This article reported a case of autosomal dominant intellectual developmental disorder type 22 caused by a heterozygous mutation in the ZBTB18 gene. At 24 +4 weeks of gestation, prenatal ultrasound indicated a short outer diameter of the fetal corpus callosum and bilateral ventricular dilatation. Whole-genome copy number variation analysis of the fetus showed no abnormalities. Whole exome sequencing (WES) and Sanger sequencing validation of the family revealed the fetus carried a c.1374_1383del(p.S459*) heterozygous mutation in the ZBTB18 gene (NM_205768.3), which was neither phenotypically present nor genotypically detected in the parents, suggesting a de novo mutation. Based on the clinical manifestations, the fetus was diagnosed with autosomal dominant intellectual developmental disorder type 22. After genetic counseling, the pregnant woman opted for termination of the pregnancy. This case highlights the correlation between prenatal ultrasonic detection of callosal dysgenesis and lateral ventricular enlargement and intellectual developmental disorders caused by gene mutations. Furthermore, it expands the mutation spectrum of the ZBTB18 gene, thereby facilitating prenatal diagnosis and genetic counseling.

Objective To explore the feasibility of video-assisted thoracoscopic surgery(VATS)in the treatment of congenital pulmonary airway malformation(CPAM)or pulmonary isolation complicated with ipsilateral mediastinal bronchogenic cyst in children.Methods From July 2019 to July 2024,VATS was carried out to treat CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cyst in 7 children.A three-hole thoracoscopic surgery via lateral thoracic approach was performed.The patients were placed in a healthy lateral position.The observation hole was located at the intersection of the subscapular line and the 5th intercostal space,and the operating hole was established according to the surgical requirements in combination with the lumboscopic diamond rule.A 5 mm trocar was used for all three holes.The pressure of CO2 pneumothorax was 4 mm Hg and the flow rate was 2 L/min,which was adjusted at any time according to the intraoperative conditions of the children.The operation was mainly designed for lung operation.The pulmonary operation was conducted firstly,and then the bronchogenic cyst was treated.If necessary,block resection was applied to avoid serious complications of trachea.Results All the operations were performed under thoracoscopy without conversion to open surgery.The operation time was 37-191 min(median,101 min).The intraoperative bleeding volume was 1-15 ml(median,5 ml).One case was not given a closed chest drainage tube placed,and the other 6 cases were placed a closed chest drainage for 1-5 d(median,3d).Postoperative pathology showed 5 cases of CPAM combined with bronchogenic cysts,including 4 cases of type 2(bronchiole type)and 1 case of type 3(bronchiole/alveolar type),and 2 cases of extralobular pulmonary isolation combined with bronchogenic cysts.All the 7 cases were followed up for 6-57 months(median,27 months),and chest CT showed no recurrence of lesions.Conclusions CPAM or pulmonary isolation may be accompanied by bronchogenic cysts.Preoperative imaging examination should correspond to surgical observation,and careful exploration should be conducted to avoid missed diagnosis.VATS is safe and feasible for treating CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cysts.

This article reported a case of autosomal dominant intellectual developmental disorder type 22 caused by a heterozygous mutation in the ZBTB18 gene. At 24 +4 weeks of gestation, prenatal ultrasound indicated a short outer diameter of the fetal corpus callosum and bilateral ventricular dilatation. Whole-genome copy number variation analysis of the fetus showed no abnormalities. Whole exome sequencing (WES) and Sanger sequencing validation of the family revealed the fetus carried a c.1374_1383del(p.S459*) heterozygous mutation in the ZBTB18 gene (NM_205768.3), which was neither phenotypically present nor genotypically detected in the parents, suggesting a de novo mutation. Based on the clinical manifestations, the fetus was diagnosed with autosomal dominant intellectual developmental disorder type 22. After genetic counseling, the pregnant woman opted for termination of the pregnancy. This case highlights the correlation between prenatal ultrasonic detection of callosal dysgenesis and lateral ventricular enlargement and intellectual developmental disorders caused by gene mutations. Furthermore, it expands the mutation spectrum of the ZBTB18 gene, thereby facilitating prenatal diagnosis and genetic counseling.

Objective To explore the feasibility of video-assisted thoracoscopic surgery(VATS)in the treatment of congenital pulmonary airway malformation(CPAM)or pulmonary isolation complicated with ipsilateral mediastinal bronchogenic cyst in children.Methods From July 2019 to July 2024,VATS was carried out to treat CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cyst in 7 children.A three-hole thoracoscopic surgery via lateral thoracic approach was performed.The patients were placed in a healthy lateral position.The observation hole was located at the intersection of the subscapular line and the 5th intercostal space,and the operating hole was established according to the surgical requirements in combination with the lumboscopic diamond rule.A 5 mm trocar was used for all three holes.The pressure of CO2 pneumothorax was 4 mm Hg and the flow rate was 2 L/min,which was adjusted at any time according to the intraoperative conditions of the children.The operation was mainly designed for lung operation.The pulmonary operation was conducted firstly,and then the bronchogenic cyst was treated.If necessary,block resection was applied to avoid serious complications of trachea.Results All the operations were performed under thoracoscopy without conversion to open surgery.The operation time was 37-191 min(median,101 min).The intraoperative bleeding volume was 1-15 ml(median,5 ml).One case was not given a closed chest drainage tube placed,and the other 6 cases were placed a closed chest drainage for 1-5 d(median,3d).Postoperative pathology showed 5 cases of CPAM combined with bronchogenic cysts,including 4 cases of type 2(bronchiole type)and 1 case of type 3(bronchiole/alveolar type),and 2 cases of extralobular pulmonary isolation combined with bronchogenic cysts.All the 7 cases were followed up for 6-57 months(median,27 months),and chest CT showed no recurrence of lesions.Conclusions CPAM or pulmonary isolation may be accompanied by bronchogenic cysts.Preoperative imaging examination should correspond to surgical observation,and careful exploration should be conducted to avoid missed diagnosis.VATS is safe and feasible for treating CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cysts.

Objective:To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome.Methods:Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed.Results:The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. Conclusion:Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.

【Objective】 To study how blood donation intention among college students was influenced by publicity information (framework effect), individual characteristic (altruistic personality) and micro-system of the social ecological systems(organization trust) through the viewpoints of social psychology, sociology and behavioral economics, aiming at providing new strategies for donors recruitment in colleges. 【Methods】 A total of 1 225 questionnaires were distributed to four universities in Xiamen and Quanzhou, Fujian Province from June 2021 to December 2021, with blood donation publicity information included, to investigate the blood donation intention, altruistic personality, organization trust and demographic characteristics. 【Results】 A total of 99.18%(1 215/1 225)of the collected questionnaires were valid.The average score of blood donation intention was (76.40 ± 24.31) (the range of value was 0-100). Multiple linear regression showed that altruistic personality and organization trust were positively associated with donation intention (P<0.05). Altruistic personality and organization trust had a significant interaction; with the increase of organization trust, the correlation between altruistic personality and donation intention would decrease (P<0.05). In addition, the publicity information had significant frame effect on blood donation intention when other variables in the regression model were controlled (P<0.05). Compared to the negative framework, the positive framework can promote the donation intention better. 【Conclusion】 When recruiting potential blood donors among college students, positive image of blood centers is conductive to promote organization trust therefore promote donation intention.The effective use of framework effect to boost blood donation intention might improve the efficiency of donor recruitment to a certain extent.

Antibodies, Neutralizing/immunology* ; Antibodies, Viral/immunology* ; COVID-19/virology* ; COVID-19 Vaccines/immunology* ; Humans ; SARS-CoV-2/pathogenicity* ; Spike Glycoprotein, Coronavirus/immunology* ; Vaccines, Inactivated/immunology*

Objective To evaluate the effect of acupuncture for the stroke patients with tinnitus, hearing loss by using the twirling reinforcing method. Methods A total of 92 tinnitus, hearing loss patients with stroke were included and divided into the observation group and control group by random number table method, 47 in the observation group and 45 in the control group. Patients in both groups were needled at Tinggong, Tinghui, Yifeng in the affected side, and Zhongzhu, Waiguan, Sanyinjiao, Taichong and Taixi in both sides. Patients in the observation group were needled at Taixi and Sanyinjiao using the twirling reinforcing method, but those in the control group needled at Taixi and Sanyinjiao using the needle retention method. Patients in both groups were also treated with semiconductor laser therapy and ultrashort wave therapy. All patients were treated for 20 days. The Tinnitus Severity Scale and the clinical effect were evaluated. Results After the treatment, the Tinnitus Severity Scale scores in the observation group were significantly lower than that in the control group (5.04 ± 3.24 vs. 5.67 ± 3.55; t=-0.880, P>0.05). The improvement rate in tinnitus in the observation group was significantly higher than that in the control group (38.3%vs.17.8%;χ2=17.391, P=0.000). The improvement rate in hearing loss showed no significant difference between two groups (38.3%vs. 31.1%;χ2=8.522, P=0.004). Conclusions Acupuncture using the twirling reinforcing method may relieve tinnitus of the stroke patients with tinnitus, hearing loss.

Aim To explore the effect of miRNA-143 ( miR-1 4 3 ) on homocysteine ( Hcy ) induced-vascular smooth muscle cells ( VSMCs ) proliferation and the mechanism .Methods VSMCs were cultured and in-cubated with Hcy by using primary cultured method . Then, cells were treated with different concentrations of Hcy and folate .VSMCs proliferation was determined with MTT assay , miR-143 was measured by qRT-PCR, and methylation of miR-143 was determined with meth-ylated PCR.Results After cells were treated with dif-ferent concentrations of Hcy , the proliferation of VSMCs was significantly increased , mRNA expression of miR-143 was decreased and methylation of miR-143 was increased .The proliferation of VSMCs was signifi-cantly decreased when transfected VSMCs with miR-143 precursor , and cell proliferation was increased by using miR-143 inhibitor transfection .Conclusion Hy-pomethylation of miR-143 may inhibit VSMCs prolifera-tion.

Objective To evaluate the efficacy of acupuncture for tinnitus, hearing loss in patients with type 2 diabetes using the twirling, reinforcing-reducing method. Methods A total of 132 tinnitus, hearing loss patients with type 2 diabetes were included and divided into an observation group and a control group by random number table method, 66 in each group. Patients in both groups were acupunctured at Tinggong, Tinghui, Yifeng in the affected side, and Zhongzhu, Waiguan, Sanyinjiao, Taichong and Taixi in the both sides. Patients in the observation group were acupunctured at Taichong using the twirling reducing method, Taixi using the twirling reinforcing method, and those in the control group both of Taichong and Taixi using the needle retention method. Patients in both groups were also treated with semiconductor laser therapy and ultrashort wave therapy. All patients were treated for 1 month. The severity of tinnitus was assessed by the Tinnitus Severity Scale, and the clinical efficacy was evaluated. Results After the treatment, the Tinnitus Severity Scale score in the observation group was significantly lower than that in the control group (5.71 ± 2.19 vs. 7.14 ± 3.36;t=2.897, P<0.01). The significant improvement rate in tinnitus in the observation group was significantly higher than that in the control group (77.3%vs. 63.6%;χ2=22.091, P<0.01). The significant improvement rate in hearing loss in the observation group was no significant difference than that in the control group (72.4% vs. 63.8%; χ2=0.992, P=0.319). Conclusion Acupuncture using the twirling, reinforcing-reducing method may relieve tinnitus in tinnitus, hearing loss patients with type 2 diabetes.