Fetal and Pediatric Pathology最新文献

Maternal Systemic Lupus Erythematosus and Neonatal Outcomes: A Tertiary Single Center Hospital Experience in Turkey. 母体系统性红斑狼疮和新生儿结局：土耳其三级单中心医院经验。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-30 DOI: 10.1080/15513815.2025.2507276

Gizem Kavram, Beril Yaşa, Elmas Zeynep İnce, Elif Kirit, Meltem Bor, Leyla Bilgin, Mustafa Törehan Aslan, Emine Asuman Çoban

{"title":"Maternal Systemic Lupus Erythematosus and Neonatal Outcomes: A Tertiary Single Center Hospital Experience in Turkey.","authors":"Gizem Kavram, Beril Yaşa, Elmas Zeynep İnce, Elif Kirit, Meltem Bor, Leyla Bilgin, Mustafa Törehan Aslan, Emine Asuman Çoban","doi":"10.1080/15513815.2025.2507276","DOIUrl":"https://doi.org/10.1080/15513815.2025.2507276","url":null,"abstract":"Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women of childbearing age. SLE is associated with many maternal and neonatal morbidities. The aim of this study was to evaluate the neonatal outcomes of infants born to mothers with SLE.Methods: This retrospective cohort study included data on 57 Turkish mother-infant pairs over a 10-year period. Demographic data of the newborns and the presence of neonatal morbidities such as cardiovascular, hematological involvement, and congenital anomalies were the primary outcomes of the study.Results: The median maternal age and gestational age at delivery were 30 (22-43) years and 37.6 (24.1-40.9) weeks, respectively. Thirteen (22.8%) of the mothers were primigravid and 59.6% (n = 34) of the deliveries were by cesarean section. Anti-Ro, anti-La, and anti-dsDNA autoantibodies were present in 38.6% (n = 22) of the mothers. Only one woman developed pre-eclampsia. Nine (15.8%) of the newborns were preterm, 8 (14%) were intrauterine growth restricted. The mean birth weight of the infants was 2846 (675-4240) grams. Three infants (5.2%) required resuscitation in the delivery room. One infant (1.8%) developed a complete atrioventricular block and 1 (1.8%) had esophageal atresia. None of the infants developed the typical rash of neonatal lupus.Conclusions: SLE is an important systemic disease that can complicate pregnancy and neonatal outcomes. Optimal multidisciplinary antenatal care of the mother is essential to improve maternal and fetal outcomes.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-11"},"PeriodicalIF":0.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182756","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

Umbilical Cord Hypercoiling with Stricture and Intrauterine Fetal Death: Association with Maternal Factors and Implications for Pathogenesis. 脐带过盘伴狭窄和宫内胎儿死亡：与母体因素的关联及其发病机制。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-21 DOI: 10.1080/15513815.2025.2507250

Aidan Clement, Art Mendoza, Chris Wixom, Peilin Zhang

{"title":"Umbilical Cord Hypercoiling with Stricture and Intrauterine Fetal Death: Association with Maternal Factors and Implications for Pathogenesis.","authors":"Aidan Clement, Art Mendoza, Chris Wixom, Peilin Zhang","doi":"10.1080/15513815.2025.2507250","DOIUrl":"https://doi.org/10.1080/15513815.2025.2507250","url":null,"abstract":"Introduction: Hypercoiling of umbilical cord with stricture (HCS) is one of the most common etiologies of intrauterine fetal death (IUFD). Whether Wharton's Jelly close to fetal abdomen plays roles in pathogenesis is controversial. Methods: Fetal autopsies were reviewed between 2015 and 2022 and HCS with maternal and fetal factors were examined to determine if these factors were relevant to HCS and IUFD. Results: Totally 389 fetal autopsies were reviewed and 75 cases of HCS were identified. HCS was found more frequently in older (maternal age ≥35) multiparous women with longer cords and increased umbilical coiling index (UCI) (both p < 0.01). There was no significant difference in maternal race/ethnicity, BMI, fetal sex, genetics, seasonality, multiple pregnancies or anomalies in HCS. Conclusions: HCS appeared related to maternal characteristics and it occurred more frequently in older multiparous women associated with longer cords. Lack or poorly developed Wharton's jelly close to fetal abdomen plays important role in IUFD.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-12"},"PeriodicalIF":0.7,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112573","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

Relationship Between Maternal Serum Level of Bilirubin with Sporadic and Recurrent Miscarriage: A Bidirectional 2-Sample Mendelian Randomization Study. 母体血清胆红素水平与散发性和复发性流产的关系：双向双样本孟德尔随机研究。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-19 DOI: 10.1080/15513815.2025.2495683

Sai Kong, Yiwen Wang, Mingyu Yu, Zhigang Zhang, Yanping Qian, Yong Wu, Manyin Zhai, Lijuan Jiang

{"title":"Relationship Between Maternal Serum Level of Bilirubin with Sporadic and Recurrent Miscarriage: A Bidirectional 2-Sample Mendelian Randomization Study.","authors":"Sai Kong, Yiwen Wang, Mingyu Yu, Zhigang Zhang, Yanping Qian, Yong Wu, Manyin Zhai, Lijuan Jiang","doi":"10.1080/15513815.2025.2495683","DOIUrl":"https://doi.org/10.1080/15513815.2025.2495683","url":null,"abstract":"Background: The association between maternal serum bilirubin levels and miscarriage risk remains unclear. This study investigates the causal link between maternal bilirubin levels and both sporadic and recurrent miscarriage using Mendelian randomization (MR) and linkage disequilibrium score regression (LDSC). Methods: A bidirectional two-sample MR analysis examined genetic associations between maternal serum bilirubin (direct and total) and miscarriage. Genetic instruments were derived from genome-wide association studies (GWAS). LDSC was used to assess shared genetic architecture. Odds ratios (OR) and p values were employed to determine statistical significance. Results: Elevated maternal direct bilirubin levels were significantly associated with sporadic miscarriage (OR = 1.028, p = 0.019) and recurrent miscarriage (OR = 1.016, p = 0.005). Similarly, maternal total bilirubin was linked to sporadic miscarriage (OR = 1.022, p = 0.030) and recurrent miscarriage (OR = 1.013, p = 0.007). In contrast, reverse MR showed no significant association between maternal bilirubin level and miscarriage. Furthermore, LDSC confirmed no shared genetic architecture. Conclusion: Elevated maternal serum bilirubin may increase miscarriage risk, warranting further investigation.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-13"},"PeriodicalIF":0.7,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095539","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 : 2025-05-19 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":"https://doi.org/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":"1-28"},"PeriodicalIF":0.7,"publicationDate":"2025-05-19","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

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