Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.

Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic acidemia (PA), and their relative abundance would correlate with clinical and biochemical characteristics of the disease.

Methods: We enrolled 5 affected participants from a natural history study of PA (ClinicalTrials.

Indolent infections in patients with hematologic malignancy: A single-center experience screening for tuberculosis and strongyloidiasis prior to cytotoxic therapy in Boston.

Individuals with hematologic malignancy have increased risk of latent tuberculosis infection (LTBI) reactivation and (SS) dissemination. However, screening prior to chemotherapy or corticosteroids is not routine. We conducted a LTBI and SS screening intervention amongst patients with hematologic malignancies.

Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the Gene.

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results in muscle wasting and the replacement of myocytes with fatty or fibrous tissues. In the heart, cardiomyocytes eventually fail and cause fatal cardiomyopathy.

Delivery room dextrose gel for preterm hypoglycaemia (the GEHPPI study): a randomised placebo-controlled trial.

Objective: Early hypoglycaemia at the time of neonatal intensive care unit (NICU) admission is common in very/extreme preterm infants. This study aimed to determine whether buccal dextrose gel in the delivery room (DR) would improve rates of early hypoglycaemia in this population.

Design: Randomised, blinded, placebo-controlled trial.