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https://www.readbyqxmd.com/read/27913435/idh2-mutations-define-a-unique-subtype-of-breast-cancer-with-altered-nuclear-polarity
#1
Sarah Chiang, Britta Weigelt, Huei-Chi Wen, Fresia Pareja, Ashwini Raghavendra, Luciano G Martelotto, Kathleen A Burke, Thais Basili, Anqi Li, Felipe C Geyer, Salvatore Piscuoglio, Charlotte K Y Ng, Achim A Jungbluth, Jörg Balss, Stefan Pusch, Gabrielle M Baker, Kimberly S Cole, Andreas von Deimling, Julie M Batten, Jonathan D Marotti, Hwei-Choo Soh, Benjamin L McCalip, Jonathan Serrano, Raymond S Lim, Kalliopi P Siziopikou, Song Lu, Xiaolong Liu, Tarek Hammour, Edi Brogi, Matija Snuderl, A John Iafrate, Jorge S Reis-Filho, Stuart J Schnitt
Solid papillary carcinoma with reverse polarity (SPCRP) is a rare breast cancer subtype with an obscure etiology. In this study, we sought to describe its unique histopathologic features and to identify the genetic alterations that underpin SPCRP using massively parallel whole-exome and targeted sequencing. The morphologic and immunohistochemical features of SPCRP support the invasive nature of this subtype. Ten of 13 (77%) SPCRPs harbored hotspot mutations at R172 of the isocitrate dehydrogenase IDH2, of which 8 of 10 displayed concurrent pathogenic mutations affecting PIK3CA or PIK3R1 One of the IDH2 wild-type SPCRPs harbored a TET2 Q548* truncating mutation coupled with a PIK3CA H1047R hotspot mutation...
October 20, 2016: Cancer Research
https://www.readbyqxmd.com/read/27895260/coordination-polymers-and-metal-organic-frameworks-materials-by-design
#2
Stuart R Batten, Neil R Champness
No abstract text is available yet for this article.
January 13, 2017: Philosophical Transactions. Series A, Mathematical, Physical, and Engineering Sciences
https://www.readbyqxmd.com/read/27881166/using-the-social-amoeba-dictyostelium-to-study-the-functions-of-proteins-linked-to-neuronal-ceroid-lipofuscinosis
#3
REVIEW
Robert J Huber
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation of ceroid lipofuscin in neurons, as well as other cell types outside of the central nervous system. The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several proteins that display different subcellular localizations (CLN3, CLN6, MFSD8/CLN7, CLN8, ATP13A2/CLN12)...
November 24, 2016: Journal of Biomedical Science
https://www.readbyqxmd.com/read/27850212/572-what-does-treatable-mean-a-qualitative-study-of-physician-patient-communication
#4
Katherine Kruse, Jason Batten, Stephanie Kraft, Bela Fishbeyn, David Magnus
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27804148/efficacy-of-phosphodiesterase-4-inhibitors-in-juvenile-batten-disease-cln3
#5
Amy Aldrich, Megan E Bosch, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kakulavarapu V Rama Rao, Jonathan D Cooper, Arlene V Drack, Tammy Kielian
OBJECTIVE: Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategies to extend the survival and quality of life of afflicted children. Cyclic adenosine monophosphate (cAMP) is a second messenger with pleiotropic effects, including regulating neuroinflammation and neuronal survival...
November 2, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27766444/flunarizine-rescues-reduced-lifespan-in-cln3-triple-knock-out-caenorhabditis-elegans-model-of-batten-disease
#6
Young Joon Kwon, Marni J Falk, Michael J Bennett
CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. While no precise biochemical mechanism or therapies are known, the pathogenesis of CLN3 disease involves intracellular calcium accumulation that may trigger apoptosis. Our prior work in in vitro cell models of CLN3 deficiency suggested that FDA-approved calcium channel antagonists may have therapeutic value...
October 20, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27744565/a-phase-i-study-to-determine-the-pharmacokinetics-and-urinary-excretion-of-belinostat-and-metabolites-in-patients-with-advanced-solid-tumors
#7
Hanna Bailey, Jordan P McPherson, Erin B Bailey, Theresa L Werner, Sumati Gupta, Julia Batten, Guru Reddy, Gajanan Bhat, Sunil Sharma, Neeraj Agarwal
PURPOSE: Belinostat is an inhibitor of histone deacetylase enzymes, resulting in DNA repair inhibition and apoptosis. Present data are lacking to provide dosing recommendations in renal insufficiency. The purpose of this trial was to assess the pharmacokinetics (PK) of belinostat and belinostat metabolites in plasma and urine. METHODS: This was a phase I, single-center, open-label, two-part study. In Part I, patients received single-agent belinostat 1000 mg/m(2)...
October 15, 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/27669405/aberrant-adhesion-impacts-early-development-in-a-dictyostelium-model-for-juvenile-neuronal-ceroid-lipofuscinosis
#8
Robert J Huber, Michael A Myre, Susan L Cotman
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, refers to a group of severe neurodegenerative disorders that primarily affect children. The most common subtype of the disease is caused by loss-of-function mutations in CLN3, which is conserved across model species from yeast to human. The precise function of the CLN3 protein is not known, which has made targeted therapy development challenging. In the social amoeba Dictyostelium discoideum, loss of Cln3 causes aberrant mid-to-late stage multicellular development...
September 26, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/27665766/porous-polyrotaxane-coordination-networks-containing-two-distinct-conformers-of-a-discontinuously-flexible-ligand
#9
Chris S Hawes, Gregory P Knowles, Alan L Chaffee, Keith F White, Brendan F Abrahams, Stuart R Batten, David R Turner
A new divergent homopiperazine-derived ligand N,N'-bis(4-carboxyphenyl)-1,4-diazacycloheptane H2L has been prepared, containing a semirigid saturated heterocyclic core which is capable of providing multiple distinct bridging geometries. Reaction of H2L with zinc acetate in DMSO gives a two-dimensional parallel interpenetrated polyrotaxane structure 1 in which the loops and rods are formed by the bent cis-(eq,ax) twist boat and trans-(ax,ax) twist chair conformers, respectively. By matching the distances between the solvated metal sites in the structure of 1, a related material 2 can be prepared incorporating the pillaring ligand trans-1,2-bis(4-pyridyl)ethylene bpe...
October 17, 2016: Inorganic Chemistry
https://www.readbyqxmd.com/read/27650421/did-massachusetts-health-reform-affect-veterans-affairs-primary-care-use
#10
Edwin S Wong, Matthew L Maciejewski, Paul L Hebert, Adam Batten, Karin M Nelson, Stephan D Fihn, Chuan-Fen Liu
Massachusetts Health Reform (MHR), implemented in 2006, introduced new health insurance options that may have prompted some veterans already enrolled in the Veterans Affairs Healthcare System (VA) to reduce their reliance on VA health services. This study examined whether MHR was associated with changes in VA primary care (PC) use. Using VA administrative data, we identified 147,836 veterans residing in Massachusetts and neighboring New England (NE) states from October 2004 to September 2008. We applied difference-in-difference methods to compare pre-post changes in PC use among Massachusetts and other NE veterans...
September 20, 2016: Medical Care Research and Review: MCRR
https://www.readbyqxmd.com/read/27619997/il-27-directly-enhances-germinal-center-b-cell-activity-and-potentiates-lupus-in-sanroque-mice
#11
Dipti Vijayan, Norhanani Mohd Redzwan, Danielle T Avery, Rushika C Wirasinha, Robert Brink, Giles Walters, Stephen Adelstein, Masao Kobayashi, Paul Gray, Michael Elliott, Melanie Wong, Cecile King, Carola G Vinuesa, Nico Ghilardi, Cindy S Ma, Stuart G Tangye, Marcel Batten
Germinal centers (GC) give rise to high-affinity and long-lived Abs and are critical in immunity and autoimmunity. IL-27 supports GCs by promoting survival and function of T follicular helper cells. We demonstrate that IL-27 also directly enhances GC B cell function. Exposure of naive human B cells to rIL-27 during in vitro activation enhanced their differentiation into CD20(+)CD38(+)CD27(low)CD95(+)CD10(+) cells, consistent with the surface marker phenotype of GC B cells. This effect was inhibited by loss-of-function mutations in STAT1 but not STAT3 To extend these findings, we studied the in vivo effects of IL-27 signals to B cells in the GC-driven Roquin(san/san) lupus mouse model...
September 12, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27615017/over-the-scope-clip-closure-of-gastrocutaneous-fistula
#12
Eduardo Rodrigues-Pinto, Pedro Pereira, Filipe Vilas-Boas, Guilherme Macedo
A 35-year-old female patient, with Batten's disease, submitted to a surgical gastrostomy in 2005, and had it replaced in 2007, 2011 and 2014 with one with a filled balloon as its internal retention mechanism. In 2015, she presented to the emergency room due to stomal enlargement, leakage and chemical dermatitis and cellulitis. A 12 mm over-the-scope clip was placed, after anchoring the fistula edges with the twin grasper and suction of the defect into the applicator cap. Endoscopic resolution of the fistula was achieved...
September 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27561225/promoting-help-seeking-to-veterans
#13
Elizabeth Karras, Naiji Lu, Heather Elder, Xin Tu, Caitlin Thompson, Wendy Tenhula, Sonja V Batten, Robert M Bossarte
BACKGROUND: Few studies have considered different messaging strategies that may augment campaign efficacy to generate help-seeking behaviors among populations at increased risk for suicide, mainly US military veterans. AIMS: Findings are presented from the pilot evaluation of the It's Your Call campaign implemented by the Department of Veterans Affairs (VA). Three messaging strategies (with varying intensity and mix of messages) were compared to explore which best promote use of the Veterans Crisis Line (VCL) among veteran populations...
August 26, 2016: Crisis
https://www.readbyqxmd.com/read/27539227/organotypic-culture-in-three-dimensions-prevents-radiation-induced-transformation-in-human-lung-epithelial-cells
#14
Mariam El-Ashmawy, Melissa Coquelin, Krishna Luitel, Kimberly Batten, Jerry W Shay
The effects of radiation in two-dimensional (2D) cell culture conditions may not recapitulate tissue responses as modeled in three-dimensional (3D) organotypic culture. In this study, we determined if the frequency of radiation-induced transformation and cancer progression differed in 3D compared to 2D culture. Telomerase immortalized human bronchial epithelial cells (HBECs) with shTP53 and mutant KRas expression were exposed to various types of radiation (gamma, (+)H, (56)Fe) in either 2D or 3D culture. After irradiation, 3D structures were dissociated and passaged as a monolayer followed by measurement of transformation, cell growth and expression analysis...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27488642/an-eeg-investigation-of-sleep-homeostasis-in-healthy-and-cln5-batten-disease-affected-sheep
#15
Nicholas Perentos, Amadeu Q Martins, Robin J M Cumming, Nadia L Mitchell, David N Palmer, Stephen J Sawiak, A Jennifer Morton
UNLABELLED: Sheep have large brains with human-like anatomy, making them a useful species for studying brain function. Sleep homeostasis has not been studied in sheep. Here, we establish correlates of sleep homeostasis in sheep through a sleep deprivation experiment. We then use these correlates to elucidate the nature of sleep deficits in a naturally occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutation in CLN5 In humans, mutations in this gene lead to cortical atrophy and blindness, as well as sleep abnormalities...
August 3, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27484889/development-of-a-novel-reverse-transcription-loop-mediated-isothermal-amplification-assay-for-the-rapid-detection-of-african-horse-sickness-virus
#16
V L Fowler, E L A Howson, J Flannery, M Romito, A Lubisi, M Agüero, P Mertens, C A Batten, H R Warren, J Castillo-Olivares
African horse sickness (AHS) is a disease of equids caused by African Horse Sickness Virus (AHSV) and is transmitted by Culicoides midges. AHS is endemic in sub-Saharan Africa, but during the past century, outbreaks of significant economic importance and elevated mortality have been recorded in Northern African countries, the Iberian and Arabian Peninsula, the Middle East and the Indian subcontinent. Effective control combines the application of early warning systems, accurate laboratory diagnosis and reporting, animal movement restrictions, suitable vaccination and surveillance programs, and the coordination of all these measures by efficient veterinary services...
August 2, 2016: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/27477280/fatty-acid-oxidation-mediated-by-acyl-coa-synthetase-long-chain-3-is-required-for-mutant-kras-lung-tumorigenesis
#17
Mahesh S Padanad, Georgia Konstantinidou, Niranjan Venkateswaran, Margherita Melegari, Smita Rindhe, Matthew Mitsche, Chendong Yang, Kimberly Batten, Kenneth E Huffman, Jingwen Liu, Ximing Tang, Jaime Rodriguez-Canales, Neda Kalhor, Jerry W Shay, John D Minna, Jeffrey McDonald, Ignacio I Wistuba, Ralph J DeBerardinis, Pier Paolo Scaglioni
KRAS is one of the most commonly mutated oncogenes in human cancer. Mutant KRAS aberrantly regulates metabolic networks. However, the contribution of cellular metabolism to mutant KRAS tumorigenesis is not completely understood. We report that mutant KRAS regulates intracellular fatty acid metabolism through Acyl-coenzyme A (CoA) synthetase long-chain family member 3 (ACSL3), which converts fatty acids into fatty Acyl-CoA esters, the substrates for lipid synthesis and β-oxidation. ACSL3 suppression is associated with depletion of cellular ATP and causes the death of lung cancer cells...
August 9, 2016: Cell Reports
https://www.readbyqxmd.com/read/27471182/health-care-infrastructure-for-financially-sustainable-clinical-genomics
#18
Jochen K Lennerz, Heather M McLaughlin, Jason M Baron, David Rasmussen, Meini Sumbada Shin, Nancy Berners-Lee, Julie Miller Batten, Kathryn J Swoboda, Manish K Gala, Harland S Winter, Jeremy D Schmahmann, David A Sweetser, Marianne Boswell, Maciej Pacula, Albrecht Stenzinger, Long P Le, William Hynes, Heidi L Rehm, Anne Klibanski, Stephen W Black-Schaffer, Jeffrey A Golden, David N Louis, Scott T Weiss, A John Iafrate
Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural code sets for whole-exome and genome sequencing is a milestone toward financially sustainable clinical implementation; however, achieving reimbursement is currently a major challenge. As part of a prospective quality-improvement initiative to implement the new code sets, we adopted Agile, a development methodology originally devised in software development...
September 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27434683/cns-restricted-transduction-and-crispr-cas9-mediated-gene-deletion-with-an-engineered-aav-vector
#19
Giridhar Murlidharan, Kensuke Sakamoto, Lavanya Rao, Travis Corriher, Dan Wang, Guangping Gao, Patrick Sullivan, Aravind Asokan
Gene therapy using recombinant adeno-associated viral (AAV) vectors is emerging as a promising approach to treat central nervous system disorders such as Spinal muscular atrophy, Batten, Parkinson and Alzheimer disease amongst others. A critical remaining challenge for central nervous system-targeted gene therapy, silencing or gene editing is to limit potential vector dose-related toxicity in off-target cells and organs. Here, we characterize a lab-derived AAV chimeric (AAV2g9), which displays favorable central nervous system attributes derived from both parental counterparts, AAV2 and AAV9...
2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27380564/secondary-cleft-nasal-deformity-correction-using-bioabsorbable-mesh
#20
Jeenam Kim, Junyeong Kim, Ki-Il Uhm, Donghyeok Shin, Soonheum Kim, Cheolkeun Kim, Dongin Jo, Hyungon Choi
INTRODUCTION: Septorhinoplasty in cleft patients is relatively difficult to perform and the outcomes are often unsatisfactory owing to weakness of the cartilage. Therefore, providing support to the cartilage is necessary. The authors used bioabsorbable mesh as a spreader or batten graft to support the septum in cleft patients those with weak cartilages. The purpose of this study was to evaluate the efficacy of bioabsorbable mesh when performing septorhinoplasty in cleft patients. METHODS: Between 2009 and 2013, 34 patients with cleft lip and nose underwent open septorhinoplasty by using bioabsorbable mesh at the Konkuk University Medical Center...
July 2016: Journal of Craniofacial Surgery
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