Pediatric and Developmental Pathology最新文献_第2页

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis 先天性肾脏异常的实用方法：聚焦肾小球发育不全或异常的畸形：肾发育不良、肾发育不全和肾小管发育不良

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-09-14 DOI: 10.1177/10935266241239241

Alexia Gazeu, Sophie Collardeau-Frachon

{"title":"Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis","authors":"Alexia Gazeu, Sophie Collardeau-Frachon","doi":"10.1177/10935266241239241","DOIUrl":"https://doi.org/10.1177/10935266241239241","url":null,"abstract":"Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260749","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

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 : 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

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 : 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

Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation. 儿科病理学奠基人：罗恩-杰斐博士（1943-2022）--赏析。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-09-01 Epub Date: 2024-02-24 DOI: 10.1177/10935266231222712

Laura S Finn, Jennifer Picarsic, A S Knisely

引用次数: 0

Nephrotic Syndrome Throughout Childhood: Diagnosing Podocytopathies From the Womb to the Dorm. 贯穿儿童期的肾病综合征：从子宫到宿舍诊断荚膜组织病变。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-09-01 Epub Date: 2024-05-14 DOI: 10.1177/10935266241242669

Laura S Finn

引用次数: 0

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction. 首例模仿血管生长受限的舒瓦赫曼-钻石综合征胎儿病例

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-08-31 DOI: 10.1177/10935266241272735

Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, Aïcha Boughalem, Jelena Martinovic

{"title":"The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.","authors":"Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, Aïcha Boughalem, Jelena Martinovic","doi":"10.1177/10935266241272735","DOIUrl":"https://doi.org/10.1177/10935266241272735","url":null,"abstract":"Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since SBDS gene encodes a protein involved in ribosomal maturation. Its phenotypic postnatal hallmark features include growth delay, bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities. We report a first fetal case of Shwachman-Diamond syndrome and extend its phenotype before birth. The clinical features mimicked vascular growth restriction with FGR and shortened long bones, associated with abnormal Doppler indices. Non-restricted fetal autopsy after termination of pregnancy allowed deep phenotyping disclosing the features of fetal skeletal dysplasia. Post-fetopathological trio exome sequencing identified biallelic pathogenic variants in the SBDS gene. Genotype-phenotype correlations confirmed the diagnosis and enabled an adequate genetic counseling of the parents. Our case is another example of the positive impact of fetal autopsy coupled with post-fetopathological genomic studies, even in the cases that were hitherto classified as maternal or fetal vascular malperfusion.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114837","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

Clinicopathologic Characterization of Invasive Fungal Intestinal Infections in Pediatric Patients. 小儿侵袭性真菌肠道感染的临床病理学特征。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-08-31 DOI: 10.1177/10935266241272564

Muhammad Shaheen, Guang-Sheng Lei, Ryan F Relich, Iván A González

{"title":"Clinicopathologic Characterization of Invasive Fungal Intestinal Infections in Pediatric Patients.","authors":"Muhammad Shaheen, Guang-Sheng Lei, Ryan F Relich, Iván A González","doi":"10.1177/10935266241272564","DOIUrl":"https://doi.org/10.1177/10935266241272564","url":null,"abstract":"Background: Invasive fungal intestinal infections are rare in pediatric patients with limited studies reported to date.Methods: Retrospective study of invasive intestinal fungal infections in pediatric patients. For fungal specification, 18S rRNA gene PCR was performed using formalin-fixed paraffin-embedded tissues.Results: A total of 19 cases from 18 patients were included (13 males, 72%) with a median age of 20 days (8 days-14 years). About 13 patients (72%) presented within 67 days of birth and 11 patients (61%) were premature and 14 patients (78%) had a significant medical history. The most common location was the jejunum/ileum (56%) followed by the right colon and terminal ileum (22%). In 10 patients, the fungal elements were seen in the mucosa with 3 extending into the submucosa, and only 3 patients showed full-thickness involvement. Tissue necrosis and angioinvasion were seen in 13 (72%) and 8 (44%) patients, respectively. Morphologically, organisms consistent with Candida spp. were seen in 17 patients and with a mucoraceous mold in 1 patient. A 18S rRNA gene sequencing performed in 18 cases identified Candida dubliniensis in 16 cases and Candida spp. in 2 cases. During the study follow-up period, 56% of the patients died.Conclusion: In our experience, most cases were due to Candida spp. and predominantly in premature infants and associated with poor outcomes.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114836","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

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 : 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":"https://doi.org/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":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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 : 2024-07-31 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":"https://doi.org/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":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-31","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

TTF-1 Immunoreactivity in the Germinal Matrix: A Brief Case Study. 胚芽基质中的 TTF-1 免疫活性：简要案例研究。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-07-26 DOI: 10.1177/10935266241264603

Sumit Das

引用次数: 0