Bioinformatic identification of signature miRNAs associated with fetoplacental vascular dysfunction in gestational diabetes mellitus.

Background: Intrauterine exposure to gestational diabetes mellitus (GDM) poses significant risks to fetal development and future metabolic health. Despite its clinical importance, the role of microRNAs (miRNAs) in fetoplacental vascular endothelial cell (VEC) programming in the context of GDM remains elusive. This study aims to identify signature miRNA genes involved in this process using bioinformatics analysis via multiple algorithms.

A combination analysis based on bioinformatics tools reveals new signature genes related to maternal obesity and fetal programming.

Background: Maternal obesity significantly influences fetal development and health later in life; however, the molecular mechanisms behind it remain unclear. This study aims to investigate signature genes related to maternal obesity and fetal programming based on a genomic-wide transcriptional placental study using a combination of different bioinformatics tools.

Methods: The dataset (GSE128381) was obtained from Gene Expression Omnibus (GEO).

The performance of the practices associated with the occurrence of severe intraventricular hemorrhage in the very premature infants: data analysis from the Chinese neonatal network.

Background: The occurrence of severe intraventricular hemorrhage (sIVH) was high in the very preterm infants (VPIs) in China. The management strategies significantly contributed to the occurrence of sIVH in VPIs. However, the status of the perinatal strategies associated with sIVH for VPIs was rarely described across the multiple neonatal intensive care units (NICUs) in China.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Background: A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating.

A MEMS Electrochemical Angular Accelerometer with Silicon-Based Four-Electrode Structure.

This paper presents a MEMS electrochemical angular accelerometer with a silicon-based four-electrode structure, which was made of thousands of interconnected microchannels for electrolyte flow, anodes uniformly coated on structure surfaces and cathodes located on the sidewalls of flow holes. From the perspective of device fabrication, in this study, the previously reported multi-piece assembly was simplified into single-piece integrative manufacturing, effectively addressing the problems of complex assembly and manual alignment. From the perspective of the sensitive structure, in this study, the silicon-based four-electrode structure featuring with complete insulation layers between anodes and cathodes can enable fast electrochemical reactions with improved sensitivities.

A resonant high-pressure microsensor based on a composite pressure-sensitive mechanism of diaphragm bending and volume compression.

In this paper, a composite pressure-sensitive mechanism combining diaphragm bending and volume compression was developed for resonant pressure microsensors to achieve high-pressure measurements with excellent accuracy. The composite mechanism was explained, and the sensor structure was designed based on theoretical analysis and finite element simulation. An all-silicon resonant high-pressure microsensor with multiple miniaturized cavities and dual resonators was developed, where dual resonators positioned in two resonant cavities with suitably different widths are used to perform opposite characteristics in pressure and the same characteristics at different temperatures, which can improve pressure sensitivities and realize temperature self-compensation by differential frequency output.

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.

Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 () gene is a rare autosomal recessive disease that results in defective fatty acid oxidation. PCD can be detected through tandem mass spectrometry (MS/MS), but transplacental transport of free carnitine from mothers may cause false negatives or positives during newborn screening (NBS). This study aimed to analyze the genetic characteristics of and estimate the prevalence of PCD in the Chinese population, providing useful information for NBS and genetic counseling.

Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.

Background: In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn intensive care unit (NICU) and establish a prognosis prediction model by combining clinical and genetic factors.

Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects.

Introduction: Pathogenic variant in the KCNQ2 gene is a common genetic etiology of neonatal convulsion. However, it remains a question in KCNQ2-related disorders that who will develop into atypical developmental outcomes.

Methods: We established a prediction model for the neurodevelopmental outcomes of newborns with seizures caused by KCNQ2 gene defects based on the Gradient Boosting Machine (GBM) model with a training set obtained from the Human Gene Mutation Database (HGMD, public training dataset).

PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts.

The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing data through web services, but it requires significant trust between users and providers. To alleviate privacy concerns, the most commonly used strategy is to anonymize sensitive data.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Background: A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome sequencing (GS) for diagnosis and gene discovery.

The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.

The Mulibrey (Muscle-liver-brain-eye) nanism caused by loss-of-function variants in TRIM37 gene is an autosomal recessive disorder characterized by severe growth failure and constrictive pericarditis. These patients also suffer from severe respiratory infections, co-incident with an increased mortality rate. Here, we revealed that TRIM37 variants were associated with recurrent infection.

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.

Risk stratification of hemodynamically significant patent ductus arteriosus by clinical and genetic factors.

Background: Hemodynamically significant patent ductus arteriosus (hsPDA) is associated with increased comorbidities in neonates. Early evaluation of hsPDA risk is critical to implement individualized intervention. The aim of the study was to provide a powerful reference for the early identification of high-risk hsPDA population and early treatment decisions.

High-Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population.

Advances in genomic medicine have greatly improved our understanding of human diseases. However, phenome is not well understood. High-resolution and multidimensional phenotypes have shed light on the mechanisms underlying neonatal diseases in greater details and have the potential to optimize clinical strategies.

Co-infections of Klebsiella pneumoniae and Elizabethkingia miricola in black-spotted frogs (Pelophylax nigromaculatus).

Pelophylax nigromaculatus is a common commercial specie of frogs that generally cultured throughout China. With the application of high-density culture, P. nigromaculatus can be co-infected by two or more pathogens, which thereby induce synergistic influence on the virulence of the infection.

An Integrated Pipeline for Trio-Rapid Genome Sequencing in Critically Ill Infants.

Trio-rapid genome sequencing (trio-rGS) can assist the genetic diagnosis of critically ill infants given its ability to detect a broad range of pathogenic variants, as well as microbes, simultaneously with high efficiency. To achieve more comprehensive clinical diagnoses, it is essential to propose a recommended protocol in clinical practice. Here, we introduced an integrated pipeline to detect germline variants and microorganisms simultaneously from trio-RGS in critically ill infants, which provides step-by-step criteria for the semi-automatic processing procedures.

Application of artificial intelligence system for screening multiple fundus diseases in Chinese primary healthcare settings: a real-world, multicentre and cross-sectional study of 4795 cases.

Background/aims: This study evaluates the performance of the Airdoc retinal artificial intelligence system (ARAS) for detecting multiple fundus diseases in real-world scenarios in primary healthcare settings and investigates the fundus disease spectrum based on ARAS.

Methods: This real-world, multicentre, cross-sectional study was conducted in Shanghai and Xinjiang, China. Six primary healthcare settings were included in this study.

[Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].

Objectives: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.

Methods: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.