Objective To identify the pathogenic gene and variant for a family with branchio-otic syndrome.Methods The clinical data of this family were collected,and the peripheral blood was extracted for deafness gene NGS panel analysis.Pathogenic variation detected was verified by Sanger sequencing.Results The family contained 17 members in three-generations,3 of whom exhibited autosomal dominant,hearing loss,preauricular fistula and branchial cleft fistula,which were in accordance with the clinical diagnosis criteria of branchio-otic syndrome.A no-vel heterozygous variant c.963dupT(p.E322X)in EYA1 gene was identified,which co-segregated with the branchi-o-otic syndrome phenotype in the family.The variant was a nonsense variant resulting in the premature appearance of the stop codon.According to the American College of Medical Genetics and Genomics(ACMG)guidelines and the criteria,the variant was classified as pathogenic.Conclusion We identified a novel pathogenic variant EYA1:c.963dupT(p.E322X)in a family with branchio-otic syndrome.

Objective To identify the pathogenic gene and variant for a family with branchio-otic syndrome.Methods The clinical data of this family were collected,and the peripheral blood was extracted for deafness gene NGS panel analysis.Pathogenic variation detected was verified by Sanger sequencing.Results The family contained 17 members in three-generations,3 of whom exhibited autosomal dominant,hearing loss,preauricular fistula and branchial cleft fistula,which were in accordance with the clinical diagnosis criteria of branchio-otic syndrome.A no-vel heterozygous variant c.963dupT(p.E322X)in EYA1 gene was identified,which co-segregated with the branchi-o-otic syndrome phenotype in the family.The variant was a nonsense variant resulting in the premature appearance of the stop codon.According to the American College of Medical Genetics and Genomics(ACMG)guidelines and the criteria,the variant was classified as pathogenic.Conclusion We identified a novel pathogenic variant EYA1:c.963dupT(p.E322X)in a family with branchio-otic syndrome.

Background:alpha-fetoprotein-producing gastric cancer(AFPGC)is relatively rare and special type of gastric cancer,and its clinical symptoms are lack specificity.Aims:To summarize the clinical characteristics and prognosis of AFPGC.Methods:The data of patients with AFPGC from July 2017 to June 2023 at Shaanxi Provincial People's Hospital were retrospectively analyzed,including clinical manifestations,laboratory and examination results,endoscopic results,pathology and treatment.Results:In 17 patients with AFPGC,14 were male and 3 were female.The clinical manifestations were mainly abdominal pain,hematochezia,upper abdominal discomfort,fatigue,etc.AFP was 200-2000 ng/mL.The laboratory examination tests showed that anemia in 16 patients,elevated CEA in 1 patient,abnormal liver function in 2 patients,Hepatitis B Virus-positive in 1 patient,CT showed liver metastasis in 11 patients,lymph node metastasis in 12 patients,cirrhosis in 1 patient.Conclusions:For patients with gastric cancer indicated by examination,if AFP is elevated,AFPGC should be considered.Early detection and surgical treatment can improve the prognosis of AFPGC.

Background:alpha-fetoprotein-producing gastric cancer(AFPGC)is relatively rare and special type of gastric cancer,and its clinical symptoms are lack specificity.Aims:To summarize the clinical characteristics and prognosis of AFPGC.Methods:The data of patients with AFPGC from July 2017 to June 2023 at Shaanxi Provincial People's Hospital were retrospectively analyzed,including clinical manifestations,laboratory and examination results,endoscopic results,pathology and treatment.Results:In 17 patients with AFPGC,14 were male and 3 were female.The clinical manifestations were mainly abdominal pain,hematochezia,upper abdominal discomfort,fatigue,etc.AFP was 200-2000 ng/mL.The laboratory examination tests showed that anemia in 16 patients,elevated CEA in 1 patient,abnormal liver function in 2 patients,Hepatitis B Virus-positive in 1 patient,CT showed liver metastasis in 11 patients,lymph node metastasis in 12 patients,cirrhosis in 1 patient.Conclusions:For patients with gastric cancer indicated by examination,if AFP is elevated,AFPGC should be considered.Early detection and surgical treatment can improve the prognosis of AFPGC.

Objective:To observe and analyze the intervention effect of logotherapy on anxiety and depression in patients with chronic glomerulonephritis (CGN).Methods:Selected 102 CGN patients from March 2019 to May 2020 in Beijing Tiantan Hospital Affiliated to Capital Medical University as the research objects, the general information of the patients was collected, and the patients were randomly divided into the observation group and the control group with 51 cases in each group. The control group was given routine nursing intervention for CGN patients, and the observation group was given logotherapy therapy intervention based on the intervention of the control group. The differences in the scores of the Self-rating Anxiety Scale (SAS) and Self-rating Depression Scale (SDS) between the two groups before and after 3 months of intervention.Results:There were no significant differences in SAS and SDS scores before and after intervention in the control group ( P>0.05). The SAS and SDS scores in the observation group after 3 months of intervention were (40.67 ± 4.17), (48.74 ± 5.01) points, which were significantly lower than (51.34 ± 5.04), (55.19 ± 5.49) points in the control group ( t=8.37, 3.32, both P<0.01). Conclusions:The positive psychological intervention of patients with logotherapy can effectively improve the anxiety and depression of patients with CGN.

Objective: To analyze the situation of AIDS knowledge and discrimination among freshmen in Chengdu city, and to explore possible effects of AIDS knowledge on discrimination. Methods: A cluster random sampling was employed to investigate 1 053 college students from 11 universities in Chengdu about their HIV/AIDS knowledge and discrimination. The scores of AIDS knowledge and discrimination of students with different characteristics were analyzed, and the influence path of AIDS knowledge on AIDS discrimination were further analyzed based on different peer relationships. Results: The total scores of AIDS knowledge was negatively correlated to AIDS discrimination( r s =-0.13, P <0.01). After adjusting for confounding factors, the total score of AIDS knowledge was associated with the total score of AIDS discrimination( β =-0.12, P <0.01). AIDS knowledge played a role in AIDS discrimination in intimate, general and unfamiliar peer relationships, with standardized path coefficients of -0.20, -0.24 and -0.18 respectively( P <0.01). Conclusion AIDS knowledge are correlated with discrimination among freshmen under different peer relationships. More anti-AIDS discrimination courses should be added to AIDS education to reduce the students’ fear and stigma of HIV/AIDS patients and related risk groups.

Objective To study the clinical characteristics of outpatients with hand,foot and mouth disease (HFMD) caused by different serotypes of enteroviruses.Methods This was a prospective study.From February 2017 to March 2018,563 outpatients with HFMD were enrolled by systematic sampling in the Department of Infectious Diseases,Henan Children's Hospital.Throat swabs were collected to determine the serotypes via PCR.Demographic,clinical,and laboratory data were collected by standard questionnaire.All cases were followed up twice at 2 and 9 weeks after the initial outpatient visit through telephone interview.A total of 563 cases were enrolled and 555 (98.6％) cases were positive for human enteroviruses,including 338 (60.9％) males.Analyses were stratified by enterovirus serotypes,Chi square test or Fisher's exact test,Rank sum test was used for comparison among different groups.Results The age of 555 cases was 24.2 (16.4,41.3) months.Among them 44.0％ (224 cases) were identified as coxsackievirus (CV)-A6,while 189 cases,35 cases,14 cases and 73 cases were identified as CV-A16,enterovirus (EV)-A71,CV-A10 and other serotypes,respectively.Fever (≥37.5 ℃C) was present in 51.4％(285/555) of laboratory confirmed cases.The proportions of fever in cases of CV-A6 (68.9％(168/244)) and CV-A10 (12/14) were significantly higher than those in cases of CV-A16 (31.7％(60/189),x2=57.344,14.313,both P=0.000),other serotypes (43.8％(32/73),x2=15.101 and 8.242,P=0.000 and 0.004) and EV-A71 (37.1％(13/35),x2=13.506 and 9.441,P=0.000 and 0.002) respectively.There was no significant difference between CV-A6 and CV-A10 in presentation of fever (x2=1.785,P=0.182).There were 359 cases (64.7％) with eruptions in mouth,hands,feet and buttocks.Cases infected with EV-A71 had the highest proportions (74.3％(26/35)) of rash emerging simultaneously in mouth,hands,feet,and buttocks.The proportion in cases of CV-A 16,CV-A6,CVA 10 and other serotype were 73.5％ (139/189),61.9％ (151/244),7/14 and 49.3％ (36/73),respectively.The proportion of rash on other parts of body,such as face,limbs or torso in cases infected with CV-A6 (16.8％ (41/244)) was the higherest and the proportion in cases of CV-A16,EV-A71,CV-A10 or other serotypes were 8.5％(16/189),5.7％(2/35),1/14,6.8％(5/73),respectively.None of these cases developed serious complications.Desquamation occurred in 45.5％ (179/393) cases 7.5 (5.0,9.0) days after disease onset and 13.5％ (53/393) cases showed onychomadesis 31.0 (18.0,33.5) days after disease onset.The proportion of desquamation and onychomadesis associated with CV-A6 (64.2％ (95/148) and 31.8％ (47/148)) was significantly higher than CV-A16 (31.8％ (49/154) and 1.3％ (2/154),x2=33.601 and 52.482,both P=0.000) and other serotypes (38.0％(19/50) and 6.0％(3/50),x2=10.236 and 12.988,P=0.001 and 0.000).Desquamation appeared more in cases of CV-A6 than in cases of CV-A10 (2/11,x2=9.386,P=0.002),with the proportion of onychomadesis higher in CV-A6 than in EV-A71 (3.3％ (1/30),x2=11.088,P=0.001).Conclusion Clinical manifestation such as fever,rash emerging parts,desquamation and onychomadesis are different among outpatient HFMD cases infected with CV-A16,CV-A6,EV-A71,CV-A10 and other enteroviruses.

Objective: To investigate the effect of hypertensive disorder complicating pregnancy (HDCP) on the mortality and early complications of premature infants. Methods: The general clinical data of preterm infants with gestational age 24-36^{+ 6} weeks were collected from the cooperative units in the task group from January 1, 2013 to December 31, 2014.According to the severity of HDCP, the infants were divided into 4 groups: HDCP group, preeclampsia group, eclampsia group and non HDCP group, the mortality and major complications of preterm infants were compared, and the influencing factors were analyzed. Results: The mortality rate of preterm in the HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=9.970, P=0.019). Eclampsia had a highest fatality rate (4.8%) in the early stage, compared with non HDCP group (2.2%), and the difference was statistically significant.Comparison of HDCP group (1.8%) and eclampsia group (3.2%) suggested that there was no statistically significant difference.The incidence of respiratory distress syndrome (RDS) in preterm in HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=13.241, P=0.004). Eclampsia group showed the highest incidence (35.4%), compared with non HDCP group (16.2%), the difference was statistically significant, but compared with HDCP group (19.9%), preeclampsia group (17.1%), there was no significant diffe-rence.The incidence of bronchopulmonary dysplasia (BPD) in preterm in HDCP group was significantly higher than that of non HDCP group (χ²=9.592, P=0.022), the highest incidence showed up in eclampsia group (9.7%), compared with non HDCP group (2.0%) and HDCP group (1.7%), the difference was statistically significant.But there was no statistically significant difference, compared with preeclampsia group.As the degree of HDCP aggravated, the incidence of BPD gradually rose.There was no significant impact on necrotizing enterocolitis (NEC), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH) and sepsis of HDCP (χ²=7.054, 7.214, 0.358, 3.852; P=0.070, 0.065, 0.949, 0.278). Considering the overall outcome of the child, that was, whether the child died or survived, he had at least one complication, and HDCP had an effect on it (χ²=15.697, P=0.001), so the incidence increased while the degree of HDCP rose gradually.After adjusting gestational age, birth weight, sex, way of delivery, placental abruption and front placenta, prenatal hormonal, gestational diabetes, neonatal asphyxia and other factors, the results displayed that HDCP was the factor leading to the death of premature baby (OR=2.159, 95%CI: 1.093-4.266), and comparison between preeclampsia and eclampsia showed no statistical difference (P=0.714, 0.389); HDCP had no significant influence on RDS, BDP, ICH, NEC, ROP and sepsis. Conclusions HDCP leads to increased risk of premature death, but also leads to the increased incidence of RDS and BPD, but it had no obvious effect on NEC, ROP, IVH, sepsis and other complications.

ObjectiveTo explore the effect of patients with acute cerebral infarction (ACI) at different ages receiving intravenous injection of alteplase for thrombolysis on their prognosis.Methods Ninety-eight ACI patients admitted to Jinghai Hospital of Tianjin from January 2014 to December 2015 were conducted in this study, and they were divided into elderly group (over 75 years old) and younger age group (under 50 years old). The patients in two groups of were given intravenous thrombolytic therapy with alteplase (0.9 mg/kg), 10% of the dose was intravenously injected, and continuously the remaining dose was pumped into the vein for 1 hour. Before the thrombolysis and 1 day and 21 days after thrombolysis, the score of United States National Institutes of Health Stroke Scale (NIHSS) was used to evaluate neurological deficits, the incidence of bleeding adverse event and mortality were recorded.Results Compared to the before thrombolysis, the NIHSS scores after thrombolysis on the 1st day and 21st day were significantly decreased in the two groups (the younger age group 1 day: 6±4 vs. 10±5, 21 days 2±2 vs. 10±5, the elderly group 1 day: 7±5 vs. 10±7, 21 days: 6±4 vs. 10±7, allP < 0.05), and NIHSS score in the younger age group was significantly lower than that in the elderly group on the 21st day after thrombolysis (2±2 vs. 6±4,P < 0.05). After thrombolysis, the incidence of minor mucocutaneous bleeding in elderly group was obviously higher than that in younger age group, the difference being statistically significant [7.69% (4/52) vs. 2.17% (1/46),P < 0.05]; the elderly group had higher symptomatic intracerebral hemorrhage and death events than those in younger age group [1 (1.92%) vs. 0].Conclusion Different ages of patients with ACI can benefit from intravenous thrombolysis with alteplase, showing the younger the age of the patients, the better the benefit they can get and have relatively better prognosis.

Objective The patients with non-syndromic deafness in Shanxi Province were retrospectively an_alyzed for the common deafness gene mutations and frequency of mutations carrying rate ,to understand the molecu_lar pathogenesis of deafness in Shanxi area .Methods Genomic DNAs of 800 patients of non -syndromic deafness within Shanxi were obtained from peripheral blood .Genes GJB2 ,GJB3 ,SLC26A4 and mitochondrial 12SrRNA 1494 and 1555 loci were sequenced after polymerase chain reaction (PCR) amplification and compared with the NCBI website for the analysis of the formation of mutations .ResuIts Among 800 patients ,353 cases (44 .13% ) showed detected deafness related mutations and the genetic etiology was found for 294 patients (36 .75% ) .Among them , 153 cases (19 .13% ) carried double allele mutations in the GJB2 gene .The most frequent mutation of GJB2 gene was 235delC ,and the carrying rate was 13 .5% (216/1 600) .The double mutant allele of SLC26A4 gene was detec_ted in 123 cases (15 .38% ) ,and the most common mutation was IVS7-2A>G ,identified in 7 .44% (119/1 600) of patients .Homogenic mitochondrial 12S rRNA 1494C> T mutation in one patient and 1555A> G mutation in 15 patients were detected .GJB3 gene c .538C > T heterozygous mutation was found in two patients .Altogether , 36 .75% (294/800) of patients with deafness were caused by gene mutations .ConcIusionThe data containing GJB2 gene and SLC26A4 gene carrying rate are consistent with the published data of non-syndromic deafness in the Northwest region of China ,but the carrying rate of mitochondrial gene mutations is lower than the average level of China .Our data show that the gene mutations contribute to 36 .75% of etiology in patients with deafness .This study reflects the importance of deafness related genes screening in Shanxi area for early diagnosis and genetic con_sultation .