Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Clinical Tools to Assess Functional Capacity During Risk Assessment Before Elective Noncardiac Surgery : A Scoping Review.

Background: Functional capacity is critical to preoperative risk assessment, yet guidance on its measurement in clinical practice remains lacking.

Purpose: To identify functional capacity assessment tools studied before surgery and characterize the extent of evidence regarding performance, including in populations where assessment is confounded by noncardiopulmonary reasons.

Data Sources: MEDLINE, EMBASE, and EBM Reviews (until July 2024).

Clinical tools to assess functional capacity before elective non-cardiac surgery: a scoping review protocol.

Objective: The objective of this scoping review is to map the evidence on clinical tools to assess functional capacity prior to elective non-cardiac surgery.

Introduction: Functional capacity is a strong prognostic indicator before surgery, which can be used to identify patients at elevated risk of postoperative complications, yet, there is no consensus on which clinical tools should be used to assess functional capacity in patients prior to non-cardiac surgery.

Inclusion Criteria: This review will consider any randomized or non-randomized studies that evaluate the performance of a functional capacity assessment tool in adults (≥18 years) prior to non-cardiac surgery.

Autoimmune pancytopenia occurring late after simultaneous pancreas and kidney transplantation.

A 35-year-old woman presented with a widespread petechial rash and pancytopenia. She underwent simultaneous pancreas and kidney transplantation for type 1 diabetes 8 years previously followed by a renal transplant 1 year prior to presentation, and was taking tacrolimus as long-term immunosuppression. The full blood count showed haemoglobin 97 g/L, platelet count 2×10/L and neutrophil count 0.

Socio-demographic characteristics associated with hospitalization for sepsis among adults in Canada: a Census-linked cohort study.

Purpose: Sepsis is a considerable health system burden. Population-based epidemiological surveillance of sepsis is limited to basic data available in administrative databases. We sought to determine if routinely collected Census data, linked to hospitalization data, can provide a broad socio-demographic profile of patients admitted to Canadian hospitals with sepsis.