Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic disturbances, including postprandial hypoglycemia, lactic acidosis, electrolyte disturbance, and liver/kidney dysfunction. The clinical presentation varies depending on the age of exposure and the load of fructose.

Germ cell tumour of the trachea.

A 28-year-old man presented with stridor and dyspnoea. Imaging showed a tracheal mass with severe narrowing of the subglottic airway. Histopathology was consistent with non-seminomatous germ cell tumour.

CURB-65 and SMRT-CO in the prediction of early transfers to the intensive care unit among patients with community-acquired pneumonia initially admitted to a general ward.

Background: No study has assessed the ability of pneumonia severity scores to identify the risk for early intensive care unit (ICU) transfer in patients with community-acquired pneumonia (CAP) admitted to general wards (GW). We aimed to compare the ability of CURB-65 (confusion, urea level, respiratory rate, blood pressure, and age ≥65 years) and SMRT-CO (systolic blood pressure, multilobar chest radiography involvement, respiratory rate, tachycardia, confusion, and oxygenation) scores to predict early ICU transfers in these patients.

Design: Retrospective, case-control study.