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[PMID]:29280877
[Au] Autor:Lesciotto KM; Heuzé Y; Wang Jabs E; Bernstein JM; Richtsmeier JT
[Ad] Endereço:University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.
[Ti] Título:Choanal Atresia and Craniosynostosis: Development and Disease.
[So] Source:Plast Reconstr Surg;141(1):156-168, 2018 01.
[Is] ISSN:1529-4242
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.
[Mh] Termos MeSH primário: Anormalidades Múltiplas
Atresia das Cóanas
Craniossinostoses
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/embriologia
Anormalidades Múltiplas/genética
Animais
Atresia das Cóanas/diagnóstico
Atresia das Cóanas/embriologia
Atresia das Cóanas/genética
Craniossinostoses/diagnóstico
Craniossinostoses/embriologia
Craniossinostoses/genética
Marcadores Genéticos
Seres Humanos
Camundongos
Mutação
Nasofaringe/anormalidades
Nasofaringe/anatomia & histologia
Nasofaringe/embriologia
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Genetic Markers); EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Fgfr2 protein, mouse); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171228
[St] Status:MEDLINE
[do] DOI:10.1097/PRS.0000000000003928


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[PMID]:28583512
[Au] Autor:Brihaye P; Delpierre I; De Villé A; Johansson AB; Biarent D; Mansbach AL
[Ad] Endereço:University Children's Hospital Reine Fabiola, Department of ENT, Brussels, Belgium. Electronic address: pierre.brihaye@huderf.be.
[Ti] Título:Comprehensive management of congenital choanal atresia.
[So] Source:Int J Pediatr Otorhinolaryngol;98:9-18, 2017 Jul.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To present results of a one-stage minimally invasive surgical procedure for congenital choanal atresia (CCA). Seven outcome measures were applied. MATERIALS AND METHODS: Retrospective study conducted between 1999 and 2015. The same endonasal endoscopic approach with multiflaps and no stenting was used on 36 children. The flaps were attached with fibrine glue. There were 50% unilateral and 50% bilateral cases, 70% primary and 30% secondary surgery. The mean age at primary surgery for bilateral atresia was 10 days and for unilateral atresia 4 years. Associated loco-regional disorders were: hypoplasia of the inferior turbinate, rhinopharyngeal stenosis and rhinopharyngeal web. RESULTS: The average follow-up time was 6 years, ranging from 1 to 14 years. There was a functionally patent choanae in 94% of children, and 6% showed severe restenosis with a diameter less than 4 mm, which needed one revision surgery each. Charge patients were not associated with worse outcome. There was no external nasal valve stenosis and no permanent Eustachian tube dysfunction. Synechiae occurred in 3 patients with hyperplastic inferior turbinate. No patients showed any disharmonious nasal growth. In neonates with isolated bilateral CCA, breast-suction could be started within 1 day (range 1-2 days), and pain-killers were needed on average for 1.5 days (range 1-4 days). The hospital stay for unilateral isolated CCA was on average 1.5 days (range 1-2 days) and for bilateral isolated CCA, 8 days (range 3-20 days). Postoperative procedures under a short general anesthesia were necessary in 12 cases, 10 of them were infants under 6 months of age. CONCLUSION: Surgery could be performed safely in the newborn in the early stage of life, even for unilateral atresia. Tendency for restenosis can be minimized by: 1. the construction of an as large as possible uni-neochoanae by removing the posterior part of the vomer and by drilling away the medial pterygoid; 2. in case of rhinopharyngeal stenosis, part of the endochondral clivus bone should be resected; 3. all raw surfaces should be covered by multiple mucosal flaps secured with fibrin glue; 4. no stenting; 5. appropriate postoperative care.
[Mh] Termos MeSH primário: Atresia das Cóanas/cirurgia
Endoscopia/métodos
Procedimentos Cirúrgicos Minimamente Invasivos/métodos
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Endoscopia/efeitos adversos
Feminino
Seguimentos
Seres Humanos
Lactente
Recém-Nascido
Tempo de Internação/estatística & dados numéricos
Masculino
Procedimentos Cirúrgicos Minimamente Invasivos/efeitos adversos
Complicações Pós-Operatórias/epidemiologia
Reoperação/estatística & dados numéricos
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE


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[PMID]:28414605
[Au] Autor:Pader K; Burns PM; Brisville AC; Rousseau M; Blond L; Truchetti G; Lardé H; Lapointe C; Francoz D
[Ti] Título:Use of a novel surgical approach for treatment of complete bilateral membranous choanal atresia in an alpaca cria.
[So] Source:J Am Vet Med Assoc;250(9):1036-1041, 2017 May 01.
[Is] ISSN:1943-569X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CASE DESCRIPTION A 4-hour-old 6.3-kg (13.9-lb) female alpaca cria was evaluated because of severe respiratory distress and difficulty nursing since birth. CLINICAL FINDINGS The cria had open-mouth breathing and cyanotic membranes, with no airflow evident from either nostril. Supplemental oxygen was delivered, and the patient was anesthetized and intubated orotracheally; a CT evaluation of the head confirmed bilateral membranous obstruction of the nasal cavities, consistent with complete bilateral choanal atresia. TREATMENT AND OUTCOME Choanal atresia was treated with an endoscopically assisted balloon-dilation technique, and temporary tracheostomy was performed. Stenosis recurred, requiring revision of the repair and intranasal stent placement 3 days after the first surgery. The tracheostomy tube was removed the next day. Complications during hospitalization included mucoid obstruction of the tracheostomy tube, granulation tissue development in the trachea near the tracheostomy site, mucoid stent obstruction, aspiration pneumonia, and presumed partial failure of passive transfer of immunity. The stents were removed 2 weeks after admission, and the cria was discharged 3 days later. The owner was advised that the animal should not be bred. At last follow-up 3 years later, the alpaca was doing well. CLINICAL RELEVANCE Surgical treatment with a balloon-dilation technique and placement of nasal stents with endoscopic guidance were curative in this neonatal alpaca with bilateral membranous choanal atresia. Computed tomography was useful to determine the nature of the atresia and aid surgical planning. Because a genetic component is likely, owners should be advised to prevent affected animals from breeding.
[Mh] Termos MeSH primário: Camelídeos Americanos
Atresia das Cóanas/veterinária
Insuficiência Respiratória/veterinária
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Atresia das Cóanas/complicações
Atresia das Cóanas/diagnóstico
Atresia das Cóanas/diagnóstico por imagem
Atresia das Cóanas/cirurgia
Diagnóstico Diferencial
Feminino
Insuficiência Respiratória/etiologia
Stents
Tomografia Computadorizada por Raios X/veterinária
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170418
[St] Status:MEDLINE
[do] DOI:10.2460/javma.250.9.1036


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[PMID]:28222895
[Au] Autor:Jansz N; Chen K; Murphy JM; Blewitt ME
[Ad] Endereço:The Walter and Eliza Hall Institute of Medical Research, Melbourne VIC, Australia; The Department of Medical Biology, The University of Melbourne, Melbourne VIC, Australia.
[Ti] Título:The Epigenetic Regulator SMCHD1 in Development and Disease.
[So] Source:Trends Genet;33(4):233-243, 2017 Apr.
[Is] ISSN:0168-9525
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1.
[Mh] Termos MeSH primário: Atresia das Cóanas/genética
Proteínas Cromossômicas não Histona/genética
Epigênese Genética
Microftalmia/genética
Distrofia Muscular Facioescapuloumeral/genética
Nariz/anormalidades
[Mh] Termos MeSH secundário: Animais
Metilação de DNA/genética
Heterozigoto
Seres Humanos
Camundongos
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Chromosomal Proteins, Non-Histone); 0 (SMCHD1 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


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[PMID]:28169399
[Au] Autor:Kurosaka H; Wang Q; Sandell L; Yamashiro T; Trainor PA
[Ad] Endereço:Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka, Japan.
[Ti] Título:Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.
[So] Source:Hum Mol Genet;26(7):1268-1279, 2017 Apr 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked. CA occurs in approximately 1/5000 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes. However, the detailed cellular and molecular mechanisms underpinning the etiology and pathogenesis of CA remain elusive. In this study, we discovered that mice with mutations in retinol dehydrogenase 10 (Rdh10), which perturbs Vitamin A metabolism and retinoid signaling, exhibit fully penetrant CA. Interestingly, we demonstrate Rdh10 is specifically required in non-neural crest cells prior to E10.5 for proper choanae formation, and that in the absence of Rdh10, Fgf8 is ectopically expressed in the nasal fin. Furthermore, we found that defects in choanae development are associated with decreased cell proliferation and increased cell death in the epithelium of the developing nasal cavity, which retards invagination of the nasal cavity, and thus appears to contribute to the pathogenesis of CA. Taken together, our findings demonstrate that RDH10 is essential during the early stages of facial morphogenesis for the formation of a functional nasal airway, and furthermore establish Rdh10 mutant mice as an important model system to study CA.
[Mh] Termos MeSH primário: Oxirredutases do Álcool/genética
Atresia das Cóanas/genética
Face/fisiopatologia
Desenvolvimento Maxilofacial/genética
[Mh] Termos MeSH secundário: Oxirredutases do Álcool/biossíntese
Animais
Atresia das Cóanas/metabolismo
Atresia das Cóanas/fisiopatologia
Modelos Animais de Doenças
Desenvolvimento Embrionário/genética
Fator 8 de Crescimento de Fibroblasto/genética
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Camundongos
Morfogênese/genética
Mutação
Vitamina A/genética
Vitamina A/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fgf8 protein, mouse); 11103-57-4 (Vitamin A); 148997-75-5 (Fibroblast Growth Factor 8); EC 1.1.- (Alcohol Oxidoreductases); EC 1.1.1.- (trans-retinol dehydrogenase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx031


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[PMID]:28138148
[Au] Autor:Wilkie AO
[Ad] Endereço:Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
[Ti] Título:Many faces of SMCHD1.
[So] Source:Nat Genet;49(2):176-178, 2017 Jan 31.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.
[Mh] Termos MeSH primário: Atresia das Cóanas/genética
Proteínas Cromossômicas não Histona/genética
Pleiotropia Genética
Microftalmia/genética
Mutação
Nariz/anormalidades
[Mh] Termos MeSH secundário: Atresia das Cóanas/patologia
Proteínas Cromossômicas não Histona/química
Reparo do DNA
Expressão Gênica
Impressão Genômica
Seres Humanos
Microftalmia/patologia
Nariz/patologia
Domínios Proteicos
Multimerização Proteica
Inativação do Cromossomo X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromosomal Proteins, Non-Histone); 0 (SMCHD1 protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170720
[Lr] Data última revisão:
170720
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3776


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[PMID]:28067911
[Au] Autor:Gordon CT; Xue S; Yigit G; Filali H; Chen K; Rosin N; Yoshiura KI; Oufadem M; Beck TJ; McGowan R; Magee AC; Altmüller J; Dion C; Thiele H; Gurzau AD; Nürnberg P; Meschede D; Mühlbauer W; Okamoto N; Varghese V; Irving R; Sigaudy S; Williams D; Ahmed SF; Bonnard C; Kong MK; Ratbi I; Fejjal N; Fikri M; Elalaoui SC; Reigstad H; Bole-Feysot C; Nitschké P; Ragge N; Lévy N; Tunçbilek G; Teo AS; Cunningham ML; Sefiani A; Kayserili H; Murphy JM; Chatdokmaiprai C; Hillmer AM; Wattanasirichaigoon D; Lyonnet S; Magdinier F; Javed A; Blewitt ME; Amiel J; Wollnik B
[Ad] Endereço:Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
[Ti] Título:De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
[So] Source:Nat Genet;49(2):249-255, 2017 Feb.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.
[Mh] Termos MeSH primário: Atresia das Cóanas/genética
Proteínas Cromossômicas não Histona/genética
Microftalmia/genética
Mutação de Sentido Incorreto/genética
Nariz/anormalidades
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Pré-Escolar
Epigênese Genética/genética
Feminino
Predisposição Genética para Doença/genética
Seres Humanos
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Distrofia Muscular Facioescapuloumeral/genética
Xenopus laevis/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromosomal Proteins, Non-Histone); 0 (SMCHD1 protein, human)
[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:170110
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3765


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[PMID]:28067909
[Au] Autor:Shaw ND; Brand H; Kupchinsky ZA; Bengani H; Plummer L; Jones TI; Erdin S; Williamson KA; Rainger J; Stortchevoi A; Samocha K; Currall BB; Dunican DS; Collins RL; Willer JR; Lek A; Lek M; Nassan M; Pereira S; Kammin T; Lucente D; Silva A; Seabra CM; Chiang C; An Y; Ansari M; Rainger JK; Joss S; Smith JC; Lippincott MF; Singh SS; Patel N; Jing JW; Law JR; Ferraro N; Verloes A; Rauch A; Steindl K; Zweier M; Scheer I; Sato D; Okamoto N; Jacobsen C; Tryggestad J; Chernausek S; Schimmenti LA; Brasseur B; Cesaretti C; García-Ortiz JE; Buitrago TP
[Ad] Endereço:Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
[Ti] Título:SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
[So] Source:Nat Genet;49(2):238-248, 2017 Feb.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders. CRISPR/Cas9-mediated alteration of smchd1 in zebrafish yielded arhinia-relevant phenotypes. Transcriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mRNA or protein abundance but revealed regulatory changes in genes and pathways associated with craniofacial patterning. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which we speculate to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.
[Mh] Termos MeSH primário: Atresia das Cóanas/genética
Proteínas Cromossômicas não Histona/genética
Predisposição Genética para Doença/genética
Microftalmia/genética
Distrofias Musculares/genética
Mutação/genética
Nariz/anormalidades
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromosomal Proteins, Non-Histone); 0 (SMCHD1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170110
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3743


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[PMID]:27991736
[Au] Autor:Badalato L; Farhan SM; Dilliott AA; Bulman DE; Hegele RA; Goobie SL; Care4Rare Canada Consortium
[Ad] Endereço:Faculty of Medicine, Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[Ti] Título:KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
[So] Source:Am J Med Genet A;173(1):183-189, 2017 Jan.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Síndrome CHARGE/genética
Atresia das Cóanas/genética
Proteínas de Ligação a DNA/genética
Face/anormalidades
Genes Dominantes
Estudos de Associação Genética
Doenças Hematológicas/genética
Mutação
Proteínas de Neoplasias/genética
Doenças Vestibulares/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Adulto
Substituição de Aminoácidos
Síndrome CHARGE/diagnóstico
Criança
Atresia das Cóanas/diagnóstico
Atresia das Cóanas/cirurgia
Cromossomos Humanos Par 22
Códon
Diagnóstico por Imagem
Exoma
Facies
Feminino
Doenças Hematológicas/diagnóstico
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Fenótipo
Doenças Vestibulares/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon); 0 (DNA-Binding Proteins); 0 (MLL2 protein, human); 0 (Neoplasm Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161220
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38010


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Fotocópia
[PMID]:27913724
[Au] Autor:Bangiyev JN; Govil N; Sheyn A; Haupert M; Thottam PJ
[Ad] Endereço:Detroit Medical Center Department of Otolaryngology-HNS, Detroit, Michigan, USA.
[Ti] Título:Novel Application of Steroid Eluting Stents in Choanal Atresia Repair: A Case Series.
[So] Source:Ann Otol Rhinol Laryngol;126(1):79-82, 2017 Jan.
[Is] ISSN:1943-572X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To describe the application of mometasone furoate eluting sinus stent technology in the treatment of choanal atresia (CA) in the hopes of preventing postsurgical stenosis. METHODS: We analyzed 3 consecutive patients aged 4 days to 16 years undergoing repair of CA at a tertiary pediatric hospital. Mometasone furoate eluting sinus stents were placed intraoperatively. Postoperative need for revision surgery as well as routine surveillance endoscopy were used to determine success of surgery. RESULTS: Three patients of varying age and etiology underwent successful repair of choanal atresia/stenosis. The steroid eluting sinus stent was deployed successfully in all 3 cases. There was no identifiable restenosis in any of the 3 patients with 12-month follow-up. There were no complications noted throughout the follow-up period. CONCLUSIONS: Choanal atresia is a rare disorder that can prove difficult in postsurgical management. In our case series, mometasone furoate eluting stents were effective and safe for the management of this disease process. Further prospective studies are needed to determine the exact safety profile, long-term consequences, and efficacy of steroid eluting sinus stents in the pediatric population.
[Mh] Termos MeSH primário: Anti-Inflamatórios/administração & dosagem
Atresia das Cóanas/terapia
Stents Farmacológicos
Furoato de Mometasona/administração & dosagem
[Mh] Termos MeSH secundário: Adolescente
Pré-Escolar
Feminino
Seres Humanos
Recém-Nascido
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); 04201GDN4R (Mometasone Furoate)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161204
[St] Status:MEDLINE



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