Objective:To analyze the mutation spectrum and hematological phenotype of hemoglobin subunit delta(HBD) gene among prenatal population in Xiangtan City, and to provide scientific basis for screening and diagnosis of rare and complex hemoglobinopathia.Methods:Prenatal population underwent screening and genetic testing for thalassemia at Xiangtan Maternal and Child Health Hospital from October 2022 to December 2023 were selected as the study subjects, combined with capillary electrophoresis results, further HBD gene sequencing was performed to identify specific genotypes.Results:A total of 5 371 subjects were enrolled, 22 cases of HBD gene mutations were detected, with a mutation carrier rate of 0.41% (22/5 371). Among them, 14 cases were diagnosed with δ thalassemia, 7 cases were δ abnormal hemoglobin, and 1 case was δ thalassemia combined with δ abnormal hemoglobin. There were 7 HBD mutant genotypes were included, with -77(T>C) being the most common, followed by hemoglobin (Hb) A 2-Huadu and CD34(+GGT); accounting for 68.2% (15/22), 9.1% (2/22), 9.1% (2/22). CD34(+GGT) was a newly discovered genotype, and CD7(GAG>TAG) was the first reported genotype in Chinese population. The Hb content, mean corpuscular volume, and mean corpuscular hemoglobin content were normal or nearly normal in 22 carriers of the HBD gene mutation; capillary electrophoresis demonstrated reduced Hb A 2 content in all cases. Conclusions:HBD gene mutations have been detected in the prenatal population in Xiangtan City, with -77(T>C) being the most common mutation genotype. None of the mutation carriers showed anemia.

Objective:To investigate the effect and mechanism of the gastric cancer cells-derived exosome miR-382-5p in-duced by Helicobacter pylori(H.pylori)on the autophagy and polarization of macrophages,providing new clues for further elucidating the carcinogenic mechanism of H.pylori.Methods:Ultracentrifugation and exosome extraction kit were used to extract the exosomes re-leased by the H.pylori stimulated group and the blank control group AGS cells cells,then transmission electron microscopy(TEM),nanoparticle tracking analysis(NTA)and Western blot were employed to identify exosomes.qRT-PCR was used to detect the expres-sion of miR-382-5p in H.pylori induced AGS-derived exosomes.miR-382-5p mimic was transfected into THP-1 macrophages,then the expressions of autophagy markers(LC3Ⅱ,p62,and Beclin-1)were evaluated by Western blot,the number of autophagosomes was detected by immunofluorescence.The expression levels of PTEN protein,downstream proteins PI3K,AKT,mTOR and its phosphory-lated proteins p-PI3K,p-AKT,p-mTOR were detected by Western blot.Flow cytometry was used to detect the expression levels of macrophage phenotypic molecules CD206 and HLA-DR.ELISA was used to detect the secretion of cytokines TNF-α,IL-6,IL-10 and Arginase1 in macrophage supernatants.Results:The extracted exosomes were consistent with exosome morphology and highly ex-pressed the surface marker proteins CD9,CD63 and TSG101.Compared with the blank control group,the expression level of exosom-al miR-382-5p in H.pylori-infected group was significantly increased.miR-382-5p mimic transfection resulted in decreased expression of LC3 Ⅱ and Beclin-1 in macrophages,increased expression of P62 and decreased number of autophagosomes.Moreover,the protein expression level of PTEN was significantly decreased in the miR-382-5p mimic transfection group,while the expression levels of p-PI3K,p-AKT and p-mTOR were significantly increased.miR-382-5p mimic transfection also resulted in increased expression of mac-rophage M2 type marker protein CD206 and decreased expression of M1 type marker protein HLA-DR,as well as increased expres-sions of IL-10 and Arginine1,whereas decreased expression of IL-6 and TNF-α.Pretreatment with the pathway inhibitor BEZ235 par-tially reverses the effects of miR-382-5p on macrophage autophagy and polarization.Conclusion:H.pylori-induced gastric cancer cells-derived exosomal miR-382-5p suppresses macrophage autophagy and induces M2 polarization through down-regulation of PTEN ex-pression and activation of the PI3K/AKT/mTOR signaling pathway.

Acute kidney injury (AKI) is one of the most common diseases worldwide, and its incidence and mortality rate are increasing year by year. The key to improve the prognosis of AKI is early diagnosis and early intervention. As an endogenous nephrotoxic substance, the increase or decrease of serum calcium has a certain suggestive effect on the diagnosis and treatment of AKI. We reviewed the research progress of the relationship between serum calcium and AKI, to improve clinicians' understanding of the role of serum calcium in the diagnosis and treatment of AKI.

Objective:To statistically analyze SCI paper output and research hotspots of Chinese stomatology research institutes from 2011 to 2020.Methods:The papers of Chinese stomatology research institutions in the Web of Science database were searched and analyzed by bibliometric methods in various dimensions including publication time, institutional and journal distribution, international (regional) cooperation, and research hotspots.Results:The number and quality of publications in Chinese dental research institutions have increased significantly in the past decade, and the top four institutions in terms of publication number were Sichuan University, Peking University, Shanghai Jiaotong University, and Air Force Military Medical University. The distribution of the journals to which the articles belong was relatively scattered, and the research hotspots mainly focused on squamous cell carcinoma, periodontitis, bone regeneration, and materials science.Conclusions:The output of SCI papers and the number of high-quality papers in Chinese stomatology research institutions increased year by year during 2011-2020, and the scientific research strength continued to increase.

Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.

Objective: To examine the association of sedentary behaviors with visual acuity among primary school children, and to provide a reference basis for the prevention and control of poor vision. Methods: Using stratified random cluster sampling method, a total of 4 969 students in grade 1-4 were selected from 5 primary schools in Guangzhou in 2017, and then were followed up in 2019. A validated questionnaire was used to collect data on children s sedentary behaviors, including doing homework, watching TV, playing computer/video games, and taking the bus/car between home and school. Visual acuity was measured in the baseline and the follow up using a 5 m standard logarithmic visual acuity chart. Multiple linear regression and Logistic regression were conducted to analyze the relationship between sedentary behaviors and visual changes. Results: The two year cumulative incidence of poor vision was 48.74%. Homework time was inversely associated with visual acuity of left eye( β=-0.012, 95%CI =-0.023- -0.002 ). Homework time was positively correlated with poor vision( OR =1.16, 95% CI =1.05-1.27). However, total sedentary time, screen time and bus/car time were not statistically associated with changes in visual acuity( P >0.05). Conclusion Increased homework time was associated with poorer vision in primary school students. Interventions to reduce the academic burden should be taken.

Objective:To investigate the differentially expressed microRNAs (miRNAs) in human gastric carcinoma SGC-7901 cell-derived exosomes induced by Helicobacter pylori ( H. pylori), providing new clues for further elucidating the carcinogenic mechanism of H. pylori. Methods:Ultracentrifugation and exosome extraction kit were used to extract the exosomes released by the H. pylori-stimulated and negative control group, and transmission electron microscope(TEM), nanoparticle tracking analysis(NTA) and Western blot experiments were employed to identify exosomes. Then, exosomes were labeled with the fluorescent dye PKH67 and co-cultured with THP-1-derived macrophages. The internalization of exosomes by macrophages was observed by laser confocal fluorescent microscopy. Additionally, miRNA microarray chips were performed to detect the differentially expressed miRNAs of exosomes from the two groups of cells. Real-time fluorescence quantitative PCR (qRT-PCR) was used to verify the expression of four differentially expressed miRNAs. Furthermore, the target genes and their functions as well as the possible signal pathways involved of partial differentially expressed miRNAs were predicted and analyzed by bioinformatics software. Differentially expressed miR-382-5p was labeled by Cy3 to observe whether it could be transferred to macrophages through exosomes. The expression of phenotype molecule CD206 and the cytokines TNF-α, IL-6 and IL-10 in miR-382-5p mimic-transfected macrophages were analyzed by qRT-PCR and ELISA, and the proportion of cells expressing CD206 and HLA-DR was analyzed by flow cytometry. Results:The extracted exosomes were consistent with exosome morphology and highly expressed the surface marker proteins CD9, CD63 and TSG101. After co-culturing with THP-1 derived macrophages for 12 h, the exosomes could be internalized by macrophages. Compared with the control group, there were 130 up-regulated miRNAs and 111 down-regulated miRNAs in the H. pylori-stimulated group. Bioinformatic analysis showed that the potential target genes of partial differentially expressed miRNAs were mainly involved in the regulation of PI3K-AKT, NF-κB, JAK-STAT, stem cell pluripotency and other inflammation and tumor-related pathways. miR-382-5p could be transferred to macrophages through exosomes, and induced the expression of M2-type phenotype molecule CD206 and cytokines IL-10 in macrophages, while inhibited the expression of TNF-α and IL-6 and increased the proportion of CD206 high HLA-DR low cells. Conclusions:H. pylori treatment caused a significant change in the expression level of exosome miRNAs in SGC-7901 cells. Bioinformatics analysis demonstrated that the prospective targets of these differentially expressed miRNAs might play an important role in the regulation of inflammation and tumor-related signaling pathways. miR-382-5p might induce the M2-type polarization of macrophages.

Objective: To investigate the associations of reallocating sedentary time to different activity behaviors with body composition, and to provide a reference for prevention and control of childhood obesity. Methods: By using cluster random sampling, 1 621 students from 5 urban primary school in Guangzhou were selected in 2017. Vigorous intensity physical activity (VPA), moderate intensity physical activity (MPA), walking, sedentary behavior, and sleeping were measured by self-reported questionnaire. Inbody 230 was used to assess body composition. Multiple linear regression models were applied to examine isotemporal substitution effect of activity behaviors. Results: In younger children group (aged 6-9 years), replacing 30 min/day sedentary with VPA was associated with a 0.9% lower fat-free mass index(FFMI)(β=0.11, P=0.00). In older children group (aged 10-12 years), replacing 30 min/day sedentary with VPA was associated with a 1.0% lower FFMI(β=0.13, P=0.04); replacing 30 min/day sedentary to walking was associated with both a 2.9% lower percentage of body fat(PBF)(β=-0.65, P<0.01) and a 4.0% lower fat mass index(FMI)(β=-0.18, P=0.00). Conclusion Replacing sedentary with other intensities of physical activity is crucial for improving fatness status among children aged 6 to 12 years, especially among children aged 10 to 12 years. This current study suggests that children should increase physical activity while reducing sedentary for reducing risk of childhood obesity.

Objective: To investigate the incidence and risk factors of postoperative acute renal injury (AKI) in patients after primary unilateral hip and knee replacement. Methods: Between January 2016 and July 2018, A total of 1 490 patients underwent hip and knee arthroplasty were enrolled. There were 507 male and 983 female with a median age of 66 years (range: 18 to 95 years). There were 201 patients underwent femoral head replacement, 897 total hip arthroplasty and 392 total knee arthroplasty, respectively. The creatinine value was 68.79 μmol/L preoperatively. Demographic, perioperative and postoperative data were recorded. The development of AKI was defined according to Kidney Disease Improving Global Outcomes (KDIGO) criteria. The demographic information, comorbidities, preoperative medication, type of surgery, type of anesthesia, intraoperative anesthetics, operation time, intravenous fluid type and dose, amount of bleeding and postoperative creatinine values were recorded. Predictors associated with AKI and postoperative creatinine was determined by multiple regressions. Results: There were 80 cases developed AKI with the incidence of AKI 5.4%. Among the AKI patients, there were 69 cases (4.6%) in AKI stage 1, 7 cases (0.5%) in AKI stage 2, and 4 cases (0.3%) in AKI stage 3. The creatinine value was 72.03 μmol/L after surgery. The length of postoperative hospital stay was 9 days. There were 5 patients died in hospital. The independent risk factors of AKI after hip and knee arthroplasty included old age, a higher American Society of Anesthesiologists (ASA) grade and preoperative diabetes (P<0.05). The risk of postoperative AKI in patients aged 60-69 years, 70-79 years, and older than 80 years was 2.259, 2.798, and 6.049 times than that of patients under 60 years of age, respectively. The risk of postoperative AKI in patients with ASA grade II, III, and IV was 3.749, 9.023, and 21.595 times than that of ASA grade I patients, respectively. The risk of AKI in patients with diabetes before surgery was 2.377 times higher than that in non-diabetics. Age, diabetes, hypertension and preoperative serum creatinine were positively correlated with postoperative creatinine values (P<0.05). Intensive care unit admissions were greater in AKI patients than that in non-AKI patients (25.0%, 5.6%, χ²=-6.774, P<0.001). Compared with non-AKI patients, the postoperative length of hospital stay was longer in AKI patients (Z=-3.904, P<0.001). Conclusion The incidence of postoperative AKI after primary hip and knee replacement was 5.4%. The older age, ASA grade, and diabetes were independently associated with risk of AKI. Old age, male, preoperative diabetes, hypertension and a higher preoperative creatinine value can predict postoperative increased creatinine levels at postoperation. The risk factors for AKI included old age, a higher ASA grade and diabetes. The postoperative length of hospital stay was longer in AKI patients.

OBJECTIVE: To characterize the traits of neuropsychological functioning deficits in patients with attention-deficit/ hyperactivity disorder (ADHD) with comorbid disruptive, impulse-control, and conduct disorders (DICCD). METHODS: Twenty out-patients with ADHD, 20 with ADHD with comorbid DICCD, and 20 with DICCD, all aged 6-16 years, were enrolled in this study, with 20 healthy subjects matched for age, gender and IQ serving as the healthy controls. The patients were diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Revision (DSM-5). All the subjects were assessed with Golden Stroop test and emotional Stroop test to evaluate their response inhibition and emotional responding. RESULTS: In Golden Stroop test, the interference scores (IGs) of errors and reaction time both differed significantly among the groups ( < 0.05), and were the highest in patients with ADHD only. In emotional Stroop test, the mean reaction time (MRT) showed significant differences among the groups ( < 0.05); the MRT of positive- congruent trials in ADHD with comorbid DICCD group was shorter than that in ADHD group but longer than that in group DICCD; the MRT in the 3 case groups were all longer than that in the control group. The MRT of both positive-incongruent trials and negative-congruent trials in ADHD with comorbid DICCD group and DICCD group was shorter than that in ADHD group but longer than that in the control group. The MRT of negative- incongruent trials in DICCD group was shorter than that in ADHD group and ADHD with comorbid DICCD group but longer than that in the control group. CONCLUSIONS The response inhibition deficit and abnormal emotional responding are the core symptoms of ADHD. Bias emotional stimuli may render response inhibitory dysfunction in patients with DICCD with callous-unemotional traits of emotional responding disorder, especially in dealing with negative emotional trials, while the comorbidity of ADHD and DICCD tends to have the emotional response trait of DICCD.
Adolescent ; Attention Deficit Disorder with Hyperactivity ; diagnosis ; physiopathology ; Attention Deficit and Disruptive Behavior Disorders ; diagnosis ; physiopathology ; Case-Control Studies ; Child ; Comorbidity ; Diagnostic and Statistical Manual of Mental Disorders ; Emotions ; Humans ; Reaction Time ; Stroop Test