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Fetal and Pediatric Pathology最新文献

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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
Testicular Mixed Teratoma and Yolk Sac Tumor, Prepubertal Type: A Case Report with Summary of Prior Published Cases. 睾丸混合性畸胎瘤和卵黄囊肿瘤，青春期前型：一例病例报告及既往发表病例总结。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2023-11-09 DOI: 10.1080/15513815.2023.2279132
Md Mohin, Soumya Dey, Raktim Ray, Firdous Wasim Sk, Oindrila Das, Uttara Chatterjee
{"title":"Testicular Mixed Teratoma and Yolk Sac Tumor, Prepubertal Type: A Case Report with Summary of Prior Published Cases.","authors":"Md Mohin, Soumya Dey, Raktim Ray, Firdous Wasim Sk, Oindrila Das, Uttara Chatterjee","doi":"10.1080/15513815.2023.2279132","DOIUrl":"10.1080/15513815.2023.2279132","url":null,"abstract":"<p><strong>Background: </strong>Testicular mixed germ cell tumor is common in the post-pubertal age, less so in prepuberty. There are only 3 reports of prepubertal mixed teratoma and yolk sac tumor. Two of these cases had immature teratoma component and were in the neonatal age group. The third case in a toddler had a mature teratoma component.</p><p><strong>Case report: </strong>An 18-month-old boy presented with a testicular mass. Serum AFP was elevated (2200 ng/ml). The orchidectomy specimen contained a yolk-sac tumor and a small epidermoid cyst, indicating a mature teratomatous component.</p><p><strong>Conclusion: </strong>We report a testicular mixed teratoma and yolk sac tumor, prepubertal type along with summary of prior published cases. There is only one report describing this combination of mature teratoma with yolk sac tumor in the prepubertal testis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"182-187"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72016019","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
Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus. 妊娠糖尿病孕妇与非妊娠糖尿病孕妇分娩后脐带血中阿法明值的比较
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-08 DOI: 10.1080/15513815.2023.2300981
Yasemin Dogan, Oguz Arslan, Berrin Oztas, Aylin Kurtali, Ayse Seda Daryal, Müzeyyen Dilsad Eser
{"title":"Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus.","authors":"Yasemin Dogan, Oguz Arslan, Berrin Oztas, Aylin Kurtali, Ayse Seda Daryal, Müzeyyen Dilsad Eser","doi":"10.1080/15513815.2023.2300981","DOIUrl":"10.1080/15513815.2023.2300981","url":null,"abstract":"<p><strong>Objective: </strong>Afamin is a protein that increases in gestational diabetes but its concentration in neonates hasn't been investigated. Our objective is to compare cord blood afamin levels in neonates born to mothers with and without diabetes, and to explore its relationship with maternal and neonatal variables.</p><p><strong>Methods: </strong>In this case control study, umbilical cord blood was collected for afamin measurement in pregestational/gestational diabetic pregnancies (<i>n</i> = 40) and healthy pregnancies (<i>n</i> = 45) after delivery. Correlation analysis was conducted to examine the relationship between afamin levels and maternal BMI, age, HbA1c, fasting and postprandial blood glucose, gestational age, birth weight.</p><p><strong>Results: </strong>The diabetic group had a higher median afamin level (<i>p</i> < 0.001). Afamin concentrations did not differ significantly between diabetic subgroups. The concentration of afamin in cord blood was independent of maternal BMI, age, HbA1c, blood glucose, gestational age, birth weight.</p><p><strong>Conclusion: </strong>The concentration of afamin in cord blood of diabetic pregnancies is significantly higher, irrespective of other clinical factors.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"83-93"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378715","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 Ichthyosis: Current Approaches to Prenatal Diagnoses. 先天性鱼鳞病：目前的产前诊断方法。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-10 DOI: 10.1080/15513815.2023.2301468
Manahel Mahmood Alsabbagh
{"title":"Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.","authors":"Manahel Mahmood Alsabbagh","doi":"10.1080/15513815.2023.2301468","DOIUrl":"10.1080/15513815.2023.2301468","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis.</p><p><strong>Methods: </strong>We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing.</p><p><strong>Results: </strong>Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.</p><p><strong>Discussion: </strong>Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examination of fetal skin biopsy or amniocytes because keratinization occurs later in pregnancy and microscopy cannot differentiate between ichthyosis types. Imaging is more acceptable due to noninvasiveness and routine use, although ultrasonography is operator-dependent, nonspecific, and captures abnormalities at late stage. Molecular tests are described in at-risk pregnancies but testing of free fetal DNA was not described.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"157-175"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139418430","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
Standardizing Minimally Invasive Tissue Sampling of Postmortem Brain Using Bard Monopty Needle in Newborns with Neurological Injury. 使用 Bard Monopty 针对神经损伤新生儿进行脑死亡后微创组织取样的标准化。
IF 1.1 4区 医学
Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-10 DOI: 10.1080/15513815.2023.2301448
Athira Sreenivas, Leslie Lewis, Jayashree Purkayastha, Vani Lakshmi R, Mary Mathew
{"title":"Standardizing Minimally Invasive Tissue Sampling of Postmortem Brain Using Bard Monopty Needle in Newborns with Neurological Injury.","authors":"Athira Sreenivas, Leslie Lewis, Jayashree Purkayastha, Vani Lakshmi R, Mary Mathew","doi":"10.1080/15513815.2023.2301448","DOIUrl":"10.1080/15513815.2023.2301448","url":null,"abstract":"<p><strong>Introduction: </strong>Minimally invasive tissue sampling of the brain in newborns using the Bard Monopty needle helps to diagnose various neurological conditions by obtaining relevant brain cores. We designed a modified procedure to provide maximum diagnostic utility in brain tissue biopsies.</p><p><strong>Method: </strong>Twenty newborns underwent postmortem minimally invasive tissue sampling of the brain through the anterior fontanelle and posterior approach, using the engraved lines on the needle labeled from mark 0 to 13. The cores were correlated with conventional autopsy findings.</p><p><strong>Results: </strong>Meninges were best obtained at marks 0 and 1 from the anterior fontanelle and mark 1 from posterior fontenelle in 85% of cases. Periventricular brain parenchyma was best obtained from mark 3 and mark 1 from anterior and posterior fontanel, respectively in 90% cases. The sampling success in obtaining brain cores was 100%.</p><p><strong>Discussion: </strong>This modified technique increases the yield of meninges and brain tissue in newborns and aids in diagnosis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"94-110"},"PeriodicalIF":1.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139418470","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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