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https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#1
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28803231/in-potential-stroke-patients-on-warfarin-the-international-normalized-ratio-predicts-ischemia
#2
Cathy Cao, Ashley Martinelli, Brian Spoelhof, Rafael H Llinas, Elisabeth B Marsh
BACKGROUND: Stroke can occur in patients on warfarin despite anticoagulation. Patients with a low international normalized ratio (INR) should theoretically be at greater risk for ischemia than those who are therapeutic. Therefore, INR may be able to indicate whether new neurological deficits are more likely strokes or stroke mimics in patients on warfarin. This study evaluates the association and predictive value of INR in determining the likelihood of ischemia. METHODS: Patients were identified using the acute stroke registry at a Primary Stroke Center from January 2013 through December 2014...
August 11, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/28799216/device-measured-physical-activity-as-a-predictor-of-disability-in-mobility-limited-older-adults
#3
Robert T Mankowski, Stephen D Anton, Robert Axtell, Shyh-Huei Chen, Roger A Fielding, Nancy W Glynn, Fang-Chi Hsu, Abby C King, Andrew S Layne, Christiaan Leeuwenburgh, Todd M Manini, Anthony P Marsh, Marco Pahor, Catrine Tudor-Locke, David E Conroy, Thomas W Buford
OBJECTIVES: To examine associations between objectively measured physical activity (PA) and incidence of major mobility disability (MMD) and persistent MMD (PMMD) in older adults in the Lifestyle Interventions and Independence for Elders (LIFE) Study. DESIGN: Prospective cohort of individuals aged 65 and older undergoing structured PA intervention or health education. SETTING: The LIFE Study was a multicenter (eight sites) randomized controlled trial designed to compare the efficacy of a long-term structured PA intervention with that of a health education (HE) program in reducing the incidence of MMD in mobility-limited older adults...
August 11, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28797542/modulation-of-spartina-densiflora-plant-growth-and-metal-accumulation-upon-selective-inoculation-treatments-a-comparison-of-gram-negative-and-gram-positive-rhizobacteria
#4
Karina I Paredes-Páliz, Enrique Mateos-Naranjo, Bouchra Doukkali, Miguel A Caviedes, Susana Redondo-Gómez, Ignacio D Rodríguez-Llorente, Eloísa Pajuelo
Metal contamination of estuaries is a severe environmental problem, for which phytoremediation is gaining momentum. In particular, the associations between halophytes-autochthonous rhizobacteria have proven useful for metal phytostabilization in salt marshes. In this work, three bacterial strains (gram-negative and gram-positive) were used for Spartina densiflora inoculation. All three bacteria, particularly Pantoea strains, promoted plant growth and mitigated metal stress on polluted sediments, as revealed from functionality of the photosynthetic apparatus (PSII) and maintenance of nutrient balance...
August 8, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#5
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28797143/evolution-of-wetland-in-honghe-national-nature-reserve-from-the-view-of-hydrogeology
#6
Xiancang Wu, Weihong Dong, Xueyu Lin, Yukai Liang, Ying Meng, Wei Xie
There is wide concern about the evolution of wetlands, an important component of the global ecosystem. The Honghe National Nature Reserve (HNNR) is an internationally important marsh wetland in China that is at risk of degradation. To gain an improved understanding of how the HNNR wetland developed from 1975 to 2014, typical years, including 1975, 1988, 1996, 2002 and 2014, were selected based on precipitation date. And land cover types of the different years were classified using TM images. The results showed that the wetland evolution mainly reflects transformations between the meadow and wetland land cover types...
August 6, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28796807/modeling-vegetation-community-responses-to-sea-level-rise-on-barrier-island-systems-a-case-study-on-the-cape-canaveral-barrier-island-complex-florida-usa
#7
Tammy E Foster, Eric D Stolen, Carlton R Hall, Ronald Schaub, Brean W Duncan, Danny K Hunt, John H Drese
Society needs information about how vegetation communities in coastal regions will be impacted by hydrologic changes associated with climate change, particularly sea level rise. Due to anthropogenic influences which have significantly decreased natural coastal vegetation communities, it is important for us to understand how remaining natural communities will respond to sea level rise. The Cape Canaveral Barrier Island complex (CCBIC) on the east central coast of Florida is within one of the most biologically diverse estuarine systems in North America and has the largest number of threatened and endangered species on federal property in the contiguous United States...
2017: PloS One
https://www.readbyqxmd.com/read/28794213/brachial-and-cerebrovascular-functions-are-enhanced-in-postmenopausal-women-after-ingestion-of-chocolate-with-a-high-concentration-of-cocoa
#8
Channa E Marsh, Howard H Carter, Kym J Guelfi, Kurt J Smith, Kerryn E Pike, Louise H Naylor, Daniel J Green
Background: Cocoa contains polyphenols that are thought to be beneficial for vascular health.Objective: We assessed the impact of chocolate containing distinct concentrations of cocoa on cerebrovascular function and cognition.Methods: Using a counterbalanced within-subject design, we compared the acute impact of consumption of energy-matched chocolate containing 80%, 35%, and 0% single-origin cacao on vascular endothelial function, cognition, and cerebrovascular function in 12 healthy postmenopausal women (mean ± SD age: 57...
August 9, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28792032/new-tools-for-atmospheric-chemistry-general-discussion
#9
Peter Alpert, Alexander Archibald, Stephen Arnold, Kirsti Ashworth, Steven Brown, Steven Campbell, Lucy J Carpenter, Hugh Coe, Jing Dou, Jacinta Edebeli, Barbara Finlayson-Pitts, Andrew Grantham, Jacqueline Hamilton, Meredith Hastings, Dwayne Heard, Gabriel Isaacman-VanWertz, Roderic Jones, Markus Kalberer, Astrid Kiendler-Scharr, Daniel Knopf, Jesse Kroll, Jos Lelieveld, Alastair Lewis, Eloise Marais, Aleksandra Marsh, Sarah Moller, Andreas Petzold, William Porter, A Ravishankara, Jonathan Reid, Andrew Rickard, Grazia Rovelli, Yinon Rudich, Craig Taatjes, Adam Vaughan, Andreas Wahner, Timothy J Wallington, Jonathan Williams, Paul Young, Alla Zelenyuk
No abstract text is available yet for this article.
August 9, 2017: Faraday Discussions
https://www.readbyqxmd.com/read/28790190/landowner-behavior-can-determine-the-success-of-conservation-strategies-for-ecosystem-migration-under-sea-level-rise
#10
Christopher R Field, Ashley A Dayer, Chris S Elphick
The human aspects of conservation are often overlooked but will be critical for identifying strategies for biological conservation in the face of climate change. We surveyed the behavioral intentions of coastal landowners with respect to various conservation strategies aimed at facilitating ecosystem migration for tidal marshes. We found that several popular strategies, including conservation easements and increasing awareness of ecosystem services, may not interest enough landowners to allow marsh migration at the spatial scales needed to mitigate losses from sea-level rise...
August 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28789702/development-of-novel-genic-microsatellite-markers-from-transcriptome-sequencing-in-sugar-maple-acer-saccharum-marsh
#11
Monica Harmon, Thomas Lane, Margaret Staton, Mark V Coggeshall, Teodora Best, Chien-Chih Chen, Haiying Liang, Nicole Zembower, Daniela I Drautz-Moses, Yap Zhei Hwee, Stephan C Schuster, Scott E Schlarbaum, John E Carlson, Oliver Gailing
BACKGROUND: Sugar maple (Acer saccharum Marsh.) is a hardwood tree species native to northeastern North America and economically valued for its wood and sap. Yet, few molecular genetic resources have been developed for this species to date. Microsatellite markers have been a useful tool in population genetics, e.g., to monitor genetic variation and to analyze gene flow patterns. The objective of this study is to develop a reference transcriptome and microsatellite markers in sugar maple...
August 8, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28777983/vitamin-d-supplementation-in-bipolar-depression-a-double-blind-placebo-controlled-trial
#12
Wendy K Marsh, Jessica L Penny, Anthony J Rothschild
OBJECTIVE: Bipolar depression is difficult to treat. Vitamin D supplementation is well tolerated and may improve mood via its neurotransmitter synthesis regulation, nerve growth factor enhancement and antioxidant properties. Vitamin D adjunct reduces unipolar depression, but has not been tried in bipolar depression. METHODS: 18-70yos with DSM IV bipolar depression and Vitamin D deficiency (<30 ng/ml) were randomized in a controlled double blind trial of 5000IU Vitamin D3 po qday supplementation versus placebo for twelve weeks...
July 22, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28776968/nomenclature-for-factors-of-the-hla-system-update-april-2017
#13
S G E Marsh
No abstract text is available yet for this article.
September 2017: HLA
https://www.readbyqxmd.com/read/28776967/nomenclature-for-factors-of-the-hla-system-update-may-2017
#14
S G E Marsh
No abstract text is available yet for this article.
September 2017: HLA
https://www.readbyqxmd.com/read/28776966/nomenclature-for-factors-of-the-hla-system-update-june-2017
#15
S G E Marsh
No abstract text is available yet for this article.
September 2017: HLA
https://www.readbyqxmd.com/read/28771066/estimates-of-energy-intake-and-expenditure-in-elite-female-touch-players-during-an-international-tournament
#16
Nicola Marsh, Nick Dobbin, Craig Twist, Chris Curtis
This study assessed energy intake and expenditure of international female Touch players during an international tournament. Energy intake (food diary) and expenditure (accelerometer, global positioning system) were recorded for 16 female Touch players during a four-day tournament, competing in 8.0 ± 1.0 matches; two on days one, two and four, and three on day three. Total daily energy expenditure (43.6 ± 3.1 Kcal·kg(-1) body mass (BM)) was not different (P > 0.05) from energy intake (39.9 ± 9.4 Kcal·kg(-1) BM)...
August 3, 2017: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/28768097/the-fate-of-contaminants-and-stable-pb-isotopes-in-a-changing-estuarine-environment-20-years-on
#17
Andrew B Cundy, Ian W Croudace
Estuarine sediments provide an important sink for contaminants discharged into fluvial, estuarine and nearshore settings, and numerous authors have utilised this trapping function to assess historical contaminant loadings and contaminant breakdown/transformation processes. This paper examines the retention of elemental and isotopic sedimentary signatures in an industrialised estuarine system subject to a strongly upward sea-level trend, over a 20 year period. Two contrasting salt marsh sites (at Hythe and Hamble, part of the wider Southampton Water estuarine system, UK) were examined, which had been previously cored and analysed in the early 1990s...
August 2, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28767649/oiling-accelerates-loss-of-salt-marshes-southeastern-louisiana
#18
Michael Beland, Trent W Biggs, Dar A Roberts, Seth H Peterson, Raymond F Kokaly, Sarai Piazza
The 2010 BP Deepwater Horizon (DWH) oil spill damaged thousands of km2 of intertidal marsh along shorelines that had been experiencing elevated rates of erosion for decades. Yet, the contribution of marsh oiling to landscape-scale degradation and subsequent land loss has been difficult to quantify. Here, we applied advanced remote sensing techniques to map changes in marsh land cover and open water before and after oiling. We segmented the marsh shorelines into non-oiled and oiled reaches and calculated the land loss rates for each 10% increase in oil cover (e...
2017: PloS One
https://www.readbyqxmd.com/read/28765130/the-child-s-perspective-on-discomfort-during-medical-research-procedures-a-descriptive-study
#19
Mira S Staphorst, Marc A Benninga, Margriet Bisschoff, Irma Bon, Jan J V Busschbach, Kay Diederen, Johannes B van Goudoever, Eric G Haarman, Joke A M Hunfeld, Vincent V W Jaddoe, Karin J M de Jong, Johan C de Jongste, Angelika Kindermann, Marsh Königs, Jaap Oosterlaan, Jan Passchier, Mariëlle W Pijnenburg, Liesbeth Reneman, Lissy de Ridder, Hyke G Tamminga, Henning W Tiemeier, Reinier Timman, Suzanne van de Vathorst
OBJECTIVE: The evaluation of discomfort in paediatric research is scarcely evidence-based. In this study, we make a start in describing children's self-reported discomfort during common medical research procedures and compare this with discomfort during dental check-ups which can be considered as a reference level of a 'minimal discomfort' medical procedure. We exploratory study whether there are associations between age, anxiety-proneness, gender, medical condition, previous experiences and discomfort...
August 1, 2017: BMJ Open
https://www.readbyqxmd.com/read/28764912/c-reactive-protein-and-cardiovascular-risk-in-bipolar-disorder-patients-a-systematic-review
#20
REVIEW
Victoria S Marshe, Shamira Pira, Outi Mantere, Bert Bosche, Karl J Looper, Nathan Herrmann, Daniel J Müller, Soham Rej
OBJECTIVES: New research is revealing a strong association between inflammatory markers with bipolar disorder (BD), potentially due to the high prevalence of cardiovascular disease and cardiovascular risk factors in BD. We aimed to synthesize the literature examining the association between the clinically most relevant inflammatory marker, C-reactive protein (CRP) and cardiovascular disease and cardiovascular risk factors in patients with BD. METHODS: MEDLINE, Embase and PsychInfo were systematically searched for all relevant English language articles published prior to April 2017...
July 29, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
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