Bushra K Al-Tarawneh, Stefan Kostadinov, Nina Tatevian
{"title":"Placental Mesenchymal Dysplasia with Unique Chromosomal Abnormality and Unusual Histopathology: A Case Report and Literature Review.","authors":"Bushra K Al-Tarawneh, Stefan Kostadinov, Nina Tatevian","doi":"10.1080/15513815.2024.2431988","DOIUrl":"10.1080/15513815.2024.2431988","url":null,"abstract":"<p><p><b>Introduction:</b> Placental mesenchymal dysplasia (PMD), rare vascular and connective tissue placental anomaly can be associated with fetal intrauterine growth restriction (IUGR), stillbirth, Beckwith-Wiedemann syndrome (BWS), some chromosomal abnormalities, or phenotypically and genetically normal fetuses [1]. We reviewed a PMD case from our institution characterized by a previously undescribed chromosomal abnormality along with an unreported histopathologic finding.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"69-74"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751659","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}
{"title":"Sebaceous Gland Hyperplasia of the Caruncle in a 6-Year-Old Child: A Case Report with Summary of Prior Published Cases.","authors":"Xiaojiao Tang, Jin Zhu, Lin Chen","doi":"10.1080/15513815.2024.2393367","DOIUrl":"10.1080/15513815.2024.2393367","url":null,"abstract":"<p><p><b>Background:</b> Caruncular sebaceous gland hyperplasia (SGH) is an uncommon, benign lesion. Its cause is still unclear. It has not been reported in the pediatric population, with few cases diagnosed in the fourth to eighth decades of life. <b>Case Report:</b> A 6-year-old boy presented with a slowly growing caruncular mass in the right eye. A diagnosis of caruncular SGH was made by histopathology. The clinical, histopathology, treatment, and prognosis are reviewed. <b>Conclusion:</b> This is the first described pediatric case of caruncular SGH that occurs since birth. There are many similarities between adult and pediatric caruncular SGH. Surgical excision is the recommended treatment.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"487-491"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057133","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}
{"title":"A Comprehensive Consolidation of Data on the Relationship Between Surfactant Protein-B (SFTPB) Polymorphisms and Susceptibility to Bronchopulmonary Dysplasia.","authors":"Reza Bahrami, Mohammad Golshan-Tafti, Seyed Alireza Dastgheib, Kamran Alijanpour, Maryam Yeganegi, Mohamad Hosein Lookzadeh, Seyed Reza Mirjalili, Sepideh Azizi, Maryam Aghasipour, Amirmasoud Shiri, Mahmood Noorishadkam, Hossein Neamatzadeh","doi":"10.1080/15513815.2024.2400145","DOIUrl":"10.1080/15513815.2024.2400145","url":null,"abstract":"<p><strong>Background: </strong>This meta-analysis aims to evaluate the potential link between common variations in the Surfactant Protein-B (SFTPB) gene and the risk of bronchopulmonary dysplasia (BPD) in preterm neonates.</p><p><strong>Methods: </strong>All pertinent articles published prior to February 1, 2024, in PubMed, Web of Science, EMBASE, CNKI, and Scopus databases were reviewed.</p><p><strong>Results: </strong>Nineteen case-control studies involving 1149 BPD cases and 1845 non-BPD controls, were analyzed. Combined data indicated a significant link between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD susceptibility, while the 1580 C > T polymorphism provides a protective impact on BPD initiation.</p><p><strong>Conclusions: </strong>Pooled data indicated a significant association between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD risk, whereas the 1580 C > T polymorphism confers protection. These findings suggest a genetic susceptibility to BPD, underscoring the complex interplay of different genetic elements in its development.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"436-454"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156549","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}
{"title":"Revisiting Utility of Fetal Autopsy in Genomic Era.","authors":"Seema Thakur, Chanchal Singh, Preeti Paliwal, Vrunda Appannagri, N Mohit, Gurnihal Singh Chawla, Rounak Bagga","doi":"10.1080/15513815.2024.2393356","DOIUrl":"10.1080/15513815.2024.2393356","url":null,"abstract":"<p><p><b>Background:</b> Autopsy has been a gold standard in cases of antenatal detected anomalies or fetal demise. This helped clinicians in getting insights into the future management. In current times, ultrasound and genomic testing has become extremely powerful in further refining the etiological basis; however, fetal autopsy still has its role even now. <b>Material and Methods:</b> We have discussed the utility of fetal autopsy in current times by diving the cases in seven groups. <b>Results:</b> Case based discussions to discuss the utility of fetal autopsy. <b>Conclusions:</b> We suggest that fetal autopsy should be the standard of care in case of any abnormal fetal outcomes alongwith fetal genomic testing. Fetal autopsy is complementary to the ultrasound assessment and genomic investigations in reaching the final diagnosis and provides invaluable information regarding recurrence risk which may not be available when couple plans next pregnancy.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"510-520"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037600","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}
{"title":"Orbital Sarcoma with <i>BCOR</i> Genetic Alterations in the Pediatric Age Group.","authors":"Syed Saad Salman, Aanchal Kakkar, Seema Kashyap, Sameer Rastogi, Rachna Meel","doi":"10.1080/15513815.2024.2397399","DOIUrl":"10.1080/15513815.2024.2397399","url":null,"abstract":"<p><p><b>Introduction:</b> Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with <i>BCOR</i> genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by <i>BCOR</i> rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. <b>Patients:</b> We describe two cases of orbital sarcomas with <i>BCOR</i> genetic alterations. <b>Results:</b> Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. <b>Conclusion:</b> Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"492-499"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156550","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}
{"title":"Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.","authors":"Elvio Della Giustina, Tiziana Salviato, Stefania Caramaschi, Luca Fabbiani, Luca Reggiani Bonetti","doi":"10.1080/15513815.2024.2412847","DOIUrl":"10.1080/15513815.2024.2412847","url":null,"abstract":"<p><strong>Objectives: </strong>Reporting new neuropathological findings and clinicopathological correlations in Cornelia de Lange syndrome.</p><p><strong>Methods and results: </strong>Cornelia de Lange syndrome has received much attention for its genetics, biochemistry, clinical approach and management, but neuropathological studies are extremely rare. Diffuse hypoplasia of the entire brain, mainly affecting the frontal cortex and, less frequently, the cerebellum, has long been the paradigm for neuropathological findings in rare affected patients. This comprehensive neuropathological study of an affected newborn demonstrates nerve cell heterotopies, poor periventricular matrix and significant hypoplasia of both hippocampi, while Golgi staining of cerebellar tissue samples shows features of nerve cell immaturity.</p><p><strong>Conclusions: </strong>The importance of Cornelia de Lange syndrome as a cohesinopathy and some new neuropathological findings provide an opportunity to discuss and establish interesting clinicopathological correlations, especially with regard to the global intellectual disability of these patients.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"477-486"},"PeriodicalIF":0.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394901","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}
{"title":"New Marker in the Umbilical Cord Blood of Fetuses with Fetal Growth Restriction: Serum Sortilin-1 Level.","authors":"Gulsan Karabay, Burak Bayraktar, Zeynep Seyhanli, Betul Tokguz Cakir, Gizem Aktemur, Serap Topkara Sucu, Nazan Vanlı Tonyali, Selma Ipek, Tugba Kolomuc Gayretli, Sevki Celen","doi":"10.1080/15513815.2024.2412846","DOIUrl":"https://doi.org/10.1080/15513815.2024.2412846","url":null,"abstract":"<p><p><b>Objective:</b> To determine the role of sortilin in the pathogenesis of fetal growth restriction (FGR) by examining serum sortilin levels in fetal cord blood. <b>Methods:</b> This prospective case-control study was conducted at Ankara Etlik City Hospital between July 2023 and January 2024. Group 1 included 44 pregnant women with late FGR; Group 2 included 44 healthy pregnant women as controls. <b>Results:</b> Umbilical cord blood sortilin levels were significantly higher in the FGR group [2.96 (2.43-4.01)] compared to the control group [2.12 (1.74-3.18)] (<i>p</i> = 0.001). Sortilin levels negatively correlated with APGAR scores at 1 min (r=-0.281, <i>p</i> = 0.008) and 5 min (r=-0.292, <i>p</i> = 0.006). A sortilin threshold of 2.58 ng/ml predicted composite adverse neonatal outcomes with 66.7% sensitivity, 53.1% specificity, and an AUC of 0.652 (95% CI: 0.529-0.775, <i>p</i> = 0.031). <b>Conclusion:</b> This study showed that sortilin levels, which are indicators of oxidation, were higher in the cord blood of newborns with late FGR.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-11"},"PeriodicalIF":0.7,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479660","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}
{"title":"Secondary TFE3-Rearranged Renal Cell Carcinoma in a Chinese Girl Treated for Wilms Tumor: Case Report and Literature Review","authors":"Jing Chu, Lian Chen","doi":"10.1080/15513815.2024.2402383","DOIUrl":"https://doi.org/10.1080/15513815.2024.2402383","url":null,"abstract":"Background: With the development of modern medicine and the application of multimodal treatment strategies, the survival rate after childhood malignant tumors as well as the incidence of Secondary ...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"14 1","pages":"1-10"},"PeriodicalIF":1.1,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142253489","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}
{"title":"Pediatric Angiosarcoma with Novel Phenotypic and Genotypic Profile in Chinese Children","authors":"Bo Shao, Yuan Fang, Yizhen Wang, Lian Chen","doi":"10.1080/15513815.2024.2402395","DOIUrl":"https://doi.org/10.1080/15513815.2024.2402395","url":null,"abstract":"Introduction: Angiosarcoma is an exceedingly rare entity in pediatric population. Herein, we report two pediatric angiosarcoma with novel phenotypic and genotypic profile. Methods: The two patients...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"15 1","pages":"1-11"},"PeriodicalIF":1.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142253486","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}