Fetal and Pediatric Pathology最新文献_第9页

Pathologist Pediatric In-Patient Genetic Stewardship. 病理学家儿科患者基因管理。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2263790

Randall Craver

引用次数: 0

Giant Congenital Melanocytic Nevus with Congenital Neurofibroma: A Case Report. 巨大先天性黑素细胞痣合并先天性神经纤维瘤1例。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-08-16 DOI: 10.1080/15513815.2023.2244582

Atreyee Sarkar, Debalina Karmakar, Jayanta Kumar Saha, Kalyani Saha Basu, Uttara Chatterjee, Koushik Saha, Deepak K Mishra

引用次数: 0

ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease. NGS鉴定Wilson病ATP7B基因变异图谱。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2260005

Orhan Gorukmez, Taner Özgür, Ozlem Gorukmez, Ali Topak

引用次数: 0

Placental Histopathologic Findings in the Setting of Prenatally Diagnosed Major Congenital Heart Disease. 产前诊断为重大先天性心脏病的胎盘组织病理学表现。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2266489

Shaimaa Rakha, Alhussein Ahmed Mohamed, Shaimaa M Yussif

{"title":"Placental Histopathologic Findings in the Setting of Prenatally Diagnosed Major Congenital Heart Disease.","authors":"Shaimaa Rakha, Alhussein Ahmed Mohamed, Shaimaa M Yussif","doi":"10.1080/15513815.2023.2266489","DOIUrl":"10.1080/15513815.2023.2266489","url":null,"abstract":"Objectives: Studies suggest an association between placenta and congenital heart disease (CHD). We evaluated placental pathologies associated with major CHD. Methods: A prospective study included fetuses with major CHD, identified by fetal echocardiography. Fetal Doppler of umbilical artery (UA), middle cerebral artery (MCA), and placental histopathology were assessed. Outcome was measured by mortality at one month of age. Results: 21 cases were analyzed. Hypoplastic left heart syndrome was the commonest lesion (23.8%). Significant differences were detected among categories regarding MCA systolic/diastolic (S/D) ratio & pulsatility index (p = 0.023; 0.036), respectively. Placental histopathologies were demonstrated in 18(85.7%), predominately involved fetal malperfusion lesions 16/21(76.2%), especially chorangiosis (33.3%). No significant association was detected between placental histopathological abnormalities and Doppler parameter, diagnostic category, or mortality. Conclusion: The high prevalence of abnormal placental histopathological findings in major fetal CHD provides additional evidence of placental-cardiac interlinkage. No association was detected between abnormal placental histopathology and fetal Doppler measurements or neonatal outcome of CHD.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"922-935"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219179","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

Assessing Intrauterine Retention according to Microscopic Stillbirth Features: A Cluster Analysis Approach. 根据显微死产特征评估宫内保留:聚类分析方法。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-08-12 DOI: 10.1080/15513815.2023.2246571

Tess E K Cersonsky, George R Saade, Robert M Silver, Uma M Reddy, Donald J Dudley, Halit Pinar

{"title":"Assessing Intrauterine Retention according to Microscopic Stillbirth Features: A Cluster Analysis Approach.","authors":"Tess E K Cersonsky, George R Saade, Robert M Silver, Uma M Reddy, Donald J Dudley, Halit Pinar","doi":"10.1080/15513815.2023.2246571","DOIUrl":"10.1080/15513815.2023.2246571","url":null,"abstract":"Background: Previous studies identified microscopic changes associated with intrauterine retention of stillbirths based on clinical time of death. The objective of this study was to utilize unsupervised machine learning (not reliant on subjective measures) to identify features associated with time from death to delivery. Methods: Data were derived from the Stillbirth Collaborative Research Network. Features were chosen a priori for entry into hierarchical cluster analysis, including fetal and placental changes. Results: A four-cluster solution (coefficient = 0.983) correlated with relative time periods of \"no retention,\" \"mild retention,\" \"moderate retention,\" and \"severe retention.\" Loss of nuclear basophilia within fetal organs were found at varying rates among these clusters. Conclusions: Hierarchical cluster analysis is able to classify stillbirths based on histopathological changes, roughly correlating to length of intrauterine retention. Such clusters, which rely solely on objective fetal and placental findings, can help clinicians more accurately assess the interval from death to delivery.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"860-869"},"PeriodicalIF":0.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10843727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9970748","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

The Importance of Sphingomyelin Phosphodiesterase Acid-Like 3b (SMPDL-3b) Levels in Kidney Biopsy Specimens of Children With Nephrotic Syndrome. 鞘氨醇磷酸二酯酶类3b（SMPDL-3b）水平在肾病综合征儿童肾脏活检标本中的重要性。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2267683

Muhammet Kaya, İlknur Girişgen, Nagihan Yalçın, Tülay Becerir, Hande Şenol, Gülsün Gülten, Selcuk Yüksel

{"title":"The Importance of Sphingomyelin Phosphodiesterase Acid-Like 3b (SMPDL-3b) Levels in Kidney Biopsy Specimens of Children With Nephrotic Syndrome.","authors":"Muhammet Kaya, İlknur Girişgen, Nagihan Yalçın, Tülay Becerir, Hande Şenol, Gülsün Gülten, Selcuk Yüksel","doi":"10.1080/15513815.2023.2267683","DOIUrl":"10.1080/15513815.2023.2267683","url":null,"abstract":"Objective: It remains unclear whether the low amount of SMPDL-3b required for rituximab binding is the cause of treatment resistance in patients with treatment-resistant nephrotic syndrome with advanced podocyte injury. Given the limited number of studies on the relationship between rituximab and SMPDL-3b, this study was conducted to assess whether SMPDL-3b levels in pretreatment renal biopsy specimens can be used to predict the clinical effectiveness of immunosuppressive drugs, especially rituximab, in children with nephrotic syndrome.Methods: Kidney biopsy specimens from 44 patients diagnosed with idiopatic nephrotic syndrome were analyzed using immunohistochemical staining with an anti-SMPDL-3b antibody and real-time polymerase chain reaction (PCR) for SMPDL-3b mRNA expression.Results: We showed that SMPDL-3b mRNA expression and anti-SMPDL-3b antibody staining did not differ significantly between the patient groups with different responses to immunosuppressive therapies.Conclusion: Our results suggest that SMPDL-3b may actually be an indicator of disease progression rather than a marker for predicting response to a particular immunosuppressive agent.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"936-949"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219180","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

Placental Syphilis: A Comprehensive Review of Routine Histomorphology, HIV Co-infection, Penicillin Treatment, Immunohistochemistry, and Polymerase Chain Reaction. 胎盘梅毒:常规组织形态学、HIV合并感染、青霉素治疗、免疫组织化学和聚合酶链反应的综合综述。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-09-05 DOI: 10.1080/15513815.2023.2253309

Yolandi Anne Marais, Deidré Mason, Annelize Barnard, Chestley Rashaell Saaiman, Hester Christine Els, Judith Kluge, Allison Joy Glass, Colleen Anne Wright, Pawel Tomasz Schubert

{"title":"Placental Syphilis: A Comprehensive Review of Routine Histomorphology, HIV Co-infection, Penicillin Treatment, Immunohistochemistry, and Polymerase Chain Reaction.","authors":"Yolandi Anne Marais, Deidré Mason, Annelize Barnard, Chestley Rashaell Saaiman, Hester Christine Els, Judith Kluge, Allison Joy Glass, Colleen Anne Wright, Pawel Tomasz Schubert","doi":"10.1080/15513815.2023.2253309","DOIUrl":"10.1080/15513815.2023.2253309","url":null,"abstract":"Introduction: Placental examination is valuable for diagnosing congenital syphilis, but the classic histological triad is not always observed. This study aimed to identify additional morphological clues, evaluate the sensitivity of IHC and qPCR, and investigate the impact of HIV co-infection and penicillin treatment on placental morphology. Materials and methods: Two hundred and fifteen placental specimens with treponemal infection were reviewed. Morphological findings, IHC, and qPCR results were analyzed. Results: Chronic villitis (94%), acute chorioamnionitis (91.6%), and villous immaturity (65.6%) were the most common abnormalities. HIV co-infection and penicillin treatment were associated with reduced frequencies of inflammatory lesions. IHC and qPCR exhibited sensitivities of 74.4 and 25.8%, respectively, confirming the diagnosis in 42 cases with negative or unknown serology. Conclusion: Villitis, chorioamnionitis, and villous immaturity were identified as the predominant placental abnormalities. HIV co-infection and penicillin treatment can impact morphology and hamper the diagnosis. IHC and q-PCR are valuable adjuncts when serology is negative.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"870-890"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10155845","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 Placenta and Neonatal Encephalopathy with a Focus on Hypoxic-Ischemic Encephalopathy. 胎盘和新生儿脑病，重点是缺氧缺血性脑病。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2261051

Louis P Dehner

引用次数: 0

Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings. 产前阵列CGH检测包含SOX2基因的3q26.32q26.33间质缺失：超声、病理和细胞遗传学发现。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-12-01 Epub Date: 2023-11-22 DOI: 10.1080/15513815.2023.2261043

Maria Paola Bonasoni, Giuseppina Comitini, Mariangela Pati, Veronica Bizzarri, Veronica Barbieri, Maria Marinelli, Stefano Giuseppe Caraffi, Roberta Zuntini, Marzia Pollazzon, Andrea Palicelli, Livia Garavelli

{"title":"Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.","authors":"Maria Paola Bonasoni, Giuseppina Comitini, Mariangela Pati, Veronica Bizzarri, Veronica Barbieri, Maria Marinelli, Stefano Giuseppe Caraffi, Roberta Zuntini, Marzia Pollazzon, Andrea Palicelli, Livia Garavelli","doi":"10.1080/15513815.2023.2261043","DOIUrl":"10.1080/15513815.2023.2261043","url":null,"abstract":"Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation. Histologically, the left lung showed congenital pulmonary airway malformation (CPAM) type 2. Retinal dysplasia was found in both eyes. Discussion/Conclusion: The human SOX2 gene (OMIM #184429) is located on chromosome 3 at position q26.3-27 and encodes a transcription factor involved in the development of the central and peripheral nervous systems, retina, and lung. In our case, the combination of cerebral, retinal, and pulmonary anomalies, not previously described, are consistent with SOX2 haploinsufficiency due to chromosomal deletion.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"979-989"},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41162109","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

Rearrangement of KMT2A Characterizes a Subset of Pediatric Parotid Mucoepidermoid Carcinomas Arising Metachronous to Acute Lymphoblastic Leukemia. KMT2A的重排是儿童腮腺粘液表皮样癌亚群的特征，该亚群与急性淋巴细胞白血病发生时间间隔。

IF 1.1 4区医学

Fetal and Pediatric Pathology Pub Date : 2023-10-01 Epub Date: 2023-07-30 DOI: 10.1080/15513815.2023.2241903

Bacem K Othman, Petr Steiner, Ilmo Leivo, Alena Skálová

{"title":"Rearrangement of KMT2A Characterizes a Subset of Pediatric Parotid Mucoepidermoid Carcinomas Arising Metachronous to Acute Lymphoblastic Leukemia.","authors":"Bacem K Othman, Petr Steiner, Ilmo Leivo, Alena Skálová","doi":"10.1080/15513815.2023.2241903","DOIUrl":"10.1080/15513815.2023.2241903","url":null,"abstract":"Introduction: Metachronous mucoepidermoid carcinomas (MMEC) may occur in association with childhood leukemias and lymphomas. We compared molecular abnormalities of MMEC in patients with ALL with the abnormalities found in primary mucoepidermoid carcinomas (MECs) in pediatric cases and young adults. Materials and methods: Immunohistochemical stains for p63 and SOX10, molecular alterations in MAML2 and KMT2A genes detected by FISH and/or next-generation sequencing were studied in 12 pediatric MMECs secondary to ALL and six primary MECs in pediatric patients and young adults. Follow-up information of patients in both groups was obtained. Results: KMT2A rearrangements were detected in pediatric MMECs, and they were associated with remarkable histomorphological changes, including deposits of abundant stromal collagen and intratumoral lymphoid proliferations. No KMT2A rearrangements were found in primary MECs. The prognosis of MMEC in patients with ALL, especially in KMT2A-rearranged cases, was worse than in primary MECs. Kruskal-Wallis test showed a statistically significant difference in overall survival between KMT2A-rearranged MMECs and KMT2A-intact MMECs in cases with ALL (p = 0.027). Conclusion: KMT2A-rearranged MMECs in ALL patients may have inherently more aggressive behavior, even when the histomorphology of MMEC suggests a low-grade malignancy.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"42 5","pages":"796-807"},"PeriodicalIF":1.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10305449","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: 1