World journal of clinical pediatrics最新文献

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Transforming central line associated blood stream infection prevention in neonates: Results from a multimodal quality improvement initiative. 转变新生儿中心静脉相关血流感染预防:多模式质量改善倡议的结果。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.118413
Anish Pillai, Nandkishor Kabra, Anuja Nayak, Mayuri Bhanushali, Haribalakrishna Balasubramanian, Sandesh Shivananda
{"title":"Transforming central line associated blood stream infection prevention in neonates: Results from a multimodal quality improvement initiative.","authors":"Anish Pillai, Nandkishor Kabra, Anuja Nayak, Mayuri Bhanushali, Haribalakrishna Balasubramanian, Sandesh Shivananda","doi":"10.5409/wjcp.118413","DOIUrl":"10.5409/wjcp.118413","url":null,"abstract":"<p><strong>Background: </strong>Central line-associated bloodstream infections (CLABSI) are a major cause of morbidity and mortality among neonates in intensive care units. Quality improvement (QI) initiatives targeting CLABSI prevention can significantly enhance patient outcomes.</p><p><strong>Aim: </strong>To evaluate the impact of a multimodal QI initiative on reducing CLABSI incidence in a level-3 neonatal intensive care unit (NICU) and sustaining the improvement over time. The goal was to achieve a 50% reduction in CLABSI rates within 12 months and maintain results for an additional 18 months.</p><p><strong>Methods: </strong>This prospective interventional study was conducted in a level-3 teaching NICU in Western India. All neonates with central venous access during NICU stay were included. Baseline CLABSI rates were measured over a pre-intervention period. The intervention bundle comprised strengthening hand hygiene practices, customizing and updating CLABSI prevention bundles, revising environmental cleaning protocols, conducting regular audits of line insertion and maintenance practices, and implementing structured nursing education sessions. Multiple Plan-Do-Study-Act cycles were used to refine interventions and monitor compliance.</p><p><strong>Results: </strong>The baseline CLABSI rate was 6.4 per 1000 central line days, which decreased to 1.1 per 1000 central line days post-intervention; an 83% reduction. During the 18-month sustainability phase, rates remained low at 0.96 per 1000 central line days. Hand hygiene compliance, adherence to central line bundles, and nursing education coverage improved significantly throughout the intervention and maintenance phases.</p><p><strong>Conclusion: </strong>Implementation of a structured, multimodal QI bundle emphasizing hand hygiene, tailored central line care bundles, regular audits, and nursing education resulted in a substantial and sustained reduction in CLABSI rates. This approach is feasible, cost-effective, and replicable in similar resource-constrained NICU settings.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"118413"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical recovery of severe infantile Angiostrongylus cantonensis meningoencephalomyelitis treated with pulse methylprednisolone: A case report and review of literature. 甲强的松龙脉冲治疗小儿重症广州管圆线虫脑膜脑脊髓炎1例报告并文献复习。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.119602
Bao Trung Nguyen, Luan Thanh Vo, Uyen Hai Pham, Hung Nam Tran, Oanh Hoang-Tran Dang, Dat Tat Nguyen, Tuong Trong-Hanh Tran, Lien Thi To, Viet Chau Do, Thanh Tat Nguyen
{"title":"Clinical recovery of severe infantile <i>Angiostrongylus cantonensis</i> meningoencephalomyelitis treated with pulse methylprednisolone: A case report and review of literature.","authors":"Bao Trung Nguyen, Luan Thanh Vo, Uyen Hai Pham, Hung Nam Tran, Oanh Hoang-Tran Dang, Dat Tat Nguyen, Tuong Trong-Hanh Tran, Lien Thi To, Viet Chau Do, Thanh Tat Nguyen","doi":"10.5409/wjcp.119602","DOIUrl":"10.5409/wjcp.119602","url":null,"abstract":"<p><strong>Background: </strong><i>Angiostrongylus cantonensis</i> (<i>A. cantonensis</i>) is the leading cause of eosinophilic meningitis worldwide. Although infection is often self-limiting in adults, infants may develop severe meningoencephalomyelitis, associated with high morbidity and mortality. The optimal corticosteroid regimen for infants with severe disease and extensive central nervous system involvement remains unclear, and standard-dose corticosteroid therapy may be ineffective in acute fulminant cases.</p><p><strong>Case summary: </strong>A 10-month-old female infant was admitted with fever and vomiting, followed by rapid progression to deep coma, generalized seizures, flaccid quadriplegia, respiratory failure requiring mechanical ventilation, and neurogenic shock necessitating vasopressor support. Eosinophilic meningomyelitis was confirmed by marked eosinophilia in the cerebrospinal fluid (CSF) (42%). The CSF analysis with polymerase chain reaction was positive for <i>A. cantonensis</i> (Ct value 30.41; approximately 1.55 × 10<sup>5</sup> copies). Magnetic resonance imaging revealed diffuse bilateral cerebral lesions with longitudinal cervical myelitis (C3 to C6). The patient was treated with high-dose methylprednisolone (30 mg/kg/day for 5 days), combined with albendazole (15 mg/kg/day for 21 days), which resulted in substantial neurological improvement. The patient was weaned off mechanical ventilation on day 16 and discharged on day 49 with mild residual weakness in the lower extremities. At five months post-discharge, the neurodevelopmental assessment was largely age-appropriate, with marked resolution of the motor and cognitive functions.</p><p><strong>Conclusion: </strong>Pulse methylprednisolone is more effective than standard-dose corticosteroids for treating severe infantile <i>A. cantonensis</i> meningoencephalomyelitis with extensive, life-threatening neurological involvement.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"119602"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congenital aphallia: From embryology to management - a focused minireview. 先天性阴茎下垂:从胚胎学到管理-一个集中的微型综述。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.121760
Eram Nahid, Md Fahim Ahmad, Mohd Arif Shafique
{"title":"Congenital aphallia: From embryology to management - a focused minireview.","authors":"Eram Nahid, Md Fahim Ahmad, Mohd Arif Shafique","doi":"10.5409/wjcp.121760","DOIUrl":"10.5409/wjcp.121760","url":null,"abstract":"<p><p>Aphallia, or penile agenesis, is an extremely rare congenital anomaly with fewer than 100 cases reported worldwide. It results from failed development of the genital tubercle during early embryogenesis, leading to complete absence of penile structures and abnormal urethral opening. This defect is often part of a broader caudal developmental disturbance and is frequently associated with genitourinary anomalies such as urethrorectal fistula, renal agenesis, renal dysplasia, hydronephrosis, and cryptorchidism, all of which significantly influence prognosis. Diagnosis requires careful differentiation from conditions that mimic genital absence, including concealed penis, micropenis, disorders of sex development, and intrauterine penile injury. Several classification systems exist based on urethral location, severity of associated anomalies, and presence of a functional urinary meatus. Management has historically been controversial. Earlier recommendations favored feminizing genitoplasty in infancy; however, growing recognition of prenatal androgen imprinting and the risk of later gender dysphoria has shifted current practice toward male gender assignment and staged neophalloplasty. Reconstructive strategies include temporary non-microsurgical flaps in childhood and definitive microsurgical phalloplasty in adolescence or adulthood. Urethral reconstruction remains a major surgical challenge. Optimal care requires a multidisciplinary team. This review summarizes embryology, clinical spectrum, diagnosis, and evolving management of aphallia.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"121760"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Antibiotic stewardship in the context of management of early onset neonatal sepsis-an evolving paradigm shift. 在早期新生儿败血症管理的背景下抗生素管理-一个不断发展的范式转变。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.120971
Amit Kandhari, Megha Jagga, Sujoy Banerjee
{"title":"Antibiotic stewardship in the context of management of early onset neonatal sepsis-an evolving paradigm shift.","authors":"Amit Kandhari, Megha Jagga, Sujoy Banerjee","doi":"10.5409/wjcp.120971","DOIUrl":"10.5409/wjcp.120971","url":null,"abstract":"<p><p>Early onset neonatal sepsis (EOS) is a rare but potentially life-threatening condition in term and late preterm infants. Clinicians face the challenge of promptly identifying and treating the small subset of neonates with true sepsis, while avoiding unnecessary intervention in the majority who remain unaffected. The clinical overlap between sepsis and normal physiological adaptation in the first 72 hours of life, combined with the limitations of current diagnostic modalities, has historically led to a culture of presumed safety, resulting in the overtreatment of many healthy infants with antibiotics. Such early antibiotic exposure is associated with numerous invasive procedures, disruption of mother-infant bonding, increased healthcare utilisation, and significant costs. Moreover, the global rise of antibiotic resistance, the slow pace of novel antibiotic development, and growing concerns regarding microbiome dysgenesis and its long-term health consequences have catalysed a paradigm shift. Neonatal antibiotic stewardship now stands as a cornerstone of EOS management, seeking to balance the imperative for rapid, effective therapy against the risks of antimicrobial overuse. This review traces the evolution of antibiotic stewardship within neonatal care, highlighting the development and implementation of risk-based guidelines and strategies and decision-support models designed to curtail inappropriate antibiotic use without compromising clinical safety. By synthesising contemporary evidence and practice innovations, we emphasise the necessity for ongoing evaluation and refinement of stewardship approaches to optimise outcomes for neonates at risk of EOS. The journey of neonatal antibiotic stewardship is dynamic and ongoing, demanding sustained collaboration, research, and a commitment to safe, evidence-based clinical practice.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"120971"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants. TNFRSF1A基因变异患儿的临床和实验室表现及治疗
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.119428
Ekaterina I Alexeeva, Meiri Sh Shingarova, Tatyana M Dvoryakovskaya, Ksenia B Isaeva, Aleksandra M Chomakhidze, Anna N Fetisova, Kristina V Chibisova, Elizaveta A Krekhova, Ivan A Kriulin, Tatyana Y Kriulina, Irina T Tsulukiya, Maria S Botova, Natalya M Kondratyeva, Maria Y Kokina, Anastasia A Makunc, Narvik A Dostiev, Kirill V Savostyanov, Aleksandr A Pushkov, Ilya S Zhanin, Dmitry S Demyanov, Mikhail M Kostik
{"title":"Clinical and laboratory manifestations and treatment of children with <i>TNFRSF1A</i> gene variants.","authors":"Ekaterina I Alexeeva, Meiri Sh Shingarova, Tatyana M Dvoryakovskaya, Ksenia B Isaeva, Aleksandra M Chomakhidze, Anna N Fetisova, Kristina V Chibisova, Elizaveta A Krekhova, Ivan A Kriulin, Tatyana Y Kriulina, Irina T Tsulukiya, Maria S Botova, Natalya M Kondratyeva, Maria Y Kokina, Anastasia A Makunc, Narvik A Dostiev, Kirill V Savostyanov, Aleksandr A Pushkov, Ilya S Zhanin, Dmitry S Demyanov, Mikhail M Kostik","doi":"10.5409/wjcp.119428","DOIUrl":"10.5409/wjcp.119428","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The &lt;i&gt;TNFRSF1A&lt;/i&gt; gene encodes TNFR1, which regulates inflammation and apoptosis. Variants in this gene present with an autoinflammatory phenotype and are linked to tumor necrosis factor receptor associated periodic syndrome (TRAPS), an orphan monogenic autoinflammatory disease (AID) that can mimic systemic juvenile idiopathic arthritis (sJIA) and other rheumatic diseases. Despite known mechanisms and classification criteria, diagnosing and choosing therapy for patients with &lt;i&gt;TNFRSF1A&lt;/i&gt; variants remains challenging. Assessing phenotypic characteristics and considering alternative therapies for these patients is important.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt;To evaluate the clinical and laboratory features of sJIA associated with the &lt;i&gt;TNFRSF1A&lt;/i&gt; gene and treatment outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A single-center, retrospective, cross-sectional cohort study with longitudinal follow-up was performed. A total of 66 patients with fever and a referral diagnosis of sJIA were included: 33 (50%) had &lt;i&gt;TNFRSF1A&lt;/i&gt; gene variants identified by molecular genetic testing, and 33 (50%) had no &lt;i&gt;TNFRSF1A&lt;/i&gt; or other autoinflammatory gene variants. Demographic, clinical, laboratory, and treatment data were collected before and after verification of AID, and again at 3, 6, and 12 months.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Molecular genetic testing identified several &lt;i&gt;TNFRSF1A&lt;/i&gt; variants. Of 33 patients, 4 (12%) had likely pathogenic variants, 1 (3%) had a pathogenic variant, and 3 (9.1%) had variants of uncertain significance; all were heterozygous. The most common, identified in 27 (82%), was a variant of uncertain significance (c.362G&gt;A, p.Arg121Gln) with incomplete penetrance. These patients had paroxysmal (48.5%) or continuous fever (48.5%), rash (66.7%), joint syndrome (78.8%), abdominal pain (33.3%), gastrointestinal symptoms (27.2%), eye involvement (24.2%), chest pain (12.1%), hearing loss (9.1%), periorbital edema (9.1%), arrested development (6.1%), aseptic meningitis (3%), hydrocephalus (3%), and amyloidosis (3%). Endoscopic signs of intestinal damage were found in 20 patients (60.6%): 11 showed upper gastrointestinal tract issues; 9 had intestinal pathology. All patients with &lt;i&gt;TNFRSF1A&lt;/i&gt; variants received antirheumatic therapy before genetic testing. Treatments included intravenous glucocorticoids (GC) (45.5%), oral GC (45.5%), intravenous immunoglobulin (18.1%), methotrexate (48.5%), cyclosporine (18.1%), azathioprine (3%), mesalazine (3%), sulfasalazine (3%), and biological (b) disease-modifying antirheumatic drugs (bDMARDs) (72.7%). Of those on bDMARDs, 39.4% received tocilizumab, 9.1% abatacept, 6.1% canakinumab, 6.1% infliximab, 3% rituximab, 3% etanercept, 3% adalimumab, and 3% certolizumab pegol. Among 24 patients with three prior bDMARD switches before genetic diagnosis, 17 (70.8%) achieved remission: 7 on tocilizumab, 6 on canakinumab, 2 on adalimumab, 1 on infliximab, and 1 on rituximab. Aft","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"119428"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Letter to the Editor: Causality dilemma of cytochrome P450 1A2 reduction in neonatal cholestasis. 致编辑的信:新生儿胆汁淤积症中细胞色素P450 1A2降低的因果关系困境。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.118192
Hüseyin Yiğit, Abdulkerim Gökoğlu, Sonay Gökoğlu
{"title":"Letter to the Editor: Causality dilemma of cytochrome P450 1A2 reduction in neonatal cholestasis.","authors":"Hüseyin Yiğit, Abdulkerim Gökoğlu, Sonay Gökoğlu","doi":"10.5409/wjcp.118192","DOIUrl":"10.5409/wjcp.118192","url":null,"abstract":"<p><p>This letter discusses the pilot study by Kotb <i>et al</i> published in <i>World Journal of Clinical Pediatrics</i>, which identifies significantly reduced serum cytochrome P450 1A2 (CYP1A2) levels in neonates with biliary atresia and neonatal hepatitis compared to healthy controls. While these findings highlight a potential role for detoxification mechanisms in neonatal cholestasis, critical methodological issues regarding the interpretation of results warrant attention. The primary concern is the causality dilemma; it is crucial to distinguish between an innate 'defect' (congenital deficiency) and 'downregulation' (secondary suppression). Low CYP1A2 levels may be a secondary consequence of systemic inflammation rather than an inherent susceptibility factor. Furthermore, the reliance on enzyme-linked immunosorbent assay for protein abundance lacks the resolution of functional activity assays. Future research should integrate single-cell multi-omics and gut-metabolite signaling to decode the complexity of the hepatic microenvironment.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"118192"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current and forthcoming pharmacotherapies for adolescent obesity: Evidence-based review. 当前和未来的青少年肥胖药物治疗:循证回顾。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.118730
Jenyfer M Fuentes-Mendoza, Marcio J Concepción-Zavaleta, Luisa Graciela Dongo-Dueñas, Jose Mariano J Jara-Pianto, Jhosmar Angel Sierra-Martel, Claudio Aldahir Medina-Angulo, Horus Michael Virú-Flores, Jeny J Mendoza-Godoy, Francisca E Zavaleta-Gutiérrez, José Paz-Ibarra
{"title":"Current and forthcoming pharmacotherapies for adolescent obesity: Evidence-based review.","authors":"Jenyfer M Fuentes-Mendoza, Marcio J Concepción-Zavaleta, Luisa Graciela Dongo-Dueñas, Jose Mariano J Jara-Pianto, Jhosmar Angel Sierra-Martel, Claudio Aldahir Medina-Angulo, Horus Michael Virú-Flores, Jeny J Mendoza-Godoy, Francisca E Zavaleta-Gutiérrez, José Paz-Ibarra","doi":"10.5409/wjcp.118730","DOIUrl":"10.5409/wjcp.118730","url":null,"abstract":"<p><p>The prevalence of adolescent obesity has increased substantially in recent decades. This disease affects more than 20% of young people. Obesity is associated with metabolic disorders and heart disease. Conservative treatments are not effective in severe obesity. Therefore, this minireview aims to compare and clarify the effectiveness of treatments. It also seeks to identify areas requiring attention to guide clinical practice and future research. A literature search was conducted in databases including PubMed and Scopus. The study focused on randomised trials and meta-analyses in patients aged 12 to 18 years and lasting more than 12 weeks. The results show an improvement induced by glucagon-like peptide 1 receptor agonists, such as semaglutide. Semaglutide reduces body mass index by 16.1%. It is more effective than liraglutide in improving insulin sensitivity. The use of these drugs faces challenges, such as cost. There are also social inequalities that affect health equity. Although no short-term safety issues have been reported, there is still little information available on Tirzepatide and CagriSema in adolescents, compared to their known effect on adults. Therefore, we conclude that semaglutide is the current gold standard, but that there is an urgent need for longer-term studies, comparative evaluations, and safety trials that include paediatric cohorts in order to ensure safe access to pharmacological innovations.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"118730"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glycogen storage disease type XIV in the Middle East and North Africa region: A case report. 中东和北非地区14型糖原贮藏病1例报告。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.v15.i3.117375
Khalid Adel Al Dojan, Samia Aziz Sulaiman, Abdallah Alaarag
{"title":"Glycogen storage disease type XIV in the Middle East and North Africa region: A case report.","authors":"Khalid Adel Al Dojan, Samia Aziz Sulaiman, Abdallah Alaarag","doi":"10.5409/wjcp.v15.i3.117375","DOIUrl":"10.5409/wjcp.v15.i3.117375","url":null,"abstract":"<p><strong>Background: </strong>This case report expands the limited literature on phosphoglucomutase-1 deficiency (GSD XIV), a rare disorder that combines features of glycogen storage disease and congenital disorders of glycosylation. Given its wide clinical spectrum and often subtle early signs, under-recognition remains common. We report this case to highlight its multisystem involvement, emphasize diagnostic challenges, and reinforce the need for early consideration of GSD XIV in patients with unexplained hepatic, metabolic, and neuromuscular abnormalities.</p><p><strong>Case summary: </strong>We describe a case of a three-year-old girl born to consanguineous parents who presented with a constellation of atypical features, including cleft palate with bifid uvula, transient ventricular septal defect, hepatomegaly, persistent transaminitis, recurrent ketotic hypoglycemia, coagulopathy, febrile seizures, and emerging proximal muscle weakness. Despite an extensive workup, including metabolic, infectious, and immunologic testing, no clear diagnosis was identified in early infancy. Whole-exome sequencing revealed a homozygous pathogenic variant in <i>PGM1</i> (c.1294G>T), confirming the diagnosis of GSD XIV.</p><p><strong>Conclusion: </strong>This case highlights that genetic analysis is highly useful for diagnosing and specifying the subtype of GSD in patients with suspected multiorgan involvement, particularly those presenting with persistent transaminitis and neurological abnormalities.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"117375"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autologous in vitreo generated plasmin assisted vitrectomy in the pediatric population. 自体玻璃体生成纤溶酶辅助儿童玻璃体切除术。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.120868
Prema Subramaniam, Ninan Jacob, Veerappan Rathinasabapathy Saravanan, Parag K Shah, Abhishek Das, Narendran Venkatapathy
{"title":"Autologous <i>in vitreo</i> generated plasmin assisted vitrectomy in the pediatric population.","authors":"Prema Subramaniam, Ninan Jacob, Veerappan Rathinasabapathy Saravanan, Parag K Shah, Abhishek Das, Narendran Venkatapathy","doi":"10.5409/wjcp.120868","DOIUrl":"10.5409/wjcp.120868","url":null,"abstract":"<p><strong>Background: </strong>Inducing posterior vitreous detachment (PVD) is a crucial step in vitreoretinal surgery. However, compared with older patients, induction of PVD in pediatric and young adult populations is considerably more difficult. Recent studies have shown the utility of autologous plasmin enzyme in inducing PVD in pediatric patients.</p><p><strong>Aim: </strong>To evaluate the anatomical and functional outcomes of patients with retinal detachment, treated with <i>in vivo</i> generated autologous plasmin, as an adjunct to vitreoretinal surgery.</p><p><strong>Methods: </strong>This is a retrospective observational case series including ten eyes of nine patients with retinal detachment, secondary to various pathologies. All eyes that received simultaneous intravitreal injection of 0.1 mL of autologous blood and 25 μg of tissue plasminogen activator (t-PA) 3 days before surgery were analyzed.</p><p><strong>Results: </strong>The mean age of the cohort was 9.3 +/- 4.16 years, ranging from 5 years to 16 years. Four out of nine patients were female. Five of the ten eyes had previously undergone vitreoretinal surgery. In the study cohort, five patients had high myopia, two patients had Stickler's syndrome, one had juvenile X-lined retinoschisis, and one had familial exudative vitreoretinopathy associated with retinal detachment. No eye required repeat vitreoretinal surgery for recurrent retinal detachment or membrane peeling following the primary procedure, with adjunctive intravitreal autologous plasmin the median baseline visual acuity was 2.30 logarithm of the minimum angle of resolution (LogMAR) [interquartile range (IQR): 1.85-2.60], and the median final visual acuity was 1.54 LogMAR (IQR: 1.08-1.78), showing a statistically significant improvement (<i>P</i> = 0.01), with five eyes regaining functional visual acuity.</p><p><strong>Conclusion: </strong>Adjunctive intravitreal autologous plasmin improves the anatomical outcome of vitreoretinal surgery in pediatric patients. However these findings require validation in a large sample, prospective study.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"120868"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Persistent long-term subclinical myocardial changes in multisystem inflammatory syndrome in children revealed by cardiac magnetic resonance and galectin-3. 心脏磁共振和半凝集素-3显示儿童多系统炎症综合征的持续长期亚临床心肌改变。
World journal of clinical pediatrics Pub Date : 2026-09-09 DOI: 10.5409/wjcp.118237
Sathish K Ov, Rakesh K Pilania, Radhika Semwal, Gopika Sri, Taranpreet Kaur, Pavithra Subramanian, Ankur Jindal, Sanjeev Naganur, Surjit Singh, Manphool Singhal
{"title":"Persistent long-term subclinical myocardial changes in multisystem inflammatory syndrome in children revealed by cardiac magnetic resonance and galectin-3.","authors":"Sathish K Ov, Rakesh K Pilania, Radhika Semwal, Gopika Sri, Taranpreet Kaur, Pavithra Subramanian, Ankur Jindal, Sanjeev Naganur, Surjit Singh, Manphool Singhal","doi":"10.5409/wjcp.118237","DOIUrl":"10.5409/wjcp.118237","url":null,"abstract":"<p><strong>Background: </strong>Multisystem inflammatory syndrome in children (MIS-C), a post-infectious complication of severe acute respiratory distress syndrome corona virus-2, commonly presents with acute myocardial dysfunction. Although early recovery is frequently observed, the long-term myocardial health, particularly subclinical changes detectable by cardiac magnetic resonance imaging (CMRI), remains unclear. Biomarkers such as Galectin-3 may offer insight into persistent inflammation or fibrosis.</p><p><strong>Aim: </strong>To evaluate long-term myocardial structure and function in children following MIS-C using CMRI and two-dimensional echocardiography (2D-ECHO), and to assess serum galectin-3 levels and their correlation with imaging findings.</p><p><strong>Methods: </strong>Twelve children diagnosed with MIS-C were prospectively evaluated ≥ 6 months post-illness (mean follow-up: 23.6 months). All participants underwent the same-day 2D-ECHO and 3T CMRI, including cine imaging, T1/T2 mapping, and late gadolinium enhancement. Serum galectin-3 levels were measured by enzyme-linked immunosorbent assay and compared with those of age-matched controls.</p><p><strong>Results: </strong>2D-ECHO demonstrated a normal ejection fraction (EF) (mean EF: 62.3%) and normal coronary artery Z-scores in all patients. However, CMRI revealed reduced EF (< 55%) in 4/12 (33.3%) patients and low stroke volume in 5/12 (41.7%). Elevated native T1 values, suggestive of diffuse myocardial fibrosis, were observed in 2/12 (16.7%) patients. No late gadolinium enhancement, regional wall motion abnormalities (RWMA), or coronary changes were detected. Serum galectin-3 levels were higher in MIS-C patients compared to controls (13.49 ± 7.63 ng/mL <i>vs</i> 7.48 ± 3.13 ng/mL); however, this difference was not statistically significant.</p><p><strong>Conclusion: </strong>At a mean follow-up of 23.6 months, CMRI identified subclinical myocardial abnormalities in a subset of children with prior MIS-C, including reduced EF (33.3%), low stroke volume (41.7%), and elevated native T1 values (16.7%), despite normal findings on 2D-ECHO. These findings suggest greater CMRI sensitivity than 2D-ECHO for long-term myocardial assessment. Although serum galectin-3 levels were higher in patients compared to controls, the difference was not statistically significant, and its clinical relevance remains to be established. Given the small sample size, larger studies are required to confirm these observations.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 3","pages":"118237"},"PeriodicalIF":0.0,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13491078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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