Nermin Koc, Sevcan Arzu Arinkan, Cansu Sonmez, Berker Kaya
{"title":"Expression of E-Cadherin and Ber-EP4 in the Trophoblastic Tissues of Intrauterine and Ectopic Tubal Pregnancies.","authors":"Nermin Koc, Sevcan Arzu Arinkan, Cansu Sonmez, Berker Kaya","doi":"10.1080/15513815.2024.2368579","DOIUrl":"10.1080/15513815.2024.2368579","url":null,"abstract":"<p><p><b>Introduction:</b> We investigated the role of E-cadherin and Ber-EP4 in tubal pregnancy by comparing their expressions in epithelial and trophoblastic cells both in ectopic tubal and intrauterine pregnancies. <b>Methods:</b> The Formalin-fixed paraffin embedded blocks of 17 intrauterine and 17 tubal pregnancies were immunohistochemically stained with E-cadherin and Ber-EP4. <b>Results:</b> E-cadherin was expressed in the epithelium, villous and extravillous trophoblast in tubal and intrauterine pregnancies but not in the syncytiotrophoblast. The staining intensity was lower in the extra-villous trophoblast in tubal ectopic pregnancies compared with intrauterine pregnancies. Ber-EP4 was expressed in the epithelium of tubal and intrauterine pregnancies and only in villous cytotrophoblast. The intensity of staining in tubal pregnancy was higher than in intrauterine pregnancy. <b>Discussion:</b> The loss of E-cadherin expression in extra-villous trophoblast and increased expression of Ber-EP4 in the villous cytotrophoblast may play a role in the formation of tubal pregnancy by allowing the blastocyst to attach to the tubal epithelium.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"290-299"},"PeriodicalIF":0.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443618","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":"Genetic Markers of Acute Childhood B-Lineage Lymphoblastic Leukemia in the Kazakh Population.","authors":"Gulnara Svyatova, Galina Berezina, Aigul Bazarbayeva, Kulyan Omarova, Abay Kussainov","doi":"10.1080/15513815.2024.2375523","DOIUrl":"10.1080/15513815.2024.2375523","url":null,"abstract":"<p><strong>Introduction: </strong>To investigate the genetic contribution of 24 GWAS-associated polymorphic gene variants on the development of children's B-lineage acute lymphoblastic leukemia (B-ALL) in an ethnically homogeneous population of Kazakhs.</p><p><strong>Methods: </strong>A study of 205 children with B-ALL and 204 healthy children was conducted. Genotyping of polymorphic loci was carried out using the TaqMan method.</p><p><strong>Results: </strong>Significant associations (<i>p</i> < 0.05) with the risk of childhood B-ALL were found for twelve variants, including rs6457327 of the HLA gene, rs4251961 of the IL1RN gene, and rs1800630 of the TNF gene. Carriage of the minor allele A of the protective rs1801157 polymorphism A of the CXCL12 gene reduces the risk of B-ALL in the Kazakh population by 40%.</p><p><strong>Discussion: </strong>The results reveal significant associations of polymorphic genetic variants, which can serve as a basis for the development of effective methods for predicting the risk of B-ALL, early diagnosis, and timely treatment.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"300-314"},"PeriodicalIF":0.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141581389","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":"Role of Telomere Length in Radiation Response of Hematopoietic Stem & Progenitor Cells in Newborns.","authors":"Angshuman Biswas, Mandar Bhattacharya, Priyanka Ghosh, Subrata Kumar Dey","doi":"10.1080/15513815.2024.2381752","DOIUrl":"10.1080/15513815.2024.2381752","url":null,"abstract":"<p><strong>Objective: </strong>Wide inter-individual variations in ionizing radiation (IR) responses of neonatal hematopoietic system calls for identifying reliable biomarkers to effectively estimate radiation exposure damages in neonates.</p><p><strong>Methods: </strong>Association between telomere length (TL) at birth and radiation sensitivity of cord blood hematopoietic stem cells (HSC) from 166 healthy newborns were investigated by assessing their clonogenic differentiation. TL was determined as terminal restriction fragment (TRF) by Southern blot method.</p><p><strong>Results: </strong>TL correlated with surviving fractions of total progenitor colony forming cell (CFC) content at 0.75 Gy (<i>p</i> < 0.05), granulo-macrophagic lineage colony forming units (CFU-GM) at 0.75 Gy (<i>p</i> < 0.05) and erythroid burst forming unit (BFU-E) at 0.75 Gy (<i>p</i> < 0.05) & at 3 Gy (<i>p</i> < 0.05) of newborns.</p><p><strong>Conclusion: </strong>Our results indicate risks for HSC clonogenic survival in neonates with shorter telomeres after IR exposure. These observations might aid in considering TL at birth as an assessment factor for radiation related hematopoietic challenges in children.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"315-329"},"PeriodicalIF":0.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898767","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}
Randall Craver, Stephanie Collier, Margot Anderson
{"title":"Cell Free Microbial DNA Utilization at a Children's Hospital.","authors":"Randall Craver, Stephanie Collier, Margot Anderson","doi":"10.1080/15513815.2024.2315434","DOIUrl":"10.1080/15513815.2024.2315434","url":null,"abstract":"<p><p><b>Background:</b> We investigated the utilization of cell free microbial DNA (cfDNA) at a Children's Hospital. <b>Materials and Methods:</b> cfDNA results were assessed regarding the contribution to therapeutic decisions. <b>Results:</b> Of 80 tests on 59 children, 1 test was unevaluable. At least one agent was identified in 45/79 (57%) tests from 34/59 (58.2%) children, 34/79 (43.0%) were negative in 31/59(52.5%) children. Of 45 positive results, 24/79 (30%) were contributory, 15/79 (19%) were diagnostic, 6/79 (7.6%) were diagnostic but diagnosis could have been made with other testing modalities, and 3/79 (3.8%) were diagnostic with minimal previous workup. 21/79 (26.6%) positives were noncontributory. Of 35 negative results, 9/79 (11.4%) were contributory, 26/79 (33.0%) were noncontributory. Efficiency was 30.4-41.8%. cfDNA detected agents not detected by conventional techniques in 22/79 (27.8%), detected different agents in 9/79 (11.4%), and failed to detect agents identified by conventional techniques in 4 (5%). <b>Conclusions:</b> Efficiency of cfDNA was 30.4-41.8.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"208-213"},"PeriodicalIF":1.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724722","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":"MTHFR 677 C > T Gene Polymorphism is Associated with Large for Gestational Age Infants.","authors":"Raziye Akcılar, Emine Esin Yalınbaş, Fezan Mutlu","doi":"10.1080/15513815.2024.2352755","DOIUrl":"10.1080/15513815.2024.2352755","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA).</p><p><strong>Methods: </strong>The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP.</p><p><strong>Results: </strong>There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group.</p><p><strong>Conclusions: </strong>The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"234-245"},"PeriodicalIF":0.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923858","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}
Delaney Sheehan, Belinda Mantle, Ashley Kraft, Randall Craver, Christopher Arcement, Renee Gardner, Ellen Zakris, Daniel Nuss
{"title":"Primary Intraosseous Granular Cell Tumor of the Sphenoid and Central Skull Base in a Pediatric Patient.","authors":"Delaney Sheehan, Belinda Mantle, Ashley Kraft, Randall Craver, Christopher Arcement, Renee Gardner, Ellen Zakris, Daniel Nuss","doi":"10.1080/15513815.2024.2315455","DOIUrl":"10.1080/15513815.2024.2315455","url":null,"abstract":"<p><strong>Background: </strong>Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl.</p><p><strong>Case report: </strong>A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base. The disease has remained stable after 36-month follow up.</p><p><strong>Discussion: </strong>GCT primarily involving the osseous sphenoid/skull base has not been previously reported in a child. Although mostly benign, some are aggressive, with malignant transformation in 1-2%. Surgery is the mainstay of treatment, but in the skull base this may be limited by adjacent critical structures. Decision-making is guided by anatomic extent, histology, and clinical behavior.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"251-256"},"PeriodicalIF":0.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724723","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":"Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.","authors":"Funda Oztunc, Riza Madazli, Hakan Erenel, Didem Kaymak, Serpil Eraslan, Hulya Kayserili","doi":"10.1080/15513815.2023.2300971","DOIUrl":"10.1080/15513815.2023.2300971","url":null,"abstract":"<p><p><b>Introduction</b>: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. <b>Case report:</b> We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. <b>Discussion/Conclusion:</b> CPA may be one of the cardiac anomalies in CHARGE syndrome.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"246-250"},"PeriodicalIF":0.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378716","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}
Min Jung Kim, Jennifer A Hutcheon, Anna F Lee, Jessica Liauw
{"title":"Autopsy-Based Growth Charts May under-Detect Fetal Growth Restriction at Autopsy.","authors":"Min Jung Kim, Jennifer A Hutcheon, Anna F Lee, Jessica Liauw","doi":"10.1080/15513815.2023.2299491","DOIUrl":"10.1080/15513815.2023.2299491","url":null,"abstract":"<p><p><b>Background:</b> Accurate identification of fetal growth restriction in fetal autopsy is critical for assessing causes of death. We examined the impact of using a chart derived from ultrasound measurements of healthy fetuses (World Health Organization fetal growth chart) versus a chart commonly used by pathologists (Archie et al.) derived from fetal autopsy-based populations in diagnosing small-for-gestational-age (SGA) birth in perinatal deaths. <b>Study Design:</b> We examined perinatal deaths that underwent autopsy at BC Women's Hospital, 2015-2021. Weight centiles were assigned using the ultrasound-based fetal growth chart for birthweight and autopsy-based growth chart for autopsy weight. <b>Results:</b> Among 352 fetuses, 30% were SGA based on the ultrasound-based fetal growth chart versus 17% using the autopsy-based growth chart (<i>p</i> < 0.001). Weight centiles were lower when using the ultrasound-based versus autopsy-based growth chart (median difference of 9 centiles [IQR 2, 20]). <b>Conclusions:</b> Autopsy-based growth charts may under-classify SGA status compared to ultrasound-based fetal growth charts.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"198-207"},"PeriodicalIF":1.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378714","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}
Khadiga M. Ali, Gena Abdel-Azeem, Tarik Barakat, Sherine M. Elzeiny, Mohammed Albishbishy, Ahmed Megahed
{"title":"Congenital Gastric Teratoma Presenting with Gastrointestinal Bleeding: Case Report and Review of Literature","authors":"Khadiga M. Ali, Gena Abdel-Azeem, Tarik Barakat, Sherine M. Elzeiny, Mohammed Albishbishy, Ahmed Megahed","doi":"10.1080/15513815.2024.2341235","DOIUrl":"https://doi.org/10.1080/15513815.2024.2341235","url":null,"abstract":"Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and ...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"47 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140635190","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}