Children's Medical Research Articles

High mortality rates and long-term complications in children with infectious brainstem encephalitis: A study of sixteen cases.

Brainstem encephalitis (BE) can cause sudden death in children. Fewer studies have been conducted on the incidence, clinical manifestations, pathogens and post-infectious sequelae of pediatric infectious BE. Pediatric patients diagnosed with BE in our Medical Center from 01 January 2015 to 31 July 2024 were retrospectively reviewed. The clinical data of these children were obtained from the hospital's medical database on 15 August 2024. The number of outpatient and inpatient patients at our Medical Center during that period were provided by the hospital data center. Data analysis was conducted using Excel 2019. A total of twenty-eight cases were diagnosed with BE in our National Children's Medical Center over the past decade. Among them, 57.1% (16/28) cases were diagnosed with infectious BE. The incidence of infectious BE was estimated to be 16 cases per 30 million outpatient visits and 13 cases per 500,000 hospitalized patients. Fever, consciousness disorders and seizures were observed in 75.0% (12/16), 68.8% (11/16) and 62.5% (10/16) of the cases, respectively. Among them, 31.3% (5/16) cases were diagnosed as human enterovirus infections, 12.5% (2/16) cases were confirmed to be influenza B virus infections, while one case each was diagnosed with herpes simplex virus 1 and human herpesvirus 6 infection. The mortality rate during hospitalization was 12.5% (2/16). Among the surviving patients, 50.0% (7/14) of them had follow-up records, 85.7% (6/7) of the survivors suffered from sequelae such as motor disorders. Fever, consciousness disorders and seizures were the major clinical manifestations in patients with infectious BE visited our Medical Center. These rare cases exhibited a notably high mortality rate and a significant frequency of long-term complications.

Initial Antibiotic Selection Based on Microbiologic History in Pediatric Cystic Fibrosis-Related Pulmonary Exacerbations.

The Cystic Fibrosis (CF) Foundation guideline for the treatment of pulmonary exacerbations (PEx) does not address empiric antibiotic selection. The primary objective of this study is to characterize how patient-specific microbiological histories are utilized in initial antibiotic selection for CF-related PEx at a pediatric institution. The secondary outcome was to characterize why changes were made to empiric antibiotic regimens. This single-center, retrospective study evaluated individuals aged 1-21 years hospitalized for CF-related PEx at Children's Medical Center Dallas between August 1, 2016 and July 31, 2018. Among 285 screened hospital encounters, 156 encounters met inclusion criteria. Median age was 12.9 years with a median baseline forced expiratory volume (FEV1) of 84% predicted. Staphylococcus aureus, Pseudomonas aeruginosa, and Stenotrophomonas maltophilia were the organisms most targeted by empiric antibiotics with median months since last growth of 1.5, 9.2, and 5.5, respectively. A difference was observed in median time since last growth for targeted organisms versus those not targeted by the initial antibiotics, but wide overlapping timeframes were noted. Organisms isolated on admission cultures were sensitive to the initial antibiotics regimen in 78.2% of encounters. While variable, patient-specific microbiologic history and time since last growth of historical organisms are taken into consideration when selecting initial antibiotics for the treatment of PEx in children with CF. Expanding initial antibiotic coverage to target microbiological growth histories beyond 1 year prior to a hospital admission did not appear to increase the likelihood of providing coverage for organism(s) isolated on the admission sputum culture in children hospitalized for CF-related PEx.

P-703. Manifestations of parainfluenza type 4 infections and viral loads in children

Abstract Background Although parainfluenza virus type 4 (PIV-4) typically causes mild respiratory illnesses in children, it can cause severe diseases occasionally. It is not known Whether viral load of PIV-4 could correlate with severity. This study aimed to assess the relationship between PIV-4 viral load and disease’s severity in children. Viral load and severity This figure shows the relationship between severity of illness and viral load.There was no correlation between viral load and severity. Methods A retrospective study at Tokyo Metropolitan Children's Medical Center from April to October 2023 screened hospitalized children using multiplex PCR. PIV-4 positive samples were assayed for viral load of all detected viruses using real-time PCR. Cases with PIV-4 were included if PIV-4 was only detected or the viral load of PIV-4 was higher than other co-detected viruses. Demographic data, underlying diseases, laboratory, co-infections, diagnoses, and outcomes were collected from electrical charts. Cases with PIV-4 were categorized into mild cases with no oxygen demand, moderate cases with low-flow oxygen demand and severe cases with high flow nasal cannula oxygen or non-invasive/invasive mechanical ventilation or PICU admission.The viral loads of PIV-4 and number of co-infected virus were compared among severity groups. Characteristics, Symptoms and Laboratory Data of PIV-4 positive patients Results Nasal swab samples were collected from 2884 cases. PIV-4 was detected in 185 samples. As 108 cases were excluded for higher viral loads of other viruses, 77 cases were included for analysis. The severity of PIV-4 comprised 37 mild, 24 moderate, and 16 severe cases. The rate of lower respiratory tract infections in mild, moderate and severe cases were 8%, 96%, and 75%, respectively. There was only one PIV-4-related mortality at 28 days. Co-detection with rhinovirus/enterovirus was the most frequent. Median viral loads (log10 copies/mL) in mild, moderate and severe cases were 5.98 (IQR 3.58-6.89), 6.09 (IQR 4.93-6.66) and 5.98 (IQR 3.57-7.03), respectively. No significant correlation was found between viral load and severity, but severity correlated with the number of viral co-infections. Treatment and Outcome of PIV-4 positive patients Conclusion Moderate or severe Pediatric PIV-4 infections primarily show as lower respiratory tract infections, with no relation between viral load and illness severity, though the number of co-infected virus may play a role. Severity and co-infection viruses Disclosures All Authors: No reported disclosures

P-1170. Impact of Healthcare-associated Respiratory Virus Infections in Children

Abstract Background Respiratory viruses can spread within healthcare facilities despite stringent infection prevention measures. Although healthcare-associated respiratory virus infections (HARVI) pose a significant risk to children, pediatric HARVI are understudied. The present study aimed to evaluate the impact of HARVI on children following the SARS-CoV-2 pandemic at a tertiary children’s hospital. Methods This retrospective study enrolled pediatric inpatients aged ≤18 years who were hospitalized at Tokyo Metropolitan Children's Medical Center between April 2020 and March 2024. HARVI was defined as a viral infection with a new onset of respiratory symptoms past the incubation period following hospitalization. The causative virus was detected using multiplex PCR (FilmArray Respiratory Panel 2.1, BioFire). Patients with other infections were excluded. The primary outcome was the 30-day mortality rate. The secondary outcomes included PICU admission, escalation of respiratory support, and the postponement of discharge, planned surgery or chemotherapy. Results In total, 265 patients with HARVI were enrolled. Male patients comprised 31% of the cohort, and the median age was 31 (IQR [interquartile range]: 12-77) months. Underlying neurologic, cardiac, and congenital or genetic disorders had in 42%, 28%, and 24% of the cohort, respectively. The respiratory viruses detected were the rhinovirus/enterovirus (44%), parainfluenza virus type 3 (15%), and HKU1, NL63, 229E and OC43 coronaviruses (8%). The 30-day mortality rate was 1% in three patients with parainfluenza virus type 3, RSV, and SARS-CoV-2. The PICU admission rate was 2%. The rate of respiratory support escalation was 17%. Postponement of discharge was required in 7% of the cohort for a median period of seven (IQR: 5-8) days. Postponement of surgery was required in 3% of the cohort for a median period of 46 (IQR: 21-82) days. There was no postponement of chemotherapy. Conclusion Pediatric HARVI was associated with mortality and additional medical care. Therefore, strict infection prevention measures are essential. Disclosures Hanako Funakoshi, MD, Pfizer Japan: Husband is an employee.

Progression of chronic kidney disease in children with glomerulopathy

BACKGROUND. Of particular scientific and practical importance are studies aimed at assessing the clinical features of the course and morphological signs of nephrotic and nephritic syndromes in children with chronic kidney diseases of the first and second stages. THE AIM: to assess the rate of progression of glomerulopathy in children depending on the treatment regimen.PATIENTS AND METHODS. 238 children aged 1–18 years with an established nosological diagnosis of kidney damage at various stages of CKD were examined, hospitalized for treatment in the Department of nephrology at the clinic of the Tashkent Pediatric Medical Institute in the period 2010-2022 and the National Children's Medical Center from 2021–2023.RESULTS. Children with CKD were divided into two subgroups: 146 children with nephrotic syndrome (steroid-sensitive, steroid-resistant or often recurrent) and 92 children with nephritic syndrome. More than half of the children have glomerulonephritis with minimal changes. In 25.4 % of cases, they were insensitive to steroid therapy. Among patients with nephritic syndrome, 46 % had IgA nephropathy. In dynamics, the most unfavorable picture was formed in children with focal segmental glomerulosclerosis. After 12 years of follow-up, 41.7 % of them developed terminal renal failure. The least effective treatment was noted with the use of cyclophosphamide, the best with the combination of tacrolimus with mycophenolate mofetil.CONCLUSION. Treatment regimens for children with glomerulopathy are still far from perfect.

Development and Validation of KCPREDICT: A Deep Learning Model for Early Detection of Coronary Artery Lesions in Kawasaki Disease Patients.

Kawasaki disease (KD) is a febrile vasculitis disorder, with coronary artery lesions (CALs) being the most severe complication. Early detection of CALs is challenging due to limitations in echocardiographic equipment (UCG). This study aimed to develop and validate an artificial intelligence algorithm to distinguish CALs in KD patients and support diagnostic decision-making at admission. A deep learning algorithm named KCPREDICT was developed using 24 features, including basic patient information, five classic KD clinical signs, and 14 laboratory measurements. Data were collected from patients diagnosed with KD between February 2017 and May 2023 at Shanghai Children's Medical Center. Patients were split into training and internal validation cohorts at an 80:20 ratio, and fivefold cross-validation was employed to assess model performance. Among the 1474 KD cases, the decision tree model performed best during the full feature experiment, achieving an accuracy of 95.42%, a precision of 98.83%, a recall of 93.58%, an F1 score of 96.14%, and an area under the receiver operating characteristic curve (AUROC) of 96.00%. The KCPREDICT algorithm can aid frontline clinicians in distinguishing KD patients with and without CALs, facilitating timely treatment and prevention of severe complications. The use of the complete set of 24 diagnostic features is the optimal choice for predicting CALs in children with KD.

Enhanced Pneumonia Detection in Chest X-Rays Using Hybrid Convolutional and Vision Transformer Networks.

The objective of this research is to enhance pneumonia detection in chest X-rays by leveraging a novel hybrid deep learning model that combines Convolutional Neural Networks (CNNs) with modified Swin Transformer blocks. This study aims to significantly improve diagnostic accuracy, reduce misclassifications, and provide a robust, deployable solution for underdeveloped regions where access to conventional diagnostics and treatment is limited. The study developed a hybrid model architecture integrating CNNs with modified Swin Transformer blocks to work seamlessly within the same model. The CNN layers perform initial feature extraction, capturing local patterns within the images. At the same time, the modified Swin Transformer blocks handle long-range dependencies and global context through window-based self-attention mechanisms. Preprocessing steps included resizing images to 224x224 pixels and applying Contrast Limited Adaptive Histogram Equalization (CLAHE) to enhance image features. Data augmentation techniques, such as horizontal flipping, rotation, and zooming, were utilized to prevent overfitting and ensure model robustness. Hyperparameter optimization was conducted using Optuna, employing Bayesian optimization (Tree-structured Parzen Estimator) to fine-tune key parameters of both the CNN and Swin Transformer components, ensuring optimal model performance. The proposed hybrid model was trained and validated on a dataset provided by the Guangzhou Women and Children's Medical Center. The model achieved an overall accuracy of 98.72% and a loss of 0.064 on an unseen dataset, significantly outperforming a baseline CNN model. Detailed performance metrics indicated a precision of 0.9738 for the normal class and 1.0000 for the pneumonia class, with an overall F1-score of 0.9872. The hybrid model consistently outperformed the CNN model across all performance metrics, demonstrating higher accuracy, precision, recall, and F1-score. Confusion matrices revealed high sensitivity and specificity with minimal misclassifications. The proposed hybrid CNN-ViT model, which integrates modified Swin Transformer blocks within the CNN architecture, provides a significant advancement in pneumonia detection by effectively capturing both local and global features within chest X-ray images. The modifications to the Swin Transformer blocks enable them to work seamlessly with the CNN layers, enhancing the model's ability to understand complex visual patterns and dependencies. This results in superior classification performance. The lightweight design of the model eliminates the need for extensive hardware, facilitating easy deployment in resource-constrained settings. This innovative approach not only improves pneumonia diagnosis but also has the potential to enhance patient outcomes and support healthcare providers in underdeveloped regions. Future research will focus on further refining the model architecture, incorporating more advanced image processing techniques, and exploring explainable AI methods to provide deeper insights into the model's decision-making process.

Parental Acceptance of Human Papillomavirus Vaccination Among Females Treated for Childhood Cancer and/or With Hematopoietic Stem Cell Transplantation: A Cross-Sectional Study.

Survivors of childhood cancer (CCS) and hematopoietic stem cell transplantation (HSCT) recipients are at increased risk of human papillomavirus (HPV)-associated malignancies. Although HPV vaccination is recommended for these groups, parental acceptance remains uncertain. We recruited caregivers of female CCS/HSCT aged ≥9years from the Shanghai Children's Medical Center (SCMC) vaccination clinic. Caregivers of females who were at least 6months post treatment, off immunosuppressants, and disease-free were eligible. Caregivers completed a questionnaire assessing demographics, HPV knowledge, and their willingness to vaccinate their daughters. Of the 219 caregivers enrolled, 195 (89.0%) completed the survey. Among the children of caregivers who responded, 44.6% (87/195) had undergone HSCT. All respondent caregivers lacked awareness that the HPV vaccine was recommended for their daughters. Willingness to vaccinate was endorsed by 65.1% (127/195) of caregivers, and was significantly associated with a household income over ¥50,000 (p = 0.02), the mother's HPV vaccination status (p<0.001), and their daughter receiving any vaccination post therapy (p = 0.02). The most common reasons for vaccine refusal included concerns about its impact on the child's primary disease (64.7%, 44/68), vaccine safety (58.8%, 40/68), and the belief that their child was too young for HPV vaccination (50.0%, 34/68). Only 15 of the 127 (11.8%) caregivers who initially expressed willingness to vaccinate their children had actually initiated vaccination. A substantial minority of Chinese caregivers of female CCS/HSCT are hesitant to vaccinate their daughters against HPV. Addressing caregivers' knowledge deficits and misperceptions about vaccine safety and barriers to accessing HPV vaccination is important to improve uptake.

EVALUATION OF FREQUENCY, CLINICAL AND DIAGNOSTIC CHARACTERISTICS OF HEREDITARY RETINAL DYSTROPHY IN CHILDREN

Purpose – to study the frequency, clinical forms and diagnostic features of congenital hereditary retinal dystrophies among children. Materials and methods The object of the study was the database and statistical reporting forms of the Children's Medical Expert Commission of the National Ophthalmology Centre named after Academician Zarifa Aliyeva for the years 2019-2023. Based on the patients’ family history, a statistical analysis was carried out in 2 main groups: Group A consisted of children born from consanguineous marriages (n=409), while Group B comprised children born from non-consanguineous marriages (n=151). Each group was divided into 3 subgroups according to age categories (0-5, 6-10, 11-15). During the study of children diagnosed with hereditary retinal dystrophy, they were analyzed according to family history, and sex-age characteristics. Mathematical processing of statistical data was carried out using SPSS 26 software. To assess the ocular condition, a range of comprehensive ophthalmological examination methods were used, including electroretinography (ERG). The considered diagnoses were classified according to the ICD-10 nosological groups of eye pathology. Results According to the results of our study, retinal dystrophy was observed in 151 patients (27%) out of 560 children with hereditary eye diseases. Among them, 134 patients (89%) had a family history of consanguineous marriage. The clinical manifestations of these diseases were more pronounced in the 6–10-year age group. Retinitis pigmentosa occurred most frequently in children born from consanguineous marriages. The incidence was higher among boys in both groups. Conclusion Our study revealed that among congenital pathologies in children born from consanguineous marriages, there was a high frequency of retinal dystrophies (32.8%). The results indicate that, in addition to the use of modern diagnostic methods, ERG remains the gold standard for detecting this pathology and identifying its clinical manifestations. Key words: consanguineous marriages, hereditary eye diseases, retinal dystrophies

Post-traumatic Growth in the Link with Resilience, Self-compassion, and the Personal and Clinical Characteristics in Adolescents with Life-threatening Disease: A Cross-sectional Correlational Study.

Post-traumatic growth (PTG) is a significant factor influencing health outcomes. This research aims to determine the status of PTG and its correlation with resilience, self-compassion (SC) and personal and clinical characteristics in adolescents with life-threatening diseases. In this cross-sectional correlational study, 200 adolescents with life-threatening disease who were referred to clinics or hospitalized at Shohada Tajrish and children's Medical Center hospitals from June to October 2023 in Tehran, Iran, were selected through convenience sampling. Data was collected using personal and clinical characteristics form, PTG Inventory, resilience scale, and SC scale. Analysis was conducted using SPSS software version 20, employing descriptive statistics, Pearson's correlation coefficient, ANOVA, t-tests, and multiple linear regression analysis with a P value≤0.05. The study found that the mean total PTG score was 63.35±18.19, the resilience score was 82.39±13.62, and the SC score was 76.36±6.65. There was a significant difference between various treatment stages in the total PTG score (P=0.05), and PTG score was correlated with resilience (r=0.63, P<0.001) and SC score (r=0.20, P=0.04). The total resilience score was the sole predictor of the total PTG score. Higher resilience total scores during chemotherapy and radiotherapy (B=0.74, P<0.001), surgery (B=1.08, P<0.001), and drug treatment phases (B=0.89, P<0.001), were associated with higher PTG scores. While SC was positively correlated with PTG, it did not predict it (P>0.05). The study suggests that enhancing resilience in adolescents with life-threatening diseases can improve PTG. Future studies are recommended to explore the impact of resilience strategies training on PTG in this population.

Annual cholangitis more than twice predicts liver transplant in biliary atresia patients who achieve jaundice-free after Kasai portoenterostomy.

Biliary atresia (BA) is a progressive liver disease even after Kasai portoenterostomy (KPE), and the most common cause of liver transplant (LT) in the pediatric population. This study aimed to unveil the risk factors for LT in BA patients post-KPE. We conducted a retrospective study of BA patients in a northern Taiwan Children's Medical Center from Jan 2000 to Oct 2020. A total of 65 BA patients (32 males, 33 females) were included. Seventeen (26%) patients received LT. Multivariate analysis showed higher serum direct bilirubin (cutoff ≥1.1mg/dL) 3 months post-KPE (OR 8.17, p=0.037) and higher peak yearly cholangitis episodes (OR 3.32, p=0.008) independently predicted LT. In patients achieving jaundice-free (JF), yearly cholangitis frequency (OR 2.64, p=0.032) independently predicted LT (cutoff ≥3). Concerning high cholangitis frequency, the independent predictor was the first cholangitis occurring 61-120 days post-KPE (OR 6.61, p=0.034). In patients who achieved JF, bacteremia (OR 20.06, p=0.037) and higher AST level 6 months post-KPE (OR 1.02, p=0.016) independently predicted higher peak annual cholangitis frequency. Higher direct bilirubin 3 months post-KPE (≥1.1mg/dL) and higher peak annual cholangitis frequency predict LT in BA patients. The first cholangitis occurring 61-120 days post-KPE predicts higher peak annual cholangitis frequency. In patients who achieved JF, peak annual cholangitis episodes with a threshold of ≥3 independently predict LT. Bacteremia and higher serum AST levels at six months post-KPE predict higher peak annual cholangitis frequency.

The Effect of an Educational Application on The Quality of Life and Treatment Adherence in Mothers of Children with Congenital Heart Disease Undergoing Cardiac Surgery: A Randomized Clinical Trial.

The primary caregivers of children with congenital heart disease (CHD) after cardiac surgery at home are often their mothers. Therefore, the quality of life (QoL) and treatment adherence (TA) of mothers are crucial for the prognosis of these children. This study evaluated the impact of a mobile educational application on the QoL and TA in mothers of children with CHD undergoing cardiac surgery. This randomized clinical trial was conducted on 72 mothers of children with CHD referred for cardiac surgery to Children's Medical Center Hospital, Tehran, Iran, from September 2023 to May 2024. Mothers were randomly assigned to intervention (n=36) and control (n=36) groups. The intervention group received the educational app upon discharge and used it for four weeks, while the control group received standard discharge education, which consisted of face-to-face education. Data were collected using a demographic form, the 36-Item Short Form Health Survey (SF-36), and the Modanloo Treatment Adherence Questionnaire at baseline and one month post-intervention. Data were analyzed using SPSS software version 26, with independent t-test, chi-square, and analysis of covariance. A significance level of P<0.05 was considered. At baseline, no significant differences were observed between the two groups in total score of QoL (P=0.18) and TA (P=0.70). One month post-intervention, the intervention group showed significantly higher total scores in QoL (P<0.001) and TA (P<0.001) compared to the control group. Using mobile applications in home care education can significantly enhance the QoL and TA in mothers of children with CHD after surgery.Trial Registration Number: IRCT20230816059164N1.

Family’s Concerns and Associated Phobias about Using Asthma Medications in Children

Introduction. Asthma is one of the most common chronic diseases, with more than 300 million patients presented through the world. Purpose. To know the family’s concern and their phobia from usage of childhood asthma medications. Materials and methods. A cross-sectional study was done by interviewing the parents, concern and their phobia from the use of childhood asthma drugs, the study had carried out upon patients from outpatient clinics and hospitalized patients that included children age from 1 to 14 years old who had bronchial asthma, the question were concentrated on the parents concern and phobia about childhood asthma medications usage and their side effects. Results. This study involved 205 asthmatic children families, the main parents concern was about the outcome of the disease 62 (30.2%) and the side effects of medications 66 (31.7%), also study shows that phobia from drugs effect as obesity 32 (15.6%), growth failure 26 (12.7%), adduction 28 (13.7%) and palpitation 20 (9.8%). Conclusion. There was much family’s concern about childhood asthma fade and also more worries about the effects of childhood asthma medications. Введение. Астма – одно из самых распространенных хронических заболеваний в мире. В настоящее время ей страдают около 300 миллионов человек. Цель. Выяснить, что вызывает обеспокоенность и фобии в семье в связи с использованием лекарств от астмы у детей. Материалы и методы. Проведено поперечное исследование путем опроса родителей, обеспокоенных использованием лекарств от астмы у детей. В исследование были включены педиатрические пациенты поликлиник и стационаров в возрасте от 1 года до 14 лет, страдающие бронхиальной астмой. Основные вопросы касались обеспокоенности и фобий родителей по поводу использования лекарств от астмы у детей и их побочных эффектов. Результаты. Всего в исследовании приняли участие 205 семей, имеющих детей с астмой. Основное беспокойство родителей вызывали исход заболевания (62 (30,2%) случая) и побочные эффекты лекарств (66 (31,7%) случаев). Кроме того, исследование показало, что среди фобий, связанных с последствиями приема лекарственных препаратов, были развитие ожирения – в 32 (15,6%) случаях, отставание в росте – в 26 (12,7%), аддукция – в 28 (13,7%) и учащенное сердцебиение – в 20 (9,8%). Заключение. Основное беспокойство в семьях вызывали вопросы, связанные с излечением от астмы детей, а также последствия применения лекарств от астмы в детском возрасте.

Fever duration enhanced biomarker sensitivity in diagnosing radiographically confirmed community-acquired pneumonia in children.

Our aim was to examine how fever duration affected the ability of biomarkers to diagnose community-acquired pneumonia (CAP). This was a retrospective cohort study of children aged 2-18 years who attended the emergency department at Schneider Children's Medical Centre of Israel with CAP from June 2015 to May 2020. The children underwent biomarker measurements and chest radiographs and optimal biomarker thresholds were identified. Biomarker predictions of x-ray positive CAP were analysed, using receiver operating characteristic curves and area under the curve calculations. We screened 3346 children, 509 met the inclusion criteria and 363 of those had x-ray positive CAP. White blood counts of >15 000/mm3 and absolute neutrophil counts of >11 200/mm3 showed significant discriminatory power on day 2 of a fever. A neutrophil to lymphocyte ratio (NLR) of >4.5 displayed significant discriminatory power from days 2-5 and peaked on day 4. C-reactive protein of 6.23 mg/dL was discriminatory on day 4. Fever duration affected how effectively biomarkers diagnosed x-ray positive CAP and all were unreliable on day 1. The NLR showed the most consistent reliability and may be suitable for clinical decision-making. Fever duration should be considered to optimise diagnostic accuracy.

Risk factors and a prediction model of severe asparaginase-associated pancreatitis in children.

We aimed to investigate whether early clinical indicators were associated with eventual disease severity, and to develop a predictive model for severe asparaginase-associated pancreatitis (AAP). Seventy-five acute lymphoblastic leukaemia (ALL) cases with AAP admitted to Shanghai Children's Medical Center from March 2013 to August 2023 were divided into non-severe (n = 44) and severe (n = 31) groups based on Atlanta diagnostic and AAP grading criteria. We compared essential information, asparaginase(ASP) dosage form, cumulative dose, clinical characteristics and laboratory tests between the groups. Statistically significant indicators were analysed with multifactorial logistic regression to identify independent risk factors for severe AAP. Receiver operating characteristic (ROC) curves assessed the early predictive value of age, C-reactive protein (CRP) and fibrinogen (FIB) levels. In the early stages of AAP onset, significant differences in age, CRP, platelet count, red blood cell distribution width, albumin, calcium, FIB, and D-dimer levels were found between the non-severe and severe AAP groups (p < 0.05). Multifactorial logistic regression identified age (odds ratio [OR] = 1.204, p = 0.035), CRP (OR = 1.334, p = 0.003), and FIB (OR = 0.85, p = 0.008) as independent predictors of severe AAP. ROC analysis showed an area under the curves (AUC) for age was 0.681 (95% CI: 0.557-0.805), CRP was 0.766 (95% CI: 0.653-0.880), FIB was 0.735 (95% CI: 0.612-0.857). Optimal cut-off values for age, CRP, and FIB were 9.46 years, 48.5mg/L and 1.265g/L respectively. The combined AUC was 0.916 (95% CI: 0.845-0.986), with 0.903 sensitivity and 0.818 specificity, outperforming individual predictors (p < 0.05). Age, CRP, and FIB levels are good early predictors of severe AAP, and their combination significantly improves predictive accuracy.

Clinical characteristics and prognosis of children with T-lineage acute lymphoblastic leukemia: a single-center study

To study the clinical characteristics and prognosis of T-lineage acute lymphoblastic leukemia (T-ALL) and related prognostic factors. A retrospective analysis was conducted on the children with T-ALL who were treated with the Chinese Children's Cancer Group Acute Lymphoblastic Leukemia (CCCG-ALL) regimen in Guangzhou Women and Children's Medical Center between April 2015 and December 2022. A total of 80 children were included, with a median age of 7 years and 3 months and a male/female ratio of 6:1. Among these children, the children with mediastinal mass accounted for 20% (16/80), those with central nervous system leukemia accounted for 4% (3/80), and those with testicular leukemia accounted for 1% (1/69). SIL/TAL1 was the most common fusion gene (22%, 18/80), and NOTCH1 was the most common mutation gene (69%, 37/54). The median follow-up time was 52 months, with a 5-year overall survival (OS) rate of 87.3%±4.0% and a 5-year event-free survival rate of 84.0%±4.3%. The non-central nervous system-1 group had a significantly lower 5-year OS rate than the central nervous system-1 group (66.7%±16.1% vs 90.3%±3.8%; P<0.05), and the group with minimal residual disease (MRD) ≥0.01% on day 46 of induction therapy had a significantly lower 5-year OS rate than the group with MRD <0.01% (68.6%±13.5% vs 94.8%±3.0%; P<0.05). Children treated with the CCCG-ALL regimen tend to have a good treatment outcome. Non-central nervous system-1 status and MRD ≥0.01% on day 46 of induction therapy are associated with the poor prognosis in these children.

Association of NLRP3 single nucleotide polymorphisms with juvenile idiopathic arthritis: a case-control study.

Although juvenile idiopathic arthritis (JIA) is one of the most common pediatric rheumatologic diseases, the exact etiology of JIA remains unclear. Genetic factors, including variations in the NLRP3 gene, have been implicated in the pathogenesis of autoimmune diseases. Therefore, we aimed to investigate the association between NLRP3 polymorphisms and JIA. We conducted a case-control study involving 51 JIA patients and 56 healthy controls from the Children's Medical Center Hospital. Genotyping of four NLRP3 single nucleotide polymorphisms (SNPs) (rs10754558, rs3806265, rs4612666, and rs35829419) was performed using real-time polymerase chain reaction (PCR). Statistical analysis was conducted to compare allele and genotype frequencies between cases and controls. Additionally, haplotype analysis and evaluation of information interaction between SNPs were performed. Allele and genotype frequencies of the investigated NLRP3 SNPs did not show significant differences between JIA cases and healthy controls. However, a notable difference in information interaction was observed at the rs4612666/rs3806265 SNPs (p-value = 0.000426). The CCCT haplotype was associated with increased odds of JIA with an odds ratio (OR) of 2.166 (95%CI:1.156-4.06), and contrariwise, the TCGT haplotype was associated with lower odds of JIA with an OR of 0.166 (95%CI:0.036-0.763). The NLRP3 gene could be involved in the pathogenesis of JIA. Further research with larger cohorts and functional studies is warranted to confirm these findings and elucidate the underlying biological mechanisms. Key Points • No significant difference was observed in the allelic and genotype distribution of NLRP3 SNPs (rs10754558, rs3806265, rs4612666, and rs35829419) between JIA cases and the control group. • A statistically significant difference in information interaction between cases and the control group was observed in rs4612666/rs3806265 SNPs. • The CCCT haplotype was associated with a higher risk of JIA, while the TCGT haplotype was associated with a lower risk.

Coping With Anticipatory Grief: A Qualitative Study of Parents of Children With Advanced Cancer.

Anticipatory grief is a common but understudied phenomenon among parents of children with advanced cancer. Appropriate coping with anticipatory grief may promote better adaptation before and after the death. To explore the anticipatory grief experiences and coping approaches of such parents in Shanghai, China. Using Husserlian phenomenology approach, 4 fathers and 16 mothers were interviewed at the Children's Medical Center in Shanghai. The transcripts were analyzed using Colaizzi phenomenological methods. Five themes were developed. The first theme described anticipatory grief experiences characterized by trauma and chronic misery, and the next 4 themes described how the parent coped with the grief through avoidance, acceptance, hope, and being present-focused. Parents coped differently at different times-from diagnosis, the time while the child was on treatment, to the time the parents could consider the possibilities of an uncertain future. The study also found that coping with grief is an intrapersonal and interpersonal process. The study offers insights into parents' dynamic coping processes when living with grief. Nurses could play a critical role in facilitating this process of living with grief. Oncology nurses, by understanding parents' anticipatory grief, can align themselves with the parents' coping processes to provide appropriate support.

Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency

To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD). A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to "SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. Pathogenicity of the proband's variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was used to verify the variant sites of SLC22A5 gene in the proband and her parents, and the single nucleotide polymorphism (SNP) haplotype of the family was constructed by SNP microarray (SNP array) method to determine the carrier status of pathogenic genes. After fertilization via assisted reproductive technology, whole genome amplification (WGA) was performed on the biopsied trophoblastic cells. Sanger sequencing, next-generation sequencing (NGS), and SNP array techniques were then used to detect the variants in the SLC22A5 gene and chromosome copy number variation (CNV) in the embryos. Embryos without the variants were selected for transferring. After the successful pregnancy of the proband's mother, amniocentesis was not performed for prenatal diagnosis due to repeated vaginal bleeding. After delivery, neonatal peripheral blood sample was collected to verify the results of PGT-M, and follow-up was conducted. This study was reviewed and approved by the Medical Ethics Committee of Hainan Women and Children's Medical Center (Ethics No. HNWCMC-2022-178). In this study, the c.338G>A and c.760C>T variants in SLC22A5 gene were evaluated as pathogenic variants. Sanger sequencing results of this family showed that the c.338G>A and c.760C>T variants of the proband were inherited from his father and mother, respectively. Haplotypes of c.338G>A and c.760C>T variants of SLC22A5 gene were successfully constructed. PGT-M results showed that 2 of the 8 blastulas biopsied failed WGA, and the CNV detection results of the remaining 6 blastocysts were all euploid: 2 had no mutations in the SLC22A5 gene, 3 were single heterozygous carriers of paternal or maternal origin, and 1 was compound heterozygous carriers of paternal and maternal origin. Combined with the embryo morphology score, an intrauterine singleton pregnancy was achieved after the successful transfer of an optimal embryo with no CNV abnormalities and no paternal or maternal SLC22A5 gene mutations, resulting in the birth of a healthy female baby at 38+3 weeks of gestation. The results of peripheral blood chromosomal karyotyping analysis, CNV detection and SLC22A5 gene c.338G>A and c.760C>T site variant detection of the infant were consistent with those of PGT-M, and no abnormality was found. PGT-M had helped the couple carrying SLC22A5 gene variant to have a healthy offspring and effectively blocked the transmission of PCD in this family.

Analysis of Risk Factors for Anorectal Malformations Combined with Tethered Cord Syndrome and the Impact of Untethering Surgery on Anorectal Function in Related Children: Preliminary Results from a Single-Center Study.

Anorectal malformations (ARMs) are often associated with tethered cord syndrome (TCS). This study focused on children with ARM to explore the risk factors for the co-occurrence of TCS and to investigate the impact of untethering surgery on anorectal function among these children. A retrospective analysis was conducted on 130 children with ARM treated at Fujian Provincial Children's Hospital (Fujian Hospital of Shanghai Children's Medical Center) from May 2021 to January 2024. A total of 114 children were included in the study on the basis of the inclusion and exclusion criteria. The patients were divided into two groups according to the presence of TCS: the ARM group (n = 83) and the ARM+TCS group (n = 31). to explore the risk factors for the co-occurrence of ARM and TCS. All children diagnosed with TCS underwent untethering surgery regardless of symptoms. Anorectal function was compared between the ARM and ARM+TCS groups. In the multivariate analysis, intermediate or high-type ARM increased the risk of children with ARM having TCS, with an OR of 3.572, 95% CI from 1.355 to 9.418, and p = 0.010. Additionally, the presence of other malformations also increased the risk of children with ARM having TCS (p = 0.026). When the ARM+TCS group was compared with the ARM group, children with low-type ARM in the ARM+TCS group exhibited a significant improvement in constipation following untethering surgery (p = 0.043). However, when children with intermediate or high-type ARM were compared, the anorectal function of the children in both groups was comparable. Intermediate or high-type ARM and the presence of other malformations are risk factors for the co-occurrence of TCS in children with ARM. In children with low-type ARM, those with TCS and ARM showed significant improvement in constipation after untethering surgery compared with those with ARM without TCS. We recommend that children with relevant conditions actively undergo untethering surgery.