Base de dados : MEDLINE
Pesquisa : C11.250.060 [Categoria DeCS]
Referências encontradas : 595 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 60 ir para página                         

  1 / 595 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29217025
[Au] Autor:Sannan NS; Gregory-Evans CY; Lyons CJ; Lehman AM; Langlois S; Warner SJ; Zakrzewski H; Gregory-Evans K
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, B.C.
[Ti] Título:Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
[So] Source:Can J Ophthalmol;52(6):570-577, 2017 Dec.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed. Foveal hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was performed and chromosomal 11p anomalies investigated. Candidate gene and single-nucleotide polymorphism sequencing in genes functionally related to PAX6 were also studied. RESULTS: Best corrected visual acuities in the cohort ranged from 0.0 logMAR to no light perception. Total absence of iris tissue was seen in the majority (42 of 66 eyes). In those in whom SD-OCT was possible, foveal hypoplasia was seen in the majority (45 of 56 eyes, 80%). Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region. CONCLUSIONS: The number of PAX6 mutations associated with aniridia continues to increase. Variable foveal architecture despite nearly identical anterior segment disease in 4 participants with an Ex9 ELP4-Ex4 DCDC1 deletion suggested that molecular cues causing variation in disease in the posterior segment differ from those at play in the anterior segment. Results in 3 patients without identifiable PAX6 mutations and a review of the literature suggest that such cases be described as phenocopies rather than actual cases of the syndrome of aniridia.
[Mh] Termos MeSH primário: Aniridia/diagnóstico
Aniridia/genética
Fóvea Central/anormalidades
Mutação
Fator de Transcrição PAX6/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Deleção Cromossômica
Cromossomos Humanos Par 11/genética
Estudos de Coortes
Feminino
Amplificação de Genes
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Fenótipo
Estudos Prospectivos
Reação em Cadeia da Polimerase em Tempo Real
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  2 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28760551
[Au] Autor:Miao Q; Ping X; Tang X; Zhang L; Zhang X; Cheng Y; Shentu X
[Ad] Endereço:Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China; Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, Zhejiang Province, China.
[Ti] Título:Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
[So] Source:Gene;630:44-48, 2017 Sep 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic sequences of the PAX6 gene (NG_008679.1) were analyzed and effects of variants on splicing were assessed in silico and in vitro using exon trapping assay with pET01. The donor site (c.1183+1G>A) mutation identified in family 1 would result in a complete skipping of exon 12 and cause a frameshift and run-on translation past the normal termination codon, creating an enlarged PAX6 protein with extended COOH-terminal domain. Novel c.1033-1_1033delinsCT mutation was detected in family 2. This mutation provoked both complete exon 12 skipping and partial skipping of exon 12 deleting 7bp. This would lead to a frameshift translation and the introduction of pre-mature termination code, which resulted in severely truncated PAX6 protein likely to be degraded. Our study further expands the spectrum of genetic pathology underlying PAX6.
[Mh] Termos MeSH primário: Aniridia/genética
Mutação
Fator de Transcrição PAX6/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Adulto
Aniridia/patologia
Criança
Feminino
Células HEK293
Seres Humanos
Masculino
Fator de Transcrição PAX6/metabolismo
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170802
[St] Status:MEDLINE


  3 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28698159
[Au] Autor:Dentici ML; Barresi S; Nardella M; Bellacchio E; Alfieri P; Bruselles A; Pantaleoni F; Danieli A; Iarossi G; Cappa M; Bertini E; Tartaglia M; Zanni G
[Ad] Endereço:Medical Genetics, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[Ti] Título:Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
[So] Source:Gene;628:141-145, 2017 Sep 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2+ homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia. Dominant or recessive ITPR1 mutations have been recently associated with this form of syndromic ataxia. We performed next generation sequencing in two simplex families with Gillespie syndrome and identified de novo pathological mutations localized in the C-terminal channel domain of ITPR1 in both patients: a recurrent deletion (p.Lys2596del) and a novel missense mutation (p.Asn2576Ile) close to a point of constriction in the Ca pore. Our study expands the mutational spectrum of ITPR1 and confirms that ITPR1 screening should be implemented in patients with congenital cerebellar ataxia with or without iris hypoplasia.
[Mh] Termos MeSH primário: Aniridia/genética
Ataxia Cerebelar/genética
Receptores de Inositol 1,4,5-Trifosfato/genética
Deficiência Intelectual/genética
Mutação
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Análise Mutacional de DNA
Feminino
Deleção de Genes
Seres Humanos
Mutação de Sentido Incorreto
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ITPR1 protein, human); 0 (Inositol 1,4,5-Trisphosphate Receptors)
[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:170713
[St] Status:MEDLINE


  4 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28676040
[Au] Autor:Wang JD; Zhang JS; Xiong Y; Li J; Li XX; Liu X; Zhao J; Tsai FF; Vishal J; You QS; Huang Y; Wan XH
[Ad] Endereço:Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital of Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing, 100005, China.
[Ti] Título:Congenital aniridia with cataract: case series.
[So] Source:BMC Ophthalmol;17(1):115, 2017 Jul 04.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery. RESULTS: A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery. CONCLUSIONS: Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. TRIAL REGISTRATION: ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).
[Mh] Termos MeSH primário: Aniridia/diagnóstico
Catarata/complicações
Lentes Intraoculares
Facoemulsificação/métodos
Acuidade Visual
[Mh] Termos MeSH secundário: Adolescente
Adulto
Aniridia/complicações
Aniridia/cirurgia
Catarata/diagnóstico
Catarata/fisiopatologia
Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Meia-Idade
Estudos Prospectivos
Tomografia de Coerência Óptica
Adulto Jovem
[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:170706
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-017-0503-6


  5 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28662941
[Au] Autor:Muzychuk AK; Durr GM; Shine JJ; Robert MC; Harissi-Dagher M
[Ad] Endereço:Department of Ophthalmology, Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame, Montreal, Quebec, Canada. Electronic address: muzychuk@gmail.com.
[Ti] Título:No Light Perception Outcomes Following Boston Keratoprosthesis Type 1 Surgery.
[So] Source:Am J Ophthalmol;181:46-54, 2017 Sep.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To determine the incidence rate, principal causes, and clinical course of eyes developing no light perception (NLP) visual acuity (VA) following Boston Keratoprosthesis (B-KPro) type 1 surgery. Secondary objectives include determining the incidence rate, relative risk (RR), and survival probability with respect to NLP outcomes among eyes with congenital aniridia. DESIGN: Retrospective, interventional case series. SUBJECTS: All patients undergoing B-KPro type 1 surgery between October 2008 and June 2016 by a single surgeon at CHUM - Hôpital Notre-Dame. METHODS: Records of patients having undergone B-KPro implantation were reviewed. Eyes with a final outcome of NLP were further reviewed to determine best recorded postoperative VA, time to NLP onset, clinical course, and principal cause. Descriptive statistics, incidence rates, Kaplan-Meier survival curves, and the RR of NLP outcomes among eyes with aniridia were determined. Statistical significance was defined as P < .05. RESULTS: Records of 119 patients were included, with an average follow-up of 49.1 ± 26.8 months postoperatively. Nineteen eyes had a final outcome of NLP, representing 16.0%. The incidence rate of NLP was 0.04 cases per eye-year of follow-up. The most common principal causes were inoperable retinal detachment (n = 7, 36.8%), terminal glaucoma (n = 6, 31.6%), and carrier graft melt-related complications (n = 5, 26.3%). The RR of developing NLP among eyes with aniridia was 3.04 (P = .01). CONCLUSIONS: No light perception is a devastating but uncommon outcome of B-KPro surgery. Patients with aniridia seem to be at increased risk. In spite of all available medical and surgical interventions, some eyes may still suffer this outcome.
[Mh] Termos MeSH primário: Órgãos Artificiais/efeitos adversos
Cegueira/epidemiologia
Córnea
Próteses e Implantes/efeitos adversos
Implante de Prótese/efeitos adversos
[Mh] Termos MeSH secundário: Adulto
Idoso
Aniridia/complicações
Cegueira/etiologia
Feminino
Seguimentos
Glaucoma/complicações
Seres Humanos
Incidência
Estimativa de Kaplan-Meier
Masculino
Meia-Idade
Descolamento Retiniano/complicações
Estudos Retrospectivos
Fatores de Risco
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE


  6 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28598868
[Au] Autor:Lim HT; Kim DH; Kim H
[Ad] Endereço:aDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea bDepartment of Ophthalmology, Kim's Eye Hospital, College of Medicine, Konyang University, Nonsan, Korea.
[Ti] Título:PAX6 aniridia syndrome: clinics, genetics, and therapeutics.
[So] Source:Curr Opin Ophthalmol;28(5):436-447, 2017 Sep.
[Is] ISSN:1531-7021
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia. Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia. Recent improvement in genetic testing technique will help more rapid and precise diagnosis for aniridia. A promising therapeutic approach called nonsense suppression therapy has been introduced and successfully used in an animal model. SUMMARY: Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.
[Mh] Termos MeSH primário: Aniridia
Técnicas de Diagnóstico Oftalmológico
Gerenciamento Clínico
Mutação
Fator de Transcrição PAX6/genética
[Mh] Termos MeSH secundário: Aniridia/diagnóstico
Aniridia/genética
Aniridia/terapia
Testes Genéticos/métodos
Seres Humanos
Fator de Transcrição PAX6/metabolismo
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170610
[St] Status:MEDLINE
[do] DOI:10.1097/ICU.0000000000000405


  7 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28510772
[Au] Autor:Balekudaru S; Sankaranarayanan N; Agarkar S
[Ti] Título:Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia.
[So] Source:J Pediatr Ophthalmol Strabismus;54(4):250-255, 2017 Jul 01.
[Is] ISSN:1938-2405
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To assess the prevalence, incidence, and risk factors for the development of glaucoma in patients with aniridia. METHODS: Retrospective analysis of case records of patients diagnosed as having congenital aniridia between January 1986 and December 2011 was performed. Patients with a follow-up of more than 12 months were included. RESULTS: Ninety-one patients (180 eyes) with the diagnosis of aniridia were identified from the case records. Two eyes were excluded from the final analysis; one had developed phthisis and the other had been enucleated. Seventy-four patients (81.3%) were younger than 18 years at initial presentation. The prevalence of glaucoma at presentation was 28.8%, which could be further categorized as ocular hypertension in 19 eyes (10.5%) and glaucoma in 33 eyes (18.3%). Thirty-one eyes (28.4%) developed elevated intraocular pressure (IOP) during the follow-up period: ocular hypertension in 23 eyes (17.9%) and glaucoma in 8 eyes (6.25%). The mean IOP at the time of diagnosis was 33.9 ± 8.6 mm Hg (range: 24 to 60 mm Hg). The mean duration of follow-up was 8.1 ± 5.7 years (range: 1 to 28 years). The cumulative probability of developing elevated IOP was 4% at the end of 8 years of follow-up; this increased to 88% at the end of 28 years of follow-up. Univariate logistic regression analysis identified higher baseline IOP (odds ratio [OR]: 1.2; 95% confidence interval [CI]: 1.2 to 1.4) and limbal stem cell deficiency (OR: 2.8; 95% CI: 1.4 to 5.6) as significant risk factors for the development of elevated IOP. Higher baseline IOP remained significant on multivariate analysis (OR: 1.2; 95% CI: 1.2 to 1.4). CONCLUSIONS: Glaucoma occurs in a substantial proportion of patients with aniridia. Eyes with increased IOP at baseline are at a higher risk. [J Pediatr Ophthalmol Strabismus. 2017;54(4):250-255.].
[Mh] Termos MeSH primário: Aniridia/complicações
Glaucoma/epidemiologia
Pressão Intraocular/fisiologia
Medição de Risco/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Aniridia/diagnóstico
Aniridia/epidemiologia
Criança
Pré-Escolar
Feminino
Seguimentos
Glaucoma/etiologia
Glaucoma/fisiopatologia
Gonioscopia
Seres Humanos
Incidência
Índia/epidemiologia
Lactente
Recém-Nascido
Masculino
Meia-Idade
Prevalência
Estudos Retrospectivos
Fatores de Risco
Tonometria Ocular
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE
[do] DOI:10.3928/01913913-20170322-01


  8 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28300742
[Au] Autor:Kim WJ; Kim JH; Cho NC
[Ad] Endereço:Department of Ophthalmology, Chonbuk National University Medical School and Hospital, Chonbuk National University, Jeonju, Jeonbuk, South Korea.
[Ti] Título:Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.
[So] Source:Indian J Ophthalmol;65(1):55-56, 2017 Jan.
[Is] ISSN:1998-3689
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now.
[Mh] Termos MeSH primário: Aniridia/genética
DNA/genética
Ectrópio/genética
Fóvea Central/patologia
Iris/anormalidades
Mutação
Fator de Transcrição PAX6/genética
[Mh] Termos MeSH secundário: Adulto
Aniridia/diagnóstico
Análise Mutacional de DNA
Ectrópio/congênito
Ectrópio/diagnóstico
Feminino
Angiofluoresceinografia
Fundo de Olho
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 9007-49-2 (DNA)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170809
[Lr] Data última revisão:
170809
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170317
[St] Status:MEDLINE
[do] DOI:10.4103/0301-4738.202305


  9 / 595 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28231309
[Au] Autor:Blanco-Kelly F; Palomares M; Vallespín E; Villaverde C; Martín-Arenas R; Vélez-Monsalve C; Lorda-Sánchez I; Nevado J; Trujillo-Tiebas MJ; Lapunzina P; Ayuso C; Corton M
[Ad] Endereço:Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
[Ti] Título:Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
[So] Source:PLoS One;12(2):e0172363, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus. Our approach increased the detection rate in a Spanish cohort of 38 patients with aniridia, WAGR syndrome and other related ocular malformations, allowing to characterize four undiagnosed aniridia cases, and to confirm MLPA findings in four additional patients. For all patients, breakpoints were accurately established and a contiguous deletion syndrome, involving a large number of genes, was identified in three patients. Moreover, we identified novel microdeletions affecting 3' PAX6 regulatory regions in three families with isolated aniridia. This tool represents a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a more accurate CNVs detection, as well as a better delineation of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns and those without defects in PAX6 after diagnostic screening.
[Mh] Termos MeSH primário: Aniridia/genética
Cromossomos Humanos Par 11/genética
Hibridização Genômica Comparativa/métodos
Síndrome WAGR/genética
[Mh] Termos MeSH secundário: Deleção Cromossômica
Feminino
Seres Humanos
Masculino
Análise de Sequência com Séries de Oligonucleotídeos/métodos
Fator de Transcrição PAX6/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170224
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0172363


  10 / 595 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
[PMID]:27829389
[Au] Autor:Firl KC; Montezuma SR
[Ad] Endereço:Department of Ophthalmology and Visual Neurosciences, University of Minnesota, 420 Delaware Street SE, MMC 493, Minneapolis, MN, 55455, USA. firlx008@umn.edu.
[Ti] Título:Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report.
[So] Source:BMC Ophthalmol;16(1):197, 2016 Nov 09.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Post-operative endophthalmitis is a serious complication of intraocular surgery which may present acutely or chronically. Chronic post-operative endophthalmitis is characterized by decreased visual acuity, mild pain, and low-grade uveitis several weeks or months after intraocular surgery which may be responsive to corticosteroids, but recur upon tapering. Low virulence organisms such as Propionibacterium acnes are the most common culprit organisms, and treatment most often consists of both intravitreal antibiotic injections and surgery. Aniridia is a condition defined by total or partial loss of the iris and leads to decreased visual quality marked by glare and photophobia. Treatment of complex or severe cases of traumatic aniridia in which surgical repair is difficult may consist of implantation of iris prostheses, devices designed to reduce symptoms of aniridia. Though chronic, post-operative endophthalmitis has been associated with most intraocular surgeries including intraocular lens implantation after cataract removal, it has never been described in a patient with an iris prosthesis. CASE PRESENTATION: In this case report, we describe the case of a 49 year old, male construction worker with traumatic aniridia who experienced chronic, recurrent low-grade intraocular inflammation and irritation for months after implantation of the Ophtec 311 prosthetic iris. Symptoms and signs of inflammation improved temporarily with sub-Tenon's capsule triamcinolone injections. Ultimately after more than 2 post-operative years, the iris prosthesis was explanted, and intravitreal cultures showed P. acnes growth after 5 days. Intravitreal antibiotics treated the infection successfully. CONCLUSIONS: To our knowledge, this is the first reported case of chronic, post-operative endophthalmitis in a patient with an iris prosthesis. Chronic, post-operative endophthalmitis may be a difficult to identify in the context of traumatic aniridia and iris prosthesis implantation due to other potential etiologies of chronic intraocular inflammation such as implant-induced chafing. Clinicians should suspect chronic, post-operative endophthalmitis in any case of recurrent, low-grade intraocular inflammation.
[Mh] Termos MeSH primário: Aniridia
Endoftalmite/etiologia
Infecções por Bactérias Gram-Positivas/etiologia
Implante de Prótese/efeitos adversos
[Mh] Termos MeSH secundário: Aniridia/etiologia
Aniridia/cirurgia
Remoção de Dispositivo
Traumatismos Oculares/cirurgia
Seres Humanos
Iris/cirurgia
Masculino
Meia-Idade
Complicações Pós-Operatórias/microbiologia
Propionibacterium acnes/isolamento & purificação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161111
[St] Status:MEDLINE



página 1 de 60 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde