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https://www.readbyqxmd.com/read/28319636/pediatric-nail-diseases-clinical-pearls
#1
Kate E Oberlin
This article highlights pearls shared during a unique and enlightening lecture by Antonella Tosti, MD, a professor at the University of Miami Health System, Florida, on the presentation and management of common pediatric nail diseases. These clinical pearls are shared to help deliver utmost care to our pediatric patients presenting with nail pathology and may help shed light on the management of pediatric nail diseases.
February 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28319470/symptomatic-acute-on-chronic-subdural-hematoma-a-clinicopathological-study
#2
Rudy J Castellani, Gruschenka Mojica-Sanchez, Gary Schwartzbauer, David S Hersh
The pathophysiology of acute-on-chronic subdural hematoma (ACSDH) is complex and incompletely understood. Evidence to date indicates that the overall process is initiated by rotational force with movement of the brain inside the skull, which exerts tensile strain and rupture of bridging veins, leading in turn to acute hemorrhage in the subdural potential space. This is followed by the proliferation of mesenchymal elements with angiogenesis and inflammation, which in turn becomes a substrate for repeated hemorrhage and expansion of the lesion...
March 18, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#3
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28317256/thomas-h-shepard-m-d-pioneer-in-embryology-and-teratology
#4
Alan G Fantel, Janine E Polifka, Godfrey P Oakley
Dr. Thomas H. Shepard died on October 3, 2016 at the age of 93. He was a major figure in the fields of teratology, embryonic and fetal pathology, and pediatrics. He was beloved by his colleagues as he was by the many students and fellows whom he taught, mentored and befriended. His contributions to teratology are extraordinary and he is greatly missed. © 2017 Wiley Periodicals, Inc.
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28314199/unusual-ultrasound-appearance-of-small-bowel-intussusception-and-secondary-bowel-obstruction-in-a-child-with-peutz-jeghers-syndrome
#5
Lei Wu, Ramesh S Iyer, George T Drugas, A Luana Stanescu
Small bowel intussusception (SBI) in pediatric patients resolves spontaneously in the majority of cases. Pathologic small bowel intussusception with a lead point is rare in children. Ultrasound (US) is the preferred initial imaging study for the diagnosis of intussusception. We report a case of long-segment SBI and secondary bowel obstruction caused by a large hamartomatous polyp. This case emphasizes unique, atypical ultrasound findings that may be encountered in small bowel intussusception, with correlative radiographic, CT (computed tomography) and intra-operative findings...
March 9, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28303061/polymorphisms-of-insulin-receptor-substrate-2-are-putative-biomarkers-for-pediatric-medulloblastoma-considering-the-genetic-susceptibility-and-pathological-diagnoses
#6
Wang Baocheng, Yang Zhao, Wei Meng, Yipeng Han, Jiajia Wang, Feili Liu, Shengying Qin, Jie Ma
Molecular profiling subgrouped medulloblastoma (MB) into four subtypes featured by distinct footprints. However, germline studies on genetic susceptibility in Chinese population have not been reported. To investigate the correlation of polymorphisms involved in the AKT signaling pathway with clinicopathological parameters in pediatric MB, and their contribution to the clinical outcome, we performed a case-controlled cohort consisting of 48 patients with pediatric MB and 190 healthy controls from Han population...
February 2017: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28302372/experiences-during-newborn-screening-for-glutaric-aciduria-type-1-diagnosis-treatment-genotype-phenotype-and-outcomes
#7
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, Shu-Chen Hsieh, Yung-Hsiu Lu, Ming-Che Lee, Ju-Shan Pai, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Ming-Tzu Tsai, Ping-Hsun Ho, Min-Chieh Lin, Ling-Yee Cheng, Ya-Chin Chuang, Dau-Ming Niu
BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness...
March 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28302000/expanded-criteria-for-hepatocellular-carcinoma-in-liver-transplant
#8
Mehmet Haberal, Aydıncan Akdur, Gökhan Moray, Gülnaz Arslan, Figen Özçay, Haldun Selçuk, Handan Özdemir
OBJECTIVES: Hepatocellular carcinoma is the sixth most common cancer worldwide and is the third highest cause of malignancy-related death. Because of its typically late diagnosis, median survival is approximately 6 to 20 months, with 5-year survival of < 12%. Hepatocellular carcinoma typically arises in the background of cirrhosis, with liver transplant regarded as the optimal therapy for selected patients. Initially, orthotopic liver transplant was limited to patients with extensive unresectable tumors, resulting in uniformly dismal outcomes due to high tumor recurrence rates...
March 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28301225/optimal-diagnostic-yield-achieved-with-on-site-pathology-evaluation-of-fine-needle-aspiration-assisted-core-biopsies-for-pediatric-osseous-lesions-a-single-center-experience
#9
Kalyani Patel, Darryl Kinnear, Norma M Quintanilla, John Hicks, Eumenia Castro, Choladda Curry, John Dormans, Daniel J Ashton, J Alberto Hernandez, Hao Wu
CONTEXT: - Image-guided, fine-needle aspiration-assisted core needle biopsy with an on-site evaluation by a pathologist (FNACBP) of osseous lesions is not a common practice in pediatric institutions. OBJECTIVES: - To evaluate the diagnostic adequacy and accuracy of FNACBP for pediatric osseous lesions and to compare the adequacy with procedures that do not use fine-needle aspiration. DESIGN: - Six-year, retrospective review of 144 consecutive children biopsied for osseous lesions with and without fine-needle aspiration assistance...
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28298602/a-single-dose-recombinant-piv5-expressing-respiratory-syncytial-virus-f-and-g-proteins-protected-cotton-rats-and-african-green-monkeys-from-rsv-challenge
#10
Dai Wang, Shannon Phan, Daniel J DiStefano, Michael P Citron, Cheryl L Callahan, Lani Indrawati, Sheri A Dubey, Gwendolyn J Heidecker, Dhanasekaran Govindarajan, Xiaoping Liang, Biao He, Amy S Espeseth
Human respiratory syncytial virus (RSV) is a common cause of severe respiratory disease among infants, immunocompromised individuals and the elderly. No licensed vaccine is currently available. In this study, we evaluated two parainfluenza virus 5 (PIV5)-vectored vaccines expressing RSV F (PIV5/F) or G (PIV5/G) proteins in the cotton rat and African green monkey models for their replication, immunogenicity and efficacy of protection against RSV challenge. Following a single intranasal inoculation, both animal species shed the vaccine viruses for a limited time but without noticeable clinical symptoms...
March 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28296821/protease-activated-receptor-1-plays-a-proinflammatory-role-in-colitis-by-promoting-th17-related-immunity
#11
Muhammad A Saeed, Garrett Z Ng, Jan Däbritz, Josef Wagner, Louise Judd, Jia-Xi Han, Poshmaal Dhar, Carl D Kirkwood, Philip Sutton
BACKGROUND: Proteolytic cleavage of protease-activated receptor 1 (PAR1) can result in potent downstream regulatory effects on inflammation. Although PAR1 is expressed throughout the gastrointestinal tract and activating proteases are increased in inflammatory bowel disease, the effect of PAR1 activation on colitis remains poorly understood, and has not previously been studied in pediatric disease. METHODS: Expression of PAR1 and inflammatory cytokines in colonic biopsies from pediatric patients with Crohn's disease exhibiting active moderate to severe colitis was measured by quantitative PCR...
April 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28296681/adenovirus-hepatitis-clinicopathologic-analysis-of-12-consecutive-cases-from-a-single-institution
#12
Kurt B Schaberg, Neeraja Kambham, Richard K Sibley, John P T Higgins
Adenoviruses are common pathogens that usually cause self-limited infections. However, in the immunocompromised host they can cause severe infections involving multiple organs including the liver. A search of the pathology database at Stanford University Medical Center (1995 to 2016) identified 12 cases of adenovirus hepatitis including biopsy and autopsy specimens. There were 8 pediatric patients, 7 of which had received orthotropic liver transplants and 1 of which was receiving chemotherapy for lymphoblastic leukemia...
March 14, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28296675/eosinophilic-esophagitis-and-esophageal-granular-cell-tumor-an-unexpected-association
#13
Mary Ellen Riffle, Alexandros D Polydorides, Jessica Niakan, Mirna Chehade
Esophageal granular cell tumors (GCTs) are rare. Eosinophilic esophagitis (EoE) is an immune-mediated disease characterized by esophageal eosinophilia despite proton pump inhibitor (PPI) therapy. Given that GCTs occur at sites of scarring and inflammation, we sought to determine the prevalence of EoE in patients with esophageal GCTs. Our center's pathology database was searched for GCT specimens from 1995 to 2014. Slides were blindly rereviewed. GCTs were scored for atypical cytological features. Presence and number of eosinophils in the tumor and the surrounding esophageal epithelium and any EoE features were recorded...
March 14, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28294349/malignant-glomus-tumors-of-the-head-and-neck-in-children-and-adults-evaluation-and-management
#14
Nikolaus E Wolter, Eelam Adil, Alexandria L Irace, Annette Werger, Antonio R Perez-Atayde, Christopher Weldon, Darren B Orbach, Carlos Rodriguez-Galindo, Reza Rahbar
OBJECTIVES/HYPOTHESIS: To describe our current multidisciplinary approach to pediatric malignant glomus tumors of the head and neck and review the current literature. STUDY DESIGN: Retrospective chart review at a tertiary referral children's hospital and a comprehensive literature review. METHODS: A comprehensive literature search of PubMed, Embase, Web of Science, Google Scholar, and EBSCO with respect to malignant glomus tumors of the head and neck was conducted...
March 14, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28293736/5ala-in-pediatric-brain-tumors-is-not-routinely-beneficial
#15
Jonathan Roth, Shlomi Constantini
PURPOSE: Over recent years, 5-aminoluvolinic acid (5ALA) has been increasingly used for resection guidance in adult high-grade gliomas. However, amongst pediatric patients, publication of intraoperative fluorescence has been limited, with inconsistent outcomes. We describe our experience and intraoperative finding amongst children with various brain tumors that were given 5ALA prior to tumor resection. METHODS: Since October 2014, data regarding intraoperative findings amongst children that received 5ALA prior to tumor resection were prospectively collected...
March 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28291425/long-term-outcomes-of-epilepsy-surgery-in-85-pediatric-patients-followed-up-for-over-10-years-a-retrospective-survey
#16
Hiroshi Hosoyama, Kazumi Matsuda, Tadahiro Mihara, Naotaka Usui, Koichi Baba, Yushi Inoue, Takayasu Tottori, Toshiaki Otsubo, Yumi Kashida, Koji Iida, Hirofumi Hirano, Ryosuke Hanaya, Kazunori Arita
OBJECTIVE The aim of this study was to investigate the treatment outcomes and social engagement of patients who had undergone pediatric epilepsy surgery more than 10 years earlier. METHODS Between 1983 and 2005, 110 patients younger than 16 years underwent epilepsy surgery at the National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders. The authors sent a questionnaire to 103 patients who had undergone follow-up for more than 10 years after surgery; 85 patients (82.5%) responded. The survey contained 4 categories: seizure outcome, use of antiepileptic drugs, social participation, and general satisfaction with the surgical treatment (resection of the epileptic focus, including 4 hemispherectomies)...
March 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28289839/pneumosinus-dilatans-of-the-spheno-ethmoidal-complex-associated-with-hypovitaminosis-d-causing-bilateral-optic-canal-stenosis
#17
Saritha Aryan, Sumit Thakar, Aniruddha T Jagannatha, Chandrakiran Channegowda, Arun S Rao, Alangar S Hegde
INTRODUCTION: Pneumosinus dilatans (PSD) is a rare disorder of undetermined etiology characterized by expansion of the paranasal sinuses without bony erosion. Of the few cases of PSD described in indexed pediatric literature, there has been no reported case of this disorder presenting with optic canal stenosis in the setting of a vitamin deficiency. CASE MATERIAL: A 12-year-old girl presented with a 3-month history of progressive, painless, and asymmetric visual deterioration in her eyes...
March 13, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28288717/pathology-of-nodal-marginal-zone-lymphomas
#18
REVIEW
Stefano Pileri, Maurilio Ponzoni
Nodal marginal zone B cell lymphomas (NMZLs) are a rare group of lymphoid disorders part of the spectrum of marginal zone B-cell lymphomas, which encompass splenic marginal one B-cell lymphoma (SMZL) and extra nodal marginal zone of B-cell lymphoma (EMZL), often of MALT-type. Two clinicopathological forms of NMZL are recognized: adult-type and pediatric-type, respectively. NMZLs show overlapping features with other types of MZ, but distinctive features as well. In this review, we will focus on the salient distinguishing features of NMZL mostly under morphological/immunophenotypical/molecular perspectives in views of the recent acquisitions and forthcoming updated 2016 WHO classification of lymphoid malignancies...
March 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/28288145/rectal-temperature-in-the-first-five-hours-after-hypoxia-ischaemia-critically-affects-neuropathological-outcomes-in-neonatal-rats
#19
Thomas Wood, Catherine Hobbs, Mari Falck, Anne Charlotte Brun, Else Marit Løberg, Marianne Thoresen
BACKGROUND: Hyperthermia after hypoxia-ischaemia (HI) in newborn infants is associated with worse neurological outcomes. Loss of thermoregulation may also be associated with greater injury. METHODS: In the postnatal-day 7 (P7) rat, the effect of 5h of graded hyperthermia (38°C or 39°C) immediately after unilateral HI was compared to normothermia (NT, 37°C), and therapeutic hypothermia (TH, 32°C). Early (negative geotaxis) and late (staircase test) behavioural testing was performed, as well as neuropathology scoring in adulthood...
March 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28286750/cellular-pathology-of-pelizaeus-merzbacher-disease-involving-chaperones-associated-with-endoplasmic-reticulum-stress
#20
REVIEW
Ken Inoue
Disease-causing mutations in genes encoding membrane proteins may lead to the production of aberrant polypeptides that accumulate in the endoplasmic reticulum (ER). These mutant proteins have detrimental conformational changes or misfolding events, which result in the triggering of the unfolded protein response (UPR). UPR is a cellular pathway that reduces ER stress by generally inhibiting translation, increasing ER chaperones levels, or inducing cell apoptosis in severe ER stress. This process has been implicated in the cellular pathology of many neurological disorders, including Pelizaeus-Merzbacher disease (PMD)...
2017: Frontiers in Molecular Biosciences
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