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https://www.readbyqxmd.com/read/28650482/the-contribution-of-rare-variants-to-risk-of-schizophrenia-in-individuals-with-and-without-intellectual-disability
#1
Tarjinder Singh, James T R Walters, Mandy Johnstone, David Curtis, Jaana Suvisaari, Minna Torniainen, Elliott Rees, Conrad Iyegbe, Douglas Blackwood, Andrew M McIntosh, Georg Kirov, Daniel Geschwind, Robin M Murray, Marta Di Forti, Elvira Bramon, Michael Gandal, Christina M Hultman, Pamela Sklar, Aarno Palotie, Patrick F Sullivan, Michael C O'Donovan, Michael J Owen, Jeffrey C Barrett
By performing a meta-analysis of rare coding variants in whole-exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near-complete depletion of loss-of-function variants. In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28648245/great-british-medalists-response-to-the-commentaries
#2
Lew Hardy, Matthew Barlow, Lynne Evans, Tim Rees, Tim Woodman, Chelsea Warr
Hardy et al. (2017) reported the findings of a large-scale, multisource, qualitative study that examined the commonalities of, and discriminators between, a group of super-elite (SE) and a group of elite (E) athletes who were matched on gender, sport, discipline, and era. Fifteen research teams who are actively engaged in research in the domain then provided critical commentaries on the target paper. In our response to these commentaries, we briefly remind the reader of the primary findings of the original paper and then deal with the commentaries under the subheadings: Necessary and Sufficient Conditions for Elite Performance; Mediating and Moderating Variables; Methodological Issues; Omissions; and Alternative Approaches...
2017: Progress in Brain Research
https://www.readbyqxmd.com/read/28648228/great-british-medalists-psychosocial-biographies-of-super-elite-and-elite-athletes-from-olympic-sports
#3
Lew Hardy, Matthew Barlow, Lynne Evans, Tim Rees, Tim Woodman, Chelsea Warr
Participants were 32 former GB athletes from Olympic sports, 16 Super-Elite athletes who had won multiple medals at major championships, and 16 matched Elite athletes who had not. In-depth interviews with the athletes, their coaches, and one of their parents explored all psychosocial aspects of their development and careers. Content analyses revealed that there were no differences between Super-Elite and Elite athletes with regard to family values, conscientiousness, or commitment to training. However, the two groups were found to be different with regard to: (1) the experience of a foundational negative life event coupled with a foundational positive sport-related event; (2) the experience of a career turning point that enhanced motivation and focus for their sport; (3) need for success; (4) obsessiveness and/or perfectionism with regard to training and performance; (5) ruthlessness and/or selfishness in the pursuit of their sporting goals; (6) dual focus on both mastery and outcome; (7) the use of counterphobic attitudes and/or total preparation to maintain higher levels of performance under pressure; and (8) the relative importance of sport over other aspects of life...
2017: Progress in Brain Research
https://www.readbyqxmd.com/read/28648226/australasian-sleep-association-position-statement-regarding-the-use-of-psychological-behavioral-treatments-in-the-management-of-insomnia-in-adults
#4
Melissa Ree, Moira Junge, David Cunnington
Insomnia disorder is a high prevalence condition with a high disease burden, which, left untreated, can increase risk of poorer health outcomes. Due to Insomnia's tendency towards having a chronic course, long-term treatment approaches are required to reduce the impact of Insomnia over time. After reviewing the available literature, The Australasian Sleep Association (ASA) recommends Cognitive Behavior Therapy for Insomnia (CBT-I) as a first line treatment in the management of Insomnia. The ASA notes that in addition to CBT-I, there is emerging evidence for the use of Mindfulness Based Therapy for Insomnia when used in combination with behavioural techniques (MBT-I)...
August 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28647152/a-first-report-of-rare-earth-elements-in-northwestern-mediterranean-seaweeds
#5
Stefania Squadrone, Paola Brizio, Marco Battuello, Nicola Nurra, Rocco Mussat Sartor, Alessandro Benedetto, Daniela Pessani, Maria Cesarina Abete
The concentrations of rare earth elements (REE) were determined by ICP-MS in dominant seaweed species, collected from three locations of the northwestern Mediterranean Sea. This is the first study to define levels and patterns of REE in macro algae from these coastal areas. Rare elements are becoming emerging inorganic contaminants in marine ecosystems, due to their worldwide increasing applications in industry, technology, medicine and agriculture. Significant inter-site and interspecies differences were registered, with higher levels of REE in brown and green macro algae than in red seaweeds...
June 21, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28645723/doublet-tracer-tests-to-determine-the-contaminant-flushing-properties-of-a-municipal-solid-waste-landfill
#6
N D Woodman, T C Rees-White, R P Beaven, A M Stringfellow, J A Barker
This paper describes a programme of research investigating horizontal fluid flow and solute transport through saturated municipal solid waste (MSW) landfill. The purpose is to inform engineering strategies for future contaminant flushing. Solute transport between injection/abstraction well pairs (doublets) is investigated using three tracers over five separate tests at well separations between 5m and 20m. Two inorganic tracers (lithium and bromide) were used, plus the fluorescent dye tracer, rhodamine-WT. There was no evidence for persistent preferential horizons or pathways at the inter-well scale...
June 7, 2017: Journal of Contaminant Hydrology
https://www.readbyqxmd.com/read/28644786/antecedents-and-consequences-of-medical-students-moral-decision-making-during-professionalism-dilemmas
#7
Lynn Monrouxe, Malissa Shaw, Charlotte Rees
Medical students often experience professionalism dilemmas (which differ from ethical dilemmas) wherein students sometimes witness and/or participate in patient safety, dignity, and consent lapses. When faced with such dilemmas, students make moral decisions. If students' action (or inaction) runs counter to their perceived moral values-often due to organizational constraints or power hierarchies-they can suffer moral distress, burnout, or a desire to leave the profession. If moral transgressions are rationalized as being for the greater good, moral distress can decrease as dilemmas are experienced more frequently (habituation); if no learner benefit is seen, distress can increase with greater exposure to dilemmas (disturbance)...
June 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#8
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28639320/diet-physical-activity-and-behavioural-interventions-for-the-treatment-of-overweight-or-obese-adolescents-aged-12-to-17-years
#9
REVIEW
Lena Al-Khudairy, Emma Loveman, Jill L Colquitt, Emma Mead, Rebecca E Johnson, Hannah Fraser, Joan Olajide, Marie Murphy, Rochelle Marian Velho, Claire O'Malley, Liane B Azevedo, Louisa J Ells, Maria-Inti Metzendorf, Karen Rees
BACKGROUND: Adolescent overweight and obesity has increased globally, and can be associated with short- and long-term health consequences. Modifying known dietary and behavioural risk factors through behaviour changing interventions (BCI) may help to reduce childhood overweight and obesity. This is an update of a review published in 2009. OBJECTIVES: To assess the effects of diet, physical activity and behavioural interventions for the treatment of overweight or obese adolescents aged 12 to 17 years...
June 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28639319/diet-physical-activity-and-behavioural-interventions-for-the-treatment-of-overweight-or-obese-children-from-the-age-of-6-to-11-years
#10
REVIEW
Emma Mead, Tamara Brown, Karen Rees, Liane B Azevedo, Victoria Whittaker, Dan Jones, Joan Olajide, Giulia M Mainardi, Eva Corpeleijn, Claire O'Malley, Elizabeth Beardsmore, Lena Al-Khudairy, Louise Baur, Maria-Inti Metzendorf, Alessandro Demaio, Louisa J Ells
BACKGROUND: Child and adolescent overweight and obesity has increased globally, and can be associated with significant short- and long-term health consequences. This is an update of a Cochrane review published first in 2003, and updated previously in 2009. However, the update has now been split into six reviews addressing different childhood obesity treatments at different ages. OBJECTIVES: To assess the effects of diet, physical activity and behavioural interventions (behaviour-changing interventions) for the treatment of overweight or obese children aged 6 to 11 years...
June 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28637727/a-protocol-for-prospective-studies-of-25-hydroxyvitamin-d-leptin-and-body-mass-index-in-relation-to-cutaneous-melanoma-incidence-and-survival
#11
Jo Steinson Stenehjem, Tom K Grimsrud, Judith R Rees, Linda Vos, Ronnie Babigumira, Marit B Veierød, Trude Eid Robsahm
INTRODUCTION: The incidence and mortality rates of cutaneous melanoma (CM) are increasing among fair-skinned populations worldwide. Ultraviolet radiation (UVR) is the principal risk factor for CM, but is also the main source of 25-hydroxyvitamin D (25(OH)D), which has been associated with reduced risk and better prognosis of some cancer types. However, both low and high 25(OH)D levels have been associated with increased risk of CM. Obesity as measured by body mass index (BMI) is associated with risk of several cancers and has also been suggested as a risk factor for CM, and may also be related to insufficient 25(OH)D and/or high leptin levels...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28637444/a-comparison-of-nutritional-intake-and-daily-physical-activity-of-girls-aged-8-11%C3%A2-years-old-in-makkah-saudi-arabia-according-to-weight-status
#12
Rabab Al-Kutbe, Anne Payne, Anne de Looy, Gail A Rees
BACKGROUND: Obesity rates in Saudi Arabia are amongst the highest in the world. It is known that teenage girls are less active than teenage boys, but less is known about the diet and activity patterns in younger girls. Therefore this study sought to investigate dietary intake and daily physical activity in girls aged 8-11 years old in Saudi Arabia. METHODS: This was a cross- sectional observational study conducted in seven schools across the city of Makkah. A total of 266 girls had anthropometric measurements taken including height, weight, waist circumference and body fat estimations...
June 21, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28636053/evidence-of-bad-recycling-practices-bfrs-in-children-s-toys-and-food-contact-articles
#13
A Guzzonato, F Puype, S J Harrad
Brominated flame retardants (BFRs) have been used intentionally in a wide range of plastics, but are now found in an even wider range of such materials (including children's toys and food contact articles) as a result of recycling practices that mix BFR-containing waste plastics with "virgin" materials. In this study Br was quantified in toy and food contact samples on the assumption that its concentration can be used as a metric for BFR contamination. Subsequently, compound specific determination of BFRs was performed to evaluate the validity of the aforementioned assumption, crucial to render rapid, inexpensive, in situ Br determination in non-laboratory environments (such as waste handling facilities) a viable option for sorting wastes according to their BFR content...
June 21, 2017: Environmental Science. Processes & Impacts
https://www.readbyqxmd.com/read/28632898/hbsag-loss-after-peginterferon-and-nucleotide-combination-treatment-in-chronic-hepatitis-b-patients-5-years-of-follow-up
#14
Femke Stelma, Meike H van der Ree, Louis Jansen, Martine W Peters, Harry L A Janssen, Hans L Zaaijer, R Bart Takkenberg, Hendrik W Reesink
BACKGROUND AND AIMS: Combining peginterferon alfa-2a (pegIFN) with a nucleotide analogue can result in higher rates of HBsAg loss than either therapy given alone. Here we investigated the durability of the response to combination therapy in chronic hepatitis B (CHB) patients after 5 years of follow-up. METHODS: In the initial study, 92 CHB patients (44 HBeAg positive, 48 HBeAg negative) with HBV DNA > 100,000 c/mL (~20,000 IU/mL) and active hepatitis were treated for 48 weeks with pegIFN 180 μg/week and 10 mg adefovir dipivoxil daily...
June 20, 2017: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/28628904/geochemical-characteristics-of-rare-earth-elements-in-different-types-of-soil-a-chemometric-approach
#15
Aysha Masood Khan, Shima Behkami, Ismail Yusoff, Sharifuddin Bin Md Zain, Nor Kartini Abu Bakar, Ahmad Farid Abu Bakar, Yatimah Alias
Rare earth elements (REEs) are becoming significant due to their huge applications in many industries, large-scale mining and refining activities. Increasing usage of such metals pose negative environmental impacts. In this research ICP-MS has been used to analyze soil samples collected from former ex-mining areas in the depths of 0-20 cm, 21-40 cm, and 41-60 cm of residential, mining, natural, and industrial areas of Perak. Principal component analysis (PCA) revealed that soil samples taken from different mining, industrial, residential, and natural areas are separated into four clusters...
June 9, 2017: Chemosphere
https://www.readbyqxmd.com/read/28627721/making-sense-further-studies-of-living-with-chronic-illness
#16
EDITORIAL
Gareth H Williams, Ian Rees Jones
No abstract text is available yet for this article.
June 2017: Sociology of Health & Illness
https://www.readbyqxmd.com/read/28624413/srsf3-regulated-mir-132-212-controls-cell-migration-and-invasion-by-targeting-yap1
#17
Hye Ree Kim, Su Jin Hwang, Chang Hoon Shin, Kyung Hee Choi, Takbum Ohn, Hyeon Ho Kim
Although SRSF3 (Serine/arginine-rich splicing factor 3) plays a significant role in various biological processes, many of its functions still remain unclear. More particularly, little is known about SRSF3's involvement in the regulation of miRNA. In this report, we found that invasive and migratory abilities were inhibited in SRSF3-silenced U2OS and HeLa cells. We also found that a knockdown of SRSF3 results in a decreased expression level of REST (RE1-silencing transcription factor). The silencing of REST increased the expression of primary miR-132/212 as well as their mature forms...
June 14, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28622989/rare-earth-elements-mobility-processes-in-an-amd-affected-estuary-huelva-estuary-sw-spain
#18
K L Lecomte, A M Sarmiento, J Borrego, J M Nieto
Huelva Estuary is a transition zone where REE-rich acidic waters interact with saline-alkaline seawater. This mixing process influences the geochemical and mineralogical characteristics of particulate and dissolved fractions. The Tinto River has >11,000μgL(-1) dissolved REE (pH=1.66), whereas seawater only reaches 8.75·10(-2)μgL(-1) dissolved REE (pH=7.87). REE-normalized patterns in "pH<6 solutions" are parallel and show similarities, diminishing their concentration as pH increases. Sequential extraction performed on the generated precipitates of mixed solutions indicates that most REE are associated to the residual phase...
June 13, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28620322/the-relationship-of-complex-post-traumatic-stress-disorder-and-post-traumatic-stress-disorder-in-a-culturally-distinct-conflict-affected-population-a-study-among-west-papuan-refugees-displaced-to-papua-new-guinea
#19
Derrick Silove, Alvin Kuowei Tay, Moses Kareth, Susan Rees
BACKGROUND: Controversy continues about the validity of the construct of complex post-traumatic stress disorder (C-PTSD). In particular, questions remain whether C-PTSD can be differentiated from post-traumatic stress disorder (PTSD) and, secondarily, other common mental disorders. The examination of these issues needs to be expanded to populations of diverse cultural backgrounds exposed to prolonged persecution. We undertake such an inquiry among a community sample of West Papuan refugees exposed to extensive persecution and trauma...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28616481/evidence-of-exposure-to-rickettsia-felis-in-australian-patients
#20
Yen Thon Teoh, Sze Fui Hii, Stephen Graves, Robert Rees, John Stenos, Rebecca J Traub
Rickettsia felis is an emerging zoonosis, causing flea-borne spotted fever (FBSF). Serological diagnosis is typically confounded by cross-reactivity with typhus group rickettsiae and prior to the development of specific serological methods, cases of FBSF in Australia were misdiagnosed. Patient sera tested between August 2010 and December 2013 and known to be seropositive to R. typhi by immunofluorescence antibody testing (IFAT) were subsequently retested against R. felis using an R. felis-specific IFAT. Sera of 49 patients were of a sufficient quality to be included in re-analysis...
December 2016: One Health
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