Background：Previous Studies have focused on the associations between individual factors within the cerebral palsy (CP) population. However, there is limited research that systematically describes or constructs comprehensive networks for interaction analysis.
Objective：To develop an innovative methodological framework with novel indicators, cut-off values, and decision pathways and to provide support for exploring the interactions between health-related factors in CP.
Design：Mixed-Methods： study.
Methods：A systematic literature search was conducted to identify relevant studies on associations or interactions between muscle tone and health-related factors in CP (Step 1). Characteristic data reflecting the effects or interactions of muscle tone were extracted from the selected studies (Step 2). Statistical analysis Methods： used to evaluate the relationships were identified and summarized (Step 3). A definition of muscle tone was established, and other health-related information associated with muscle tone was categorized according to various guideline dimensions (Step 4). Based on this information and multidisciplinary perspectives, indicators for evaluating relationships and their threshold values were proposed (Step 5). A logical framework for summarizing and identifying relationships was developed (Step 6), followed by internal data testing, adjustments, and refinements (Step 7).
Main outcome measures：Methodology for identifying relationships between muscle tone and health-related factors in children and adolescents with CP.
Results：The study extracted 2 327 rows of data from 106 articles. Of these, a total of 78 articles using correlations analysis included 1 668 data points, 44 using regression analysis included 450 data points, and 13 using other statistical Methods： included 209 data points. Following the established indicators and framework, we first selected data points within the same guideline dimensions. For each dimension, we classified each article into one of three outcomes (related, uncertain, or unrelated), and subsequently derived final judgments by summarizing the outcomes of each article. After summarizing, if the proportion of uncertain articles in a dimension is ≥1/3, the relationship between muscle tone and that guideline dimension is considered uncertain. Otherwise, we classified related and unrelated articles into four distributions (n∶n, 1∶n or n∶1 or 1∶1, 0∶n or n∶0, and 0∶1 or 1∶0) and derived judgments based on two additional indicators. The appropriate sample size is calculated if need. In practice, we applied the framework to the internal data and proposed that the muscle tone may interact with four dimensions (gross motor skills, muscle strength and endurance, secondary musculoskeletal disorder, and quality of life), but not with physical activity. The relationship between muscle tone and the dimensions of gait, participation, activities of daily living, and upper limb function remains unclear.
Conclusion：This study introduced an original methodological approach for determining the relationships between muscle tone and other health-related factors in children with CP. A set of judgment indicators and threshold values were proposed, and a logical framework for identifying the relationships was developed.
Background：Abnormal muscle tone is a major factor contributing to movement and postural abnormalities in children and adolescents with cerebral palsy. It significantly affects multiple aspects of body function and structure, activity and participation, and quality of life. However, a systematic review on how abnormal muscle tone systematically interacts with other health-related factors is currently lacking.
Objective：To explore the current status of the interaction between muscle tone and other health-related factors in the children and adolescents with cerebral palsy.
Design：Systematic review.
Methods：A systematic search and screening process was conducted to identify studies examining the interaction between muscle tone and other health-related factors in children and adolescents with cerebral palsy. Characteristics of the studies were extracted including participant age, gender, Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), CP subtype, muscle tone assessment metrics, and associated health indicators. Statistical Methods： used to analyze interactions were also extracted. The associated health indicators were categorized based on the International Classification of Functioning, Disability, and Health for Children and Youth (ICF-CY). A constructed methodological framework was applied to determine the interactions between muscle tone and other health-related factors.
Main outcome measures：The current status of the interaction between muscle tone and other health-related factors.
Results：A total of 19,831 studies were retrieved from Chinese and English databases, and 106 studies were included in the final analysis (92 in English, 14 in Chinese), comprising 14,021 children and adolescents with CP. Of these studies, 6 did not report CP subtype, 12 did not restrict CP subtype, 80 focused solely on spastic CP, and 8 focused on dyskinetic CP. The assessment included 120 pyramidal system indicators (92.3%) and 10 extrapyramidal system indicators. A total of 648 health-related factors with 2,327 interaction data items were included. The top three most frequently reported associated factors were upper limb motor function (172 items, 26.5%), gait (118 items, 18.2%), and secondary musculoskeletal disorders (72 items, 11.1%). The top three interaction data categories were gait (630 entries, 27.1%), upper limb motor ability (288 entries, 12.4%), and muscle strength and endurance (264 entries, 11.3%). Among the included studies, 1,668 entries reported correlation analysis, 444 entries used regression analysis, 17 entries employed structural equation modeling, 13 entries conducted confirmatory factor analysis, and 179 entries applied other and unspecified analytical Methods：. The methodological framework was used to determine interactions between muscle tone and other health-related dimensions.
Conclusion：The factors that may interact with muscle tone in children and adolescents with cerebral palsy include gross motor skills, muscle strength and endurance, quality of life, and secondary musculoskeletal disorders. Uncertain interactive factors include gait, participation, activities of daily living, and upper limb function. The factor of physical activity may not interact with muscle tone.
Background：Children with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ALL) have a poor prognosis after relapse, and treatment is challenging. Olverembatinib has shown good efficacy in adult patients with relapsed Ph+ALL, but its efficacy and safety in children are not well defined.
Objective：To evaluate the efficacy and safety of olverembatinib in children with Ph+ALL.
Design： Case series report.
Methods：A retrospective analysis was conducted on children with Ph+ALL admitted to the department of pediatrics of Peking University People's Hospital from January 2022 to July 2024, who were treated with olverembatinib. The effects, side effects, and outcomes of the treatment were analyzed.
Main outcome measures：Complete remission (CR), minimal residual disease (MRD) negativity, major molecular response (MMR), and complete molecular response (CMR).
Results：A total of eight pediatric patients with relapsed Ph+ALL were included in the analysis, comprising six males and two females, with a median age of 9 years. Among them, three had hematologic relapse, while five had molecular relapse before receiving olverembatinib. All patients achieved CR after one treatment cycle of olverembatinib, either as monotherapy or in combination with chemotherapy. Among the three patients with hematologic relapse, the MRD negativity rate was 100%, and the MMR rate was 66%. Among the five patients with molecular relapse, the MRD negativity rate, MMR rate, and CMR rate were all 100%.The median follow-up duration was 13 months, during which all eight patients maintained CR. The MRD negativity and MMR rates remained 100%, while the CMR rate was 75%. All patients survived throughout the follow up period. Notably, one patient experienced a relapse of central nervous system leukemia (CNSL) but achieved sustained cerebrospinal fluid MRD negativity after receiving olverembatinib monotherapy combined with a single intrathecal chemotherapy injection.The adverse effects observed during treatment were mainly attributed to the combined use of chemotherapy drugs. Olverembatinib monotherapy did not cause significant discomfort in most patients; however, one patient discontinued olverembatinib due to drug-related adverse reactions.
Conclusion：For the children with relapse of Ph+ALL, olverembatinib monotherapy or in combination with chemotherapy shows good efficacy and safety.
Background：The 1997 American College of Rheumatology (ACR) criteria, the 2012 Systemic Lupus Erythematosus International Collaborating Clinics (SLICC) criteria, and the 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) criteria are widely used for diagnosing systemic lupus erythematosus (SLE) in both adults and children. However, these criteria were initially developed based on adult cohorts, and their diagnostic value in pediatric SLE requires further validation.
Objective：To evaluate the diagnostic accuracy of the three classification criteria in adult and pediatric SLE.
Design：Meta-analysis.
Methods：A literature search was conducted in PubMed, EMBASE, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang, and China Biomedical Database. Studies were selected according to predefined inclusion and exclusion criteria. Sensitivity, specificity, and the area under the curve (AUC) of the three classification criteria were compared. Heterogeneity sources were analyzed. GRADE approach was used to evaluate the certainty of evidence.
Main outcome measures：Sensitivity and specificity of SLE classification criteria in pediatric cohorts.
Results：Thirty-six studies were included, with 22 on adult SLE, 13 on pediatric SLE, and 1 on both. The 1997 ACR criteria were applied in 23 adult and 13 pediatric studies, the 2012 SLICC criteria in 22 adult and 13 pediatric studies, and the 2019 EULAR/ACR criteria in 17 adult and 10 pediatric studies. Except for sensitivity and AUC for the 2012 SLICC criteria, there were no statistically significant differences in diagnostic accuracy and AUCResults： between the three criteria in both adult and pediatric SLE. For pediatric SLE, the 1997 ACR criteria showed 5 true positives (4-5) and 1 false positive (1-2) per 100,000 people, while the 2012 SLICC and 2019 EULAR/ACR criteria showed 6 true positives (6-6) and 0 false positives (0-0) per 100,000 people. Based on the GRADE evaluation, the evidence body was rated as low quality by downgrading two levels in the meta-analysis for adult SLE using the three criteria while the GRADE result was moderate quality by downgrading 1 level in the meta-analysis for pediatric SLE.
Conclusion：In both pediatric and adult SLE, the 2012 SLICC and 2019 EULAR/ACR criteria demonstrated superior diagnostic performance compared to the 1997 ACR criteria, with similar diagnostic accuracy. The misdiagnosis rate of the 2012-SLICC and 2019-EULAR/ACR classification criteria in pediatric SLE is zero.
Background：There are few reported cases of hereditary pancreatitis (HP) in children in China.
Objective：To summarize the clinical characteristics and genetic variations of HP in children.
Design：Case series report.
Methods：Acute pancreatitis (AP), chronic pancreatitis (CP), acute recurrent pancreatitis (ARP), and HP were diagnosed based on the relevant criteria established by the International Study Group of Pediatric Pancreatitis. Medical records were included for patients whose primary diagnosis was HP in the inpatient medical records of Beijing Children's Hospital, Capital Medical University, from June 2017 to September 2023. The following information was extracted from medical records and follow-up records: sex, age at onset, age at diagnosis, family history, clinical manifestations, serological findings, imaging findings, complications, medical treatment, endoscopic retrograde cholangiopancreatography (ERCP) treatment, short-term and long-term follow-up outcomes, and genetic mutation information.
Main outcome measures：Clinical characteristics and genetic features.
Results：A total of 48 patients with HP meeting the inclusion criteria were analyzed. Among them, 30(62.5%) were male, with a mean age of onset at (8.0±3.8) years and a mean age at diagnosis of (8.7±3.7) years. The onset age was between 0 and 7 years in 45.8% of cases. AP was the initial presentation in 33 patients (68.8%), while 46 patients (95.8%) experienced varying degrees of abdominal pain. Malnutrition was observed in 23 cases (47.9%). Imaging findings revealed pancreatic calcifications in 21 patients, pancreatic swelling in 15, pancreatic duct dilatation in 14, pancreatic divisum in 12, pancreatic duct stones in 8, and pancreatic pseudocysts in 5 cases (10.4%). A total of 17 patients underwent 18 ERCP procedures, with one initial treatment failure that was successfully treated upon reattempt. Postoperatively, 10 patients (58.8%) experienced recurrence within three months, and 14 patients (82.4%) had recurrence within one year of follow-up. All 48 HP patients underwent genetic testing. Mutations were identified in SPINK1 (33 cases, 68.8%), CFTR (7 cases, 14.6%), and PRSS1 (4 cases, 8.3%). The mutations were inherited from the mother in 23 cases (47.9%), from the father in 17 cases (35.4%), from both parents in 7 cases (14.6%), and were de novo in 1 case (2.1%). Protein structure prediction indicated that 36 cases (75%) had pathogenic or likely pathogenic variants, while 12 cases (25%) had variants of uncertain significance.
Conclusion：In Chinese children with hereditary pancreatitis (HP), SPINK1 gene mutations account for a high proportion of cases and are associated with pancreatic calcifications and chronic pancreatitis. ERCP treatment plays a protective role in reducing long-term recurrence rates.
Background：Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder. There is no literature report on the association between CVS and renin angiotensin aldosterone system (RAAS).
Objective： To explore the characteristics of changes in RAAS indicators and their influencing factors in children with CVS.
Design：A case-control study.
Methods：Children diagnosed with CVS for the first time and undergoing supine RAAS system examination with blood sampling during non-attack period were included in the pediatric department of Beijing Tsinghua Changgung Hospital from January 2022 to May 2024. According to the RAASResults：, they were divided into normal and abnormal groups, and their age of onset, age of admission, gender, height, weight, admission blood pressure, average duration of episodes, average daily vomiting frequency, RAAS levels, electrolytes, cortisol, and ACTH were collected for univariate and multivariate analysis.
Main outcome measures：Possible factors influencing the normal and abnormal outcomes of RAAS.
Results：A total of 105 cases of CVS were included in this study, including 49 cases (46.7%) in the normal RAAS group and 56 cases in the abnormal RAAS group. Among them, 39 cases (69.6%) had elevated renin concentration, 28 cases (50.0%) had elevated angiotensin II concentration, and 28 cases (50.0%) had elevated aldosterone concentration. There were statistically significant differences (P<0.05) in admission age, onset age, diastolic blood pressure, and blood potassium between the two groups. Binary logistic regression analysis showed that admission age was a factor affecting RAAS abnormalities, and the younger the age, the more likely RAAS abnormalities were to occur.
Conclusion：RAAS abnormalities were present in 53.3% of children with CVS, and younger age was identified as the primary influencing factor.
Background：The incidence of high serum homocysteine (HHcy) was 37.2% in the whole population. The level of male Hcy and the incidence of male HHcy in families preparing for pregnancy are unknown.
Objective：To investigate the status of male Hcy in families preparing for pregnancy and analyze its influencing factors.
Design：A cross-sectional survey.
Methods：In the Shanghai Parent Child Birth Cohort (SPCC) from March 2016 to January 2022, men were recruited from 16 general hospitals or district maternal and child health hospitals or institutes in 9 districts of Shanghai for pre-pregnancy examination. Socio-demographic information, folic acid supplement use, smoking and alcohol consumption in the past 3 months were collected through questionnaires, and blood samples were collected to detect Hcy (≥15 μmol·LL-1 as HHcy).
Main outcome measures：Indicators influencing male Hcy in families preparing for pregnancy.
Results：A total of 16,242 men from preconception families were included in this analysis. Their ages ranged from 21.4 to 67.0 years, with a mean age of 30.5±4.5 years. Among them, 51.8% were younger than 30 years old, 47.1% had a body mass index (BMI) of ≥24 kg-2, 83.5% had an education level of a bachelor's degree or lower, and 56.2% had an annual household income of less than 200,000 RMB. The usage rate of folic acid supplements was 6.6%. The mean homocysteine (Hcy) level was 10.9 μmol·L-1 (95% CI: 8.9-13.9), with 20.5% of participants classified as having high Hcy (≥15 μmol·L-1). Multivariate logistic regression analysis revealed that folic acid supplementation (OR=0.48, 95% CI: 0.38-0.60), older age (OR=0.82, 95% CI: 0.74-0.91), higher household income (OR=0.86, 95% CI: 0.77-0.96), and residence in a traditional urban area (OR=0.84, 95% CI: 0.73-0.96) were protective factors associated with a lower risk of high Hcy levels. Conversely, smoking (OR=1.20, 95% CI: 1.09-1.33) was found to increase the risk of high Hcy levels.
Conclusion：Hcy levels in men preparing for pregnancy are relatively high, with one in five men experiencing HHcy. Health education should focus on promoting behaviors that lower Hcy levels, such as smoking cessation and folic acid supplementation.
Background：Over 100 cases of Arboleda-Tham syndrome caused by KAT6A gene mutations have been reported internationally.
Objective： To summarize the clinical and genetic features of Arboleda-Tham syndrome caused by KAT6A gene mutations.
Design：Case series report.
Methods：Children with KAT6A gene pathogenic or possibly pathogenic mutation, detected by high-throughput sequencing in the Molecular Medicine Center of the Children's Hospital of Fudan University from April 2018 to April 2024 were enrolled. Clinical information and genetic testResults： were collected. Additionally, we conducted a literature search in PubMed, CNKI, and Wanfang databases using the keywords "KAT6A" and "Arboleda-Tham Syndrome" to identify case reports with clinical and genetic mutation data published from January 2015 to June 2024.
Main outcome measures：Genotype and phenotype characteristics of pediatric patients with pathogenic KAT6A gene mutations.
Results：his study included 13 cases, comprising 10 males and 3 females. Except for one neonate, all other 12 patients exhibited neurodevelopmental disorders, with all patients older than one year showing delayed language development. The age at genetic testing ranged from 5 days to 7 years and 8 months. Heterozygous pathogenic mutations in the KAT6A gene were identified in all 13 patients, including six frameshift mutations, four nonsense mutations, two missense mutations, and one copy number deletion. Among these, 11 mutations were novel, with G1549S and R1019* having been previously reported. An analysis combining the 13 cases from this study with previously reported 101 cases with complete clinical and genetic data revealed that 113 patients(100%) presented with developmental delay/intellectual disability and speech delay, 64.6% (73/113) exhibited abnormal muscle tone, 12.4%(14/113) experienced epilepsy, and 6.2%(8/113) had hematological abnormalities. Truncating mutations, including nonsense and frameshift mutations, were the most prevalent mutation type, accounting for 86%(98/114) of cases, with R1129*(12 cases) and R1024*(9 cases) identified as hotspot pathogenic variants. Genotype-phenotype correlation analysis of the 114 cases indicated that epilepsy was more common in the missense mutation group(3/13, 23.1%) compared to the truncating mutation group(11/98, 11.3%), while hematological abnormalities were observed exclusively in the truncating mutation group.
Conclusion：Mutations in the KAT6A gene leading to Arboleda-Tham syndrome in affected children primarily manifest as developmental delay, abnormal muscle tone, epilepsy, and hematological abnormalities. The predominant type of genetic variation is truncating mutations.
Background：Contact catheter contamination is one of the common causes of peritonitis in children undergoing chronic peritoneal dialysis (PD).
Objective：To investigate the status and risk factors of catheter contamination in children undergoing chronic peritoneal dialysis.
Design：Cross-sectional survey.
Methods：The children who received chronic peritoneal dialysis treatment and follow-up at the Peritoneal Dialysis Center of Children's Hospital of Fudan University were included between January 2010 and March 2021 in this study. General data of the children and their caregivers were collected, including information on catheter contamination events from PD records and relevant factors of children's age, gender, dialysis duration, presence of siblings, caregivers' age, education level, employment status, relationship with child, and initial training assessment score and PD operator change.
Main outcome measures：Risk factors for catheter contamination.
Results：A total of 263 children undergoing chronic peritoneal dialysis (CPD) were included in the study, all of whom were treated with automated peritoneal dialysis (APD). Among them, 128 (48.7%) were male, with a mean age of (7.9±4.2) years at the initiation of APD. The median dialysis duration was 13 (5, 21) months, and 19 children (7.2%) had a caregiver change during the treatment. There are 48 catheter contamination events (18.3%), including 30 cases of dry contamination and 18 cases of wet contamination. One case of wet contamination led to peritoneal dialysis-associated peritonitis, which improved after two weeks of antibiotic treatment and hospital discharge. Children with a dialysis duration of more than two months had a higher incidence of catheter contamination compared to those with a duration of ≤2 months (20.5% vs. 6.8%, P=0.03). Additionally, children who experienced a change in APD caregivers had a significantly higher incidence of catheter contamination compared to those without a caregiver change (68.4% vs. 14.3%, P<0.001). The initial training assessment scores of primary caregivers in the catheter contamination group were significantly lower than those in the non-contamination group ［(96.3±1.1) vs. (97.1±1.2), P<0.001］. The primary influencing factors for catheter contamination events were the caregiver's initial training assessment score (OR=0.54, 95%CI: 0.40-0.74, P<0.001) and a caregiver change during dialysis (OR=12.34, 95%CI: 4.07-37.43, P<0.001).
Conclusion：Dry contamination is the predominant type of catheter contamination in children undergoing peritoneal dialysis. The primary influencing factors for catheter contamination were the initial training assessment score of the child's caregiver and a caregiver change during the dialysis process.
Background：
Objective：Transthoracic echocardiography (TTE) is an important examination method for preoperative and postoperative follow-up assessment of absent right pulmonary artery (UARPA). Reports on its echocardiographic features and changes in pulmonary artery pressure before and after surgery are relatively rare.
Design：Case series reports.
Methods：A retrospective collection of consecutive cases diagnosed with UARPA at Guangzhou Women and Children's Medical Center, Guangzhou Medical University was conducted from January 2018 to January 2024. Data on patients' gender, age, weight, clinical manifestations, preoperative and postoperative auxiliary examinationResults：, treatment, follow-up duration, and follow-up outcomes were extracted from the hospital's medical record system and summarized.
Main outcome measures：Echocardiographic features before and after surgery.
Results：A total of 37 pediatric patients with UARPA were included in this study, consisting of 18 males and 19 females. The median age was 7 months (ranging from 1 day to 6 years and 9 months), with 25 cases (67.6%) under the age of 1 year. The median body weight was 6.4 kg (range: 2.7-22.1 kg). The main clinical manifestations included tachypnea (21.6%), recurrent respiratory infections (18.9%), and recurrent hemoptysis and cyanosis (16.2% each). Among the 37 cases, 27 (73.0%) had associated congenital heart defects, with the most common being atrial septal defect (ASD) or patent foramen ovale (PFO) in 23 cases (62.2%) and patent ductus arteriosus (PDA) in 12 cases (32.4%). Additionally, one patient (2.7%) had an aberrant right subclavian artery. Pulmonary hypertension was observed in 19 patients (51.4%). Echocardiographic examination revealed that the right pulmonary artery was absent at the distal main pulmonary artery, with the main pulmonary artery continuing directly into the left pulmonary artery. The right lung received blood supply through PDA or collateral vessels originating from the aorta and its arch branches. Among the 37 patients, 27 (73.0%) underwent right pulmonary artery reconstruction surgery, with a median surgical age of 5 months (range: 11 days to 4 years and 9 months). The median postoperative follow-up period was 8 months (range: 1-52 months). At the last follow-up, only two patient (7.4%) had residual pulmonary hypertension, and four patient (14.8%) developed anastomotic site stenosis of the reconstructed right pulmonary artery. The mean blood flow velocity in the reconstructed right pulmonary artery was 2.1 ± 0.7 m·s-1.
Conclusion：UARPA is frequently associated with atrial septal defect (ASD), patent foramen ovale (PFO) or patent ductus arteriosus (PDA) and is prone to secondary pulmonary hypertension. Pulmonary artery reconstruction surgery demonstrates favorable outcomes, with a low incidence of postoperative complications. Transthoracic echocardiography (TTE) plays a crucial role in the diagnosis and postoperative assessment of UARPA.
