OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with Primary ciliary dyskinesia (PCD). METHODS: A child who presented at the ENT Department of Zhengzhou University Children's Hospital in March 2024 due to secretory otitis media, chronic sinusitis, adenoid hypertrophy, dextrocardia, and bronchiectasis was selected as study subject. Relevant clinical data were collected. Peripheral blood samples from the child and her family members were collected. Following DNA extraction, whole exome sequencing was carried out. Candidate variants were validated by Sanger sequencing, and the correlation between the variants and phenotype was analyzed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-K-135). RESULTS: The child and her elder siblings exhibited similar clinical manifestations including recurrent cough, secretory otitis media, chronic sinusitis, tracheobronchitis, and pneumonia. The child also presented with bronchiectasis and visceral situs inversus. Genetic testing results indicated that the child and her elder siblings had all harbored compound heterozygous variants of the DNAH11 gene, namely c.3000 1G>A and c.5775C>G (p.Tyr1925*), which were respectively inherited from their phenotypically normal parents. Both variants can affect mRNA splicing and protein translation integrity. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic. It was predicted that they may jointly lead to a functional defect in axonemal dynein, resulting in the phenotype of PCD, conforming to an autosomal recessive inheritance. CONCLUSION The compound heterozygous variants c.3000 1G>A and c.5775C>G (p.Tyr1925*) of the DNAH11 gene probably underlay the pathogenesis of PCD in this pedigree. The same variant in different individuals may lead to different clinical phenotypes, which has reflected significant heterogeneity in genetic background and clinical phenotype. Above findings have enriched the mutational spectrum of PCD gene and have important implications for the accurate diagnosis, treatment, prognosis, and genetic counseling.
Humans ; Pedigree ; Female ; Axonemal Dyneins/genetics* ; Male ; Child ; Asian People/genetics* ; Kartagener Syndrome/genetics* ; Mutation ; Phenotype ; China ; Adult ; East Asian People

Objective:To explore the feasibility, practicality, and safety of the day surgery management model for the treatment of patent ductus arteriosus with Da Vinci robotic surgery in children.Methods:A non-randomized controlled study was conducted.The clinical data of children with patent ductus arteriosus who underwent Da Vinci robotic surgery at Children′s Hospital, Zhejiang University School of Medicine from August 2020 to December 2023 were collected and retrospectively analyzed.The patients were divided into day surgery group and non-day surgery group according to whether they had discharged within 24 hours. t-test and Chi-square tests were used to compare the differences in clinical features, perioperative complications and prognosis between the two groups of patients.In addition, the satisfaction of the treatment effect was surveyed. Results:A total of 276 children were included in this study, with an age ranging from 6 to 154 months with a median of 34 months.The weight ranged from 6.2 to 63.2 kilograms, with a median of 13.5 kilograms.The operation time ranged from 23 to 90 minutes, with a median of 45 minutes.One hundred and thirty-five patients underwent day surgery and 141 patients underwent non-day surgery.The average age and average weight of the patients in the day surgery and non-day surgery groups was (43.7±30.8) months vs.(42.4±30.2) months and (15.0±6.4) kg vs.(14.8±6.9) kg, respectively.There was no statistically significant difference in age and weight between the two groups (all P>0.05).There was no difference in perioperative data and incidence of perioperative complications between the two groups (all P>0.05).However, the length of hospital stay of the day surgery group was significantly shorter than that of the non-day surgery group[(1.0±0) days vs.(2.5±0.9) days, t=-20.993, P<0.001], and the hospitalization cost of the day surgery group was also significantly lower than that of the non-day surgery group[(50 800±1 100) yuan vs.(53 500±3 900) yuan, t=-10.040, P<0.001].Both families of the two groups were satisfied with the treatment results, and there was no difference in satisfaction between the two groups ( χ2=0.501, P=0.479). Conclusions:The day surgery management model of Da Vinci robotic surgery for the treatment of pediatric patent ductus arteriosus is safe and feasible.To a certain extent, it can reduce the length of hospital stay, treatment costs, and treatment burden.

Objective:To analyze the effects of entecavir on tear secretion and tear film function in patients with hepatitis B virus (HBV) infection.Methods:A retrospective analysis was conducted on the clinical data of 24 patients with HBV infection who received treatment with entecavir at the Department of Ophthalmology, Affiliated Hospital of Shaoxing University from April to October 2022. The relevant examination results of dry eye in these patients were analyzed before medication and at 1 and 3 months after medication.Results:Before medication, 13 cases (54.17%) had dry eye, and 3 months after medication, 17 cases (70.83%) had dry eye. At 1 and 3 months after treatment with entecavir, the Ocular Surface Disease Index values of the patients were (13.83 ± 7.11) points and (15.29 ± 6.94) points, respectively. There was no significant difference in Ocular Surface Disease Index value between before and after treatment ( t = -0.24, -1.24, both P>0.05). At 1 and 3 months after treatment, the Schirmer I test results were (8.74 ± 2.40) mm and (8.21 ± 2.40) mm, respectively. The Schirmer I test results at 3 months after treatment were significantly lower than those before treatment ( t = 2.12, P<0.05). At 3 months after treatment, the tear film break-up time was reduced to (7.63 ± 1.97) seconds, which was significantly shorter than the value recorded before treatment ( t = 2.12, P<0.05). At 3 months after treatment, the height of the tear meniscus was (0.21 ± 0.06) mm, which was significantly different from that measured before treatment ( t = 2.26, P<0.05).At 3 months after treatment, the red eye index increased compared with the value recorded before treatment, but the difference was not statistically significant ( t = -0.35, -0.94, both P>0.05). Conclusions:Patients with HBV infection are prone to developing dry eye syndrome. After treatment with entecavir, there may be a reduction in tear secretion and a decline in tear film function, which should be a concern for clinicians.

Objective:To analyze the effects of entecavir on tear secretion and tear film function in patients with hepatitis B virus (HBV) infection.Methods:A retrospective analysis was conducted on the clinical data of 24 patients with HBV infection who received treatment with entecavir at the Department of Ophthalmology, Affiliated Hospital of Shaoxing University from April to October 2022. The relevant examination results of dry eye in these patients were analyzed before medication and at 1 and 3 months after medication.Results:Before medication, 13 cases (54.17%) had dry eye, and 3 months after medication, 17 cases (70.83%) had dry eye. At 1 and 3 months after treatment with entecavir, the Ocular Surface Disease Index values of the patients were (13.83 ± 7.11) points and (15.29 ± 6.94) points, respectively. There was no significant difference in Ocular Surface Disease Index value between before and after treatment ( t = -0.24, -1.24, both P>0.05). At 1 and 3 months after treatment, the Schirmer I test results were (8.74 ± 2.40) mm and (8.21 ± 2.40) mm, respectively. The Schirmer I test results at 3 months after treatment were significantly lower than those before treatment ( t = 2.12, P<0.05). At 3 months after treatment, the tear film break-up time was reduced to (7.63 ± 1.97) seconds, which was significantly shorter than the value recorded before treatment ( t = 2.12, P<0.05). At 3 months after treatment, the height of the tear meniscus was (0.21 ± 0.06) mm, which was significantly different from that measured before treatment ( t = 2.26, P<0.05).At 3 months after treatment, the red eye index increased compared with the value recorded before treatment, but the difference was not statistically significant ( t = -0.35, -0.94, both P>0.05). Conclusions:Patients with HBV infection are prone to developing dry eye syndrome. After treatment with entecavir, there may be a reduction in tear secretion and a decline in tear film function, which should be a concern for clinicians.

Objective:To explore the feasibility, practicality, and safety of the day surgery management model for the treatment of patent ductus arteriosus with Da Vinci robotic surgery in children.Methods:A non-randomized controlled study was conducted.The clinical data of children with patent ductus arteriosus who underwent Da Vinci robotic surgery at Children′s Hospital, Zhejiang University School of Medicine from August 2020 to December 2023 were collected and retrospectively analyzed.The patients were divided into day surgery group and non-day surgery group according to whether they had discharged within 24 hours. t-test and Chi-square tests were used to compare the differences in clinical features, perioperative complications and prognosis between the two groups of patients.In addition, the satisfaction of the treatment effect was surveyed. Results:A total of 276 children were included in this study, with an age ranging from 6 to 154 months with a median of 34 months.The weight ranged from 6.2 to 63.2 kilograms, with a median of 13.5 kilograms.The operation time ranged from 23 to 90 minutes, with a median of 45 minutes.One hundred and thirty-five patients underwent day surgery and 141 patients underwent non-day surgery.The average age and average weight of the patients in the day surgery and non-day surgery groups was (43.7±30.8) months vs.(42.4±30.2) months and (15.0±6.4) kg vs.(14.8±6.9) kg, respectively.There was no statistically significant difference in age and weight between the two groups (all P>0.05).There was no difference in perioperative data and incidence of perioperative complications between the two groups (all P>0.05).However, the length of hospital stay of the day surgery group was significantly shorter than that of the non-day surgery group[(1.0±0) days vs.(2.5±0.9) days, t=-20.993, P<0.001], and the hospitalization cost of the day surgery group was also significantly lower than that of the non-day surgery group[(50 800±1 100) yuan vs.(53 500±3 900) yuan, t=-10.040, P<0.001].Both families of the two groups were satisfied with the treatment results, and there was no difference in satisfaction between the two groups ( χ2=0.501, P=0.479). Conclusions:The day surgery management model of Da Vinci robotic surgery for the treatment of pediatric patent ductus arteriosus is safe and feasible.To a certain extent, it can reduce the length of hospital stay, treatment costs, and treatment burden.

AIM: To observe and analyze the effectiveness and safety of wearing corneal refractive therapy(CRT)and vision shaping treatment(VST)designed orthokeratology in controlling myopic progression in adolescents with low E-value corneal morphology.METHODS: This prospective study involved 100 cases(100 eyes)of adolescent myopia patients fitted with orthokeratology at our optometry clinic from January 2020 to December 2021. The data of right eye were collected for research, and they were divided into low myopia group(-1.00 to -3.00 D)and moderate myopia group(-3.25 to -5.00 D)according to spherical equivalent, with 50 cases in each group. Each group of patients was further randomly divided into the CRT group and the VST group, with 25 cases in each group. Uncorrected visual acuity, refractive error, axial length(AL), tear film break-up time(BUT), corneal endothelial cell density, corneal staining grading, lens decentration, and refractive power at 15°-30° were measured before and after wearing orthokeratology, with a follow-up duration of 1.5 a.RESULTS: The uncorrected visual acuity of CRT and VST subgroups in the low myopia group showed no statistical significance at any time point after wearing orthokeratology. However, in the moderate myopia group, CRT subgroup showed better uncorrected visual acuity than the VST subgroup, with significant differences at 1 d and 1 wk(t=-9.474, -12.067, both P<0.01); no significant differences were noted at other time points. After wearing lens for 6 mo and 1.5 a, the AL growth for the CRT subgroup in low and moderate myopia was less than the VST subgroup, with no statistically significant differences. There were no statistically significant differences in binocular BUT and corneal endothelial cell density after wearing lens for 6 mo and 1.5 a. Corneal injury was lower in the CRT subgroup than that in the VST subgroup, but the difference was not statistically significant(Z=-1.803, P=0.071). Lens decentration was significantly better in the CRT subgroup than in the VST subgroup(Z=-4.629, P<0.001). In the periphery of the retina at 15°-30°, there were no significant differences in the amount of myopic defocus between the two groups, while it was statistically significant at 1, 3, and 6 mo in the moderate myopia subgroup(t=-3.949, P=0.008; t=-5.833, P<0.001; t=-6.231, P<0.001), indicating that CRT subgroup could produce a greater amount of myopic defocus.CONCLUSION: For patients with low E-value corneal morphology, CRT, using the vector height at 8 mm on the cornea for fitting, is not limited to the corneal E-value. It shapes faster and improves uncorrected visual acuity after shaping, especially for moderate myopia, achieving better daytime vision. In terms of controlling myopia, CRT fitting elevates return zone depth(RZD), creating a small central optical zone to produce more peripheral myopic defocus. However, there was no significant difference between the two groups in controlling AL growth. Both groups showed minimal corneal damage, indicating consistent safety in myopia control.

Objective To explore the prognostic impact and clinical application value of therapeutic plasma exchange(TPE)intervention timing and liver injury periodization in patients with exertional heat stroke(EHS).Methods Data of 127 EHS patients from the First Medical Center of the General Hospital of the People′s Liberation Army from January 2011 to December 2023 were collected,then divided into the death group and the survival group based on therapeutic outcomes and into 5 stages according to the dynamic changes of ALT,AST,TBIL and DBIL.According to propensity score matching analysis,11 patients in the survival group and 12 patients in the death group were included in the statistical analysis,and 20 of them were treated with TPE.The changes in indicators and clinical outcomes before and after TPE were observed,in order to evaluate the impact of intervention timing on prognosis.Results Among the 23 patients,14 had no liver injury or could progress to the repair phase,resulting in 3 deaths(with the mortality rate of 21.43%),while 9 patients failed to pro-gress to the repair phase,resulting in 9 deaths(with the mortality rate of 100%),with significant differences(P＜0.05).The mortality rate of the first TPE intervention before the third stage of liver injury was 23.08%(3/13),while that of interven-tion after reaching or exceeding the third stage was 85.71%(6/7),and the difference was statistically significant(P＜0.05).Conclusion TPE should be executed actively in EHS patients combined with liver injury before the third phase to lock its pathological and physiological processes,thereby improving prognosis and reducing mortality.

Cholelithiasis, a prevalent disease of the digestive system, is characterized by its intricate and diverse mechanisms, which are influenced by a complex interplay of genetic, environmental, lifestyle, and other factors. Recently, with the widespread application of molecular biology techniques, the role of the biliary tract microecological environment in the pathogenesis of gallstones has garnered increasing attention. This review includes the most recent and pertinent literature on the association between biliary tract microecology and gallstones, summarizing the latest research advancements in this field. Furthermore, it delves into the role of the biliary tract microecology in the formation of both cholesterol and pigment gallstones.

Objective To explore the value of problem-based learning(PBL)and case-based learning(CBL)combined with picture archiving and communication system(PACS)in clinical teaching of vascular ultrasound.Methods Sixty undergraduate students who interned in the Department of Vascular Ultrasound from January to June 2024 were randomly divided into two groups.The experimental group consisted of 30 students and used the PBL and CBL teaching model combined with PACS for teaching.The control group consisted of 30 students and used traditional teaching methods and small lectures.After 30 days of study,the teaching effectiveness was evaluated through professional assessment and satisfaction questionnaire survey.Results The theoretical assessment,operation assessment,and report analysis assessment scores of the experimental group were significantly higher than those of the control group(P<0.05).In the questionnaire survey,students'degree of satisfaction with the teaching model of the experimental group was significantly better than that of the control group(P<0.05).Conclusion The application of the PBL and CBL teaching model combined with PACS for practical teaching of vascular ultrasound diagnosis helps improve teaching effectiveness and increase students'degree of satisfaction.

Objective: To assess the feasibility and efficacy of a staged invasive treatment strategy for the treatment of pulmonary atresia with intact ventricular septum, in the first stage using a catheter-based stent placement, second-stage surgery, and three-stage atrial septal occlusion. Methods: Totally 19 children with pulmonary atresia with intact ventricular septum were enrolled at Department of Cardiovascular Surgery, the Children′s Hospital of Zhejiang University School of Medicine from January 2009 to December 2017, including 11 male and 8 female patients. The age was (13.8±7.7) days (ranging from 3 to 35 days). The weight was (3.4±0.5) kg (ranging from 2.8 to 4.1 kg). Among them, there were 13 cases of type Ⅱ and 6 cases of type Ⅲ. Regular follow-up visits for patients with stage Ⅰ arterial duct stenting after 1, 3, and 6 months; and routine follow-ups for 1, 3, and 6 months after stage Ⅱ surgery.The t test was used to compare the oxygen saturation between pre-operation and post-operation. Results: All 19 patients underwent arterial catheterization. The preoperative peripheral oxygen saturation was (64.4±5.3)%, while increased to (86.0±3.0)% after operation (t=16.353, P=0.000). One patient died during follow-up and 2 patients lost follow-up. One patient received stent balloon dilatation due to oxygen saturation decrease.Twelve patients completed the second-stage surgery and 1 case died after surgery. The rest were alive, including 2 cases of double-ventricular correction and 9 cases of semi-ventricular treatment in one room; 2 cases had completed three-stage atrial septal occlusion. Conclusions Stage Ⅰ arterial duct stent, stage Ⅱ surgery, and stage Ⅲ atrial septal occlusion to treat pulmonary atresia with intact ventricular septum in children is feasible and effective. The method can be used as the important treatment direction for pulmonary atresia with intact ventricular septum.