Objective To preliminarily analyze the genotypic and phenotypic characteristics of glucose-6-phosphate dehydrogenase(G6PD)in blood donors and recipients in Dongguan region,as well as the impact of these characteristics on the efficacy of blood transfusion therapy.Methods A total of 351 pairs of blood sam-ples from donors and recipients were collected from the Tenth Affiliated Hospital of Southern Medical Uni-versity/Dongguan People's Hospital between May and November in 2023.These samples were tested for G6PD genotype,G6PD enzyme activity,erythrocyte osmotic fragility,and blood routine parameters.Addition-ally,hemoglobin levels before and after blood transfusion were collected from recipients for statistical analy-sis.Results The carrier rates of G6PD mutant genes among donors and recipients in Dongguan region were 6.84％and 5.83％,respectively.Six mutation sites were identified,with c.1388G＞A,c.1376G＞T,and c.95A＞G accounting for 84.09％of all mutations.A negative correlation was observed between G6PD activi-ty and blood storage duration in wild-type donors.The G6PD activity significantly decreased when blood from healthy donors was transfused into recipients through standard procedures.Recipients carrying c.1388G＞A,c.1376G＞T,c.95A＞G,c.871G＞A,c.1024C＞T mutation sites showed no statistically significant difference in hemoglobin increment after receiving blood from donors carrying c.1388G＞A,c.1376G＞T,c.95A＞G,c.871G＞A,c.1376G＞T/c.1360C＞T,or c.1388G＞A/c.95A＞G mutation sites.In the internal medicine re-strictive transfusion group,recipients who received blood with enzyme activity≥1300 U/L demonstrated a significantly greater increase in hemoglobin levels compared to those transfused with blood with enzyme activ-ity＜1 300 U/L(P=0.042).Conclusion The carrier rates of G6PD mutant genes among donors and recipi-ents in Dongguan region are both above 5.00％,indicating a relatively high carriage rate.The three primary mutation sites,c.1388G＞A,c.1376G＞T,and c.95A＞G,account for over 80.00％of all mutations.No ad-verse effects on treatment efficacy are observed in recipients carrying G6PD mutant genes after receiving blood from donors with G6PD mutant genes.However,in restrictive transfusion practices within internal medicine,recipients receiving blood with low G6PD enzyme activity demonstrate a reduced hemoglobin increase per unit compared to those receiving blood with normal G6PD enzyme activity.

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS). METHODS: A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4). CONCLUSION The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.
Child ; Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Fetal Growth Retardation ; Fetus ; Filamins/genetics* ; Genetic Counseling ; Mutation ; Osteochondrodysplasias

OBJECTIVE: To determine the type and carrier rate of deafness-related variants in Dongguan, China. METHODS: A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected. RESULTS: In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene. CONCLUSION To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.
China ; DNA Mutational Analysis ; Deafness ; genetics ; Genes ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Humans ; Infant, Newborn ; Mutation ; RNA, Ribosomal

Objective:To explore the problems influencing doctor-patient harmony, and provide basis for im-proving the doctor-patient relationship. Method: China Knowledge Resource Integrated Database ( CNKI) and other databases were retrieved, keywords retrieved"doctor-patient harmony or doctor-patient relationship or doc-tor-patient dispute or doctor-patient conflict or doctor-patient communication or doctor-patient trust", ab-stracts retrieved"problem or challenge or obstacle or crisis" and the retrieval period was set"2009-2016", form-ing a collection of literature. Then boundary analysis method was used to determine whether the problem was satu-rated or not, and finally "macro model of health system" was used to classify and summarize the problems. Re-sults:The problems influencing the doctor-patient harmony can be summarized into 29 categories, covering 5 ma-jor aspects, which were resources, organization, process, results and external environment problems respectively. Conclusion:The various internal problems influencing the doctor-patient harmony interplay and mutually influ-ence, and also interconnect with external macro environment.

Objective To observe the effect of Chinese medicine of replenishing the liver and kidney on the concentration of 5-hydroxytryptamine(5-HT)in hippocampus and the expression of tryptophan hydroxylase 2 (TPH2)in median raphe nuclei in perimenopausal depression model rats and to explore its mechanism.Methods The animal model was established by resecting the ovaries of female rats,then giving isolation-housing in combination with 21 days of chronic unexpected mild stress(CUMS).High performance liquid chromatogram-electrochemical detection(HPLC-ECD)were employed to measure 5-HT in hippocampus,the hemi-quantitative reverse transcription-polymerase chain reaction(RT-PCR)and fluorescence immunohistochemistry were employed to detect the relative expression of TPH2 mRNA and number of TPH2 immunoreactive neurons in median raphe nuclei.Results The concentration of 5-HT in hippocampus was increased in rats of the medicine group compared with that in the model group((2543.06±859.59)ng/g tissue,(1845.81±233.55)ng/g tissue,F=9.617,P＞0.05).RT-PCR showed that the relative expression of TPH2 mRNA in medicine group was much higher than that in model group ((1.282±0.158),(0.985±0.120),F=3.552,P＜0.05).Immunofluorescence showed that the number of TPH2 immunoreaetive neurons in raphe nuclei had statistical significance between medicine group and model group ((152.74±68.52),(74.12±38.01),F=7.939,P＜0.01).Conclusion Chinese medicine replenishing liver and kidney have effects of improving perimenopausal depression,increasing the expression of TPH2 in median raphe nuclei,which leads to enhance the synthesis of 5-HT in hippocampus might be one of its mechanisms.