OBJECTIVES

In Asia, younger individuals (below age 45) are diagnosed to have type 2 diabetes with increased rates of obesity defined by lower BMI yet with greater visceral adiposity (waist circumference and waisthip ratios). The prevalence data on type 1 diabetes is not well established, considered to be low, but is seen to be increasing as well. This changing phenotype therefore, presents a clinical dilemma in terms of correctly classifying diabetes and deciding on the consequent appropriate treatment. Distinguishing type 1 from type 2 diabetes has become more difficult with type 2 diabetes dramatically increasing in young adults and children. This study aims to define the characteristics of diabetes among young adults in the Philippines to provide a basis for appropriate management amidst changes in diabetes phenotypes seen globally.

METHODS

In this cross-sectional analytic study, we characterized the demographic, metabolic, and autoimmune features of diabetes among young adult Filipinos aged 18 to 45 years old consulting at a tertiary referral center in Manila, Philippines. Baseline serum A1c, FBS, 75-g oral glucose tolerance test, insulin, serum C-peptide, insulin autoantibodies, leptin, adiponectin, lipid profile, and thyroid function tests were obtained from the participants and analyzed. The homeostasis model assessment (HOMA) was used to estimate the insulin sensitivity.

RESULTS

A total of 348 patients with diabetes were included, with females comprising two-thirds of the participants. The mean age at diagnosis of diabetes was 35.9±7.22 years. The mean BMI was 28.12 kg/m2, with median waist to hip ratio (WHR) of 0·93. Metabolic syndrome was found in 60% of participants and 67.82% were obese by body mass index. The mean A1c was 9.07±2.52%. Good glucose control (A1c less than 7.0%) was seen in 23% of participants  while nearly half (48%) had HbA1c which was >9.0%. The median levels of fasting insulin and C-peptide were 12.62 (range 1.33–90.42) mIU/L and 0.78 ng/mL (range 0–16.2), respectively. 

Included participants were diagnosed with diabetes within a year and as such, majority did not have any micro- or macrovascular complications. The most common diabetes complication was sensory neuropathy detected by monofilament testing, which was found in 28% of participants, followed by non-proliferative diabetic retinopathy in 13%. A history of previous diabetic ketoacidosis was found in 10 patients (2.87%). Glutamic acid decarboxylase (GAD) and insulin auto-antibodies were found in 3.2% and 19.3% of participants, respectively. Approximately half (51.73%) of the participants were insulin resistant by HOMA-IR.

CONCLUSION

In contrast with Caucasians and other Asians, diabetes among young Filipino adults is associated with lower BMI but with a similarly high visceral adiposity as shown by an elevated WHR. Metabolic syndrome with insulin resistance as defined by a variety of indices is predominant. Type 1 diabetes with autoantibodies occur in only a small fraction of this population. Data derived from this work can provide a framework for cluster analysis towards personalized management specific to this population.

Human ; Acids ; Adiponectin ; Adiposity ; Adult ; Aged ; Antibodies ; Asia ; Asian ; Asian Continental Ancestry Group ; Autoantibodies ; Body Mass Index ; C-peptide ; Carboxy-lyases ; Child ; Cluster Analysis ; Demography ; Diabetes Complications ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Diabetic Retinopathy ; Diagnosis ; Fasting ; Female ; Glucose ; Glucose Tolerance Test ; Glutamate Decarboxylase ; Glutamic Acid ; Insulin ; Insulin Resistance ; Ketosis ; Leptin ; Lipids ; Metabolic Syndrome ; Obesity ; Patients ; Peptides ; Phenotype ; Philippines ; Population ; Prevalence ; Serum ; Therapeutics ; Thyroid Gland ; Thyroid Function Tests ; Young Adult

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

Chinese medicine extracts are the important pharmaceutical materials of Chinese medicinal preparations, but their nomenclature still needs improvement in the field of traditional Chinese medicine(TCM). By the analysis of the evolution rules of names of Chinese medicine extracts recorded in the Chinese Pharmacopoeia, this study proposed a three-level nomenclature of "Chinese medicine name+chemical information+extract" based on the standardization problems involved in the existing nomenclature, striving to accurately suggest the material basic information on extract names. Meanwhile, the basic elements of Chinese medicine components, the special case from Chinese medicine extracts, were clarified, and the core connotations of the professional names were discriminated to arouse attention and discussions of researchers, facilitate the standardization of Chinese medicine terminology, and promote the scienti-fic development of Chinese medicinal preparations, and the modernization and internationalization of Chinese medicine.
Asians ; Drugs, Chinese Herbal ; Humans ; Medicine, Chinese Traditional ; Reference Standards ; Social Change

OBJECTIVE: To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD). METHODS: Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing. RESULTS: Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene. CONCLUSION The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.
Asians/genetics* ; China ; Female ; Glycosylation ; Humans ; Male ; Mutation ; Pedigree ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a Chinese patient with retinitis pigmentosa (RP). METHODS: Whole exome sequencing (WES) was carried out to screen potential variant in the proband. Candidate variants were determined by taking consideration of clinical phenotype. Sanger sequencing was used to verify the variant in the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of c.8G>A (p.Cys3Tyr) and c.958_959insA (p.Arg320Glnfs*29) in the C2ORF71 gene, which has derived from his father and mother, respectively. Both variants were unreported previously. Based on the ACMG guidelines, they were predicted to be likely pathogenic and pathogenic, respectively. CONCLUSION The novel compound heterozygous variants of the C2ORF71 gene probably underlay the pathogenesis of RP in the proband. Above finding has enriched the spectrum of C2ORF71 gene mutations and facilitated genetic counseling for the family.
Asians/genetics* ; China ; Humans ; Mutation ; Pedigree ; Retinitis Pigmentosa/genetics* ; Whole Exome Sequencing