[Predictors of disability in a cohort with neuromyelitis optica spectrum].

Introduction: Disability in neuromyelitis optica spectrum disorder (NMOSD) is common and can be severe.

Aim: To determine factors associated with increased disability in NMOSD.

Patients And Methods: Observational, analytical, ambispective study in a cohort of patients with NMOSD between January 2015 and July 2021, using a secondary source to review variables and the expanded disability status scale (EDSS) after onset and a primary source, with a telephone survey for the final EDSS and missing data.

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome.

The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature.

[Satisfaction according to health care insurance systems in an emergency department].

Introduction: Health satisfaction is a fundamental measure of the quality of health services. This study aims to validate and analyse the results of a quality of care questionnaire to assess the level of satisfaction of patients attended in the emergency department of a high complexity hospital.

Methods: Observational, cross-sectional study, with a questionnaire designed to assess the quality of service and satisfaction at the end of care in the emergency department.