Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non-ambulatory and nonverbal. The most observed substitution affects the p.Ile80 residue encoded in exon 6, with 28% of patients carrying a variant at this residue. Dystonia and growth delay were observed more frequently in patients carrying variants in this residue, suggesting a potential genotype-phenotype correlation. In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1. In addition, cutaneous mastocytosis, reported once before in a patient with a GNB1 variant, was observed in three additional patients, providing further evidence for an association to GNB1. We will review clinical and molecular data of these new cases and all previously reported cases to further define the phenotype and establish possible genotype-phenotype correlations.

Validation of a form for assessing the professional performance of residents in cardiology by nurses.

BACKGROUND: There is a strong need for transformation in our assessment systems from one that evaluates performance based on levels of training to another that focuses on professional competence to meet the expected requirements for the practice of the profession. The aim of this study is to validate for the first time a Spanish version of a new tool for assessing the professional performance of residents by nurses newly developed in the Ottawa Hospital (O-RON). MATERIALS AND METHODS: After the author's written authorization, the original O-RON form was translated and cross-culturally adapted. Then we conducted a prospective observational study in two cardiology centers in the city of Buenos Aires. The validity of the tools was evaluated by the ability of the instrument to discriminate the level of experience of the residents according to their post-graduate year level. Data is expressed as percentages and frequencies of the qualifications obtained in the different questions. The chi-square test was used to assess the significance of the differences obtained. A generalizability test was used to evaluate reliability. Feasibility was defined as a minimum of 4 assessments per resident per evaluation round. Satisfaction of evaluators was assessed using a survey with a 10-point scale designed by the authors. RESULTS: A total of 838 evaluations were performed. Regarding validity, the 15-item form could significantly discriminate the experience of the residents according to their postgraduate year level (P < 0,005). Thirty evaluations per resident are required to obtain reliable results. The tool is feasible to implement and an average of 4.55 assessment per resident per evaluation round were achieved throughout the entire experience. This value remained stable during the 8 rounds (1st: 4.65; 2nd: 4.34; 3rd: 4.47; 4th: 6.17; 5th: 4.56; 6th: 4.08; 7th: 4.36; 8th: 3.91). The levels of satisfaction among the evaluators were acceptable. CONCLUSION: The Spanish version of the O-RON form can provide residents with a valuable source of feedback from the eyes of nurses on important aspects of their professional training. This tool, positively assessed by the raters, significantly discriminates residents' experience. Its implementation is feasible in our environment, and it is user-friendly, though it requires a considerable number of assessments to achieve high reliability.