesthesiology, Department of Critical Care Medicine and Dentistry, Graduate School of Dentistry, Kanagawa Dental University, 82, Inaoka-cho, Yokosuka, Kanagawa 238-8580, Japan; Department of Dental Anesthesiology, Graduate School of Dentistry, Osaka University, 1-8, Yamadaoka, Suita, Os
[Ti] Título:Airway management for glossopexy in infants with micrognathia and obstructive breathing.
[So] Source:J Clin Anesth;36:127-132, 2017 Feb.
[Is] ISSN:1873-4529
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:STUDY OBJECTIVES: To identify airway management and tracheal intubation techniques for glossopexy in infants with preexisting airway obstruction under general anesthesia. DESIGN: Retrospective, observational study. SETTINGS: Operating room of a university hospital between January 2003 and March 2015. All operations were performed by oral and maxillofacial surgeons. PATIENTS: Thirteen patients who received general anesthesia for glossopexy and reversal after 7 months. MEASUREMENTS: The medical records of these infants were retrospectively examined to evaluate the following: age, sex, height and weight at surgery, preoperative airway status, tracheal intubation route (oral or nasal), method for inducing general anesthesia, method for establishing the airway during mask ventilation, apparatus used for tracheal intubation, Cormack-Lehane classification when using a Macintosh laryngoscope and video laryngoscope, and the need for airway placement after extubation. RESULTS: Prone positioning and/or an airway of some kind before surgery were required in 38.5% of infants needing glossopexy. Difficult mask ventilation was common, occurring in 50% of the patients, and the incidence of airway placement during mask ventilation was significantly higher in infants with preoperative complete or incomplete obstruction (100%) than in infants with snoring (25%). Of these high-risk infants, 25% could not be intubated with a direct laryngoscope or Glidescope Cobalt and required fiberoptic intubation. CONCLUSION: There are severe cases of infants with difficult mask ventilation and difficult tracheal intubation in which a fiberscope is required because video laryngoscopy fails to improve the view of the larynx.
[Mh] Termos MeSH primário: Manuseio das Vias Aéreas/métodos
Obstrução das Vias Respiratórias/cirurgia
Lábio/cirurgia
Micrognatismo/cirurgia
Língua/cirurgia
[Mh] Termos MeSH secundário: Anestesia Geral/métodos
Anormalidades Craniofaciais/cirurgia
Feminino
Tecnologia de Fibra Óptica/métodos
Seres Humanos
Lactente
Intubação Intratraqueal/métodos
Laringoscopia/métodos
Masculino
Síndrome de Pierre Robin/cirurgia
Reoperação/métodos
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE


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[PMID]:28124119
[Au] Autor:Bramswig NC; Caluseriu O; Lüdecke HJ; Bolduc FV; Noel NC; Wieland T; Surowy HM; Christen HJ; Engels H; Strom TM; Wieczorek D
[Ad] Endereço:Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. nuria.braemswig@uni-due.de.
[Ti] Título:Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
[So] Source:Hum Genet;136(3):297-305, 2017 Mar.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the nucleosome landscape in an ATP-dependent manner and is divided into the two major subclasses Brahma-associated factor (BAF) and Polybromo Brahma-associated factor (PBAF) complex. Somatic mutations in subunits of the SWI/SNF complex have been associated with different cancers, while germline mutations have been associated with autism spectrum disorder and the neurodevelopmental disorders Coffin-Siris (CSS) and Nicolaides-Baraitser syndromes (NCBRS). CSS is characterized by intellectual disability (ID), coarsening of the face and hypoplasia or absence of the fifth finger- and/or toenails. So far, variants in five of the SWI/SNF subunit-encoding genes ARID1B, SMARCA4, SMARCB1, ARID1A, and SMARCE1 as well as variants in the transcription factor-encoding gene SOX11 have been identified in CSS-affected individuals. ARID2 is a member of the PBAF subcomplex, which until recently had not been linked to any neurodevelopmental phenotypes. In 2015, mutations in the ARID2 gene were associated with intellectual disability. In this study, we report on two individuals with private de novo ARID2 frameshift mutations. Both individuals present with a CSS-like phenotype including ID, coarsening of facial features, other recognizable facial dysmorphisms and hypoplasia of the fifth toenails. Hence, this study identifies mutations in the ARID2 gene as a novel and rare cause for a CSS-like phenotype and enlarges the list of CSS-like genes.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Face/anormalidades
Mutação da Fase de Leitura
Deformidades Congênitas da Mão/genética
Heterozigoto
Deficiência Intelectual/genética
Micrognatismo/genética
Pescoço/anormalidades
Fenótipo
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ARID2 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170127
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-017-1757-z


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[PMID]:28106628
[Au] Autor:Jenny HE; Massenburg BB; Weissler EH; Taub PJ
[Ad] Endereço:From the Mount Sinai Cleft and Craniofacial Center, Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, Kravis Children's Hospital, New York, NY.
[Ti] Título:Neonatal Micrognathia: National Trends in Early Mandibular Surgery.
[So] Source:Ann Plast Surg;78(3):338-341, 2017 Mar.
[Is] ISSN:1536-3708
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Micrognathia is a congenital anomaly that may pose breathing and feeding limitations in newborns, sometimes necessitating invasive management. The present study aims to identify the complications associated with receiving mandibular surgery during the birth stay in order to better predict which patients may benefit from early surgical intervention. METHODS: A retrospective cohort study was performed using the 2000 to 2012 kids' inpatient databases. We included all live newborn infants born in the hospital through vaginal delivery or caesarean section. We used multivariate logistic regression to investigate the demographic and clinical factors associated with receiving mandibular surgery for micrognathia during the birth stay. RESULTS: Of 19,638,453 births, 999 were diagnosed with micrognathia (0.005%). Forty (4%) patients with micrognathia underwent mandibular surgery during the initial admission. On univariate analysis in newborns with micrognathia, mandibular surgery during birth stay was associated with cleft palate, apnea, intubation, tracheostomy, obstructive sleep apnea (OSA), and long mechanical ventilation. Multivariate analysis supported the association between mandibular surgery during the initial admission and long mechanical ventilation (odds ratio [OR], 24.6; 95% confidence interval [CI], 7.7-78.5), OSA (OR, 24.9; 95% CI, 2.5-261.8), apnea (OR, 4.2; 95% CI, 1.5-11.3), and cleft palate (OR, 4.6; 95% CI, 2.0-10.6). However, intubation and tracheostomy were not found to be associated with early mandibular surgery during the birth stay. CONCLUSIONS: The present study identified long mechanical ventilation, apnea, cleft palate, and OSA as factors indicating patients who may benefit from early mandibular surgery, such as mandibular distraction osteogenesis. These findings may bring the clinician closer to standardizing the indications for early mandibular distraction osteogenesis.
[Mh] Termos MeSH primário: Reconstrução Mandibular/utilização
Micrognatismo/cirurgia
Padrões de Prática Médica/tendências
[Mh] Termos MeSH secundário: Bases de Dados Factuais
Feminino
Seres Humanos
Recém-Nascido
Modelos Logísticos
Masculino
Reconstrução Mandibular/métodos
Reconstrução Mandibular/estatística & dados numéricos
Reconstrução Mandibular/tendências
Osteogênese por Distração/estatística & dados numéricos
Osteogênese por Distração/tendências
Osteogênese por Distração/utilização
Complicações Pós-Operatórias/epidemiologia
Complicações Pós-Operatórias/etiologia
Padrões de Prática Médica/estatística & dados numéricos
Estudos Retrospectivos
Fatores de Tempo
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170121
[St] Status:MEDLINE
[do] DOI:10.1097/SAP.0000000000000969



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