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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149770/a-multicenter-retrospective-medical-record-review-of-x-linked-myotubular-myopathy-the-recensus-study
#2
Alan H Beggs, Barry J Byrne, Sabine de Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma S James, Nancy L Kuntz, Jennifer Simon, Lindsay C Swanson, Michele L Yang, Zi-Fan Yu, Sabrina W Yum, Suyash Prasad
INTRODUCTION: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. METHODS: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016. RESULTS: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients...
November 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29149730/divergence-of-insulin-superfamily-ligands-receptors-and-igf-binding-proteins-in-marine-versus-freshwater-stickleback-evidence-of-selection-in-known-and-novel-genes
#3
Tim Pellissier, Hend Al Nafea, Sara V Good
Three-spine stickleback (Gasterosteus aculeatus) is a teleost model for understanding genetic, physiological and morphological changes accompanying freshwater (FW) adaptation. There is growing evidence that the insulin superfamily plays important roles in traits involved in marine and FW adaptation. We performed a candidate gene analysis to look for evidence of selection on 33 insulin superfamily ligand-receptor genes and insulin-like growth factor binding proteins (Igfbp's) in stickleback. Using genotype data from 11 marine and 10 FW populations, we calculated the number of SNPs per site in regulatory and intronic regions, the number of synonymous and nonsynonymous mutations in coding regions, Wright's fixation index (Fst), and performed t-tests to identify SNPs with divergent genotype frequencies between marine/FW versus Atlantic/Pacific populations...
November 10, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/29149669/effective-clinical-classification-of-chronic-epilepsy-into-focal-and-generalized-a-cross-sectional-study
#4
Shambhu Kumar, Mamta Bhushan Singh, Garima Shukla, Sreenivas Vishnubhatla, M V Padma Srivastava, Vinay Goyal, Kameshwar Prasad, Victor Patterson
PURPOSE: Investigations such as EEG and brain imaging are often difficult to obtain in primary care settings of resource-limited regions impacting millions of epilepsy patients. We wanted to test the hypothesis that classification of chronic epilepsy into focal and generalized based on clinical history and examination alone would be comparable to making such a classification with additional inputs from EEG and brain imaging. METHODS: Two investigators independently classified consecutive chronic epilepsy patients into focal, generalized and unclassified epilepsy...
November 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29149416/history-of-histamine-releasing-factor-hrf-translationally-controlled-tumor-protein-tctp-including-a-potential-therapeutic-target-in-asthma-and-allergy
#5
Susan M MacDonald
Histamine-releasing factor (HRF) also known as translationally controlled tumor protein (TCTP) is a highly conserved, ubiquitous protein that has both intracellular and extracellular functions. Here we will highlight the subcloning of the molecule, its clinical implications, as well as an inducible-transgenic mouse. Particular attention will be paid to its extracellular functioning and its potential role as a therapeutic target in asthma and allergy. The cells and the cytokines that are produced when stimulated or primed by HRF/TCTP will be detailed as well as the downstream signaling pathway that HRF/TCTP elicits...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/29149404/the-translational-controlled-tumour-protein-tctp-biological-functions-and-regulation
#6
Ulrich-Axel Bommer
The Translational Controlled Tumour Protein TCTP (gene symbol TPT1, also called P21, P23, Q23, fortilin or histamine-releasing factor, HRF) is a highly conserved protein present in essentially all eukaryotic organisms and involved in many fundamental cell biological and disease processes. It was first discovered about 35 years ago, and it took an extended period of time for its multiple functions to be revealed, and even today we do not yet fully understand all the details. Having witnessed most of this history, in this chapter, I give a brief overview and review the current knowledge on the structure, biological functions, disease involvements and cellular regulation of this protein...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/29149389/autoregulation-in-paediatric-tbi-current-evidence-and-implications-for-treatment
#7
REVIEW
Joseph E Donnelly, Adam M H Young, Ken Brady
BACKGROUND: Children who survive acute traumatic brain injury are at risk of death from subsequent brain swelling and secondary injury. Strict physiologic management in the ICU after traumatic brain injury is believed to be key to survival, and cerebral perfusion pressure is a prominent aspect of post brain injury care. However, optimal cerebral perfusion pressure targets for children are not known. Autoregulation monitoring has been used to delineate individualized optimal perfusion pressures for patients with traumatic brain injury...
October 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29149379/efficacy-of-systemic-and-intratympanic-corticosteroid-combination-therapy-versus-intratympanic-or-systemic-therapy-in-patients-with-idiopathic-sudden-sensorineural-hearing-loss-a-randomized-controlled-trial
#8
Mohammadtaghi Khorsandi Ashtiani, Farzad Firouzi, Shahin Bastaninejad, Sasan Dabiri, Sevil Nasirmohtaram, Niloufar Saeedi, Hossein Ghazavi, Leyla Sahebi
OBJECTIVE: The present study was conducted to compare the rates of recovery from idiopathic sudden deafness after the treatment with oral and intratympanic corticosteroids in both mono and combination therapies. STUDY DESIGN: Triple-blind randomized clinical trial. SETTINGS: Tertiary referral hospital. SUBJECTS AND METHODS: A total of 112 patients who were admitted to the ENT emergency department randomly divided into three groups: an oral corticosteroid plus intratympanic placebo (systemic corticosteroid monotherapy group); an intratympanic corticosteroid plus oral placebo group (IT monotherapy group); and a combination therapy group (IT plus systemic combination group)...
November 17, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29149370/-hematological-diagnosis-in-the-corneal-consultation
#9
J Wasielica-Poslednik, A Gericke, M Munder, N Pfeiffer, W Lisch
This case report describes a diagnostic chain in a patient with atypical bilateral corneal opacity, which led to the diagnosis of a hematological disorder. The patient's medical history, clinical appearance and findings in confocal microscopy gave rise to the suspicion of a paraproteinemic keratopathy. The hematological laboratory diagnostics revealed a monoclonal gammopathy of the IgG kappa type. The bone marrow puncture led to the diagnosis of a lymphoplasmacytic lymphoma, which belongs to the group of B‑cell non-Hodgkin's lymphomas...
November 17, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29149314/how-the-introduction-of-a-human-resources-information-system-helped-the-democratic-republic-of-congo-to-mobilise-domestic-resources-for-an-improved-health-workforce
#10
Jean-Robert Likofata Esanga, Claire Viadro, Leah McManus, Jennifer Wesson, Nicaise Matoko, Epiphane Ngumbu, Kate E Gilroy, Daren Trudeau
The Democratic Republic of Congo has flagged health workforce management and compensation as issues requiring attention, including the problem of ghost workers (individuals on payroll who do not exist and/or show up at work). Recognising the need for reliable health workforce information, the government has worked to implement iHRIS, an open source human resources information system that facilitates health workforce management. In Kasaï Central and Kasaï Provinces, health workers brought relevant documentation to data collection points, where trained teams interviewed them and entered contact information, identification, photo, current job, and employment and education history into iHRIS on laptops...
November 1, 2017: Health Policy and Planning
https://www.readbyqxmd.com/read/29149313/how-do-health-workers-experience-and-cope-with-shocks-learning-from-four-fragile-and-conflict-affected-health-systems-in-uganda-sierra-leone-zimbabwe-and-cambodia
#11
Sophie Witter, Haja Wurie, Pamela Chandiwana, Justine Namakula, Sovannarith So, Alvaro Alonso-Garbayo, Freddie Ssengooba, Joanna Raven
This article is grounded in a research programme which set out to understand how to rebuild health systems post-conflict. Four countries were studied-Uganda, Sierra Leone, Zimbabwe and Cambodia-which were at different distances from conflict and crisis, as well as having unique conflict stories. During the research process, the Ebola epidemic broke out in West Africa. Zimbabwe has continued to face a profound economic crisis. Within our research on health worker incentives, we captured insights from 128 life histories and in-depth interviews with a variety of staff that had remained in service...
November 1, 2017: Health Policy and Planning
https://www.readbyqxmd.com/read/29149218/carbonaceous-particulate-matter-on-the-lung-surface-from-adults-living-in-s%C3%A3-o-paulo-brazil
#12
Michele Galhardoni Padovan, Abigail Whitehouse, Nelson Gouveia, Mateus Habermann, Jonathan Grigg
OBJECTIVES: We therefore sought to identify the exposures associated with lung surface in long-term residents of São Paulo, Brazil. METHODS: Lung surface carbon were analyzed in 72 autopsy specimens by image analysis. Smoking history, measured PM10 nearest to the home, distance to main road, and distance-weighted traffic density were used as exposure variables. Data are summarized as median (IQR), and compared by Mann Whitney Test, with correlations done by Spearman's correlation...
2017: PloS One
https://www.readbyqxmd.com/read/29149183/vaccine-effectiveness-against-laboratory-confirmed-influenza-hospitalizations-among-young-children-during-the-2010-11-to-2013-14-influenza-seasons-in-ontario-canada
#13
Sarah A Buchan, Hannah Chung, Michael A Campitelli, Natasha S Crowcroft, Jonathan B Gubbay, Timothy Karnauchow, Kevin Katz, Allison J McGeer, J Dayre McNally, David Richardson, Susan E Richardson, Laura C Rosella, Andrew Simor, Marek Smieja, Dat Tran, George Zahariadis, Jeffrey C Kwong
Uncertainty remains regarding the magnitude of effectiveness of influenza vaccines for preventing serious outcomes, especially among young children. We estimated vaccine effectiveness (VE) against laboratory-confirmed influenza hospitalizations among children aged 6-59 months. We used the test-negative design in hospitalized children in Ontario, Canada during the 2010-11 to 2013-14 influenza seasons. We used logistic regression models adjusted for age, season, and time within season to calculate VE estimates by vaccination status (full vs...
2017: PloS One
https://www.readbyqxmd.com/read/29149179/postmenopausal-hormone-therapy-and-risk-of-stroke-a-pooled-analysis-of-data-from-population-based-cohort-studies
#14
Germán D Carrasquilla, Paolo Frumento, Anita Berglund, Christer Borgfeldt, Matteo Bottai, Chiara Chiavenna, Mats Eliasson, Gunnar Engström, Göran Hallmans, Jan-Håkan Jansson, Patrik K Magnusson, Peter M Nilsson, Nancy L Pedersen, Alicja Wolk, Karin Leander
BACKGROUND: Recent research indicates a favourable influence of postmenopausal hormone therapy (HT) if initiated early, but not late, on subclinical atherosclerosis. However, the clinical relevance of timing of HT initiation for hard end points such as stroke remains to be determined. Further, no previous research has considered the timing of initiation of HT in relation to haemorrhagic stroke risk. The importance of the route of administration, type, active ingredient, and duration of HT for stroke risk is also unclear...
November 2017: PLoS Medicine
https://www.readbyqxmd.com/read/29149156/survival-analysis-of-occipital-nerve-stimulator-leads-placed-under-fluoroscopic-guidance-with-and-without-ultrasonography
#15
James H Jones, Alison Brown, Daniel Moyse, Wenjing Qi, Lance Roy
BACKGROUND: Electrical stimulation of the greater occipital nerves is performed to treat pain secondary to chronic daily headaches and occipital neuralgia. The use of fluoroscopy alone to guide the surgical placement of electrodes near the greater occipital nerves disregards the impact of tissue planes on lead stability and stimulation efficacy. OBJECTIVE: We hypothesized that occipital neurostimulator (ONS) leads placed with ultrasonography combined with fluoroscopy would demonstrate increased survival rates and times when compared to ONS leads placed with fluoroscopy alone...
November 2017: Pain Physician
https://www.readbyqxmd.com/read/29149087/taxonomic-classification-for-living-organisms-using-convolutional-neural-networks
#16
Saed Khawaldeh, Usama Pervaiz, Mohammed Elsharnoby, Alaa Eddin Alchalabi, Nayel Al-Zubi
Taxonomic classification has a wide-range of applications such as finding out more about evolutionary history. Compared to the estimated number of organisms that nature harbors, humanity does not have a thorough comprehension of to which specific classes they belong. The classification of living organisms can be done in many machine learning techniques. However, in this study, this is performed using convolutional neural networks. Moreover, a DNA encoding technique is incorporated in the algorithm to increase performance and avoid misclassifications...
November 17, 2017: Genes
https://www.readbyqxmd.com/read/29149064/who-participates-in-the-great-shakeout-why-audience-segmentation-is-the-future-of-disaster-preparedness-campaigns
#17
Rachel M Adams, Beth Karlin, David P Eisenman, Johanna Blakley, Deborah Glik
Background: In 2008, the Southern California Earthquake Center in collaboration with the U.S. Geological Survey Earthquake Hazards Program launched the first annual Great ShakeOut, the largest earthquake preparedness drill in the history of the United States. Materials and Methods: We collected online survey data from 2052 campaign registrants to assess how people participated, whether audience segments shared behavioral patterns, and whether these segments were associated with five social cognitive factors targeted by the ShakeOut campaign...
November 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29148899/patients-with-cranial-dural-arteriovenous-fistulas-may-benefit-from-expanded-hypercoagulability-and-cancer-screening
#18
Sean P Polster, Hussein A Zeineddine, Joseph Baron, Seon-Kyu Lee, Issam A Awad
OBJECTIVE Cranial dural arteriovenous fistulas (DAVFs) have been associated with dural sinus occlusion, and previous reports have suggested the association of hypercoagulability with some cases. But the prevalence of a hypercoagulable state has not been systematically analyzed in conjunction with laboratory markers and clinical manifestations, including history of thromboembolism or systemic malignancy. The authors hypothesize that laboratory or clinical evidence of a hypercoagulable state, including cancer, is commonly identifiable in consecutively identified patients with DAVFs, with implications for clinical management...
November 17, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29148573/phenotypic-and-genetic-integration-of-personality-and-growth-under-competition-in-the-sheepshead-swordtail-xiphophorus-birchmanni
#19
K Boulton, C A Walling, A J Grimmer, G G Rosenthal, A J Wilson
Competition for resources including food, physical space, and potential mates is a fundamental ecological process shaping variation in individual phenotype and fitness. The evolution of competitive ability, in particular social dominance, depends on genetic (co)variation among traits causal (e.g., behaviour) or consequent (e.g. growth) to competitive outcomes. If dominance is heritable, it will generate both direct and indirect genetic effects (IGE) on resource dependent traits. The latter are expected to impose evolutionary constraint because winners necessarily gain resources at the expense of losers...
November 17, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29148533/identifying-characteristic-features-of-the-retinal-and-choroidal-vasculature-in-choroideremia-using-optical-coherence-tomography-angiography
#20
A Abbouda, A M Dubis, A R Webster, M Moosajee
PurposeUsing optical coherence tomography angiography (OCTA) to investigate the area with flow in the superficial retinal vessel network (SVRN) and choriocapillaris (CC) layer among male subjects with choroideremia (CHM), female carriers, and normal controls to identify vascular changes.Patients and methodsImages of SRVN and CC layer were acquired in 9 affected males, 5 female carriers, and 14 age- and gender-matched controls using the Angiovue software of the RTVue XR Avanti.ResultsThe mean age was 33 years for affected male CHM patients (median 30 years), 46 years for female carriers (median 53 years), and 39 years for controls (median 38...
November 17, 2017: Eye
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