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Pediatric and Developmental Pathology

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https://www.readbyqxmd.com/read/28812469/placental-pathologic-associations-with-morbidly-adherent-placenta-potential-insights-into-pathogenesis
#1
Linda M Ernst, Rebecca L Linn, Lucy Minturn, Emily S Miller
Background The pathology that underlies morbidly adherent placenta (MAP) is poorly understood. The objective of this study was to describe the placental pathology, especially implantation site pathology, associated with MAP. Methods This was a single institution, retrospective case-control study design examining placentas of patients who delivered between January 2008 and September 2013. MAP cases were defined by the need for clinical intervention at delivery beyond spontaneous placental delivery or simple manual extraction of the placenta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#2
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812467/vessel-perforation-and-false-tracking-resulting-from-umbilical-artery-catheterization-a-case-report-and-literature-review
#3
Surasak Puvabanditsin, Francisco Zaldana, Joseph Raviola, Jeffrey Suell, Karen Hussein, Lauren Walzer, Rajeev Mehta
We report an extremely low-birth-weight neonate who developed umbilical artery perforation and false tracking. There was no life-threatening event relating to the complication. Diagnosis was made at postmortem examination. Little information exists regarding the anatomic and vascular effects of umbilical artery catheterization placement in newborns. We report a new complication of umbilical artery catheterization. We raise the awareness regarding the potential life threat due to this rare but very serious complication...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812466/florid-intussusceptive-like-microvascular-dysangiogenesis-in-a-preterm-lung
#4
Monique E De Paepe, Merline Kocheekkaran V Benny, Lauren Priolo, Francois I Luks, Svetlana Shapiro
The cellular mechanisms underlying the microvascular dysangiogenesis of bronchopulmonary dysplasia (chronic lung disease of the newborn) remain largely undetermined. We report unusual pulmonary vascular findings in a 27-week-gestation male newborn who died on the second day of life from intractable respiratory failure, following a pregnancy complicated by prolonged membrane rupture and persistent severe oligohydramnios. As expected, postmortem examination revealed pulmonary hypoplasia (lung/body weight ratio: 2...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812465/melanotic-neuroectodermal-tumor-of-infancy-presenting-with-fast-growing-scrotal-swelling-a-case-report-and-literature-review
#5
Corinthia Fabien-Dupuis, Benjamin Niver, Nick Shillingford, Larry Wang, Paul J Kokorowski, Shengmei Zhou
Testicular melanotic neuroectodermal tumor of infancy (MNTI) is extremely rare, with 2 cases reported in the literature. Its rarity and rapid and infiltrative growth pattern pose a diagnostic challenge. A previously healthy 3-month-old male, presented with a history of worsening left hemiscrotal swelling for 1 week. An outside ultrasound was suggestive of testicular torsion. Left orchiectomy demonstrated a mass occupying almost entire testicle with a variegated cut surface, with areas of pigmentation, necrosis, and hemorrhage...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812464/congenital-diaphragmatic-hernia-with-liver-herniation-into-the-pericardial-sac-in-a-30-week-gestation-infant
#6
Nisha Patel, Christina Sollinger, Carl T D'Angio, Jeffrey M Vinocur, Kate G Ackerman, Philip J Katzman
Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#7
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812462/severe-intrauterine-amputations-in-one-dichorionic-twin-with-pentalogy-of-cantrell-further-evidence-and-consideration-for-mechanical-teratogenesis
#8
Víctor M Salinas-Torres, Estivaliz A De La O-Espinoza, Rafael A Salinas-Torres
Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#9
Mudher Al-Adnani
Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. A subcutaneous, well circumscribed mass was removed. The cut surface was cream with a vaguely nodular appearance. Histology showed a spindle cell lesion with variable architecture and biphasic morphology. There was no nuclear atypia or pleomorphism...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#10
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812459/alox15-immunohistochemistry-aids-in-the-diagnosis-of-eosinophilic-esophagitis-on-pauci-eosinophilic-biopsies-in-children
#11
Yiang Hui, Sonja Chen, Kara A Lombardo, Murray B Resnick, Shamlal Mangray, Andres Matoso
Histologically, esophageal biopsies should have ≥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 (Immunohistochemistry) 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...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812458/congenital-cystic-lung-lesions-evolution-from-in-utero-detection-to-pathology-diagnosis-a-multidisciplinary-approach
#12
Steven Hardee, Lea Tuzovic, Cicero T Silva, Robert A Cowles, Joshua Copel, Raffaella A Morotti
Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28420318/advancing-clinicopathologic-diagnosis-of-high-risk-neuroblastoma-using-computerized-image-analysis-and-proteomic-profiling
#13
M Khalid Khan Niazi, Jonathan H Chung, Katherine J Heaton-Johnson, Daniel Martinez, Raquel Castellanos, Meredith S Irwin, Stephen R Master, Bruce R Pawel, Metin N Gurcan, Daniel A Weiser
A subset of patients with neuroblastoma are at extremely high risk for treatment failure, though they are not identifiable at diagnosis and therefore have the highest mortality with conventional treatment approaches. Despite tremendous understanding of clinical and biological features that correlate with prognosis, neuroblastoma at ultra-high risk for treatment failure remains a diagnostic challenge. As a first step towards improving prognostic risk stratification within the high-risk group of patients, we determined the feasibility of using computerized image analysis and proteomic profiling on single slides from diagnostic tissue specimens...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28382842/ewing-sarcoma-and-atypical-teratoid-rhabdoid-tumor-a-fish-and-immunohistochemical-comparison
#14
M Cristina Pacheco, Michelle Dolan, Anne Bendel
Ewing sarcoma (ES) and atypical teratoid rhabdoid tumor (ATRT) are high-grade malignancies of childhood, each of which is associated with genetic abnormalities on chromosome 22. ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. We report a case with an unusual fluorescence in situ hybridization signal pattern consistent with EWSR1 rearrangement that was shown to have loss of INI1 expression by immunohistochemistry due to deletion in the long arm of one chromosome 22...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727978/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 that these effects should include changes in the pulmonary neuroendocrine system...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#16
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#17
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727975/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#18
Suravi Mohanty, Usha Kini, Kanishka Das, Divya Puttegowda, Lokendra Yadav, Manjally Kunjipapu Babu, Kiran Mahadevappa, Prasanna Kumar, Shubha Attibele Mahadevaiah, Mainak Deb
Background 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) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727974/autoamputation-of-the-appendix-presenting-as-a-calcified-abdominal-mass-following-necrotizing-enterocolitis
#19
Brent R Weil, Alyaa Al-Ibraheemi, Sara O Vargas, Shawn J Rangel
Autoamputation of the appendix has previously been reported in the literature, but it is likely an unusual event. We report a 2-year-old male child who had previously undergone laparotomy and bowel resection for necrotizing enterocolitis. Two years later a calcified intra-abdominal mass was identified on abdominal radiography and ultrasonography. Eventual laparotomy revealed a densely calcified mass within the transverse mesocolon. The mass was uneventfully resected. Pathologic evaluation showed appendiceal tissue, consistent with prior autoamputation of the vermiform appendix...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727973/pediatric-xanthogranulomatous-cystitis-the-first-described-case-in-a-pre-pubertal-male-and-review-of-the-literature
#20
Janae Preece, Vinay Prasad, Daryl McLeod
Xanthogranulomatous cystitis (XC) is a rare condition affecting the bladder thought to be caused by chronic inflammation. Fewer than 30 cases have been reported in the literature since being first described in 1932. We present the first reported case of XC in a pre-pubertal male and review the literature. A 10-year-old boy presenting with dysuria subsequently developed frequency. After failure of conservative management, an ultrasound of the bladder revealed a mass. The patient underwent partial cystectomy...
July 2017: Pediatric and Developmental Pathology
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