Molecular Genetic Analysis of Newborns with Congenital Microcephaly.

Introduction: Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in China remains unknown.

Methods: Sixty-one neonates with CM who were hospitalized in the Children's Hospital of Fudan University between August 1, 2016, and August 31, 2020, were enrolled, and the clinical data and clinical exome-sequencing data were analyzed. An additional 18,103 parental data entries from the Chinese Children's Genetic Testing Clinical Collaboration System database were collected to estimate the incidence of ASPM-related congenital microcephaly (ASPM-CM) in East China by analyzing the carrier frequency of ASPM mutations.

Clinical and Genetic Etiologies of Neonatal Unconjugated Hyperbilirubinemia in the China Neonatal Genomes Project.

Objective: To investigate the clinical and genetic causes of neonatal unconjugated hyperbilirubinemia.

Study Design: We included 1412 neonates diagnosed with unconjugated hyperbilirubinemia (total serum bilirubin >95 percentile for age), from the China Neonatal Genomes Project between August 2016 and September 2019, in the current study. Clinical data and targeted panel sequencing data on 2742 genes including known unconjugated hyperbilirubinemia genes were analyzed.

Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort.

Objective: To explore the genetic spectrum of cerebral palsy (CP) in a Chinese pediatric cohort.

Study Design: This was a retrospective observational study of patients with CP from the Children's Hospital of Fudan University between June 2015 and December 2019. Their clinical data and exome sequencing data were collected and analyzed.

Activating adenosine A1 receptor accelerates PC12 cell injury via ADORA1/PKC/KATP pathway after intermittent hypoxia exposure.

Obstructive sleep apnea hypopnea syndrome (OSAHS) is associated with the neurocognitive deficits as a result of the neuronal cell injury. Previous studies have shown that adenosine A1 receptor (ADORA1) played an important role against hypoxia exposure, such as controlling the metabolic recovery in rat hippocampal slices and increasing the resistance in the combined effects of hypoxia and hypercapnia. However, little is known about whether ADORA1 takes part in the course of neuronal cell injury after intermittent hypoxia exposure which was the main pathological characteristic of OSAHS.

[Clinical value of portable sleep testing in children with obstructive sleep apnea syndrome].

Objective: To determine the clinical value of portable sleep testing by Watch-PAT (PAT) in children with obstructive sleep apnea syndrome (OSAS).

Method: Fifty cases of snoring children aged 3-11 years were randomly selected to undergo the polysomnography (PSG) and PAT simultaneously at the same night. The consistency of sleep parameters in OSAS and non - OSAS children were compared with PSG as reference standard, and ROC curve analysis was performed to assess the sensitivity and specificity in the diagnosis of OSAS with PAT portable sleep monitor.

Endoplasmic reticulum stress plays critical role in brain damage after chronic intermittent hypoxia in growing rats.

Obstructive sleep apnea hypopnea syndrome (OSAHS) in children is associated with multiple system morbidities. Cognitive dysfunction as a result of central nervous system complication has been reported in children with OSAHS. However, the underlying mechanisms are poorly understood.