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Martin Franke, Daniel M Ibrahim, Guillaume Andrey, Wibke Schwarzer, Verena Heinrich, Robert Schöpflin, Katerina Kraft, Rieke Kempfer, Ivana Jerković, Wing-Lee Chan, Malte Spielmann, Bernd Timmermann, Lars Wittler, Ingo Kurth, Paola Cambiaso, Orsetta Zuffardi, Gunnar Houge, Lindsay Lambie, Francesco Brancati, Ana Pombo, Martin Vingron, Francois Spitz, Stefan Mundlos
Chromosome conformation capture methods have identified subchromosomal structures of higher-order chromatin interactions called topologically associated domains (TADs) that are separated from each other by boundary regions. By subdividing the genome into discrete regulatory units, TADs restrict the contacts that enhancers establish with their target genes. However, the mechanisms that underlie partitioning of the genome into TADs remain poorly understood. Here we show by chromosome conformation capture (capture Hi-C and 4C-seq methods) that genomic duplications in patient cells and genetically modified mice can result in the formation of new chromatin domains (neo-TADs) and that this process determines their molecular pathology...
October 5, 2016: Nature
Suleyman Cuneyt Karakus, Bulent Hayri Ozokutan, Unal Bakal, Haluk Ceylan, Mehmet Sarac, Seval Kul, Ahmet Kazez
AIM: The aim of this study is to analyse the effect of delayed diagnosis on mortality rates, and evaluate the role of delayed diagnosis as a new prognostic factor in patients with oesophageal atresia (OA), especially in developing countries. METHODS: The records of 80 consecutive patients with OA (2008-2013) were reviewed. Patients were divided into two groups according to the time of diagnosis. As we demonstrated the effect of delayed diagnosis on mortality, we decided to develop a new classification that will be utilised to predict the prognosis of OA...
October 4, 2016: Journal of Paediatrics and Child Health
Julien Pontoizeau, Andrea Stefan, François Comoz, Aurélie Houlier, Véronique Haddad, Daniel Pissaloux, Arnaud de la Fouchardiere
No abstract text is available yet for this article.
September 29, 2016: European Journal of Dermatology: EJD
Ge Zhao, Kachiu C Lee, Sue Peacock, Lisa M Reisch, Stevan R Knezevich, David E Elder, Michael W Piepkorn, Joann G Elmore, Raymond L Barnhill
BACKGROUND: Spitz nevi, atypical Spitz tumors and spitzoid melanomas ("spitzoid lesions") represent controversial and poorly understood cutaneous melanocytic lesions that are difficult to diagnose histologically. It is unknown how these terms are used by pathologists. METHODS: We describe use of Spitz-related terminology using data from the Melanoma Pathology (M-Path) study database comprising pathologists' interpretations of biopsy slides, a nation-wide study evaluating practicing U...
September 30, 2016: Journal of Cutaneous Pathology
Jonathan Oh, Minal Barve, Carolyn M Matthews, E Colin Koon, Thomas P Heffernan, Bruce Fine, Elizabeth Grosen, Melanie K Bergman, Evelyn L Fleming, Leslie R DeMars, Loyd West, Daniel L Spitz, Howard Goodman, Kenneth C Hancock, Gladice Wallraven, Padmasini Kumar, Ernest Bognar, Luisa Manning, Beena O Pappen, Ned Adams, Neil Senzer, John Nemunaitis
OBJECTIVES: The majority of women with Stage III/IV ovarian cancer who achieve clinical complete response with frontline standard of care will relapse within 2years. Vigil immunotherapy, a GMCSF/bi-shRNA furin DNA engineered autologous tumor cell (EATC) product, demonstrated safety and induction of circulating activated T-cells against autologous tumor in Phase I trial Senzer et al. (2012, 2013) . Our objectives for this study include evaluation of safety, immune response and recurrence free survival (RFS)...
September 24, 2016: Gynecologic Oncology
L A Agostinho, M Spitz, J S Pereira, C L A Paiva
The aim of this study was to investigate a Brazilian family carrying full penetrance alleles for Huntington's disease (HD) in order to correlate each member's genetic and clinical features. To this end, the following scales were administered in each patient: the Beck Depression Inventory, the Mini-Mental State Examination (MMSE) and the Unified Huntington's Disease Rating Scale (UHDRS). The patterns of CAG and CCG polymorphic regions in the HTT gene were determined, the disease burden score was calculated, and genotypes were correlated with phenotypes within this family...
July 2016: Functional Neurology
B G Allen, J D Schoenfeld, Z A Sibenaller, K A Mapuskar, M Furqan, T Abu Hejleh, B Wagner, J J Cullen, G R Buettner, J Buatti, D Spitz
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
Nicholas Latchana, Kelly Regan, John Harrison Howard, Jennifer H Aldrink, Mark A Ranalli, Sara B Peters, Xiaoli Zhang, Alejandro Gru, Philip R O Payne, Lorena P Suarez-Kelly, William E Carson
BACKGROUND: Melanoma skin cancer remains the leading cause of skin cancer-related deaths. Spitz lesions represent a subset of melanocytic skin lesions characterized by epithelioid or spindled melanocytes organized in nests. These lesions occupy a spectrum ranging from benign Spitz and atypical Spitz lesions all the way to malignant Spitz tumors. Appropriate management is reliant on accurate diagnostic classification, yet this effort remains challenging using current light microscopic techniques...
October 2016: Journal of Surgical Research
Samuel N Rodman, Jacquelyn M Spence, Tyler J Ronnfeldt, Yueming Zhu, Shane R Solst, Rebecca A O'Neill, Bryan G Allen, Xiangming Guan, Douglas R Spitz, Melissa A Fath
The goal of this study was to determine if depletion of glutathione (GSH) and inhibition of thioredoxin (Trx) reductase (TrxR) activity could enhance radiation responses in human breast cancer stem cells by a mechanism involving thiol-dependent oxidative stress. The following were used to inhibit GSH and Trx metabolism: buthionine sulfoximine (BSO), a GSH synthesis inhibitor; sulfasalazine (SSZ), an inhibitor of xc(-) cysteine/glutamate antiporter; auranofin (Au), a thioredoxin reductase inhibitor; or 2-AAPA, a GSH-reductase inhibitor...
September 19, 2016: Radiation Research
N Scheiba, W Hartschuh
No abstract text is available yet for this article.
September 2016: British Journal of Dermatology
Alfredo Agulló, Brian Hinds, Raquel Santesteban, Josune Mitxelena Mitxelena, Ignacio Yanguas
Agminated melanocytic nevus is an uncommon type of mole, characterized by a local group of macular or papular pigmented lesions, well demarcated, without a common pigmented background. This pattern has also been associated with Spitz nevi, dysplastic melanocytic nevi, and non-melanocytic lesions.We describe the onset of an acquired agminated melanocytic nevus after dabrafenib treatment. Our case highlights paradoxical MAPK activation in the setting of single-agent BRAF blockade and underscores the importance of characterizing the diverse side effects of selective BRAF inhibitors...
2016: Dermatology Online Journal
Thomas L Diepgen
Berufsbedingte Hautkrankheiten nach BK-Nr. 5101 stehen in Deutschland seit vielen Jahren an der Spitze der angezeigten Berufskrankheiten. Durch die Optimierung von Maßnahmen der primären, sekundären und tertiären Prävention können heutzutage die meisten Betroffenen im Beruf verbleiben. Zum 01.01.2015 wurde die Berufskrankheitenverordnung (BKV) novelliert und es wurde die BK-Nr. 5103 "Plattenepithelkarzinome oder multiple aktinische Keratosen der Haut durch natürliche UV-Strahlung" als neue Berufskrankheit in die BK-Liste der BKV aufgenommen...
September 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Aaron Spitz, Marc Gittelman, Lawrence I Karsh, Sanja Dragnic, Ahmed M Soliman, Aditya Lele, Damian Gruca, Michael Norton
INTRODUCTION: Androgen deprivation therapy (ADT) with gonadotropin-releasing hormone (GnRH) analogs is a standard treatment for advanced prostate cancer. GnRH analog therapy can reduce testosterone to "castrate" levels, historically defined as <50 ng/dL. With the advent of newer assays, a lower threshold of <20 ng/dL has recently been proposed. We report the results of a retrospective analysis of two Phase III trials of 4- and 6-month depot microsphere formulations of leuprolide acetate (LA), a GnRH agonist that has previously demonstrated efficacy in testosterone suppression to <50 ng/dL in patients on ADT...
2016: Research and Reports in Urology
Jianxin Xia, Yanlong Wang, Fuqiu Li, Jinfeng Wang, Yan Mu, Xianglin Mei, Xue Li, Wenjing Zhu, Xianhua Jin, Kai Yu
Malignant melanoma (MM) is a type of malignant tumor, which originates from neural crest melanocytes. MM progresses rapidly and results in a high mortality rate. The present study aims to investigate the expression of microphthalmia transcription factor (MITF), the S100 protein, and HMB-45 in MM and pigmented nevi. A total of 32 MM samples (including three skin metastasis, three lymph node metastasis and two spindle cell MM samples), two Spitz nevus samples, four pigmented nevus samples and two blue nevus samples were collected...
September 2016: Biomedical Reports
B E Swartz, J Spitz, A L Vu, M Mandelkern, M L Su
OBJECTIVE: To investigate brain volumes in patients with well-characterized juvenile myoclonic epilepsy (JME). MATERIALS AND METHODS: We studied the MRI images of seventeen subjects with EEG and clinically defined JME and seventeen age- and sex-matched controls using voxel-based morphometry (VBM) and automated and manual volumetry. RESULTS: We found no significant group differences in the cortical volumes by automated techniques for all regions or for the whole brain...
October 2016: Acta Neurologica Scandinavica
O Aviv, H B Spitz, H Datz, G Haquin, Y Shamai, E Daniely, Z Yungrais, J Koch
The performance characteristics of a shadow-shield whole-body counter system with an array of four high-resolution germanium detectors using whole-body and organ-specific (lungs, liver, head, knee and thyroid) physical phantoms are described. Detection efficiency and minimum detectable activities for selected radionuclides and several measurement configurations are presented. Results demonstrate that the system meets the requirements for direct radio bioassay and that detection efficiency and minimum detectable activities are similar in magnitude to other whole-body (or organ) counting systems installed in fully shielded structures...
September 2, 2016: Radiation Protection Dosimetry
R Taylor Raborn, Ken Spitze, Volker P Brendel, Michael Lynch
Large-scale transcription start site (TSS) profiling produces a high-resolution, quantitative picture of transcription initiation and core promoter locations within a genome. However, application of TSS profiling to date has largely been restricted to a small set of prominent model systems. We sought to characterize the cis-regulatory landscape of the water flea Daphnia pulex, an emerging model arthropod that reproduces both asexually (via parthenogenesis) and sexually (via meiosis). We performed Cap Analysis of Gene Expression (CAGE) with RNA isolated from D...
October 2016: Genetics
Paul W Harms, Thomas L Hocker, Lili Zhao, May P Chan, Aleodor A Andea, Min Wang, Kelly L Harms, Michael L Wang, Shannon Carskadon, Nallasivam Palanisamy, Douglas R Fullen
Spitzoid melanocytic lesions, including Spitz nevi (benign), spitzoid melanoma (malignant), and borderline atypical Spitz tumors (ASTs), frequently present challenges for accurate diagnosis and prognosis. Evaluation for loss of the tumor suppressor p16, encoded by CDKN2A gene on chromosome 9p21.3, has been proposed to be useful for evaluation of spitzoid melanocytic lesions. However, reports on the utility of p16 immunohistochemistry for spitzoid lesions have been conflicting, and few studies have directly compared p16 immunohistochemistry with fluorescence in situ hybridization (FISH) for CDKN2A genomic status...
August 25, 2016: Human Pathology
Leo Anthony Celi, Sharukh Lokhandwala, Robert Montgomery, Christopher Moses, Tristan Naumann, Tom Pollard, Daniel Spitz, Robert Stretch
BACKGROUND: Datathons facilitate collaboration between clinicians, statisticians, and data scientists in order to answer important clinical questions. Previous datathons have resulted in numerous publications of interest to the critical care community and serve as a viable model for interdisciplinary collaboration. OBJECTIVE: We report on an open-source software called Chatto that was created by members of our group, in the context of the second international Critical Care Datathon, held in September 2015...
2016: Journal of Medical Internet Research
Gershon Spitz, Yvette Alway, Kate Rachel Gould, Jennie L Ponsford
Traumatic brain injury (TBI) is associated with an elevated frequency of mood disorders that may, in part, be explained by changes in white-matter microstructure. This study is the first to examine the relationship between mood disorders and white-matter pathology in a sample of patients with mild to severe TBI using a standardized psychiatric interview. This study reports on a sub-sample of 29 individuals recruited from a large prospective study that examined the evolution of psychiatric disorders following complicated, mild to severe TBI...
October 6, 2016: Journal of Neurotrauma
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