Merve Koç Yekedüz, Gözde Nur Yağci, İlknur Sürücü Kara, Merve Evgin, Engin Kose, Fatma Tuba Eminoğlu
{"title":"Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods.","authors":"Merve Koç Yekedüz, Gözde Nur Yağci, İlknur Sürücü Kara, Merve Evgin, Engin Kose, Fatma Tuba Eminoğlu","doi":"10.1080/15513815.2024.2447082","DOIUrl":"10.1080/15513815.2024.2447082","url":null,"abstract":"<p><p>Inherited metabolic disorders (IMDs) pose various obstetric challenges. In this study investigates the prenatal and perinatal profiles of pregnancies affected by IMDs and examines their obstetric outcomes. The most frequently observed antepartum issues identified among 996 patients with IMDs were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders are associated with increased incidence of oligohydramnios (<i>p</i> = 0.010), IUGR (<i>p</i> < 0.001), microcephaly (<i>p</i> < 0.001) and intrauterine cardiac issues (<i>p</i> = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial (<i>p</i> < 0.001) and lysosomal/peroxisomal diseases (<i>p</i> = 0.037) when compared to the other IMD groups. The mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses (<i>p</i> = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"53-62"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933450","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":"Exploring Causal Correlations Between Inflammatory Cytokines and Kawasaki Disease: A Mendelian Randomization.","authors":"Yan Pan, Fuyong Jiao","doi":"10.1080/15513815.2024.2414175","DOIUrl":"10.1080/15513815.2024.2414175","url":null,"abstract":"<p><strong>Background: </strong>The role of inflammatory cytokines in Kawasaki disease (KD) pathogenesis is known, but causal relationships are unclear. This study investigates these connections using Mendelian randomization (MR).</p><p><strong>Methods: </strong>Genetic variations associated with KD were obtained from a GWAS including 119 cases and 6071 controls of European ancestry. Genetic data on inflammatory cytokines were sourced from a GWAS of 8,293 healthy participants.</p><p><strong>Results: </strong>The study identified significant associations between higher levels of macrophage colony stimulating factor (M-CSF), monocyte chemotactic protein-1 (MCP-1), and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and increased risk of KD. The odds ratios (OR) were 1.04 (95% CI: 1.01-1.08, <i>p</i> = 0.010) for M-CSF, 1.03 (95% CI: 1.01-1.05, <i>p</i> = 0.026) for MCP-1, and 1.02 (95% CI: 1.01-1.04, <i>p</i> = 0.027) for TRAIL.</p><p><strong>Conclusion: </strong>This study suggests that M-CSF, MCP-1, and TRAIL are potentially involved in the etiology of KD.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-13"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142559192","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":"High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.","authors":"Turgay Cokyaman, Eda Gül Özcan, Nihan Ecmel Akbaş","doi":"10.1080/15513815.2024.2434919","DOIUrl":"10.1080/15513815.2024.2434919","url":null,"abstract":"<p><p><b>Introduction:</b> Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). <b>Methods:</b> Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. <b>Results:</b> WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. <b>Discussion:</b> The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"25-39"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796480","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}
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":"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":"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}