OBJECTIVE: To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD). METHODS: With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer. RESULTS: Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers. CONCLUSION The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.
Humans ; Fetus ; Chloroform ; Computational Biology ; Ethnicity ; Ribs

Lancang Lahu autonomous county, where the Lancang-Mekong River flows by, was selected as the case site to investigate the traditional medicinal knowledge(TMK). A comparison of TMK between Lancang county and other places in the Lancang-Mekong sub-region was conducted. Research on TMK has been seldom reported although there are abundant medicinal resources in this sub-region. The key informant interview and other methods have been adopted in the field surveys in the past six years. The investigation revealed that there was rich TMK and various herbal medicine resources in Lancang county. A total of 220 folk prescriptions have been collected, which were normally simple with easy processing methods and usages, and most raw materials were freshly used. As for medicinal plants, 121 species in 67 families have been documented. Other findings included that TMK in Lancang county was remained at the level of medication based on experience only. The processing methods of herbal medicines were simple and the bioactive ingredients were not clear. Without text and cultural support for self-teaching, coupled with conservative inheritance, it resulted in massive losses of TMK. The folk doctors have accumulated their factions based on self-study or ancestral experience. There was different treatment experience among folk doctors, but the safety and effectiveness should be paid attention to. The folk doctors used various herbal medicines, but there was a lack of standards or specifications for quality control. Given the problems existing in inheritance and development, conservation strategies were proposed in the present study.
Ethnicity ; Humans ; Knowledge ; Phytotherapy ; Plants, Medicinal ; Rivers

Ethnicity ; Forensic Medicine ; Humans ; Polymorphism, Genetic

OBJECTIVES: This study was carried out to determine the role of p53 and p21 in the pathogenesis of prostatic adenocarcinoma and their association with tumour grade. METHOD: Sixty-seven histologically confirmed prostatic adenocarcinoma cases collected from Hospital Universiti Kebangsaan Malaysia and General Hospital Kuala Lumpur were studied. The formalin-fixed paraffin-embedded tissues were stained with monoclonal antibody p53 (clone DO-7) and p21 (clone SX II8) using standard avidin-biotin complex immunohistochemistry (IHC) after microwave antigen retrieval. The adenocarcinomas were graded histologically according to Gleason score: low grade = score 2-4, intermediate grade = score 5-7, high grade = score 8-10. Histological grade was analysed against IHC expressions of p53 and p21 and against patient age and ethnicity. RESULTS: IHC positivity for p53 was expressed in 1/2 (50%) low grade, 14/33 (42%) intermediate grade, and 21/32 (66%) high grade tumours. p21 was expressed in 0/2 low grade, 16/33 (48%) intermediate grade and 15/32 (47%) high grade tumours. p53 and p21 expressions did not show statistically significant correlation with the different grades of prostatic adenocarcinoma or with each other (p = 0.42). There was no correlation between tumour grade and age or ethnicity. CONCLUSION: Although the p53 positivity rate was higher in high-grade prostate adenocarcinoma, this was not statistically significant. We found that a combined expression of p21 and p53 was not correlated with tumour grade. We could not confirm that p21 expression was dependent on p53 expression.
Grade ; oncoprotein p21 ; Adenocarcinoma of prostate ; overexpress ; ethnicity

Objective To analyze the characteristics of the bilateral external ears of Uygur adults by directly observing the morphological characteristics of the external ears of Uygur adults and classifying each feature. The frequency distribution of the characteristics was calculated to provide reference for forensic identification. Methods The 210 cases （75 males and 135 females） of bilateral external ear photos of Uygur adults in Xinjiang that met the inclusion criteria were collected. The frequencies of the features of the external ear were recorded and distinguished between the two sexes and the different sides. The data were statistically analyzed by SPSS 21.0 statistical software. Results The shapes of the external ears of males and females were commonly oblique or rectangular （34.67% of the left external ear of males and 41.33% of the right were oblique; 30.37% of the left and right external ear of females were rectangular）, while triangular ears were the rare variants and the least common. Sex and bilateral differences were observed as regards the form of the helix in the subjects. Normally rolled helix was the most common （58.67% males and 61.48% females for the left ear; 60.00% males and 72.59% females for the right ear）. Wide covering scapha helix was the most rare for the male left ear and flat helix was the most rare for the female right ear. Square and free earlobes were the most common （49.33% males and 62.96% females for the left ear; 40.00% males and 54.81% females for the right ear）, whereas triangular earlobes were rarely seen. Single knob tragus （40.00% males and 37.78% females for the left ear; 37.33% males and 33.33% females for the right ear） and projection type of Darwin's tubercle （50.67% males and 40.00% females for the left ear; 48.00% males and 39.26% females for the right ear） were found to be common. Conclusion The characteristics of the bilateral external ears of male and female Uygur adults have differences, which can be used for forensic identification.
Adult ; Ear, External ; Ethnicity ; Female ; Humans ; Male ; Sex Characteristics

A cross-sectional study was conducted to determine the physical activity levels of 400 adolescents (13 years old) in Kuantan, Pahang using the Physical Activity Questionnaire for Older Children (PAQ-C). The associations of physical activity levels with sex, ethnicity and body mass index were also determined. About one third (35.3%) of the adolescents were in the low physical activity level category, 61.5% in the moderate physical activity level and only 3.0% of the adolescents were in the high physical activity level category. More males (77.9%) were physically active than females (54.9%). Twice as many female adolescents (45.1%) were in the low physical activity level category compared to the male adolescents (22.1%). The associations between physical activity with ethnicity and body mass index were not significant. However, there was a significant interaction effect of sex and ethnicity in mean physical activity score (F = 2.36, p<0.01). Malay males had a significantly higher mean physical activity score as compared to Chinese males (t=2.13; p<0.05). Although Chinese females had a higher mean physical activity score than Malay females, the difference was not statistically significant. Conversely, there was no interaction effect of sex and BMI status in mean physical activity score. This study suggests that physical activity intervention to promote regular physical activity is needed since a high proportion of the adolescents fall within the low physical activity level category.
Physical activity ; Gender ; ethnicity ; Body Mass Index ; ethnic

"Unblocking fu organs" is one of the essential principles of Ma's warm moxibustion technique, characterized as "dredging" and "harmonizing" for either deficiency or excess condition. Under the guidance of this therapeutic thought, the acupoints for moxibustion are mainly selected from the middle and lower parts of the body. Regarding the therapeutic approach, the acupoint prescription for moxibustion should be formed in line with warming and promoting circulation of fu organs; the moxibustion degree should be specially considered, in which, the mild moxibustion is recommended to induce promoting action; and the systematic moxibustion technique should be the root for dredging fu organs and regulating zang organs. Ma's mild moxibustion technique stresses on removing the obstruction of fu organs and emphasizes promoting the qi activity of sanjiao (triple energizer) and regulating the balance of five zang organs.
Acupuncture Points ; Acupuncture Therapy ; Ethnicity ; Humans ; Hyperplasia ; Moxibustion/methods*

Adult ; Humans ; Cardiovascular Diseases ; East Asian People ; Hypertension ; Prevalence ; Risk Factors ; Ethnicity

OBJECTIVE: To explore the genetic etiology of a child with Hypomagnesemia, epilepsy and mental retardation syndrome (HSMR). METHODS: A child who was admitted to the Children's Hospital of Shandong University on July 9, 2021 due to repeated convulsions for 2 months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his pedigree members were collected for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 1-year-and-7-month-old male, had presented with epilepsy and global developmental delay. Serological testing revealed that he has low serum magnesium. Genetic testing showed that the child has harbored a heterozygous c.1448delT (p.Val483GlyfsTer29) variant of the CNNM2 gene, which was de novo in origin. The variant has caused substitution of the Valine at position 483 by Glycine and formation of a termination codon after 29 amino acids at downstream. As predicted by Swiss-Model online software, the variant may alter the protein structure, resulting in a truncation. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1448delT (p.Val483GlyfsTer29) was predicted as a pathogenic variant (PVS1+PS2+PM2_Supporting+PP4). CONCLUSION The heterozygous c.1448delT variant of the CNNM2 gene probably underlay the HSMR in this child. Above finding has enriched the phenotype-genotype spectrum of the CNNM2 gene.
Humans ; Male ; Cation Transport Proteins ; Computational Biology ; Ethnicity ; Intellectual Disability/genetics* ; Magnesium ; Mutation ; Seizures/genetics* ; Infant

OBJECTIVE: To explore the clinical and genetic characteristics of a child with Arrhythmogenic right ventricular cardiomyopathy (ARVC). METHODS: A 6-year-old boy with ARVC who had visited Fujian Provincial Children's Hospital on August 23, 2022 was selected as the study subject. Relevant clinical data were collected, and peripheral venous blood samples were collected from the child and his parents for genetic testing through whole exome sequencing (WES). Sanger sequencing was carried out for family verification, and pathogenicity analysis was conducted for the candidate variants. RESULTS: The child had exhibited clinical symptoms including systemic edema, generalized heart enlargement, universal reduction of interventricular septum and ventricular wall movement, reduced left ventricular diastolic and systolic function, and reduced right ventricular systolic function. WES revealed that the child has harbored compound heterozygous variants of the PKP2 gene, namely c.119_122del (p.Leu40ArgfsTer71) and c.1978G>A (p.Gly660Arg), which were verified by Sanger sequencing to be respectively inherited from his father and mother. The c.119_122del variant has not been recorded in the 1000 Genomes, gnomAD and ExAC databases, and was predicted to lead to truncation of the PKP2 protein by SWISS-MODEL and PyMOL online software and classified as likely pathogenic based on the guidelines jointly developed by the American College of Medical Genetics and Genomics (ACMG) and ClinGen. The c.1978G>A variant has also not been recorded in the 1000 Genomes, gnomAD and ExAC databases, and was predicted to be deleterious by online software including REVEL, SIFT, CADD, Mutation Taster, and PolyPhen-2. The amino acid encoded by the variant site was highly conserved among various species by analysis using T-coffee and ESPript v3.0 online servers. The variant may affect the protein function by SWISS-MODEL and PyMOL online server analysis, and was classified as likely pathogenic based on the guidelines jointly developed by the ACMG and ClinGen. CONCLUSION The compound heterozygous variants of c.119_122del (p.Leu40ArgfsTer71) and c.1978G>A (p.Gly660Arg) of the PKP2 gene probably underlay the ARVC in this child. Above finding has broadened the spectrum of PKP2 gene variants and provided a reference for the diagnosis and genetic counseling.
Male ; Child ; Humans ; Arrhythmogenic Right Ventricular Dysplasia/genetics* ; Diastole ; Ethnicity ; Genetic Counseling ; Genetic Testing ; Plakophilins/genetics*