Pediatric and Developmental Pathology最新文献_第4页

Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression. 印度儿童肝硬化2例文献复习及金属硫蛋白免疫组化表达意义

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-10 DOI: 10.1177/10935266241312362

Mukul Vij, Vaibhav Shah, Aashay Abhay Shah

{"title":"Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.","authors":"Mukul Vij, Vaibhav Shah, Aashay Abhay Shah","doi":"10.1177/10935266241312362","DOIUrl":"https://doi.org/10.1177/10935266241312362","url":null,"abstract":"Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female. Both children were less than 3 years of age. Presenting complaints were jaundice and hepatosplenomegaly. The clinical diagnosis was metabolic liver disease. Histological findings included diffuse hepatocellular ballooning degeneration, prominent Mallory Denk bodies, diffuse pericellular fibrosis, and marked copper/copper-associated protein deposits, along with the absence of steatosis and glycogenated nuclei. Mettalothionein immunohistochemistry was performed in 1 case and showed strong positivity. The first child developed liver failure and died. The second child was started on oral penicillamine therapy and is alive on the most recent follow-up. Whole-exome studies of both patients showed no significant findings. None of the children had exposure to excess dietary copper. Sporadic cases of Indian childhood cirrhosis continue to occur. There should be greater awareness among pediatricians and pathologists of the disease to enable earlier diagnosis. Awareness of metallothionein expression in biopsies of patients with Indian childhood cirrhosis is important to prevent misdiagnosis of Wilson disease.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241312362"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959075","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 Clinical Diagnosis and Autopsy Findings of Early Neonatal Deaths: Diagnostic Challenges and the Value of Autopsy in Identifying Rare Pathologies. 新生儿早期死亡的临床诊断与尸检结果比较：诊断挑战与尸检在鉴别罕见病症方面的价值。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-01-01 Epub Date: 2024-10-11 DOI: 10.1177/10935266241288869

Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann

{"title":"Comparison of Clinical Diagnosis and Autopsy Findings of Early Neonatal Deaths: Diagnostic Challenges and the Value of Autopsy in Identifying Rare Pathologies.","authors":"Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann","doi":"10.1177/10935266241288869","DOIUrl":"10.1177/10935266241288869","url":null,"abstract":"Background: In a non-forensic hospital setting, neonatal death within the first week of life is often related to premature birth and/or lung diseases. Without post-mortem examination, the identification of the cause of death may be challenging. Autopsy can confirm the clinical diagnosis, uncover additional information or change the diagnosis. Our study aimed to assess the correlation between the clinical diagnosis and post-mortem findings in early neonatal deaths.Methods: The retrospective study included autopsy cases with neonatal deaths within the first 7 days of life (arbitrary time interval 2006-2021). Discrepancies between clinical and histopathological findings were classified into 3 groups: (i) full agreement, (ii) additional findings discovered by autopsy, or (iii) autopsy changed the diagnosis.Results: A cohort of 27 cases could be identified and lung pathologies were the most common finding (56%). Additional findings could be discovered in 48% of cases. Major discrepancies which changed the clinical diagnosis could be found in 11% (n = 3/27) of cases.Conclusion: Frequently, post-mortem examinations validate the clinical diagnosis while revealing crucial information in a few cases. In these discrepant cases, autopsy findings can provide information for genetic counselling and quality control of clinical management.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"38-45"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481113","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

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

引用次数: 0

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

引用次数: 0

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

引用次数: 0

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