Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Background: Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal diagnosis (NIPD) is an early, safe, and accurate method.

Covalent-Organic Frameworks for Selective and Sensitive Detection of Antibiotics from Water.

As the consumption of antibiotics rises, they have generated some negative impacts on organisms and the environment because they are often unable to be effectively degraded, and seeking effective detection methods is currently a challenge. Covalent-organic frameworks (COFs) are new types of crystalline porous crystals created based on the strong covalent interactions between blocked monomers, and COFs demonstrate great potential in the detection of antibiotics from aqueous solutions because of their large surface area, adjustable porosity, recyclability, and predictable structure. This review aims to present state-of-the-art insights into COFs (properties, classification, synthesis methods, and functionalization).

Urban health advantage and penalty in aging populations: a comparative study across major megacities in China.

Background: Urban living is linked to better health outcomes due to a combination of enhanced access to healthcare, transportation, and human development opportunities. However, spatial inequalities lead to disparities, resulting in urban health advantages and penalties. Understanding the relationship between health and urban development is needed to generate empirical evidence in promoting healthy aging populations.

Ultrafine CoRu alloy nanoclusters densely anchored on Nitrogen-Doped graphene nanotubes for a highly efficient hydrogen evolution reaction.

Designing highly efficient and stable electrocatalysts for hydrogen evolution reactions (HER) is essential to the production of green and renewable hydrogen. Metal-organic framework (MOF) precursor strategies are promising for the design of excellent electrocatalysts because of their porous architectures and adjustable compositions. In this study, a hydrogen-bonded organic framework (HOF) nanowire was developed as a precursor and template for the controllable and scalable synthesis of CoRu-MOF nanotubes.

China's public health initiatives for climate change adaptation.

China's health gains over the past decades face potential reversals if climate change adaptation is not prioritized. China's temperature rise surpasses the global average due to urban heat islands and ecological changes, and demands urgent actions to safeguard public health. Effective adaptation need to consider China's urbanization trends, underlying non-communicable diseases, an aging population, and future pandemic threats.

S100 Calcium-Binding Protein A8 Functions as a Tumor-Promoting Factor in Renal Cell Carcinoma via Activating NF-κB Signaling Pathway.

Background: Renal cell carcinoma (RCC), arising from the renal tubular epithelium, is one of the most common types of genitourinary malignancies. Based on the Gene Expression Omnibus (GEO) database (GSE100666), S100 calcium-binding protein A8 (S100A8) was highly expressed in RCC tissues. S100A8, an inflammatory regulatory factor, has emerged as an important mediator associated with the occurrence and development of cancer.

[Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review].

Objective: To assess the value of copy number variation sequencing (CNV-seq) for revealing the genetic etiology of fetuses with isolated ventricular septal defect (VSD).

Methods: From December 2017 to December 2020, 69 fetuses with isolated VSD were identified at the First Affiliated Hospital of Zhengzhou University. Meanwhile, 839 similar prenatal cases were selected from public databases including Wanfang data, Wanfang Medicine, and China National Knowledge Infrastructure (CNKI) by using keywords such as "Ventricular septal defect", "Copy number variation", and "Prenatal".

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.

Background: Next-generation sequencing for copy number variants is often used as a follow-up investigation of unusual fetal ultrasound results and is capable of detecting copy number variations with a resolution of ∼0.1 Mb. In a prenatal setting, observation and subsequent management of pregnancies with a fetal variant of uncertain significance remains problematic for counseling.

General Synthesis of MOF Nanotubes via Hydrogen-Bonded Organic Frameworks toward Efficient Hydrogen Evolution Electrocatalysts.

The application scope of metal-organic frameworks (MOFs) can be extended by rationally designing the architecture and components of MOFs, which can be achieved via a metal-containing solid templated strategy. However, this strategy suffers from low efficiency and provides only one specific MOF from one template. Herein, we present a versatile templated strategy in which organic ligands are weaved into hydrogen-bonded organic frameworks (HOFs) for the controllable and scalable synthesis of MOF nanotubes.

Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.

Background: Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear.

Methods: We retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group), by CNV sequencing (CNV-Seq) and followed their pregnancy outcomes.

[Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology].

Objective: To assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB).

Methods: A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs.

[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].

Objective: To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK).

Methods: Next-generation sequencing (muscular dystrophy related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents.

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Background: Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment.

Methods: Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags and weighting algorithm and applied it to the NIPD of PKU to evaluate its accuracy and feasibility in the early pregnancy. A custom-designed hybridization probes containing regions in phenylalanine hydroxylase (PAH) gene and its 1 Mb flanking region were used for target sequencing on genomic and maternal plasma DNA (7-13 weeks of gestation) to construct the parental haplotypes and the proband's haplotype.

Trojan-Like Peptide Drug Conjugate Design and Construction for Application in Treatment of Triple-Negative Breast Cancer.

Clinical treatment of triple negative breast cancer (TNBC) is very poor for lack of effective treatment combination selection. Protein C receptor (PROCR) is a novel cancer stem marker in TNBC patients tumor tissues. Developed based on peptide BP10 with affinity to PROCR as a targeting element, constructing a peptide drug conjugate of BP10 covalently coupling doxorubicin with disulfide bonds.

Luteolin-Loading Her-2 Nanospheres Enhances Targeting and Therapeutic Effects of Breast Cancer.

Despite the broad anticancer activity, whereas the clinical application of luteolin is hindered by unsatisfactory water solubility and non-targeting. Herein, targeted inhibitory effects of luteolin-loading HER2 nanospheres (Her-2-NPs) were successfully prepared by thin film ultrasonic method. In comparison with the non-targeted nanospheres, Her-2 nanospheres could significantly boost the intake of luteolin in SK-BR-3 cells.

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.

Objectives: To evaluate the clinical potential of a higher resolution noninvasive prenatal screening (NIPS-Plus) test for detection of microdeletion/microduplication syndromes (MMS) in addition to common aneuploidies.

Methods: In a multicenter prospective study, 37,002 pregnant women with unremarkable first-trimester ultrasound scans had a NIPS-Plus test. Ultrasound screen positive women were not included in this study.

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency.

The condition 17a-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare kind of congenital adrenal hyperplasia (CAH) characterized by failure to synthetize cortisol, adrenal androgens and gonadal steroids. Partial deficiency is much rarer, presenting with subtler symptoms. In this study, we summarized the clinical characteristics and identified the underlying gene mutation in four Chinese 46,XX patients with partial 17-OHD.

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

Objective: 17 α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 α-hydroxylase deficiency caused by CYP17A1 gene mutations.

Methods: A large cohort of 10 Chinese Han patients with 17-OHD from 2012 to 2020 were enrolled. The clinical and biochemical features were investigated, and genetic mutations of CYP17A1 were analyzed by polymerase chain reaction-Sanger sequencing.