Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.

Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.

Objective:To investigate the status of hepatitis E virus infection in unpaid blood donors in Wenzhou.Methods:A total of 5 241 blood samples were selected from donors who successfully donated blood between October 2022 and March 2023. These samples were tested for hepatitis E virus (HEV) through HEV-IgG antibodies, HEV-IgM antibodies, and nucleic acid tests (HEV RNA). Samples that tested positive for HEV RNA underwent quantitative detection and sequencing. Data regarding the blood donors were collected, the positive rates of each test result were recorded, and the HEV infection status among different populations was analyzed.Results:The positive rate of the HEV-IgG antibody test was 23.60% (1 237/5 241), while the positive rate of the HEV-IgM antibody test was 0.29% (15/5 241). The positive rate of the HEV RNA test was 0.08% (4/5 241). The positive rate of the HEV-IgG test increased with age ( χ2 = 379.493, P < 0.05), and males had a higher positive rate than females ( χ2 = 5.12, P < 0.05). Both the positive rates of HEV-IgG and HEV-IgM tests increased as the number of blood donations increased ( χ2 = 40.87, 8.30, both P < 0.05). Furthermore, the positive rates were significantly higher in 2023 than in 2022 ( χ2 = 51.03, 13.35, both P < 0.05), and they were also significantly higher in spring than in winter ( χ2 = 51.03, 13.35, both P < 0.05). Only one HEV RNA-positive blood donor tested positive for both HEV-IgG and HEV-IgM antibodies, while the remaining three donors tested negative. Only one case was genotyped, and it belonged to genotype Ⅳ. Conclusion:The incidence of HEV infection among unpaid blood donors in Wenzhou of Zhejiang Province is relatively high, with the prevalent HEV genotype being type Ⅳ. Characteristics such as sex, age, and the number of blood donations can be utilized as auxiliary screening reference indicators.

Objective:To investigate the anatomic mechanism and risk factors of intracranial embolism caused by injection at temporal region.Methods:(1) Latex perfusion was performed on the vessels of 8 cranial specimens. The vessels from the superficial temporal artery to the carotid artery were dissected to measure the length, the diameter of starting point and ending point and the volume of vessels (drainage method). (2) Cranial CT angiography of 20 patients (excluding patients with cervical diseases) were obtained from the database of Zhejiang Provincial People’s Hospital from January 2021 to December 2022. The length, the diameter of starting point and ending point, and the volume of vessels were measured. (3) 5 plastic surgeons used pressure simulation measuring equipment to vigorously press the temporal region of the real skull model according to the clinical practice and maintain 2 s to obtain the maximum pressure value. The additional pressure on the temporal region was obtained by subtracting the common carotid artery base pressure [set at 90, 120, 150 and 200 mmHg (1 mmHg = 0.133 kPa)] from the maximum pressure.Results:(1) 8 arteries were collected from 4 skull specimens. The length of vessels was (169.5±7.2) mm, the diameter of the starting point of vessel was (4.29±0.28) mm, the diameter of the ending point of vessel was (1.31±0.15) mm, and the volume was (1.56±0.21) ml. (2) There were 11 males and 9 females among 20 patients aged 23-53 years. The length of vessels was (172.2±7.6) mm, the diameter of the starting point of vessel was (5.63±0.43) mm, the diameter of the ending point of vessel was (1.77±0.16) mm, and the volume was (1.59±0.23) ml. (3) The mean value of additional pressure generated by local pressure on the temporal region by 5 physicians was (127.2±10.1) mmHg (113.8-138.6 mmHg).Conclusion:When the injection volume into the superficial temporal artery was more than 1.6 ml, the artery was damaged, and the temporal area was pressed strongly (the local pressure was more than 110 mmHg above the basic pressure), the injection material might flow into the intracranial from the junction of the common carotid artery and into the internal carotid artery, which was the possible mechanism of the temporal filling leading to intracranial embolism.

Objective:To investigate the anatomic mechanism and risk factors of intracranial embolism caused by injection at temporal region.Methods:(1) Latex perfusion was performed on the vessels of 8 cranial specimens. The vessels from the superficial temporal artery to the carotid artery were dissected to measure the length, the diameter of starting point and ending point and the volume of vessels (drainage method). (2) Cranial CT angiography of 20 patients (excluding patients with cervical diseases) were obtained from the database of Zhejiang Provincial People’s Hospital from January 2021 to December 2022. The length, the diameter of starting point and ending point, and the volume of vessels were measured. (3) 5 plastic surgeons used pressure simulation measuring equipment to vigorously press the temporal region of the real skull model according to the clinical practice and maintain 2 s to obtain the maximum pressure value. The additional pressure on the temporal region was obtained by subtracting the common carotid artery base pressure [set at 90, 120, 150 and 200 mmHg (1 mmHg = 0.133 kPa)] from the maximum pressure.Results:(1) 8 arteries were collected from 4 skull specimens. The length of vessels was (169.5±7.2) mm, the diameter of the starting point of vessel was (4.29±0.28) mm, the diameter of the ending point of vessel was (1.31±0.15) mm, and the volume was (1.56±0.21) ml. (2) There were 11 males and 9 females among 20 patients aged 23-53 years. The length of vessels was (172.2±7.6) mm, the diameter of the starting point of vessel was (5.63±0.43) mm, the diameter of the ending point of vessel was (1.77±0.16) mm, and the volume was (1.59±0.23) ml. (3) The mean value of additional pressure generated by local pressure on the temporal region by 5 physicians was (127.2±10.1) mmHg (113.8-138.6 mmHg).Conclusion:When the injection volume into the superficial temporal artery was more than 1.6 ml, the artery was damaged, and the temporal area was pressed strongly (the local pressure was more than 110 mmHg above the basic pressure), the injection material might flow into the intracranial from the junction of the common carotid artery and into the internal carotid artery, which was the possible mechanism of the temporal filling leading to intracranial embolism.

Objective: Through a retrospective analysis of serology and nucleic acid screening data of unpaid blood donors in south Zhejiang region, the role of nucleic acid detection in the reduction of transfusion-related infectious diseases was discussed. Methods: 179 369 unpaid blood donation in south Zhejiong province from Jan, 2016 to Dec, 2016 was chosen. Enzyme linked immunosorbent (ELISA) test for blood index of infectious hepatitis B virus surface antigen (HBsAg), hepatitis C virus antibody (anti-HCV), human immunodeficiency virus antigen and antibody. At the same time the roche, haoyuan nucleic acid detection system were used for HBV-DNA, HCV-RNA, HIV-RNA in 6 or 8 doses mix samples three projects joint detection.NAT results of the serum with negative results in the serological tests were made statisticala analysis. Results: A total of 259 ELISA-/NAT+ samples were detected, HBV-DNA+ 255 cases, HCV-RNA+ 5 cases, one case of HBV-DNA and HCV-RNA + , with a positive rate of 0.14%. The analysis system of roche nucleic acid mix inspection rate of positive was 1.40%, and the split inspection rate of positive was 60.72%. The mix inspection positive rate of the haoyuan analysis system was 1.63%, and the split inspection rate of positive was 41.67%. Conclusions The detection of nucleic acid can make up the deficiency of serological test, and effectively reduce the leakage of transfusion-related infectious diseases, and ensuring the blood safety in this area.

Objective:To explore the value of two-dimensional speckle tracking echocardiographic imaging (2D-STI) for assessing partial and global left ventricular functional changes at pre-and post-percutaneous coronary intervention (PCI) in patients with chronic total coronary occlusion.
Methods:Echocardiograph was conducted in 23 chronic total coronary occlusion patients at pre-PCI and 1 day, 3, 6 months post-PCI to examine left ventricular ejection fraction (LVEF), meanwhile 2D-STI was applied to obtain the global longitudinal strain (GLS) value of left ventricle.
Results:In all 23 patients, for LVEF, compared with pre-PCI (59.29±12.15)%, it was increased at 3 and 6 months post-PCI (60.00±12.35)%and (61.37±11.8)%respectively, all P<0.05;for GLS value, compared with pre-PCI (-12.77d wit )%, it was decreased at 1 day and 3, 6 months post-PCI (-13.23ecrea)%and (-15.67ecrea)%, (-16.97ecrea)%respectively, all P<0.05.
Conclusion:PCI could effectively improve left ventricular function in patients with chronic total coronary occlusion, 2D-STI technology may quantitatively assess those changes at the early stage.

Objective To investigate the effects of X-ray beam hardening from contrast agent on CT values on CTA images.Methods The 20 mL syringes were numbered 1 to 26.The syringe 1,4,7,23 and 20 were filled with 1 mL,0.8 mL,0.6 mL,0.4 mL and 0.2 mL of iodine contrast medium (300 mg I/mL),respectively,and then mixed each of them with 0.9％ NaC1 solution to get a total of 20 mL solution in each syringe.The rest of 26 syringes were filled with 20 mL of 0.9％ NaC1 solution,as the experimental group to simulate carotid artery CTA examination.Matched 26 numbered syringes were filled with 20 mL 0.9％ NaC1 solution respectively,as control group to simulate plain scan.CT scans were performed,CT values were measured,and then the difference of CT values of 0.9 ％ NaCl solution in two groups was analyzed statistically.Results The mean,maximum and minimum CT values of saline in the experimental group vs control group were (-0.139±10.322) HU vs (5.585±2.939) HU,14.6 HU vs 9.7 HU,-23.8 HU vs-2.4 HU,respectively,and the differences were significant (t=2.695,P＜0.05).The CT values of saline around the high concentrations of iodine solution showed a large fluctuation range.Conclusion The X ray beam hardening effects caused by high concentration of iodine contrast on carotid artery CTA phase,may cause significant fluctuations of CT values.

Objective:To report one case of renal clear cell carcinoma transferred to the nasal cavity and sinuses treated by low temperature coblation assisted nasal malignant tumor resection under nasal endoscopye, and to review the associated literatures.Methods: Under nasal endoscope, the tumor was removed along the lateral wall of the nasal cavity with bipolar electrocautery and coblation.The vaseline gauze was used to stop bleeding, and the tumor was completely removed.Results: The intraoperative frozen section showed a capillary hemangioma.The patient was diagnosed as metastatic renal cell carcinoma to the nasal cavity and sinuses by the results of pathology and immunohistochemical staining.The postoperative recovery was uneventful and the nasal packing was removed 3 d after operation.Conclusion: Renal clear cell carcinoma transferred to the nasal cavity and sinuses is rare;under nasal endoscope, surgical resection is a good procedure to control metastasis.

The zinc-finger antiviral protein (ZAP) is a host factor that specifically inhibits the replication of certain viruses by eliminating viral mRNAs in the cytoplasm. In previous studies, we demonstrated that ZAP directly binds to the viral mRNAs and recruits the RNA exosome to degrade the target RNA. In this article, we provide evidence that a DEXH box RNA helicase, DHX30, is required for optimal antiviral activity of ZAP. Pull-down and co-immunoprecipitation assays demonstrated that DHX30 and ZAP interacted with each other via their N terminal domains. Downregulation of DHX30 with shRNAs reduced ZAP's antiviral activity. These data implicate that DHX30 is a cellular factor involved in the antiviral function of ZAP.
Cytoplasm ; metabolism ; physiology ; DEAD-box RNA Helicases ; metabolism ; Humans ; Immunoprecipitation ; Protein Binding ; physiology ; RNA ; metabolism ; physiology ; RNA Helicases ; metabolism ; physiology ; RNA, Messenger ; metabolism ; physiology ; RNA, Viral ; metabolism ; RNA-Binding Proteins ; metabolism