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Fetal and Pediatric Pathology最新文献

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Primary Intraosseous Granular Cell Tumor of the Sphenoid and Central Skull Base in a Pediatric Patient. 一名儿童患者的鼻骨和中央颅底原发性骨内颗粒细胞瘤
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-05-01 Epub Date: 2024-02-12 DOI: 10.1080/15513815.2024.2315455
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}
引用次数: 0
Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome. 产前诊断肺动脉交叉，产后诊断为 CHARGE 综合征。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-08 DOI: 10.1080/15513815.2023.2300971
Funda Oztunc, Riza Madazli, Hakan Erenel, Didem Kaymak, Serpil Eraslan, Hulya Kayserili
{"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}
引用次数: 0
Autopsy-Based Growth Charts May under-Detect Fetal Growth Restriction at Autopsy. 基于尸检的生长曲线图可能无法在尸检时检测到胎儿生长受限。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-08 DOI: 10.1080/15513815.2023.2299491
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}
引用次数: 0
Congenital Gastric Teratoma Presenting with Gastrointestinal Bleeding: Case Report and Review of Literature 先天性胃畸胎瘤伴消化道出血：病例报告和文献综述
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-04-22 DOI: 10.1080/15513815.2024.2341235
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}
引用次数: 0
Immunohistochemical and Histopathological Characterization of Spina Bifida Defect Tissues Removed After Prenatal and Postnatal Surgical Repair 产前和产后手术修复后取出的脊柱裂缺损组织的免疫组织化学和组织病理学特征描述
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-04-18 DOI: 10.1080/15513815.2024.2326834
James R. Bardill, Melissa R. Laughter, Jaclyn B. Anderson, Hilary Hoffman, Ahmed Gilani, Maranke I. Koster, Ahmed I. Marwan
{"title":"Immunohistochemical and Histopathological Characterization of Spina Bifida Defect Tissues Removed After Prenatal and Postnatal Surgical Repair","authors":"James R. Bardill, Melissa R. Laughter, Jaclyn B. Anderson, Hilary Hoffman, Ahmed Gilani, Maranke I. Koster, Ahmed I. Marwan","doi":"10.1080/15513815.2024.2326834","DOIUrl":"https://doi.org/10.1080/15513815.2024.2326834","url":null,"abstract":"Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spin...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"26 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140613657","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
Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias 患有贝克维茨-维德曼综合征单亲裂殖症的早产儿的新尸检发现：多灶性发育障碍性软骨瘤病变和皮质神经元异位症
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-04-08 DOI: 10.1080/15513815.2024.2337639
Stephanie Collier, Ewa M. Wasilewska, Randall Craver
{"title":"Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias","authors":"Stephanie Collier, Ewa M. Wasilewska, Randall Craver","doi":"10.1080/15513815.2024.2337639","DOIUrl":"https://doi.org/10.1080/15513815.2024.2337639","url":null,"abstract":"Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localiz...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"11 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140586013","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
Fibrocartilaginous Dysplasia of the Proximal Femur in Two Pediatric Patients, Including a Pathologic Fracture in a Patient With McCune-Albright Syndrome 两名儿童患者的股骨近端纤维软骨发育不良，包括一名麦库恩-阿尔布莱特综合征患者的病理性骨折
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-04-08 DOI: 10.1080/15513815.2024.2320341
Adam Haydel, Randall Craver, Matthew Cable
{"title":"Fibrocartilaginous Dysplasia of the Proximal Femur in Two Pediatric Patients, Including a Pathologic Fracture in a Patient With McCune-Albright Syndrome","authors":"Adam Haydel, Randall Craver, Matthew Cable","doi":"10.1080/15513815.2024.2320341","DOIUrl":"https://doi.org/10.1080/15513815.2024.2320341","url":null,"abstract":"Fibrocartilaginous dysplasia (FCD) is a variant of fibrous dysplasia that often involves the proximal femur in young adults. It has a similar appearance on imaging as other entities but has stipple...","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"474 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140602476","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
Neonatal Dermatopathology: A 10-Year Institutional Review. 新生儿皮肤病理学：10 年机构审查。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-25 DOI: 10.1080/15513815.2024.2307961
Allie Preston, Cynthia Lee, Martin Fernandez, Sophia Hendrick
{"title":"Neonatal Dermatopathology: A 10-Year Institutional Review.","authors":"Allie Preston, Cynthia Lee, Martin Fernandez, Sophia Hendrick","doi":"10.1080/15513815.2024.2307961","DOIUrl":"10.1080/15513815.2024.2307961","url":null,"abstract":"<p><strong>Background/objective: </strong>Neonatal skin conditions are typically diagnosed through noninvasive methods. Few studies describe the spectrum of biopsy- evaluated neonatal skin lesions. We present our institutional experience with the conditions leading to skin biopsies in neonates. The objective is to describe the conditions for which skin biopsies are performed in neonatal patients.</p><p><strong>Methods: </strong>There were 20 neonatal skin biopsies over a 10-year period from the hospital's delivery unit, NICU, and pediatric hospital. Biopsies were categorized as inflammatory (not caused by an infectious agent), congenital, neoplastic, infectious, and vascular conditions.</p><p><strong>Results: </strong>The patients' ages ranged from 1 day to 4 weeks, with a male predominance. There were 6 inflammatory, 7 congenital, 5 neoplastic, 1 infectious, and 1 vascular lesions.</p><p><strong>Conclusions: </strong>The most frequent neonatal skin biopsy lesions were inflammatory or congenital lesions. This review described the types of neonatal dermatopathology specimens that we encountered in practice.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"151-156"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547014","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
Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency. 46，XX睾丸性发育差异的早期诊断：异常表现伴核半透明增加。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2023-10-30 DOI: 10.1080/15513815.2023.2274831
Miguel Saraiva, Vera M F Santos, Lina Ramos, Fabiana Ramos, Joana Serra-Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
{"title":"Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency.","authors":"Miguel Saraiva, Vera M F Santos, Lina Ramos, Fabiana Ramos, Joana Serra-Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante","doi":"10.1080/15513815.2023.2274831","DOIUrl":"10.1080/15513815.2023.2274831","url":null,"abstract":"<p><strong>Introduction: </strong>46,XX testicular disorder of sexual development (DSD) may present prenatally as a mismatch between phenotype and karyotype. Enlarged nuchal translucency is an abnormal sign of many disorders. We present a first trimester fetus with increased nuchal translucency that was later determined to be a 46,XX testicular DSD.</p><p><strong>Case presentation: </strong>A first-trimester pregnancy ultrasound revealed enlarged nuchal translucency. Chorionic villous sampling documented a 46,XX karyotype. Subsequent ultrasounds identified male external genitalia. FISH analysis documented a SRY gene translocation. At birth, the infant had normal male internal and external genitalia.</p><p><strong>Conclusions: </strong>46,XX testicular DSD may present in the first trimester with an enlarged nuchal translucency.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"176-181"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415072","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
Partial Trisomy 4p Syndrome Diagnosed Prenatally. 产前诊断的部分三体4p综合征。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2023-11-10 DOI: 10.1080/15513815.2023.2279138
Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Nadia Boujelben
{"title":"Partial Trisomy 4p Syndrome Diagnosed Prenatally.","authors":"Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Nadia Boujelben","doi":"10.1080/15513815.2023.2279138","DOIUrl":"10.1080/15513815.2023.2279138","url":null,"abstract":"<p><p><b>Introduction:</b> Trisomy 4p is a lethal chromosomal disorder, resulting from segmental or full trisomy of the short arm of chromosome 4. Prenatal diagnosis may allow decisions on whether to continue or terminate the pregnancy. <b>Case report:</b> We diagnosed a fetus with partial trisomy 4p after first-trimester ultrasound detection of increased nuchal translucency, allowing the parents the opportunity to terminate the pregnancy. The partial trisomy 4p was inherited from a balanced translocation carried by the father. <b>Discussion/Conclusion:</b> For this family, the risk of unbalanced chromosomal alterations in subsequent pregnancies is increased due to the father's translocation. Appropriate genetic counseling with future prenatal diagnosis through amniocentesis can be offered to the couple. Trisomy 4p can be associated with increased nuchal thickness in the first trimester.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"188-195"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72211725","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
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