Pediatric and Developmental Pathology最新文献_第10页

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report. TMEM100在新生儿腺泡发育不良和一种新的TBX4变异中表达减少:一例报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2023-12-03 DOI: 10.1177/10935266231213464

Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A Karolak, Gail Deutsch, Drucilla Roberts, Paweł Stankiewicz

{"title":"Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.","authors":"Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A Karolak, Gail Deutsch, Drucilla Roberts, Paweł Stankiewicz","doi":"10.1177/10935266231213464","DOIUrl":"10.1177/10935266231213464","url":null,"abstract":"Acinar dysplasia (AcDys) of the lung is a rare lethal developmental disorder in neonates characterized by severe respiratory failure and pulmonary arterial hypertension refractory to treatment. Recently, abnormalities of TBX4-FGF10-FGFR2-TMEM100 signaling regulating lung development have been reported in patients with AcDys due to heterozygous single-nucleotide variants or copy-number variant deletions involving TBX4, FGF10, or FGFR2. Here, we describe a female neonate who died at 4 hours of life due to severe respiratory distress related to AcDys diagnosed by postmortem histopathologic evaluation. Genomic analyses revealed a novel deleterious heterozygous missense variant c.728A>C (p.Asn243Thr) in TBX4 that arose de novo on paternal chromosome 17. We also identified 6 candidate hypomorphic rare variants in the TBX4 enhancer in trans to TBX4 coding variant. Gene expression analyses of proband's lung tissue showed a significant reduction of TMEM100 expression with near absence of TMEM100 within the endothelium of arteries and capillaries by immunohistochemistry. These results support the pathogenicity of the detected TBX4 variant and provide further evidence that disrupted signaling between TBX4 and TMEM100 may contribute to severe lung phenotypes in humans, including AcDys.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"255-259"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479318","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

First Reported Histologically and Molecularly Confirmed Bilateral High-Grade Serous Ovarian Adenocarcinoma Metastasized to Placental Decidua of the Membranes. 首次报道经组织学和分子学证实转移至胎盘蜕膜的双侧高级别浆液性卵巢腺癌

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-14 DOI: 10.1177/10935266231222180

Salma El Emrani, Linda S Nooij, Chiara C M M Lap, Lotte E van der Meeren

{"title":"First Reported Histologically and Molecularly Confirmed Bilateral High-Grade Serous Ovarian Adenocarcinoma Metastasized to Placental Decidua of the Membranes.","authors":"Salma El Emrani, Linda S Nooij, Chiara C M M Lap, Lotte E van der Meeren","doi":"10.1177/10935266231222180","DOIUrl":"10.1177/10935266231222180","url":null,"abstract":"A 43-year-old female presented with blood loss and persistent abdominal pain at 14 weeks of gestation. Ultrasound examination and subsequent magnetic resonance imaging (MRI) revealed bilateral multicystic uterine adnexa. Exploratory laparotomy was performed at 17 weeks of gestation and bilateral serous ovarian adenocarcinoma FIGO stage IIIC was diagnosed. Complete cytoreductive surgery (CRS) was not feasible at that moment. Nine days after the exploratory laparotomy, immature rupture of membranes and contractions occurred and she delivered a premature boy after 19 weeks of gestation. Pathological examination of the placenta revealed that her ovarian cancer metastasized to the membranes. We describe the first case of ovarian cancer metastasized to the decidua of the placental membranes with histological, immunohistochemical, and molecular confirmation. This case highlights the importance of conscientious evaluation of placenta and membranes in pregnant women with ovarian cancer.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"270-274"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139467161","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

Expression of Calretinin in the Cecal Muscularis Interna: Observation and Hypothetical Relevance to Appendicitis. 钙凝蛋白在盲肠肌内的表达：观察及与阑尾炎的假定相关性。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-03-28 DOI: 10.1177/10935266241235507

Raj P Kapur

{"title":"Expression of Calretinin in the Cecal Muscularis Interna: Observation and Hypothetical Relevance to Appendicitis.","authors":"Raj P Kapur","doi":"10.1177/10935266241235507","DOIUrl":"10.1177/10935266241235507","url":null,"abstract":"Background: The unexpected observation of calretinin immunoreactivity in smooth muscle cells in the muscularis propria of the cecum led to a more detailed examination of calretinin expression and its possible relationship to propulsive contractile activity around the vermiform appendix.Methods: Immunohistochemistry and RNA in situ hybridization were performed to analyze calretinin expression in intestinal samples from 33 patients at ages ranging from mid-gestation fetuses to adults, as well as in some potentially relevant animal models. Dual immunolabeling was done to compare calretinin localization with markers of smooth muscle and interstitial cells of Cajal.Results: Calretinin expression was observed consistently in the innermost smooth muscle layers of the muscularis interna in the human cecum, appendiceal base, and proximal ascending colon, but not elsewhere in the intestinal tract. Calretinin-positive smooth muscle cells did not co-express markers located in adjacent interstitial cells of Cajal. Muscular calretinin immunoreactivity was not detected in the ceca of mice or macaques, species which lack appendices, nor in the rabbit cecum or appendix.Conclusions: Localized expression of calretinin in cecal smooth muscle cells may reduce the likelihood of retrograde, calcium-mediated propulsive contractions from the proximal colon and suppress pro-inflammatory fecal stasis in the appendix.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"241-254"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319932","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

Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome. 蓝橡皮痣综合征淋巴内皮标志物的免疫组化表达

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-03-21 DOI: 10.1177/10935266241228930

Andrea C Bakker, Steven J Fishman, Marilyn G Liang, Alyaa Al-Ibraheemi, Harry P Kozakewich, John B Mulliken, Jonathan C Slack

{"title":"Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome.","authors":"Andrea C Bakker, Steven J Fishman, Marilyn G Liang, Alyaa Al-Ibraheemi, Harry P Kozakewich, John B Mulliken, Jonathan C Slack","doi":"10.1177/10935266241228930","DOIUrl":"10.1177/10935266241228930","url":null,"abstract":"Introduction: Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous malformations. We observed that BRBNS lesions express immunohistochemical markers of lymphatic differentiation.Methods: BRBNS histopathologic specimens assessed at our institution during the past 27 years were reviewed. Slides from 19 BRBNS lesions were selected from 14 patients (9 cutaneous, 9 gastrointestinal, and 1 hepatic). We recorded the involved anatomical compartments and presence/absence of thrombi or vascular smooth muscle. Immunohistochemical endothelial expression of PROX1 (nuclear) and D2-40 (membranous/cytoplasmic) was evaluated semi-quantitatively.Results: Endothelial PROX1 immunopositivity was noted in all specimens; the majority (89.5%) demonstrated staining in more than 10% of cells. D2-40 immunopositivity was present in one-third (33%) of cutaneous lesions and only 1 gastrointestinal lesion.Conclusion: Endothelial cells in BRBNS almost always express 1 or more immunohistochemical markers of lymphatic differentiation.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"228-234"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186326","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

Rising Prevalence of Mild Chronic Gastritis in Children: A Single Center Experience. 儿童轻度慢性胃炎发病率上升：单中心经验

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-03-28 DOI: 10.1177/10935266241238625

Rohit Josyabhatla, Mary Lauren Wood, Amber Gafur, Nina Tatevian, Amanda S Tchakarov, Syed Shahrukh Hashmi, Jon Marc Rhoads, Melissa Renee Van Arsdall

{"title":"Rising Prevalence of Mild Chronic Gastritis in Children: A Single Center Experience.","authors":"Rohit Josyabhatla, Mary Lauren Wood, Amber Gafur, Nina Tatevian, Amanda S Tchakarov, Syed Shahrukh Hashmi, Jon Marc Rhoads, Melissa Renee Van Arsdall","doi":"10.1177/10935266241238625","DOIUrl":"10.1177/10935266241238625","url":null,"abstract":"Objectives and methods: We analyzed upper endoscopic and histological findings in 3 cohorts of children undergoing upper gastrointestinal endoscopy over a 10-year period. Five hundred seventy-nine patients were identified, with 244 (42%), 199 (35%), and 136 (23%) in the 2011, 2015, and 2019 cohorts, respectively. The most common symptoms and signs were abdominal pain, vomiting, failure to thrive, and diarrhea.Results: The number of patients who had histological evidence of chronic gastritis increased from 2011 (n = 70, 29%) to 2015 (n = 106, 53%) and 2019 (n = 92, 68%; P < .001). The prevalence of \"normal\" endoscopic gastric findings was higher in controls (n = 247, 90%) compared to cases (n = 201, 76%; P < .001). There was a small but statistically significant difference in endoscopic esophageal grading (P = .008) over time, with lower grades being more prevalent in 2011 compared to 2015 (P = .026) and 2019 (P = .001). Crude comparisons of the predictors (sex, weight percentile, payor type, month of endoscopy, symptom duration, PPI exposure, and endoscopic stomach findings) yielded no difference between cases and controls.Conclusions: There has been a significant rise in the prevalence of mild chronic gastritis or non-specific gastritis over the last decade in our population.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"235-240"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319933","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

Wilms Tumor With Raised Serum Alpha-Fetoprotein: Highlighting the Need for Novel Circulating Biomarkers. Wilms 肿瘤伴有血清甲胎蛋白升高：凸显对新型循环生物标志物的需求

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2023-12-14 DOI: 10.1177/10935266231213467

Rebecca Green, Adeeb Ahmed, Ben Fleming, Anna-May Long, Sam Behjati, Jamie Trotman, Patrick Tarpey, James C Nicholson, Nicholas Coleman, C Elizabeth Hook, Matthew J Murray

{"title":"Wilms Tumor With Raised Serum Alpha-Fetoprotein: Highlighting the Need for Novel Circulating Biomarkers.","authors":"Rebecca Green, Adeeb Ahmed, Ben Fleming, Anna-May Long, Sam Behjati, Jamie Trotman, Patrick Tarpey, James C Nicholson, Nicholas Coleman, C Elizabeth Hook, Matthew J Murray","doi":"10.1177/10935266231213467","DOIUrl":"10.1177/10935266231213467","url":null,"abstract":"Wilms tumor (WT) is the commonest cause of renal cancer in children. In Europe, a diagnosis is made for most cases on typical clinical and radiological findings, prior to pre-operative chemotherapy. Here, we describe a case of a young boy presenting with a large abdominal tumor, associated with raised serum alpha-fetoprotein (AFP) levels at diagnosis. Given the atypical features present, a biopsy was taken, and histology was consistent with WT, showing triphasic WT, with epithelial, stromal, and blastemal elements present, and positive WT1 and CD56 immunohistochemical staining. During pre-operative chemotherapy, serial serum AFP measurements showed further increases, despite a radiological response, before a subsequent fall to normal following nephrectomy. The resection specimen was comprised of ~55% and ~45% stromal and epithelial elements, respectively, with no anaplasia, but immunohistochemistry using AFP staining revealed positive mucinous intestinal epithelium, consistent with the serum AFP observations. The lack of correlation between tumor response and serum AFP levels in this case highlights a more general clinical unmet need to identify WT-specific circulating tumor markers.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"260-265"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812764","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

Addressing Chatbots as Artificial Intelligence Aids in Pediatric Pathology. 讨论聊天机器人在儿科病理学中的人工智能辅助。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2023-11-19 DOI: 10.1177/10935266231212340

Casey Schukow, Van-Hung Nguyen

引用次数: 0

Renal Pathology of Ciliopathies 纤毛虫病的肾脏病理学

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-04-15 DOI: 10.1177/10935266241242173

Thivya Sekar, Neil J. Sebire

{"title":"Renal Pathology of Ciliopathies","authors":"Thivya Sekar, Neil J. Sebire","doi":"10.1177/10935266241242173","DOIUrl":"https://doi.org/10.1177/10935266241242173","url":null,"abstract":"Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":"23 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591267","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

Syndecan-1 Level, a Marker of Endothelial Glycocalyx Degradation, Is Associated With Fetal Exposure to Chorioamnionitis and Is a Potential Biomarker for Early-Onset Neonatal Sepsis 内皮细胞糖萼降解标志物 Syndecan-1 的水平与胎儿绒毛膜羊膜炎相关，是早发新生儿败血症的潜在生物标志物

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-04-15 DOI: 10.1177/10935266241235504

Michaela O’Neil, Sasha K. Demeulenaere, Phillip J. DeChristopher, Emily Holthaus, Walter Jeske, Loretto Glynn, Aliya Husain, Jonathan Muraskas

{"title":"Syndecan-1 Level, a Marker of Endothelial Glycocalyx Degradation, Is Associated With Fetal Exposure to Chorioamnionitis and Is a Potential Biomarker for Early-Onset Neonatal Sepsis","authors":"Michaela O’Neil, Sasha K. Demeulenaere, Phillip J. DeChristopher, Emily Holthaus, Walter Jeske, Loretto Glynn, Aliya Husain, Jonathan Muraskas","doi":"10.1177/10935266241235504","DOIUrl":"https://doi.org/10.1177/10935266241235504","url":null,"abstract":"The goal of this investigation was to identify the association between Syndecan-1 (S1) serum levels in preterm newborns exposed to chorioamnionitis (CA) in utero and the potential of S1 as a biomarker of early-onset neonatal sepsis. A cohort of preterm newborns born <33 weeks gestational age was recruited. Within 48 hours of birth, 0.5 mL of blood was drawn to obtain S1 levels, measured via ELISA. Placentas were examined and classified as having (1) no CA, (2) CA without umbilical cord involvement, or (3) CA with inflammation of the umbilical cord (funisitis). S1 levels were compared between preterm newborns without exposure to CA verus newborns with exposure to CA (including with and without funisitis). Preterm newborns exposed to CA were found to have significantly elevated S1 levels compared to those unexposed. Although S1 levels could not differentiate fetal exposure to CA from exposure to CA with funisitis, the combined CA groups had significantly higher S1 levels compared to those not exposed to CA. S1 level has the potential to become a clinically useful biomarker that could assist in the management of mothers and preterm newborns with CA and funisitis. Furthermore, S1 level could aid in the diagnosis and treatment of early-onset neonatal sepsis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":"5 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140591842","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

Reply to: “Addressing Chatbots as Artificial Intelligence Aids in Pediatric Pathology” 回复"将聊天机器人作为人工智能辅助工具应用于儿科病理学"

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-04-15 DOI: 10.1177/10935266241237904

Ananda van der Kamp, Tomas J. Waterlander, Thomas de Bel, Jeroen van der Laak, Marry M. van den Heuvel-Eibrink, Annelies M. C. Mavinkurve-Groothuis, Ronald R. de Krijger

引用次数: 0