Frontiers in Pediatrics最新文献

{"title":"Machine learning algorithms for the early detection of bloodstream infection in children with osteoarticular infections.","authors":"Yuwen Liu, Yuhan Wu, Tao Zhang, Jie Chen, Wei Hu, Guixin Sun, Pengfei Zheng","doi":"10.3389/fped.2024.1398713","DOIUrl":"10.3389/fped.2024.1398713","url":null,"abstract":"<p><strong>Background: </strong>Bloodstream infection (BSI) poses a significant life-threatening risk in pediatric patients with osteoarticular infections. Timely identification of BSI is crucial for effective management and improved patient outcomes. This study aimed to develop a machine learning (ML) model for the early identification of BSI in children with osteoarticular infections.</p><p><strong>Materials and methods: </strong>A retrospective analysis was conducted on pediatric patients diagnosed with osteoarticular infections admitted to three hospitals in China between January 2012 and January 2023. All patients underwent blood and puncture fluid bacterial cultures. Sixteen early available variables were selected, and eight different ML algorithms were applied to construct the model by training on these data. The accuracy and the area under the receiver operating characteristic (ROC) curve (AUC) were used to evaluate the performance of these models. The Shapley Additive Explanation (SHAP) values were utilized to explain the predictive value of each variable on the output of the model.</p><p><strong>Results: </strong>The study comprised 181 patients in the BSI group and 420 in the non-BSI group. Random Forest exhibited the best performance, with an AUC of 0.947 ± 0.016. The model demonstrated an accuracy of 0.895 ± 0.023, a sensitivity of 0.847 ± 0.071, a specificity of 0.917 ± 0.007, a precision of 0.813 ± 0.023, and an F1 score of 0.828 ± 0.040. The four most significant variables in both the feature importance matrix plot of the Random Forest model and the SHAP summary plot were procalcitonin (PCT), neutrophil count (N), leukocyte count (WBC), and fever days.</p><p><strong>Conclusions: </strong>The Random Forest model proved to be effective in early and timely identification of BSI in children with osteoarticular infections. Its application could aid in clinical decision-making and potentially mitigate the risk associated with delayed or inaccurate blood culture results.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1398713"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: A potentially pathogenic new variant of the <i>REN</i> gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease.","authors":"Jingyu Ma, Zhijuan Hu, Qiong Liu, Jing Li, Jiejie Li","doi":"10.3389/fped.2024.1415064","DOIUrl":"10.3389/fped.2024.1415064","url":null,"abstract":"<p><strong>Background: </strong>Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by <i>REN</i>-causing pathogenic variants (ADTKD-<i>REN</i>) is a rare group of heritable diseases. ADTKD-<i>REN</i> often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-<i>REN</i> remains challenging.</p><p><strong>Case presentation: </strong>We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G>A;p.Cys362Tyr (not previously reported in the literature) through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease, he was diagnosed with ADTKD.</p><p><strong>Conclusion: </strong>This case identified a new variant in the <i>REN</i> gene, expanding the known spectrum of <i>REN</i> pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1415064"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prevalence of <i>Mycoplasma pneumoniae</i> in children in Shandong, China before, during, and after COVID-19.","authors":"Wenna Kong, Qianqian Wang, Jinhua Zhuo, Xuewei Zhuang","doi":"10.3389/fped.2024.1479311","DOIUrl":"10.3389/fped.2024.1479311","url":null,"abstract":"<p><strong>Background: </strong>The multifaceted non-pharmaceutical interventions after the outbreak of the COVID-19 pandemic not only limited the spread of SARS-CoV2 but also had an impact on the prevalence of other pathogens.</p><p><strong>Methods: </strong>In this work, we retrospectively analyzed the epidemiological characteristics of <i>Mycoplasma pneumoniae</i> (MP) in children before and after the COVID-19 pandemic in Shandong, China. From 2019-2023, there were 29,558 visits of pediatric patients (1 month to 15 years old) with respiratory tract infection (RTI) symptoms at a tertiary hospital in Shandong Province, 10,039 of which were positive for MP according to a passive agglutination assay of the serum IgM antibodies. Conduct statistical analysis and epidemiological investigation of the test results categorized by years, months, ages, genders and clinical diagnosis. Utilize the <i>χ</i> ² test to analyze the differences in incidence rates.</p><p><strong>Results: </strong>Compared to 2019, the number of visits and the positive cases both decreased substantially in 2020, but the positivity rate increased. Both 2021 and 2023 were peak years of MP infection. The peak seasons of MP infection were fall and winter, female patients had higher positivity rate than male patients, and school-age children (>6 years) had higher positivity rate than the children in other age groups. In terms of the clinical manifestation of MP infection, compared to 2019, in 2023, the proportion of bronchopneumonia and upper RTI decreased significantly.</p><p><strong>Conclusions: </strong>The ongoing surveillance of the epidemiology of MP is critical for effective disease management and provides a basis for diagnosis, treatment, and the corresponding prevention and control strategies. This work for the first time characterized the epidemiology of MP in Shandong before and after the COVID-19 pandemic, thus providing valuable information for monitoring and preventing MP infection in the post-epidemic era.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1479311"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: A review of two children with deep sternal wound infections after precordial surgery treated with a simple negative pressure closed drainage technique.","authors":"Yao Jiang, Shan He","doi":"10.3389/fped.2024.1491944","DOIUrl":"10.3389/fped.2024.1491944","url":null,"abstract":"<p><p>Deep sternal wound infection (DSWI) is a rare but potentially devastating complication of median sternotomy performed in cardiac surgery. This report summarizes the nursing management of two pediatric cases with a DSWI treated using Do It Yourself (DIY) negative pressure suction (DIY-NPS) after surgery. The technique maintains a continuous suction pressure of 75 mmHg and intermittently flushes small volumes of fluid to stimulate granulation tissue formation and control systemic infection. After the formation of fresh granulation tissue, both patients achieved successful wound healing and were discharged in good condition.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1491944"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paroxysmal sympathetic hyperactivity syndrome caused by <i>Streptococcus intermedius</i> meningoencephalitis in children: a case report and literature review.","authors":"Qiuling Huang, Ruoyi Zhou, Yean Zhang, Jie Li, Feng Yu","doi":"10.3389/fped.2024.1480514","DOIUrl":"10.3389/fped.2024.1480514","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Paroxysmal sympathetic hyperactivity (PSH) syndrome often occurs with severe traumatic brain injury. However, it can also occur during infections, such as severe bacterial meningoencephalitis in children. <i>Streptococcus intermedius</i> is an aggressive, virulent, opportunistic pathogen. This species can cause meningoencephalitis in children, as reported in a few cases.</p><p><strong>Case information: </strong>A five-year-old boy with no relevant past medical history was admitted to a hospital because of a fever and progressive disturbance of consciousness. His head computed tomography scan and magnetic resonance imaging revealed extensive brain damage and an intraventricular abscess. A next-generation sequencing technology test performed on his cerebrospinal fluid revealed that the child's meningoencephalitis was caused by <i>S. intermedius</i>. During treatment, the child had clinical manifestations such as fever, tachycardia, tachypnea, diaphoresis, and hypertension. Changes in muscle tone and abnormal posture, which were misdiagnosed as epilepsy at the early treatment stage, were also observed; however, anti-epileptic treatment was ineffective. The child was diagnosed with PSH and received the appropriate treatment, and his symptoms eventually improved.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first case report on PSH induced by <i>S. intermedius</i> meningoencephalitis. Early identification, diagnosis, and treatment of PSH are crucial.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1480514"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal site for applying transcutaneous bilirubinometer as an outpatient screening tool for neonatal jaundice: a comparison between the sternum and forehead.","authors":"Emily Zhang, Tzong-Jin Wu, Mark L Hudak, Ke Yan, Ru-Jeng Teng","doi":"10.3389/fped.2024.1446524","DOIUrl":"10.3389/fped.2024.1446524","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The gold standard for assessing neonatal jaundice (NJ) is the serum total serum bilirubin (TSB) level by the diazo method. A transcutaneous bilirubinometer (TCB) provides a convenient, noninvasive readout within minutes. The reliability of TCB as the diagnostic tool and the proper site for TCB measurement remains unsettled.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;This study aimed to (1) evaluate the reliability of TCB in the NJ outpatient management and (2) identify a better site to obtain TCB readings.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This retrospective study examines data collected prospectively over 15 months at a level III facility. Parents were advised to bring their neonates back to our nursery if neonates were judged to be at risk for NJ or poor weight gain, and a follow-up with the primary practitioner was not available. Those who had received phototherapy or sustained forehead bruising were excluded from the analysis. Blood was collected immediately after TCB readings for TSB measurement using the di-azo method. The primary endpoint was admission for treatment according to the AAP 2004 guidelines. A mixed-effects model was used to assess the correlation of forehead TCB (TCB-&lt;sub&gt;f&lt;/sub&gt;) or sternal TCB (TCB-&lt;sub&gt;s&lt;/sub&gt;) with TSB by adjusting for age at measurement (hours), gestational age (GA), sex, and race. Repeated Measure Receiver Operator Characteristic (ROC) curves were constructed for TCB readings against the hospital admission, and the cutoffs for each method were selected to balance the sensitivity and specificity.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;There were 500 visits for 350 neonates, including 136 females, 114 white, 134 black, 71 Hispanic, and 30 Asian. The mean GA was 38.5 weeks [standard deviation (SD) = 1.6], and the mean body weight (BW) was 3,238 g (SD = 506). Forty-five (12.9%) neonates were admitted for phototherapy or blood exchange transfusion according to the TSB levels. Only 43 admitted neonates had all three measurements. Assuming TCB has the same reading as TSB, 30 out of 43 (69.8%) and 20 out of 43 (46.5%) neonates would be sent home if only TCB-&lt;sub&gt;f&lt;/sub&gt; and TCB-&lt;sub&gt;s&lt;/sub&gt; were used, respectively. TCB&lt;sub&gt;f&lt;/sub&gt; has a trend of underestimating the necessity of hospitalization compared to TCB&lt;sub&gt;s&lt;/sub&gt; (&lt;i&gt;p&lt;/i&gt; = 0.092 by McNemar test). After adjusting for age of measurement, GA, sex, and race, both TCB-&lt;sub&gt;f&lt;/sub&gt; and TCB-&lt;sub&gt;s&lt;/sub&gt; readings positively correlated with TSB (&lt;i&gt;p&lt;/i&gt; &lt; 0.0001). Using repeated measure ROC, with hospital admission for treatment as the primary outcome, the area under the curve (AUC) for TCB-&lt;sub&gt;f&lt;/sub&gt; was 0.79 (95% CI: 0.71-0.86), and AUC for TCB-&lt;sub&gt;s&lt;/sub&gt; was 0.86 (95% CI: 0.81-0.92). A cutoff of 14.3 for TCB-&lt;sub&gt;s&lt;/sub&gt; gave a sensitivity of 81% and a specificity of 78%. A cutoff of 12.6 for TCB-&lt;sub&gt;f&lt;/sub&gt; gave a sensitivity of 80% and a specificity of 65%.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;TCB measurements can discriminate well in p","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1446524"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A pilot study of the utility of a hospital-based school program for pediatric patients with cardiac diagnoses.","authors":"Lia K Thibodaux, Ashley L Orr, Debra L Reisinger, Jill Fodstad, Guang Xu, Kristin Wikel, Michelle Curtin","doi":"10.3389/fped.2024.1502378","DOIUrl":"10.3389/fped.2024.1502378","url":null,"abstract":"<p><strong>Introduction: </strong>Pediatric patients with complex cardiac diagnoses are at increased risk for physical, cognitive, and developmental complications. Formalized school support [i.e., individualized education programs (IEPs), Section 504 Accommodation Plans (Section 504 Plans)] that addresses the needs of these patients is necessary, and hospital-based school programs (HBSPs) have the potential to bolster the acquisition of academic support. In this pilot study, we look at the impact of one such HBSP.</p><p><strong>Methods: </strong>Retrospective demographic and school support data for pediatric cardiac patients were analyzed.</p><p><strong>Results: </strong>Our sample included 29 pediatric cardiac patients spanning two academic years. These patients had 100 HBSP encounters and 82 inpatient and 12 outpatient encounters, with 68.9% of patients having multiple encounters in a single year and 44.8% of patients being seen in both years. The HBSP made recommendations for patients to receive IEPs (<i>N</i> = 8) and Section 504 Plans (<i>N</i> = 13). The patients also submitted requests for medical homebound(<i>N</i> = 27), obtaining releases of information (<i>N</i> = 39), submitting medical reports (<i>N</i> = 10), and completing certificates of incapacity (<i>N</i> = 7). Statistical analyses revealed no significant relationships with patients entering or receiving a recommendation for an IEP or Section 504 Plan in any of their encounters with the HBSP on the basis of sex, race/ethnicity, school level, or rates of encounters in this sample.</p><p><strong>Discussion: </strong>Similar to previous studies, these patients had high rates of IEPs/Section 504 Plans in place and continued to receive school recommendations through the HBSP. A high use of the HBSP was seen in the total number of encounters and communications (i.e., submitting to the school of record requests for classroom placement changes via medical homebound). Working with the HBSP provided access to information, formal support recommendations, and communication between medical and school settings in the form of changes in school status.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1502378"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Primary catastrophic antiphospholipid syndrome in a pediatric patient with cerebral venous sinus thrombosis as the first manifestation.","authors":"Lingyang Xu, Jing Wu, Haidong Wang, Baowang Yang","doi":"10.3389/fped.2024.1491095","DOIUrl":"10.3389/fped.2024.1491095","url":null,"abstract":"<p><strong>Background: </strong>Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent vascular thrombotic events. Catastrophic APS (CAPS), which can result in multiple organ failure and even death, is the most severe manifestation of APS. Herein, we report the case of a pediatric patient with CAPS, including the clinical course, diagnosis, and treatment, with the goal of expanding the literature on this condition, as reports of CAPS in pediatric patients are rare.</p><p><strong>Case presentation: </strong>A 7-year-old girl presented with cranial hypertension. She was initially admitted to the hospital with a diagnosis of cerebral venous sinus thrombosis (CVST) and was discharged following symptom improvement. However, only 3 days later, the patient was re-presented with cranial hypertension and multiple thromboses and was ultimately diagnosed with CAPS based on multidisciplinary consensus. Despite treatment with a series of anticoagulation and thrombolytic therapies, the child's condition progressed rapidly, and she eventually died of pulmonary embolism.</p><p><strong>Conclusion: </strong>CAPS in children is rare and associated with a high mortality rate, making early recognition and diagnosis critical but difficult. Based on the presented case, we recommend routine screening for antiphospholipid antibodies in children with CVST without obvious triggers, or a multidisciplinary collaboration, to facilitate the early diagnosis of CAPS.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1491095"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hotspots and status of Fetal Alpha-Thalassemia from 2009 to 2023: a bibliometric analysis.","authors":"Qiuying Li, Xinyan Li, Sheng He, Jiao Li","doi":"10.3389/fped.2024.1467760","DOIUrl":"10.3389/fped.2024.1467760","url":null,"abstract":"<p><strong>Objective: </strong>to evaluate the research status and development hotspots of fetal α-thalassemia by quantitatively analyzing the diagnostic status, key areas, related management measures and prospects of the disease by bibliometrics.</p><p><strong>Methods: </strong>The global literature on fetal α-thalassemia and severe α-thalassemia from 2009-2023 in the Web of Science Core Collection (WOSCC) was visually analyzed by VOSviewer and CiteSpace.</p><p><strong>Results: </strong>(1) The examination of the quantity of publications concerning fetal α-thalassemia indicates a rising tendency prior to 2018, followed by a decrease after 2018. (2)The United States, China, Italy, Thailand have published more papers, and the United States has more collaborating countries such as Italy and China. (3) Chiang Mai University and Harvard University are the top two institutions with the highest contribution. However, Chiang Mai University's H index (12) and citation frequency per article (8.05) are relatively low and the NC (6,342), H index (33) and citations per article (75.42) of Harvard University are higher than those of the other institutions. (4) Tongsong T, Gambari R and Fucharoen S are the top three prolific authors. Fucharoen S emerges as the most frequently cited author with 738 citations, excluding self-citations. (5) HEMOGLOBIN leading with 87 published papers (NC:601,IF: 0.82, H-index: 13), followed by BLOOD(58 papers, Nc: 3755, IF: 25.48, H-index: 40) and BLOOD CELLS MOLECULES AND DISEASES(39 papers, Nc: 729, IF: 2.37, H-index: 16). (6) The most cited article was published in science and the second and third cited articles were featured in the Proceedings of the National Academy of Sciences; the top 3 clusters of co-cited literature are \"gene editing\", \"polymorphisms\", \"hydroxyurea\". (7) Keywords analysis showe that the top two categories of keyword cluster focus on the prenatal diagnosis and the current treatment strategy of the disease, which remain the research hotspots.</p><p><strong>Conclusions: </strong>Recent research on this topic has primarily focused on prenatal diagnosis and treatment strategies. A particular area of interest is the ongoing research on gene therapy.The advances in non-invasive diagnosis and therapeutic methods will change the current management approaches for fetal severe α-thalassemia in the future.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1467760"},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: A novel hemizygous missense <i>PDHA1</i> variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.","authors":"Thi Thanh Ngan Nguyen, Nguyen Ngoc Khanh, Chi Dung Vu, Ngoc-Lan Nguyen, Van Khanh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang, Nguyen Thi Xuan, Nguyen Thien Tao, Tran Van Khoa, Huy Hoang Nguyen","doi":"10.3389/fped.2024.1494604","DOIUrl":"10.3389/fped.2024.1494604","url":null,"abstract":"<p><p>A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the <i>PDHA1</i> gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions. Whole-exome sequencing and variant filtering identified a hemizygous missense variant NM000284.4 (<i>PDHA1</i>): c.479T>G (p.Phe160Cys) in the patient. The variant c.479T>G caused a single nucleotide substitution on exon 5 and was predicted to be a disease-causing variant in the <i>in silico</i> analyses. We present the first report with a genetic analysis of a Vietnamese patient with pyruvate dehydrogenase E1-alpha deficiency (PDHAD). Sanger sequencing demonstrated that the patient inherited the variant from his mother who harbored the variant in a heterozygous state, but no PDHAD symptoms were observed in her. In addition, a prenatal test of the patient's mother revealed a fetus with a normal genotype. Furthermore, the patient's father and sister both carried a normal allele. Based on the American College of Medical Genetics criteria, the variant c.479T>G was predicted to be a likely pathogenic variant. Using the combination of the patient's genotype and phenotype, he was definitively diagnosed with pyruvate dehydrogenase E1-alpha deficiency. Our findings expand the mutational spectrum of neurological disorders and provide the scientific basis for genetic counseling for the patient's family.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1494604"},"PeriodicalIF":2.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}