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[PMID]:29178640
[Au] Autor:Sukalo M; Schäflein E; Schanze I; Everman DB; Rezaei N; Argente J; Lorda-Sanchez I; Deshpande C; Takahashi T; Kleger A; Zenker M
[Ad] Endereço:Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[Ti] Título:Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
[So] Source:Mol Genet Genomic Med;5(6):774-780, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study. In order to discover mutations that are not detectable by Sanger sequencing, we designed a probe set for multiplex ligation-dependent probe amplification (MLPA) analysis of the UBR1 gene and analyzed the copy number status of all 47 UBR1 exons. RESULTS: Our previous studies using Sanger sequencing could detect mutations in 93.1% of 130 disease-associated UBR1 alleles. Six patients with a highly suggestive clinical diagnosis of JBS and unsolved genotype were included in this study. MLPA analysis detected six alleles harboring exon deletions/duplications, thereby raising the mutation detection rate in the entire cohort to 97.7% (127/130 alleles). CONCLUSION: We conclude that single or multi-exon deletions or duplications account for a substantial proportion of JBS-associated UBR1 mutations.
[Mh] Termos MeSH primário: Anus Imperfurado/genética
Displasia Ectodérmica/genética
Transtornos do Crescimento/genética
Perda Auditiva Neurossensorial/genética
Hipotireoidismo/genética
Deficiência Intelectual/genética
Nariz/anormalidades
Pancreatopatias/genética
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Anus Imperfurado/diagnóstico
Sequência de Bases
Criança
Pré-Escolar
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Análise Mutacional de DNA
Displasia Ectodérmica/diagnóstico
Éxons
Feminino
Deleção de Genes
Duplicação Gênica
Genótipo
Transtornos do Crescimento/diagnóstico
Perda Auditiva Neurossensorial/diagnóstico
Seres Humanos
Hipotireoidismo/diagnóstico
Deficiência Intelectual/diagnóstico
Masculino
Reação em Cadeia da Polimerase Multiplex
Pancreatopatias/diagnóstico
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
9007-49-2 (DNA); EC 2.3.2.27 (UBR1 protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.319


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[PMID]:28576536
[Au] Autor:Holcomb MA; Rizk HG; Morris NS; Meyer TA
[Ad] Endereço:Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, United States. Electronic address: holcombm@musc.edu.
[Ti] Título:Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.
[So] Source:Int J Pediatr Otorhinolaryngol;95:69-71, 2017 Apr.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were documented. Cochlear implantation is an available treatment option of profound SNHL in children with JBS even if spoken language outcomes are marginal.
[Mh] Termos MeSH primário: Anus Imperfurado/cirurgia
Implante Coclear/métodos
Displasia Ectodérmica/cirurgia
Transtornos do Crescimento/cirurgia
Perda Auditiva Neurossensorial/cirurgia
Hipotireoidismo/cirurgia
Deficiência Intelectual/cirurgia
Nariz/anormalidades
Pancreatopatias/cirurgia
[Mh] Termos MeSH secundário: Anus Imperfurado/complicações
Pré-Escolar
Implantes Cocleares
Displasia Ectodérmica/complicações
Transtornos do Crescimento/complicações
Perda Auditiva Neurossensorial/complicações
Perda Auditiva Neurossensorial/etiologia
Seres Humanos
Hipotireoidismo/complicações
Deficiência Intelectual/complicações
Masculino
Nariz/cirurgia
Pancreatopatias/complicações
Percepção da Fala
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170604
[St] Status:MEDLINE


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[PMID]:28139025
[Au] Autor:Dunn P; Prigatano GP; Szelinger S; Roth J; Siniard AL; Claasen AM; Richholt RF; De Both M; Corneveaux JJ; Moskowitz AM; Balak C; Piras IS; Russell M; Courtright AL; Belnap N; Rangasamy S; Ramsey K; Opitz JM; Craig DW; Narayanan V; Huentelman MJ; Schrauwen I
[Ad] Endereço:Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
[Ti] Título:A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
[So] Source:Am J Med Genet A;173(3):611-617, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. There is considerable variability in clinical phenotype among patients with a CASK mutation, even among variants predicted to have similar functionality. Our patient presented with developmental delay, nystagmus, and severe gastrointestinal and gastroesophageal complications. From a cognitive and neuropsychological perspective, language skills and IQ are within normal range, although visual-motor, motor development, behavior, and working memory were impaired. The c.2521-2A>G splice mutation leads to skipping of exon 26 and a 9 base-pair deletion associated with a cryptic splice site, leading to a 28-AA and a 3-AA in-frame deletion, respectively (p.Ala841_Lys843del and p.Ala841_Glu868del). The predominant mutant transcripts contain an aberrant guanylate kinase domain and thus are predicted to degrade CASK's ability to interact with important neuronal and ocular development proteins, including FRMD7. Upregulation of CASK as well as dysregulation among a number of interactors is also evident by RNA-seq. This is the second CASK mutation known to us as cause of FGS4. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Agenesia do Corpo Caloso/diagnóstico
Agenesia do Corpo Caloso/genética
Anus Imperfurado/diagnóstico
Anus Imperfurado/genética
Constipação Intestinal/diagnóstico
Constipação Intestinal/genética
Guanilato Quinases/genética
Retardo Mental Ligado ao Cromossomo X/diagnóstico
Retardo Mental Ligado ao Cromossomo X/genética
Hipotonia Muscular/congênito
Mutação
Nistagmo Congênito/diagnóstico
Nistagmo Congênito/genética
Sítios de Splice de RNA
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Facies
Feminino
Expressão Gênica
Estudos de Associação Genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/genética
Testes Neuropsicológicos
Fenótipo
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA Splice Sites); EC 2.7.11.1 (CASK kinases); EC 2.7.4.8 (Guanylate Kinases)
[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:170201
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38069


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[PMID]:28127784
[Au] Autor:Hosokawa T; Yamada Y; Sato Y; Tanami Y; Tanaka Y; Kawashima H; Oguma E
[Ad] Endereço:Department of Radiology, Saitama Children's Medical Center, Saitama, Japan.
[Ti] Título:Changes in the Distance Between the Distal Rectal Pouch and Perineum From the Birth Day to the Next Day in Neonates With an Imperforate Anus.
[So] Source:J Ultrasound Med;36(3):601-606, 2017 Mar.
[Is] ISSN:1550-9613
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To evaluate changes in the distance between the distal rectal pouch and the perineum (pouch-perineum distance) from the birth day to the next day and to determine which day is better for diagnosis of a low-type imperforate anus in neonates. METHODS: We reviewed medical records at our hospital from May 2003 to August 2015 and identified 9 neonates with a radiographically and surgically proven low-type imperforate anus and 9 with high/intermediate types of imperforate anus who had undergone sonography on both the birth day and the next day before the first surgical treatment. The sonograms were reviewed to measure the pouch-perineum distance at both examinations. The Wilcoxon signed rank sum test and a receiver operating characteristic curve analysis were used for the statistical analyses. RESULTS: The pouch-perineum distance on the next day (mean ± SD, 9.37 ± 4.89 mm; range, 2.1-20.9 mm) was significantly shorter than on the birth day (15.75 ± 6.67 mm; range, 8.1-37.2 mm; P = .001). The receiver operating characteristic analysis showed significantly better diagnostic performance (P < .001) of the pouch-perineum distance on the next day (area under the curve, 0.864) versus the birth day (0.420) for the low-type imperforate anus. CONCLUSIONS: The pouch-perineum distance was shorter on the next day than on the birth day, and the diagnostic performance of the pouch-perineum distance on the next day was significantly superior to that on the birth day for the diagnosis of a low-type imperforate anus. We recommend sonography on the next day in neonates with an imperforate anus when possible.
[Mh] Termos MeSH primário: Anus Imperfurado/diagnóstico por imagem
Pesos e Medidas Corporais/métodos
Períneo/diagnóstico por imagem
Reto/diagnóstico por imagem
Ultrassonografia/métodos
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Recém-Nascido
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170128
[St] Status:MEDLINE
[do] DOI:10.7863/ultra.16.04042


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[PMID]:28070723
[Au] Autor:Lopez MP; Encila VI; Alamo SG; Monroy HJ; Roxas MF
[Ad] Endereço:Division of Colorectal Surgery, Philippine General HospitalUniversity of the Philippines, Taft Avenue, 1000, Manila, Philippines.
[Ti] Título:Anorectal malformations: definitive surgery during adulthood.
[So] Source:Tech Coloproctol;21(2):111-118, 2017 02.
[Is] ISSN:1128-045X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Anorectal malformations (ARMs) are rarely seen in adults, since majority of cases are corrected in infancy or childhood. The aim of this study was to describe the profile of patients who underwent definitive surgery to correct their ARM in adulthood, and to discuss the outcomes of surgery (morbidity, mortality, and function). METHODS: This retrospective study included patients 18 years old and above, managed surgically by the Division of Colorectal Surgery at the Philippine General Hospital, University of the Philippines, Manila, from January 1, 2004, to December 31, 2012. Data from the Integrated Surgical Information System and the patients' hospital records were used to fill out a Data Collection Form. Frequencies and percentages were then computed. RESULTS: Eight patients were included in the study. The most common reason for consult was recurrent urinary tract infection (UTI, 25%). One patient had an imperforate anus (IA) without a fistula, and 1 patient had IA with rectal atresia, and the 6 had an IA with a fistula. All but one (87.5%) of the patients had undergone a prior diversion in infancy or childhood. Definitive surgical procedures included posterior sagittal anorectoplasty (PSARP) in 3 patients, anal transposition in 2 patients, laparotomy with colocutaneous anastomosis in two patients, and laparotomy and PSARP in 1 patient. There were 3 cases (37.5%) of postoperative complications. These complications included ureteral injury, enterocutaneous fistula, anal stricture, rectal stricture, rectovesical fistula, and recurrent rectourethral fistula. There was no reported mortality. Five patients already had their stomas reversed at the time of this writing. CONCLUSION: Our results showed that the rarity of the disease, limited surgical experience, and a technically challenging anatomy make the management of ARMs that persist into adulthood a formidable undertaking.
[Mh] Termos MeSH primário: Fatores Etários
Malformações Anorretais/cirurgia
Procedimentos Cirúrgicos do Sistema Digestório/métodos
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Canal Anal/patologia
Canal Anal/cirurgia
Anus Imperfurado/cirurgia
Feminino
Seres Humanos
Masculino
Filipinas
Complicações Pós-Operatórias/etiologia
Fístula Retal/congênito
Fístula Retal/cirurgia
Reto/patologia
Reto/cirurgia
Estudos Retrospectivos
Resultado do Tratamento
Doenças Uretrais/etiologia
Doenças Uretrais/cirurgia
Fístula Urinária/etiologia
Fístula Urinária/cirurgia
Adulto Jovem
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.1007/s10151-016-1577-5


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[PMID]:27879005
[Au] Autor:Bronshtein M; Gover A; Beloosesky R; Blumenfeld Z
[Ad] Endereço:Faculty of Social Welfare and Health Sciences, University of Haifa, Moshe Bronshtein Zeev Blumenfeld, 4 Reproductive Endocrinology, Department OB/GYN, Rambam Health Care Campus, Rappaport Faculty of Medicine, Technion-, 8 Ha'Aliyah Street, 31096, Haifa, Israel.
[Ti] Título:Transient Distention of Right Posterior Located Sigma, a New Sonographic Sign for the Prenatal Diagnosis of Anal Atresia.
[So] Source:J Clin Ultrasound;45(3):160-162, 2017 Mar 04.
[Is] ISSN:1097-0096
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We describe a new sonographic sign for the detection of anal atresia in the early midtrimester on transvaginal sonography. In six cases of fetal anal atresia, the finding of a transient, distended, and right-sided sigmoid colon was observed at 13-16 weeks' gestation. Three cases have undergone pregnancy termination due to multiple anomalies. In the other three, the colonic distension resolved by 19 weeks' gestation. In two of these, the finding was isolated, and no other anomalies were detected. In all six cases, anal atresia or cloaca was confirmed on postabortal autopsy or after delivery. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:160-162, 2017.
[Mh] Termos MeSH primário: Anus Imperfurado/diagnóstico por imagem
Anus Imperfurado/embriologia
Ultrassonografia Pré-Natal/métodos
[Mh] Termos MeSH secundário: Canal Anal/diagnóstico por imagem
Canal Anal/embriologia
Feminino
Seres Humanos
Gravidez
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161124
[St] Status:MEDLINE
[do] DOI:10.1002/jcu.22426


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[PMID]:27722897
[Au] Autor:Thomas TT; Teitelbaum DH; Smith EA; Dillman JR; Vellody R; Jarboe MD
[Ad] Endereço:Department of Pediatric Surgery, C. S. Mott Children's Hospital, University of Michigan Health Care System, 1540 East Hospital Drive, SPC 4211, Ann Arbor, MI, 48109-4211, USA.
[Ti] Título:Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience.
[So] Source:Pediatr Surg Int;33(1):15-21, 2017 Jan.
[Is] ISSN:1437-9813
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Surgical procedures for high imperforate anus have ranged from the posterior sagittal anorectoplasty (PSARP) to laparoscopic-assisted anorectoplasty (LAARP). PSARP bisects the sphincter muscle complex, introducing muscle injury and scarring. LAARP uses a straight trocar to traverse an often non-linear sphincter muscle complex. MRI-assisted LAARP (MRI-LAARP) guides the neorectum precisely through the middle of the entire sphincter complex along its trajectory. We present our experience utilizing MRI intraoperatively during LAARP. METHODS/PROCEDURE: Ten children underwent MRI-LAARP procedures. Intraoperative MRI was performed to delineate the sphincter complex, and to guide the advancement of an MRI-compatible needle through the center of the complex from skin to the peritoneal cavity. The remainder of the procedure was completed using the standard LAARP technique. RESULTS: All had successful MRI needle placement through the sphincter complex. Nine patients had successful laparoscopic pull-through procedures; one was converted to open due to severe intraperitoneal adhesions. Postoperative stay averaged 5.4 ± 4.4 days. Out of the ten patients, one child had mild dehiscence of the anal anastomosis requiring revision 11 days postoperatively. CONCLUSION: The theoretical advantage of the MRI-LAARP is placing the neorectum through the entire sphincter complex without transecting the muscle. Follow-up of these patients shows good short-term results; however, long-term follow-up will be needed to best assess sphincter and bowel function.
[Mh] Termos MeSH primário: Canal Anal/cirurgia
Anus Imperfurado/cirurgia
Laparoscopia/métodos
Imagem por Ressonância Magnética/métodos
Procedimentos Cirúrgicos Reconstrutivos/métodos
Reto/cirurgia
Cirurgia Assistida por Computador/métodos
[Mh] Termos MeSH secundário: Canal Anal/diagnóstico por imagem
Anus Imperfurado/diagnóstico
Feminino
Seres Humanos
Lactente
Masculino
Cavidade Peritoneal
Reto/diagnóstico por imagem
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161011
[St] Status:MEDLINE
[do] DOI:10.1007/s00383-016-3995-x


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[PMID]:27160889
[Au] Autor:Mallmann MR; Reutter H; Müller AM; Geipel A; Berg C; Gembruch U
[Ad] Endereço:Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
[Ti] Título:Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases.
[So] Source:Fetal Diagn Ther;41(1):66-70, 2017.
[Is] ISSN:1421-9964
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations. METHODS: In this study, we present the prenatal findings in a series of 12 cases. RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery. Additional malformations included hydrocephalus, hypertelorism, aplasia of the gall bladder, heart defects and kidney malformations. All karyotyped fetuses (11/11) showed a normal karyotype. CONCLUSIONS: These findings illustrate the spectrum of disease in prenatal diagnosis.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico por imagem
Anus Imperfurado/diagnóstico por imagem
Hérnia Umbilical/diagnóstico por imagem
Escoliose/diagnóstico por imagem
Anormalidades Urogenitais/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Anus Imperfurado/complicações
Anus Imperfurado/genética
Feminino
Hérnia Umbilical/complicações
Hérnia Umbilical/genética
Seres Humanos
Cariótipo
Masculino
Gravidez
Estudos Retrospectivos
Escoliose/complicações
Escoliose/genética
Anormalidades Urogenitais/complicações
Anormalidades Urogenitais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170227
[Lr] Data última revisão:
170227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE
[do] DOI:10.1159/000446108


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[PMID]:27755235
[Au] Autor:El Mansoury J; Mbekeani JN
[Ad] Endereço:*MD, PhD †MD, FRCS, FRCOphth Department of Ophthalmology, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia (JEM); Department of Surgery, North Bronx Health Network, Bronx, New York (JNM); and Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine of Yeshiva University, Bronx, New York (JNM).
[Ti] Título:Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.
[So] Source:Optom Vis Sci;93(11):1449-1453, 2016 Nov.
[Is] ISSN:1538-9235
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag. A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome was made. CONCLUSIONS: Growth of a limbal dermoid helped identify oculo-auriculo-vertebral spectrum, a disorder with a wide phenotypic spectrum that can affect all systems. Early recognition and syndromic designation is imperative; full pediatric survey of suspected cases will help rule out the life-threatening manifestations of the spectrum.
[Mh] Termos MeSH primário: Síndrome de Goldenhar/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Anus Imperfurado/complicações
Doenças da Córnea/diagnóstico
Cisto Dermoide/diagnóstico
Seres Humanos
Limbo da Córnea/patologia
Masculino
Escoliose/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161027
[St] Status:MEDLINE


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[PMID]:27610944
[Au] Autor:Nagaraj UD; Bierbrauer KS; Peiro JL; Kline-Fath BM
[Ad] Endereço:1 Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229-3026.
[Ti] Título:Differentiating Closed Versus Open Spinal Dysraphisms on Fetal MRI.
[So] Source:AJR Am J Roentgenol;207(6):1316-1323, 2016 Dec.
[Is] ISSN:1546-3141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The purpose of this study is to identify differences in findings between open and closed spinal dysraphisms seen on fetal MR images. MATERIALS AND METHODS: A single-institution retrospective analysis of fetal MR images for spinal dysraphism was performed. Postnatal images and clinical and operative reports were reviewed. RESULTS: Sixteen fetuses with postnatally confirmed closed spinal dysraphisms were included. Of these, 25% (4/16) had posterior fossa anomalies, 12.5% (2/16) had ventriculomegaly, and 37.5% (6/16) had OEIS (omphalocele, exstrophy, imperforate anus, and spinal defects) complex. Of 90 fetuses with postnatally confirmed open spinal dysraphism, 95.6% (86/90) had posterior fossa anomalies, 85.6% (77/90) had ventriculomegaly, and none had OEIS complex. Twenty fetuses with open spinal dysraphism were randomly selected to compare with fetuses with closed spinal dysraphisms. Continuity of the epidermal and subcutaneous tissues with the sac wall on fetal MR images was seen in 93.8% (15/16) of patients with closed spinal dysraphisms, as opposed to 5% (1/20) of patients with open spinal dysraphisms. The mean (± SD) sac wall thickness was less in open (0.7 ± 0.6 mm) than closed (2.9 ± 1.3 mm; p < 0.001) spinal dysraphism. None of the fetuses had T1-hyperintense fat within the defect. CONCLUSION: On fetal MR images, closed spinal dysraphisms tend to have a sac wall in continuity with the epidermal and subcutaneous tissues, a thicker sac wall, fewer posterior fossa anomalies, and high association with OEIS complex.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico por imagem
Anus Imperfurado/diagnóstico por imagem
Hérnia Umbilical/diagnóstico por imagem
Hidrocefalia/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
Diagnóstico Pré-Natal/métodos
Escoliose/diagnóstico por imagem
Disrafismo Espinal/diagnóstico por imagem
Anormalidades Urogenitais/diagnóstico por imagem
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/patologia
Anus Imperfurado/patologia
Diagnóstico Diferencial
Feminino
Hérnia Umbilical/patologia
Seres Humanos
Hidrocefalia/patologia
Masculino
Estudos Retrospectivos
Escoliose/patologia
Disrafismo Espinal/epidemiologia
Disrafismo Espinal/patologia
Anormalidades Urogenitais/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160910
[St] Status:MEDLINE



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