Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

Eukaryotic translation elongation factor 2 (eEF2), encoded by the gene EEF2, is an essential factor involved in the elongation phase of protein translation. A specific heterozygous missense variant (p.P596H) in EEF2 was originally identified in association with autosomal dominant adult-onset spinocerebellar ataxia-26 (SCA26).

Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.

Objective: To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients.

Study Design: Patients enrolled in the Center for Applied Genomics Biobank at the Children's Hospital of Philadelphia with neurodegenerative symptoms were identified using an algorithm that consisted of including and excluding selected International Classification of Diseases, 9th and 10th edition codes. A manual chart review was then performed to abstract detailed clinical information.

Prevalence and Utility of Low Mean Corpuscular Volume in Infants Admitted to the Neonatal Intensive Care Unit.

Objective: To determine the prevalence of low mean corpuscular volume (MCV) in newborn infants admitted to the neonatal intensive care unit and to assess low MCV as a diagnostic test for alpha thalassemia.

Study Design: Retrospective analysis of all infants admitted to the neonatal intensive care unit between January 2010 and October 2018 for which a complete blood count was performed during the first 3 postnatal days. Infants with a low MCV were compared with those with a normal MCV.

Is an increased dwell time of a peripherally inserted catheter associated with an increased risk of bloodstream infection in infants?

Objective: To estimate the risk of bloodstream infection associated with catheter dwell time in infants.

Design: Retrospective study.

Setting: Duke University Medical Center neonatal intensive care unit, an academic, level 3 nursery in Durham, North Carolina.