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 summarize and analyze the clinical efficacy of negative pressure suction bell in the treatment of young children (≤6 years) with pectus excavatum. Methods The relevant clinical medical records of the children with pectus excavatum who received negative pressure suction bell treatment in the Outpatient Department of Children’s Hospital of Chongqing Medical University from May 2019 to January 2023 were collected. The age, sex, type, severity, depth of depression, duration of use and prognosis of children with pectus excavatum were retrospectively analyzed. Results A total of 100 pediatric patients were ultimately included in the study, comprising 74 males and 26 females. The age distribution was 57 patients aged 0-3 years and 43 patients aged 3-6 years. All patients were prescribed and used a negative pressure suction device for at least 3 months, after which they returned to our department's outpatient clinic for follow-up. The treatment demonstrated clinical effectiveness in 99 patients, yielding an efficacy rate of 99.00%. The excellent/good rate was 52.00%, and the complication rate was 8.00%. After treatment, the Haller index and the depth of sternal depression were reduced compared with those before treatment (P<0.001), and there was no statistical difference in the effective rate and excellent/good rate between different genders, different ages, different types of pectus excavatum, or different severity (P＞0.05). Conclusion Negative pressure suction bell is safe and effective in the treatment of young children (≤6 years) with pectus excavatum, and the correction effect has nothing to do with gender, type and severity.

Background Irritable bowel syndrome with diarrhea(IBS-D)is a common gastrointestinal dysfunction disease,but currently,single Western medicine treatments have significant side effects and are prone to recurrence.Probiotics and traditional Chinese medicine have certain therapeutic effects on IBS-D,but the exact treatment mechanism is still unclear,and there is limited research on the combination of the two.Objective To investigate the effects of Chongkang Capsules combined with Bifidobacterium on gut microbiota,mucosal barrier function,and neurotransmitter levels in patients with IBS-D and comorbid anxiety and depression,and to analyze its therapeutic mechanisms.Methods A total of 150 patients with irritable bowel syndrome with diarrhea(IBS-D)and anxiety and depression who were treated in the gastroenterology department of our hospital from January 2021 to June 2022,were selected as the study subjects.A randomized controlled trial was designed with three treatment groups:50 patients in the observation group received Chongkang Capsules combined with Bifidobacterium for 4 weeks;50 patients in the positive control group received Rifaximin combined with Bifidobacterium for 4 weeks;and 50 patients in the blank control group received Bifidobacterium alone for 4 weeks(to exclude interference from the bacterial species in the Bifidobacterium capsules in intestinal flora detection).The changes in IBS-D symptom severity,stool consistency,anxiety and depression scores(HAM-A/HAM-D),intestinal flora(lactobacilli,Bifidobacterium,bacteroides,enterobacteria),intestinal barrier markers(serum D-lactic acid,DAO),inflammatory factors(IL-6,IL-8,TNF-α),intestinal tight junction proteins(Occludin,ZO-1),neurotransmitters(5-HT),and recurrence rates were compared among the three groups before and after treatment.Results Symptom improvement:the improvement in IBS-SSS scores,stool classification,and HAM-A/HAM-D scores in the observation and positive control groups was significantly better than that in the blank control group(all P<0.001),but there was no significant difference between the two groups(P>0.05).Flora regulation:after treatment,the observation and positive control groups showed a significant increase in beneficial bacteria(lactobacilli and Bifidobacterium)and a significant decrease in pathogenic bacteria(bacteroides and enterobacteria)compared to the blank control group(all P<0.001).The improvement in flora persisted up to 6 months after treatment(P<0.001).Barrier and inflammation:the reduction in serum D-lactic acid,DAO,and IL-6/IL-8/TNF-α levels was significantly greater in the observation and positive control groups than in the blank control group(all P<0.001).The expression of intestinal barrier proteins(Occludin and ZO-1)was significantly upregulated(P<0.001).Neurotransmitters:the increase in serum 5-HT levels were significantly higher in the two groups than in the blank control group(P<0.001).Recurrence rate:the 3-month recurrence rates in the observation group(8.0%)and positive control group(10.0%)were significantly lower than that in the blank control group(30.0%).The 6-month recurrence rates(14.0%vs.16.0%vs.44.0%)also showed significant differences(all P<0.05).Conclusion Chongkang Capsules combined with Bifidobacterium can effectively alleviate clinical symptoms in patients with IBS-D and comorbid anxiety and depression.The mechanism may be related to regulating intestinal flora balance,repairing the intestinal mucosal barrier,suppressing inflammatory responses,and increasing 5-HT levels.Additionally,the low recurrence rate suggests its clinical application value.

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.

Background Irritable bowel syndrome with diarrhea(IBS-D)is a common gastrointestinal dysfunction disease,but currently,single Western medicine treatments have significant side effects and are prone to recurrence.Probiotics and traditional Chinese medicine have certain therapeutic effects on IBS-D,but the exact treatment mechanism is still unclear,and there is limited research on the combination of the two.Objective To investigate the effects of Chongkang Capsules combined with Bifidobacterium on gut microbiota,mucosal barrier function,and neurotransmitter levels in patients with IBS-D and comorbid anxiety and depression,and to analyze its therapeutic mechanisms.Methods A total of 150 patients with irritable bowel syndrome with diarrhea(IBS-D)and anxiety and depression who were treated in the gastroenterology department of our hospital from January 2021 to June 2022,were selected as the study subjects.A randomized controlled trial was designed with three treatment groups:50 patients in the observation group received Chongkang Capsules combined with Bifidobacterium for 4 weeks;50 patients in the positive control group received Rifaximin combined with Bifidobacterium for 4 weeks;and 50 patients in the blank control group received Bifidobacterium alone for 4 weeks(to exclude interference from the bacterial species in the Bifidobacterium capsules in intestinal flora detection).The changes in IBS-D symptom severity,stool consistency,anxiety and depression scores(HAM-A/HAM-D),intestinal flora(lactobacilli,Bifidobacterium,bacteroides,enterobacteria),intestinal barrier markers(serum D-lactic acid,DAO),inflammatory factors(IL-6,IL-8,TNF-α),intestinal tight junction proteins(Occludin,ZO-1),neurotransmitters(5-HT),and recurrence rates were compared among the three groups before and after treatment.Results Symptom improvement:the improvement in IBS-SSS scores,stool classification,and HAM-A/HAM-D scores in the observation and positive control groups was significantly better than that in the blank control group(all P<0.001),but there was no significant difference between the two groups(P>0.05).Flora regulation:after treatment,the observation and positive control groups showed a significant increase in beneficial bacteria(lactobacilli and Bifidobacterium)and a significant decrease in pathogenic bacteria(bacteroides and enterobacteria)compared to the blank control group(all P<0.001).The improvement in flora persisted up to 6 months after treatment(P<0.001).Barrier and inflammation:the reduction in serum D-lactic acid,DAO,and IL-6/IL-8/TNF-α levels was significantly greater in the observation and positive control groups than in the blank control group(all P<0.001).The expression of intestinal barrier proteins(Occludin and ZO-1)was significantly upregulated(P<0.001).Neurotransmitters:the increase in serum 5-HT levels were significantly higher in the two groups than in the blank control group(P<0.001).Recurrence rate:the 3-month recurrence rates in the observation group(8.0%)and positive control group(10.0%)were significantly lower than that in the blank control group(30.0%).The 6-month recurrence rates(14.0%vs.16.0%vs.44.0%)also showed significant differences(all P<0.05).Conclusion Chongkang Capsules combined with Bifidobacterium can effectively alleviate clinical symptoms in patients with IBS-D and comorbid anxiety and depression.The mechanism may be related to regulating intestinal flora balance,repairing the intestinal mucosal barrier,suppressing inflammatory responses,and increasing 5-HT levels.Additionally,the low recurrence rate suggests its clinical application value.

Objective    To compare and analyze the treatment effect of thoracoscopic surgery and traditional open surgery on infants with congenital diaphragmatic eventration, and summarize the experience of thoracoscopic surgery in infants with congenital diaphragmatic eventration. Methods    We retrospectively analyzed the clinical data of 105 children with congenital diaphragmatic eventration who received operation in the Department of Cardiothoracic Surgery of Children’s Hospital of Chongqing Medical University from January 2010 to January 2019. The patients were divided into an open group and a thoracoscopic group according to the operation methods. There were 41 patients in the thoracoscopic group, including 30 males and 11 females, with an average of 13.42±11.08 months (range: 1 d to 3 years). There were 64 patients in the open group, including 44 males and 20 females, with an average age of 8.21±9.33 months (range: 15.0 d to 1.6 years). The operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, hospital stay and other operation indexes as well as the mortality, recurrence rate and complication rate of the two groups were observed. Results    The operation indexes such as operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, thoracic drainage time, CCU stay and hospital stay of the thoracoscopic group were better than those in the open group (P<0.05). There was no statistical difference between two groups in postoperative diaphgram muscles descent, postoperative feeding time or patients needing thoracic drainage (P>0.05). The incidence of postoperative complications in the thoracoscopic group (19.51%) was lower than that in the open group (23.44%, P>0.05), and the difference in mortality and recurrence rate between the two groups was not statistically significant (P>0.05). Conclusion    Both thoracoscopic diaphragmatic plication and traditional open surgery can effectively treat congenital diaphragmatic eventration, but compared with traditional open surgery, thoracoscopic diaphragmatic plication has the advantages of shorter operation time, less trauma, more rapid recovery and fewer complications, so it should be the first choice for children with congenital diaphragmatic eventration.

Objective: To investigate the cleaning effects of biofilm cleaning agent and two kinds of multi-enzyme detergents on endoscopic biofilm. Methods: Endoscopic biofilm model was established using pseudomonas aeruginosa, and soaked with No. 1 multi-enzyme detergent, No. 2 multi-enzyme detergent, and biofilm cleaning agent respectively. The control group was cleaned with sterile water. After 5, 10, and 15 minutes at room temperature, the cleaning effects were evaluated by bacteria counting method and scanning electron microscope. Arova was used for the comparison of viable counts among groups. Results: At 5, 10, and 15 minutes of soak, the standard colony counts (CFU/cm²) of biofilm was 5.31±0.10, 5.04±0.08 and 4.90±0.16 in the No.1 multi-enzyme detergent group, 5.53±0.30, 5.39±0.21 and 5.03±0.42 in the No.2 multi-enzyme detergent group, and 3.53±0.30, 3.01±0.07 and 2.82±0.26 in the biofilm cleaning agent group, and 7.92±0.21 in the blank control group. There was no significant difference in the colony counts between the two multi-enzyme detergent groups (P>0.05). However, the colony counts of biofilm cleaning agent group was less than that of the two multi-enzyme detergent groups (P<0.05), and decreased with time (P<0.05). Under scanning electron microscope, the biofilm cleaning agent group had the least residual biofilm and bacteria. Conclusion Biofilm cleaning agent can significantly improve the quality of endoscopic cleaning, and is worthy of clinical promotion.

Angiokinases, such as vascular endothelial-, fibroblast- and platelet-derived growth factor receptors (VEGFRs, FGFRs and PDGFRs) play crucial roles in tumor angiogenesis. Anti-angiogenesis therapy using multi-angiokinase inhibitor has achieved great success in recent years. In this study, we presented the design, synthesis, target identification, molecular mechanism, pharmacodynamics (PD) and pharmacokinetics (PK) research of a novel triple-angiokinase inhibitor WXFL-152. WXFL-152, identified from a series of 4-oxyquinoline derivatives based on a structure-activity relationship study, inhibited the proliferation of vascular endothelial cells (ECs) and pericytes by blocking the angiokinase signals VEGF/VEGFR2, FGF/FGFRs and PDGF/PDGFR simultaneously . Significant anticancer effects of WXFL-152 were confirmed in multiple preclinical tumor xenograft models, including a patient-derived tumor xenograft (PDX) model. Pharmacokinetic studies of WXFL-152 demonstrated high favourable bioavailability with single-dose and continuous multi-dose by oral administration in rats and beagles. In conclusion, WXFL-152, which is currently in phase Ib clinical trials, is a novel and effective triple-angiokinase inhibitor with clear PD and PK in tumor therapy.

Pectus excavatum is the most common congenital deformity of the chest wall in children.Currently, surgery remains to be the most effective treatment available for this disease.The Nuss procedure has become the most widely used technique in clinical work since 1998.However, the optimal operation time remains controversial, no consensus exists among surgeons.Mostly, surgeons from western countries believe it′s best to repair the deformity around the time of puberty, while Chinese surgeons prefer to perform the surgery earlier, mainly at three to six years old, or around school age.Hence, this review was carried out to summarize the surgical results and postoperative complications of Nuss procedure among different age groups, purposed to offer a reference for the rational decision of pediatric surgeons.

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.