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Pediatric and Developmental Pathology

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https://www.readbyqxmd.com/read/28521635/pathologic-characteristics-natural-history-and-prognostic-implications-of-braf-v600e-mutation-in-pediatric-papillary-thyroid-carcinoma
#1
Steven Hardee, Manju L Prasad, Pei Hui, Catherine A Dinauer, Raffaella A Morotti
The BRAF(V600E) mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521634/chorionic-histiocytic-hyperplasia-is-associated-with-chronic-inflammatory-lesions-in-the-placenta
#2
Philip J Katzman, Leon A Metlay, Loralee A McMahon, Li LiQiong, Bin Zhang
Background Chorionic histiocytic hyperplasia (CHH) is a cellular proliferation at the base of the chorion that was identified by the authors in examining placentas for chronic chorioamnionitis (CC). This study is a retrospective review of cases diagnosed with CHH, describing its incidence alone and with associated lesions, and the immunophenotype of lesional cells. Design In this retrospective study, a laboratory information system search over a 34-month period using the key phrase "chorionic stromal" was performed...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521633/cd30-expression-in-pediatric-neoplasms-study-of-585-cases
#3
Jinjun Cheng, Haiqing Zhu, John Kim Choi
CD30 is a member of the tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), and its normal expression is restricted to activated T and B cells. In tumor cells, CD30 expression is most commonly associated with lymphoid malignancies (Hodgkin and non-Hodgkin lymphomas) and is a therapeutic target using anti-CD30 antibody. CD30 expression has been reported also in mostly adult non-lymphoid malignancies, raising the possibility of CD30-targeted therapy for additional tumors. In this study, we examined the incidence of CD30 expression in 251 hematopoietic and 334 non-hematopoietic cases of pediatric tumors...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521632/hepatic-calcified-tumor-like-mass-complicating-umbilical-vein-catheterization-in-a-neonate
#4
Jeffrey M Resnick, Brett Carmichael, Audra Winder, Kathleen M Dominguez
Presented is a case of a hepatic calcified mass complicating umbilical vein catheterization in a neonate and diagnosed by wedge biopsy. Wedge biopsy of the hepatic mass, situated in proximity to the falciform ligament, revealed expansion of portal tracts by fibrosis and calcification. Some aggregates of calcified material appeared in ectatic vascular spaces. The biopsy findings accounted for the radiographic appearance of the mass and the constellation of features were deemed indicative of calcification secondary to umbilical vein catheterization...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521631/immunohistochemical-profile-of-myc-protein-in-pediatric-small-round-blue-cell-tumors
#5
Karen M Chisholm, Chandra Krishnan, Amy Heerema-McKenney, Yasodha Natkunam
Deregulation of MYC oncoprotein in cancers can result from multiple oncogenic mechanisms. Although MYC translocations define Burkitt lymphoma and MYC protein expression is a poor prognostic factor in undifferentiated neuroblastomas, the distribution of MYC protein (c-MYC) across other pediatric small round blue cell tumors (SRBCT) has not been well characterized. We undertook this study to assess MYC protein expression in a large cohort of pediatric lymphomas, sarcomas, and other SRBCT. Tissue microarrays containing 302 SRBCT were successfully evaluated by immunohistochemistry using anti-MYC clone Y69, with nuclear positivity scored as 0%, 1%-25%, 26%-50%, 51%-75%, or 76%-100%...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#6
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521629/pediatric-intraocular-immature-teratoma-associated-with-sacrococcygeal-teratoma
#7
Kristen E Zhelnin, Grant M Gebhard, David M Mirsky, Scott Cn Oliver, Mark A Lovell, Csaba Galambos, Timothy M Crombleholme, Emily A McCourt
Intraocular teratomas are rare neoplasms with only three previously reported cases. We present the fourth case of intraocular teratoma and the second associated with sacrococcygeal teratoma. While the nature of the association between intraocular teratomas and sacrococcygeal teratomas is unclear, it suggests a need for careful ophthalmologic follow-up of infants with congenital sacrococcygeal teratomas.
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521628/cd36-positive-b-lymphoblasts-predict-poor-outcome-in-children-with-b-lymphoblastic-leukemia
#8
Joanna G Newton, John T Horan, Scott Newman, Michael R Rossi, Rhett P Ketterling, Sunita I Park
Objective We observed that pediatric patients with B lymphoblastic leukemia which expressed CD36 at diagnosis seemed to have worse outcome than patients whose blasts did not. Here, we describe the patient, disease characteristics, pathological, molecular, and genetic features and outcomes of patients with CD36+ B-LL compared to patients with CD36- B-LL. Methods We retrospectively reviewed all flow cytometry reports from September 2008 to December 2015 to identify patients diagnosed at our institution with CD36 expression on B lymphoblasts...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#9
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326965/hematogones-detected-by-flow-cytometry-in-a-child-with-vitamin-b12-deficiency
#10
Lisa Sutton, Nkechi Mba
Vitamin B12 deficiency is a known cause of megaloblastic anemia and bone marrow failure. Bone marrow biopsies are not frequently performed as part of the diagnostic workup and can demonstrate morphologic features that overlap with myelodysplastic syndrome (MDS) and acute leukemia. We describe a case of a dysplastic bone marrow with increased bone marrow hematogones detected by flow cytometry in a child with vitamin B12 deficiency. Hematogones are normal B cell precursors, and hyperplasia has been described in a variety of often reactive conditions and also disease...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326964/adrenal-histologic-stress-related-changes-in-third-trimester-stillbirth
#11
Suzanne M Jacques, Faisal Qureshi
Adrenal histologic changes, including compact cell change (CCC), cystic change (CYC), and adrenal hemorrhage (AH), and their clinical correlations have only infrequently been investigated in stillbirth. We evaluated 75 third trimester singleton stillborns with complete autopsies (30 term and 45 preterm). A total of 58 had unexplained stillbirth and 17 had clinical placental abruption. The mothers were predominantly African-American (89%). CCC and CYC were diagnosed as cytoplasmic eosinophilia and cystic cavities in the definitive cortex, respectively...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326963/the-stillbirth-classification-system-for-the-safe-passage-study
#12
Theonia K Boyd, Colleen A Wright, Hein J Odendaal, Amy J Elliott, Mary Ann Sens, Rebecca D Folkerth, Drucilla J Roberts, Hannah C Kinney
Objective Describe the classification system for assigning the cause of stillbirth in the Safe Passage Study, an international, multi-institutional, prospective analysis conducted by the NIAAA/NICHD-funded Prenatal Alcohol in SIDS and Stillbirth (PASS) Research Network. The study mission is to determine the role of prenatal alcohol and/or cigarette smoke exposure in adverse pregnancy outcomes, including stillbirth, in a high-risk cohort of 12,000 maternal/fetal dyads. Methods The PASS Network classification system is based upon 5 "sites of origin" for cause of stillbirth, further subdivided into mechanism subcategories; both are employed to assign an ultimate cause of death...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326962/intrauterine-fetal-death-with-vanishing-gastroschisis-and-post-mortem-examination-findings
#13
Alexandra Frances Jolley, Elizabeth Jane Beare, Jeremy Granger, Catherine Lucy Cord-Udy, Peter Muller, Lynette Moore
We present a severe case of vanishing gastroschisis resulting in intrauterine death with post mortem examination findings. Gastroschisis is defined as a full thickness paraumbilical abdominal wall defect associated with evisceration of fetal intestine. It is almost always right-sided. Vanishing gastroschisis is an extremely rare form of gastroschisis that results in short bowel syndrome due to exteriorized bowel disconnected from the lumen of the rest of the bowel proximally as well as distally in association with partial or complete closure of the abdominal wall...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326961/fatal-vernix-caseosa-aspiration-associated-with-persistent-pulmonary-hypertension-of-the-newborn
#14
Narongsak Nakwan, Wuttichart Kamolvisit, Charoen Napapongsuriya, Pornpreenun Chaiwiriyawong, Cheep Charoenlap
Vernix caseosa aspiration is an extremely rare condition resulting in high mortality if complicated by persistent hypertension of the newborn (PPHN). Herein we offer the first case report of PPHN due to massive vernix caseosa aspiration documented by histopathological examination. This case report is presented to provide a synopsis of the pathoetiology of PPHN related to vernix caseosa aspiration syndrome as likely to be encountered by neonatologists and general pediatricians involved with neonatal care.
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326960/placental-pathologic-features-in-fetomaternal-hemorrhage-detected-by-flow-cytometry
#15
Natasha E Lewis, Laura Marszalek, Linda M Ernst
Background Fetomaternal hemorrhage (FMH) is a poorly understood entity that can have significant clinical effects. Flow cytometry is a reliable and relatively new method for FMH diagnosis. The objective of this study was to correlate placental pathology with FMH detected by flow cytometry. Methods All patients with available placentas and FMH flow cytometric testing performed from 2009 to 2015 were retrospectively reviewed. Cases were defined as ≥0.10% fetal red blood cells (RBCs) in the maternal circulation while controls contained <0...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326959/angiosarcoma-of-the-pelvis-in-a-13-year-old-girl
#16
Farah El-Sharkawy, Patricia Isabel Delgado, Antonello Podda, Holly Leigh Neville, Claudia Patricia Rojas
Angiosarcomas are highly aggressive malignancies of vascular origin and are very rarely found in children. We report a case of a 13-year-old girl with a history of abdominal pain and increased abdominal girth. Radiologic imaging showed significant ascites and large pelvic masses involving bilateral adnexa with abdominal spread. Microscopic examination of a biopsy revealed pleomorphic epithelioid and spindle cells with brisk mitotic activity, intracytoplasmic vacuoles, vascular channels, and large areas of hemorrhage and necrosis...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326958/persistent-left-superior-vena-cava
#17
Vrinda Nair, Kamran Yusuf, Weiming Yu, Hafez AlAwad, Kathy Paul, Essa Al Awad
Persistent left superior vena cava (PLSVC) is a common cardiac anomaly associated with congenital heart diseases. A diagnosis of PLSVC usually warrants a detailed fetal echocardiography. Lesser known associations are the extra cardiac anomalies notably the upper airway and the gastrointestinal tract anomalies. We highlight here the importance of detailed fetal assessment for extra cardiac anomalies in addition to fetal echocardiography in fetuses diagnosed with PLSVC. We hereby present a preterm infant who presented with a triad of PLSVC, laryngeal atresia, and esophageal atresia...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326957/alk-gene-copy-number-gain-and-immunohistochemical-expression-status-using-three-antibodies-in-neuroblastoma
#18
Eun Kyung Kim, Sewha Kim
Anaplastic lymphoma kinase ( ALK) gene aberrations-such as mutations, amplifications, and copy number gains-represent a major genetic predisposition to neuroblastoma (NB). This study aimed to evaluate the correlation between ALK gene copy number status, ALK protein expression, and clinicopathological parameters. We retrospectively retrieved 30 cases of poorly differentiated NB and constructed tissue microarrays (TMAs). ALK copy number changes were assessed by fluorescence in situ hybridization (FISH) assays, and ALK immunohistochemistry (IHC) testing was performed using three different antibodies (ALK1, D5F3, and 5A4 clones)...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326956/clinical-pathologic-and-genetic-features-of-wilms-tumors-with-wtx-gene-mutation
#19
Sanda Alexandrescu, Sara Akhavanfard, Marian H Harris, Sara O Vargas
Clinical and pathologic features of patients with WTX-mutated Wilms tumor (WT) have not been studied in detail. We characterize the clinical and pathologic findings in WT with WTX abnormalities and provide comparison with WT without WTX mutation. Clinical, gross, and microscopic features in 35 patients with WT were examined. Karyotype was examined in a subset of cases. All cases had been previously analyzed for WTX, WT1, and CTNNB1 aberrations via array comparative genomic hybridization; OncoMap 4 high throughput genotyping was performed on 18 cases...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326955/a-challenging-case-of-severe-infantile-cholestasis-in-alpha-1-antitrypsin-deficiency
#20
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan
Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place...
March 2017: Pediatric and Developmental Pathology
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