RESUMO
IMPORTANCE: Identification of geographic population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies. OBJECTIVE: To report disease-causing variants and their detailed phenotype in patients with bilateral congenital cataract from a single center in Switzerland and thereby draw a genetic map and perform a genotype-phenotype comparison of this cohort. DESIGN, SETTING, AND PARTICIPANTS: This clinical and molecular-genetic cohort study took place through the collaboration of the Department of Ophthalmology at the University Hospital Zurich and the Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. Thirty-seven patients from 25 families with different types of bilateral congenital cataract were included. All participating family members received a comprehensive eye examination. Whole exome sequencing was performed in the index patients, followed by a filtering process to detect possible disease-associated variants in genes previously described in association with congenital cataract. Probable disease-causing variants were confirmed by Sanger sequencing in available family members. All data were collected from January 2018 to June 2020, and the molecular-genetic analyses were performed from January 2019 to July 2020. MAIN OUTCOMES AND MEASURES: Identification of the underlying genetic causes of bilateral congenital cataract, including novel disease-causing variants and phenotype correlation. RESULTS: Among the 37 patients (18 [49%] male and 19 [51%] female; mean [SD] age, 17.3 [15.9] years) from 25 families, pathogenic variants were detected in 20 families (80% detection rate), which included 13 novel variants in the following genes: BCOR, COL4A1, CRYBA2, CRYBB2, CRYGC, CRYGS, GJA3, MAF, NHS, and WFS1. Putative disease-causing variants were identified in 14 of 20 families (70%) as isolated cases and in 6 of 20 families (30%) with syndromic cases. A recessive variant in the CRYBB2 gene in a consanguineous family with 2 affected siblings showing a nuclear and sutural cataract was reported in contrast to previously published reports. In addition, the effect on splicing in a minigene assay of a novel splice site variant in the NHS gene (c.[719-2A>G]) supported the pathogenicity of this variant. CONCLUSIONS AND RELEVANCE: This study emphasizes the importance of genetic testing of congenital cataracts. Known dominant genes need to be considered for recessive inheritance patterns. Syndromic types of cataract may be underdiagnosed in patients with mild systemic features.
Assuntos
Catarata , Catarata/congênito , Estudos de Coortes , Feminino , Testes Genéticos , Humanos , Masculino , Linhagem , Suíça/epidemiologiaRESUMO
PURPOSE: Abdominal compartment syndrome (ACS) in children results in 100% mortality if left untreated. Decompressive laparotomy (DL) is the only effective treatment if conservative medical therapies have failed. This study aims to determine the incidence of ACS among pediatric patients who underwent an emergency laparotomy (EL), to describe the effect of DL on clinical and laboratory parameters and, to make a better prediction on fatal outcome, to analyze variables and their association with mortality. METHODS: This retrospective study includes 418 children up to the age of 16 years who underwent EL between January 2010 and December 2018 at our tertiary pediatric referral center. ACS was defined according to the latest guidelines of the World Society of the Abdominal Compartment Syndrome. RESULTS: Fourteen patients had emergency DL for ACS. 6 h preoperatively; median intra-abdominal pressure (IAP) and abdominal perfusion pressure (APP) were 22.5 mmHg and 29 mmHg, respectively. After DL, IAP decreased and APP increased, both by an average of 60%. Six patients survived, eight patients had a fatal outcome, resulting in a mortality of 57%. An age under 1 year, weight under the 3rd percentile, an open abdomen treatment, an intestinal resection and an elevated serum lactate > 1.8 mmol/L were associated with an increased relative risk of death. CONCLUSIONS: Improving the outcome in pediatric patients with ACS by removing or attenuating risk factors is difficult. This emphasizes the need for early diagnosis and prompt DL once the diagnosis of ACS is made.
Assuntos
Descompressão Cirúrgica/métodos , Serviço Hospitalar de Emergência , Hipertensão Intra-Abdominal/cirurgia , Laparotomia/métodos , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Hipertensão Intra-Abdominal/epidemiologia , Masculino , Estudos Retrospectivos , Fatores de Risco , Suíça/epidemiologia , Resultado do TratamentoRESUMO
BACKGROUND/PURPOSE: Malrotation with a common mesentery is the classical pathology allowing midgut volvulus to occur. There are only a few reports of small bowel volvulus without malrotation or other pathology triggering volvulation. We describe three cases of small bowel volvulus in very premature newborns with a perfectly normal intra-abdominal anatomy and focus on the question, what might have set off volvulation. METHODS: In 2005 to 2008, three patients developed small bowel volvulus without any underlying pathology. Retrospective patient chart review was performed with special focus on clinical presentation, preoperative management, intraoperative findings, and potential causative explanations. Mean follow-up period was 46 months. RESULTS: All patients were born between 27 and 31 weeks (mean 28 weeks) with a birth weight between 800 and 1,000 g (mean 887 g). They presented with an almost identical pattern of symptoms including sudden abdominal distension, abdominal tenderness, erythema of the abdominal wall, high gastric residuals, and radiographic signs of ileus. All of them were treated with intensive abdominal massage or pelvic rotation to improve bowel movement before becoming symptomatic. CONCLUSIONS: Properistaltic maneuvers including abdominal massage and pelvic rotation may cause what we term a "manufactured" volvulus in very premature newborns. Thus, this practice was stopped.
Assuntos
Volvo Intestinal/cirurgia , Intestino Delgado/cirurgia , Massagem/efeitos adversos , Abdome , Anastomose Cirúrgica/métodos , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Volvo Intestinal/diagnóstico , Volvo Intestinal/etiologia , Masculino , Radiografia Abdominal , Estudos Retrospectivos , Fatores de TempoAssuntos
Neoplasias Ósseas/cirurgia , Craniotomia/métodos , Fibroma Ossificante/cirurgia , Testa/cirurgia , Neoplasias Ósseas/diagnóstico , Criança , Feminino , Fibroma Ossificante/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Próteses e Implantes , Procedimentos de Cirurgia Plástica/métodos , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To report our experience with ureteral obstruction after injection of dextranomer/hyaluronic acid copolymer (Dx/Ha) to treat vesicoureteral reflux, and analyze its possible causes, management and outcome. MATERIALS AND METHODS: Retrospective review of patients undergoing injection of Dx/Ha. The charts of patients with clinically relevant ureteral obstruction were evaluated for indications, prior interventions, technique of injection and volume injected. Video recordings obtained during injection were analyzed to detect possible technical errors. RESULTS: Fifty-four patients (87 ureters) were treated with Dx/Ha injection in a 5-year period. Five ureters (5.7%) in five patients (9.3%) developed significant ureteral obstruction requiring intervention. Manifestations of obstruction included pain in two patients, urinary tract infections in one and loss of function in one. Increased serum creatinine was observed in a patient with a transplanted kidney. Four obstructions resolved spontaneously (two after percutaneous nephrostomy, two after placement of a ureteral stent) and one required reimplantation. Review of the videos did not reveal any deviation from the usual technique. The volumes injected in the obstructed cases (0.7-1.2 ml) were in the usual range. CONCLUSIONS: In this series, the incidence of post Dx/Ha ureteral obstruction was higher than previously reported. Although 4/5 cases resolved spontaneously, they required drainage to relieve symptoms or to improve renal function. Surgeons need to be aware of this complication and include its possible occurrence in the informed consent obtained prior to injection.