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Pediatric and Developmental Pathology

B J van der Knoop, J P van der Voorn, Pgj Nikkels, I A Zonnenberg, M M van Weissenbruch, R J Vermeulen, Jip de Vries
Objective Trauma in pregnancy may cause placental abruption. Consequences of moderate placental injury on neurodevelopment are unknown. The aim was to evaluate placental histology after maternal trauma. Methods A prospective study was conducted at 2 tertiary medical centers in the Netherlands. Placentas from women exposed to maternal trauma ≥ 20 weeks' gestational age were histologically examined. Neurological follow-up of the infants was performed at 1 year of age by means of Alberta Infant Motor Scale...
September 12, 2018: Pediatric and Developmental Pathology
Aude Tessier, Patrick Callier, Nathalie LeMeur, Thierry Frebourg, Jean-Christophe Sabourin, Sophie Patrier
We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.
September 7, 2018: Pediatric and Developmental Pathology
Claire Hemedez, Elizabeth Trail-Burns, Quanfu Mao, Sharon Chu, Sunil K Shaw, Joseph M Bliss, Monique E De Paepe
Introduction/Objectives Non- albicans Candida species such as Candida parapsilosis and Candida glabrata have emerged as prevalent pathogens in premature infants. The aim of this study was to systematically delineate the histopathologic findings in neonatal non- albicans candidiasis. Methods We performed a retrospective clinicopathologic analysis of extremely premature (23-28 weeks' gestation) infants diagnosed with invasive candidiasis. Archival autopsy tissues were subjected to periodic acid-Schiff, methenamine-silver and anti- Candida (immuno)histochemical stains, as well as dual anti- Candida and anti-cytokeratin or anti-CD31 immunofluorescence assays...
September 7, 2018: Pediatric and Developmental Pathology
Henning Feist, Gitta Turowski, Kais Hussein, Thordis Blöcker, Albert Heim
Massive perivillous fibrin deposition (MFD) is a morphologically defined severe placental lesion associated with perinatal morbidity and mortality. The etiology is unknown, and recurrence risk in subsequent pregnancies is assumed to be high. In most cases, a pathologic immune reaction is supposed to be responsible for the lesion. We report a case of a pregnant woman's suffering from hand, foot, and mouth disease in the 20th gestational week. Subsequently, MFD developed in the placenta and was followed by intrauterine growth restriction and stillbirth in the 29th gestational week...
September 7, 2018: Pediatric and Developmental Pathology
Konstantinos S Mylonas, Chia-Sui Kao, David Levy, Leonardo Lordello, Paola Dal Cin, Peter T Masiakos, Esther Oliva
Chromosome 12p gains are typically present in postpubertal male patients with testicular malignant germ cell tumors, including most teratomas, and absent in pure ovarian teratomas, both mature and immature. We sought to evaluate the clinicopathologic features and chromosome 12p status of pediatric patients with sacrococcygeal teratomas (SCTs) using the institutional databases of 2 tertiary medical centers. Seven mature teratomas (3 pure, 2 with yolk sac tumor, 1 with medulloepithelioma, and 1 with ependymoma) and 3 immature teratomas (2 pure: grade 2 and grade 3 and 1 mixed: grade 3 with yolk sac tumor) were identified...
September 3, 2018: Pediatric and Developmental Pathology
Rajendra Gharbaran, Latchman Somenarain
Although the World Health Organization declared an end to the recent Zika virus (ZIKV) outbreak and its association with adverse fetal and pediatric outcome, on November 18, 2016, the virus still remains a severe public health threat. Laboratory experiments thus far supported the suspicions that ZIKV is a teratogenic agent. Evidence indicated that ZIKV infection cripples the host cells' innate immune responses, allowing productive replication and potential dissemination of the virus. In addition, studies suggest potential transplacental passage of the virus and subsequent selective targeting of neural progenitor cells (NPCs)...
August 27, 2018: Pediatric and Developmental Pathology
James R Wright, Peter B Baker, Hiroyuki Shimada
William A (Bill) Newton Jr practiced pediatric pathology and hematology/oncology at Children's Hospital of Columbus, Ohio, for over 40 years starting in 1952. Newton was an original member of the Pediatric Pathology Club, which preceded the Society for Pediatric Pathology, and was its president from 1968 to 1969. He published important independent observations in pediatric pathology, helped establish systematic cooperative pediatric tumor pathology review by experts, became an acclaimed expert on the diagnosis of rhabdomyosarcoma, was a critical contributor to many pediatric oncology clinical trials, made important early contributions to tumor banking in pediatrics, and trained numerous pediatric pathology and pediatric oncology fellows...
August 20, 2018: Pediatric and Developmental Pathology
Raniah Al Qawahmed, Sarah L Sawyer, Michael Vassilyadi, Wen Qin, Kym M Boycott, Jean Michaud
Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal organs. It most commonly affects the head and neck of infants and young children, but it can also affect adults. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. Recently, it has been demonstrated that germline and somatic mutations in the platelet-derived growth factor receptor beta (PDGFRB) are associated with familial infantile myofibromatosis...
August 13, 2018: Pediatric and Developmental Pathology
Javal Sheth, Anthony Arnoldo, Yunan Zhong, Paula Marrano, Carlos Pereira, Scott Ryall, Paul Thorner, Cynthia Hawkins, Gino R Somers
Background NanoString technology is an innovative barcode-based system that requires less tissue than traditional techniques and can test for multiple fusion transcripts in a single reaction. The objective of this study was to determine the utility of NanoString technology in the detection of sarcoma-specific fusion transcripts in pediatric sarcomas. Design Probe pairs for the most common pediatric sarcoma fusion transcripts were designed for the assay. The NanoString assay was used to test 22 specific fusion transcripts in 45 sarcoma samples that had exhibited one of these fusion genes previously by reverse transcription polymerase chain reaction (RT-PCR)...
August 8, 2018: Pediatric and Developmental Pathology
Debra S Heller, Matthew P Romagano, Luis Alzate-Duque, Sara Rubenstein, Shauna Williams, Adaora Madubuko, Khalid Algarrahi, Jana M Ritter, Ona Faye-Petersen
No abstract text is available yet for this article.
July 16, 2018: Pediatric and Developmental Pathology
Alexa A Freedman, Carol J Hogue, Carmen J Marsit, Augustine Rajakumar, Alicia K Smith, Robert L Goldenberg, Donald J Dudley, George R Saade, Robert M Silver, Karen J Gibbins, Barbara J Stoll, Radek Bukowski, Carolyn Drews-Botsch
The placenta plays a critical role in regulating fetal growth. Recent studies suggest that there may be sex-specific differences in placental development. The purpose of our study was to evaluate the associations between birthweight and placental morphology in models adjusted for covariates and to assess sex-specific differences in these associations. We analyzed data from the Stillbirth Collaborative Research Network's population-based case-control study conducted between 2006 and 2008, which recruited cases of stillbirth and population-based controls in 5 states...
July 16, 2018: Pediatric and Developmental Pathology
Gilvydas Verkauskas, Dalius Malcius, Darius Dasevicius, Faruk Hadziselimovic
Defective mini-puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The aim of our study was to determine the risk for azoospermia by histologic criteria in a cohort of unilateral cryptorchid boys undergoing orchidopexy and bilateral testicular biopsy. We performed a retrospective analysis of data available in the library of the Cryptorchidism Research Institute, Liestal, Switzerland...
July 16, 2018: Pediatric and Developmental Pathology
Laura Brouwers, Arie Franx, Tatjana E Vogelvang, Michiel L Houben, Bas B van Rijn, Peter Gj Nikkels
Introduction Prepregnancy obesity is a growing global health problem and has several risks for mother and child. The aim of this study was to systematically examine the effect of increased maternal body mass index (BMI) on placental pathology in otherwise uneventful term pregnancies. Methods In this analysis, we studied data of the Netherlands Amniotic Fluid study, a prospective study of women delivering in Utrecht, the Netherlands, between 2006 and 2007. We included women with uncomplicated pregnancies, vaginal delivery, and data on prepregnancy weight and height (n = 382)...
July 3, 2018: Pediatric and Developmental Pathology
Michael S Toce, Michael Farias, Andrew J Powell, Kevin P Daly, Sara O Vargas, Michele M Burns
Many reports of marijuana-associated myocardial infarct (MI) are limited by incomplete evaluation of the toxicologic exposure, a lack of definitive anatomic findings, and the potential for comorbid coronary atherosclerosis inherent in an adult population. We report a 16-year-old adolescent boy who presented with chest pain after smoking marijuana and was found to have acute MI. Electrocardiogram showed diffuse ST-segment elevations. Exhaustive toxicologic testing confirmed the presence of Δ-9-tetrahydrocannabinol metabolite and ruled out other drugs of abuse...
June 29, 2018: Pediatric and Developmental Pathology
Serena Y Tan, Linda J Szymanski, Carlos Galliani, David Parham, Eduardo Zambrano
Pathological diagnosis of solitary fibrous tumor (SFT) in the pediatric population is challenging, as it occurs uncommonly in this age-group and resembles other spindle cell neoplasms. SFT contains a NAB2-STAT6 fusion gene, which can be reliably detected using STAT6 immunohistochemistry. Positive staining is highly sensitive and specific. We sought to investigate the utility of STAT6 immunohistochemistry, to show how commonly SFT was historically recognized at 3 academic pediatric institutions, to reclassify them when appropriate, and to demonstrate features of major mimics of SFT...
July 2018: Pediatric and Developmental Pathology
Bonnie L Cole, Colin C Pritchard, Maia Anderson, Sarah Es Leary
Pediatric brain tumors cause more deaths than any other childhood malignancy, and the identification of potentially actionable genomic alterations in this rare heterogeneous group of tumors may improve treatment and outcome. The genetic landscape of common posterior fossa tumors has been described in the past several years, yet the classification of malignant pediatric supratentorial tumors remains controversial. Next-generation sequencing (NGS) is a promising tool to evaluate multiple genes concurrently. The clinical utility of NGS has not been proven in pediatric brain tumors...
July 2018: Pediatric and Developmental Pathology
Rachel Wyand, Stewart F Cramer, Assaf Oshri, Debra S Heller
Objectives Diagnosed clinical abruption showing blood clot should be signed out in the pathology report as retroplacental hemorrhage with or without parenchymal indentation, and submitted clot separate from the placenta should be weighed. In our experience, some cases sent as clinical abruptions have been cases of morbid adherence. This study was undertaken to evaluate the association of retroplacental blood with basal plate myofibers (BPMF). Methods One hundred fifty-six placentas reviewed by a board-certified pediatric pathologist at a community hospital were evaluated for significant retroplacental blood...
July 2018: Pediatric and Developmental Pathology
Ameet I Thaker, Raj P Kapur
Background Smooth muscle differentiation ("adventitial fibromuscular dysplasia," AFD) was purported as specific to arteries in the transition zone of Hirschsprung disease (HSCR) patients. We investigated AFD in an HSCR population and controls and consider the pathogenesis and significance of the vascular pathology. Design Vascular histology in sections from colonic HSCR resections (n = 55) was compared with age- and site-matched controls with (n = 19) and without (n = 28) non-HSCR obstructive conditions...
July 2018: Pediatric and Developmental Pathology
Tatjana Terzic, Martine Cordeau, Sabine Herblot, Pierre Teira, Sonia Cournoyer, Mona Beaunoyer, Michel Peuchmaur, Michel Duval, Herve Sartelet
Neuroblastoma, a malignant neoplasm of the sympathetic nervous system, is one of the most aggressive pediatric cancers. Patients with stage IV high-risk neuroblastoma receive an intensive multimodal therapy ending with an immunotherapy based on a chimeric monoclonal antibody ch14.18. Although the use of ch14.18 monoclonal antibody has significantly increased the survival rate of high-risk neuroblastoma patients, about 33% of these patients still relapse and die from their disease. Ch14.18 targets the disialoganglioside, GD2, expressed on neuroblastic tumor (NT) cells...
July 2018: Pediatric and Developmental Pathology
Mikako Warren, Hiroyuki Shimada
Background Chronic granulomatous disease (CGD) is a hereditary immunodeficiency caused by mutations in genes encoding nicotinamide adenine dinucleotide phosphate oxidase enzyme complex, which lead to the inability to kill intracellular pathogens. Patients with CGD are susceptible to recurrent bacterial and fungal infections in their early lives. Although the recent survival rate has been significantly improved, early diagnosis is critical to prevent multiple organ impairment. In 1950s, CGD was first described as a disease with recurrent infections and visceral infiltration of granulomas and pigmented histiocytes...
July 2018: Pediatric and Developmental Pathology
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