Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Background: Schaaf-Yang syndrome (SYS) is a recently identified rare neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulty, joint contractures, autism spectrum disorder and development delay/intellectual disability. It is mainly caused by truncating variants in maternally imprinted gene within the Prader-Willi syndrome critical region 15q11-q13. Clinical diagnosis of SYS is difficult for clinicians due to its rarity and highly variable phenotypes, while unique inheritance patterns also complicate genetic diagnosis.

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study, we report twelve unrelated individuals with variants using next-generation sequencing.

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes.

Background: Special AT-rich sequence-binding protein 2 is essential for the development of cerebral cortex and key molecular node for the establishment of proper neural circuitry and function. Mutations in the SATB2 gene lead to SATB2-associated syndrome, which is characterized by abnormal development of skeleton and central nervous systems.

Methods: We generated Satb2 knockout mouse model through CRISPR-Cas9 technology and performed RNA-seq and ChIP-seq of embryonic cerebral cortex.

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.

Background: DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, dyskeratosis congenita (DC), which is associated with immunodeficiency and bone marrow failure.

Methods: In this research, we reported a novel intronic mutation of DKC1 causing dyskerin functional loss in a Chinese family.

Influence mechanism of C/N ratio on heterotrophic nitrification- aerobic denitrification process.

A heterotrophic nitrification- aerobic denitrification (HNAD) bacterium, Acinetobacter junii ZHG-1, was isolated, meanwhile, the optimal conditions for the strain were evaluated, moreover, the influence mechanism of the C/N ratio on the HNAD process was investigated from the perspective of electron transport and energy level. The increasing of C/N ratio enhanced the reduced/oxidized nicotinamide adenine dinucleotide (NADH/NAD) ratio, NADH concentration, electron transport system activity (ETSA), ATP content, as well as enzymes activities, consequently, the HNAD performance of the strain can be improved, however, when the C/N ratio was higher than 30, the activities of enzymes relating to the HNAD process and the ETSA had reached the maximum, which might limit the further improvement of the nitrogen removal with the increasing of C/N ratio. As the interaction between different biochemical reactions in HNAD process, more efforts should be devoted to the influent mechanism of different environmental factors on the HNAD process.

Effects of static magnetic field on the performances of anoxic/oxic sequencing batch reactor.

Two anoxic/oxic (A/O) sequencing batch reactor (SBR) processes were utilized to study the effects of static magnetic field (SMF) on biological wastewater treatment process. Except for conventional indices, the reduced nicotinamide adenine dinucleotide (NADH)/oxidized nicotinamide adenine dinucleotide (NAD) ratio and electron transport system activity (ETSA), as well as poly-beta-hydroxybutyrate (PHB) and extracellular polymetric substance (EPS) contents in two reactors which were with and without SMF under two cyclic times (12 h and 8 h) were monitored. When the process was enhanced by SMF, the total nitrogen removal efficiency can be improved (>80%), and the NADN/NAD ratio, ESTA, the maximum EPS content and the maximum PHB content in the reactor with SMF were higher.