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Pediatric and Developmental Pathology

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https://www.readbyqxmd.com/read/27788041/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#1
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
https://www.readbyqxmd.com/read/28051368/diagnostic-pediatric-cytopathology-and-histopathologic-correlation
#2
Lauren Parsons
No abstract text is available yet for this article.
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28051367/founders-of-pediatric-pathology-ward-thomas-burdick-1878-1928
#3
James R Wright
No abstract text is available yet for this article.
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27626837/perspectives-in-pediatric-pathology-chapter-25-testicular-and-paratesticular-tumors-in-the-pediatric-age-group
#4
Manuel Nistal, Ricardo Paniagua, Pilar González-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 0.5/100 000 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...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27575254/perspective-in-pediatric-pathology-chapter-24-testicular-inflammatory-processes-in-pediatric-patients
#5
Manuel Nistal, Ricardo Paniagua, Pilar González-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 [ 1 ].
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27163438/perspectives-in-pediatric-pathology-chapter-23-testicular-pathology-secondary-to-physical-and-chemical-injury
#6
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica
Testicles can be damaged by a variety of physical and chemical agents, ranging from trauma suffered in accidents or athletic activities, to diverse drugs or radiation used in cancer treatment. The immediate and long-term effects of these damaging agents at the testicular morphologic and functional levels are quite varied and may have significant impact on the fertility of the pediatric patient once reproductive age is reached.
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26670096/reference-range-of-platelet-delta-granules-in-the-pediatric-age-group-an-ultrastructural-study-of-platelet-whole-mount-preparations-from-healthy-volunteers
#7
Victoria Sorokin, Razan Alkhoury, Sura Al-Rawabdeh, Ronald H Houston, David Thornton, Bryce Kerlin, Sarah O'Brien, Peter Baker, Carl Boesel, Minhaj Uddin, Han Yin, Samir Kahwash
This study sought to determine delta granule normal ranges for children and to validate methodology for the appropriate diagnosis of delta granule deficiency (storage pool disease) by using the whole-mount technique in electron microscopy. Specimens obtained from 40 healthy volunteers (2 months of age through 21 years old, 21 females and 19 males) were tested. Results showed dense granules/platelet (DG/Plt) ranged from 1.78 to 5.25. The 5th percentile was 1.96 DG/Plt with an overall mean ± SEM 3.07 ± 0.12 DG/Plt...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26669929/prevalence-of-intervillous-thrombi-is-increased-in-placentas-from-pregnancies-complicated-by-diabetes
#8
Kristen M Basnet, Rhonda Bentley-Lewis, Deborah J Wexler, Fusun Kilic, Drucilla J Roberts
Intervillous thrombus (IVT) is a placental pathology of unclear cause. One possible cause is that IVT protects against fetomaternal transfusion due to trophoblastic disruption. A role for hyperglycemia in trophoblast apoptosis has been suggested. We sought to determine whether placentas from pregnancies complicated by diabetes had an increased incidence of IVT. Medical records of 206 patients with type 1 diabetes (n = 39), type 2 diabetes (n = 37), and gestational diabetes (GDM, n = 130) at the Massachusetts General Hospital were identified...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26579953/fatal-disseminated-aspergillus-penicillioides-infection-in-a-3-month-old-infant-with-suspected-cystic-fibrosis-autopsy-case-report-with-review-of-literature
#9
Kirti Gupta, Parikshaa Gupta, Joseph L Mathew, Arun Bansal, Gangandeep Singh, Meenu Singh, Arunaloke Chakrabarti
Patients with cystic fibrosis (CF) often are colonized by Aspergillus species in their respiratory tract, but invasive aspergillosis is a rare complication. We describe the autopsy findings of an infant with cystic fibrosis who had fatal disseminated aspergillosis. The causative agent was identified as A. penicillioides by molecular technique. To our knowledge, this is the first report of disseminated aspergillosis caused by A. penicillioides in any type of patient. The literature on invasive aspergillosis in patients with cystic fibrosis also is reviewed...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/25489661/glycogen-storage-disease-type-iv-and-early-implantation-defect-early-trophoblastic-involvement-associated-with-a-new-gbe1-mutation
#10
Linda Dainese, Nicolas Adam, Sabah Boudjemaa, Kamel Hadid, Jonathan Rosenblatt, Jean-Marie Jouannic, Delphine Heron, Roseline Froissart, Aurore Coulomb
A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration was performed. Pathological examination showed immature villi with numerous slightly yellow intracytoplasmic inclusions within the early implantation stage cytotrophoblastic cells. Inclusions were periodic acid-Schiff and Alcian blue positive and partially positive with periodic acid-Schiff with amylase. Diagnosis of Glycogen storage disease type IV (GSD IV) was made...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/25333836/perspectives-in-pediatric-pathology-chapter-22-testicular-involvement-in-systemic-diseases
#11
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica
Normal testicular physiology requires appropriate function of endocrine glands and other tissues. Testicular lesions have been described in disorders involving the hypothalamus-hypophysis, thyroid glands, adrenal glands, pancreas, liver, kidney, and gastrointestinal tract. Testicular abnormalities can also associate with chronic anemia, obesity, and neoplasia. Although many of the disorders that affect the above-mentioned glands and tissues are congenital, acquired lesions may result in hypogonadism in children and adolescents...
November 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27643761/persistence-of-villous-immaturity-in-term-deliveries-following-intrauterine-transfusion-for-parvovirus-b19-infection-and-rhd-associated-hemolytic-disease-of-the-fetus-and-newborn
#12
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
https://www.readbyqxmd.com/read/27617499/founders-of-pediatric-pathology-ward-thomas-burdick-1878-1928
#13
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
https://www.readbyqxmd.com/read/27611823/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#14
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
https://www.readbyqxmd.com/read/27598399/pulmonary-neuroendocrine-cell-hyperplasia-in-hemoglobin-bart-induced-hydrops-fetalis-a-model-for-chronic-intrauterine-hypoxia
#15
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
https://www.readbyqxmd.com/read/26637069/the-high-multiplicity-of-prenatal-congenital-type-nevi-in-adolescents-and-adults
#16
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
https://www.readbyqxmd.com/read/26580095/is-identification-of-lupus-erythematosus-cells-still-useful-a-case-report
#17
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
https://www.readbyqxmd.com/read/26579785/diagnostic-impact-of-peritoneal-fluid-cytology-in-the-setting-of-pediatric-uterine-adnexal-biopsy-or-resection
#18
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
https://www.readbyqxmd.com/read/26555408/placental-massive-perivillous-fibrinoid-deposition-associated-with-coxsackievirus-a16-report-of-a-case-and-review-of-the-literature
#19
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
https://www.readbyqxmd.com/read/26555222/refractory-kaposiform-hemangioendothelioma-associated-with-the-chromosomal-translocation-t-13-16-q14-p13-3
#20
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
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