Pediatric and Developmental Pathology最新文献_第5页

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease. 墨西哥2型神经性Ceroid脂褐菌病患者的临床、病理和分子表现：支持c.1226致病性g>t变异与樱桃红斑病发生的关系

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-23 DOI: 10.1177/10935266241286723

Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz, María Emilia Mendizábal-Rodríguez, Camilo E Villarroel

{"title":"Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.","authors":"Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz, María Emilia Mendizábal-Rodríguez, Camilo E Villarroel","doi":"10.1177/10935266241286723","DOIUrl":"10.1177/10935266241286723","url":null,"abstract":"Neuronal ceroid lipofuscinosis type 2 (CLN2) results from biallelic pathogenic variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase 1. We report an autopsy case of CLN2 characterized at molecular level. The patient exhibited a spectrum of neurologic symptoms including epilepsy, behavioral alterations, cognitive regression, motor impairment, and visual loss. In fundus exam, a cherry-red spot was observed. She died at 7 years old, autopsy demonstrated severe atrophy of the brain and cerebellum with neuronal loss and gliosis. Neurons were distended by autofluorescent ceroid lipofuscin of 2 types: fine granular deposits and coarse round bodies. In addition, electron microscopy study revealed characteristic curvilinear profiles. After autopsy, a germline molecular test was performed that found the c.1226 G>T variant in a homozygous state. This variant has been referenced in a single undetailed report and is classified as of uncertain significance. Our findings support that cherry-red spot can be present in CLN2 and confirm the pathogenicity of the c.1226 G>T variant. Current management of CLN2 includes enzyme replacement that requires early diagnosis, which can be facilitated by clinical delineation of the disease and appropriate classification and public reporting of TPP1 variants.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"78-82"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883654","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

Fetal Vertebral Chondrostasis-Significance of Excessive Cartilage in Vertebral Bodies of Newborns. 胎儿椎体软骨症--新生儿椎体软骨过多的意义。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-21 DOI: 10.1177/10935266241258543

Emily Gorman, Steven J Staffa, Harry Kozakewich, David Zurakowski

{"title":"Fetal Vertebral Chondrostasis-Significance of Excessive Cartilage in Vertebral Bodies of Newborns.","authors":"Emily Gorman, Steven J Staffa, Harry Kozakewich, David Zurakowski","doi":"10.1177/10935266241258543","DOIUrl":"10.1177/10935266241258543","url":null,"abstract":"Introduction: We describe an abnormality in fetal and neonatal vertebral bodies whose most conspicuous characteristic is an increase in cartilaginous matrix within cancellous osseous trabeculae. We have termed this finding fetal chondrostasis (FC).Methods: We initiated a retrospective review of autopsy reports in which this condition had been prospectively diagnosed during a 36-year period. The Chalkley point counting method was applied to histologic sections of vertebral bodies to assess the relative components of cartilage, bone, and bone marrow. The results were compared to those of three control groups whose causes of death were prematurity, birth trauma, and infection.Results: We found that on average, the cartilaginous content in the FC group was considerably greater in both preterm and term infants when compared to controls. FC seemed to evolve from diminished activity in the cartilaginous growth zone resulting in formation of excessively broad cartilaginous columns. These subsequently suffered from delayed resorption following their incorporation within cancellous bony trabeculae.Conclusion: Excess cartilage within cancellous bone of vertebral centra in newborns is merely one aspect of disturbed intrauterine osseous development but is seemingly more readily discernible than other features at this site. The most common clinical correlates for FC were multiple congenital anomalies, congenital heart disease, intrauterine growth retardation, prematurity, and certain maternal factors.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"15-23"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301149","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

A Novel TEK::GAB2 Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review. 小儿盆腔软组织血管肉瘤中的新型 TEK::GAB2 基因融合：病例报告与文献综述

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-09 DOI: 10.1177/10935266241279073

Zachary Emmanuel Sandoval, Ryan J Schmidt, Jessica Sheth Bhutada, Nick Shillingford, Shengmei Zhou

引用次数: 0

Third Trimester Stillbirth Associated With Hamartoma of Mature Cardiac Myocytes (HMCM). 与成熟心肌细胞脂肪瘤（HMCM）相关的第三胎死产。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-28 DOI: 10.1177/10935266241286716

Silvia Planas, Mariona Genero, Miriam Illa

引用次数: 0

Cord Hemangioma Versus Angiomyxoma: How Many Angels Can Dance on the Head of a Pin? 脐带血管瘤与血管肌瘤：针尖上能舞出多少天使？

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-07 DOI: 10.1177/10935266241297330

James R Wright

引用次数: 0

Interferon γ Expressing Mucosal Cells in Pediatric Chronic Inflammatory Bowel Disease. 小儿慢性炎症性肠病中表达干扰素 γ 的黏膜细胞

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-07-31 DOI: 10.1177/10935266241265767

Jefferson Terry

{"title":"Interferon γ Expressing Mucosal Cells in Pediatric Chronic Inflammatory Bowel Disease.","authors":"Jefferson Terry","doi":"10.1177/10935266241265767","DOIUrl":"10.1177/10935266241265767","url":null,"abstract":"The pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC) is multifactorial and includes aberrations in the composition of gastrointestinal mucosal inflammatory cells. Accurate identification of CD and UC is important as treatment and prognosis differs; however, CD and UC may be difficult to differentiate. Interferon γ (IFNγ) expression appears to be increased in ileal mucosa from CD patients, implying that IFNγ could be a diagnostically useful marker to differentiate CD from UC. This study uses automated assessment of IFNγ immunohistochemical expression in archival GI mucosal biopsies from stomach, duodenum, terminal ileum, and colon in a pediatric population to address this possibility. IFNγ positive mucosal cells are increased in the colon in both CD and UC compared to normal colon and in the ileum of CD compared to normal and UC. The abundance of IFNγ positive cells is not correlated with the presence of active inflammation, indicating that active inflammation is not responsible for the variance in abundance of IFNγ positive cells between cohorts and sites. Overlap between CD, UC, and normal suggests that IFNγ immunohistochemistry may only be clinically useful in select situations such as undetermined inflammatory bowel disease and additional study in these areas is warranted.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"576-581"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857216","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

Maude Abbott: "A Feminine Misfit in an Exclusive Male Environment" and Her Strategies for Success. 莫德-阿博特："男性专属环境中的女性不适应者 "及其成功策略。

IF 16.4 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-10-01 DOI: 10.1177/10935266241281786

James R Wright

{"title":"Maude Abbott: \"A Feminine Misfit in an Exclusive Male Environment\" and Her Strategies for Success.","authors":"James R Wright","doi":"10.1177/10935266241281786","DOIUrl":"10.1177/10935266241281786","url":null,"abstract":"Maude Abbott was a pioneering female Canadian physician who became a world authority on medical museums and congenital heart disease. Abbott spent almost all her career in highly sexist, discriminatory work environments. This paper reviews Abbott's life and accomplishments, but, more importantly, analyzes her pathway to success in the masculine world of early 20th-century academic pathology. Abbott, though well-trained as a pathologist, never provided clinical service, but instead worked as museum curator at McGill University. She established the International Association of Medical Museums (predecessor to the International Academy of Pathology), edited its journal, and essentially ran the organization. Abbott, surrounded by influential males, dealt differently with each. In general, she recognized that male doctors believed women lacked the gravitas to lead major initiatives but that she could circumnavigate this supposed impediment by co-leading projects with male counterparts, preferably ones too busy to get in her way. She repeatedly used this approach, and by doing most of the work but sharing credit, succeeded in gaining reputation, accomplishment, and advancement. Abbott's pioneering work on congenital heart disease established her as one of the founders of pediatric pathology, and, overall, her career promoted the entry of women physicians into the pathology profession.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"513-529"},"PeriodicalIF":16.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142332530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis. 解码 BCOR-ITD 肉瘤：一种罕见儿科肿瘤的病例报告与诊断挑战。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-05-19 DOI: 10.1177/10935266241249344

Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou

{"title":"Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis.","authors":"Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou","doi":"10.1177/10935266241249344","DOIUrl":"10.1177/10935266241249344","url":null,"abstract":"Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without EWSR or FUS fusion. Diverse genetic alterations characterize this group, including BCOR-CCNB3 gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting BCOR-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting BCOR-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"582-586"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960953","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

A Rare Case of Early T-Precursor Lymphoblastic Lymphoma (ETP-LBL) in a Child With Nijmegen Breakage Syndrome. 奈梅亨断裂综合征患儿罕见的早期 T 前体淋巴母细胞淋巴瘤（ETP-LBL）病例。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-05-25 DOI: 10.1177/10935266241255277

Kristina R Brannock, Samir B Kahwash

引用次数: 0

Triaging and Evaluation of Products of Conception in Abortions and Post-Partum Hemorrhage. 人工流产和产后出血受孕产物的分流和评估。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-05-25 DOI: 10.1177/10935266241255981

Philip J Katzman, Jonathan L Hecht

引用次数: 0