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https://www.readbyqxmd.com/read/30335141/a-recurrent-missense-variant-in-slc9a7-causes-nonsyndromic-x-linked-intellectual-disability-with-alteration-of-golgi-acidification-and-aberrant-glycosylation
#1
Wujood Khayat, Anna Hackett, Marie Shaw, Alina Ilie, Tracy Dudding-Byth, Vera M Kalscheuer, Louise Christie, Mark A Corbett, Jane Juusola, Kathryn L Friend, Brian M Kirmse, Jozef Gecz, Michael Field, John Orlowski
We report two unrelated families with multigenerational nonsyndromic intellectual disability segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as NHE7). SLC9A7 is located on human X chromosome at Xp11.3 and has not yet been associated with a human phenotype. The gene is widely transcribed, but especially abundant in brain, skeletal muscle and various secretory tissues. Within cells, SLC9A7 resides in the Golgi apparatus, with prominent enrichment in the trans-Golgi network (TGN) and post-Golgi vesicles...
October 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30327475/tracing-the-transitions-from-pluripotency-to-germ-cell-fate-with-crispr-screening
#2
Jamie A Hackett, Yun Huang, Ufuk Günesdogan, Kristjan A Gretarsson, Toshihiro Kobayashi, M Azim Surani
Early mammalian development entails transit through naive pluripotency towards post-implantation epiblast, which subsequently gives rise to primordial germ cells (PGC), the founding germline population. To investigate these cell fate transitions, we developed a compound-reporter to track cellular identity in a model of PGC specification (PGC-like cells; PGCLC), and coupled it with genome-wide CRISPR screening. We identify key genes both for exit from pluripotency and for acquisition of PGC fate, and characterise a central role for the transcription regulators Nr5a2 and Zfp296 in germline ontogeny...
October 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/30315630/adenosine-a-1-receptor-mrna-expression-by-neurons-and-glia-in-the-auditory-forebrain
#3
Troy A Hackett
In the brain, purines such as ATP and adenosine can function as neurotransmitters and co-transmitters, or serve as signals in neuron-glial interactions. In thalamocortical (TC) projections to sensory cortex, adenosine functions as a negative regulator of glutamate release via activation of the presynaptic adenosine A1 receptor (A1 R). In the auditory forebrain, restriction of A1 R-adenosine signaling in medial geniculate (MG) neurons is sufficient to extend LTP, LTD, and tonotopic map plasticity in adult mice for months beyond the critical period...
October 12, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/30307743/evaluating-the-outcomes-of-rotator-cuff-repairs-with-polytetrafluoroethylene-patches-for-massive-and-irreparable-rotator-cuff-tears-with-a-minimum-2-year-follow-up
#4
Vasanth Seker, Lisa Hackett, Patrick H Lam, George A C Murrell
BACKGROUND: Massive and irreparable rotator cuff tears are difficult to manage surgically. One technique is to use a synthetic polytetrafluoroethylene (PTFE) patch to bridge the tear. However, there is little information regarding the outcomes of this procedure. PURPOSE: To determine the ≥2-year outcomes of patients for whom synthetic patches were used as tendon substitutes to bridge irreparable rotator cuff defects. STUDY DESIGN: Case series; Level of evidence, 4...
October 11, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/30303064/written-progress-tests-in-postgraduate-psychiatry
#5
Adam B Joiner, Gareth Thomas, Latha Hackett, Damien Longson
No abstract text is available yet for this article.
October 10, 2018: Irish Journal of Psychological Medicine
https://www.readbyqxmd.com/read/30272481/assessing-the-efficacy-of-maropitant-versus-ondansetron-in-the-treatment-of-dogs-with-parvoviral-enteritis
#6
Lauren A Sullivan, Jamie P Lenberg, Pedro Boscan, Timothy B Hackett, David C Twedt
Antiemetics are commonly prescribed during the treatment of canine parvoviral enteritis. This blinded, randomized prospective study compared the quality of clinical recovery and duration of hospitalization in canine parvoviral dogs receiving either maropitant (1 mg/kg [0.45 mg/lb] IV q 24 hr, n = 11) or ondansetron (0.5 mg/kg [0.23 mg/lb] IV q 8 hr, n = 11). All dogs were treated with IV fluids, cefoxitin, and enteral nutrition. Frequency of vomiting and pain scoring were recorded twice daily. Rescue analgesics and antiemetics were administered as dictated by specific pain and vomiting criteria...
October 1, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/30267613/exercising-upper-respiratory-videoendoscopic-findings-of-50-competition-draught-horses-with-abnormal-respiratory-noise-and-or-poor-performance
#7
E S Hackett, B S Leise
BACKGROUND: Upper respiratory tract (URT) endoscopy at rest is commonly utilised to evaluate competition draught horses with URT conditions. Overground endoscopy might be preferred for draught horse URT evaluation as it allows the horses to be driven with harness, overcheck, and cart-load under similar conditions to those experienced in the show ring where airway conditions are most prominent. OBJECTIVE: To describe the exercising URT findings of competition draught horses with abnormal respiratory noise and/or poor performance...
September 29, 2018: Equine Veterinary Journal
https://www.readbyqxmd.com/read/30267429/surgical-management-of-postcastration-spermatic-cord-stump-infection-in-horses-a-retrospective-study-of-23-cases
#8
Elaine F Claffey, Katherine Brust, Richard P Hackett, Susan Fubini
OBJECTIVE: To report the surgical management and the short- and long-term follow-up of postcastration spermatic cord infection in horses. STUDY DESIGN: Retrospective case series. ANIMALS: Twenty-three client-owned horses. METHODS: Medical records (2001-2017) of horses that had been surgically treated for spermatic cord stump infection after castration were reviewed. Time from castration to presentation, diagnostic procedures, surgical complications, bacterial culture and ancillary testing, and survival to discharge were collected...
September 28, 2018: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/30265123/constraints-on-sub-gev-dark-matter-electron-scattering-from-the-darkside-50-experiment
#9
P Agnes, I F M Albuquerque, T Alexander, A K Alton, G R Araujo, D M Asner, M Ave, H O Back, B Baldin, G Batignani, K Biery, V Bocci, G Bonfini, W Bonivento, B Bottino, F Budano, S Bussino, M Cadeddu, M Cadoni, F Calaprice, A Caminata, N Canci, A Candela, M Caravati, M Cariello, M Carlini, M Carpinelli, S Catalanotti, V Cataudella, P Cavalcante, S Cavuoti, R Cereseto, A Chepurnov, C Cicalò, L Cifarelli, A G Cocco, G Covone, D D'Angelo, M D'Incecco, D D'Urso, S Davini, A De Candia, S De Cecco, M De Deo, G De Filippis, G De Rosa, M De Vincenzi, P Demontis, A V Derbin, A Devoto, F Di Eusanio, G Di Pietro, C Dionisi, M Downing, E Edkins, A Empl, A Fan, G Fiorillo, K Fomenko, D Franco, F Gabriele, A Gabrieli, C Galbiati, P Garcia Abia, C Ghiano, S Giagu, C Giganti, G K Giovanetti, O Gorchakov, A M Goretti, F Granato, M Gromov, M Guan, Y Guardincerri, M Gulino, B R Hackett, M H Hassanshahi, K Herner, B Hosseini, D Hughes, P Humble, E V Hungerford, Al Ianni, An Ianni, V Ippolito, I James, T N Johnson, Y Kahn, K Keeter, C L Kendziora, I Kochanek, G Koh, D Korablev, G Korga, A Kubankin, M Kuss, M La Commara, M Lai, X Li, M Lisanti, M Lissia, B Loer, G Longo, Y Ma, A A Machado, I N Machulin, A Mandarano, L Mapelli, S M Mari, J Maricic, C J Martoff, A Messina, P D Meyers, R Milincic, S Mishra-Sharma, A Monte, M Morrocchi, B J Mount, V N Muratova, P Musico, R Nania, A Navrer Agasson, A O Nozdrina, A Oleinik, M Orsini, F Ortica, L Pagani, M Pallavicini, L Pandola, E Pantic, E Paoloni, F Pazzona, K Pelczar, N Pelliccia, V Pesudo, E Picciau, A Pocar, S Pordes, S S Poudel, D A Pugachev, H Qian, F Ragusa, M Razeti, A Razeto, B Reinhold, A L Renshaw, M Rescigno, Q Riffard, A Romani, B Rossi, N Rossi, D Sablone, O Samoylov, W Sands, S Sanfilippo, M Sant, R Santorelli, C Savarese, E Scapparone, B Schlitzer, E Segreto, D A Semenov, A Shchagin, A Sheshukov, P N Singh, M D Skorokhvatov, O Smirnov, A Sotnikov, C Stanford, S Stracka, G B Suffritti, Y Suvorov, R Tartaglia, G Testera, A Tonazzo, P Trinchese, E V Unzhakov, M Verducci, A Vishneva, B Vogelaar, M Wada, T J Waldrop, H Wang, Y Wang, A W Watson, S Westerdale, M M Wojcik, M Wojcik, X Xiang, X Xiao, C Yang, Z Ye, C Zhu, A Zichichi, G Zuzel
We present new constraints on sub-GeV dark-matter particles scattering off electrons based on 6780.0 kg d of data collected with the DarkSide-50 dual-phase argon time projection chamber. This analysis uses electroluminescence signals due to ionized electrons extracted from the liquid argon target. The detector has a very high trigger probability for these signals, allowing for an analysis threshold of three extracted electrons, or approximately 0.05 keVee. We calculate the expected recoil spectra for dark matter-electron scattering in argon and, under the assumption of momentum-independent scattering, improve upon existing limits from XENON10 for dark-matter particles with masses between 30 and 100  MeV/c^{2}...
September 14, 2018: Physical Review Letters
https://www.readbyqxmd.com/read/30236048/attenuation-of-human-hypoxic-pulmonary-vasoconstriction-by-acetazolamide-and-methazolamide
#10
Lindsey M Boulet, Luc J Teppema, Heather K Hackett, Paolo B Dominelli, William Spencer Cheyne, Giulio S Dominelli, David C Irwin, Paul W Buehler, Jin Hyen Baek, Erik Richard Swenson, Glen Edward Foster
RATIONALE: Acetazolamide, a carbonic anhydrase inhibitor used for preventing altitude illness attenuates hypoxic pulmonary vasoconstriction (HPV) while improving oxygenation. Methazolamide, an analog of acetazolamide, is more lipophilic, has a longer half-life, and activates a major antioxidant transcription factor. However, its influence on the hypoxic pulmonary response in humans is unknown. OBJECTIVE: To determine if a clinically relevant dosing of methazolamide improves oxygenation, attenuates HPV and augments plasma antioxidant capacity in men exposed to hypoxia when compared to an established dosing of acetazolamide known to suppress HPV...
September 20, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/30221774/the-transformative-and-informative-nature-of-elections-representation-schism-and-exit
#11
Amber M Gaffney, Bryan Sherburne, Justin D Hackett, David E Rast, Zachary P Hohman
In democratic elections, constituents may view unconventional or non-prototypical candidates as attempting to reshape their national identity in the wrong direction. When a non-prototypical candidate actually steps into a leadership role, the group's consensual view of their prototype may shift to position this new leader as prototypical. This process should be bound in member consensus, evidenced by the leader's successful election. The current work examines American Republicans (N = 297) and Democrats (N = 322) before and after the 2016 US election...
September 17, 2018: British Journal of Social Psychology
https://www.readbyqxmd.com/read/30216622/long-term-testosterone-therapy-in-type-2-diabetes-is-associated-with-reduced-mortality-without-improvement-in-conventional-cardiovascular-risk-factors
#12
Geoffrey Hackett, Nigel Cole, Akhilesh Mulay, Richard C Strange, Sudarshan Ramachandran
OBJECTIVE: To further characterise the beneficial impact of testosterone replacement therapy (TRT) on the association between mortality and hypogonadism (HG) in men with type 2 diabetes (T2DM). We aimed to determine firstly, if changes in cardiovascular disease (CVD) risk factors following TRT play a role, secondly whether the reduction in mortality is lost following TRT discontinuation and finally, the presence of subgroups where benefit may be greater. MATERIALS AND METHODS: We studied 857 men with T2DM, screened for the BLAST RCT, over 3...
September 14, 2018: BJU International
https://www.readbyqxmd.com/read/30215482/using-the-framework-approach-to-analyse-qualitative-data-a-worked-example
#13
Alison Hackett, Karen Strickland
BACKGROUND: Data management and analysis are crucial stages in research, particularly qualitative research, which accumulates large volumes of data. There are various approaches that can be used to manage and analyse qualitative data, the framework approach being one example widely used in nursing research. AIMS: To consider the strengths and challenges of the framework approach and its application to practice. To help the novice researcher select an approach to thematic analysis...
September 21, 2019: Nurse Researcher
https://www.readbyqxmd.com/read/30210312/longitudinal-performance-of-senescence-accelerated-mouse-prone-strain-8-samp8-mice-in-an-olfactory-visual-water-maze-challenge
#14
Virginie Lam, Ryusuke Takechi, Matthew A Albrecht, Zachary John D'Alonzo, Liam Graneri, Mark J Hackett, Stephanie Coulson, Nicholas Fimognari, Michael Nesbit, John C L Mamo
Morris water maze (MWM) is widely used to assess cognitive deficits in pre-clinical rodent models. Latency time to reach escape platform is frequently reported, but may be confounded by deficits in visual acuity, or differences in locomotor activity. This study compared performance of Senescence Accelerated Mouse Prone-Strain 8 (SAMP8) and control Senescence Accelerated Mouse Resistant-Strain 1 (SAMR1) mice in classical MWM, relative to performance in a newly developed olfactory-visual maze testing protocol...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/30209900/long-term-testosterone-therapy-in-type-2-diabetes-is-associated-with-decreasing-waist-circumference-and-improving-erectile-function
#15
Geoffrey Hackett, Nigel Cole, Akhilesh Mulay, Richard C Strange, Sudarshan Ramachandran
PURPOSE: To describe the 4-year metabolic follow-up results from the BLAST study. MATERIALS AND METHODS: Baseline hemoglobin A1c (HbA1c), weight, and waist circumference (WC) data were recorded in 185 men recruited for the BLAST randomised controlled trial (RCT) and erectile function (EF) scores were also available in an additional 48 men screened for the RCT. Intra/inter-group associations between these parameters and testosterone replacement therapy (TRT) were assessed at 1) end of the RCT (30 weeks), 2) open-label phase (82 weeks), and 3) final assessment via non-parametric statistics...
September 12, 2018: World Journal of Men's Health
https://www.readbyqxmd.com/read/30192596/low-mass-dark-matter-search-with-the-darkside-50-experiment
#16
P Agnes, I F M Albuquerque, T Alexander, A K Alton, G R Araujo, D M Asner, M Ave, H O Back, B Baldin, G Batignani, K Biery, V Bocci, G Bonfini, W Bonivento, B Bottino, F Budano, S Bussino, M Cadeddu, M Cadoni, F Calaprice, A Caminata, N Canci, A Candela, M Caravati, M Cariello, M Carlini, M Carpinelli, S Catalanotti, V Cataudella, P Cavalcante, S Cavuoti, R Cereseto, A Chepurnov, C Cicalò, L Cifarelli, A G Cocco, G Covone, D D'Angelo, M D'Incecco, D D'Urso, S Davini, A De Candia, S De Cecco, M De Deo, G De Filippis, G De Rosa, M De Vincenzi, P Demontis, A V Derbin, A Devoto, F Di Eusanio, G Di Pietro, C Dionisi, M Downing, E Edkins, A Empl, A Fan, G Fiorillo, K Fomenko, D Franco, F Gabriele, A Gabrieli, C Galbiati, P Garcia Abia, Chiara Ghiano, S Giagu, C Giganti, G K Giovanetti, O Gorchakov, A M Goretti, F Granato, M Gromov, M Guan, Y Guardincerri, M Gulino, B R Hackett, M H Hassanshahi, K Herner, B Hosseini, D Hughes, P Humble, E V Hungerford, Al Ianni, An Ianni, V Ippolito, I James, T N Johnson, Y Kahn, K Keeter, C L Kendziora, I Kochanek, G Koh, D Korablev, G Korga, A Kubankin, M Kuss, M La Commara, M Lai, X Li, M Lisanti, M Lissia, B Loer, G Longo, Y Ma, A A Machado, I N Machulin, A Mandarano, L Mapelli, S M Mari, J Maricic, C J Martoff, A Messina, P D Meyers, R Milincic, S Mishra-Sharma, A Monte, M Morrocchi, B J Mount, V N Muratova, P Musico, R Nania, A Navrer Agasson, A O Nozdrina, A Oleinik, M Orsini, F Ortica, L Pagani, M Pallavicini, L Pandola, E Pantic, E Paoloni, F Pazzona, K Pelczar, N Pelliccia, V Pesudo, A Pocar, S Pordes, S S Poudel, D A Pugachev, H Qian, F Ragusa, M Razeti, A Razeto, B Reinhold, A L Renshaw, M Rescigno, Q Riffard, A Romani, B Rossi, N Rossi, D Sablone, O Samoylov, W Sands, S Sanfilippo, M Sant, R Santorelli, C Savarese, E Scapparone, B Schlitzer, E Segreto, D A Semenov, A Shchagin, A Sheshukov, P N Singh, M D Skorokhvatov, O Smirnov, A Sotnikov, C Stanford, S Stracka, G B Suffritti, Y Suvorov, R Tartaglia, G Testera, A Tonazzo, P Trinchese, E V Unzhakov, M Verducci, A Vishneva, B Vogelaar, M Wada, T J Waldrop, H Wang, Y Wang, A W Watson, S Westerdale, M M Wojcik, M Wojcik, X Xiang, X Xiao, C Yang, Z Ye, C Zhu, A Zichichi, G Zuzel
We present the results of a search for dark matter weakly interacting massive particles (WIMPs) in the mass range below 20  GeV/c^{2} using a target of low-radioactivity argon with a 6786.0 kg d exposure. The data were obtained using the DarkSide-50 apparatus at Laboratori Nazionali del Gran Sasso. The analysis is based on the ionization signal, for which the DarkSide-50 time projection chamber is fully efficient at 0.1  keVee. The observed rate in the detector at 0.5  keVee is about 1.5  event/keVee/kg/d and is almost entirely accounted for by known background sources...
August 24, 2018: Physical Review Letters
https://www.readbyqxmd.com/read/30185803/characterization-of-a-lung-epithelium-specific-e-cadherin-knock-out-model-implications-for-obstructive-lung-pathology
#17
S Post, I H Heijink, L Hesse, H K Koo, F Shaheen, M Fouadi, V N S Kuchibhotla, B N Lambrecht, A J M Van Oosterhout, T L Hackett, M C Nawijn
The airway epithelium regulates responses to aeroallergens, acting as a physical and immunological barrier. In asthma, epithelial barrier function and the expression of adherens junction protein E-cadherin is compromised, but it is unknown whether this is cause or consequence of the disease. We hypothesized that airway epithelial loss of E-cadherin is a critical step in the development of manifestations of asthma. We generated a transgenic mouse model with conditional loss of E-cadherin in lung epithelial cells at birth and onwards...
September 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30179083/clinical-features-diagnostic-methods-treatments-and-outcomes-associated-with-ingested-wires-in-the-abdomen-of-horses-16-cases-2002-2013
#18
Laura K Marley, Carl Soffler, Eileen S Hackett
OBJECTIVE To describe clinical features, diagnostic methods, treatments, and outcomes associated with ingested wire foreign bodies in the abdomen of horses. DESIGN Retrospective case series. ANIMALS 16 client-owned horses with ingested wire in their abdomens that were evaluated at a veterinary teaching hospital between April 2002 and February 2013. PROCEDURES Data for each case were collected from medical records and owners and then reviewed. Differences in clinicopathologic variables between horses that did (survivors) or did not (nonsurvivors) survive to discharge from the hospital were assessed...
September 15, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/30178544/lymphoma-survivors-experiences-at-the-end-of-treatment
#19
REVIEW
Fidelma Hackett, Maura Dowling
AIMS AND OBJECTIVES: To explore lymphoma survivors' experiences on their end of treatment and follow-up care at a large urban haematology centre in Ireland. METHODS: This was a qualitative study using semistructured interviews with lymphoma patients post-treatment (n = 14). Thematic analysis guided the analysis of interview data. The study adhered to the consolidated criteria for reporting qualitative research (COREQ) guidelines. FINDINGS: Five main themes were identified following analysis of the interview data: dealing with uncertainty, changed relationships, returning to work, extended recovery time and concerns for the future...
September 4, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/30176318/synergistic-transcriptional-changes-in-ampa-and-gaba-a-receptor-genes-support-compensatory-plasticity-following-unilateral-hearing-loss
#20
P Balaram, T A Hackett, D B Polley
Debilitating perceptual disorders including tinnitus, hyperacusis, phantom limb pain and visual release hallucinations may reflect aberrant patterns of neural activity in central sensory pathways following a loss of peripheral sensory input. Here, we explore short- and long-term changes in gene expression that may contribute to hyperexcitability following a sudden, profound loss of auditory input from one ear. We used fluorescence in situ hybridization to quantify mRNA levels for genes encoding AMPA and GABAA receptor subunits (Gria2 and Gabra1, respectively) in single neurons from the inferior colliculus (IC) and auditory cortex (ACtx)...
September 1, 2018: Neuroscience
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