Pediatric and Developmental Pathology最新文献_第6页

Is Conservative Management of Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Possible in Children? 儿童是否可能接受具有乳头状核特征的非侵袭性滤泡性甲状腺肿瘤 (NIFTP) 的保守治疗？

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-25 DOI: 10.1177/10935266241282055

Ulgen Celtik, Yesim Ertan, Samim Ozen, Damla Goksen, Ahmet Celik

{"title":"Is Conservative Management of Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Possible in Children?","authors":"Ulgen Celtik, Yesim Ertan, Samim Ozen, Damla Goksen, Ahmet Celik","doi":"10.1177/10935266241282055","DOIUrl":"10.1177/10935266241282055","url":null,"abstract":"Background: Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is a newly recognized entity with benign clinical characteristics. We aim to compare NIFTP with invasive encapsulated follicular variant papillary carcinoma (fvPTC) and to discuss the management.Methods: Records of patients with fvPTC and NIFTP between 2016 and 2022 were reviewed retrospectively. Two groups were compared according to demographics, surgical management, postoperative management, and long-term follow-up.Results: Twenty patients were included in the study, with 10 in NIFTP group and 10 in fvPTC group. The mean age at operation was 14.10 ± 2.61 years. Demographics and preoperative nodule sizes (P = .912) were statistically similar between the 2 groups. Although lobectomy was more common in the NIFTP group, this difference was not statistically significant compared to the fvPTC group in terms of surgical treatment. Postoperatively, while no patient received radioactive iodine treatment(RAI) in NIFTP group, 6 patients in fvPTC group did (P = .011). Five patients in NIFTP group and 3 in the fvPTC group were followed up with lobectomy only, without any adverse events or recurrence, for 47.50 ± 19.25 and 30.10 ± 19.25 months, respectively.Conclusion: In conclusion, NIFTP appears to be an indolent disease in children. Therefore, observation with lobectomy is sufficient, and RAI is not necessary.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"31-37"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142332529","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

CD163 Expression in Chronic Intervillositis of Unknown Etiology and SARS-CoV-2 Placentitis. 病因不明的慢性间质性肺炎和 SARS-CoV-2 胎盘炎中的 CD163 表达

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI: 10.1177/10935266241291107

Jefferson Terry

引用次数: 0

Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases. 带有新型 TTC7A 致病变体的遗传性多发性肠闭锁：两个病例的胃肠道表现

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-10-23 DOI: 10.1177/10935266241284949

Mohamed Abouseif Badawi, Amal Alkhoori, Anoud Saeed Alkaabi, Mona Khalaf, Hayam Mohamed, Saeeda Almarzooqi

{"title":"Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.","authors":"Mohamed Abouseif Badawi, Amal Alkhoori, Anoud Saeed Alkaabi, Mona Khalaf, Hayam Mohamed, Saeeda Almarzooqi","doi":"10.1177/10935266241284949","DOIUrl":"10.1177/10935266241284949","url":null,"abstract":"Hereditary multiple intestinal atresia (HMIA) with TTC7A mutation is caused by homozygous or compound heterozygous TTC7A gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. TTC7A mutation is described in some patients with inflammatory bowel disease and mild-severe forms of severe combined immunodeficiency without intestinal atresia or stenosis. We present 2 cases of intestinal atresia and documented TTC7A mutation with a novel variant. Both cases had different clinical and pathological manifestations. The first case is a male infant born at 35 weeks of gestation with failure to pass meconium. Intestinal biopsy reveals apoptotic enteropathy with villous atrophy and increased mucosal eosinophils. The second case is referred at birth for antenatally detected umbilical hernia, polyhydramnios and possible upper intestinal obstruction. The resected specimen reveals ileal atresia with partial villous atrophy, decreased number of lamina propria inflammatory cells and absence of plasma cells. In conclusion, these cases reflect an emerging TTC7A pathogenic variant with different histological manifestations and leads to characterization as immune dysregulation disorder. There is a need to differentiate TTC7A mutation associated ones from cases labeled as very early onset IBD and rule out other hereditary immunodeficiencies.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"74-77"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513115","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

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

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

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