Fetal and Pediatric Pathology最新文献_第7页

Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases. 广泛囊性淋巴畸形伴pik3ca相关过度生长谱：3例胎儿的产前诊断和尸检结果

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-24 DOI: 10.1080/15513815.2025.2496413

M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon

{"title":"Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases.","authors":"M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon","doi":"10.1080/15513815.2025.2496413","DOIUrl":"10.1080/15513815.2025.2496413","url":null,"abstract":"Objective: To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.Methods: We reviewed prenatal imaging and pathological features of three cases of extensive CLM involving the inferior limb extending on the body diagnosed in the second trimester, which were terminated based on the anatomical extension of this vascular malformation.Results: Major asymmetrical soft tissue limb hypertrophy associated with extremities anomalies as well as cystic soft tissue infiltration extending to the body were present in the three cases without any cerebral anomalies. Foetopathological examination performed after TOP confirmed prenatal features, which were suggestive of PROS. Molecular analysis of affected tissues revealed an activating somatic mutation of the PIK3CA gene in all cases.Conclusion: Such prenatal diagnosis is crucial for prenatal counseling in the light of promising targeted therapy leading to orientate the couple.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"411-427"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dynamic Changes of Plasma Mitochondrial DNA in Neonates with Acute Respiratory Distress Syndrome. 新生儿急性呼吸窘迫综合征血浆线粒体DNA的动态变化。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-07-02 DOI: 10.1080/15513815.2025.2525144

Xiaoping Fan, Jiang Junsheng

{"title":"Dynamic Changes of Plasma Mitochondrial DNA in Neonates with Acute Respiratory Distress Syndrome.","authors":"Xiaoping Fan, Jiang Junsheng","doi":"10.1080/15513815.2025.2525144","DOIUrl":"10.1080/15513815.2025.2525144","url":null,"abstract":"Background: This study aimed to analyze mitochondrial DNA levels in neonates with neonatal acute respiratory distress syndrome(ARDS). Method: Neonates diagnosed with ARDS from January 2021 to January 2023 were prospectively included as a study group. The control group was selected from healthy neonates during the same period. Real-time quantitative PCR was used to quantity plasma mtDNA levels. Peripheral blood mononuclear cells were isolated, and the expression levels of cGAS and STING mRNA were measured by real-time quantitative PCR. Peripheral blood mononuclear cells were co-cultured with mtDNA, and ELISA was used to determine the levels of serum IL-6, IL-23, and IFN-γ. Pearson correlation analysis was used to assess the correlation between serum mtDNA and serum IL-6, IL-23, and IFN-γ levels. Results: this study included 25 with mild ARDS, 15 with moderate ARDS, and 10 with severe ARDS, alongside 25 neonates in healthy control group. Compared with the control group, plasma mtDNA levels, serum levels cGAS-STING mRNA, IL-6, IL-23, and IFN-γ were significantly increased in the ARDS groups (p < 0.05). Compared with the mild ARDS group, plasma mtDNA, serum cGAS-STING mRNA, IL-6, IL-23, and IFN-γ levels were significantly increased in the moderate and severe ARDS groups (p < 0.05). Furthermore, compared with day 1, plasma mtDNA, serum cGAS-STING mRNA, IL-6, IL-23, and IFN-γ levels significantly increased on day 3 and significantly decreased on day 7 in all ARDS groups (p < 0.05). Pearson correlation analysis showed that mtDNA levels were correlated with serum IL-6, IL-23, IFN-γ, and cGAS-STING mRNA levels (p < 0.05). Conclusion: Our data demonstrate a potential role of mtDNA with ARDS patients, which may produce inflammatory mediators by activating the cGAS/STING signaling pathway.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"372-382"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics. 新生儿红细胞疾病：连接传统和现代诊断。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-05-19 DOI: 10.1080/15513815.2025.2503178

Vida Shirani Asl, Gholamhossein Tamaddon

{"title":"Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics.","authors":"Vida Shirani Asl, Gholamhossein Tamaddon","doi":"10.1080/15513815.2025.2503178","DOIUrl":"10.1080/15513815.2025.2503178","url":null,"abstract":"Background: Neonatal red blood cell (RBC) disorders encompass a diverse range of inherited and acquired conditions with significant clinical implications. Due to the unique morphological and biochemical characteristics of neonatal erythrocytes, accurate diagnosis is often challenging but critical for effective management.Objective: This review aims to synthesize current knowledge on the diagnosis of neonatal RBC disorders, highlighting the integration of traditional morphological analysis with advanced biochemical and molecular techniques.Methods: A comprehensive literature review was conducted to examine diagnostic approaches to neonatal enzymopathies, membrane disorders, and hemoglobinopathies. The roles of peripheral blood smear (PBS) analysis, enzyme activity assays, and genetic testing-including next-generation sequencing (NGS)-were evaluated in the context of current clinical practice.Discussion: Peripheral blood smear examination remains a foundational tool for identifying characteristic RBC morphologies. Enzymatic deficiencies such as G6PD and pyruvate kinase deficiency, membrane disorders including hereditary spherocytosis and elliptocytosis, and hemoglobinopathies such as thalassemias and sickle cell disease require integrated diagnostic strategies. Advances in molecular diagnostics have enhanced diagnostic precision and expanded the ability to perform early, genotype-driven interventions.Conclusions: A multidisciplinary diagnostic approach that combines morphology, biochemistry, and genetics is essential for the accurate identification and management of neonatal RBC disorders. Bridging traditional microscopy with modern genomic tools offers the potential for earlier diagnosis, personalized treatment, and improved clinical outcomes in neonatal hematology.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"383-410"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fetal NT-proBNP Concentrations in Response to Maternal Anemia: A Study of Term Pregnancies. 胎儿NT-proBNP浓度对母体贫血的反应：足月妊娠的研究。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-14 DOI: 10.1080/15513815.2025.2507254

Kadriye Erdogan, Izzet Ozgurluk, Dilara Kurt, Aslihan Coskun, Zeynep Seyhanli, Ahmet Kurt, Sevinc Cetin, İsmail Burak Gultekin, Busra Korpe

{"title":"Fetal NT-proBNP Concentrations in Response to Maternal Anemia: A Study of Term Pregnancies.","authors":"Kadriye Erdogan, Izzet Ozgurluk, Dilara Kurt, Aslihan Coskun, Zeynep Seyhanli, Ahmet Kurt, Sevinc Cetin, İsmail Burak Gultekin, Busra Korpe","doi":"10.1080/15513815.2025.2507254","DOIUrl":"10.1080/15513815.2025.2507254","url":null,"abstract":"Objective: This study evaluates fetal N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations in umbilical cord blood from anemic versus non-anemic term pregnancies.Materials and methods: In this prospective case-control study, 90 pregnant women were divided into two groups: 45 with maternal anemia and 45 without. Umbilical cord blood NT-proBNP concentrations were analyzed, and maternal data including hemoglobin and ferritin levels were collected.Results: NT-proBNP concentrations were significantly higher in the anemia group (844.42 ± 746.9 pg/mL vs 510.87 ± 378.52 pg/mL, p = 0.01). Maternal ferritin levels were significantly lower in the anemia group (10.02 ± 6.81 vs 37.02 ± 9.79, p < 0.001). A significant inverse relationship was found between hemoglobin and NT-proBNP concentrations (β = -76.27, p < 0.001).Conclusion: Elevated NT-proBNP concentrations in anemic pregnancies suggest a compensatory fetal response to hypoxia, highlighting its potential as a marker for fetal cardiovascular adaptation.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"312-321"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evolving Concepts in Etiology of Biliary Atresia: Insights and Perspectives from India. 胆道闭锁病因学概念的演变：来自印度的见解和观点。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-03 DOI: 10.1080/15513815.2025.2477704

Anil Kumar Ram, Akshit Vats, Alka Bhatia, Yashwant Kumar

引用次数: 0

Evaluation of Cardiac Functions in Neonates with Hypoxic Ischemic Encephalopathy. 新生儿缺氧缺血性脑病心功能的评价。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-21 DOI: 10.1080/15513815.2025.2490029

Leyla Sero, Duygu Tuncel, Mehmet Nur Talay, Mehmet Salih Karaca, Ozlem Gul, Nilufer Okur

引用次数: 0

Opening of the Mitochondrial Permeability Transition Pore Mediated Myocardial Damage After Perinatal Asphyxia in Neonatal Rats. 新生大鼠围产期窒息后线粒体通透性过渡孔开放介导的心肌损伤。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-24 DOI: 10.1080/15513815.2025.2466804

Zhixin Chen, Jianqin Chen, Yongheng Chen, Xiaoyi Fang

{"title":"Opening of the Mitochondrial Permeability Transition Pore Mediated Myocardial Damage After Perinatal Asphyxia in Neonatal Rats.","authors":"Zhixin Chen, Jianqin Chen, Yongheng Chen, Xiaoyi Fang","doi":"10.1080/15513815.2025.2466804","DOIUrl":"10.1080/15513815.2025.2466804","url":null,"abstract":"Objectives: This study investigated the mechanisms underlying myocardial damage after perinatal hypoxia.Methods: An intrauterine hypoxia-ischemia model (I/U HI) and a hypoxia/reoxygenation (H/R) model were established. Myocardial damage, mitochondrial function, and mitochondria permeability transition pore (MPTP) opening were determined. The results, presented as means ± SD, were analyzed using SPSS.Results: Intrauterine hypoxia induced cardiac damage, mitochondrial dysfunction, and MPTP opening in neonatal rats. H/R led to apoptosis and MPTP opening. cTnI and apoptosis-inducing factor (AIF) levels were positively correlated with the degree of MPTP opening. The larger degree of MPTP opening combined with the significant increases in the Ca2+, ROS, and decreases in mitochondrial membrane potential and ATP levels. The larger degree of MPTP opening combined with the stronger release of cytochrome c and AIF.Conclusions: Increased MPTP opening may play a crucial role in perinatal asphyxia-induced myocardial damage in neonatal rats.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"177-195"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature. 伴有产前体征的先天性巨结肠疾病：病例报告及文献回顾。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-03-20 DOI: 10.1080/15513815.2025.2476459

C Marchetto, G Bracalente, P Midrio

引用次数: 0

Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation. Pik3ca体细胞突变的死胎胸部巨静脉畸形。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-24 DOI: 10.1080/15513815.2025.2493721

Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, Elisa Tidu, Patrizio Giovanni Maria Antonazzo, Stefano Faiola, Mariano Matteo Lanna, Elisa Cattaneo, Enrico Farnetti, Davide Nicoli, Maria Paola Bonasoni

{"title":"Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation.","authors":"Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, Elisa Tidu, Patrizio Giovanni Maria Antonazzo, Stefano Faiola, Mariano Matteo Lanna, Elisa Cattaneo, Enrico Farnetti, Davide Nicoli, Maria Paola Bonasoni","doi":"10.1080/15513815.2025.2493721","DOIUrl":"10.1080/15513815.2025.2493721","url":null,"abstract":"Introduction: Congenital venous malformations (VMs) are typically located in the skin of the head and neck, but extension to deep tissues and visceral organs may occur. In 20% of cases, sporadic VMs are caused by somatic mutations in the PIK3CA gene, which determines aberrant angiogenesis. Case report: Intrauterine death of a fetus with a known extensive vascular lesion of the right hemithorax occurred at 28 weeks + 6 days. Autopsy revealed abundant bilateral pleural effusions, and histology showed a VM. High-depth next-generation sequencing for PIK3CA and TEK on amniocytes was negative. Postmortem real-time polymerase chain reaction for PIK3CA on paraffin-embedded samples of the lesion revealed somatic p.H1047X hotspot mutation in the exon 20. Conclusion: To the best of our knowledge, this is the first case of a VM in a stillbirth. Extensive lesions carry a high risk of fetal demise due to high-output cardiac failure.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"273-282"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Thymic Lymphoepithelial Carcinoma in Children: Report of Four Cases and Review of Literature. 儿童胸腺淋巴上皮癌4例报告并文献复习。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-17 DOI: 10.1080/15513815.2025.2486838

Lili He, Yaru Xu, Dantong Miao, Xiaoyi Zhang

引用次数: 0