Loss of Novel Diversity in Human Gut Microbiota Associated with Ongoing Urbanization in China.

Recent rapid and large-scale urbanization has had a profound impact on human lifestyles and is associated with an increased risk of many diseases. Recent studies have revealed large differences in the human gut microbiota across populations in countries at different stages of urbanization. However, few studies have analyzed the impact of ongoing urbanization within the same geographic region.

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.

Background: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form-infantile systemic hyalinosis (ISH)-with long survival and review the literature.

Methods And Results: Trio-exome sequencing revealed compound heterozygous mutations, including a novel 4.

[Intakes of energy and macronutrient from Chinses 15 provinces (autonomous regions, municipalities) adults aged 18 to 35 in 1989-2018].

Objective: To analyze the dietary energy and macronutrient intake status and changing trends of adults aged 18 to 35 in 15 provinces(autonomous regions, municipalities) in China from 1989 to 2018.

Methods: Based on the data from 11 rounds of follow-up survey conducted by "China Health and Nutrition Survey" between 1989 and 2018, a multi-stage stratified cluster sampling method was used to analyze the dietary data of 25 400 adults aged 18 to 35. The dietary survey was conducted by using 24-hour dietary recall in three consecutive days and household weighing accounting.

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.

Gut microbiota signatures of long-term and short-term plant-based dietary pattern and cardiometabolic health: a prospective cohort study.

Background: The interplay among the plant-based dietary pattern, gut microbiota, and cardiometabolic health is still unclear, and evidence from large prospective cohorts is rare. We aimed to examine the association of long-term and short-term plant-based dietary patterns with gut microbiota and to assess the prospective association of the identified microbial features with cardiometabolic biomarkers.

Methods: Using a population-based prospective cohort study: the China Health and Nutrition Survey, we included 3096 participants from 15 provinces/megacities across China.

Sugammadex Versus Neostigmine for Neuromuscular Block Reversal and Postoperative Pulmonary Complications in Patients Undergoing Resection of Lung Cancer.

Objectives: This study aimed to compare the effect of sugammadex and neostigmine on neuromuscular block reversal and the incidence of postoperative pulmonary complications in patients undergoing lung cancer resection.

Design: A double-blind, randomized, prospective study.

Setting: A single major urban teaching and university hospital.

Methamphetamine induces thoracic aortic aneurysm/dissection through C/EBPβ.

Aims: Thoracic aortic aneurysm/dissection (TAAD) is a life-threatening disease with diverse clinical manifestations. Although the association between methamphetamine (METH) and TAAD is frequently observed, the causal relationship between METH abuse and aortic aneurysm/dissection has not been established. This study was designed to determine if METH causes aortic aneurysm/dissection and delineate the underlying mechanism.

Longitudinal Association of Dietary Energy Density with Abdominal Obesity among Chinese Adults from CHNS 1993-2018.

Few studies have explored the longitudinal association between dietary energy density and waist circumference and abdominal obesity in adults in China. This study aimed to analyze the relationship between dietary energy density and waist circumference and abdominal obesity in Chinese residents aged 18-64. Using data from the CHNS from 1993 to 2018, 25,817 adult residents aged 18 to 64 were selected for the study.

Differential Associations of Intakes of Whole Grains and Coarse Grains with Risks of Cardiometabolic Factors among Adults in China.

There is a lack of studies on the association between whole grain intake and cardiometabolic risk factors in China and the current definition of whole grains is inconsistent. This study defined whole grains in two ways, Western versus traditional, and examined their associations with the risks of major cardiometabolic factors (CMFs) among 4706 Chinese adults aged ≥18 years, who participated in surveys both in 2011 and in 2015. Diet data were collected by consecutive 3 d 24 h recalls, together with household seasoning weighing.

Secular Trends in Time-of-Day of Energy Intake in a Chinese Cohort.

Few studies have described the status and change of time-of-day of energy intake on a population level. This study aims to investigate the secular trend in time-of-day of energy intake using a Chinese cohort, and to examine demographic disparities in trends. A total of 20,976 adults with at least two waves of dietary data in the China Health and Nutrition Survey (CHNS 1991-2018) were included.

Relationship between Dietary Magnesium Intake and Metabolic Syndrome.

Metabolic syndrome (MetS) is increasingly prevalent, and the relationship between dietary magnesium and MetS remains controversial. Therefore, we aimed to explore the association and dose-response relationship between dietary magnesium intake and MetS and its single component. The sample was adults aged 18 years and above who participated in at least two follow-up surveys in 2009, 2015 and 2018.

B, O and N Codoped Biomass-Derived Hierarchical Porous Carbon for High-Performance Electrochemical Energy Storage.

High specific surface area, reasonable pore structure and heteroatom doping are beneficial to enhance charge storage, which all depend on the selection of precursors, activators and reasonable preparation methods. Here, B, O and N codoped biomass-derived hierarchical porous carbon was synthesized by using KCl/ZnCl as a combined activator and porogen and HBO as both boron source and porogen. Moreover, the cheap, environmentally friendly and heteroatom-rich laver was used as a precursor, and impregnation and freeze-drying methods were used to make the biological cells of laver have sufficient contact with the activator so that the layer was deeply activated.

Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies.

Thymic hypoplasia is a primary cellular immunodeficiency that causes susceptibility to serious infections leading to sudden death in infants. Some genetic disorders in humans could result in the evident permanent hypoplasia or occasional aplasia of the thymus at birth. However, determining the genetic etiology of thymic hypoplasia is challenging for the sudden infant death due to primary cellular immunodeficiency.

MoCL: Data-driven Molecular Fingerprint via Knowledge-aware Contrastive Learning from Molecular Graph.

Recent years have seen a rapid growth of utilizing graph neural networks (GNNs) in the biomedical domain for tackling drug-related problems. However, like any other deep architectures, GNNs are data hungry. While requiring labels in real world is often expensive, pretraining GNNs in an unsupervised manner has been actively explored.

Association of Serum Magnesium with Insulin Resistance and Type 2 Diabetes among Adults in China.

Magnesium is an essential mineral for the human body and a cofactor or activator for more than 300 enzymatic reactions, including blood glucose control and insulin release. Diabetes is a well-known global burden of disease with increasing global prevalence. In China, the prevalence of diabetes in adults is higher than the global average.

Clinical Study of 30 Novel Variants/Deletions in -Related Disorders.

Background: -related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive. This study aims to provide clinical features, management, and prognosis of patients with novel candidate variants of the gene.

The optimal combination of Nile red identification, colony polymerase chain reaction, and gas chromatography detection methods in screening for polyhydroxyalkanoicate-producing bacteria.

The study devised a detection process combining Nile red-containing media, polymerase chain reaction (PCR), and gas chromatography (GC) to evaluate the possibility of microbes becoming polyhydroxyalkanoate (PHA) producers. The Nile red and PCR detection steps of designating PHA producers had true positive rates of 39.4% and 40%, respectively, and the use of GC analysis as the final step yielded accurate results for the production types and yields of PHAs.

Landscape of immunoglobulin heavy chain gene repertoire and its clinical relevance to LPL/WM.

Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM) is a heterogeneous disease in which the role of immunoglobulin heavy-chain genes (IGHs) remains unknown. To determine the clinical relevance of the IGH repertoire in patients with LPL/WM, we performed immunoglobulin gene rearrangement and complementarity determining region 3 (CDR3) analysis. The IGH variable gene (IGHV) repertoire was remarkably biased in LPL/WM.

Purine nucleoside analogs plus rituximab are an effective treatment choice for hairy cell leukemia-variant.

Both characteristics and optimal treatment strategy for hairy cell leukemia-variant (HCL-v) remain elusive due to its rarity. We retrospectively analyzed the clinical features of HCL-v and the efficacy of first-line treatment options in a large Chinese cohort. In this study, we recruited 33 HCL-v patients (23 males and 10 females) with a median age of 59 years (range, 34-79 years).

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Palmoplantar keratoderma-congenital alopecia syndrome type 2 is an autosomal recessive disorder with an unknown genetic basis. In this study, we identified biallelic variants in the LSS gene in two unrelated palmoplantar keratoderma-congenital alopecia syndrome type 2 cases (c.3G>A, p.

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.