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https://www.readbyqxmd.com/read/28905428/cost-effective-screening-of-dnmt3a-coding-sequence-identifies-somatic-mutation-in-pediatric-t-cell-acute-lymphoblastic-leukemia
#1
Bronisława Szarzyńska-Zawadzka, Maria Kosmalska, Łukasz Sędek, Alicja Sonsala, Magdalena Twardoch, Jerzy R Kowalczyk, Tomasz Szczepański, Michał Witt, Małgorzata Dawidowska
BACKGROUND AND OBJECTIVES: In pediatric T-cell acute lymphoblastic leukemia (T-ALL) risk assignment schemes preclude reliable prediction of outcome and thus new prognostic factors are needed. Mutations in DNMT3A are candidate prognostic and classification markers in adults with acute myeloid leukemia (AML) and T-ALL and thus were considered as candidates prognostic markers in pediatric T-ALL. PATIENTS AND METHODS: DNMT3A mutational status was investigated in 74 pediatric T-ALL samples collected at diagnosis...
September 14, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28899974/genomic-characterisation-of-vulvar-pre-cancers-identifies-distinct-molecular-subtypes-with-prognostic-significance
#2
Linda Nooij, Natalja Ter Haar, Dina Ruano, Natalia Rakislova, Vincent T H B M Smit, J Baptist M Z Trimbos, Jaume Ordi, Mariette Ie van Poelgeest, Tjalling Bosse, Tom van Wezel
Background Vulvar cancer (VC) can be sub-classified by human papilloma virus (HPV) status. HPV negative VCs frequently harbour TP53 mutations, however in-depth analysis of other potential molecular genetic alterations is lacking. We comprehensively assessed somatic mutations in a large series of vulvar (pre)cancers. Methods We performed targeted next generation sequencing (17 genes), p53 immunohistochemistry and HPV-testing on 36 VC and 82 precursors (sequencing cohort). Subsequently, the prognostic significance of the three subtypes identified in the sequencing cohort was assessed in a series of 236 VC-patients (follow-up cohort)...
September 12, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28890042/guillain-barre-syndrome-in-the-elderly-experience-from-a-tertiary-care-hospital-in-india
#3
M Nagappa, W Rahul, S Sinha, P S Bindu, P S Mathuranath, S Rao, S Periyavan, G S Umamaheshwara Rao, A B Taly
Age influences incidence and prognosis of Guillain Barre Syndrome (GBS), common cause of ascending areflexic quadriparesis. Dedicated studies on elderly GBS are infrequent. This study aimed to describe clinical features and outcome at hospital-discharge in patients aged≥60years with GBS. Medical records of 70 elderly GBS over 15years were analysed. Mean symptom-duration was 5.78±4.5days and onset-to-peak 5.14±4.4days. Antecedent events preceded GBS by 8.07±9.9days and included: fever (n=19), respiratory infection (n=6), and gastroenteritis (n=5)...
September 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28882638/delayed-onset-of-atrial-fibrillation-and-ventricular-tachycardia-after-an-automobile-lightning-strike
#4
Dorian Drigalla, Shannon E Essler, C Keith Stone
BACKGROUND: Lightning strike is a rare medical emergency. The primary cause of death in lightning strike victims is immediate cardiac arrest. The mortality rate from lightning exposure can be as high as 30%, with up to 70% of patients left with significant morbidity. CASE REPORT: An 86-year-old male was struck by lightning while driving his vehicle and crashed. On initial emergency medical services evaluation, he was asymptomatic with normal vital signs. During his transport, he lost consciousness several times and was found to be in atrial fibrillation with intermittent runs of ventricular tachycardia during the unconscious periods...
September 4, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28881492/a-novel-elane-mutation-associated-with-inflammatory-arthritis-defective-netosis-and-recurrent-parvoviral-infection
#5
Uma Thanarajasingam, Mark A Jensen, Jessica M Dorschner, Theresa Wampler Muskardin, Yogita Ghodke-Puranik, Monica Purmalek, Elias Eliopoulos, Maria I Zervou, George N Goulielmos, Matthew Howard, Mariana J Kaplan, Timothy B Niewold
OBJECTIVE: We describe a 38-year-old woman presenting with a history of inflammatory arthritis, rash and daily fevers. She was noted to have chronic parvoviral infection with persistently detectable viral titers and a novel mutation in the ELANE gene. ELANE encodes neutrophil elastase, a neutrophil serine protease with important antimicrobial effects and is found as part of neutrophil extracellular trap (NET) complexes. Pathogenic ELANE mutations have been described in forms of hereditary neutropenia...
September 7, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28854567/polyploidy-and-interspecific-hybridization-partners-for-adaptation-speciation-and-evolution-in-plants
#6
Karine Alix, Pierre R Gérard, Trude Schwarzacher, J S Pat Heslop-Harrison
Background: Polyploidy or whole-genome duplication is now recognized as being present in almost all lineages of higher plants, with multiple rounds of polyploidy occurring in most extant species. The ancient evolutionary events have been identified through genome sequence analysis, while recent hybridization events are found in about half of the world's crops and wild species. Building from this new paradigm for understanding plant evolution, the papers in this Special Issue address questions about polyploidy in ecology, adaptation, reproduction and speciation of wild and cultivated plants from diverse ecosystems...
August 1, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28811940/recurrent-wheezing-and-cough-caused-by-double-aortic-arch-not-asthma
#7
Qiao Zhang, Zhou Fu, Jihong Dai, Gang Geng, Wenlong Fu, Daiyin Tian
INTRODUCTION: Double aortic arch is a congenital vascular abnormality in which the connected segments and their branches course between and compress the trachea and esophagus, often resulting in invariable airway compression. CASE PRESENTATION: A 4-year-old boy with a history of recurrent wheezing was admitted to our hospital for evaluation of asthma based on his past medical history, persistent cough, wheezing, and airway hyperresponsiveness by lung function test...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28807343/anisometric-cell-lipoma-insight-from-a-case-series-and-review-of-the-literature-on-adipocytic-neoplasms-in-survivors-of-retinoblastoma-suggest-a-role-for-rb1-loss-and-possible-relationship-to-fat-predominant-fat-only-spindle-cell-lipoma
#8
Abbas Agaimy
The term "anisometric cell lipoma" (ACL) has been proposed recently by Evans for a lipoma variant characterized by striking variation in size and shape of adipocytes but little or no cytological atypia. One patient with multiple ACL had a history of retinoblastoma. The current study analyzed six patients with ACL (4 males and two females aged 34 to 87years; median, 58); all seen in consultation. Five patients presented with solitary and one with multiple subcutaneous masses measuring 5 to 9cm (median, 7.5cm)...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28772124/proximodistal-heterogeneity-of-hippocampal-ca3-pyramidal-neuron-intrinsic-properties-connectivity-and-reactivation-during-memory-recall
#9
Qian Sun, Alaba Sotayo, Alejandro S Cazzulino, Anna M Snyder, Christine A Denny, Steven A Siegelbaum
The hippocampal CA3 region is classically viewed as a homogeneous autoassociative network critical for associative memory and pattern completion. However, recent evidence has demonstrated a striking heterogeneity along the transverse, or proximodistal, axis of CA3 in spatial encoding and memory. Here we report the presence of striking proximodistal gradients in intrinsic membrane properties and synaptic connectivity for dorsal CA3. A decreasing gradient of mossy fiber synaptic strength along the proximodistal axis is mirrored by an increasing gradient of direct synaptic excitation from entorhinal cortex...
August 2, 2017: Neuron
https://www.readbyqxmd.com/read/28753864/predicting-prostate-cancer-progression-as-a-function-of-ets-related-gene-status-race-and-obesity-in-a-longitudinal-patient-cohort
#10
Jennifer Cullen, Denise Young, Yongmei Chen, Michael Degon, James Farrell, Jason Sedarsky, Wagner Baptiste, Philip Rosen, Vladimir Tolstikov, Michael Kiebish, Jacob Kagan, Sudhir Srivastava, Huai-Ching Kuo, Joel T Moncur, Inger L Rosner, Niven Narain, Viatcheslav Akmaev, Gyorgy Petrovics, Albert Dobi, David G McLeod, Shiv Srivastava, Isabell A Sesterhenn
BACKGROUND: ETS-related gene (ERG) oncogenic activation is the most common genomic alteration in prostate cancer (CaP) although it occurs less frequently in African American (AA) versus Caucasian (CA) patients, and the potential role of ERG as a prognostic marker has not been confirmed. OBJECTIVE: This study was conducted to confirm strong racial variation in the prevalence of ERG oncoprotein expression and to examine ERG oncoprotein expression, race, and body mass index as independent and joint predictors of CaP biochemical recurrence (BCR) following radical prostatectomy (RP)...
March 11, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28748349/desmoplastic-small-round-cell-tumor-evaluation-of-reverse-transcription-polymerase-chain-reaction-and-fluorescence-in-situ-hybridization-as-ancillary-molecular-diagnostic-techniques
#11
Mustafa Mohamed, David Gonzalez, Karen J Fritchie, John Swansbury, Dorte Wren, Charlotte Benson, Robin L Jones, Cyril Fisher, Khin Thway
Desmoplastic small round cell tumor (DSRCT) is a rare, biologically aggressive soft tissue neoplasm of uncertain differentiation, most often arising in the abdominal and pelvic cavities of adolescents and young adults with a striking male predominance. Histologically, it is characterized by islands of uniform small round cells in prominent desmoplastic stroma, and it has a polyimmunophenotypic profile, typically expressing WT1 and cytokeratin, desmin, and neural/neuroendocrine differentiation markers to varying degrees...
July 26, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28731049/composite-hemangioendothelioma-with-neuroendocrine-marker-expression-an-aggressive-variant
#12
Kyle D Perry, Alyaa Al-Lbraheemi, Brian P Rubin, Jin Jen, Hongzheng Ren, Jin Sung Jang, Asha Nair, Jaime Davila, Stefan Pambuccian, Andrew Horvai, William Sukov, Henry D Tazelaar, Andrew L Folpe
Aberrant expression of neuroendocrine markers is extremely rare in endothelial neoplasms, with only a single report describing three cases. Although originally classified as conventional angiosarcoma, further assessment of these tumors revealed a strikingly composite morphology composed of retiform and epithelioid elements reminiscent of composite hemangioendothelioma, a rare subtype of hemangioendothelioma. To further investigate these findings, available materials from 11 morphologically distinctive endothelial tumors showing neuroendocrine marker expression were retrieved from our archives...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28725344/complete-response-of-mediastinal-clear-cell-sarcoma-to-pembrolizumab-with-radiotherapy
#13
Samuel Marcrom, Jennifer F De Los Santos, Robert M Conry
BACKGROUND: Clear cell sarcoma (CCS) is a rare, aggressive soft tissue sarcoma thought to derive from neural crest and characterized by a 12;22 translocation. The resulting fusion protein directly activates expression of the melanocyte master transcription factor and drives the same down-stream pathways in CCS and melanoma leading to significant clinical parallels between these malignancies. Striking success of immune checkpoint blockade in melanoma has promoted interest in immunotherapy of CCS...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28723274/identifying-voxels-at-risk-for-progression-in-glioblastoma-based-on-dosimetry-physiologic-and-metabolic-mri
#14
Mekhail Anwar, Annette M Molinaro, Olivier Morin, Susan M Chang, Daphne A Haas-Kogan, Sarah J Nelson, Janine M Lupo
Despite the longstanding role of radiation in cancer treatment and the presence of advanced, high-resolution imaging techniques, delineation of voxels at-risk for progression remains purely a geometric expansion of anatomic images, missing subclinical disease at risk for recurrence while treating potentially uninvolved tissue and increasing toxicity. This remains despite the modern ability to precisely shape radiation fields. A striking example of this is the treatment of glioblastoma, a highly infiltrative tumor that may benefit from accurate identification of subclinical disease...
September 2017: Radiation Research
https://www.readbyqxmd.com/read/28719466/dedifferentiated-liposarcoma-with-epithelioid-epithelial-features
#15
Naohiro Makise, Akihiko Yoshida, Motokiyo Komiyama, Fumihiko Nakatani, Kan Yonemori, Akira Kawai, Masashi Fukayama, Nobuyoshi Hiraoka
Dedifferentiated liposarcoma (DDLPS) demonstrates a variety of growth patterns, and their histologic resemblance to other spindle cell mesenchymal tumors has been widely recognized. However, epithelioid morphology in DDLPS has only rarely been documented. Here, we report 6 cases of DDLPS with striking epithelioid/epithelial features. The patients were 5 men and 1 woman with a median age of 61 years. All tumors were located in the internal trunk. During follow-up of 1 to 41 months, local recurrence, distant metastases, and tumor-related death occurred in 4, 2, and 4 patients, respectively...
July 20, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28714566/gsk-3%C3%AE-activation-index-is-a-potential-indicator-for-recurrent-inflammation-of-chronic-rhinosinusitis-without-nasal-polyps
#16
Haiyu Hong, Fenghong Chen, Yongkang Qiao, Yan Yan, Rongkai Zhang, Zhe Zhu, Huabin Li, Yunping Fan, Geng Xu
Chronic rhinosinusitis without nasal polyps (CRSsNP) is one of the most common otorhinolaryngologic diseases worldwide. However, the underlying mechanism remains unclear. In this study, the expression of glycogen synthase kinase 3 (GSK-3) was quantitatively evaluated in patients with CRSsNP (n = 20) and healthy controls (n = 20). The mRNA levels of GSK-3α and GSK-3β were examined by qPCR, the immunoreactivities of GSK-3β and nuclear factor-κB (NF-κB) were examined by immunohistochemistry (IHC) staining, and the protein levels of GSK-3β, phospho-GSK-3β (p-GSK-3β, s9) and NF-κB were examined using Western blot analysis...
July 17, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28713588/genomic-landscape-of-high-grade-meningiomas
#17
Wenya Linda Bi, Noah F Greenwald, Malak Abedalthagafi, Jeremiah Wala, Will J Gibson, Pankaj K Agarwalla, Peleg Horowitz, Steven E Schumacher, Ekaterina Esaulova, Yu Mei, Aaron Chevalier, Matthew Ducar, Aaron R Thorner, Paul van Hummelen, Anat Stemmer-Rachamimov, Maksym Artyomov, Ossama Al-Mefty, Gavin P Dunn, Sandro Santagata, Ian F Dunn, Rameen Beroukhim
High-grade meningiomas frequently recur and are associated with high rates of morbidity and mortality. To determine the factors that promote the development and evolution of these tumors, we analyzed the genomes of 134 high-grade meningiomas and compared this information with data from 587 previously published meningiomas. High-grade meningiomas had a higher mutation burden than low-grade meningiomas but did not harbor any statistically significant mutated genes aside from NF2. High-grade meningiomas also possessed significantly elevated rates of chromosomal gains and losses, especially among tumors with monosomy 22...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28706147/tumor-p38mapk-signaling-enhances-breast-carcinoma-vascularization-and-growth-by-promoting-expression-and-deposition-of-pro-tumorigenic-factors
#18
Michelle Limoge, Alfiya Safina, Alexander M Truskinovsky, Ieman Aljahdali, Justin Zonneville, Aleksandar Gruevski, Carlos L Arteaga, Andrei V Bakin
The breast carcinoma microenvironment strikingly influences cancer progression and response to therapy. Various cell types in the carcinoma microenvironment show significant activity of p38 mitogen-activated protein kinase (MAPK), although the role of p38MAPK in breast cancer progression is still poorly understood. The present study examined the contribution of tumor p38MAPK to breast carcinoma microenvironment and metastatic capacity. Inactivation of p38MAPK signaling in metastatic breast carcinoma cells was achieved by forced expression of the kinase-inactive mutant of p38/MAPK14 (a dominant-negative p38, dn-p38)...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28570392/primary-cutaneous-small-cell-variant-of-anaplastic-large-cell-lymphoma-a-case-series-and-review-of-the-literature
#19
Cynthia M Magro, Shabnam Momtahen, Maija Kiuru
Primary cutaneous anaplastic large cell lymphoma (ALCL), similar to systemic ALCL, has as its histomorphologic hallmarks cohesive sheets of large lymphoid cells expressing CD30. Several morphologic variants of systemic ALCL have been reported, including the common (classic) type, lymphohistiocytic, and small cell variants. The small cell variant of ALCL is characterized by a predominant cytomorphology which is unexpected for ALCL, being in the context of a small- to medium-sized hyperchromatic atypical lymphocyte...
May 22, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28567298/recurrent-insulinoma-in-a-10-year-old-boy-with-down-s-syndrome
#20
Noman Ahmad, Abdulmonem Mohammed Almutawa, Mohamed Ziyad Abubacker, Hossam Ahmed Elzeftawy, Osama Abdullah Bawazir
An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down's syndrome in adults. Insulinoma diagnosis is frequently missed in adults as well as in children. The Whipple triad is the most striking feature although it has limited application in young children. Hypoglycaemia with elevated insulin, C-peptide and absent ketones is highly suggestive of hyperinsulinism...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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