Pediatric and Developmental Pathology最新文献_第2页

The Variable Definition of "Negative Appendicitis" Remains a Surgical Challenge. 阴性阑尾炎 "的多变定义仍是外科手术的挑战。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-06-06 DOI: 10.1177/10935266241255281

Hetal Patel, Mohamed Kamel, Eden Cooper, Claire Bowen, Ingo Jester

{"title":"The Variable Definition of \"Negative Appendicitis\" Remains a Surgical Challenge.","authors":"Hetal Patel, Mohamed Kamel, Eden Cooper, Claire Bowen, Ingo Jester","doi":"10.1177/10935266241255281","DOIUrl":"10.1177/10935266241255281","url":null,"abstract":"Aim: Acute appendicitis (AA) is treated primarily surgically with histopathology being the gold standard for confirmation of appendicitis and reported rates of negative appendicectomies (NA) ranging between 3.2% and 19% worldwide and 15.9-20.6% in the UK. NA rates are frequently used to identify poor performing centers as part of a Model Health System and form an integral part of appendicitis scoring systems. This study aims to evaluate the prevalence of negative appendicectomies within our institution and critically analyze the appropriateness of its use as a quality metric and its impact on clinical practice and research.Patients and methods: Data analysis from a prospective dataset of pediatric appendicitis patients between 2015 and 2021 in a tertiary center in the UK was performed. Detailed analysis of negative appendicectomies was performed and further stratified by two distinct age and gender groups looking at the incidence of NA and the classification of non-histologically normal appendix specimens.Results: In our series, 819 patients met inclusion criteria, 736 (89.9%) had acute appendicitis. Our overall institutional negative appendicectomy rate was 10.1% (83 patients) with the breakdown as follows: 65 histologically normal appendix (7.9%), 10 Enterobius vermicularis, 3 eosinophilic appendicitis, 2 neoplasms, 1 isolated faecolith, 1 fibrous obliteration of the lumen, and 1 peri-appendiceal inflammation.Conclusion: Our negative appendicectomy rate is below established UK pediatric NA rates. This rate ranges from 7.9% to 10.1% depending on the definition of NA utilized. A single standard pathological definition for histological acute appendicitis is required when being used as a comparative quality metric. Centers engaged in clinical research should be aware of variations in NA definitions both in scoring systems and individual centers to avoid skewing derived results.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"552-558"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285442","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 : 2024-11-01 Epub Date: 2024-07-26 DOI: 10.1177/10935266241264603

Sumit Das

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 : 2024-11-01 Epub 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":"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":" ","pages":"603-607"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","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

Umbilical Cord Hemangiomas: A Multi-Institutional Case Series With Literature Review. 脐带血管瘤：多机构病例系列及文献综述

IF 16.4 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-07-26 DOI: 10.1177/10935266241264161

Elizabeth O Ferreira, Camelia Stefanovici, Stefan Kostadinov, Virginia Duncan

{"title":"Umbilical Cord Hemangiomas: A Multi-Institutional Case Series With Literature Review.","authors":"Elizabeth O Ferreira, Camelia Stefanovici, Stefan Kostadinov, Virginia Duncan","doi":"10.1177/10935266241264161","DOIUrl":"10.1177/10935266241264161","url":null,"abstract":"Umbilical cord hemangiomas are rare lesions, for which data on pregnancy outcome is lacking. This study combines a multi-institution 4-case series with a systematic literature search (n = 52) to determine possible pathologic lesion parameters which may have an effect on pregnancy outcome. Of all 56 pregnancies, lesion size ranged from 0.2 to 23.0 cm with pregnancy outcomes ranging from healthy liveborns (58.9%), liveborns with severe complications largely due to prematurity and/or fluid overload (12.5%), intrauterine/neonatal demise (25.0%), and pregnancy termination (3.6%). Of the 52 cases included for statistical analysis, there was no significant association between fetal outcome and vascular lesion location (P = .12) or fetal outcome and single umbilical artery involvement versus involvement of other vasculature (P = .29). The mean length of vascular lesions that resulted in healthy liveborns did not significantly differ from those resulting in severe fetal complications and/or demise (P = .72). Cases resulting in severe complications and/or demise were significantly earlier at delivery than those resulting in healthy liveborns (P < .001). Combined findings suggest that functional lesion characteristics, such as the degree of turbulent flow generated, have more significance than size, especially in early gestation losses. Moving forward, standardized reporting of pathologic lesion characteristics is paramount to better predict pregnancy prognosis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"569-575"},"PeriodicalIF":16.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762625","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

Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location. 原发性骨内纺锤细胞横纹肌肉瘤：罕见部位的病例报告

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-06-06 DOI: 10.1177/10935266241257547

Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider

{"title":"Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location.","authors":"Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider","doi":"10.1177/10935266241257547","DOIUrl":"10.1177/10935266241257547","url":null,"abstract":"Spindle cell/sclerosing rhabdomyosarcoma is an infrequent subtype of rhabdomyosarcoma according to the World Health Organization Classification of Soft Tissue and Bone Tumours, which includes a novel category of intraosseous spindle-cell rhabdomyosarcomas (ISCRMS) with EWSR1:: or FUS::TFCP2 fusions. We report a case of ISCRMS with EWSR1::TFCP2 fusion presenting in the femur mimicking osteosarcoma in this unusual primary location. We present an 18-year-old male with relapsed widely metastatic sarcoma, morphologically identical to osteosarcoma responding poorly to chemotherapy, initially presenting in the distal femur. Sections showed a high-grade malignant neoplasm with sheets of epithelioid and spindled cells without obvious rhabdomyoblastic differentiation morphologically containing focal areas resembling new bone/osteoid formation. Molecular sequencing identified t(12;22) EWSR1::TFCP2. The tumor cells were diffusely positive for pancytokeratin, MyoD1, and ALK by retrospective immunohistochemistry. Desmin and SATB2 were focally positive. Myogenin was negative, and INI-1 expression was retained. ISCRMS commonly involves craniofacial and pelvic bones, but rarely originates in long bones, as in this case. Initially, osteosarcoma was the primary diagnostic consideration based on distal long bone location, patient age, and evidence of osteoid formation. Distinction between the two entities may be nearly impossible on morphologic grounds alone, which presents a diagnostic pitfall without molecular or extensive immunoprofiling data.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"597-602"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285441","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

The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly. 胎儿爱博斯坦畸形的解剖基础与临床严重程度之间的联系

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-05-19 DOI: 10.1177/10935266241250235

Sara Coacci, Erin L J Alston, Takato Yamasaki, Christina Ronai, Stephen P Sanders, Chrystalle Katte Carreon

引用次数: 0

Decreased Alpha Klotho Expression in Placentas Exposed to Severe Maternal Vascular Malperfusion. 受严重母体血管灌注不良影响的胎盘中 Alpha Klotho 表达减少

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-06-22 DOI: 10.1177/10935266241259346

Andrew Franklin, Alexa Freedman, Ann Borders, Lauren Keenan Devlin, Erin S Proctor, Erica Price, Steve Cole, Greg Miller, Linda M Ernst

{"title":"Decreased Alpha Klotho Expression in Placentas Exposed to Severe Maternal Vascular Malperfusion.","authors":"Andrew Franklin, Alexa Freedman, Ann Borders, Lauren Keenan Devlin, Erin S Proctor, Erica Price, Steve Cole, Greg Miller, Linda M Ernst","doi":"10.1177/10935266241259346","DOIUrl":"10.1177/10935266241259346","url":null,"abstract":"Background: Placental maternal vascular malperfusion (MVM) is characterized by accelerated villous maturation and has been associated with a decrease in the antiaging protein, alpha-klotho (AK). Our aim was to characterize AK protein and gene expression in the placenta and fetal organs.Methods: We utilized 2 cohorts. First, we characterized AK protein expression in an autopsy cohort where cases were defined as MVM as the cause of fetal death compared to a stillborn control population. Second, we characterized placental and umbilical cord blood AK gene expression in a liveborn population with and without MVM.Results: We found decreased protein expression in the villous trophoblastic cells of placentas exposed to severe MVM and decreased AK gene expression in placental tissue exposed to MVM. We did not see any statistically significant differences in fetal organ or umbilical cord blood AK expression based on the presence or absence of MVM. Furthermore, in liveborn infants, we also found increased odds of preterm birth with lower placental AK expression.Conclusions: Decreased AK gene and protein expression in the placenta in the setting of MVM is consistent with the theory of placental aging in MVM and is associated with increased odds of preterm birth.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"559-568"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441122","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 : 2024-11-01 Epub 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":"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":" ","pages":"545-551"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","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

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 : 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":"https://doi.org/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":"10935266241284949"},"PeriodicalIF":1.3,"publicationDate":"2024-10-23","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

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 : 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":"https://doi.org/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":"10935266241288869"},"PeriodicalIF":1.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0