Pediatric and Developmental Pathology最新文献_第2页

Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment. 卡萨马西玛-莫顿-南斯综合征和肢体-体壁缺损：第二例病例及表型评估。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-26 DOI: 10.1177/10935266241281797

Víctor M Salinas-Torres, Rafael A Salinas-Torres

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Sarcomatoid Morphology in Pediatric Langerhans Cell Neoplasm Does Not Always Predict Aggressive Clinical Course. 小儿朗格汉斯细胞肿瘤中的肉瘤样形态并不总能预测侵袭性临床病程。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-28 DOI: 10.1177/10935266241281517

Sam Sirotnikov, Louis P Dehner, José E Velázquez Vega, Jinjun Cheng

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Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology. 6 例 II 型成骨不全胎的病例系列：心脏病理学回顾性研究。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-08-27 DOI: 10.1177/10935266241272511

Sara J E Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G van den Aardweg, Otto Kamp, Elisabeth M W Eekhoff, Marianna Bugiani

{"title":"Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.","authors":"Sara J E Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G van den Aardweg, Otto Kamp, Elisabeth M W Eekhoff, Marianna Bugiani","doi":"10.1177/10935266241272511","DOIUrl":"10.1177/10935266241272511","url":null,"abstract":"Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap.Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1 or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry.Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies.Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"24-30"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074596","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

Rare Hybrid Perineurioma and Granular Cell Tumor: A Pediatric Case. 罕见的混合性会厌瘤和颗粒细胞瘤：一个小儿病例

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-09 DOI: 10.1177/10935266241274529

Kennedy H Sun, Sonia P Goyal, Evelyn M Kim, Esperanza Mantilla-Rivas, Gary F Rogers, Sam P Gulino

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Exploring the Impact and Prospects of Social Media in Advancing Pediatric Pathology. 探索社交媒体在推动儿科病理学发展方面的影响和前景。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-09-26 DOI: 10.1177/10935266241284039

Casey P Schukow, Charles Herndon, Oscar F Lopez-Nunez, Sonja D Chen, Samir Kahwash

引用次数: 0

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