Asians ; China ; Humans ; von Willebrand Diseases/therapy* ; von Willebrand Factor

ADAMTS13 Protein ; Asians ; China ; Humans ; Plasma Exchange ; Purpura, Thrombotic Thrombocytopenic/therapy*

Asians ; China ; Chronic Disease ; Consensus ; Female ; Heart Failure/therapy* ; Humans

Lung cancer is the most common malignancy with the highest incidence and mortality in China, which poses a major public health problem. To further standardize the prevention and treatment of lung cancer, improve the prognosis of patients, and provide professional evidence-based medical recommendations to medical professionals across China, the Oncology Society of Chinese Medical Association organized experts from departments of pulmonary medicine, oncology, thoracic surgery, radiotherapy, imaging, and pathology, based on indications approved by China Food and Drug Administration, domestically available drugs, recommendations of international guidelines and current clinical practice in China, integrated the latest evidence-based medical evidence of pathology, genetic testing, immune molecular biomarker detection and treatment methods of lung cancer in recent years. After consensus meetings, the Chinese Medical Association guideline for clinical diagnosis and treatment of lung cancer in China was formulated, which provided recommendations to clinicians, and imaging, laboratory, and rehabilitation professionals.
Asians ; China/epidemiology* ; Humans ; Lung Neoplasms/therapy* ; Medical Oncology ; Prognosis

OBJECTIVES: To study the characteristics of UGT1A1 gene mutations in Dong neonates in Sanjiang County of Liuzhou and its association with the pathogenesis of hyperbilirubinemia in Dong neonates. METHODS: A prospective analysis was performed on 84 neonates who were diagnosed with unexplained hyperbilirubinemia in the Department of Neonatology, Sanjiang County People's Hospital, from January 2021 to January 2022. Sixty healthy neonates born during the same period were enrolled as the control group. Peripheral blood genomic DNA was extracted for both groups, and UGT1A1 exon 1 was amplified by PCR and sequenced. RESULTS: In the case group, 33 neonates were found to have G71R missense mutation, with a mutation rate of 39%. The case group had a significantly higher frequency of A allele than the healthy control group (21% vs 10%, P<0.05). The risk of hyperbilirubinemia in Dong neonates carrying G71R missense mutation was 2.588 times as high as that in healthy neonates carrying wild-type UGT1A1 gene (P<0.05). Hardy-Weinberg equilibrium testing showed that the UGT1A1 G71R locus was in genetic equilibrium in both groups (P>0.05). CONCLUSIONS UGT1A1 G71R mutation is a high-frequency gene mutation type in Dong neonates in Sanjiang County, and G71R missense mutation is associated with hyperbilirubinemia in Dong neonates.
Asians/genetics* ; China ; Exons ; Glucuronosyltransferase/genetics* ; Humans ; Hyperbilirubinemia, Neonatal/genetics* ; Infant, Newborn ; Mutation

Asians ; China ; Humans ; Hypertension/drug therapy* ; Practice Guidelines as Topic ; Writing

OBJECTIVE: To explore the association between de novo mutations (DNM) and non-syndromic cleft lip with or without palate (NSCL/P) using case-parent trio design. METHODS: Whole-exome sequencing was conducted for twenty-two NSCL/P trios and Genome Analysis ToolKit (GATK) was used to identify DNM by comparing the alleles of the cases and their parents. Information of predictable functions was annotated to the locus with SnpEff. Enrichment analysis for DNM was conducted to test the difference between the actual number and the expected number of DNM, and to explore whether there were genes with more DNM than expected. NSCL/P-related genes indicated by previous studies with solid evidence were selected by literature reviewing. Protein-protein interactions analysis was conducted among the genes with protein-altering DNM and NSCL/P-related genes. R package "denovolyzeR" was used for the enrichment analysis (Bonferroni correction: P=0.05/n, n is the number of genes in the whole genome range). Protein-protein interactions among genes with DNM and genes with solid evidence on the risk factors of NSCL/P were predicted depending on the information provided by STRING database. RESULTS: A total of 339 908 SNPs were qualified for the subsequent analysis after quality control. The number of high confident DNM identified by GATK was 345. Among those DNM, forty-four DNM were missense mutations, one DNM was nonsense mutation, two DNM were splicing site mutations, twenty DNM were synonymous mutations and others were located in intron or intergenic regions. The results of enrichment analysis showed that the number of protein-altering DNM on the exome regions was larger than expected (P < 0.05), and five genes (KRTCAP2, HMCN2, ANKRD36C, ADGRL2 and DIPK2A) had more DNM than expected (P < 0.05/(2×19 618)). Protein-protein interaction analysis was conducted among forty-six genes with protein-altering DNM and thirteen genes associated with NSCL/P selected by literature reviewing. Six pairs of interactions occurred between the genes with DNM and known NSCL/P-related genes. The score measuring the confidence level of the predicted interaction between RGPD4 and SUMO1 was 0.868, which was higher than the scores for other pairs of genes. CONCLUSION Our study provided novel insights into the development of NSCL/P and demonstrated that functional analyses of genes carrying DNM were warranted to understand the genetic architecture of complex diseases.
Asians ; Case-Control Studies ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Mutation ; Parents ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing

OBJECTIVE: To analyze the mortality of injuries among children and adolescents aged 5 to 24 in China from 1990 to 2019, and to provide the theoretical basis for the formulation of policies related to injury prevention. METHODS: The mortality data of children and adolescents aged 5 to 24 years in China between 1990 and 2019 were obtained from Global Burden of Disease (GBD) 2019, and the change in mortality between 1990 and 2019 was described. Age-period-cohort analysis was utilized to determine the age effect, period effect and cohort effect for road injuries, drowning and self-harm. RESULTS: Injury mortality of Chinese children and adolescents aged 5 to 24 years decreased from 46.22 [95% uncertainty interval (UI): 40.88-52.12] per 100 000 to 20.36 (95%UI: 17.58-23.38) per 100 000 between 1990 and 2019. Sub-group analysis revealed a pattern that was basically consistent with the overall trend. From 1990 to 2019, drowning declined from the first leading cause of injury death among children and adolescents aged 5 to 24 years in China to the second while road injuries became the one which caused the most death among them, and self-harm was the third leading cause of injury death. The top three causes of injury death in each subgroup were basically the same as the overall, but the order was different in each subgroup. Age-period-cohort analysis showed that the death risk of road injuries, drowning, and self-harm all decreased with period and cohort. Aside from that, the death risk of road injuries showed a U-shape trend, which decreased at first but increased soon afterwards, with the increase of age, while the death risk of drowning decreased with age and the death risk of self-harm increased with age. CONCLUSION In China, the injuries mortality among children and adolescents aged 5 to 24 years has decreased over the last three decades. However, specific cause-related injury deaths, manifested differently in different sub-groups. Targeted policies and intervention should be proposed to reduce the mortality of children and adolescents in accordance with the characteristics of injuries death in different genders and age groups.
Adolescent ; Asians ; Cause of Death ; Child ; China/epidemiology* ; Drowning ; Female ; Global Burden of Disease ; Humans ; Infant ; Male ; Wounds and Injuries

Asians ; China ; Humans ; von Willebrand Diseases/therapy* ; von Willebrand Factor

ADAMTS13 Protein ; Asians ; China ; Humans ; Plasma Exchange ; Purpura, Thrombotic Thrombocytopenic/therapy*