Systemic-to-Pulmonary Collateral Artery in a Preterm Infant.

This case involved the detection of a systemic-to-pulmonary collateral artery (SPCA) in a preterm infant at 18 days using echocardiography, with SPCA closure identified at 11 months. Regular echocardiographic monitoring is essential to prompt therapeutic intervention in cases of elevated pulmonary flow, emphasizing the importance of timely management.

Neurological outcomes and associated perinatal factors in infants born between 22 and 25 weeks with active care.

Objectives: To elucidate the outcomes of periviable infants receiving active care (AC) and explore perinatal factors associated with neurodevelopmental outcomes.

Methods: This is a single-center retrospective study on infants born at 22-25 weeks of gestation, all of whom received AC. A developmental quotient (DQ) ≥ 85 at corrected 18 months was judged as normal.

Host-derived protein profiles of human neonatal meconium across gestational ages.

Meconium, a non-invasive biomaterial reflecting prenatal substance accumulation, could provide valuable insights into neonatal health. However, the comprehensive protein profile of meconium across gestational ages remains unclear. Here, we conducted an extensive proteomic analysis of first meconium from 259 newborns across varied gestational ages to delineate protein composition and elucidate its relevance to neonatal diseases.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Background: Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP) levels, and distinct facial features. This report presents a patient with inherited GPI deficiency caused by a homozygous frameshift variant of PGAP3 due to uniparental isodisomy (UPiD) on chromosome 17.

Method: Clinical characteristics of the patient were collected.

Doses Evaluated in Clinical Pharmacology Studies Investigating the Effect of Intrinsic and Extrinsic Factors on PK and Safety: Case Examples from Approved Drug Development Programs.

Dose selection for investigations of intrinsic and extrinsic factors of pharmacokinetic variability as well as safety is a challenging question in the early clinical stage of drug development. The dose of an investigational product is chosen considering the compound information available to date, feasibility of the assessments, regulatory requirements, and the intent to maximize information for later regulatory submission. This review selected 37 programs as case examples of recently approved drugs to explore the doses selected with focus on studies of drug interaction, renal and hepatic impairment, food effect and concentration-QTc assessment.