Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Purpose: Developmentally regulated Guanosine-5'-triphosphate-binding protein 1 (DRG1) is a highly conserved member of a class of GTPases implicated in translation. Although the expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated in fundamental cellular processes, no pathogenic germline variants have yet been identified. Here, we characterize the clinical and biochemical consequences of DRG1 variants.

A retrospective study examining the clinical significance of testing respiratory panels in children who presented to a tertiary hospital in 2019.

Respiratory tract infections are a leading cause of hospital visits in the paediatric population and carry significant associated morbidity and mortality in this population. The introduction of respiratory panel testing has been said to guide clinicians in the overall management of patients. We conducted a retrospective study examining all respiratory panels carried out in our hospital during 2019 on paediatric patients.

MEDICAL PRACTICE IN CHILDREN PRESENTING FEVER WITH PETECHIAL RASH TO AN EMERGENCY DEPARTMENT.

Introduction: The association of fever and petechiae in children is one of the most alarming findings for a paediatrician. To quickly distinguish between benign and life-threatening conditions is challenging in many cases. We aimed to evaluate the clinical practice of children presenting with fever and petechiae as initial symptoms.

Transcatheter double stent implantation for treatment of middle aortic coarctation syndrome.

A 13-year-old boy presented with severe systemic hypertension. His upper limb blood pressure measured 190/100 mm Hg and lower limb blood pressure measured 98/64 mm Hg. The brachial pulses were bounding and femoral pulses were not palpable.