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Pediatric and Developmental Pathology

Elaine Fletcher, Mary Porteous, Eddy Maher, Kathryn J McKenzie, Margaret J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome / genome sequencing and the issues these technologies may generate. A systematic review of fetal post mortems performed between Jan 2011 - Dec 2014 was undertaken. Cases where there was no consent for audit, research or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths and neonatal deaths...
October 27, 2016: Pediatric and Developmental Pathology
Whitney A McCarthy, Edwina J Popek
Fetal anemia and hydrops may be caused by parvovirus B19 infection and maternal alloimmunization to RhD with subsequent hemolytic disease of the fetus and newborn. The use of intrauterine transfusion over the last few decades has dramatically improved outcomes. Prior literature has extensively documented placental changes associated with untreated parvovirus infection and RhD HDFN in intrauterine fetal demises (IUFD) and pre-term births; however, histopathologic changes in term placentas from term infants treated with IUT have not been reported...
September 19, 2016: Pediatric and Developmental Pathology
Manuel Nistal, Ricardo Paniagua, Pilar Gonzalez-Peramato, Miguel Reyes-Múgica
Testicular tumors in the prepubertal age are relatively rare, representing only 9.4% of the total testicular and paratesticular specimens from a 20 year review performed at a large pediatric hospital 1. They account for 1 to 2 % of all solid tumors in the pediatric age group, with an annual incidence between 0.5 and 2/100,000 boys according to Coppes et al. 2 and data from the Prepubertal Testicular Tumor Registry 3. Similar to other neoplasms afflicting children, a bimodal age distribution is observed. The first peak is between birth and 3 years of age, and a second one occurs at the onset of puberty,extending to the fourth decade...
September 14, 2016: Pediatric and Developmental Pathology
James R Wright
Ward Burdick is a name most pathologists who have attended an American Society for Clinical Pathology meeting recognize because of his annual named lecture established in 1929. However few pathologists, including many recipients of the Ward Burdick Award for Distinguished Service to Pathology, know the details of his life or understand his accomplishments. Ward Burdick, who practiced as a pediatric pathologist at the Children's Hospital of Denver, was one of the two primary organizers of the American Society of Clinical Pathologists in 1921-22, which was formed to raise the standards of practice in Clinical Pathology...
September 12, 2016: Pediatric and Developmental Pathology
Suravi Mohanty, Usha Kini, Kanishka Das, Divya Puttegowda, Lokendra Yadav, Manjally Kunjipapu Babu, Kiran Mahadevappa, Prasanna Kumar, Shubha Attibele Mahadevaiah, Mainak Deb
: The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. OBJECTIVE: To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung Disease (HD) and TCA. METHODS: Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) & age matched controls with frozen & paraffin sections, rapid acetylcholinesterase (AChE) & immunohistochemistry...
September 9, 2016: Pediatric and Developmental Pathology
Mana Taweevisit, Boochit Theerasantipong, Kanlaya Taothong, Paul Scott Thorner
The pulmonary neuroendocrine system includes pulmonary neuroendocrine cells (PNECs) and neuroepithelial bodies (NEBs) that are distributed throughout respiratory epithelium, and regulate lung growth and maturation antenatally. Abnormalities in this system have been linked to many hypoxia-associated pediatric pulmonary disorders. Hemoglobin (Hb) Bart disease is a severe form of α-thalassemia resulting in marked intrauterine hypoxia with hydrops fetalis (HF) and usually death in utero. Affected fetuses can serve as a naturally occurring human model for the effects of intrauterine hypoxia and we postulated these effects should include changes in the pulmonary neuroendocrine system...
September 6, 2016: Pediatric and Developmental Pathology
Stewart F Cramer, Cláudia M Salgado, Miguel Reyes-Múgica
In the absence of work on prenatal nevogenesis, it has long been necessary to define congenital melanocytic nevi by clinical detection on neonatal skin examination. They are seen in approximately 1% of newborns, with multiplicity in approximately 3% of cases. Melan-A staining of grossly normal fetal skin recently demonstrated fetal nevi, whose features validated certain traditional histologic criteria for "congenital type" nevi that may not have been detectable at birth. This suggested that many clinically acquired nevi actually formed in utero, like congenital nevi...
September 2016: Pediatric and Developmental Pathology
Min Xu, Lucinda A MacNeal, Brenda J Wittman, Joe C Rutledge
A 13-year-old girl presented with significant weight loss, depression, anemia, and neutropenia. The preliminary diagnosis was anorexia nervosa combined with depression. Due to peripheral cytopenia, a bone marrow biopsy was performed to rule out leukemia. Lupus erythematosus (LE) cells were found in the bone marrow aspirate, which prompted autoantibody testing, although clinically it was not suspected the patient had systemic lupus erythematosus (SLE). Further testing demonstrated very high levels of antinuclear antibodies (ANA) (>12 U) and anti-double strand DNA (dsNDA) (>1000 IU/mL), which confirmed the diagnosis of SLE...
September 2016: Pediatric and Developmental Pathology
Zareen Vadva, Marc R Laufer, Christopher B Weldon, A Lindsay Frazier, Sara O Vargas
Peritoneal fluid sampling has been recommended during surgery to resect an ovarian or fallopian tube mass, particularly for its staging relevance in ovarian carcinoma. Guidelines specifically for children are not well established, partly because of incomplete knowledge of the test characteristics in this age group. We sought to determine whether peritoneal fluid cytology sampling aids in diagnosis or staging of pediatric uterine adnexal masses. Children who underwent adnexal mass biopsy or excision from 1993 to 2014 were identified via archival review...
September 2016: Pediatric and Developmental Pathology
Debra S Heller, Raymond Tellier, Kanti Pabbaraju, Sallene Wong, Ona M Faye-Petersen, Atis Muehlenbachs, Cynthia Goldsmith, Amy Denison, Sherif R Zaki
Massive placental perivillous fibrinoid deposition in the placenta is thought to be an immune-related condition associated with poor perinatal outcomes, including growth restriction and intrauterine fetal demise, with a high risk of recurrence. Rare cases have been associated with Coxsackievirus infection. We present such a case and review the literature.
September 2016: Pediatric and Developmental Pathology
Shengmei Zhou, Larry Wang, Andre Panossian, Dean Anselmo, Samuel Wu, Rajkumar Venkatramani
We report a 7-year-old male with a history of recurrent kaposiform hemangioendothelioma (KHE) in the sacral area and multiple thoracic vertebral lesions. Tumor karyotyping revealed the balanced translocation t(13;16)(q14;p13.3). He had mildly decreased platelet counts but never experienced any episodes of Kasabach-Merritt phenomenon. He was treated with vincristine for 1 year but improvement was minor. Significant clinical improvement was seen with sirolimus therapy. To the best of our knowledge, this is the first report to demonstrate that KHE is associated with a clonal karyotypic abnormality...
September 2016: Pediatric and Developmental Pathology
Patricia K Senagore, Claudia B Holzman, W Tony Parks, Janet M Catov
Prominent syncytial knots (SK) in placentas signal advanced gestation or placental malperfusion, reflecting exposures that adversely affect placental development and pregnancy outcomes. Molecular-level interrogations of syncytiotrophoblast have altered perceptions of and raised questions about the function and disposition of SK. Quantifying SK and achieving acceptable levels of interrater reliability have been challenging. Our objective was to develop a simple, reproducible protocol for counting SK and demonstrate interrater reliability overall and within 3 parameters, ie, preterm vs term delivery, presence vs absence of diffuse prominent SK (DPSK), and SK relationship with a lesion, all of which could influence measurement reproducibility and interpretation...
September 2016: Pediatric and Developmental Pathology
Amara Majeed, Christopher Baird, Michele J Borisuk, Stephen P Sanders, Robert F Padera
Pericardium is used as a tissue substitute during pediatric heart surgery. However, little is known about the histological characteristics of pericardial tissue substitutes. We searched our clinical and Pathology databases to identify cases in which glutaraldehyde-preserved autologous pericardium, PhotoFix bovine pericardium, or Peri-Guard Repair Patch glutaraldehyde-preserved bovine pericardium was used as patch material during cardiac surgery and in which explanted tissue substitute was available for histologic examination...
September 2016: Pediatric and Developmental Pathology
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica
Inborn errors of metabolism have wide and profound effects in many or all organs, and especially so in those with endocrine functions. The testes are greatly affected by systemic metabolic disorders, leading to specific histological findings that generally reveal the nature of the underlying disorder. Here we describe the main testicular changes seen in the setting of metabolic disease.
September 2016: Pediatric and Developmental Pathology
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica
Varicocele is characterized by elongation, dilatation, and tortuosity of the veins draining the testis and its covers, causing circulatory reflux along the inner spermatic vein [ 1 ]. Varicocele results in progressive testicular lesions and, if untreated, can lead to testicular atrophy [ 2 ]. Varicocele is considered the most frequently identified cause of male infertility [ 3 ]. The mechanisms involved in varicocele formation are not well known and probably are multiple, differing from one patient to another...
September 2016: Pediatric and Developmental Pathology
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica
Among the most frequent specimens at the pediatric surgical pathology bench, orchiectomy performed after testicular torsion deserves significant attention. Multiple implications, including fertility, legal complications, possibility of occult lesion, and others, need to be considered. Furthermore, torsion of testicular and other appendices represents common urological emergencies frequently encountered in surgical pathology. Here we present a review of testicular torsion and infarction, including theories about their pathogenesis and the appropriate handling by the diagnostic pathologist...
September 2016: Pediatric and Developmental Pathology
Benoit Vaillancourt, Luc Laurier Oligny, Julie Déry, Julie Franc-Guimond, Dorothee Bouron-Dal Soglio
Ossifying renal tumor of infancy (ORTI) is a rare, benign pediatric tumor of the kidney. Since first reported by Chatten in 1980, 23 cases have been published. Previous authors have argued that ORTI might originate from nephrogenic rests, thereby sharing a pathogenic relationship with Wilms' tumor (WT). ORTI is characterized histologically by a population of polygonal osteoblast-like cells around an osteoid core and densely cellular component of blastemal-like or spindle cells. While the immunohistochemical profile of the cellular components has been reported, to the best of our knowledge the status of WT1 expression has only been reported once, where it showed negative marking...
August 30, 2016: Pediatric and Developmental Pathology
Yiang Hui, Sonja Chen, Kara A Lombardo, Murray B Resnick, Shamlal Mangray, Andres Matoso
Histologically, esophageal biopsies should have {greater than or equal to}15 intraepithelial eosinophils (IEEs) per high power field (HPF) to support a clinicopathologic diagnosis of eosinophilic esophagitis (EoE). Children with clinically apparent EoE may show pauci-eosinophilic biopsies due to patchy involvement. Immunostaining (IHC) for arachidonate-15 lipooxygenase (ALOX15) has been demonstrated to be a sensitive marker for EoE. We retrospectively assessed the expression of ALOX15 in 48 biopsies from 21 patients with established diagnosis of EoE and with tissue fragments below the threshold of 15 IEEs/HPF...
August 30, 2016: Pediatric and Developmental Pathology
Khairul Zainun, Kirsten Hope, Andrew G Nicholson, Marta Cecilia Cohen
Abnormal muscularization of intra acinar pulmonary arteries is a histological hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. The disease is multi-factorial in origin and can be idiopathic as well associated with a variety of conditions such as congenital heart disease and both congenital and acquired lung diseases. We report two cases presenting as sudden unexpected death in late neonatal period (SUDI) showing abnormal muscularization of acinar pulmonary arteries reminiscent of PPHN...
August 30, 2016: Pediatric and Developmental Pathology
Manuel Nistal, Ricardo Paniagua, Pilar Gonzalez-Peramato, Miguel Reyes-Múgica
Acute scrotal pain in children represents a major diagnostic and therapeutic challenge. An important initial differentiation should be made between epididymitis and other processes that cause acute scrotal pain such as testicular torsion and tumor. Infectious agents disseminating through the blood flow can damage the testis by causing orchitis. On the other hand, infections ascending via spermatic pathways typically lead to epididymitis.
August 30, 2016: Pediatric and Developmental Pathology
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