Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Objective To investigate the effect of early involvement in clinical practice in improving comprehensive abilities of medical students and strengthening their occupational cognition. Methods The students in the 5-year class of 2014 of pediatrics in our university were enrolled as subjects, among whom 78 students who received early involvement in clinical practice and teaching were enrolled as experimental group and 81 students who did not receive such teaching were enrolled as control group. A questionnaire survey was performed for the students participating in the teaching, including basic information, pre-training quality evaluation, development of personal knowledge and abilities, and comments or suggestions. The two groups were compared in terms of the score of the theoretical course of pediatric surgery, so as to explore whether"early involvement in clinical practice"could improve the theoretical study of students. Finally, the performance of students in clinical practice was evaluated and compared between the two groups to assess the role of "early involvement in clinical practice" in improving comprehensive abilities and occupational cognition. Results More than 90％of the students were satisfied with early involvement in clinical practice and they thought this activity helped them to improve clinical thinking, strengthen occupational cognition, enhance learning interests, improve communication skills, and promote the combination of basic and clinical knowledge. In addition, the follow-up analysis found that compared with the control group, the experimental group had a significantly higher average score [(74.59 ±0.50) vs. (68.89 ±0.67)] and a significantly higher proportion of students with a score of >70, and no students failed. As for the score of clinical practice, the experimental group had significantly better clinical work proficiency, clinical thinking, operational ability,and doctor-patient communication ability than the control group. Conclusion Early involvement in clinical practice among medical students can improve their comprehensive abilities and help to cultivate clinical thinking and doctor-patient communication skills and strengthen their occupational cognition, which lays a good foundation for cultivating high-quality talents through medical education.

Objective To evaluate the efficacy of quadrates lumborum block for unilateral inguinal hernia repair in elderly patients. Methods Fifty-eight elderly patients with unilateral inguinal hernia of both sexes, aged 65-80 yr, with body mass index of 18-25 kg∕m2 , of American Society of Anesthesiolo-gists physical status Ⅱ or Ⅲ, scheduled for elective unilateral tension-free repair, were divided into 2 groups ( n=29 each) using a random number table method: iliohypogastric-ilioinguinal nerve block group (group T) and quadrates lumborum block group (group Q). Iliohypogastric-ilioinguinal nerve block with arteria circumflexa ilium profunda as a marker was carried out with 0. 33％ ropivacaine 20 ml under ultra-sound guidance in group T. The anterior approach to quadratus lumborum block was performed with 0. 33％ropivacaine 20 ml under ultrasound guidance in group Q. Operation was started after the height of sensory block was assessed by pin-prick test at 30 min after block. When the blocking effect did not meet the opera-tion requirements, an increment of 1％ lidocaine 2. 5 ml was given every time in the surgical field until op-eration requirements were met. Dexmedetomidine was intravenously infused at a rate of 0. 03-0. 07μg·kg-1 ·min-1 during surgery until the end of surgery to maintain Narcotrend index between 80 and 90. When postoperative visual analogue scale score >3, parecoxib sodium 40 mg was intravenously injected, and if marked pain relief was not found 10 min later, tramadol hydrochloride 50-100 mg was intravenously injected. The upper spread of sensory block and intraoperative requirement for additional local anesthetics were recorded at 30 min after nerve block. The requirement for parecoxib and tramadol was recorded within 48 h after operation. The development of inadvertent intravascular injection of local anesthetics, local anes-thetic intoxication and postoperative nausea and vomiting, nerve block of lower extremity and uroschesis was recorded. Results Skin pain disappeared at the plane of T11-L1 in group T and at the plane of T9-L1 in group Q. Compared with group T, the intraoperative requirement for and consumption of local anesthetics, postoperative requirement for parecoxib and tramadol, and postoperative incidence of nausea and vomiting were significantly decreased in group Q ( P<0. 05) . Conclusion Quadrates lumborum block provides bet-ter efficacy for unilateral inguinal hernia repair than iliohypogastric-ilioinguinal nerve block in elderly pa-tients.

Objective To explore the advantages and security of orthopaedic TiRobot used to assist internal fixation with sacroiliac lag screws.Methods From December 2015 to August 2017,11 patients with fracture of pelvic posterior ring or sacroiliac separation were treated by internal fixation with sacroiliac lag screws assisted by an orthopaedic TiRobot at Department of Orthopaedic Surgery,Affiliated Hospital to Chengdu University.They were 7 men and 4 women,aged from 23 to 61 years (average,42.5 years).According to AO classification,there were one case of type B1.2,one case of type B2.2,6 cases of type C1.2,2 cases of type C1.3 and one case of type C2.3.The number of sacroiliac lag screws inserted,time for planning insertion approaches,fluoroscopy frequency,fluoroscopy time,exposure time of C-arm X-ray,operation time,blood loss and reduction quality were documented.Results The 11 patients were followed up for 5 to 22 months (average,9.5 months).A total of 15 sacroiliac screws were inserted.In the operations,time for planning insertion approaches averaged 8.5 minutes (from 9 to 25 minutes),fluoroscopy frequency 8.5 times (from 4 to 15 times),fluoroscopy time 5.5 minutes (from 3.2 to 6.5 minutes),exposure time of C-arm X-ray machine 5.8 seconds (from 2.4 to 16.3 seconds),operation time 34.5 minutes (from 25 to 45 minutes),and blood loss 35 mL (from 10 to 80 mL).All the screw positions were satisfactory,with no penetration into the sacral canal,sacral foramen or bone cortex.No postoperative neurovascular injury happened.All the incisions primarily healed.All the fractures united well after 4 to 7 months (average,5.6 months),without any screw loosening.By the Matta scoring for fracture reduction,9 cases were excellent,one was good and one fair.By the Majeed functional scoring for pelvic fractures,8 cases were rated as excellent and 3 as good at the last follow-up.Conclusion Orthopaedic TiRobots can be used to assist internal fixation with sacroiliac lag screws in the treatment of pelvic posterior ring injuries,with advantages of limited invasion,time,hemorrhage,and high safety and accuracy as well.

Objective To compare intramedullary nail (IN) and dynamic hip screw (DHS) regarding their effects on hip abduction following fixation of intertrochanteric fractures.Methods From January 2008 to December 2015,310 patients with intertrochanteric firacture were treated at our department.They were divided into 2 groups depending on the manner of treatment.198 patients (71 males and 127 females) were subjected to intramedullary nailing,with an average age of 74.7 ± 5.6 years;there were 50 cases of 31-A 1,134 ones of 3 1-A2 and 14 ones of 3 1-A3 according to the AO classification.112 patients (35 males and 77 females) were subjected to dynamic hip screwing,with an average age of 74.1 ± 6.7 years;there were 24 cases of 31-A1,78 ones of 31-A2 and 10 ones of 31-A3.The 2 groups were compared in terms of time for weight-bearing ambulation and stand on one leg,gait,pelvic tilt,range of hip active abduction,muscle strength of the abductor and hip function at the final follow-up.Results Of this series,284 patients were followed up for 1.5 to 8.5 years (average,3.6 years) and 26 patients died.The IN group achieved significantly better outcomes in terms of time for weight-bearing ambulation (37.6 ±4.9 d),time for stand on one leg (60.1 ± 9.5 d),cases of normal gait and normal pelvic tilt (171 and 179),muscle strength of the abductor (62.3 ±4.4 N · m),and range of hip active abduction than the DHS group (53.0 ±8.4 d;71.0 ± 12.0 d;67 and 85;56.6 ± 3.3 N · m,respectively) (P ＜ 0.05).There was no significant difference between the 2 groups in the hip function at the final follow-up(91.4％ versus 84.5％ in the excellent and good rate)(P ＞ 0.05).Conclusion Compared with dynamic hip screwing,intramedullary nailing has a limited effect on hip abduction so that the patients may benefit from quicker functional recovery and faster improvement in quality of life.