Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.

Assessment of Piperacillin-Tazobactam Population Pharmacokinetic Models in Neonates: An External Validation.

Background And Objective: Neonatal pharmacotherapy has gained attention from clinicians and regulatory agencies for optimizing the dosage of the drug which improves therapeutic outcomes in this special population. Piperacillin-tazobactam antibiotic is commonly used as a therapeutic option for treatment of severe infection in neonatal intensive care units. There are few population pharmacokinetic (PopPK) studies of piperacillin and tazobactam published for this specific population and which were not validated in other study settings.

Assessment of depression, anxiety, stress, alcohol dependence, and resilience in migrant workers during COVID-19 crisis.

Background: During the COVID-19 pandemic, migrant workers in India have gone through many hardships. After the lockdown, many construction sites, factories, and workplaces shut down, and innumerable migrant workers faced a loss of income, shortage of food, and uncertain future. This massive change in their living conditions made them vulnerable to psychological problems.

Impact of COVID-19 on medical students well-being and psychological distress.

Background: Mental well-being is important for medical students to perform effectively. The COVID-19 pandemic posed different stressors to medical students increasing their vulnerability to distress and impaired well-being.

Aim: To assess the effect of the COVID-19 pandemic on the well-being of medical students and its relation with COVID-related psychological distress and fear as well as sleep quality.

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin-2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3), indicative of Phelan-McDermid syndrome. Further analysis via traditional karyotyping, Optical Genome Mapping (OGM), and PacBio long-read sequencing revealed a more complex landscape of chromosomal rearrangements in this individual, including a balanced 3;12 translocation, and an unbalanced 17;22 translocation.