Objective:To summarize the clinical features and genetic characteristics of Congenital bile acid synthetic disorder type 3 (BASD3) disorder caused by CYP7B1 gene variation.Methods:This was a case series study. Clinical data and genetic results of 2 cases of congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variations in the Department of Infectious Diseases, Children′s Hospital of Fudan University at Xiamen and Department of Pediatrics, Women and Children′s Hospital, School of Medicine, Xiamen University from January 2021 to December 2023 were retrospectively collected and analyzed. Literature up to December 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of " Congenital bile acid synthetic disorder type 3""Oxysterol 7-alpha-hydroxylase""Oxysterol 7α-Hydroxylase Deficiency""BASD3" and "CYP7B1 liver" both in Chinese and English. The main clinical features and genetic characteristics of BASD3 disorder caused by CYP7B1 gene variations were summarized.Results:Two BASD3 patients, 1 male and 1 female, were admitted at the ages of 3 months and 18 days, and 2 months and 7 days, respectively. Both patients presented with neonatal cholestasis and hepatomegaly. Biochemical evidence indicated direct hyper-bilirubinemia with elevated aminotransferase levels, while gamma-glutamyltransferase (GGT) and total bile acid levels were normal or nearly normal. Patient 1 was a compound heterozygotes of the CYP7B1 gene variants c.525-526insCAAGTTGG(p.Asp176GInfs*15) and c.334C>T(p.Arg112Ter). Patient 1 jaundice resolved and liver function tests normalized after oral administration of chenodeoxycholic acid (CDCA). Patient 2 was homozygous for variant c.334C>T(p.Arg112Ter) in CYP7B1 gene. Patient 2 was in liver failure status already and not reactive to oral CDCA administration. Patient 2 received living-related liver transplantation for enhanced abdominal CT revealed a liver tumor likely vascular origin. Literature review revealed no cases of BASD3 reported in Chinese literature, including 2 patients in this study, while 12 patients (9 males and 3 females) were reported in 9 English literatures. All of the 12 manifested jaundice and hepatosplenomegaly in infancy, with cirrhosis, liver failure, kidney enlargement, hypoglycemia, and spontaneous bleeding in some cases, polycystic kidney disease was demonstrated in 5 cases of them. The c.334C>T (p.Arg112Ter) of the CYP7B1 gene was homozygous in 4 cases and compound heterozygous in 2 cases. Among the 12 children, 6 cases received CDCA treatment, while 6 cases not. Four survived with their native liver in the 6 cases who received CDCA therapy, while none in the 6 cases not received CDCA therapy.Conclusions:BASD3 is a rare hereditary cholestatic disorder. Markedly elevated levels of conjugated bilirubin and aminotransferases, with normal or nearly normal GGT and total bile acid levels can serve as diagnostic clue. c.334C>T is the most common pathogenic variant of the CYP7B1 gene. Timely administration of CDCA may save the liver.

Objective To investigate the effect of dynamic lung compliance(Cdyn)-guided indi-vidualized positive end-expiratory pressure(PEEP)on postoperative atelectasis in children undergoing craniofacial reconstruction.Methods Eighty children under general anesthesia undergoing craniofacial re-construction were selected,52 males and 28 females,aged≤1 year,ASA physical status Ⅰ or Ⅱ,anes-thesia duration≥2 hours.According to the random number table method,the children were divided into two groups:Cdyn-guided individualized PEEP group(group Ⅰ)and fixed PEEP group(group P),40 chil-dren in each group.PEEP titration was performed in group Ⅰ after assessing the lung ultrasound(LUS)score 5 minutes after intubation,and the PEEP corresponding to the highest value of Cdyn was an individualized PEEP.In group P,PEEP was fixed 6 cmH2O.The parapleural consolidation score,the B-line score,the total score of LUS,and the incidence of atelectasis were recorded 5 minutes after intubation and at the end of the operation.Cdyn,Ppeak,HR and MAP were recorded 5 minutes after intubation and after PEEP was established.Oxygenation index(OI)was recorded 5 minutes after intubation and at the end of the operation.The incidence of postoperative pulmonary complications within 72 hours after operation were recorded.Results Median individualized PEEP with highest dynamic compliance during titration was 9 cmH2O in group Ⅰ.Compared with 5 minutes after intubation,the total parapleural consolidation score,posterior tho-racic parapleural consolidation score,total B-line score and anterior lateral posterior chest B-line score,and total score of LUS were significantly decreased in both groups at the end of the operation(P＜0.05).Com-pared with group P,the total score of parapleural consolidation,posterior chest parapleural consolidation score,total score of B-line and posterior chest B-line score,and total score of LUS,the incidence of atelec-tasis were significantly decreased in group I at the end of the operation(P＜0.05).Compared with group P,Cdyn and Ppeak in group Ⅰ were significantly increased after PEEP establishment(P＜0.05),OI at the end of the operation was significantly increased(P＜0.05),and the incidence of postoperative pulmonary complications within 72 hours after operation was significantly decreased in group Ⅰ(P＜0.05).Conclusion Intraoperative application of Cdyn-guided individualized PEEP can effectively reduce LUS score and atelectasis at the end of craniofacial reconstruction in children,improve oxygenation function,and reduce the incidence of postoperative pulmonary complications.

China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.

Objective:To identify the risk factors for the first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence (PRS).Methods:Clinical data of pediatric patients with PRS who underwent mandibular distraction osteogenesis from January 2018 to February 2023 were collected, including sex, age, premature birth, birth weight, surgical weight, cleft palate, syndrome type PRS, laryngeal/tracheobronchial malacia, simple congenital heart disease, complex congenital heart disease, preoperative mechanical ventilation, preoperative pulmonary infection, blood albumin concentration, difficulty in tracheal intubation under a visual laryngoscope, surgical duration, postoperative ventilator-associated pneumonia, duration of mechanical ventilation at first weaning, and traction length at first weaning. Children in whom the first postoperative machine withdrawal failed were included in observation group and matched to control cases(control group) in a 1∶4 ratio. The risk factors of which P values were less than 0.05 would enter the logistic regression analysis to stratify the risk factors for postoperative weaning failure. Results:There were significant differences in birth weight, cleft palate, duration of mechanical ventilation and traction length at first weaning, rate of combined cleft palate, preoperative pulmonary infection rate, rate of preoperative mechanical ventilation, and rate of postoperative ventilator-associated pneumonia between the two groups ( P<0.05). Binary logistic stepwise regression analysis showed that the preoperative mechanical ventilation ( OR=18.154, 95% CI 3.971-82.990, P<0.001) and postoperative ventilator-associated pneumonia ( OR=36.942, 95% CI 1.307-1043.985, P=0.034) were independent risk factors for first weaning failure after mandibular distraction osteogenesis, while birth weight gain ( OR=0.225, 95% CI 0.076-0.668, P=0.007) was a protective factor for first weaning failure ( P<0.05). Conclusions:Preoperative mechanical ventilation and postoperative ventilator-associated pneumonia are independent risk factors and birth weight gain is a protective factor for first weaning failure following mandibular distraction osteogenesis in pediatric patients with PRS.

ObjectiveTo observe the clinical efficacy of herb-partitioned moxibustion on the navel combined with Yishen Tongluo prescription in the treatment of infertility induced by idiopathic asthenozoospermia （iAZS） with kidney-Yang deficiency and collateral obstruction syndrome and its effect on sperm DNA damage and superoxide dismutase （SOD） in the seminal plasma. MethodsA total of 112 eligible patients who met the inclusion criteria were randomly divided into an observation group （56 cases） and a control group （56 cases）. The patients in the observation group were treated with herb-partitioned moxibustion on the navel combined with Yishen Tongluo prescription，while those in the control group received levocarnitine oral liquid. The primary observation indicators included spouse pregnancy rate，progressive motility （PR），and total sperm motility，and the secondary observation indicators included sperm DNA fragmentation index （DFI），SOD in the seminal plasma， and improvement of TCM syndromes. The treatment cycle was 12 weeks. Before and after treatment，the PR，total sperm motility，sperm DFI，SOD in the seminal plasma， and TCM syndrome scores were recorded. The patients were followed up for 12 weeks and the pregnancy status of spouses within 24 weeks （half a year） was recorded. The clinical efficacy of the two groups was evaluated. ResultThe pregnancy rate of spouses in the observation group was 15.69% （8/51）， higher than 3.85% （2/52） in the control group （χ²=4.118，P<0.05）. The total effective rate of the observation group was 88.24%（45/51）， superior to 69.23% （36/52）in the control group （Z=-3.402，P<0.01）. After treatment， PR， total sperm motility，sperm DFI， SOD in the seminal plasma， and TCM syndromes of the two groups were improved compared with those before treatment （P<0.05）， and the observation group was superior to the control group （P<0.05）. ConclusionHerb-partitioned moxibustion on the navel combined with Yishen Tongluo prescription in the treatment of iAZS-induced infertility patients with kidney-Yang deficiency and collateral obstruction syndrome can increase PR，total sperm motility， and SOD level in the seminal plasma， reduce sperm DFI，improve the TCM symptoms of patients， and improve the pregnancy rate of spouses. The mechanism may be attributed to the fact that this treatment can increase the SOD level in the seminal plasma of patients，enhance the body's antioxidant function，protect sperm from oxidative stress damage，and reduce sperm DFI.

Objective Taking three-dimensional (3D) motion capture system (MoCap) as the gold standard, a deep learning fusion model based on bi-lateral long short-term memory (BiLSTM) recurrent neural network and linear regression algorithm was developed to reduce system error of the Kinect sensor in lower limb kinematics measurement. Methods Ten healthy male college students were recruited for gait analysis. The 3D coordinates of the reflective markers and the lower limb joint centers were simultaneously collected using the MoCap system and the Kinect V2 sensor, respectively. The joint angles of lower limbs were calculated using the Cleveland clinic kinematic model and the Kinect kinematic model, respectively. The dataset was constructed using the MoCap system as the target and the angles via the Kinect system as the input. A BiLSTM network and a linear regression model for all lower limb angles were developed to obtain the refined angles. A leave-one subject-out cross-validation method was employed to study the performance of the models. The coefficient of multiple correlations (CMC) and root mean square error (RMSE) were used to investigate the similarity and the mean deviation between the joint angle waveforms via the MoCap and the Kinect system. ResultsIn comparison with the linear regression algorithm, the BiLSTM had better performance in the aspect of dealing highly nonlinear regression problems, especially for hip flexion/extension, hip adduction/abduction, and ankle dorsi/plantar flexion angles. The deep learning refined model significantly reduced the system error of Kinect. The mean RMSEs for all joint angles were mainly smaller than 10°, and the RMSEs of the hip joint were smaller than 5°. The joint angle waveforms presented very good similarity with the golden standard. The CMCs of joint angles were greater than 0.7 except for hip rotation angle. Conclusions The markerless gait analysis system based on deep learning fusion model developed in this study can accurately assess lower limb kinematics, joint mobility, walking functions, and has good prospect to be applied in clinical and home rehabilitation.

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

Monkeypox is a zoonotic disease.Previous studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications.In order to improve pediatricians′ understanding of monkeypox and achieve early detection, early diagnosis, early treatment and early disposal, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health formulate this expert consensus, on the basis of the latest clinical management and infection prevention and control for monkeypox released by the World Health Organization (WHO), the guidelines for diagnosis and treatment of monkeypox (version 2022) issued by National Health Commission of the People′s Republic of China and other relevant documents.During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.

Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.

Objective To evaluate the efficacy of nasotracheal intubation for airway management in neonates with Pierre Robin sequence undergoing surgery with general anesthesia. Methods Sixty full-term neonates of both sexes with Pierre Robin Sequence, aged 2-28 days, weighing 2. 4-3. 8 kg, scheduled for elective mandibular distraction osteogenesis, were divided into 2 groups ( n=30 each) using a random num-ber table method: nasotracheal intubation group (group N) and orotracheal intubation group (group O). Combined intravenous-inhalational anesthesia was used during surgery. The success rate of intubation, intu-bation time, heart rate, mean arterial pressure and SpO2 during intubation, and occurrence of complica-tions during intubation were recorded, and the time of extubation and occurrence of complications after extu-bation were also recorded. Results Compared with group O, the intubation time was significantly short-ened, the first-time intubation success rate was increased, the heart rate and mean arterial pressure were decreased at 2 min after intubation, the lowest SpO2 was increased during intubation, and the incidence of pharyngeal soft tissue injury during intubation and hoarseness after extubation was decreased in group N ( P<0. 05) . Conclusion Nasotracheal intubation can be used for airway management in neonates with Pierre Robin sequence undergoing surgery under general anesthesia, and the efficacy is superior to that of orotra-cheal intubation.