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Pediatric and Developmental Pathology

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May 2018: Pediatric and Developmental Pathology
Zöe Powis, Adam C Chamberlin, Christina L Alamillo, Sophia Ceulemans, Lynne M Bird, Sha Tang
Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing...
May 2018: Pediatric and Developmental Pathology
Jamie Campbell, Kristy Armstrong, Nithiya Palaniappan, Eddy Maher, Mary Glancy, Mary Porteous, Kathryn J Mckenzie, Margaret J Evans
Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases. This information was collated with genetic test results (quantitative fluorescent polymerase chain reaction and microarray analysis) and placental pathology to create a database for analysis...
May 2018: Pediatric and Developmental Pathology
Min Xu, Karen M Chisholm, Guang Fan, Anne M Stevens, Joe C Rutledge
In our recent case report, the finding of lupus erythematosus (LE) cells in a bone marrow aspirate led to the diagnosis of systemic lupus erythematosus (SLE) and appropriate treatment, although the patient was not clinically suspected to have SLE. To determine whether LE cells are present in the bone marrow aspirates of SLE patients, but overlooked in routine bone marrow morphology review, bone marrow aspirates from 30 pediatric patients (15 with SLE and 15 with other diagnoses) evaluated by rheumatologists were reviewed...
May 2018: Pediatric and Developmental Pathology
Ann A Wang, Linda M Ernst, Emily S Miller
Introduction Basal plate myometrium (BPMYO), the pathological presence of myometrial fibers in the basal plate, is a common finding on pathological examination of the placenta, yet its clinical correlates are not well studied. As myometrial fibers are frequently located in proximity to poorly converted maternal spiral arteries, our objective was to determine whether BPMYO is associated with hypertensive disorders of pregnancy (HDP), a well-known clinical sequela of abnormal maternal artery remodeling. Methods This case-control study included women who delivered a live-born singleton gestation whose placentas were sent for pathological examination...
May 2018: Pediatric and Developmental Pathology
Matthew D Di Guglielmo, Lacey Perdue, Adebowale Adeyemi, Kenneth L van Golen, Diana U Corao
Gastrointestinal tract-secreted satiety hormones play a significant role in one of the largest health-care challenges for children and adults, obesity. Recent studies in mice identified a novel role for uroguanylin, the endogenous intestinal hormone that binds guanylyl cyclase C (GUCY2C), in regulating satiety via a gut-brain signaling pathway. Mice bred without GUCY2C receptors over-ate and developed obesity. We hypothesized that intestinal uroguanylin expression in pediatric patients with obesity would be lower than patients without obesity, and we attempted to examine the difference with immunohistochemistry...
May 2018: Pediatric and Developmental Pathology
Vivekanand Singh, Karen Eldin, Charles Timmons, Jonathan Bush, Raja Rabah
Pediatric pathology (PP) is a subspecialty of pathology encompassing disease states during human development from the fetus to the young adult. Despite the existence of ACGME-accredited fellowship programs and opportunity for pediatric pathology subspecialty board certification, many pediatric pathology fellowship positions remain unfilled in North America. We sought to understand the difficulties in recruitment to the PP training programs by conducting a survey. A 3-pronged survey targeting pathology residents (PR), PP fellows and recent fellowship graduates (F&G), and PP training programs was conducted...
May 2018: Pediatric and Developmental Pathology
Leonard N Chen, Alexandra Espinel, Brian Reilly, Dragos C Luca
To the best of our knowledge, this is the first case report of middle ear extramedullary hematopoiesis (EMH) in a pediatric patient as well as the first bilateral presentation reported in both children and adults. We report a 13-year-old African-American female with sickle cell disease who developed bilateral hearing loss, with magnetic resonance imaging findings consistent with bilateral glomus tympanicum (GT). Upon excisional biopsy, however, EMH was diagnosed histologically. Besides its novelty, this case highlights the importance of considering EMH in the differential diagnosis of GT including cases with bilateral presentation that may be otherwise highly suggestive of the familial form of GT...
May 2018: Pediatric and Developmental Pathology
Vivek Nair, Jitendra Singh Nigam, Archana Hemant Deshpande, Jyotsna Naresh Bharti, Nilesh Prakash Patil
No abstract text is available yet for this article.
May 2018: Pediatric and Developmental Pathology
Jeffrey A Swarz, Arayamparambil C Anilkumar, Douglas C Miller, N Scott Litofsky, Tomoko Tanaka
Objective We describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management. Methods A 14-year-old girl was referred to the neurology clinic for an abnormal head CT following a concussion. MRI revealed a homogenously enhancing left cervical paraspinal mass. The patient underwent complete resection and subsequent genetic testing and counseling were obtained to determine the presence of Li-Fraumeni Syndrome (LFS) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) mutations...
May 2018: Pediatric and Developmental Pathology
C Dunham, D McFadden, L Dahlgren, B Butler, S Hamilton, M McKinnon
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion...
May 2018: Pediatric and Developmental Pathology
Louis P Dehner, Alejandro A Gru
This overview of mesenchymal tumors presenting in the skin and/or subcutis in children brings together the range of neoplasms and hamartomas which are seen in this age-group. It is not surprising from the perspective of the pediatric or general surgical pathologist that vascular anomalies, including true neoplasms and vascular malformations, are the common phenotypic category. Since there is considerable morphologic overlap among these lesions, clinicopathologic correlation may be more important than for many of the other mesenchymal tumors...
March 2018: Pediatric and Developmental Pathology
Alejandro A Gru, Louis P Dehner
This article focuses on cutaneous hematopoietic neoplasms that are more likely to be encountered in the pediatric age-group and includes both lymphoproliferative and histiocytic disorders. The cutaneous hematologic disorders in children have a different epidemiologic profile to what is seen during adulthood. Although mycosis fungoides is the most frequent form of cutaneous lymphoma in adults, it is very rare in children. Because lymphoblastic leukemias and lymphomas are more frequent in the pediatric setting, cutaneous leukemic infiltrates are relatively common in this age-group...
March 2018: Pediatric and Developmental Pathology
Chen Yang, Alejandro A Gru, Louis P Dehner
The acquired melanocytic nevus is the most common lesion encountered by pediatric pathologists and dermatopathologists in their daily practice. In most cases, there are few difficulties in histopathologic diagnosis. However, it is the acquired melanocytic lesion known as the Spitz nevus, with its intrinsic atypical features which becomes the challenge since it exists along a histopathologic and biologic continuum from the atypical Spitz tumor to spitzoid melanoma. The frustration with some of these spitzoid lesions is that even the "experts" cannot agree as to the differentiation of one from the other even at the level of molecular genetics...
March 2018: Pediatric and Developmental Pathology
Miguel Reyes-Múgica, Pauline M Chou
No abstract text is available yet for this article.
March 2018: Pediatric and Developmental Pathology
Andy C Hsi, Ilana S Rosman
Inflammatory dermatoses encompass a variety of histologic patterns that affect different portions of the skin. In spongiotic, psoriasiform, lichenoid, pityriasiform, and blistering disorders, there are predominately epidermal and junctional activities with variable superficial dermal inflammation. Hypersensitivity reactions can show either epidermal or mostly dermal changes depending on whether the exposure of the exogenous allergen occurs through an external or internal route, respectively. Exceptions include erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis, where the etiology is often due to infection or ingested medications, but the histologic features are almost exclusively confined to the epidermis and dermoepidermal junction...
March 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)...
January 1, 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...
January 1, 2018: Pediatric and Developmental Pathology
(no author information available yet)
No abstract text is available yet for this article.
January 1, 2018: Pediatric and Developmental Pathology
Erik W Nohr, James R Wright
Eosinophilic/T-cell chorionic vasculitis (ETCV) is an idiopathic placental lesion characterized by chorionic vasculitis composed predominantly of eosinophils and CD3+ T lymphocytes. It usually presents as a unifocal lesion, but a subset have multifocal involvement. We report 4 Di-Di and 2 Di-Mo twins sharing fused placental discs with discordant circulatory involvement by multifocal ETCV. The findings are difficult to explain by sampling alone. The limitation of ETCV to 1 fetus's vascular territory in monozygotic twin pregnancies is difficult to explain but could provide insights into the fetal immune system and the etiology of ETCV...
January 1, 2018: Pediatric and Developmental Pathology
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