Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.

Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics.

Subjects And Methods: The study included all patients with a clinical presentation of WS following up between 1991 and 2022 with early-onset diabetes mellitus and other WS signs and symptoms. A retrospective analysis was conducted, including patients' age, sex, consanguinity, age at symptom onset, diagnosis of diabetes mellitus, optic atrophy, diabetes insipidus, neurological and psychiatric disorders, hearing loss, urinary disorders, hypogonadism, and molecular analysis.

Continuous glucose monitoring to evaluate glycaemic abnormalities in cystic fibrosis.

Objective: This study aimed to determine the glycaemic profile of patients with cystic fibrosis using a continuous glucose monitoring system (CGMS), and to evaluate the associations of glycaemic abnormalities with sex, age, pubertal stage, gene mutations, nutritional status, lung function, oral glucose tolerance test, glycated haemoglobin concentrations, fasting insulin concentrations, C peptide concentrations and exocrine pancreatic function.

Study Design: This observational study evaluated CGMS data from 39 patients with cystic fibrosis who were treated at a referral centre. The patients were 10-19.

Insulin therapy in patients with cystic fibrosis in the pre-diabetes stage: a systematic review.

Objective: To elucidate whether insulin is effective or not in patients with cystic fibrosis before the diabetes mellitus phase.

Data Source: The study was performed according to the Prisma method between August and September 2014, using the PubMed, Embase, Lilacs and SciELO databases. Prospective studies published in English, Portuguese and Spanish from 2002 to 2014, evaluating the effect of insulin on weight parameters, body mass index and pulmonary function in patients with cystic fibrosis, with a mean age of 17.