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https://www.readbyqxmd.com/read/28165011/mtorc1-independent-tfeb-activation-via-akt-inhibition-promotes-cellular-clearance-in-neurodegenerative-storage-diseases
#1
Michela Palmieri, Rituraj Pal, Hemanth R Nelvagal, Parisa Lotfi, Gary R Stinnett, Michelle L Seymour, Arindam Chaudhury, Lakshya Bajaj, Vitaliy V Bondar, Laura Bremner, Usama Saleem, Dennis Y Tse, Deepthi Sanagasetti, Samuel M Wu, Joel R Neilson, Fred A Pereira, Robia G Pautler, George G Rodney, Jonathan D Cooper, Marco Sardiello
Neurodegenerative diseases characterized by aberrant accumulation of undigested cellular components represent unmet medical conditions for which the identification of actionable targets is urgently needed. Here we identify a pharmacologically actionable pathway that controls cellular clearance via Akt modulation of transcription factor EB (TFEB), a master regulator of lysosomal pathways. We show that Akt phosphorylates TFEB at Ser467 and represses TFEB nuclear translocation independently of mechanistic target of rapamycin complex 1 (mTORC1), a known TFEB inhibitor...
February 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28134644/management-of-rhinophyma-outcomes-study-of-the-subunit-method
#2
Aladdin H Hassanein, Raj M Vyas, Jessica Erdmann-Sager, Edward J Caterson, Julian J Pribaz
BACKGROUND: Rhinophyma causes a nasal deformity and functional airway obstruction. Partial excision (eg, tangential) with secondary healing commonly removes hypertrophic soft tissues but does not improve nasal support. The subunit method for rhinophyma uses 6 nasal flaps to provide exposure for removal of rhinophymatous tissue and enhance structure. The purpose of this study was to evaluate outcomes of subunit method. METHODS: Medical records of patients with rhinophyma treated with the subunit method between 2013 and 2016 were analyzed...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28131750/efficacy-of-eplerenone-in-the-management-of-mineralocorticoid-excess-in-men-with-metastatic-castration-resistant-prostate-cancer-treated-with-abiraterone-without-prednisone
#3
David Gill, David Gaston, Erin Bailey, Andrew Hahn, Sumati Gupta, Julia Batten, Anitha Alex, Kenneth Boucher, David Stenehjem, Neeraj Agarwal
BACKGROUND: Abiraterone acetate has been approved for metastatic castration-resistant prostate cancer (mCRPC). Coadministration with prednisone has been recommended to prevent the toxicity from secondary mineralocorticoid excess, such as hypertension, hypokalemia, and edema. However, the use of prednisone is often not desired by patients because of the potential for detrimental effects of long-term therapy with corticosteroids, especially in those with comorbidities such as diabetes or who have received previous immunotherapeutic agents...
January 5, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28079639/batten-stitch-a-tissue-sparing-technique-for-correction-of-an-inverted-dog-ear
#4
Michael B Mortazie, Jeremy C Davis, Richard G Bennett
No abstract text is available yet for this article.
January 10, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28065762/characterisation-of-early-changes-in-ovine-cln5-and-cln6-batten-disease-neural-cultures-for-the-rapid-screening-of-therapeutics
#5
Hannah L Best, Nicole J Neverman, Hollie E Wicky, Nadia L Mitchell, Beulah Leitch, Stephanie M Hughes
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are unknown. Here we characterise fetal neural cultures from two genetically distinct sheep forms of Batten disease, with mutations in the lysosomal protein encoding gene CLN5 and endoplasmic reticulum membrane protein encoding gene CLN6, respectively. We found similar reductions in autophagy, acidic organelles and synaptic recycling in both forms compared to unaffected cells...
January 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27913435/idh2-mutations-define-a-unique-subtype-of-breast-cancer-with-altered-nuclear-polarity
#6
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...
December 15, 2016: Cancer Research
https://www.readbyqxmd.com/read/27895260/coordination-polymers-and-metal-organic-frameworks-materials-by-design
#7
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
#8
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
#9
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
#10
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...
December 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
#11
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...
March 2017: 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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