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https://www.readbyqxmd.com/read/29216536/myelodysplastic-syndromes-without-peripheral-monocytosis-but-with-evidence-of-marrow-monocytosis-share-clinical-and-molecular-characteristics-with-cmml
#1
E Schuler, F Frank, B Hildebrandt, B Betz, C Strupp, M Rudelius, C Aul, T Schroeder, N Gattermann, R Haas, U Germing
MDS patients may present with monocytic marrow proliferation not fulfilling criteria for CMML. We analyzed MDS patients with or without a marrow monocytic proliferation by following up the amount of monocytic proliferation and characterizing their molecular profile. 315 MDS patients of Duesseldorf MDS registry were divided into two groups: A) 183 patients with monocytic esterase positive cells in marrow and monocytes between 101 and 900/μl in blood and B) 132 patients without monocytic esterase positive cells in marrow and monocytes in blood ≤100/μl...
December 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29183826/developmental-ethanol-induced-sleep-fragmentation-behavioral-hyperactivity-cognitive-impairment-and-parvalbumin-cell-loss-are-prevented-by-lithium-co-treatment
#2
M Lewin, M Ilina, J Betz, K Masiello, M Hui, D A Wilson, M Saito
Developmental ethanol exposure is a well-known cause of lifelong cognitive deficits, behavioral hyperactivity, emotional dysregulation, and more. In healthy adults, sleep is thought to have a critical involvement in each of these processes. Our previous work has demonstrated that some aspects of cognitive impairment in adult mice exposed at postnatal day 7 (P7) to ethanol (EtOH) correlate with slow-wave sleep (SWS) fragmentation (Wilson et al., 2016). We and others have also previously demonstrated that co-treatment with LiCl on the day of EtOH exposure prevents many of the anatomical and physiological impairments observed in adults...
November 26, 2017: Neuroscience
https://www.readbyqxmd.com/read/29173819/bleb-expansion-in-migrating-cells-depends-on-supply-of-membrane-from-cell-surface-invaginations
#3
Mohammad Goudarzi, Katsiaryna Tarbashevich, Karina Mildner, Isabell Begemann, Jamie Garcia, Azadeh Paksa, Michal Reichman-Fried, Harsha Mahabaleshwar, Heiko Blaser, Johannes Hartwig, Dagmar Zeuschner, Milos Galic, Michel Bagnat, Timo Betz, Erez Raz
Cell migration is essential for morphogenesis, organ formation, and homeostasis, with relevance for clinical conditions. The migration of primordial germ cells (PGCs) is a useful model for studying this process in the context of the developing embryo. Zebrafish PGC migration depends on the formation of cellular protrusions in form of blebs, a type of protrusion found in various cell types. Here we report on the mechanisms allowing the inflation of the membrane during bleb formation. We show that the rapid expansion of the protrusion depends on membrane invaginations that are localized preferentially at the cell front...
November 21, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29145573/human-papillomavirus-hpv-and-somatic-egfr-mutations-are-essential-mutually-exclusive-oncogenic-mechanisms-for-inverted-sinonasal-papillomas-and-associated-sinonasal-squamous-cell-carcinomas
#4
A M Udager, J B McHugh, C M Goudsmit, H C Weigelin, M S Lim, K S J Elenitoba-Johnson, B L Betz, T E Carey, N A Brown
Background: Inverted sinonasal papilloma (ISP) is a locally aggressive neoplasm often associated with sinonasal squamous cell carcinoma (SNSCC). While the etiology of ISP is not well understood, human papillomavirus (HPV) has been detected in a subset of cases. Our group recently identified activating somatic EGFR mutations in the majority of ISP and ISP-associated SNSCC. However, the relationship between EGFR mutations and HPV infection has not been explored. Patients and Methods: We evaluated 58 ISP and 22 ISP-associated SNSCC (including 13 patients with matched ISP/SNSCC samples), as well as 14 SNSCC without clinical or pathologic evidence of an associated ISP...
November 14, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29122765/semiautomated-evaluation-of-the-primary-motor-cortex-in-patients-with-amyotrophic-lateral-sclerosis-at-3t
#5
G Donatelli, A Retico, E Caldarazzo Ienco, P Cecchi, M Costagli, D Frosini, L Biagi, M Tosetti, G Siciliano, M Cosottini
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis is a neurodegenerative disease involving the upper and lower motor neurons. In amyotrophic lateral sclerosis, pathologic changes in the primary motor cortex include Betz cell depletion and the presence of reactive iron-loaded microglia, detectable on 7T MR images as atrophy and T2*-hypointensity. Our purposes were the following: 1) to investigate the signal hypointensity-to-thickness ratio of the primary motor cortex as a radiologic marker of upper motor neuron involvement in amyotrophic lateral sclerosis with a semiautomated method at 3T, 2) to compare 3T and 7T results, and 3) to evaluate whether semiautomated measurement outperforms visual image assessment...
November 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29066223/application-of-speckle-tracking-echocardiography-in-an-experimental-model-of-isolated-subendocardial-damage
#6
Niklas Beyhoff, Sarah Brix, Iris R Betz, Robert Klopfleisch, Anna Foryst-Ludwig, Alexander Krannich, Philipp Stawowy, Fabian Knebel, Jana Grune, Ulrich Kintscher
BACKGROUND: The subendocardium is highly vulnerable to damage and is thus affected even in subclinical disease stages. Therefore, methods reflecting subendocardial status are of great clinical relevance for the early detection of cardiac damage and the prevention of functional impairment. The aim of this study was to investigate the potential ability of myocardial strain parameters to evaluate changes within the subendocardium. METHODS: Male 129/Sv mice were injected with isoproterenol (ISO; n = 32) to induce isolated subendocardial fibrotic lesions or saline as appropriate control (n = 15)...
October 21, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28978027/functional-dissection-of-breast-cancer-risk-associated-tert-promoter-variants
#7
Sonja Helbig, Leesa Wockner, Annick Bouendeu, Ursula Hille-Betz, Karen McCue, Juliet D French, Stacey L Edwards, Hilda A Pickett, Roger R Reddel, Georgia Chenevix-Trench, Thilo Dörk, Jonathan Beesley
The multi-cancer susceptibility locus at 5p15.33 includes TERT, encoding the telomerase catalytic subunit. Genome-wide association studies (GWAS) have identified six single nucleotide polymorphisms (SNPs) in the TERT promoter associated with decreased breast cancer risk, although the precise causal variants and their mechanisms of action have remained elusive. Luciferase reporter assays indicated that the protective haplotype reduced TERT promoter activity in human mammary epithelial and cancer cells in an estrogen-independent manner...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28931653/combined-ox40l-and-mtor-blockade-controls-effector-t-cell-activation-while-preserving-treg-reconstitution-after-transplant
#8
Victor Tkachev, Scott N Furlan, Benjamin Watkins, Daniel J Hunt, Hengqi Betty Zheng, Angela Panoskaltsis-Mortari, Kayla Betz, Melanie Brown, John B Schell, Katie Zeleski, Alison Yu, Ian Kirby, Sarah Cooley, Jeffrey S Miller, Bruce R Blazar, Duncan Casson, Phil Bland-Ward, Leslie S Kean
A critical question facing the field of transplantation is how to control effector T cell (Teff) activation while preserving regulatory T cell (Treg) function. Standard calcineurin inhibitor-based strategies can partially control Teffs, but breakthrough activation still occurs, and these agents are antagonistic to Treg function. Conversely, mechanistic target of rapamycin (mTOR) inhibition with sirolimus is more Treg-compatible but is inadequate to fully control Teff activation. In contrast, blockade of OX40L signaling has the capacity to partially control Teff activation despite maintaining Treg function...
September 20, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28931556/cancer-associated-fibroblasts-lead-tumor-invasion-through-integrin-%C3%AE-3-dependent-fibronectin-assembly
#9
Youmna Attieh, Andrew G Clark, Carina Grass, Sophie Richon, Marc Pocard, Pascale Mariani, Nadia Elkhatib, Timo Betz, Basile Gurchenkov, Danijela Matic Vignjevic
Cancer-associated fibroblasts (CAFs) are the most abundant cells of the tumor stroma. Their capacity to contract the matrix and induce invasion of cancer cells has been well documented. However, it is not clear whether CAFs remodel the matrix by other means, such as degradation, matrix deposition, or stiffening. We now show that CAFs assemble fibronectin (FN) and trigger invasion mainly via integrin-αvβ3. In the absence of FN, contractility of the matrix by CAFs is preserved, but their ability to induce invasion is abrogated...
November 6, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28877490/adaptive-response-of-actin-bundles-under-mechanical-stress
#10
Florian Rückerl, Martin Lenz, Timo Betz, John Manzi, Jean-Louis Martiel, Mahassine Safouane, Rajaa Paterski-Boujemaa, Laurent Blanchoin, Cécile Sykes
Actin is one of the main components of the architecture of cells. Actin filaments form different polymer networks with versatile mechanical properties that depend on their spatial organization and the presence of cross-linkers. Here, we investigate the mechanical properties of actin bundles in the absence of cross-linkers. Bundles are polymerized from the surface of mDia1-coated latex beads, and deformed by manipulating both ends through attached beads held by optical tweezers, allowing us to record the applied force...
September 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28857329/anesthetic-considerations-for-a-novel-anterior-surgical-approach-to-pediatric-scoliosis-correction
#11
Jonathan S Gal, Christopher J Curatolo, Jeron Zerillo, Bryan Hill, Baron Lonner, Laury A Cuddihy, M D Antonacci, Randal R Betz, Samuel DeMaria, Yury Khelemsky
BACKGROUND: Idiopathic scoliosis is a condition that may require surgical correction. Limitations of previous surgical modalities, however, created the need for novel methods of repair. One such technique, a newer form of anterolateral scoliosis correction, has shown considerable promise, which our center has had substantial experience performing. AIM: In this article, we present the case details of our first 105 patients for the purposes of describing the evolution and details of the anesthetic management and considerations for this procedure...
August 31, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28840857/detection-of-6-tfeb-amplified-renal-cell-carcinomas-and-25-renal-cell-carcinomas-with-mitf-translocations-systematic-morphologic-analysis-of-85-cases-evaluated-by-clinical-tfe3-and-tfeb-fish-assays
#12
Stephanie L Skala, Hong Xiao, Aaron M Udager, Saravana M Dhanasekaran, Sudhanshu Shukla, Yang Zhang, Carrie Landau, Lina Shao, Diane Roulston, Lisha Wang, Javed Siddiqui, Xuhong Cao, Cristina Magi-Galluzzi, Miao Zhang, Adeboye O Osunkoya, Steven C Smith, Jesse K McKenney, Bryan L Betz, Jeffrey L Myers, Arul M Chinnaiyan, Scott A Tomlins, Rohit Mehra
Renal cell carcinomas with MITF aberrations demonstrate a wide morphologic spectrum, highlighting the need to consider these entities within the differential diagnosis of renal tumors encountered in clinical practice. Herein, we describe our experience with application of clinical fluorescence in situ hybridization (FISH) assays for detection of TFE3 and TFEB gene aberrations from 85 consecutive renal cell carcinoma cases submitted to our genitourinary FISH service. Results from 170 FISH assays performed on these tumors were correlated with available clinicopathologic findings...
August 25, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28801771/morphology-and-ultrastructure-of-the-tarsal-adhesive-organs-of-the-madagascar-hissing-cockroach-gromphadorhina-portentosa
#13
Christian Schmitt, Oliver Betz
The present transmission and scanning electron microscopic study of the ultramorphology of the pliable attachment pads (arolium, euplantulae) of the Madagascar hissing cockroach Gromphadorhina portentosa reveals structural evidence for their function in producing, storing, and secreting an adhesion-mediating secretion and releasing it to the exterior. The exocrine epidermal tissue of both the arolium and the euplantula is significantly enlarged by numerous invaginations stretching into the hemolymph cavity...
November 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28744947/bmp-2-gene-activated-muscle-tissue-fragments-for-osteochondral-defect-regeneration-in-the-rabbit-knee
#14
Volker M Betz, Alexander Keller, Peter Foehr, Christian Thirion, Michael Salomon, Stefan Rammelt, Hans Zwipp, Rainer Burgkart, Volkmar Jansson, Peter E Müller, Oliver B Betz
BACKGROUND: Previously published data indicate that BMP-2 gene activated muscle tissue grafts can repair large bone defects in rats. This innovative abbreviated ex vivo gene therapy is appealing because it does not require elaborative and time-consuming extraction and expansion of cells. Hence, in the present study, we evaluated the potential of this expedited tissue engineering approach for regenerating osteochondral defects in rabbits. METHODS: Autologous muscle tissue grafts from female White New Zealand rabbits were directly transduced with an adenoviral BMP-2 vector or remained unmodified...
September 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28708250/cutaneous-syncytial-myoepithelioma-a-recently-described-neoplasm-which-may-mimic-nevoid-melanoma-and-epithelioid-sarcoma
#15
Ahmed K Alomari, Noah Brown, Aleodor A Andea, Bryan L Betz, Rajiv M Patel
Cutaneous syncytial myoepithelioma is a recently described rare tumor of the dermis. It is derived and composed purely of myoepithelial cells and shows a characteristic syncytial growth pattern of neoplastic cells with little intervening stroma and no recognizable ductal structures. It represents a diagnostic challenge to dermatopathologists given its rarity and unusual immunophenotype. Molecular testing for rearrangement of the EWSR1 gene plays a significant role in confirming the diagnosis in most cases. Herein, we present 2 cases with mundane clinical presentations and challenging histopathological findings...
October 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28651542/evidence-for-an-early-innate-immune-response-in-the-motor-cortex-of-als
#16
Javier H Jara, Barış Genç, Macdonell J Stanford, Peter Pytel, Raymond P Roos, Sandra Weintraub, M Marsel Mesulam, Eileen H Bigio, Richard J Miller, P Hande Özdinler
BACKGROUND: Recent evidence indicates the importance of innate immunity and neuroinflammation with microgliosis in amyotrophic lateral sclerosis (ALS) pathology. The MCP1 (monocyte chemoattractant protein-1) and CCR2 (CC chemokine receptor 2) signaling system has been strongly associated with the innate immune responses observed in ALS patients, but the motor cortex has not been studied in detail. METHODS: After revealing the presence of MCP1 and CCR2 in the motor cortex of ALS patients, to elucidate, visualize, and define the timing, location and the extent of immune response in relation to upper motor neuron vulnerability and progressive degeneration in ALS, we developed MCP1-CCR2-hSOD1(G93A) mice, an ALS reporter line, in which cells expressing MCP1 and CCR2 are genetically labeled by monomeric red fluorescent protein-1 and enhanced green fluorescent protein, respectively...
June 26, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28615534/functional-dissection-of-breast-cancer-risk-associated-tert-promoter-variants
#17
Sonja Helbig, Leesa Wockner, Annick Bouendeu, Ursula Hille-Betz, Karen McCue, Juliet D French, Stacey L Edwards, Hilda A Pickett, Roger R Reddel, Georgia Chenevix-Trench, Thilo Dörk, Jonathan Beesley
The multi-cancer susceptibility locus at 5p15.33 includes TERT, encoding the telomerase catalytic subunit. Genome-wide association studies (GWAS) have identified six single nucleotide polymorphisms (SNPs) in the TERT promoter associated with decreased breast cancer risk, although the precise causal variants and their mechanisms of action have remained elusive. Luciferase reporter assays indicated that the protective haplotype reduced TERT promoter activity in human mammary epithelial and cancer cells in an estrogen-independent manner...
May 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/28287404/mutations-in-%C3%AE-secretase-subunit-encoding-psenen-underlie-dowling-degos-disease-associated-with-acne-inversa
#18
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C Betz
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD...
April 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28241208/association-between-telomere-length-and-risk-of-cancer-and-non-neoplastic-diseases-a-mendelian-randomization-study
#19
Philip C Haycock, Stephen Burgess, Aayah Nounu, Jie Zheng, George N Okoli, Jack Bowden, Kaitlin Hazel Wade, Nicholas J Timpson, David M Evans, Peter Willeit, Abraham Aviv, Tom R Gaunt, Gibran Hemani, Massimo Mangino, Hayley Patricia Ellis, Kathreena M Kurian, Karen A Pooley, Rosalind A Eeles, Jeffrey E Lee, Shenying Fang, Wei V Chen, Matthew H Law, Lisa M Bowdler, Mark M Iles, Qiong Yang, Bradford B Worrall, Hugh Stephen Markus, Rayjean J Hung, Chris I Amos, Amanda B Spurdle, Deborah J Thompson, Tracy A O'Mara, Brian Wolpin, Laufey Amundadottir, Rachael Stolzenberg-Solomon, Antonia Trichopoulou, N Charlotte Onland-Moret, Eiliv Lund, Eric J Duell, Federico Canzian, Gianluca Severi, Kim Overvad, Marc J Gunter, Rosario Tumino, Ulrika Svenson, Andre van Rij, Annette F Baas, Matthew J Bown, Nilesh J Samani, Femke N G van t'Hof, Gerard Tromp, Gregory T Jones, Helena Kuivaniemi, James R Elmore, Mattias Johansson, James Mckay, Ghislaine Scelo, Robert Carreras-Torres, Valerie Gaborieau, Paul Brennan, Paige M Bracci, Rachel E Neale, Sara H Olson, Steven Gallinger, Donghui Li, Gloria M Petersen, Harvey A Risch, Alison P Klein, Jiali Han, Christian C Abnet, Neal D Freedman, Philip R Taylor, John M Maris, Katja K Aben, Lambertus A Kiemeney, Sita H Vermeulen, John K Wiencke, Kyle M Walsh, Margaret Wrensch, Terri Rice, Clare Turnbull, Kevin Litchfield, Lavinia Paternoster, Marie Standl, Gonçalo R Abecasis, John Paul SanGiovanni, Yong Li, Vladan Mijatovic, Yadav Sapkota, Siew-Kee Low, Krina T Zondervan, Grant W Montgomery, Dale R Nyholt, David A van Heel, Karen Hunt, Dan E Arking, Foram N Ashar, Nona Sotoodehnia, Daniel Woo, Jonathan Rosand, Mary E Comeau, W Mark Brown, Edwin K Silverman, John E Hokanson, Michael H Cho, Jennie Hui, Manuel A Ferreira, Philip J Thompson, Alanna C Morrison, Janine F Felix, Nicholas L Smith, Angela M Christiano, Lynn Petukhova, Regina C Betz, Xing Fan, Xuejun Zhang, Caihong Zhu, Carl D Langefeld, Susan D Thompson, Feijie Wang, Xu Lin, David A Schwartz, Tasha Fingerlin, Jerome I Rotter, Mary Frances Cotch, Richard A Jensen, Matthias Munz, Henrik Dommisch, Arne S Schaefer, Fang Han, Hanna M Ollila, Ryan P Hillary, Omar Albagha, Stuart H Ralston, Chenjie Zeng, Wei Zheng, Xiao-Ou Shu, Andre Reis, Steffen Uebe, Ulrike Hüffmeier, Yoshiya Kawamura, Takeshi Otowa, Tsukasa Sasaki, Martin Lloyd Hibberd, Sonia Davila, Gang Xie, Katherine Siminovitch, Jin-Xin Bei, Yi-Xin Zeng, Asta Försti, Bowang Chen, Stefano Landi, Andre Franke, Annegret Fischer, David Ellinghaus, Carlos Flores, Imre Noth, Shwu-Fan Ma, Jia Nee Foo, Jianjun Liu, Jong-Won Kim, David G Cox, Olivier Delattre, Olivier Mirabeau, Christine F Skibola, Clara S Tang, Merce Garcia-Barcelo, Kai-Ping Chang, Wen-Hui Su, Yu-Sun Chang, Nicholas G Martin, Scott Gordon, Tracey D Wade, Chaeyoung Lee, Michiaki Kubo, Pei-Chieng Cha, Yusuke Nakamura, Daniel Levy, Masayuki Kimura, Shih-Jen Hwang, Steven Hunt, Tim Spector, Nicole Soranzo, Ani W Manichaikul, R Graham Barr, Bratati Kahali, Elizabeth Speliotes, Laura M Yerges-Armstrong, Ching-Yu Cheng, Jost B Jonas, Tien Yin Wong, Isabella Fogh, Kuang Lin, John F Powell, Kenneth Rice, Caroline L Relton, Richard M Martin, George Davey Smith
Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015...
May 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28239380/development-of-three-different-nk-cell-subpopulations-during-immune-reconstitution-after-pediatric-allogeneic-hematopoietic-stem-cell-transplantation-prognostic-markers-in-gvhd-and-viral-infections
#20
Sabine Huenecke, Claudia Cappel, Ruth Esser, Verena Pfirrmann, Emilia Salzmann-Manrique, Sibille Betz, Eileen Keitl, Julia Banisharif-Dehkordi, Shahrzad Bakhtiar, Christoph Königs, Andrea Jarisch, Jan Soerensen, Evelyn Ullrich, Thomas Klingebiel, Peter Bader, Melanie Bremm
Natural killer (NK) cells play an important role following allogeneic hematopoietic stem cell transplantation (HSCT) exerting graft-versus-leukemia/tumor effect and mediating pathogen-specific immunity. Although NK cells are the first donor-derived lymphocytes reconstituting post-HSCT, their distribution of CD56(++)CD16(-) (CD56(bright)), CD56(++)CD16(+) (CD56(intermediate=int)), and CD56(+)CD16(++) (CD56(dim)) NK cells is explicitly divergent from healthy adults, but to some extent comparable to the NK cell development in early childhood...
2017: Frontiers in Immunology
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