Objective To explore a method of calculating the paternity index(PI)in parentage testing of both paternal and maternal mutations.Methods In this study,the general formulas of PI in parentage testing were derived based on Mendel's laws of inheritance and mutation basic model first.Subsequently,on the basis of the general formula,parentage testing of both paternal and maternal mutations were classified into 8 types according to child-mother-father genotypes.From,these classifications,detailed formulas of PI in alleged father cases(PIAF)and PI in alleged parent cases(PIAP)were further refined.Finally,a simulation experiment was designed to generate 10,000 parents composed of unrelated individuals on 19 autosomal loci of the EX20 kit,and the percentages of mutations of confirming group(c group),single mutant group(s group),and double mutants group(d group)were calculated.the min,max,and arithmetic mean(x)of PI in alleged father groups and alleged parent groups were all calculated based on simulated data.Meanwhile,the min,max,and geometric mean(Π)of cumulative parentageindex(CPI)were calculated in the same two groups.Results In this study,All PI formulas of both paternal and maternal mutations in parentage testing were derived.The conclusive analysis of the min,max and mean(x)of PI in group c,group s,and group d led out the following rules:minc>mins>mind,maxc>maxs>maxd,xc>xs>xd.The CPI of all simulation cases met the conditions of excluding kinship.Conclusion The PI formulas in this paper could be applied to parentage testing of both paternal and maternal mutations.

Objective To explore the effect of the physician-nurse-social worker linkage rehabilitation model on the psychological status in patients receiving methadone maintenance treatment(MMT).Methods Ninety-four patients who received MMT were enrolled and randomly divided into experimental group(n = 48)and control group(n = 46).The experimental group received physician-nurse-social worker linkage rehabilitation model intervention,while the control group received conventional methadone treatment service.The anxiety,depression and quality of life of the two groups were evaluated before the intervention,3 months and 6 months after the intervention.Results After 6 months of physician-nurse-social worker linkage rehabilitation mode intervention,the depression status and the anxiety status of the experimental group subjects were significantly improved compared with those before intervention,and both BDI and BAI scores were significantly lower than those of the control group subjects(P＜0.05).Moreover,the proportion of"had depression"and"had anxiety"in the experimental group were significantly lower than those in the control group(P＜0.05).After 6 months of intervention,the QOL-DA score of the experimental group subjects(183.77±8.90)was significantly higher than that of the control group sub-jects(174.76±11.14)(P＜0.01).Conclusion The physician-nurse-social worker linkage rehabilitation model had certain advantages in improving the psychological state of MMT patients,which is worthy of promotion.

Objective:To summarize the clinical and genetic features of children with intellectual developmental disorder with seizures and language delay (IDDSELD) due to 12q24.31 deletion and SETD1B locus variants. Methods:The clinical data of a child with 12q24.31 deletion diagnosed in the Department of Pediatric Neurology of the Third Affiliated Hospital of Zhengzhou University in September 2022 were retrospectively analyzed. Trio-whole exome sequencing (trio-WES) and copy number variations sequencing (CNV-seq) were used for genetic analysis. The relevant literatures were reviewed to summarize the clinical features of the disease.Results:The proband was a 7 years and 9 month old girl who had clinical features of global developmental delay, epilepsy, hyperactivity, hypertonia, gait disorder, special facial features (high eyebrow arch, big ears, upper lip protrusion), funnel chest, lumbar lordosis. Karyotypic analysis showed 46XX in the proband. CNV-seq showed 12q24.31 (chr12: 121895654-122449092) position had a deletion of about 553.44 kb which contained the SETD1B gene. Trio-WES showed deletion of all exons 1-16 of the SETD1B gene. CNV-seq results of her parents were normal: the SETD1B gene was wild-type. This type has not been reported in China. Four children with IDDSELD caused by 12q24.31 deletion (including the SETD1B gene) were retrieved (totally 5 cases including this case), with male to female ratio of 1∶4, all with de novo mutations, and all with mental retardation, cephalo-facial and skeletal malformations. Three cases had seizures, 2 cases still had developmental backwardness after treatment, and 1 case was seizure controlled. Forty-seven cases of IDDSELD due to point mutation in the SETD1B gene were retrieved: male to female ratio was 31∶16, missense mutations (38/47) were predominant, most were de novo mutations (36/47), and a few were inherited from their fathers/mothers (6/47) or of unknown origin (5/47), with clinical manifestations of speech delay (43/47), growth retardation (43/47), intellectual disability (37/41), behavioral problems (37/47), facial malformations (34/47), skeletal malformations (23/47), obesity (16/47), skin abnormalities (11/47), etc. Thirty-nine cases were combined with seizures, 23 of whom were under control after treatment, and 8 cases were recorded as still having developmental backwardness after treatment. Conclusions:IDDSELD patients are rare at home and abroad, with diverse clinical phenotypes and difficult diagnosis. Symptomatic treatment is the main approach. And the patients can leave behind seizures and varying degrees of developmental backwardness. Among them, patients with 12q24.31 deletion are relatively rare and have not been reported in China, and this type is more common in females, all of whom have de novo mutations, and genetic testing is helpful for the early diagnosis of IDDSELD.

Objective:To analyze the expression and clinical significance of serum microRNA (miR)-622 and miR-944 in patients with epithelial ovarian cancer.Methods:Seventy patients with ovarian epithelial cancer admitted in Yuyao People′s Hospital from January 2018 to June 2021 were selected as the study group, and 50 patients with benign ovarian tumors were selected as the control group. The expression of serum miR-622, miR-944 and the expression of tumor tissue protein E cadherin, mitogen-activated protein kinase-1(MAPK1), extracellular regulated protein kinases (ERK) were detected in both groups, and the correlation between miR-622, miR-944 and tumor tissue protein were analyzed. The receiver operating characteristic (ROC) curve was drawn to analyze the efficacy of miR-622 and miR-944 in the diagnosis of ovarian epithelial cancer.Results:The levels of serum miR-622, miR-944 and the expression of E-cadherin, MAPK1 and ERK in the study group were higher than those in the control group: 14.72 ± 1.87 vs. 5.94 ± 1.26, 13.02 ± 1.65 vs. 4.15 ± 0.62, (5.12 ± 0.77) scores vs. (2.37 ± 0.34) scores, (6.47 ± 1.09) scores vs. (2.56 ± 0.45) scores, (5.58 ± 0.86) scores vs. (1.87 ± 0.28) scores, there were statistical differences ( P<0.05). The serum levels of miR-622, miR-924 were positively correlated with the expression of E-cadherin, MAPK1 and ERK ( P<0.05). The area under the curve of miR-622, miR-944 and combined diagnosis of ovarian epithelial cancer were 0.763, 0.797, 0.808, respectively. Conclusions:The serum level of miR-622 and miR-944 were up-regulated in the patients with ovarian epithelial cancer, which was positively correlated with the expression of E-cadherin, MAPK1 and ERK protein in tumor tissues.

[Abstract] Objective: To investigate the molecular mechanism of miR-143-3p regulating the proliferation, migration and invasion of colon cancer RKO cells via targeting enhancer of zeste homolog 2 (EZH2). Methods: A total of 40 pairs of colon cancer tissues and corresponding para-cancerous tissues resected in the First Affiliated Hospital of Kunming Medical University from March 2015 to July 2017 were collected for this study. In addition, colon cancer cell lines (COLO320, RKO and CL-11) and normal intestinal mucosa NCM460 cells were also collected. qPCR was applied to detect the expression level of miR-143-3p in colon cancer tissues and cell lines. miR-143-3p mimics, miR-143-3p inhibitor, EZH2 siRNA and negative control plasmids were transfected into RKO cells, respectively. The effect of miR-143-3p/EZH2 axis on the proliferation, migration and invasion of RKO cells were detected by CCK-8 and Transwell assay, respectively. Western blotting was used to detect the expression level of EZH2 protein in RKO cells. The targeting relationship between miR-143-3p and EZH2 was verified by Dual luciferase reporter gene assay. Results: The expression level of miR-143-3p was downregulated in colon cancer tissues and cell lines (all P<0.01). Overexpression of miR-143-3p significantly inhibited the proliferation, migration and invasion of RKO cells (all P<0.01). Dual luciferase reporter gene assay confirmed that EZH2 was a target gene of miR-143-3p. Simultaneous knockdown of miR-143-3p and EZH2 attenuated the inhibition of EZH2 knockdown on the proliferation, migration and invasion of RKO cells. Conclusion: miR-143-3p suppresses the proliferation, migration and invasion of colon cancer cells via targetedly down-regulating EZH2.

Objective:To evaluate the effect of stellate ganglion block on nighttime sleep quality in the patients with primary sleep disorders.Methods:Sixty patients of both sexes with primary sleep disorders, of American Society of Anesthesiology physical status Ⅰ or Ⅱ, aged 18-64 yr, weighing 40-75 kg, were randomized to 2 groups ( n=30 each): control group (group C) and stellate ganglion block group (group S). In group S, 0.2% ropivacaine 5 ml was injected into the surface of the right longus colli muscle where the the stellate ganglion was located under ultrasound guidance once a day for 7 consecutive days starting from 1 h before bedtime.While the equal volume of normal saline was given instead in group C. Patients′ Subjective Sleep Quality was assessed using the Pittsburgh Sleep Quality Index Questionnaire before treatment (T 0) and 1-7 days after treatment.The objective sleep quality was evaluated with polysomnography.A bispectral index(BIS)monitor and a cerebral and regional blood oxygen monitoring system were used to monitor the BIS value and regional cerebral oxygen saturation (rSO 2) during sleep, which were recorded once every 30 min, and the 7-day average was calculated.The patients′ daytime advanced cognitive function was assessed for 3 consecutive days after the end of treatment (T 8-10), including the Continuous Attention Test and the Behavioral Test for Performing Defect Syndrome, and the 3-day average value was calculated.Venous blood samples were collected at T 0 and T 8 to measure the plasma noradrenaline, cortisol, and serotonin concentrations by high-performance liquid chromatography. Results:Compared with group C, the individual and total scores of Pittsburgh Sleep Quality Index were significantly decreased, the sleep latency, awakening time and fast wave sleep latency were shortened, the number of awakening was increased, the total sleep time was prolonged, the sleep efficiency and proportion of fast wave sleep were increased, S 1-S 2 ratio in slow-wave sleep was decreased, S 3-S 4 ratio was increased, BIS value was decreased, rSO 2 was increased, each parameter of Continuous Attention Test was decreased and each parameter of Behavioral Test for Performing Defect Syndrome was increased after treatment, and plasma noradrenaline level was decreased at T 8 in group S ( P<0.05). Conclusion:Stellate ganglion block can improve nighttime sleep quality in patients with primary sleep disorders.

Objective:Breast cancer is a kind of malignant tumor which seriously endangers women′s health. With the development of molecular biology technology and the further understanding of pathogenesis, the treatment of breast cancer has entered a new era of molecular targeted therapy, and has been making new progress. At present, molecular targeted drugs for the treatment of breast cancer keep emerging, mainly including endocrine therapy targeting estrogen and progesterone receptor (ER/PR), targeted drugs treatment for epidermal growth factor receptor-2 (HER-2); phosphatidylinositol 3 kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway inhibitors, anti-angiogenic drugs, poly (ADP-ribose) polymerase (PARP) inhibitors for BRCA1/2 mutations, cyclin-dependent kinases (CDK) 4/6 inhibitors, etc. Because some signal pathway abnormalities may occur in different molecular types of breast cancer, the same targeted drugs are cross-used in different types.

Objective:Breast cancer is a kind of malignant tumor which seriously endangers women′s health. With the development of molecular biology technology and the further understanding of pathogenesis, the treatment of breast cancer has entered a new era of molecular targeted therapy, and has been making new progress. At present, molecular targeted drugs for the treatment of breast cancer keep emerging, mainly including endocrine therapy targeting estrogen and progesterone receptor (ER/PR), targeted drugs treatment for epidermal growth factor receptor-2 (HER-2); phosphatidylinositol 3 kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway inhibitors, anti-angiogenic drugs, poly (ADP-ribose) polymerase (PARP) inhibitors for BRCA1/2 mutations, cyclin-dependent kinases (CDK) 4/6 inhibitors, etc. Because some signal pathway abnormalities may occur in different molecular types of breast cancer, the same targeted drugs are cross-used in different types.

Objective To investigate job satisfaction and influencing factors of medical staff in China.Methods From December 2017 to January 2018, based on the third round third-party evaluation of the Healthcare Improvement Initiative, data on job satisfaction of medical staff at 136 tertiary public hospitals in 31 provinces of China were collected.Chi-square test and binary multivariate logistic regression were used to analyze the influencing factors of job satisfaction.Results The job satisfaction of medical staff at 136 sample hospitals was relatively low. 34.6% of the doctors were satisfied with their job, while the corresponding rate in the nurses was 48.7%. Multi-factor analysis showed that income level, workload, doctor-patient relationship, hospital′s compensation policy, and promotion policy were all significant factors influencing medical staff′s job satisfaction ( workload OR <1, remaining variables OR >1, P <0.05 ). Conclusions Improvement of the medical staff′s job satisfaction depends on optimizing their income distribution policy, increasing their income, improving the promotion policy of professional titles, reducing their workload rationally and building a harmonious relationship between doctors and patients.

Objective: To investigate the key issues in the diagnosis and treatment of foreign body aspiration in children with tracheobronchial variations. Methods: A retrospective study was performed for 11 pediatric patients who were treated in Department of Otorhinolaryngology and Head and Neck Surgery, Henan Province People′s Hospital after a diagnosis of foreign body aspiration with tracheobronchial variations between January 2015 and December 2017. There were 7 males and 4 females among the 11 cases of foreign body aspiration with tracheobronchial variations, ranging between 9 months and 11 years of age. Results: Among 11 cases, the types of variationswere tracheal bronchus in 9 cases, bridging bronchus in 1 case and simple tracheal stenosis in 1 case. All of the pediatric patients were under general anesthesia, and the foreign bodies were removed by bronchoscopy successfully with no significant complications. Conclusions The possibility of tracheobronchial variations should be considered in children with recurrent wheezing and poor efficacy of regular treatment before foreign body aspiration. Removal of foreign body via rigid bronchoscope under general anesthesia is a safe and effective treatment. These children are needed to combine the situation oftracheobronchial variations and the location of foreign bodies to guide the operation, and strengthened the perioperative treatment.