Translational pediatrics最新文献

{"title":"Sport-related performance anxiety in young athletes: a clinical practice review.","authors":"Katherine T Beenen, Jennifer A Vosters, Dilip R Patel","doi":"10.21037/tp-24-258","DOIUrl":"10.21037/tp-24-258","url":null,"abstract":"<p><p>Performance anxiety is characterized by intense feelings of emotional distress before, during, or after performing in front of others. In pediatric patients who participate in organized, competitive athletics, this can manifest with somatic, cognitive, and behavioral symptoms such as activation of the sympathetic nervous system and avoidance behaviors. Performance anxiety may now be classified as a psychiatric disorder if symptoms have been longstanding and cause significant emotional distress and/or functional impairment. Participation in competitive sports can confer many benefits to pediatric patients, but these benefits may go unrealized if performance anxiety is not addressed and leads to attrition from athletics. This review provides up-to-date information on prevalence and risk factors of performance anxiety in young athletes (generally speaking, school-age children, adolescents, and young adults). The clinical presentation, assessment considerations including differential diagnosis, and several standardized measures of performance anxiety are overviewed. We also review comprehensive management of sports performance anxiety in pediatric populations, with an emphasis on psychological interventions. Presently, cognitive behavioral therapy dominates the literature as an effective treatment for this condition, and special considerations in adapting this intervention to pediatric populations are considered. Recent research in the area of mindfulness as an effective intervention for sports performance anxiety is explored. In addition, careful consideration is given to appropriate pharmacological treatment, including propranolol, hydroxyzine, and benzodiazepines.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 1","pages":"127-138"},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410923","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":"Nomogram construction based on characteristic genes and clinical variables to predict the risk of multiple organ dysfunction syndrome caused by influenza in children.","authors":"Ming Chi, Fei Liu, Haifeng Chi, Ping Liu, Bo Xu, Dawei Zhang","doi":"10.21037/tp-24-386","DOIUrl":"10.21037/tp-24-386","url":null,"abstract":"<p><strong>Background: </strong>Screening for risk factors for the occurrence of multiple organ dysfunction syndrome (MODS) caused by pediatric influenza is an essential approach to improving treatment interventions and stratifying prognosis. This study aimed to select characteristic genes in MODS samples, demonstrate the correlation between characteristic genes and clinical variables, show the changes in expression levels of characteristic genes in the progression of MODS, and establish a predictive prolonged MODS (PM) line chart model.</p><p><strong>Methods: </strong>We downloaded the pediatric influenza blood messenger ribonucleic acid (mRNA) dataset (GSE236877) from the Gene Expression Omnibus (GEO) database. Multiple logistic regression analyses were employed to screen for risk factors and independent risk factors, and to establish nomogram model. The receiver operating characteristic (ROC) curve was used to evaluate the predictive efficacy of variables on disease occurrence, where a larger area under the curve (AUC) indicates better predictive performance. Calibration curves and the Hosmer-Lemeshow goodness-of-fit test were utilized to describe whether the curves exhibited deviation. Decision curve analysis (DCA) was employed to assess the predictive efficacy of the model.</p><p><strong>Results: </strong><i>SLC12A7</i> was an independent risk factor that increased the risk of PM (OR =0.356, P<0.001). <i>GNA15</i> (OR =4.598, P<0.001) and <i>EMP1</i> (OR =2.158, P=0.002) were protective factors that reduced the risk of PM occurrence. These three genes were combined with clinical variables, including age, influenza virus type, and bacterial co-infection, to construct a nomogram model for predicting the risk of MODS in children with influenza. The AUC of the nomogram score was 0.946, which was larger than the AUC of individual genes and clinical variables. Nomogram model can increase the net benefit of patients compared with clinical variables.</p><p><strong>Conclusions: </strong><i>TGFBI, SLC12A7, LY86, HAL, CASP5, RETN, ESPL1, TULP2, DEFB114, EMP1, GNA15, GPAA1</i> were characteristic genes that distinguished between never MODS (NM) and PM samples. <i>SLC12A7</i>, <i>GNA15</i>, and <i>EMP1</i> can serve as independent predictive factors for MODS. A nomogram model based on <i>SLC12A7, GNA15, EMP1</i>, and clinical variables (age, influenza virus type, and bacterial co-infection status) demonstrated better predictive performance for the risk of MODS in children with influenza compared to clinical variables and single genes.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 1","pages":"25-41"},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410905","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":"Role of systemic inflammation response index and prognostic nutritional index in the prediction of moderate-to-severe bronchopulmonary dysplasia in very preterm infants.","authors":"Ning An, Jing Li, Mingxia Li","doi":"10.21037/tp-24-381","DOIUrl":"10.21037/tp-24-381","url":null,"abstract":"<p><strong>Background: </strong>Bronchopulmonary dysplasia (BPD) is a severe chronic lung disease that primarily affects premature infants. BPD usually comes with delayed diagnosis, and the lung injury at the time of confirmed diagnosis is irreversible. The inflammatory response is a crucial pathogenic factor for BPD. The combination of prognostic nutritional index (PNI) and systemic inflammation response index (SIRI) is a comprehensive indicator that can reflect the balance between immune status and host inflammatory response. This study aimed to explore the predictive ability of SIRI and PNI for moderate-to-severe BPD (msBPD) in premature infants.</p><p><strong>Methods: </strong>The research involved infants born before 32 weeks of gestational age (GA). The division of patients resulted in two groups: the control group with no or mild BPD and the msBPD group. Relevant data were collected to compare the differences regarding clinical data; SIRI and PNI were calculated within 24 hours after birth and at the time of diagnosis of BPD [at 36 weeks of postmenstrual age (PMA)]. The ability of SIRI and PNI to predict msBPD was evaluated by logistic regression analysis.</p><p><strong>Results: </strong>A total of 491 infants were included in the study, with 435 infants in the control group and 56 infants in the msBPD group. The msBPD group exhibited lower PNI levels and higher SIRI levels compared to the control group. The area under the curve (AUC) value [95% confidence interval (CI): of SIRI and PNI were 0.599 (0.514-0.685) and 0.588 (0.504-0.672)], and the cut-off values were >1.927 and <34.105, respectively, within 24 hours after birth. The AUC value of SIRI and PNI were 0.602 (0.515-0.689) and 0.647 (0.569-0.725), and the cut-off values were >5.175 and <45.080, respectively, for the diagnosis of BPD at 36 weeks of PMA.</p><p><strong>Conclusions: </strong>SIRI and PNI have a certain predictive and diagnostic values for managing msBPD in premature infants.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 1","pages":"52-60"},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410920","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":"Risk factors and risk prediction model for recurrence in medulloblastoma.","authors":"Ruyu Ai, Qiandong Liang, Guanhua Deng, Mingyao Lai, Qingjun Hu, Shaoqun Li, Minting Ye, Linbo Cai, Juan Li","doi":"10.21037/tp-24-392","DOIUrl":"10.21037/tp-24-392","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;At present, there is a lack of established treatment protocols for recurrent medulloblastoma. The assessment of recurrence risk prior to treatment is of utmost importance in determining the most suitable treatment modality and intensity for medulloblastoma. Consequently, the creation of a predictive model for medulloblastoma recurrence is imperative in aiding clinical decision-making. The objective of this study is to construct an enhanced risk prediction model for relapse in medulloblastoma by integrating molecular subtyping and straightforward immune markers, such as neutrophil-to-lymphocyte ratio (NLR), into a nomogram.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A retrospective analysis was conducted on the clinical data of 273 patients diagnosed with medulloblastoma. The NLR was calculated prior to radiotherapy, and various clinical characteristics including age, gender, molecular subtype, dissemination, and residual lesions after resection were collected. Survival analysis was performed utilizing the Kaplan-Meier method, while Cox regression models were employed to identify independent prognostic factors. Furthermore, a column chart illustrating all independent prognostic factors was generated using R. The nomogram's prognostic predictive ability was evaluated using the Concordance Index (C-index), area under the curve (AUC), and calibration curve.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The median progression-free survival (PFS) for the entire cohort was determined to be 63.8 months. Univariate and multivariate Cox regression analyses were conducted to identify independent prognostic factors that were associated with PFS in patients diagnosed with medulloblastoma. These factors included age, residual tumor volume exceeding 1.5 cm&lt;sup&gt;3&lt;/sup&gt;, NLR exceeding 4.5, dissemination occurring prior radiotherapy, and molecular subtype classified as Group 3. These identified factors were then utilized to construct a column chart. The nomogram C-index for the predicted PFS in the training and validation cohorts was 0.749 and 0.736, respectively. The AUC for predicting the 3-year PFS exhibited satisfactory accuracy in the validation cohort (AUC =0.71). Furthermore, the calibration curve indicated a strong concordance between the predicted and ideal values. Additionally, the Kaplan-Meier curve, based on PFS, demonstrated a statistically significant distinction between the low-risk and high-risk groups as predicted by the nomogram (P&lt;0.001).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Our study revealed that the NLR prior to treatment serves as an autonomous prognostic determinant for the recurrence or metastasis of medulloblastoma subsequent to treatment. By integrating NLR with clinical variables, the utilization of a nomogram demonstrates the capability to anticipate PFS following radiotherapy in medulloblastoma patients. This nomogram exhibits potential in facilitating more accurate risk stratification, thereby guiding the implementation of pers","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 1","pages":"80-91"},"PeriodicalIF":1.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410914","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":"Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.","authors":"Lianqin Mo, Shuhong Xu, Jun Jiang, Antônio da Silva Menezes Júnior, Dong Huang","doi":"10.21037/tp-24-476","DOIUrl":"https://doi.org/10.21037/tp-24-476","url":null,"abstract":"<p><strong>Background: </strong>Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy. The heart is one of the most metabolically active organs in the human body. Metabolic disorders may lead to insufficient myocardial energy production, and unwanted metabolites may be produced, which may cause spontaneous chemical damage in the body. Specific metabolic repair enzymes are required to remove accumulated metabolites. The metabolite repair enzyme NAD(P)HX dehydratase (<i>NAXD</i>) is a key enzyme that combats the accumulation of damaged metabolites. It specifically acts on the S exome of NAD(P)HX, restoring NADHX and NADPHX to the functional cofactors NADH and NADPH, respectively. NAD(P)H plays a central role in many biochemical processes, including key oxidation-reduction reactions related to energy production. Patients with <i>NAXD</i> mutations develop severe systemic multisystem impairment after febrile illness that is mainly characterized by severe psychomotor regression with recurrent skin lesions and death. However, cardiomyopathy caused by this gene mutation has rarely been reported.</p><p><strong>Case description: </strong>This paper reported a patient with a novel <i>NAXD</i> gene compound mutation whose condition deteriorated sharply after febrile illness, causing heart failure, cardiogenic, and ultimately death.</p><p><strong>Conclusions: </strong>This is one of the few cases of metabolic cardiomyopathy caused by a compound heterozygous NAXD mutation in China.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2292-2304"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012439","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":"Diagnostic accuracy of gasdermin D as a biomarker for necrotizing enterocolitis: a single-center diagnostic test study.","authors":"Shan He, Xiao-Qian Zhang, Meng-Ran Fu, Hong-Ying Mi","doi":"10.21037/tp-24-326","DOIUrl":"https://doi.org/10.21037/tp-24-326","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing enterocolitis (NEC) is a devastating gastrointestinal condition mainly affecting premature infants, and gasdermin D (GSDMD) has emerged as a molecule of interest due to its pivotal role in the inflammatory process called pyroptosis in NEC pathogenesis. The aim of this study is to examine the potential of GSDMD and interleukin-1β (IL-1β) as early diagnostic biomarkers for NEC.</p><p><strong>Methods: </strong>We examined 207 infants with clinical symptoms of NEC admitted to our neonatal intensive care unit (NICU) between December 2023 and June 2024. After excluding those with congenital gastrointestinal diseases and other factors, 180 infants were included in the study. Among these, 59 were confirmed to have NEC according to Bell Stage II criteria, and 56 matched controls were selected through propensity score matching (PSM). Blood samples were analyzed for GSDMD expression using quantitative polymerase chain reaction (qPCR) and for IL-1β levels using enzyme-linked immunosorbent assay (ELISA).</p><p><strong>Results: </strong>Patients with NEC exhibited significantly elevated levels of GSDMD (18.46±8.58) and IL-1β (9.05±3.42) compared to controls. Receiver operating characteristic (ROC) curve analysis indicated that GSDMD had a higher predictive value for NEC with an area under the curve (AUC) of 0.83 than IL-1β (AUC 0.77). Clinical symptoms such as fatigue, abdominal distention, and reduced bowel sounds were significantly more common in patients with NEC. Laboratory results showed lower neutrophil and red blood cell counts, higher platelet counts, and increased levels of C-reactive protein (CRP) and procalcitonin (PCT) in patients with NEC.</p><p><strong>Conclusions: </strong>GSDMD and IL-1β can serve as valuable biomarkers for the early diagnosis of NEC, providing insights into the disease's pathogenesis and facilitating improved strategies for early detection and intervention.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2134-2143"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012356","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":"Evaluating concerns for perampanel in the treatment of pediatric Dravet syndrome.","authors":"Saim Mahmood Khan, Kamal Huda Khan, Filzah Imam","doi":"10.21037/tp-24-401","DOIUrl":"https://doi.org/10.21037/tp-24-401","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2314-2315"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012429","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":"Glycoprotein 350-targeted chimeric antigen receptor T-cell therapy for nonneoplastic chronic active Epstein-Barr virus infection: a case report.","authors":"Yandi Liu, Jiaoyang Cai, Tianyi Wang, Jing Wang, Yanjing Tang, Xinyu Wan, Wenjie Li, Benshang Li, Qing Cao","doi":"10.21037/tp-24-292","DOIUrl":"https://doi.org/10.21037/tp-24-292","url":null,"abstract":"<p><strong>Background: </strong>Chronic active Epstein-Barr virus (CAEBV) infection is a rare disease in which the Epstein-Barr virus (EBV) persists and replicates, causing chronic symptoms and fatal complications. The treatment of CAEBV is still evolving. Our case report showed a new therapy for CAEBV.</p><p><strong>Case description: </strong>A 14-year-old boy presented with a 10-month history of recurrent diarrhea, intermittent fever, abdominal pain, distension, dizziness, and fatigue. Physical examination findings included severe malnutrition and hepatosplenomegaly. The local hospital's test results showed that the load of EBV DNA in peripheral blood was 5.99×10⁶ copies/mL. Despite treatment with acyclovir, chemotherapy, and supportive care, the symptoms persisted. We determined the lymphocyte subtypes of EBV infection by fluorescence quantitative polymerase chain reaction and the expression of EBV envelope glycoprotein 350 (gp350) in peripheral blood lymphocytes. EBV not only infects B cells but also T and NK cells. According to the clinical manifestations, elevated EBV DNA levels, and positive EBV-encoded small RNA (EBER) status, the patient was diagnosed with CAEBV infection. The patient received a conditioning regimen of fludarabine and cyclophosphamide and an intravenous infusion of gp350-targeted chimeric antigen receptor T (CAR T) cells. After infusion, the patient developed grade I cytokine release syndrome (CRS) and was discharged 10 days later. During the follow-up, the EBV-DNA count remained undetectable.</p><p><strong>Conclusions: </strong>Our case report showed that CAR T-cell therapy is relatively safe and effective for treating CAEBV in children, with milder CRS compared to that in malignant tumors. However, a greater number of cases are needed to further evaluate the efficacy and safety.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2305-2310"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012433","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":"Pain management after pediatric minimally invasive repair of pectus excavatum: a narrative review.","authors":"Megan Z Chiu, Raissa Li, Anjali Koka, Farokh R Demehri","doi":"10.21037/tp-24-339","DOIUrl":"10.21037/tp-24-339","url":null,"abstract":"<p><strong>Background and objective: </strong>Pectus excavatum is a common congenital chest wall abnormality characterized by a concave appearance of the chest, and minimally invasive repair of pectus excavatum (MIRPE) is the surgical treatment of choice. A rapidly growing field of research is pain management in children undergoing MIRPE, with many shifts in practice occurring over the last decade. The primary objectives of this narrative review are to describe current methods of perioperative pain management and the development of enhanced recovery after surgery (ERAS) to improve the experience of patients undergoing MIRPE.</p><p><strong>Methods: </strong>Recent literature was found using the PubMed database using combinations of keywords: pectus excavatum, pediatric, pain management, minimally invasive repair of pectus excavatum (MIRPE), and enhanced recovery after surgery (ERAS). Literature search was conducted by the authorship team and an independent, certified librarian. Articles published in English from 2010-2024 were the focus of our review; however, older literature was included when appropriate.</p><p><strong>Key content and findings: </strong>Perioperative pain management for patients undergoing MIRPE continues to evolve and improve patient outcomes. While evidence supports the use of more traditional analgesia, such as opioid-based or epidural analgesia, it also supports the trend toward contemporary multimodal pain control via pre-, intra-, and post-operative strategies including opioid-sparing analgesics, intercostal nerve cryoablation (INC), intercostal nerve blocks (INBs), and single or continuous infusion regional anesthesia techniques.</p><p><strong>Conclusions: </strong>Patients undergoing surgical repair of pectus excavatum benefit from the use of contemporary pain control techniques discussed in this review, with a growing body of literature supporting the use of INC, regional pain blocks and multimodal analgesia. Additionally, ERAS pathways and institutional protocols are discussed that are currently transforming postoperative MIRPE pain management and are being implemented widely.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2267-2281"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012448","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 and genetic characteristics of patients with Alagille syndrome in China: identification of six novel <i>JAG1</i> and <i>NOTCH2</i> mutations.","authors":"Lingli Chen, Jie Chen, Jingan Lou, Jindan Yu","doi":"10.21037/tp-24-301","DOIUrl":"https://doi.org/10.21037/tp-24-301","url":null,"abstract":"<p><strong>Background: </strong>Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.</p><p><strong>Methods: </strong>From August 2016 to August 2022, 14 children with ALGS were enrolled in this retrospective study. Clinical and related data were obtained from medical records.</p><p><strong>Results: </strong>Among the 14 patients, 11 were males and 3 were females. The age of first manifestation of liver disease mean (Q1, Q3) was 0.4 (0.1, 37.0) months, and the age of diagnosis mean (Q1, Q3) was 5.6 (2.4, 48.5) months. Cholestasis was seen in 14 patients, cardiac defects in eight, characteristic facial features in 11, skeletal abnormalities in six, and renal abnormality in one. Among eight patients who underwent ophthalmological examination, posterior embryotoxon was seen in two. We identified 12 different <i>JAG1</i> gene mutations and two different <i>NOTCH2</i> gene variations. Among the mutations detected, six were novel, including c.2849_2850del (p.S950*), c.35_45delGCCCCCTAAGC (p.R12Pfs*57), c.1860delC (p.F621Sfs*122), and c.1293_1294insTAGTAGACA (p.A432*) in <i>JAG1</i>, and c.6040_6041 del (p.L2014Vfs*10) and c.1915+1G>T (splicing) in <i>NOTCH2</i>. The follow-up time mean (Q1, Q3) was 48.5 (11.5, 69.0) months; four patients had delayed growth, eight had pruritus, two had xanthomas, seven had elevated bilirubin, and 13 had elevated transaminase. All patients were stable after medical treatment.</p><p><strong>Conclusions: </strong>ALGS presents a variety of clinical manifestations. Some patients may be misdiagnosed with biliary atresia due to bile duct proliferation in liver biopsies along with biochemical abnormalities. Genetic testing is helpful for early diagnosis. <i>JAG1</i> and <i>NOTCH2</i> gene mutant spectra are abundant and there are many novel mutations in Chinese children with ALGS.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"13 12","pages":"2144-2154"},"PeriodicalIF":1.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012348","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}