Translational pediatrics最新文献

{"title":"Retrospective analysis of laparoscopic management for pediatric complicated appendicitis with concurrent inguinal hernia at a tertiary center.","authors":"Shuan-Ling Li, Zong-Han Li, Fang-Nan Xie, Yi-Yuan Liang, Xian-Ling Li, Liu-Ming Huang","doi":"10.21037/tp-2024-541","DOIUrl":"10.21037/tp-2024-541","url":null,"abstract":"<p><strong>Background: </strong>The concurrent surgical treatment of acute appendicitis and inguinal hernia in pediatric patients, particularly in the presence of severe intra-abdominal infections, remains a topic of debate. The aim of this study was to assess the safety and efficacy of simultaneous laparoscopic surgery for complicated appendicitis combined with inguinal hernia in children.</p><p><strong>Methods: </strong>A retrospective review was conducted on pediatric patients with complicated appendicitis associated with concurrent inguinal hernia treated between January 2016 to December 2022 at a tertiary care center. Patients were divided into two groups: those who underwent simultaneous hernia repair (simultaneous group) and those who received staged procedures (two-stage group). Demographic data, perioperative findings, and follow-up outcomes were analyzed.</p><p><strong>Results: </strong>A total of 40 patients were included in this analysis, with 29 patients in the simultaneous group and 11 in the two-stage group. No significant differences were observed between the two groups, except for a higher proportion of bilateral inguinal hernia in the simultaneous group. Operative time was longer in the simultaneous group compared to the two-stage group (specifically for primary appendectomy), though this difference was not statistically significant [84.0 (70.0; 105) <i>vs.</i> 68.0 (57.5; 102) minutes, P=0.32]. The simultaneous group experienced a shorter hospital stay and a reduced duration of postoperative antibiotic use compared to the two-stage group [5.00 (4.00; 6.00) <i>vs.</i> 6.00 (5.00; 9.00) days, P=0.056; 4.00 (3.00; 6.00) <i>vs.</i> 5.00 (4.75; 8.00) days, P=0.04]. Over a follow-up period ranging from 11 to 66 months, postoperative complications were observed in only one patient from the two-stage group, with no recurrence of inguinal hernia in the simultaneous group.</p><p><strong>Conclusions: </strong>Simultaneous laparoscopic treatment of acute appendicitis and inguinal hernia in pediatric patients appears to be a feasible, safe, and effective approach, even in cases involving complicated appendicitis with significant contamination.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"639-645"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094787","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":"High expression of myeloperoxidase may be related to the occurrence of urethral fistula in hypospadias patients after tubularized-incised plate urethroplasty repair.","authors":"Xiaoqing Wang, Yu Qu, Guangyu Zhu, Wei Liu","doi":"10.21037/tp-2024-519","DOIUrl":"10.21037/tp-2024-519","url":null,"abstract":"<p><strong>Background: </strong>Surgical treatment is currently the only treatment for hypospadias, but the incidence of postoperative complications is still high, among which urethral fistula is the most common one. So, the aim of this study was to investigate the influencing factors of urethral fistula in hypospadias patients after tubularized incised plate (TIP) urethroplasty repair.</p><p><strong>Methods: </strong>Proteomics analysis was performed to detect differences expression in proteins between groups (hypospadias without complications, hypospadias with urethral fistular). Multimodal verification of myeloperoxidase (MPO) expression was conducted through Immunohistochemistry, immunofluorescence, and western blotting. After collection of 21 cases of children with hypospadias from June 2018 to June 2020, the analysis was performed to investigate the association between MPO levels and clinical characteristics.</p><p><strong>Results: </strong>The expression of MPO in foreskin of hypospadias with postoperative complications, was significantly higher than that of the foreskin tissue of the uncomplicated group. The results of immunohistochemistry analysis of 21 children showed that children with high MPO expression were more likely to develop urethral fistula after surgery.</p><p><strong>Conclusions: </strong>Our findings revealed that high expression of MPO may be closely related to the occurrence of urethral fistula in hypospadias after TIP urethroplasty repair.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"571-581"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094766","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":"Hypoplastic left heart syndrome-a scoping review.","authors":"Consolato M Sergi","doi":"10.21037/tp-24-367","DOIUrl":"10.21037/tp-24-367","url":null,"abstract":"<p><strong>Background: </strong>An estimated 3% of all newborns with congenital heart disease develop hypoplastic left heart syndrome (HLHS), making it a prominent cause of mortality in this group if surgical procedures or a heart transplant are not implemented. While compelling evidence supports a genetic element, identifying a particular genetic cause is limited to a subgroup of patients, indicating a complex and multifaceted origin for this condition. The objective of this scientific contribution was to identify, synthesize, and analyze the scientific knowledge produced regarding the implications of researching on HLHS in a scoping review.</p><p><strong>Methods: </strong>The search for articles was diligently conducted between January 1, 2019 and February 20, 2025 on the PubMed/MEDLINE, Scopus, Web of Science, and Cochrane databases. This search was assiduously complemented by a gray search. It included internet browsers (e.g., Google) and medical textbooks. The following research question steered our study: \"What are the basic data on the etiology and pathogenesis on HLHS?\" All stages of the selection process were iwis carried out by the single author.</p><p><strong>Results: </strong>Of the 1,364 articles found, 75 were included in the sample for analysis, which was implemented with an additional 25 articles from references and gray literature. The studies analyzed indicated that HLHS is one of the most complex congenital heart defects, characterized by small or hypoplastic left-sided heart structures and a dominant right ventricle. The Fontan circulation and the phased surgical technique that it entails have been the cornerstones of HLHS patient care since its debut some 40 years ago. Although there is considerable genetic evidence for HLHS, the exact genetic cause of this cardiologic entity is still not well known. HLHS remains genetically heterogeneous. There is evidence of incomplete penetrance for the C57Bl/6J-b2b635Clo/J (<i>Ohia</i>) mice.</p><p><strong>Conclusions: </strong>HLHS is a complex and complicate congenital heart disease, which requires further investigation. In this article, I further explore the involvement of the endocardium in the progression of ventricular hypoplasia, therefore offering a potential explanation for the morphological alterations observed in the disease as a result of compromised blood flow to the developing ventricle. These findings may support a new paradigm for the complicated genetics of this congenital heart defect and there is some evidence that HLHS can originate genetically in a combinatorial approach.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"700-717"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094773","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":"Statin-associated rhabdomyolysis: an exemplary case report and a mini-review of therapeutic management.","authors":"Felix Sebastian Oberhoffer, Eva Rieger, Sara Schenk, Julia Hauer, Ruth Chmiel, Maximilian Steinhauser","doi":"10.21037/tp-2025-30","DOIUrl":"10.21037/tp-2025-30","url":null,"abstract":"<p><strong>Background: </strong>Familial hypercholesterolemia (FH) is a genetic disorder that significantly increases low-density lipoprotein cholesterol (LDL-C) levels. Statins are commonly prescribed to minors to improve overall cardiovascular outcomes. Despite their well-documented efficacy in lowering lipid levels, statins can cause adverse side effects, including myopathy and, in rare cases, rhabdomyolysis.</p><p><strong>Case description: </strong>A 17-year-old male adolescent presented with acute muscle pain in both arms. The patient had a history of FH and was undergoing treatment with rosuvastatin. Laboratory results revealed a marked elevation in creatine kinase (CK), myoglobin, cystatin C, and hepatic enzymes. Urinalysis did not show any abnormalities. Given the suspicion of statin-associated rhabdomyolysis, rosuvastatin was promptly discontinued. Further, the patient was administered intravenous fluids (3 L/m²/day) for renal protection. Nine days after admission, levels of CK, myoglobin, and creatinine returned to normal. Hepatic enzymes and cystatin C remained elevated. The patient was advised to discontinue statin therapy for a total of 6 weeks. For further treatment, the patient was referred to a pediatric lipid clinic.</p><p><strong>Conclusions: </strong>While the use of statins is generally safe, rare side effects including rhabdomyolysis must be detected and therapy promptly initiated to prevent long-term health effects. Patients that experienced statin-associated rhabdomyolysis should be monitored closely and referred to a pediatric lipid clinic for further treatment.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"763-768"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094809","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":"Coexistence of gastroesophageal reflux and eosinophilic esophagitis in a single patient: case report.","authors":"Simon S Rabinowitz, Shagun Sharma, Meredith Pittman","doi":"10.21037/tp-2024-620","DOIUrl":"10.21037/tp-2024-620","url":null,"abstract":"<p><strong>Background: </strong>Gastroesophageal reflux (GER) and eosinophilic esophagitis (EoE) are the two most commonly encountered esophageal diseases. While guidelines and clinical practice have generally considered them to be two distinct conditions with their own diagnostic criteria, both incorporate acid mediated breakdown in the esophageal epithelial barrier. The contribution of acid reflux to the pathogenesis of EoE has evolved over time. While published guidelines and multiple articles have emphasized the distinguishing features defining each, there exist clinical instances in which the two have overlapping features.</p><p><strong>Case description: </strong>An adolescent patient is described with clinical and epidemiological features associated with both GER (hiatal hernia, distal esophageal erosions, and a family history of significant GER) and EoE (a strong history of atopy, and endoscopic and histologic findings specific to EoE). At different times, he had endoscopic and histologic features that would satisfy the criteria for each of these two entities.</p><p><strong>Conclusions: </strong>While acid injury is the defining characteristic of GER, it also often plays a role in EoE, as reflected in the recognition of proton pump inhibitor responsive esophageal eosinophilia being a subset of EoE. A clinical situation is described emphasizing the need to recognize and effectively treat both conditions to obtain the best patient outcome.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"740-747"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095042","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":"Current progress and future prospects of machine learning in the diagnosis of neonatal encephalopathy: a narrative review.","authors":"Yu-Fen Huang, Zhong-Quan Jiang, Lei Feng, Chao Song","doi":"10.21037/tp-24-425","DOIUrl":"10.21037/tp-24-425","url":null,"abstract":"<p><strong>Background and objective: </strong>Neonatal encephalopathy (NE) can cause permanent neurological damage in newborns. NE greatly increases the burden of care placed on families. It also places a tremendous economic strain on the social health system. Currently, NE is mostly diagnosed by imaging and blood gas analysis. However, current diagnostic methods mostly lag behind the disease, leading to a lag in medical interventions for NE. In recent years, machine learning (ML) techniques have been applied to medicine, including in the early diagnosis and screening of diseases. This study aimed to provide an overview of existing research on the application of ML to NE and to offer insights for future investigations.</p><p><strong>Methods: </strong>A full library search in fuzzy matching mode was performed to retrieve articles from the Web of Science database published between January 1, 2008, and August 31, 2024 using the following search strategy: (neonatal encephalopathy * machine learning) (where NE comprised all the relevant diseases, and ML comprised the main algorithms), and the key information was filtered.</p><p><strong>Key content and findings: </strong>A total of 159 documents were retrieved, and 23 relevant documents were identified based on the topic, keywords and content. The relevant content showed that the included articles on NE and ML had issues in terms of study standardization, dichotomous study outcomes, and clinical usefulness.</p><p><strong>Conclusions: </strong>To date, most studies on the application of ML to NE have not comprehensively considered the aspects of experimental design, data processing, model building, and evaluation. It is hoped that such models will provide effective decision-making tools for clinical practice in the future, and thus improve the healthy life span of newborns.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"728-739"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095044","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":"Evaluation of radiomics as an assistant tool for radiologists in the diagnosis of necrotizing enterocolitis.","authors":"Chaogang Lu, Mingshu Yang, Yinghao Zhu, Yaqin Xia, Siqi Luo, Guang Yang, Mei Bai, Zhongwei Qiao","doi":"10.21037/tp-2024-496","DOIUrl":"10.21037/tp-2024-496","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing enterocolitis (NEC) is a severe gastrointestinal condition which is mainly diagnosed by abdominal radiographs. Early diagnosis of NEC remains challenging due to its nonspecific clinical symptoms and the variability in radiographic findings. Radiomics can enhance diagnostic accuracy by extracting quantitative features from medical images. This study aimed to evaluate the value of radiomics as an assistant tool in cases of missed diagnosis by radiologists.</p><p><strong>Methods: </strong>In this retrospective study, abdominal radiographs from 484 patients were collected, comprising 262 NEC patients and 222 non-NEC patients from January 2016 to December 2022 in Children's Hospital of Fudan University. The dataset was divided into a training set (n=246), test set (n=105), and a temporal validation set (n=133). Feature selection was performed consecutively using the minimum redundancy maximum relevance (mRMR) and the least absolute shrinkage and selection operator (LASSO) algorithms. A radiomics diagnostic model was constructed using logistic regression. Model performance was evaluated using the area under the curve (AUC). In the temporal validation set, we conducted a parallel test diagnosis using radiomics and the diagnostic results of radiologists, and performed a Chi-squared test against the diagnosis of radiologists.</p><p><strong>Results: </strong>The radiomics diagnostic model which has included 18 features achieved AUCs of 0.82, 0.74, and 0.71 for the training set, test set, and temporal validation set, respectively. In the temporal validation set, the diagnostic results of the parallel test were more sensitive than those of the radiologists (P=0.003).</p><p><strong>Conclusions: </strong>The radiomics model showed certain diagnostic value and offers a unique perspective compared to radiologists, focusing on quantitative features that can assist in early diagnosis and treatment of NEC. This demonstrates the potential of the model in recognizing challenging cases that might be overlooked by naked eyes of radiologists.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"559-570"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094244","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 for prediction of in-hospital mortality rate in children with congenital heart disease in pediatric intensive care: establishment and external validation.","authors":"Lisha Xue, Huanjie Lian, Yong Wu, Shuangyi Guo","doi":"10.21037/tp-2024-506","DOIUrl":"10.21037/tp-2024-506","url":null,"abstract":"<p><strong>Background: </strong>The incidence of congenital heart disease (CHD) has remained constant in recent years. The mortality rate is high in CHD patients admitted to the intensive care unit (ICU), but there is limited research on risk factors for in-hospital mortality. Therefore, the aim of this study was to identify risk factors for in-hospital mortality of CHD children in the ICU and develop a nomogram model to predict in-hospital mortality.</p><p><strong>Methods: </strong>Patient demographics, comorbidities, surgical history, laboratory indicators, and in-hospital mortality were extracted from the paediatric intensive care unit (PICU) database. These patients were divided into training and validation cohorts in a 7:3 ratio. Variable selection was performed using single-factor Cox regression and stepwise Cox regression based on Akaike information criterion (AIC) in the training cohort. The selected variables were used to build a nomogram model, and calibration curves and receiver operator characteristic (ROC) curves were generated to evaluate the predictive performance of the model. Subsequently, an external validation was also carried out in the Medical Information Mart for Intensive Care III (MIMIC-III) database.</p><p><strong>Results: </strong>A total of 2,231 patients were included in the analysis. Lymphocyte percentage [hazard ratio (HR): 1.097, 95% confidence interval (CI): 1.038-1.160], magnesium ion (HR: 1.002, 95% CI: 1.001-1.002), neutrophil percentage (HR: 1.111, 95% CI: 1.050-1.175), oxygen partial pressure (pO₂) (HR: 0.987, 95% CI: 0.981-0.993), partial thromboplastin time (HR: 1.033, 95% CI: 1.020-1.047), and ventricular septal defect repair surgery (HR: 0.117, 95% CI: 0.028-0.494) were identified as independent predictors and were used to construct the nomogram model. ROC curves showed that the model had good discriminative ability with area under the curves (AUCs) of 0.940, 0.857, and 0.776 for predicting in-hospital mortality at 7-, 14-, and 30-days in the training cohort, and AUCs of 0.921, 0.858, and 0.699 in the validation cohort, respectively. In the external dataset, the AUC of the model for predicting 7-, 14-, and 30-day in-hospital mortality were 0.732, 0.722, and 0.629, respectively. The calibration curves demonstrated favorable consistency of the model.</p><p><strong>Conclusions: </strong>Neutrophil percentage in the model exhibits the strongest predictive power, followed by lymphocyte percentage and pO₂. The model shows favorable performance and can provide effective predictive information for clinical practitioners.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"533-544"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094850","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":"Protocol for the field-test and psychometric validation of the pectus excavatum evaluation questionnaire in the Dutch pectus excavatum population.","authors":"Nicky Janssen, Elise J van Polen, Jean H T Daemen, Aimée J P M Franssen, Bjorn Winkens, Karel W E Hulsewé, Yvonne L J Vissers, Erik R de Loos","doi":"10.21037/tp-2024-616","DOIUrl":"10.21037/tp-2024-616","url":null,"abstract":"<p><strong>Background: </strong>Pectus excavatum severely impacts health-related quality of life of affected individuals. The most widely used disease-specific instrument for assessing health-related quality of life in this population is the pectus excavatum evaluation questionnaire (PEEQ). As originally developed and field-tested in the United States, the PEEQ may not be directly applicable in other countries or non-English speaking populations. Here, we outline a protocol for the field-test and psychometric validation of the Dutch translation of the PEEQ.</p><p><strong>Methods: </strong>This prospective single-center study will field-test and validate the psychometric properties of the Dutch PEEQ in sixty-six pectus excavatum patients aged 12 to 17 years old who are scheduled for a Nuss procedure. Their parents/legal guardian will fill out the adult section of the questionnaire. Psychometric validation includes the evaluation of structural validity, internal consistency, test-retest validity, responsiveness, floor- and ceiling effects, and the smallest detectable change.</p><p><strong>Discussion: </strong>As a tertiary referral center, our institution attracts patients from across the Netherlands, enhancing the representativeness of the study sample. To maintain internal validity and focus on clinically significant deformities, the study excludes certain subgroups, including younger children, adults, and those treated conservatively or with the Ravitch procedure. While postoperative responsiveness is assessed, the long-term responsiveness of the PEEQ is not addressed. Despite these limitations, this study represents an important step in validating the PEEQ for clinical and research purposes.</p><p><strong>Trial registration: </strong>clinicaltrials.gov (NCT06918392).</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"694-699"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094855","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 <i>de novo</i> microdeletion of 3q27.1-3q27.2 causing fetal growth retardation: a case report and literature review.","authors":"Chuyang Lin, Mingyan Jiang, Zhen Pan, Jinlin Wu, Jinrong Li","doi":"10.21037/tp-2024-546","DOIUrl":"10.21037/tp-2024-546","url":null,"abstract":"<p><strong>Background: </strong>Chromosomal microdeletions in the 3q26-3q28 region are rare and often associated with fetal growth restriction (FGR), microcephaly, and dysmorphic features. However, the precise genetic mechanisms and phenotypic spectrum remain incompletely understood. This study reports a novel <i>de novo</i> 3q27.1-3q27.2 microdeletion and refines the critical region for this syndrome.</p><p><strong>Case description: </strong>Here we report a 10-month-old girl with FGR and postnatal growth retardation. Molecular cytogenetic investigation [chromosomal single nucleotide polymorphism (SNP) microarray analysis] identified a <i>de novo</i> interstitial 1.56 Mb microdeletion of 3q27.1-3q27.2. The clinical and molecular findings in this patient were compared with the previous literature on cases with overlapping interstitial 3q-deletions. We identified the smallest region of overlap (SRO) carried on chromosome 3q27.1 as the critical region associated with this microdeletion syndrome, where dishevelled segment polarity protein 3 (<i>DVL3</i>) and adaptor related protein complex 2 subunit Mu 1 (<i>AP2M1</i>) may be associated with FGR.</p><p><strong>Conclusions: </strong>This study identifies <i>DVL3</i> and <i>AP2M1</i> as likely contributors to FGR in 3q27.1-3q27.2 microdeletion syndrome and expands the phenotypic spectrum to include hepatic involvement. The findings underscore the importance of early genetic testing in FGR cases and provide insights for future research on genotype-phenotype correlations. Functional studies are needed to validate the roles of these genes in growth and development.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 4","pages":"754-762"},"PeriodicalIF":1.5,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095039","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}