Fetal and Pediatric Pathology最新文献

Exchange Transfussion for the Treatment of Severe Indirect Hyperbilirubinemia Caused by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report. 交换输注治疗葡萄糖-6-磷酸脱氢酶缺乏所致严重间接高胆红素血症1例。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-27 DOI: 10.1080/15513815.2025.2565690

Hatice Buket Özay, Melek Tandoğan, Bayram Ali Dorum, Erbu Yarcı

引用次数: 0

Coexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile. 遗传性球形红细胞增多症、β -地中海贫血和吉尔伯特综合征在新生儿中的共存：一种罕见的遗传特征。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-27 DOI: 10.1080/15513815.2025.2565487

Sanjana Kapoor, Priyanka Gupta

引用次数: 0

Evaluating the sFlt1 Mouse Model of Preeclampsia: Benefits and Limitations for Understanding Human Disease. 评估sFlt1小鼠子痫前期模型：了解人类疾病的益处和局限性

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-19 DOI: 10.1080/15513815.2025.2558605

David M Aronoff, Jean W Wassenaar, Meena S Madhur

引用次数: 0

Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia. 2型马赛克三体的广泛临床谱：突尼斯两例新病例报告。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-07-24 DOI: 10.1080/15513815.2025.2534033

Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Ridha M'rad, Nadia Boujelben, Aida Masmoudi, Soumeya Siala Gaigi

{"title":"Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.","authors":"Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Ridha M'rad, Nadia Boujelben, Aida Masmoudi, Soumeya Siala Gaigi","doi":"10.1080/15513815.2025.2534033","DOIUrl":"10.1080/15513815.2025.2534033","url":null,"abstract":"Background: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.Methods: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy.Results: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures. Our second case presented a new clinical finding non described previously in mosaic trisomy 2 which is occipital schizencephaly associated with hydrocephalus.Conclusion: Two new cases of mosaic trisomy 2 were detected at amniocentesis with previously unreported clinical features. Prenatal diagnosis of chromosomal mosaic trisomy 2 continues to create a dilemma in genetic counseling because of limited data and variable outcomes.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"445-456"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709660","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

Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies. 胎儿先天性畸形所致的选择性终止妊娠：先天性畸形病因学诊断的各种调查模式的应用。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-09-11 DOI: 10.1080/15513815.2025.2550978

Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, Snigdha Kumari, Neelam Agarwal, Bharti Sharma, Nandita Kakkar, Kushaljit Singh Sodhi, Pratibha Bawa, Anu Kumari, Chitra Bhardwaj, Shifali Gupta, Parminder Kaur, Anupriya Kaur

{"title":"Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.","authors":"Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, Snigdha Kumari, Neelam Agarwal, Bharti Sharma, Nandita Kakkar, Kushaljit Singh Sodhi, Pratibha Bawa, Anu Kumari, Chitra Bhardwaj, Shifali Gupta, Parminder Kaur, Anupriya Kaur","doi":"10.1080/15513815.2025.2550978","DOIUrl":"10.1080/15513815.2025.2550978","url":null,"abstract":"Introduction: Etiological diagnosis of congenital anomalies greatly influences further reproductive genetic counseling. We herein report our experience of using various modalities for identification of the same. Materials and Methods: Pregnancies undergoing elective termination due to fetal congenital anomaly(ies) detected on antenatal ultrasonography were enrolled. Fetal autopsy, radiological studies and histopathology were done in all cases. Chromosomal Microarray (CMA) and Exome sequencing (ES) was done in selected cases. Results: One hundred seventy-four fetuses were enrolled. In 19.4% of cases a change in diagnosis/recurrence risk was observed based on a finding in autopsy. Utility of radiology and histopathology was observed in 5.7% and 13.4% of a selected subgroup of the cohort respectively. 39 cases (22%) were taken up for genetic testing. In this selected cohort overall positivity rate of genetic testing was 43.5% (28% and 71% for CMA and ES respectively). Conclusion: A phenotype-driven and systematic approach has the highest yield in detecting causes of fetal congenital anomalies.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"457-473"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034591","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

Congenital Mass Lesions of the Thoracic Cavity- A Fetal Autopsy Study. 先天性胸腔肿块病变-胎儿尸检研究。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-07-09 DOI: 10.1080/15513815.2025.2529888

Umamaheswari Gurusamy, Harini Devi Jeganathan Kaliyaperumal Annadurai, Priyadarshini Kumaraswamy Rajeswaran

{"title":"Congenital Mass Lesions of the Thoracic Cavity- A Fetal Autopsy Study.","authors":"Umamaheswari Gurusamy, Harini Devi Jeganathan Kaliyaperumal Annadurai, Priyadarshini Kumaraswamy Rajeswaran","doi":"10.1080/15513815.2025.2529888","DOIUrl":"10.1080/15513815.2025.2529888","url":null,"abstract":"Objectives: Congenital thoracic mass lesions are generally benign but can cause significant morbidity and mortality due to airway obstruction. This study highlights the role of perinatal autopsy in identifying these lesions and correlates autopsy findings with prenatal imaging.Materials and methods: A retrospective analysis of fetal autopsies with thoracic mass lesions was conducted over 9 years. A standardized autopsy protocol, including fixation, photography, foetogram, external examination, en-bloc removal, internal examination, and organ block dissection, was followed and compared with prenatal imaging results.Results: Of 426 fetal autopsies, 20 (4.6%) had thoracic mass lesions. The most common lesion was diaphragmatic hernia (9 cases, 45%), followed by congenital high airway obstruction syndrome (3 cases, 15%). Agreement with prenatal ultrasonography was observed in only 4 cases (20%).Conclusion: Fetal autopsy is crucial for identifying thoracic mass lesions and determining the cause of death, aiding in genetic counseling and management of future pregnancies.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"429-444"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592844","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

MiR-181c-5p Suppresses MAPK1 Transcription During Fetal Distress and Regulates the Sensitivity of Neurons to Hypoxia-Induced Apoptosis. MiR-181c-5p在胎儿窘迫期间抑制MAPK1转录并调节神经元对缺氧诱导的凋亡的敏感性

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-09-11 DOI: 10.1080/15513815.2025.2550985

Xilan Chen, Xiuhua Zhang, Jing Zhang, Limei Mao, Xingshuang Li, Jing Zhang

{"title":"MiR-181c-5p Suppresses MAPK1 Transcription During Fetal Distress and Regulates the Sensitivity of Neurons to Hypoxia-Induced Apoptosis.","authors":"Xilan Chen, Xiuhua Zhang, Jing Zhang, Limei Mao, Xingshuang Li, Jing Zhang","doi":"10.1080/15513815.2025.2550985","DOIUrl":"10.1080/15513815.2025.2550985","url":null,"abstract":"Objective: To examine the expression pattern of microRNA-181c-5p (miR-181c-5p) in fetal distress and explore its influence on neuronal apoptosis. Methods: Quantitative real-time polymerase chain reaction measurement of miR-181c-5p. Enzyme-linked immunosorbent assay was utilized for the examination of apoptosis-related proteins. A fetal distress model was established with oxygen-glucose deprivation/reoxygenation (OGD/R). Cell counting kit-8 and flow cytometry were used to evaluate cellular behaviors. Luciferase reporter assay was employed for target confirmation. Results: MiR-181c-5p was markedly declined in rats with fetal distress. Caspase-3 was distinctly elevated, and survivin was distinctly attenuated in rat models with fetal distress. Overexpression of miR-181c-5p led to a significant promotion of cell viability and a suppression of cell apoptosis in the OGD/R cell model, the appearance of which was rescued by overexpression of mitogen-activated protein kinase 1 (MAPK1). Conclusions: MiR-181c-5p is likely involved in the regulation of neuronal cell growth and apoptosis associated with fetal distress.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"474-487"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034681","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

Liver Dysfunction and Liver Histopathology in Alanyl-tRNA Synthetase 1 (AARS1) Deficiency with a Novel Mutation: A Case Report. Alanyl-tRNA合成酶1 （AARS1）缺乏伴新突变的肝功能障碍和肝脏组织病理学：一例报告。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-07-17 DOI: 10.1080/15513815.2025.2532576

Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Sadhna B Lal

{"title":"Liver Dysfunction and Liver Histopathology in Alanyl-tRNA Synthetase 1 (AARS1) Deficiency with a Novel Mutation: A Case Report.","authors":"Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Sadhna B Lal","doi":"10.1080/15513815.2025.2532576","DOIUrl":"10.1080/15513815.2025.2532576","url":null,"abstract":"Alanyl-tRNA synthetase 1 (AARS1) is a cytosolic enzyme belonging to the Aminoacyl transfer RNA synthetases group that plays a key role in protein translation. Bi-allelic AARS1 mutations presenting as liver dysfunction are rare. A 10-month-old baby girl presented with upper gastrointestinal bleeding and abdominal distension after a short history of febrile illness. There was hepatosplenomegaly with poor growth, microcephaly and delayed developmental milestones on examination. Laboratory investigations showed liver biochemical dysfunction along with correctable coagulopathy. Liver histopathology depicted diffuse macrovesicular steatosis along with expansion of the portal tracts due to accumulation of foamy histiocytes. The hepatic lobules also highlighted the accumulation of foamy histiocytes which were diastase-PAS, faint Perls, and CD68 positive simulating storage cells. Besides, mild portal fibrosis with incomplete septa and mild focal reticulin condensation were also noted. Whole-exome sequencing clinched the diagnosis of a homozygous mutation in the AARS1 gene, a novel mutation with autosomal recessive inheritance. AARS1 mutation affects protein biosynthesis and mitochondrial functions, causing a multisystemic disorder. The first presentation with liver dysfunction is infrequent.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"503-509"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660943","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

Reninoma in an Adolescent Girl: Histopathological Insights with Review of Literature. 一例青春期女孩肾鞘瘤：组织病理学观察与文献复习。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-08-09 DOI: 10.1080/15513815.2025.2543743

Keya Basu, Shristi Butta, Ayush Agarwal, Arijit Singha, Shyamalendu Medda, Debansu Sarkar, Uttara Chatterjee

{"title":"Reninoma in an Adolescent Girl: Histopathological Insights with Review of Literature.","authors":"Keya Basu, Shristi Butta, Ayush Agarwal, Arijit Singha, Shyamalendu Medda, Debansu Sarkar, Uttara Chatterjee","doi":"10.1080/15513815.2025.2543743","DOIUrl":"10.1080/15513815.2025.2543743","url":null,"abstract":"Background: Reninoma is an uncommon mesenchymal tumor of the kidney. It is characterized by renin secretion and uncontrollable hypertension with associated hypokalemia. Case report: Here we report a case in a 15-year-old girl who presented with refractory hypertension, muscle weakness, and fatigue. Diagnostic workup revealed severe hypokalemia, metabolic alkalosis and elevated plasma renin activity with raised aldosterone levels. Renal artery doppler done to exclude renal artery stenosis, revealed a left sided renal mass. Simple nephrectomy was done and histopathological and immunohistochemical examination were consistent with a diagnosis of reninoma. Electron microscopy revealed renin crystals in the cytoplasm, thus confirming the diagnosis. Conclusion: This report underscores the importance of including reninoma in the differential diagnosis of secondary hypertension in an adolescent. Additionally, insights into histopathology and electron microscopy are important for the diagnosis of reninoma as there are several renal tumors that have renin-secreting activity.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"495-502"},"PeriodicalIF":0.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805183","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

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-08-17 DOI: 10.1080/15513815.2025.2543723

Eva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, Kärt Simre, Tiia Reimand, Kristiina Rull

引用次数: 0