Case report: A novel compound heterozygous variant in the gene causes single kidney agenesis and vesicoureteral reflux.

Primary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current investigation, we conducted whole-exome sequencing on a child exhibiting single kidney, devoid of any familial VUR background, along with both biological parents.

[Genetic analysis and in vitro validation of a case of Alport syndrome due to a splicing variant of COL4A5 gene].

Objective: To explore the genetic basis for a patient with Alport syndrome (AS) and confirm the existence of a splicing variant.

Methods: An AS patient diagnosed at the Affiliated Hospital of Inner Mongolia Medical University on January 8, 2021 for significant proteinuria and occult hematuria was selected as the study subject. Clinical data was collected.

Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human protein.

Acute intermittent porphyria (AIP; OMIM#176000) is a genetic disorder that is caused by mutations in the hydroxymethylbilane synthetase () gene. This gene encodes the third enzyme in the heme biosynthesis pathway. Human () contains a 29-residue insert (residues 296-324) at the interface between domains 1 and 3.

Risk Factors for Macrosomia in Multipara: A Multi-Center Retrospective Study.

The increased incidence of macrosomia has caused an enormous burden after the transition from the almost 40-year one-child policy to the universal two-child policy in 2015 and further to the three-child policy in 2021 in China. However, studies on risk factors of macrosomia in multipara under the new fertility policy in China are limited. We aim to explore the incidence and risk factors for macrosomia in multipara to provide the scientific basis for preventing macrosomia in multipara.

Risk of gestational diabetes recurrence and the development of type 2 diabetes among women with a history of gestational diabetes and risk factors: a study among 18 clinical centers in China.

Background: Gestational diabetes mellitus (GDM) brings health issues for both mothers and offspring, and GDM prevention is as important as GDM management. It was shown that a history of GDM was significantly associated with a higher maternal risk for GDM recurrence. The incidence of GDM recurrence was unclear because of the incidence of second-child was low before 2016 in China.

Heterogeneous NiS@FeNiS@NF nanosheet arrays directly used as high efficiency bifunctional electrocatalyst for water decomposition.

Developing and designing bifunctional electrocatalysts are very important for the production of hydrogen from water electrolysis. The reasonable interface modulation can effectively lead to the optimization of electronic configuration through the interface electron transfer in the heterostructures and thus resulting in the enhanced efficiency. In this work, self-supported and heterogeneous interface-rich NiS@FeNiS@NF electrocatalyst for overall water splitting was designed and prepared through a controllable step-wise hydrothermal process.

The meconium microbiota shares more features with the amniotic fluid microbiota than the maternal fecal and vaginal microbiota.

The early-life gut microbiota is associated with potential development of diseases in adulthood. The sterile womb paradigm has been challenged by recent reports that revealed the presence of the meconium, amniotic fluid, and placenta microbiome. This study aimed to explore the maternal origin of the microbiota of neonate meconium by using the PacBio single-molecule real-time circular consensus sequencing technology.

Seasonal response of the synergism of maternal comorbidities and long-term air pollution exposure on birth outcomes.

Air pollution has been considered as one of the most important factors associating with various birth outcomes. However, the seasonal response of maternal comorbidities effects associated with air pollution has not been investigated, especially in the city with distinguish seasonal pattern and long heating seasons. In this work, 69,945 live births were investigated from 2013 to 2016, and the seasonal relationship between air pollution and preterm birth and low birth weight were assessed, as well as the synergism of maternal comorbidities.

Increasing risk of congenital anomalies associated with seasonal pattern of air pollution: Differences by maternal comorbidities.

To interpret the relationship of the seasonal pattern of air pollution exposure associated with increased risk of congenital anomalies (CA) and the trimester-specific effects. In this work, 55,428 hospital records with 847 doctor-diagnosed CA from July 2013 to December 2016 were collected in Hohhot, China. Maternal exposure to critical air pollutants (SO, CO, PM, O, NO and PM) were estimated using an inverse distance weighted (IDW) method on the basis of the ambient air quality monitoring stations.

The value of the 24-h proteinuria in evaluating the severity of preeclampsia and predicting its adverse maternal outcomes.

Background: To identify the 24-h proteinuria value with quantitative analysis and how it correlates with the severity of preeclampsia and subsequent adverse maternal outcomes in the Chinese population.

Study Design: Eleven hospitals in 10 provinces across China were chosen, in which 1,738 pregnant women complicated by hypertensive disorders of pregnancy (HDP) with the records of 24 h proteinuria were enrolled. They were allocated into four groups: patients with maximal quantified proteinuria < 0.

Association between apolipoprotein E gene polymorphism and the risk of recurrent pregnancy loss: a meta-analysis.

Purpose: The association between apolipoprotein E (ApoE) gene polymorphism and the risk of recurrent pregnancy loss (RPL) remains controversial. The present meta-analysis was performed to derive a precise estimate of the relationship.

Method(s): We searched the PubMed, Embase, and Web of Science data- bases for studies related to the association between the ApoE genotype and the risk of RPL.