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1.
Acta Anatomica Sinica ; (6): 98-104, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1015157

Résumé

Objective To investigate the risk factors for re-fracture after percutaneous kyphoplasty (PKP) in elderly patients with osteoporotic thoracolumbar compression fractures and to construct a line graph prediction model. Methods One hundred and eighty-two elderly patients with osteoporotic thoracolumbar compression fractures treated with PKP from January 2016 to November 2019 were selected for the study‚ and the patients were continuously followed up for 3 years after surgery. Clinical data were collected from both groups; Receiver operating characteristic (ROC) curve analysis was performed on the measures; Logistic regression analysis was performed to determine the independent risk factors affecting postoperative re-fracture in PKP; the R language software 4. 0 “rms” package was used to construct a predictive model for the line graph‚ and the calibration and decision curves were used to internally validate the predictive model for the line graph and for clinical evaluation of predictive performance. Results The differences between the two groups were statistically significant (P0. 22‚ which could provide a net clinical benefit‚ and the net clinical benefit was higher than the independent predictors. Conclusion BMD‚ number of injured vertebrae‚ single-segment cement injection‚ cement leakage‚ pre-and post-PKP vertebral height difference‚ and posterior convexity angle change are independent risk factors affecting the recurrent fracture after PKP in elderly patients with osteoporotic thoracolumbar compression fracture‚ and this study constructs a column line graph model to predict the recurrent fracture after PKP in elderly patients with osteoporotic thoracolumbar compression fracture as a predictor for clinical. This study provides an important reference for clinical prevention and treatment‚ and has clinical application value.

2.
Chinese Journal of Medical Genetics ; (6): 25-31, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1009348

Résumé

OBJECTIVE@#To explore the early neurodevelopmental features of young children with SYNGAP1 variants and their genotype-phenotype correlation.@*METHODS@#Young children with neurodevelopmental disorders (NDDs) (< 5 years old) who were referred to the Children's Hospital Affiliated to the Capital Institute of Pediatrics between January 2019 and July 2022 were selected as the study subjects. All children had undergone whole-exome sequencing, comprehensive pediatric neuropsychological assessment, familial segregation analysis, and pathogenicity classification. Meanwhile, young Chinese NDD children (< 5 years old) with pathogenic/likely pathogenic SYNGAP1 variants were retrieved from the literature, with information including detailed clinical and genetic testing, neurodevelopmental quotient (DQ) of the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). Children who did not have a detailed DQ but had their developmental status assessed by a medical professional were also included. The correlation between neurodevelopmental severity, comorbidity and SYNGAP1 variants were summarized.@*RESULTS@#Four young NDD children carrying SYNGAP1 variants were recruited (1 male and 3 females, with a mean age of 34.0 ± 18.2 months), among whom one harboring a novel variant (c.437C>G, p.S146*). Combined with 19 similar cases retrieved from the literature, 23 Chinese NDD young children were included in our study (8 males and 10 females, 5 with unknown sex, with a mean age of 37.1 ± 14.2 months). A loss of function (LOF) variant was found in 19 (82.6%) children. All of the children had presented global developmental delay (GDD) before the age of two. In addition, 16 (69.6%) had seizure/epilepsy at the age of 27.0 ± 12.1 months, among whom 15 had occurred independent of the global developmental delay. Myoclonic and absence were common types of seizures. Compared with those with variants of exons 8 to 15, the severity of developmental delay was milder among children with variants in exons 1 to 5.@*CONCLUSION@#The early neurodevelopment features of the SYNGAP1 variants for young children (< 5 years old) have included global developmental delay and seizure/epilepsy. All of the children may present GDD before the age of two. The severity of developmental delay may be related to the type and location of the SYNGAP1 variants.


Sujets)
Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Épilepsie/génétique , Dépistage génétique , Génotype , Troubles du développement neurologique/génétique , Protéines d'activation de la ras GTPase/génétique , Crises épileptiques/génétique
3.
Acta Pharmaceutica Sinica B ; (6): 4748-4764, 2023.
Article Dans Anglais | WPRIM | ID: wpr-1011204

Résumé

Glioblastoma (GBM) is the most common and aggressive malignant brain tumor in adults and is poorly controlled. Previous studies have shown that both macrophages and angiogenesis play significant roles in GBM progression, and co-targeting of CSF1R and VEGFR is likely to be an effective strategy for GBM treatment. Therefore, this study developed a novel and selective inhibitor of CSF1R and VEGFR, SYHA1813, possessing potent antitumor activity against GBM. SYHA1813 inhibited VEGFR and CSF1R kinase activities with high potency and selectivity and thus blocked the cell viability of HUVECs and macrophages and exhibited anti-angiogenetic effects both in vitro and in vivo. SYHA1813 also displayed potent in vivo antitumor activity against GBM in immune-competent and immune-deficient mouse models, including temozolomide (TMZ) insensitive tumors. Notably, SYHA1813 could penetrate the blood-brain barrier (BBB) and prolong the survival time of mice bearing intracranial GBM xenografts. Moreover, SYHA1813 treatment resulted in a synergistic antitumor efficacy in combination with the PD-1 antibody. As a clinical proof of concept, SYHA1813 achieved confirmed responses in patients with recurrent GBM in an ongoing first-in-human phase I trial. The data of this study support the rationale for an ongoing phase I clinical study (ChiCTR2100045380).

4.
Chinese Journal of Preventive Medicine ; (12): 48-51, 2023.
Article Dans Chinois | WPRIM | ID: wpr-969842

Résumé

In this study, Delphi method was used to conduct a questionnaire survey on 12 experts to determine the indicators system and the corresponding weight for early warning features of SARS-CoV-2 Omicron in Tianjin.The positive indexes of experts in three rounds of consultations were both 100%. The experts' authority coefficient was 0.79. The Kendall's W coordination coefficients were 0.375, 0.356 and 0.385 respectively (all P<0.05). The indicators system for early warning features of 2019-nCoV Omicron variant had 5 first-level indicators, 10 second-level indicators and 52 third-level indicators. The weight of each indicator was also determined.


Sujets)
Humains , SARS-CoV-2 , Méthode Delphi , COVID-19 , Enquêtes et questionnaires
5.
Chinese Journal of Medical Genetics ; (6): 269-275, 2023.
Article Dans Chinois | WPRIM | ID: wpr-970917

Résumé

OBJECTIVE@#To analyze the clinical characteristics and spectrum of SPTB gene variants among 16 Chinese children with Hereditary spherocytosis (HS) and explore their genotype-phenotype correlation.@*METHODS@#Sixteen children who were diagnosed with HS at the Affiliated Hospital of Capital Institute of Pediatrics from November 2018 to July 2022 were selected as the research subjects. Genetic testing was carried out by whole exome sequencing. Candidate variants were verified by Sanger sequencing and subjected to bioinformatic analysis and prediction of 3D structure of the protein. Correlation between the SPTB genotypes and clinical phenotypes was analyzed using Chi-squared test.@*RESULTS@#The male-to-female ratio of the HS patients was 6 : 10, with the median age being 7-year-and-10-month. Clinical features of the patients have included anemia, reticulocytosis and gradual onset of splenomegaly. Mild, moderate and severe anemia have respectively occurred in 56.25% (9/16), 31.25% (5/16) and 12.50% (2/16) of the patients. SPTB gene variants were detected in all patients, among which 10 were unreported previously and 7 were de novo in origin. Loss of function (LOF) variants accounted for 93.75% (15/16). Only one missense variant was detected. Eleven, 4 and 1 of the variants had occurred in the repeat domain, CH1 domain, and dimerization domain, respectively. There was no significant correlation between the type or domain of the SPTB gene variants with the clinical features such as severity of anemia (x² = 3.345, P > 0.05). All of the variants were predicted to be pathogenic or likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#Mild to moderate anemia are predominant clinical features of the HS children harboring a SPTB gene variant, for which LOF variants are the main mutational type. The clinical feature of HS is unaffected by the type of the variants.


Sujets)
Enfant , Femelle , Humains , Mâle , Biologie informatique , Dépistage génétique , Génomique , Génotype , Sphérocytose héréditaire/génétique , Peuples d'Asie de l'Est/génétique , Spectrine/génétique
6.
Chinese Journal of Preventive Medicine ; (12): 905-911, 2023.
Article Dans Chinois | WPRIM | ID: wpr-985494

Résumé

Objective: To explore the association between coagulation function indicators and placental abruption (PA) in different trimesters of pregnancy among preeclampsia-eclampsia pregnant women. Methods: From February 2018 to December 2020, pregnant women who participated in the China birth cohort study and were diagnosed with preeclampsia, eclampsia and chronic hypertension with superimposed preeclampsia in Beijing Obstetrics and Gynecology Hospital were enrolled in this study. The baseline and follow-up information were collected by questionnaire survey, and the coagulation function indicators in the first and third trimesters were obtained through medical records. The Cox proportional hazards model was used to analyze the association between the coagulation function indicators and PA. A restrictive cubic spline curve was used to draw the dose-response curve between the relevant coagulation function indicators and PA. Results: A total of 1 340 participants were included in this study. The age was (32.50±4.24) and the incidence of PA was 4.4% (59/1 340). After adjusting for relevant factors, Cox proportional hazards model showed that compared with the high-level classification of fibrinogen (FIB), participants within the middle-(HR=3.28, 95%CI: 1.27-8.48) and low-level (HR=3.84, 95%CI: 1.40-10.53) classification during the first trimester and within the low-level classification (HR=4.18, 95%CI: 1.68-10.39) during the third trimester were more likely to experience PA. Compared with the middle-level classification of pro-thrombin time (PT), the risk of PA in the participants within the low-level classification (HR=2.67, 95%CI: 1.48-4.82) was significantly higher in the third trimester. The restrictive cubic spline analysis showed a linear negative association between FIB and PA in the first and third trimesters, while PT and PA showed an approximately L-shaped association . Conclusion: Among pregnant women diagnosed with preeclampsia-eclampsia, the middle-and low-level classification of FIB in the first and third trimesters and the low-level classification of PT in the third trimester could increase the risk of PA.


Sujets)
Grossesse , Femelle , Humains , Pré-éclampsie/diagnostic , Hématome rétroplacentaire/épidémiologie , Femmes enceintes , Éclampsie , Études de cohortes , Placenta
7.
Chinese Journal of Preventive Medicine ; (12): 899-904, 2023.
Article Dans Chinois | WPRIM | ID: wpr-985493

Résumé

Objective: To analyze the incidence of preterm birth based on pre-pregnancy body mass index (BMI) stratification and explore the associated factors of preterm birth among pregnant women at different BMI stratifications. Methods: From February 2018 to December 2020, pregnant women who participated in China Birth Cohort Study (CBCS) and gave birth at Beijing Obstetrics and Gynecology Hospital were enrolled as the study subjects. Electronic Data Capture System and standard structured questionnaires were used to collect data related to pre-pregnancy, pregnancy, and delivery for pregnant women. Pregnant women were divided into the low-weight group, normal-weight group and overweight group based on their pre-pregnancy BMI. A Cox proportional hazards model was used to analyze the associated factors of preterm birth among pregnant women with different BMI before pregnancy. Results: A total of 27 195 singleton pregnant women were included, with a preterm birth rate of 5.08% (1 381/27 195). The preterm birth rates in the low-weight group, normal-weight group and overweight group were 4.29% (138/3 219), 4.63% (852/18 390) and 7.00% (391/5 586) respectively (P<0.001). After adjusting for relevant factors, the Cox proportional hazards model showed that the risk of preterm birth in the overweight group was 1.457 times higher than that in the normal-weight group (95%CI: 1.292-1.643). Preeclampsia-eclampsia (HR=2.701, 95%CI: 1.318-5.537) was the associated factor for preterm birth in the low-weight group. Advanced maternal age (HR=1.232, 95%CI: 1.054-1.441), history of preterm birth (HR=4.647, 95%CI: 3.314-6.515), vaginal bleeding in early pregnancy (HR=1.613, 95%CI: 1.380-1.884), and preeclampsia-eclampsia (HR=3.553, 95%CI: 2.866-4.404) were associated factors for preterm birth in the normal-weight group. Advanced maternal age (HR=1.473, 95%CI: 1.193-1.818), history of preterm birth (HR=3.209, 95%CI: 1.960-5.253), vaginal bleeding in early pregnancy (HR=1.636, 95%CI: 1.301-2.058), preeclampsia-eclampsia (HR=2.873, 95%CI:2.265-3.643), and pre-gestational diabetes mellitus (HR=1.867, 95%CI: 1.283-2.717) were associated factors for preterm birth in the overweight group. Conclusion: Pre-pregnancy overweight is an associated factor for preterm birth, and there are significant differences in the associated factors of preterm birth among pregnant women with different BMI before pregnancy.


Sujets)
Grossesse , Nouveau-né , Femelle , Humains , Indice de masse corporelle , Surpoids/épidémiologie , Naissance prématurée/épidémiologie , Pré-éclampsie/épidémiologie , Études de cohortes , Éclampsie , Incidence , Facteurs de risque , Maigreur/épidémiologie
8.
Chinese Journal of Oncology ; (12): 621-626, 2023.
Article Dans Chinois | WPRIM | ID: wpr-984758

Résumé

Objective: To evaluate the effect of depth of remission of induction chemotherapy on the overall prognosis of limited stage small cell lung cancer (L-SCLC). Methods: The study was a retrospective, L-SCLC patients who contained complete imaging data and underwent consecutive standardized treatments at the Department of Thoracic Radiation and Medical Oncology, Zhongnan Hospital of Wuhan University between January 2013 and June 2021 were included. To delineate the volume of tumor before and after induction chemotherapy and to calculate the depth of remission caused by the induced chemotherapy. The time receiver operating characteristic (timeROC) method was used to determine the optimal predictors for prognosis, multi-factor analysis using Cox risk proportional model. Results: A total of 104 patients were included in this study. The median PFS and OS of this cohort were 13.7 months and 20.9 months, respectively. It was observed by timeROC analysis that residual tumor volume after induction chemotherapy had the optimal predictive value of PFS at 1 year (AUC=0.86, 95% CI: 0.78~0.94) and OS at 2 years (AUC=0.76, 95% CI: 0.65~0.87). Multivariate analysis showed residual tumor volume after induction chemotherapy was the independent prognostic factor to PFS (HR=1.006, 95% CI: 1.003~1.009, P<0.01) and OS (HR=1.009, 95% CI: 1.005~1.012, P<0.001). For those whose residual tumor volume remitted to less than 10 cm(3) after induction chemotherapy, the favorable long-term outcomes could be achieved, regardless of their initial tumor load. Conclusion: The depth of remission of induction chemotherapy could be a promising prognostic predictor to the L-SCLC and provide the individualized treatment guidance.


Sujets)
Humains , Carcinome pulmonaire à petites cellules/anatomopathologie , Tumeurs du poumon/anatomopathologie , Chimiothérapie d'induction , Études rétrospectives , Maladie résiduelle , Pronostic
9.
Journal of Experimental Hematology ; (6): 1150-1154, 2023.
Article Dans Chinois | WPRIM | ID: wpr-1009972

Résumé

OBJECTIVE@#To explore the genetic mutation mechanism of a rare Rhesus D variant individual.@*METHODS@#Regular serological assay was used for determination of Rh type for the sample. Indirect anti-human globulin test (IAT) was used to confirm the RhD antigen and screen the antibodies. D-screen reagent was used to analyze the RhD epitopes of the sample. RHD genotype and RHD zygosity testing of the sample were detected by palymerase chain reaction with sequence-specific primers (PCR-SSP). The full length coding region of RHD gene was sequenced. RHD mRNA was detected using reverse transcription polymerase chain reaction (RT-PCR). The PCR products were cloned and sequenced.@*RESULTS@#The RhD blood group of the sample was determined as weak D, and the Rh phenotype was CcDEe. The antibody screening was negative. The sample tested with all monoclonal anti-Ds in D-screen showed the D epitope profiles as partial D types. The analysis of RHD gene sequence indicated that the individual with RHD c.845G/A and RHD c.1227G/A base heterozygosis. Three kinds of alternative splicing isoforms were obtained by TA cloning and sequencing.@*CONCLUSION@#The object has RHD c.845G/A and RHD c.1227G/A mutation. This heterozygous mutation is responsible for the low expression of RhD antigen on the red blood cells of the sample.


Sujets)
Humains , Allèles , Antigènes de groupe sanguin , Génotype , Mutation , Phénotype , Réaction de polymérisation en chaîne , Système Rhésus/génétique
10.
Asian Journal of Andrology ; (6): 695-698, 2023.
Article Dans Anglais | WPRIM | ID: wpr-1009798

Résumé

This study aimed to investigate the incidence of patent processus vaginalis (PPV) in pediatric patients with a unilateral nonpalpable testis and explore the associated factors. From May 2014 to April 2017, 152 boys who were diagnosed with a unilateral nonpalpable testis and underwent laparoscopy in Shanghai Children's Hospital (Shanghai, China) were included in this study. The data were collected and reviewed, and the results were analyzed regarding the age at operation, side, development, and position of the nonpalpable testis. The mean age of the patients was 2.6 (standard deviation: 2.3) years. The testis was absent in 14 cases, nonviable in 81 cases, and viable in 57 cases. The incidence of PPV was 37.5% (57 of 152) on the ipsilateral side and 16.4% (25 of 152) on the contralateral side. The ipsilateral PPV was more prevalent when the nonpalpable testis occurred on the right side ( P < 0.01). Besides, patients with a viable testis had a greater incidence of ipsilateral PPV than those with a nonviable or absent testis ( P < 0.01). Moreover, this rate was the highest when the testis was in the abdominal cavity and the lowest when the testis was in the scrotum (both P < 0.01). However, the incidence of contralateral PPV was independent of all the factors. In conclusion, in children with a nonpalpable testis, the incidence of an ipsilateral PPV was significantly related to the side, development, and position of the testis, while it was independent of these factors on the contralateral side.


Sujets)
Mâle , Enfant , Humains , Nourrisson , Enfant d'âge préscolaire , Testicule , Chine , Hydrocèle/chirurgie , Laparoscopie , Scrotum , Hernie inguinale/chirurgie , Cryptorchidie/chirurgie
11.
Biomedical and Environmental Sciences ; (12): 127-134, 2023.
Article Dans Anglais | WPRIM | ID: wpr-970300

Résumé

OBJECTIVE@#This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.@*METHODS@#We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.@*RESULTS@#The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.@*CONCLUSION@#Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.


Sujets)
Humains , bêta-Thalassémie/génétique , alpha-Thalassémie/génétique , Hémoglobinopathies/génétique , Chine/épidémiologie , Séquençage nucléotidique à haut débit
12.
Chinese Journal of Nephrology ; (12): 203-210, 2022.
Article Dans Chinois | WPRIM | ID: wpr-933856

Résumé

Objective:To explore the effects of different blood purification modes on short-term complications, quality of life and survival prognosis of patients with uremia.Methods:The patients with uremia who received hemodialysis treatment at two blood purification centers in the First Affiliated Hospital of Dalian Medical University and Renal Care Hospital from January 1, 2017 to December 1, 2019 were enrolled in this study. According to the different blood purification modes, the patients were divided into high-flux hemodialysis (HFHD) group (HFHD group), HFHD+hemodiafiltration (HDF) per month group (HDF once a month group) and HFHD+HDF per week group (HDF once a week group). The three groups were matched with the ratio of 1∶1∶1 on the duration of hemodialysis based on the HDF once a week group. The differences of clinical indicators, medication and rehospitalization between baseline and end points were compared. The patients were followed up to 12 months after enrolled in the study or death. Patients in each group were divided into two subgroups, newly imported group and non-newly imported group based on whether or not they were newly enrolled in HD therapy from January 1, 2017 to December 1, 2019. Kaplan-Meier survival curve and Cox regression model were used to analyze the difference of survival prognosis in non-newly imported patients with different dialysis modes, and the EuroQol-5 Dimensions (EQ-5D-5L) was used to evaluate the difference of quality of life in newly imported patients after different dialysis modes treatment.Results:A total of 139 patients were enrolled, including 43 cases in the HFHD group, 47 cases in the HDF once a month group, and 49 cases in the HDF once a week group. After treatment, the levels of serum creatinine, serum urea nitrogen and serum potassium in the HDF once a week group were significantly lower than those in the other two groups (both P<0.05). Compared with the other two groups, the consumptions of erythropoietin and intravenous iron, the hospitalization times and hospitalization days in the HDF once a week group were significantly decreased, and the level of albumin in the HDF once a week group were significantly increased (all P<0.05). Kaplan-Meier survival curve analysis of non-newly imported hemodialysis patients showed that the survival rate in the HDF once a week group was higher than that in the other two groups (Log-rank χ2=7.020, P=0.030). Multivariate Cox regression analysis showed that HDF was a protective factor for post-dialysis survival in uremia patients ( HR=0.472, 95% CI 0.188-0.836, P=0.023). The total efficacy of EQ-5D-5L of the newly imported patients in the HDF once a week group was significantly higher than that in the other two groups ( F=7.293, P=0.002). Conclusions:The combination of HFHD with HDF per week therapy can significantly improve the short-term quality of life and nutritional status, and reduce the hospitalization frequency, length of hospital stay, the consumption of erythropoietin and intravenous iron and mortality risk in uremia patients.

13.
Asian Journal of Andrology ; (6): 323-331, 2022.
Article Dans Anglais | WPRIM | ID: wpr-928541

Résumé

We investigated the therapeutic effects of superoxide dismutase (SOD) from thermophilic bacterium HB27 on chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) and its underlying mechanisms. A Sprague-Dawley rat model of CP/CPPS was prepared and then administered saline or Thermus thermophilic (Tt)-SOD intragastrically for 4 weeks. Prostate inflammation and fibrosis were analyzed by hematoxylin and eosin staining, and Masson staining. Alanine transaminase (ALT), aspartate transaminase (AST), serum creatinine (CR), and blood urea nitrogen (BUN) levels were assayed for all animals. Enzyme-linked immunosorbent assays (ELISA) were performed to analyze serum cytokine concentrations and tissue levels of malondialdehyde, nitric oxide, SOD, catalase, and glutathione peroxidase. Reactive oxygen species levels were detected using dichlorofluorescein diacetate. The messenger ribonucleic acid (mRNA) expression of tissue cytokines was analyzed by reverse transcription polymerase chain reaction (RT-PCR), and infiltrating inflammatory cells were examined using immunohistochemistry. Nuclear factor-κB (NF-κB) P65, P38, and inhibitor of nuclear factor-κBα (I-κBα) protein levels were determined using western blot. Tt-SOD significantly improved histopathological changes in CP/CPPS, reduced inflammatory cell infiltration and fibrosis, increased pain threshold, and reduced the prostate index. Tt-SOD treatment showed no significant effect on ALT, AST, CR, or BUN levels. Furthermore, Tt-SOD reduced inflammatory cytokine expression in prostate tissue and increased antioxidant capacity. This anti-inflammatory activity correlated with decreases in the abundance of cluster of differentiation 3 (CD3), cluster of differentiation 45 (CD45), and macrophage inflammatory protein 1α (MIP1α) cells. Tt-SOD alleviated inflammation and oxidative stress by reducing NF-κB P65 and P38 protein levels and increasing I-κBα protein levels. These findings support Tt-SOD as a potential drug for CP/CPPS.


Sujets)
Animaux , Humains , Mâle , Rats , Douleur chronique , Cytokines/métabolisme , Fibrose , Inflammation/métabolisme , Facteur de transcription NF-kappa B/métabolisme , Douleur pelvienne/anatomopathologie , Prostatite/métabolisme , Rat Sprague-Dawley , Superoxide dismutase , Syndrome
14.
Chinese Journal of Medical Genetics ; (6): 1-10, 2022.
Article Dans Chinois | WPRIM | ID: wpr-928350

Résumé

Copy number variants (CNVs) are common causes of human genetic diseases. CNVs detection has become a routine component of genetic testing, especially for pediatric neurodevelopmental disorders, multiple congenital abnormalities, prenatal evaluation of fetuses with structural anomalies detected by ultrasound. Although the technologies for CNVs detection are continuously improving, the interpretation is still challenging, with significant discordance across different laboratories. In 2020, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) developed a guideline for the interpreting and reporting of constitutional copy number variants, which introduced a quantitative, evidence-based scoring framework. Here, we detailed the key points of interpreting the copy number gain based on the guideline, used six examples of different categories to illuminate the scoring process and principles. We encourage a professional understanding and application of this guideline for the detected copy number gains in China in order to further improve the clinical evaluation accuracy and consistency across different laboratories.


Sujets)
Enfant , Femelle , Humains , Grossesse , Variations de nombre de copies de segment d'ADN , Dépistage génétique , Génétique médicale , Génome humain/génétique , Génomique , États-Unis
15.
Chinese Journal of Neonatology ; (6): 439-443, 2022.
Article Dans Chinois | WPRIM | ID: wpr-955274

Résumé

Objective:To study the current neonatal mortality rate and causes of deaths in Chifeng city to further reduce neonatal mortality.Methods:From 2018 to 2019, neonatal mortality data of Chifeng, Inner Mongolia were reviewed. Neonatal mortality, causes of deaths, the distribution of mortality in different groups of neonates and different tiers of hospitals were analyzed.Results:A total of 172 neonatal deaths were included. The top five causes of deaths were asphyxia (23.8%), respiratory distress syndrome (RDS) (22.7%), severe congenital malformation (18.0%), infection (11.6%) and preterm birth (9.3%). Among the 172 neonates, 61 were full-term (35.5%). The leading causes of deaths were asphyxia (34.4%), severe congenital malformation (32.8%) and RDS (13.1%). 111 were premature infants (64.5%), including 16 infants (14.4%) with gestational age (GA)≤30 weeks died without treatment. The leading causes of deaths in premature infants receiving treatment were RDS (29.7%), asphyxia (18.0%) and infection (15.3%). 124 cases (74.0%) were early neonatal death (END) (death within 7 d after birth). The top 3 causes of END in preterm infants were RDS (43.1%), asphyxia (27.7%) and severe congenital malformations (12.3%). The top 3 causes of END in full-term infants were asphyxia (44.2%), severe congenital malformations (23.3%) and RDS (18.6%). 48 cases (26.0%) were late neonatal death (LND) (death after 7 d of age). The top 3 causes of LDN in preterm infants were infection (33.3%), RDS (10.0%) and severe congenital malformations (10.0%).The top 3 causes of LND in full-term infants were severe congenital malformations (55.6%), asphyxia (11.1%) and genetic diseases (11.1%). Compared with Tier II hospitals, the GA [(33.1±4.2) weeks vs. (35.0±5.1) weeks] and the birth weight (BW) [(2 000±480) g vs. (2 620±515) g] were lower in Tier Ⅲ hospitals ( P<0.05). For full-term infants, the proportion of asphyxia as the cause of deaths in Tier Ⅱ hospitals was significantly higher than Tier Ⅱ hospitals ( P<0.05). Conclusions:Neonatal deaths mainly occur within the first week after birth with asphyxia, prematurity, severe congenital malformations, infection and RDS as the leading causes. The causes of deaths of preterm and full-term infants are different at different postnatal ages. For full-term infants, the incidences of deaths due to asphyxia are higher in Tier Ⅱ hospitals than Tier Ⅲ hospitals.

16.
Chinese Pharmacological Bulletin ; (12): 1005-1010, 2022.
Article Dans Chinois | WPRIM | ID: wpr-1014055

Résumé

Aim To investigate the effects of altitude hypoxia on serum sodium valproate eoncentration and eerebral blood distribution.Methods Male mice were divided into control group and plateau group.Each group was given sodium valproate orally and intrave¬nously, respectively.UFLC-MS/MS was used to deter¬mine the concentration of sodium valproate in plasma and brain, and Western blot was used to detect the ex¬pression of P-gp in BBB.Results Compared with the control group, the ratio of brain/blood drug concentra¬tion in plateau group was up-regulated by 44.0% , 57.9% , 176.8% and 184.5% at 10, 30, 60 and 120 min, respectively.The ratio of brain/blood drug con-centration increased by 33.9% , 50.6% and 125.6% at 60 min, 120 min and 240 min in plateau group, re¬spectively.Compared with the control group, the ex¬pression of P-gp protein in BBB of mice in altitude group was significantly down-regulated by 58.46% (P < 0.05 ).Conclusions Compared with the control group, the brain/blood drug concentration ratio of val¬proic acid increases in high altitude hypoxia environ¬ment.Meanwhile, it is found that P-gp expression lev-el decreased in the brain mierovessels of mice under high altitude hypoxia environment, and the cerebral and blood distribution of valproic acid in mic increases in high altitude hypoxia environment.

17.
Chinese Medical Journal ; (24): 2976-2984, 2021.
Article Dans Anglais | WPRIM | ID: wpr-921232

Résumé

BACKGROUND@#Prospective analyses have yet to identify a consistent relationship between sleep duration and the incidence of gastrointestinal (GI) cancers. The effect of changes in sleep duration on GI cancer incidence has scarcely been studied. Therefore, we aimed to examine the association between baseline sleep duration and annual changes in sleep duration and GI cancer risk in a large population-based cohort study.@*METHODS@#A total of 123,495 participants with baseline information and 83,511 participants with annual changes in sleep duration information were prospectively observed from 2006 to 2015 for cancer incidence. Cox proportional-hazards models were used to calculate hazard ratios (HRs) and their confidence intervals (CIs) for GI cancers according to sleep duration and annual changes in sleep duration.@*RESULTS@#In baseline sleep duration analyses, short sleep duration (≤5 h) was significantly associated with a lower risk of GI cancer in females (HR: 0.31, 95% CI: 0.10-0.90), and a linear relationship between baseline sleep duration and GI cancer was observed (P = 0.010), especially in males and in the >50-year-old group. In the annual changes in sleep duration analyses, with stable category (0 to -15 min/year) as the control group, decreased sleep duration (≤-15 min/year) was significantly associated with the development of GI cancer (HR: 1.29; 95% CI: 1.04-1.61), especially in the >50-year-old group (HR: 1.32; 95% CI: 1.01-1.71), and increased sleep duration (>0 min/year) was significantly associated with GI cancer in females (HR: 2.89; 95% CI: 1.14-7.30).@*CONCLUSIONS@#Both sleep duration and annual changes in sleep duration were associated with the incidence of GI cancer.


Sujets)
Femelle , Humains , Mâle , Adulte d'âge moyen , Études de cohortes , Tumeurs gastro-intestinales/étiologie , Incidence , Modèles des risques proportionnels , Études prospectives , Facteurs de risque , Sommeil
18.
Chinese Journal of Hospital Administration ; (12): 196-198, 2021.
Article Dans Chinois | WPRIM | ID: wpr-912722

Résumé

One of the challenges to diagnosis-intervention packet is how to detect and avoid the institutional behavior of pursuing a higher score group. Based on the analysis method of big data, the authors analyzed the objective distribution characteristics of the treatment methods corresponding to a diagnosis, and compared the distribution of diseases with high and low scores in the region to find out the selection trend of treatment methods for the same diagnosis in various hospitals. Combined with hospital positioning, the authors found out whether there was a tendency of pursuing a higher score group. Scientific support will be provided for the reasonable payment of medical insurance expenses and the development planning of hospitals.

19.
Chinese Journal of Hospital Administration ; (12): 191-195, 2021.
Article Dans Chinois | WPRIM | ID: wpr-912721

Résumé

Objective:To explore the price formation method and price standard in the big data diagnosis-intervention packet.Methods:The expenditure data and income data of 95 medical institutions in Shanghai in 2018 were used for analysis, including 33 municipal hospitals and 62 district hospitals. After using the standardized data of disease score, the medical institutions in the region were divided into four quadrants with the regional average of unit price per index and cost per index as the coordinate axis. The best quadrant of income and cost was found out, namely the high quality range. The geometric center was calculated in the high quality range, and the unit price per index of the geometric center was taken as the cost standard.Results:For the district hospitals, there were 20 hospitals in the first quadrant, 8 in the second quadrant, 24 in the third quadrant and 10 in the fourth quadrant; For the municipal hospitals, there were 7 hospitals in the first quadrant, 5 in the second quadrant, 12 in the third quadrant and 9 in the fourth quadrant. In the third quadrant, the average income and cost of medical institutions were lower than the average of the city, and the income could cover the cost. The third quadrant was the high quality range. The unit price per index of the third quadrant geometric center of district hospitals was 14 115.4 yuan, and that in municipal hospitals was 15 559.1 yuan, which could be used as the corresponding cost standard.Conclusions:The price discovery mechanism based on objective data and high-quality interval geometric center method can remove the impact of unreasonable charges or unreasonable behavior on medical income, and reflect the guidance of the standard price of medical insurance payment.

20.
Chinese Journal of Hospital Administration ; (12): 186-190, 2021.
Article Dans Chinois | WPRIM | ID: wpr-912720

Résumé

Medical insurance payment model is transforming from project-based purchases to service bundle-based strategic purchases. The new form of bundled purchases should found on a scientifically-led design process of such bundles. The core to bundled purchase would be the payment standard, and the key to its success would be process control. Establishment of such a foundation, a core, and a key, would promote the current price standards, and lead service providers to a standardized medical service standard, so as to ensure a precise rewarding system of payment and service. The big data diagnosis-intervention packet(DIP)is able to fulfill mentioned ambitions by integrating insurance payment and supervision into one management. DIP is a full-process payment mode that encompasses pre-service estimation, in-service process control, post-service grading, and resource allocation. It is an innovative practice in line with China′s national conditions for the modern governance of medical security and medical services.

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