Translational pediatrics最新文献

{"title":"Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation.","authors":"Qi Yu, Junxian Chen, Haibo Li, Jiangyang Xue, Cuiju Meng, Haifa Hong, Wenjun Qin, Changshui Chen","doi":"10.21037/tp-2025-271","DOIUrl":"10.21037/tp-2025-271","url":null,"abstract":"<p><strong>Background: </strong>Congenital pulmonary airway malformation (CPAM) is a rare lung abnormality characterized by the formation of cystic or solid masses in lung tissues. To date, the genetic etiology of CPAM has not been well described. The objective of this study is to explore the potential genetic etiology of CPAM through trio-based whole exome sequencing (WES).</p><p><strong>Methods: </strong>We performed WES on 13 fetuses diagnosed with CPAM and their parents. The filtered variants were further analyzed using bioinformatic prediction tools and enrichment analyses.</p><p><strong>Results: </strong>A total of 23 rare variants were identified in 11 fetuses with CPAM, including 3 homozygous mutations and 19 heterozygous mutations. <i>EYA1</i>, <i>FAP</i>, <i>THAP4</i> and <i>ALDH1B1</i>, all with extremely low population frequencies, were predicted to be deleterious. Notably, mutations in the mucin genes (<i>MUC3A</i> and <i>MUC6</i>) were identified in four cases, suggesting potential impairment of epithelial barrier function. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses revealed significant involvement in embryonic development, epigenetic regulation, cellular morphogenesis and immunometabolism-related pathways, highlighting potential immune-metabolic crosstalk in CPAM.</p><p><strong>Conclusions: </strong>In this study, we provide novel insights into the genetic architecture of CPAM and revealed a multifactorial etiology involving developmental, metabolic, and immune-related mechanisms, which can provide a foundation for future functional studies and genetic counseling in CPAM-affected families.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1888-1895"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and feasibility of robot-assisted laparoscopic telesurgery in pediatric surgery: a case series.","authors":"Jiankun Liang, Huifang Ren, Xiaopan Chang, Fuyu You, Shenghai Qin, Qing Yi, Xiaoxiong Liang, Liuqing Liao, Lifen Yang, Yu Ouyang, Zhe Wen","doi":"10.21037/tp-2025-309","DOIUrl":"10.21037/tp-2025-309","url":null,"abstract":"<p><strong>Background: </strong>Despite an escalating number of robot models that have facilitated remote surgery since 2008, the utilization of robotic remote surgery in pediatric surgery remains unreported. This study aims to evaluate the feasibility of applying the single-port robotic system (SHURUI SR-ENS-600) in pediatric robot-assisted laparoscopic remote surgery.</p><p><strong>Case description: </strong>Between October 2024 and February 2025, an experienced surgeon situated at tertiary medical centers in Guangzhou and Liuzhou employed the SHURUI Endoscopic Surgical Robotic System to perform remote robot-assisted laparoscopic appendectomy (RA) and robot-assisted laparoscopic choledochal cyst excision (RC) in four pediatric patients. Patients meeting the enrollment criteria underwent robot-assisted laparoscopic telesurgery (RLT) using SHURUI system. Trained assistants were positioned on the patients' side to avoid possible complications. Two cases of RA and two of RC were conducted, involving one male and three females, with a median age of 7 years (range, 4-11 years). All procedures were completed using telesurgery alone, and no conversions were recorded. The surgeon and the patient were separated by a distance of 512 km, with a mean round-trip latency of 28.50 ms (range, 25-33 ms). The median total operative time was 266 min (range, 90-481 min), and the median remote control duration was 171 min (range, 55-308 min). There were no complications nor mortalities observed in the perioperative period. All patients were routinely followed up without loss and the median follow-up time was 3.5 months (range, 2-6 months).</p><p><strong>Conclusions: </strong>The results suggest that RLT is practicable and secure under the supervision of an experienced surgery team. Further research with larger sample sizes is necessary to explore the application of RLT in pediatric surgery.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1982-1990"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early rejection management in a heart-lung transplant adolescent under tubeless spontaneous ventilation anesthesia: a case report.","authors":"Ying Chen, Minting Kuang, Meiqi Lai, Guolong Zhang, Jiahui Yu, Daqun Wu, Chaoping Wang, Chao Yang, Guilin Peng, Liang Ruan, Danxia Huang","doi":"10.21037/tp-2025-253","DOIUrl":"10.21037/tp-2025-253","url":null,"abstract":"<p><strong>Background: </strong>Heart-lung transplantation is a critical intervention for pediatric end-stage cardiopulmonary diseases, including severe pulmonary hypertension. Post-transplant rejection, predominantly pulmonary, poses significant challenges. Tubeless spontaneous ventilation is an emerging anesthetic modality that improves prognosis by minimizing the risk of mechanical ventilation.</p><p><strong>Case description: </strong>This case report details a 15-year-old male patient who met the indications for combined heart-lung transplantation due to severe pulmonary hypertension in combination with right heart failure. The patient underwent combined heart-lung transplantation under tubeless spontaneous ventilation anesthesia. On postoperative day 6, the patient was observed to have early signs of pulmonary rejection, which was confirmed by testing for non-human leukocyte antigen antibodies. A tailored immunosuppressive regimen, including mycophenolate mofetil, methylprednisolone, and tacrolimus, was initiated. The patient also received antimicrobial treatment, along with nutritional support. On postoperative day 15, chylothorax was diagnosed, which was managed through fasting and modification of antifungal therapy due to hepatic dysfunction. Furthermore, exercise rehabilitation constitutes a significant component of the treatment regimen that patients receive. A phased rehabilitation program is a structured, multifaceted approach to recovery that encompasses all aspects of the patient's hospitalization. It incorporates active and passive physical activities, postural and endurance training, respiratory muscle training, and other exercises, all meticulously designed to address the patient's specific needs and facilitate their recovery. The patient exhibited a marked recovery in clinical symptoms by day 23 and was subsequently discharged from the hospital.</p><p><strong>Conclusions: </strong>Tubeless anesthesia has been demonstrated to expedite postoperative recovery and mitigate pulmonary complications. Early rejection detection, tailored immunosuppression, and multidisciplinary coordination were instrumental in overcoming challenges. This case underscores the potential to reduce morbidity and highlights integrative strategies for optimizing transplant outcomes in children, emphasizing personalized care and vigilant monitoring.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"2047-2056"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-life data on the efficacy and safety of letermovir for cytomegalovirus prophylaxis in high-risk pediatric patients: a single-center analysis.","authors":"Meng Zhang, Ningning Chen, Yanhui Luo, Chenguang Jia, Jie Zheng, Lixiao Cai, Pan Zhang, Yuanfang Jing, Wei Yang, Maoquan Qin, Guanghua Zhu, Jun Yang","doi":"10.21037/tp-2025-241","DOIUrl":"10.21037/tp-2025-241","url":null,"abstract":"<p><strong>Background: </strong>Letermovir (LET) is approved for the prophylaxis of cytomegalovirus (CMV) infection and disease in adult hematopoietic stem cell transplantation (HSCT) patients up to day 100. The use of LET in the pediatric HSCT population lacks extensive real-world research, especially for high-risk pediatric patients with CMV reactivation. The aim of our study was retrospectively analyzed the efficacy and safety of LET in high-risk pediatric patients with CMV activation, and conducted a preliminary exploration of its duration of use.</p><p><strong>Methods: </strong>This was a single-center, retrospective study. A total of 123 patients under 18 years of age who were at high risk of CMV reactivation were included, with 61 of them receiving LET for prophylaxis. The median duration was 100 days (ranging from 52 to 298 days). The primary endpoint was the proportion of patients with clinically significant CMV infection (CsCMVi) at 24 weeks post-transplantation. The secondary endpoints were the proportion of patients with CsCMVi before week 14 and the timing of CMV infection. Additionally, we also assessed related adverse reactions.</p><p><strong>Results: </strong>The proportion of CMV reactivation at 24 weeks post-transplantation in the LET group was significantly lower than that in the control group (8.20% <i>vs.</i> 43.55%, P<0.001). The secondary endpoint was the proportion of CMV reactivation in the LET group and it was also significantly lower than that of the control group at week 14 (6.56% <i>vs.</i> 41.94%, P<0.001). The proportion of CMV reactivation at 24 weeks post-transplantation in patients who used LET for more than 100 days was significantly lower than that in the control group (5.89% <i>vs.</i> 11.10%, P=0.009).</p><p><strong>Conclusions: </strong>LET can effectively prevent CMV reactivation in patients under 18 years of age and demonstrates good safety. For pediatric patients at high risk of CMV reactivation, extending the duration of prophylaxis beyond 100 days may be beneficial.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1866-1872"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integration of urine retinol-binding protein and genetic markers for early prediction of tacrolimus nephrotoxicity using machine learning.","authors":"Yousi Miao, Xiujuan Chen, Ping Xie, Yemei Liang, Yuanyi Wei, Houliang Deng, Qiongbo Huang, Haojie Qiu, Huiyi Li, Shi Zhou, Huiying Liang, Min Huang, Jiali Li, Xia Gao, Xiaolan Mo","doi":"10.21037/tp-2025-127","DOIUrl":"10.21037/tp-2025-127","url":null,"abstract":"<p><strong>Background: </strong>The use of tacrolimus (TAC) in clinical settings is hindered by its nephrotoxic effects, which can vary significantly among individuals. Urine retinol-binding protein (RP), as a novel biochemical marker, is a potential indicator for early detection of renal tubular injury caused by TAC. The objective was to develop and validate a machine learning model that combines clinical features with genetic markers for predicting TAC nephrotoxicity in children with nephrotic syndrome (NS).</p><p><strong>Methods: </strong>A retrospective cohort of 203 children diagnosed with NS who were admitted between June 2013 and December 2018 was used for model development, while 12 children were prospectively recruited for external validation. The model incorporated 38 clinical features and 80 genetic variables, with changes in urine RP levels pre- and post-TAC administration indicating renal tubular toxicity. Five machine learning algorithms were employed: Extra Random Trees (ET), Gradient Boosting Decision Tree (GBDT), random forests (RF), and eXtreme Gradient Boosting (XGBoost), and logistic regression (LR).</p><p><strong>Results: </strong>The LR model, including six genetic markers (<i>CYP3A5</i>*3 rs776746_*3/*3, <i>NFATC1</i> rs1660144_AA, <i>NFKB1</i> rs230526_AG, <i>NFKBIA</i> rs696_TC, <i>CD2AP</i> rs12664637_CT and <i>PLCE1</i> rs2274223_AG), exhibited the best performance with a sensitivity of 78.6%, specificity of 63.8%, accuracy of 67.2%, and area under the curve (AUC) of 76.1%.</p><p><strong>Conclusions: </strong>By employing RP as a marker of renal toxicity, we established and validated the renal tubular toxicity prediction model for the use of TAC using machine learning incorporating genetic factors of NS patients. This model allows physicians to evaluate the risk of nephrotoxic effects and adjust treatment plans accordingly to prevent kidney injury.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1873-1887"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental readiness for discharge in day surgery children: current status and associated factors.","authors":"Huiling Wang, Qinqin Ding, Ting Chen","doi":"10.21037/tp-2025-265","DOIUrl":"10.21037/tp-2025-265","url":null,"abstract":"<p><strong>Background: </strong>Enhancing parental readiness for hospital discharge is critical for optimizing postoperative outcomes in pediatric day surgery. However, current evidence regarding the discharge preparedness of parents in this context remains insufficient. This study aimed to assess the status of parental readiness for discharge of day surgery children and identify its key influencing factors.</p><p><strong>Methods: </strong>Parents of the day surgery children at our hospital from February 2024 to February 2025 were included in this study. We utilized the Discharge Readiness Scale to assess the study participants, examining their discharge readiness scores and identifying associated influencing factors.</p><p><strong>Results: </strong>A total of 252 parents of day surgery children were included. The overall discharge readiness score among these parents was 235.18±30.66. Correlation analysis revealed significant associations between parental discharge readiness and several factors: the child's previous history of having day surgery (r=0.590), the parent's educational level (r=0.632), place of residence (r=0.592), and personal monthly income (r=0.606) (all P<0.05). Multiple linear regression found that the child's previous history of having day surgery, the parent's educational level, place of residence, and personal monthly income were influencing factors of parental discharge readiness in day surgery children (all P<0.05).</p><p><strong>Conclusions: </strong>The discharge readiness of parents of day surgery children is at a moderate level. Healthcare providers should implement targeted pre-discharge guidance and continuity of care to enhance parental confidence and improve their discharge readiness.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1827-1835"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiological and clinical features of neonatal parainfluenza virus infection: a retrospective study.","authors":"Yiyue Wang, Tingting Yu, Qin Li, Lianghua Lu","doi":"10.21037/tp-2025-212","DOIUrl":"10.21037/tp-2025-212","url":null,"abstract":"<p><strong>Background: </strong>Parainfluenza virus (PIV) is an important pathogen causing lower respiratory tract infections (LRIs) in children, and its pathogenicity is second only to respiratory syncytial virus (RSV). The purpose of this study was to explore the epidemiological characteristics, clinical manifestations, and related risk factors of PIV infection in hospitalized newborns, and to provide evidence for clinical diagnosis, treatment, and prevention.</p><p><strong>Methods: </strong>The cases admitted to Children's Hospital of Soochow University from 2016 to 2023 due to LRIs were included in this retrospective study. Nasopharyngeal aspirates (NPA) were collected and four common respiratory viruses (<i>Mycoplasma pneumonia</i>, influenza B virus, RSV, and adenovirus), including PIV, were detected by direct immunofluorescence. To analyze the epidemiological characteristics, clinical manifestations, laboratory results, and related risk factors of PIV infection.</p><p><strong>Results: </strong>PIV infection rate was 2.39% (159/6,662) in hospitalized newborns. Among those infected with PIV, 24 cases (15.1%) were mixed infections, with RSV being the most common co-infection (45.8%, 11/24). The infection rate of PIV was highest in 4-week-old newborns (3.31%, 82/2,474). PIV infection exhibited seasonality, peaking from November to January. Compared to the RSV infection group, newborns in the PIV infection group had a significantly higher incidence of fever (P<0.05), milk rejection (P<0.05), increased white blood cell count (P<0.05), increased C-reactive protein (P<0.05), increased alanine aminotransferase (ALT) (P<0.05), increased creatine kinase isoenzyme (CK-MB) (P<0.05), and abnormal chest X-ray (P<0.05). Logistic regression analysis revealed that low birth weight and potential diseases (congenital heart disease, bronchopulmonary dysplasia, Down syndrome) were significant risk factors for neonatal intensive care unit (NICU) admission (P<0.05).</p><p><strong>Conclusions: </strong>PIV is an important pathogen of LRI in hospitalized newborns. Neonates infected with PIV are more likely to have severe manifestations. Low birth weight and potential diseases are the risk factors of PIV infection leading to severe disease.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1797-1805"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of Graves' disease combined with pseudohypoaldosteronism type IID in a child.","authors":"Junlan Yao, Xiangji Li, Wei Lu","doi":"10.21037/tp-2025-500","DOIUrl":"10.21037/tp-2025-500","url":null,"abstract":"<p><strong>Background: </strong>Graves' disease and pseudohypoaldosteronism type IID (PHA IID) are rare pediatric endocrine diseases with different etiologies and pathological features. Graves' disease is caused by autoimmune thyroid stimulation, while PHA IID is an inherited renal tubular disorder characterized by hyperkalemia and hypertension due to mutations in the <i>KLHL3</i> gene. A rare pediatric case of concurrent Graves' disease and PHA IID with a <i>KLHL3</i> gene mutation is reported. The clinical manifestations, diagnostic process, and treatment plans for the two conditions are discussed to provide a reference for the management of similar cases.</p><p><strong>Case description: </strong>On the initial hospitalization, the patient presented with sudden onset of altered consciousness, tachycardia, and electrolyte disturbances, including hyperkalemia and metabolic acidosis. Following thyroid function tests and thyroid ultrasonography, a diagnosis of Graves' disease was made. Antithyroid treatment with methimazole and propranolol was administered, leading to an improvement in the blood gas and biochemical parameters. Although thyroid function was controlled, the patient's hyperkalemia, hyperchloremia, metabolic acidosis, and hypertension remained refractory to treatment. Further genetic testing revealed a <i>KLHL3</i> gene mutation, confirming the diagnosis of PHA IID. After treatment with hydrochlorothiazide (10 mg), the patient's electrolyte imbalances and blood pressure normalized.</p><p><strong>Conclusions: </strong>The simultaneous occurrence of Graves' disease and PHA IID is rare in children. Clinicians should be alert to the possibility of such comorbidities in clinical practice. For patients with persistent hyperkalemia, particularly those with concomitant metabolic acidosis and hyperchloremia, early genetic testing can enhance diagnostic efficiency and optimize treatment strategies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"2066-2074"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of a lipid metabolism-related gene signature for ulcerative colitis.","authors":"Linqing Yuan, Kaiyue Peng","doi":"10.21037/tp-2025-161","DOIUrl":"10.21037/tp-2025-161","url":null,"abstract":"<p><strong>Background: </strong>Lipid metabolism is a critical factor in the inflammatory response and development of ulcerative colitis (UC). However, the diagnosis and treatment of UC remain obscure. The molecular mechanisms underlying UC remain unclear. This study aimed to identify efficacious biomarkers for the diagnosis and treatment of UC, and extend understandings of the pivotal molecular mechanisms related to lipid metabolism in the pathogenesis of UC.</p><p><strong>Methods: </strong>Datasets relating to UC were obtained from the Gene Expression Omnibus (GEO) database. Key lipid metabolism-related genes (LMGs) were identified by differential expression analysis, weighted gene co-expression network analysis (WGCNA), and machine learning. Receiver operating characteristic (ROC) curves were used to assess the diagnostic performance of the LMGs. The cell infiltration by estimation of stromal and immune cells in cancer tissues (CIBERSORT) and xCell algorithms were used to examine immune infiltration. Single-cell RNA sequencing (scRNA-seq) was used to characterize the LMGs.</p><p><strong>Results: </strong>A total of 16 differentially expressed LMGs were identified from the tissue and blood samples of UC patients and healthy controls. The WGCNA and correlation analysis of the tumor microenvironments identified seven LMGs (i.e., <i>MTMR2</i>, <i>ABCD3</i>, <i>IMPA1</i>, <i>NR3C2</i>, <i>ETNK1</i>, <i>ACADSB</i>, and <i>MINPP1</i>). Subsequently, the machine learning and ROC curve analyses identified five hub LMGs (i.e., <i>NR3C2</i>, <i>ABCD3</i>, <i>CD38</i>, <i>ALOX15</i>, and <i>PIGN</i>). The scRNA-seq analysis validated the expression of the hub LMGs and revealed significant increases in the T cells and inflammatory cells in UC.</p><p><strong>Conclusions: </strong>Our results suggest that the LMG signature may serve as a novel diagnostic tool for identifying patients with UC. Our machine-learning model may contribute to future research on the formulation of potential therapeutic strategies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1770-1786"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.","authors":"Ziying Wu, Xi Yin, Xiuzhen Li, Huifen Mei, Junzan Li, Zien Huang, Jing Cheng, Peng Yi, Wen Zhang, Aijing Xu","doi":"10.21037/tp-2025-219","DOIUrl":"10.21037/tp-2025-219","url":null,"abstract":"<p><strong>Background: </strong>Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by various clinical features. The purpose of this study was to investigate the molecular diagnostic and clinical features of BWS in Chinese pediatric patients.</p><p><strong>Methods: </strong>This retrospective study reviewed the clinical data of 24 pediatric patients diagnosed with BWS at the Guangzhou Women and Children's Medical Center, Guangzhou Medical University from 2014 to 2024. To assess genetic abnormalities, molecular analysis was performed using array comparative genomic hybridization (Array-CGH) as well as methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).</p><p><strong>Results: </strong>With a range of fetal period to four years, the median age at diagnosis was nine months. Cardinal features were macroglossia (95.8%), lateralized overgrowth (54.2%), and omphalocele (25%). Suggestive features included transient hypoglycemia (20.8%), hepatomegaly or nephromegaly (8.3%), and facial port-wine stain or ear-lobe creases (8.3%). Molecular analysis revealed that 57.9% of patients had methylation abnormalities in the imprinting control region 2 (IC2), while 5.3% had abnormalities in imprinting control region 1 (IC1), and 36.8% diagnosed with uniparental disomy (UPD). One patient also exhibited a rare homozygous mutation in the <i>DUOX2</i> gene and a heterozygous mutation in the <i>LDLR</i> gene.</p><p><strong>Conclusions: </strong>This study investigates the significance of early genetic testing in the clinical and molecular features of pediatric BWS demonstrating that MLPA exhibits its higher sensitivity and specificity for genetic testing in these patients. Furthermore, the findings identified a high prevalence of UPD in the southern Chinese population and highlighted the diagnostic role of chromosomal microarray analysis (CMA) in detecting UPD-related phenotypes in patients with BWS.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 8","pages":"1761-1769"},"PeriodicalIF":1.7,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}