Objective To investigate the feasibility of reverse transcription_polymerase chain reaction (RT_PCR) to evaluate the inactivation efficacy of viruses in water, and to discuss the mechanisms of HAV inactivation by chlorine. Methods Cell cultrue, ELISA method and long_overlapping RT_PCR were developed to detect the infectivity, antigenicity and entire genome of HAV inactivated by chlorine. Results The cell culture results revealed that the infectivity was completely inactivated after exposure to 10 mg/L or 20 mg/L of cholrine for more than 30 minutes, the antigenicity was completely inactivated after exposure to 10 mg/L of chlorine for 60 minutes. The 5' nontranslated region (5'NTR) of neculear acids of HAV was the most sensitive to chlorine, which was confirmed with the inactivation of infectivity of HAV. Conclusions The results implied that the inactivation of HAV by chlorine was due to the loss the 5' NTR. It was believed that PCR could be used to assess the efficacy of disinfection of HAV by chlorine and also could be applied to research the inactivation mechanisms of viruses by disinfectants.

Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" . The gene sequencing confirmed that the child carried a de novo deletion of c. 2843_2844 delAA in OFD1 gene. Conclusion The child has typical clinical features of Joubert syndrome, such as MRI "molar syndrome" , developmental abnormalities of ocular tissue and limb, visceral inversion, and so on.The OFD1 gene had a novel deletion mutation through gene detection. Combined clinical features with gene detection, it was clear that the child was a rare case of Joubert syndrome type 10 which was the first case of Joubert syndrome caused by OFD1 gene mutation in China.

Objective Radiation safety of emergency repair personnel in the reactor cabin under the natural circulation condition of the reactor is studied, the radiation protection method of emergency repair personnel in the reactor cabin is described, which provides a theoretical reference for personnel radiation protection and emergency repair time control. Methods The radiation was simulated by the Monte Carlo method for emergency repair personnel in the reactor cabin under the natural circulation condition of the reactor, and the radiation was also analyzed with the radiation data measured by experiments in the reactor cabin under the natural circulation condition of the reactor. Results The neutron dose of external irradiation about reactor simulated computation was 140 μSv/h, and gamma radiation dose rate was 48 μSv/h. By experiment and calculation, the effective dose received by emergency repair personnel in the 30-minutein the reactor cabin was 2.2 mSv. Conclusions Under the natural circulation condition of the reactor, the gamma radiation is harmful to emergency repair personnel, but the focus of protection is different locations for maintenance. It's safe for emergency personnel to repair the reactor in 30 minutes in turn, wearing the respirators.

Objective To explore the application value of laparoscopic pedicled omentum acquisition technique in laparoscopic breast-conserving surgery of breast carcinoma.Methods From November 2016 to November 2017,there were 11 patients with breast carcinoma underwent laparoscopic breast-conserving surgery and breast plastic surgery with laparoscopic pedicled omentum acquisition technique in Beijing Friendship Hospital,Capital Medical University,and retrospectivly analyzed the clinical data of these patients.The operation time,intraoperative blood loss,drainage tube time,length of incision,surgical complications,postoperative cosmetic effect and tumor recurrence were recorded and analyzed.Results In 11 patients,the average of the total operation time was 186 min,the average intraoperative blood loss was 22 ml,the average drainage tube time was 3.1 d,and the average total length of the incision was 5.2 cm.There was no severe complication after surgery but only one patient had an increase of belching.The postoperative cosmetic results were excellent with the mean score was 14.7 (the total score was 15) along with getting full score in "shape of breast" and "scar of the incision".There was no locoregional recurrence or distant metastases.Conclusion The combination of laparoscopic breast-conserving surgery of breast carcinoma and the laparoscopic pedicled omentum acquisition technique assure the recovery of the breast shape safely and effectively,also provide better postoperative cosmetic results.

OBJECTIVE: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome). METHODS: Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents. RESULTS: NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent. CONCLUSION The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
Child ; Family ; Female ; Genetic Testing ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics* ; Mutation

Objective:To explore the genetic etiology of a child suspected for peroneal muscular atrophy.Methods:The child and his parents were analyzed by using next generation sequencing.Results:The child was found to harbor compound heterozygous variants of c. 52G>T (p.Glu18X) and c. 1390C>T (p.Arg464X) of the PRX gene, which were inherited from his father and mother, respectively. Among these, the c. 52G>T variant was previously unreported. Based on the standards and guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2+ PM3, PVS1+ PM3-Strong+ PM2+ BS2). Conclusion:The compound heterozygous variants of the PRX gene probably underlay the Charcot-Marie-Tooth disease type 4F in this child. Above finding has enriched the mutational spectrum of the PRX gene.

Objective To investigate the genetic cause for a family with multiorgan dysplasia and“molar tooth sign” on MRI image.Method The patient,a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected .Next generation sequencing was performed to analyze his clinical and genetic causes .Result Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity , short limbs, coloboma of optic disc and choroid , situs inversus.Cranial MRI showed “molar tooth sign”.The gene sequencing confirmed that the child carried a de novo deletion of c.2843_2844 delAA in OFD1 gene.Conclusion The child has typical clinical features of Joubert syndrome , such as MRI “molar syndrome”, developmental abnormalities of ocular tissue and limb , visceral inversion , and so on.The OFD1 gene had a novel deletion mutation through gene detection . Combined clinical features with gene detection , it was clear that the child was a rare case of Joubert syndrome type 10 which was the first case of Joubert syndrome caused by OFD 1 gene mutation in China .

Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.

Objective:To investigate the safety and the efficacy of percutaneous and surgical approach in femoro-femoral veno-arterial extracorporeal membrane oxygenation (VA-ECMO) cannulation.Methods:All consecutive patients implanted with femoro-femoral VA-ECMO between January 2018 and December 2020 in Beijing Anzhen Hospital, Capital Medical University. Propensity score matching was used to compare outcomes of percutaneous and surgical groups while controlling for confounders.Results:Among the 276 patients who received femoro-femoral VA-ECMO (62 surgical and 214 percutaneous), propensity-score matching selected 52 pairs of patients with similar characteristics with mean age of(59.6±13.0)years old, in which 26 patients were female. There were a lower ECMO cannulation-associated complication (28.8% vs. 48.1%, P=0.044) and a lower hospital mortality (42.3% vs. 67.3%, P=0.010) in the percutaneous group. The circuit blood flow after ECMO initiation was similar in both groups[(3.3±0.8)L·min -1·kg -1 in percutaneous group vs. (3.2±0.7)L·min -1·kg -1 in surgical group, P=0.738]. The serum lactate was declined in both group after ECMO initiation[(5.4±5.8)mmol/L vs. (9.2±6.9)mmol/L, P<0.001 in percutaneous group; (6.3±6.2)mmol/L vs. (10.5±7.0)mmol/L, P=0.003 in surgical group]. Conclusion:Percutaneous approach is a safe and efficient technique in emoro-femoral VA-ECMO cannulation. Compared with surgical cannulation, percutaneous approach is associated with lower ECMO cannulation-associated complication and lower hospital mortality.

Objective:To analyze the status of extracorporeal membrane oxygenation (ECMO) for poisoned patients in China, and prognosis, complications and risk factors for death in poisoned patients supported with ECMO.Methods:The data of adult poisoned patients registered in Chinese Society of Extracorporeal Life Support (CSECLS) database were collected. Patients were divided into the survival group and death group according to the conditions at discharge. The type of poisoning, patient prognosis, hemodynamic parameters and complications before and after ECMO were retrospectively analyzed.Results:A total of 96 poisoned patients supported with ECMO were included in the database from 2017 to 2022, including 77 adult patients. The use of ECMO for poisoning was more common in Henan Province (28 cases, 36%), Guangdong Province (11 cases, 14%) and Zhejiang Province (9 cases, 8%). The number of adult poisoned patients registered in the database increased over time from 2017 to 2022, but the survival rate showed no significant difference ( P = 0.794). Agricultural poisoning was the most common indication (43%). Veno-arterial (V-A) ECMO was used in 60 patients (78%) and venovenous (V-V) ECMO in 27 patients (22%). Thirty-two patients (42%) survived to hospital discharge. The mean duration of ECMO support was 57 (34, 123) h, the mean duration of mechanical ventilation was 88 (33, 211) h, the mean length of hospital stay was 10 (2, 21) days, and the mean length of ICU stay was 9 (2, 18) days. Multivariate analysis showed that 24-h lactic acid level was significantly associated with mortality ( OR = 0.378, 95% CI: 0.183-0.779, P = 0.008). Conclusions:ECMO can be used as a salvage strategy to treat various types of severe poisoning. Although the application of ECMO is expanded rapidly in China, it is still necessary to optimize intervention indications and treatment timing, and adopt standardized ECMO management and monitoring strategies to improve the prognosis of patients.