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Carole Charlier, Wanbo Li, Chad Harland, Mathew Littlejohn, Wouter Coppieters, Frances Creagh, Steve Davis, Tom Druet, Pierre Faux, François Guillaume, Latifa Karim, Mike Keehan, Naveen Kumar Kadri, Nico Tamma, Richard Spelman, Michel Georges
We herein report the result of a large-scale, next generation sequencing (NGS)-based screen for embryonic lethal (EL) mutations in Belgian beef and New Zealand dairy cattle. We estimated by simulation that cattle might carry, on average, ∼0.5 recessive EL mutations. We mined exome sequence data from >600 animals, and identified 1377 stop-gain, 3139 frame-shift, 1341 splice-site, 22,939 disruptive missense, 62,399 benign missense, and 92,163 synonymous variants. We show that cattle have a comparable load of loss-of-function (LoF) variants (defined as stop-gain, frame-shift, or splice-site variants) as humans despite having a more variable exome...
October 2016: Genome Research
A J Noble, A Robinson, A G Marson
Feelings of stigma are one of the main burdens reported by people with epilepsy (PWE). Adults with temporal or frontal lobe epilepsy and children with idiopathic generalised epilepsy are at risk of Theory of Mind (ToM) deficits. ToM refers to social cognitive skills, including the ability to understand the thoughts, intentions, beliefs, and emotions of others. It has been proffered that ToM deficits may contribute to the feelings of stigma experienced by PWE. In this study we tested this for the first time...
2016: Behavioural Neurology
Simon R Cox, Thomas H Bak, Michael Allerhand, Paul Redmond, John M Starr, Ian J Deary, Sarah E MacPherson
The influence of bilingualism on cognitive functioning is currently a topic of intense scientific debate. The strongest evidence for a cognitive benefit of bilingualism has been demonstrated in executive functions. However, the causal direction of the relationship remains unclear: does learning other languages improve executive functions or are people with better executive abilities more likely to become bilingual? To address this, we examined 90 male participants of the Lothian Birth Cohort 1936; 26 were bilingual, 64 monolingual...
August 29, 2016: Neuropsychologia
Lyne Desrosiers, Micheline Saint-Jean, Lise Laporte
Objectives More than half of suicidal adolescents, a large proportion of which manifest borderline personality disorder (BPD), drop out from treatment. The consequences of their premature termination are cause for concern given the recurrence of their suicidal attempts and that they present elevated risk for major mental disorders during adulthood. The study sought to gain a broader appreciation of processes involved in the treatment dropout among adolescents with BPD.Method A constructivist grounded theory was chosen using a multiple-case research design...
2016: Santé Mentale Au Québec
E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, J Boyle, M Leffler, M Raynaud, C Moraine, H van Bokhoven, T Kleefstra, K Kahrizi, H Najmabadi, H-H Ropers, M R Delgado, D Sirsi, S Golla, A Sommer, M P Pietryga, W K Chung, J Wynn, L Rohena, E Bernardo, D Hamlin, B M Faux, D K Grange, L Manwaring, J Tolmie, S Joss, J M Cobben, F A M Duijkers, J M Goehringer, T D Challman, F Hennig, U Fischer, A Grimme, V Suckow, L Musante, J Nicholl, M Shaw, S P Lodh, Z Niu, J A Rosenfeld, P Stankiewicz, T J Jentsch, J Gecz, M Field, V M Kalscheuer
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported)...
August 23, 2016: Molecular Psychiatry
Samantha C Burnham, Christopher C Rowe, David Baker, Ashley I Bush, James D Doecke, Noel G Faux, Simon M Laws, Ralph N Martins, Paul Maruff, S Lance Macaulay, Stephanie Rainey-Smith, Greg Savage, David Ames, Colin L Masters, William Wilson, Victor L Villemagne
OBJECTIVE: We assessed a blood-based signature, which previously demonstrated high accuracy at stratifying individuals with high or low neocortical β-amyloid burden (NAB), to determine whether it could also identify individuals at risk of progression to Alzheimer disease (AD) within 54 months. METHODS: We generated the blood-based signature for 585 healthy controls (HCs) and 74 participants with mild cognitive impairment (MCI) from the Australian Imaging, Biomarkers and Lifestyle Study who underwent clinical reclassification (blinded to biomarker findings) at 54-month follow-up...
September 13, 2016: Neurology
Naveen Kumar Kadri, Chad Harland, Pierre Faux, Nadine Cambisano, Latifa Karim, Wouter Coppieters, Sébastien Fritz, Erik Mullaart, Denis Baurain, Didier Boichard, Richard Spelman, Carole Charlier, Michel Georges, Tom Druet
We herein study genetic recombination in three cattle populations from France, New Zealand, and the Netherlands. We identify 2,395,177 crossover (CO) events in 94,516 male gametes, and 579,996 CO events in 25,332 female gametes. The average number of COs was found to be larger in males (23.3) than in females (21.4). The heritability of global recombination rate (GRR) was estimated at 0.13 in males and 0.08 in females, with a genetic correlation of 0.66 indicating that shared variants are influencing GRR in both sexes...
October 2016: Genome Research
Meng Chen, Robert A Bell, Laramie D Taylor
Narratives are often used in messages about health threats. We posited that a 1st-person point of view (POV) narrative would have a greater effect than a 3rd-person POV on the mediators identification and self-referencing-an effect moderated by protagonist-reader similarity. Higher levels of identification and self-referencing were expected to elevate susceptibility and severity perceptions, leading to persuasion. Participants ages ≤30 years were recruited from a crowdsource website and randomly assigned to read one version of a faux magazine article about caffeine overdose...
August 2016: Journal of Health Communication
Gaurav Aggarwal, Samiran Das Adhikary
BACKGROUND: Rupture of the urinary collecting system with or without any perinephric extravasation is an extremely rare occurrence and usually known to occur following an obstructive pathology. Spontaneous or non-traumatic rupture, in the absence of any distal obstruction, though reported in literature, is not yet a proven entity and needs to be distinguished from physiological forniceal rupture, to validate its occurrence. Our case illustrates that spontaneous ureteric rupture does exist and requires a high level of vigil for prompt diagnosis and early simple management...
2016: BMC Urology
Mehmet Onur Yücel, Halise Devrimci Özgüven, Ayşegül Sakarya, Bora Baskak, Erguvan Tuğba Özel Kızıl, Direnç Sakarya, Seda Haran
OBJECTIVE: We aimed to compare Theory of Mind (ToM) functions and investigate the relationship between ToM functions and verbal working memory (VWM) in first degree relatives of bipolar disorder and schizophrenia patients. METHOD: The sample consisted of first degree relatives of patients with bipolar disorder (n=22), schizophrenia (n=28), and age, gender, education and total IQ matched healthy volunteers (n=27) without a family history of schizophrenia or bipolar disorder...
2016: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
Karen Sw Chia, Peter Kk Wong, Steven Faux, Craig S McLachlan, Eugene Kotlyar
Pulmonary hypertension (PH) is a clinical condition characterized by raised pulmonary artery pressure which results in increased right ventricular afterload and dyspnea. This is accompanied by reduced exercise capacity, quality of life and eventually, death. An increasing range of targeted medications has transformed the treatment of pulmonary arterial hypertension, a specific type of PH. Supervised exercise training is recommended as part of a multi-faceted management plan for PH. However, many questions remain regarding how exercise training improves exercise capacity and quality of life...
June 24, 2016: Internal Medicine Journal
Mara Battagin, Gregor Gorjanc, Anne-Michelle Faux, Susan E Johnston, John M Hickey
BACKGROUND: In this work, we performed simulations to explore the potential of manipulating recombination rates to increase response to selection in livestock breeding programs. METHODS: We carried out ten replicates of several scenarios that followed a common overall structure but differed in the average rate of recombination along the genome (expressed as the length of a chromosome in Morgan), the genetic architecture of the trait under selection, and the selection intensity under truncation selection (expressed as the proportion of males selected)...
2016: Genetics, Selection, Evolution: GSE
Luís Faísca, Sofia Afonseca, Martin Brüne, Gabriela Gonçalves, Alexandra Gomes, Ana Teresa Martins
BACKGROUND: Developmental concepts of 'Theory of Mind' (ToM) suggest that this cognitive domain is an innate human capacity requiring input from the social environment to mature. Research suggests substantial individual differences in ToM, depending on childhood experiences, genetics, and the presence or absence of a neuropsychiatric disorder. None of the existing ToM tests for adult populations have been made available in Portuguese. Accordingly, the main objective of this study was to evaluate the psychometric properties of the Portuguese versions of the Faux Pas (FP) Recognition Test and the ToM Picture Stories Task...
2016: Psychopathology
James Cleverly, Derek Eamus, Natalia Restrepo Coupe, Chao Chen, Wouter Maes, Longhui Li, Ralph Faux, Nadia S Santini, Rizwana Rumman, Qiang Yu, Alfredo Huete
The Earth's Critical Zone, where physical, chemical and biological systems interact, extends from the top of the canopy to the underlying bedrock. In this study, we investigated soil moisture controls on phenology and productivity of an Acacia woodland in semi-arid central Australia. Situated on an extensive sand plain with negligible runoff and drainage, the carry-over of soil moisture content (θ) in the rhizosphere enabled the delay of phenology and productivity across seasons, until conditions were favourable for transpiration of that water to prevent overheating in the canopy...
October 15, 2016: Science of the Total Environment
Manisha K Patel, Brent R Mittelstaedt, Frank E Valentin, Linda P Thomas, Christian L Carlson, Brian M Faux, David T Hsieh
Gorham-Stout disease (GSD), also known as vanishing bone disease, is a rare disorder, which most commonly presents in children and young adults and is characterized by an excessive proliferation of lymphangiomatous tissue within the bones. This lymphangiomatous proliferation often affects the cranium and, due to the proximate location to the dura surrounding cerebrospinal fluid (CSF) spaces, can result in CSF leaks manifesting as intracranial hypotension with clinical symptoms to include orthostatic headache, nausea, and vertigo...
January 2016: Case Reports in Neurology
Dominique A Cadilhac, Joosup Kim, Natasha A Lannin, Christopher R Levi, Helen M Dewey, Kelvin Hill, Steven Faux, Nadine E Andrew, Monique F Kilkenny, Rohan Grimley, Amanda G Thrift, Brenda Grabsch, Sandy Middleton, Craig S Anderson, Geoffrey A Donnan
OBJECTIVES: To investigate differences in management and outcomes for patients admitted to the hospital with TIA according to care on a stroke unit (SU) or alternate ward setting up to 180 days post event. METHODS: TIA admissions from 40 hospitals participating in the Australian Stroke Clinical Registry during 2010-2013 were assessed. Propensity score matching was used to assess outcomes by treatment group including Cox proportional hazards regression to compare survival differences and other appropriate multivariable regression models for outcomes including health-related quality of life and readmissions...
May 31, 2016: Neurology
Anna Rita Giovagnoli, Annalisa Parente, Giuseppe Didato, Francesco Deleo, Flavio Villani
OBJECTIVE: Because temporal lobe epilepsy (TLE) can impair theory of mind (ToM), we examined the effects of anterior temporal lobectomy (ATL) by comparing the preoperative to postoperative ToM course with that of other cognitive functions characteristically impaired in TLE. METHODS: Eighty-five patients with left (n = 39) or right (n = 46) drug-resistant TLE and an age at epilepsy onset of >12 (n = 54) or ≤12 years (n = 31) were evaluated before and 1 year after surgery; 40 healthy controls were assessed at baseline...
June 2016: Epilepsia
Ted Ruffman, Julie Zhang, Mele Taumoepeau, Sheila Skeaff
BACKGROUND/STUDY CONTEXT: Aging is characterized by a well-documented worsening of general cognition, and also a decline in social understanding such as the ability to recognize emotions or detect socially inappropriate behavior (faux pas). Several studies have demonstrated that lifestyle factors (diet, exercise, social integration, smoking) tend to offset general cognitive decline, and we examined whether they also help to offset age-related declines in social cognition. METHODS: There were 56 participants aged 60 years or over...
2016: Experimental Aging Research
Jane Wu, Steven G Faux, Ian Harris, Christopher J Poulos, Tara Alexander
OBJECTIVES: 1) Describe probabilistic linkage (PL) for road trauma and rehabilitation records in New South Wales (NSW) Australia. 2) Determine the accuracy of linkage for these records. METHODS: Data were extracted from the NSW Trauma Registry for all road trauma admissions for the years 2009-2012 and from Australasian Rehabilitation Outcomes Centre for January 2009 to June 2013. PL was performed using: age; sex; residential postcode; and date of acute discharge = date of admission to rehabilitation...
June 2016: Australian and New Zealand Journal of Public Health
Andrée Rousseau, Pierre Giovenazzo
Supplemental feeding of honey bee (Apis melliferaL., Hymenoptera: Apidae) colonies in spring is essential for colony buildup in northern apicultural regions. The impact of pollen and syrup feeding on drone production and sperm quality is not well-documented, but may improve fecundation of early-bred queens. We measured the impact of feeding sucrose syrup, and protein supplements to colonies in early spring in eastern Canada. Drones were reared under different nutritional regimes, and mature individuals were then assessed in regard to size, weight, and semen quality (semen volume, sperm count, and viability)...
March 27, 2016: Journal of Economic Entomology
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