Objective:To summary the clinical phenotype and genotype characteristics of 2 cases of autosomal dominant mental retardation (MRD) caused by TRIO gene variation. Methods:Retrospective study of the clinical data of 2 cases of autosomal dominant MRD caused by TRIO gene mutations diagnosed at the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in April 2019 and January 2023 was conducted. The clinical features were summarized and gene analysis and follow-up were carried out. Results:The 2 patients were 6 years and 5 months old and 5 months old males, respectively. Clinical manifestations included seizures, cognitive and motor disorders, low intelligent development; case 1 had microcephaly, attention deficit disorder, ataxia, and aggressive behavior, and case 2 had macrocephaly. Brain magnetic resonance imaging revealed cerebellar atrophy in case 1, and non-specific dilation of the subarachnoid space and hypoplasia of the corpus callosum in case 2. Analysis of chromosome karyotype and chromosome copy number variation in 2 children showed no abnormalities. Whole exome sequencing revealed novel missense mutations in the TRIO gene in both patients [NM_007118:c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn), respectively]. The application of rehabilitation function training and a variety of anti-seizure medications can not fully and effectively control the seizure. Conclusion:TRIO gene c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn) de novo missense variants were the genetic etiology of the 2 probands,causing rare autosomal dominant MRD type 44 and 63.

Neurogenesis decline in hippocampal dentate gyrus (DG) participates in stress-induced depressive-like behaviors, but the underlying mechanism remains poorly understood. Here, we observed low-expression of NOD-like receptor family pyrin domain containing 6 (NLRP6) in hippocampus of stress-stimulated mice, being consistent with high corticosterone level. NLRP6 was found to be abundantly expressed in neural stem cells (NSCs) of DG. Both Nlrp6 knockout (Nlrp6^-/-) and NSC-conditional Nlrp6 knockout (Nlrp6CKO) mice were susceptible to stress, being more likely to develop depressive-like behaviors. Interestingly, NLRP6 was required for NSC proliferation in sustaining hippocampal neurogenesis and reinforcing stress resilience during growing up. Nlrp6 deficiency promoted esophageal cancer-related gene 4 (ECRG4) expression and caused mitochondrial dysfunction. Corticosterone as a stress factor significantly down-regulated NLRP6 expression, damaged mitochondrial function and suppressed cell proliferation in NSCs, which were blocked by Nlrp6 overexpression. ECRG4 knockdown reversed corticosterone-induced NSC mitochondrial function and cell proliferation disorders. Pioglitazone, a well-known clinical drug, up-regulated NLRP6 expression to inhibit ECRG4 expression in its protection against corticosterone-induced NSC mitochondrial dysfunction and proliferation restriction. In conclusion, this study demonstrates that NLRP6 is essential to maintain mitochondrial homeostasis and proliferation in NSCs, and identifies NLRP6 as a promising therapeutic target for hippocampal neurogenesis decline linked to depression.

Objective To analyze the effect of HIV/AIDS patients receiving antiretroviral therapy (ART) for the first time in Jiangyin, and to provide a reference for further improvement of Jiangyin's AIDS antiretroviral treatment. Methods The historical cards and related information in the treatment management database of Jiangyin City's cases who received ART for the first time from 2005 to 2019 were collected and statistically analyzed. The changes in viral load and CD4+ T lymphocytes (CD4 cells) before and after treatment were compared. Results Among 652 patients receiving ART, 507 cases (77.76%) were successful in virological treatment. The median natural change rate of annual average CD4 cell count was 90.8 cells/μL/year (χ²=37.915, P<0.05; H=9.781, P<0.05). There were statistically significant differences in virological treatment and immune recovery between different age groups (χ²=10.713, P<0.05; H =10.394, P<0.05) and different baseline CD4 count layers. The results showed that age and baseline CD4 value were the influencing factors of treatment effect. Conclusion Age and baseline CD4 value can affect the effect of ART treatment. The older the age and the lower the baseline CD4 value, the worse the virological efficacy and the recovery effect of CD4 cells. It is suggested that the infected patients should be involved in ART in time, which is conducive to shorten the time of initial treatment and further improve the effect of antiviral treatment.

Objective:To explore the effect of comprehensive follow-up mode in patients with chronic obstructive pulmonary disease (COPD) .Methods:From February to June 2019, a total of 80 COPD patients in The First Affiliated Hospital of Guangxi Medical University were enrolled and divided into the control group and the comprehensive follow-up group (40 cases in each group) . All patients were given home rehabilitation program guidance and health education. The control group was followed up using telephone, while the comprehensive follow-up group were followed up by telephone combined with Internet which lasted for one year. The differences of pulmonary function, motor function, compliance and recurrence between the two groups were compared.Results:One year after discharge, percentage of forced vital capacity to the predicted value (FVC%) , percentage of forced expiratory volume in one second to the predicted value (FEV1%) , 6 minutes walking distance, SF-36 quality of life and rehabilitation compliance rate in the comprehensive follow-up group were higher than those of the control group, while CAT score, mMRC score, number of patients with acute attack of COPD and recurrence rate were lower than those of the the control group, and the differences were statistically significant ( P<0.05) . Conclusions:For CPOD patients, the comprehensive follow-up mode can effectively reduce the 1-year recurrence rate, promote the recovery of respiratory and motor functions, and improve compliance and quality of life.

OBJECTIVE: To establish a headspace gas chromatography-mass spectrometry method for the determination of 14 chlorinated hydrocarbons in urine. METHODS: The urine sample 4.00 mL and anhydrous sodium sulfate 3.00 g were added into a 10.00 mL headspace bottle, then the headspace bottle was maintained at 70 ℃ for 40.0 min. After headspace pretreatment, 14 chlorinated hydrocarbons in headspace air were separated in the DB-5 MS capillary column of the gas chromatography and detected by mass spectrometer. RESULTS: There was a good linear relationship of 14 chlorinated hydrocarbons in urine in the range of 0.62-1 630.00 μg/L. The linear correlation coefficient was greater than 0.999 0.The minimum detectable concentration was 0.19-0.43 μg/L and the minimum quantitative concentration was 0.62-1.44 μg/L. The average recovery rate was 89.8%-107.1%. The within-run relative standard deviation(RSD) was 4.0%-8.5% and the between-run RSD was 6.3%-9.1%. Urine samples can be stored at 4 ℃ or-8 ℃ for 3 days and below-20 ℃ for 7 days. CONCLUSION: This method is rapid, simple, sensitive, accurate and has little interference,which can be used as a method for detecting 14 kinds of chlorinated hydrocarbons in urine samples of patients with occupational poisoning.

OBJECTIVE: To establish a method for detecting dichloromethane,trichloromethane and 1,2-dichloroethane in blood by gas chromatography-mass spectrometry. METHODS: Using static headspace analysis, three halogenated hydrocarbons in blood samples were separated by DB-5 MS elastic capillary column and detected by gas chromatographymass spectrometry. RESULTS: There was a good linear relationship in the selected range of dichloromethane,trichloromethane and 1,2-dichloroethane in blood. The linear correlation coefficient was greater than 0. 999 8. The detection limit and the lower limit of quantitation was 0. 19-0. 28 and 0. 64-0. 93 μg/L,respectively. The average recovery rate was 95. 1%-106. 6%. The within-run and between-run relative standard deviation was 2. 9%-4. 9% and 5. 0%-7. 0%,respectively. The samples could be preserved at room temperature or 4 ℃ for 3 days and at-8 ℃ or below for7 days. CONCLUSION: With the features of high sensitivity,precision,accuracy,easy operation and less interference,this method is suitable for detecting dichloromethane,trichloromethane and 1,2-dichloroethane in the blood.

To construct a competency model for junior caregivers for the elderly and to provide a reference for the selection, evaluation and training for the junior caregivers for the elderly.
 Methods: Firstly, we drafted the primary competency model for junior caregivers for the elderly through literature review. Then, we used Delphi method to carry out 2 rounds of questionnaire survey for 20 experts to optimize the indicators for primary model. The weight of each indicator is determined by analytic hierarchy process (AHP) and expert sequencing method.
 Results: The effective recovery rates of the two-round questionnaire were 87% and 100%, respectively. The expert authority coefficient was 0.70-0.93, and the average authority coefficient was 0.80. The final version of the competency model for junior caregivers for the elderly included 4 first-grade indexes, 11 second-grade indexes and 37 third-grade indexes.
 Conclusion: The competency model for the junior caregivers for the elderly is reliable and can be used as the reference standard for the selection, evaluation and training for the junior caregivers for the elderly.
Aged ; Caregivers ; standards ; Clinical Competence ; Delphi Technique ; Health Services for the Aged ; standards ; Humans ; Medical Staff, Hospital ; standards ; Reference Standards ; Surveys and Questionnaires

Objective To identify the effect of both high glucose and high insulin on miR-145 level.Methods The human vascular smooth muscle cells ( VSMCs) were cultured and the proliferation of VSMCs was induced by high glucose and high insulin medium.The samples were divided into 4 groups: normal group, high glu-cose group (25 mmol/L), high insulin group (300 mU/L), high glucose and high insulin group.The ex-pression of miR-145 in VSMCs was assayed by real-time PCR.Proliferation of VSMCs was determined by MTT method After 72 h cultivation.The migration of VSMCs was analyzed by cell scratch test .VSMCs in each group was transfected by miR-145 virus ( lentiviral vector ) .Proliferation and migration were assayed after 48 h transfection.Results The expression of miR-145 in VSMCs of other three groups was decreased ( P<0.05 ) , especially the expression in the high glucose and insulin group was the lowest ( P<0.01 ) .Prolifera-tion and migration of VSMCs was promoted by high glucose and/or high insulin medium.Under fluorescent, transfection rate of VSMCs was about 80%after 48 h transfection.Proliferation and migration of VSMCs in each group after transfection were significantly lower than before ( P<0.05 ) .Conclusions High glucose and high in-sulin could decrease the expression of miR-145 in VSMCs, The overexpression of miR-145 may inhibit the prolif-eration and migration of VSMCs .

Objective To observe the features of a rare Miao pedigree of Bardet-Biedl syndrome in Yunnan province and to reserve its gene. Methods Three patients of this pedigree were reported. Their clinical and biochemical features were compared with those of the other pedigree members. Lymphocytes from main members of this pedigree were collected and transformed with cyclosporine A methods. Immortalized B lymphocyte strains were checked by means of chromosome karyotype analysis. Results Patients of this pedigree demonstrated typical clinical characteristics of this syndrome with increased body weight, blood pressure, fasting glucose, and lipoprotein(a)as compared with the other pedigree members(P＜0. 05). The chromosome karyotype of the lymphocytes before and after transformation was kept consistent. Conclusions Patients of this Miao pedigree showed typical clinical characteristics of this syndrome as well as abnormal metabolic features. Immortalized B lymphocyte strains with their genetic information were set successfully.

Objective To explore the psychological stress of young nurses facing patients' death. Methods Young nurses in emergency department, ICU and hospice care ward (96 cases, research group) and young nurses in other departments(94 cases,control group)from 8 general hospitals were investigated by self-rating anxiety scale (SAS)and serf-rating depression scale (SDS).The results underwent comparison and analysis. Results SAS and SDS score,incidence of anxiety and depression in the research group were higher than those of the control group (P ＜ 0.05). Conclusions Young nurses who face patients' death frequently have high incidence rate of psychological stress.They show low psychological health level which deserves the close attention of nursing managers.