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Neonatal Medicine

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene

Mol Syndromol. 2024 Jun;15(3):257-268. doi: 10.1159/000536069. Epub 2024 Feb 1. ABSTRACT INTRODUCTION: Vici syndrome is an ultra-rare, congenital disorder of autophagy characterized by agenesis of …

Neonatal Medicine

Effectiveness of the six-step approach guided online training program to improve knowledge of Mycoplasma pneumoniae pneumonia among pediatricians: a pretest-posttest study

Transl Pediatr. 2024 May 31;13(5):760-769. doi: 10.21037/tp-24-53. Epub 2024 May 24. ABSTRACT BACKGROUND: In 2023, China witnessed an earlier and more widespread outbreak of Mycoplasma …

Neonatal Medicine

Evidence-based advances in minimally invasive surgery in infants with congenital gastrointestinal anomalies: a narrative review

Transl Pediatr. 2024 May 31;13(5):791-802. doi: 10.21037/tp-23-611. Epub 2024 May 20. ABSTRACT BACKGROUND AND OBJECTIVE: Minimally invasive surgery (MIS) has been widely utilized to manage …

Neonatal Medicine

Exposure to bilingual or monolingual maternal speech during pregnancy affects the neurophysiological encoding of speech sounds in neonates differently

Front Hum Neurosci. 2024 May 22;18:1379660. doi: 10.3389/fnhum.2024.1379660. eCollection 2024. ABSTRACT INTRODUCTION: Exposure to maternal speech during the prenatal period shapes speech perception and linguistic …

Neonatal Medicine

Prenatal diagnosis of rhombencephalosynapsis and postnatal outcomes associations and outcomes of prenatally detected rhombencephalosynapsis

Prenat Diagn. 2024 Jun 5. doi: 10.1002/pd.6620. Online ahead of print. ABSTRACT OBJECTIVE: To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses …

Neonatal Medicine

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan

J Coll Physicians Surg Pak. 2024 Jun;34(6):646-649. doi: 10.29271/jcpsp.2024.06.646. ABSTRACT OBJECTIVE: To evaluate the clinical, radiological, and biochemical features of glutaric aciduria Type 1 (GA1) …