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https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#1
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28728156/predicting-the-risk-to-develop-preeclampsia-in-the-first-trimester-combining-promoter-variant-98a-c-of-lgals13-placental-protein-13-black-ethnicity-previous-preeclampsia-obesity-and-maternal-age
#2
Liora Madar-Shapiro, Ido Karady, Alla Trahtenherts, Argryo Syngelaki, Ranjit Akolekar, Liona Poon, Ruth Cohen, Adi Sharabi-Nov, Berthold Huppertz, Marei Sammar, Kata Juhasz, Nandor Gabor Than, Zoltan Papp, Roberto Romero, Kypros H Nicolaides, Hamutal Meiri
BACKGROUND: LGALS13 (placental protein 13 [PP13]) promoter DNA polymorphisms was evaluated in predicting preeclampsia (PE), given PP13's effects on hypotension, angiogenesis, and immune tolerance. METHODS: First-trimester plasma samples (49 term and 18 intermediate) of PE cases matched with 196 controls were collected from King's College Hospital, London, repository. Cell-free DNA was extracted and the LGALS13 exons were sequenced after PCR amplification. Expression of LGALS13 promoter reporter constructs was determined in BeWo trophoblast-like cells with luciferase assays...
July 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28727176/polygenic-risk-score-analysis-of-pathologically-confirmed-alzheimer-s-disease
#3
Valentina Escott-Price, Amanda J Myers, Matt Huentelman, John Hardy
Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer's disease have given Area Under the Curve estimates of <80%. However, these have been based on the genetic analysis of clinical case control series. Here we apply the same analytic approaches to a pathological case control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. This article is protected by copyright...
July 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28727016/genomewide-association-mapping-and-pathway-analysis-of-meat-tenderness-in-polled-nellore-cattle
#4
L M Castro, G J M Rosa, F B Lopes, L C A Regitano, A J M Rosa, C U Magnabosco
Brazil is one of the world's largest beef exporters, although the product has a low price due to quality issues. The meat exported by Brazil is considered medium and low quality by international buyers, mainly due to lack of tenderness. The predominant Zebu breeds (80% Nellore) are known for producing tougher beef than taurine breeds. Nonetheless, some studies have shown that there is substantial genetic variability for tenderness within the Nellore breed, although it is a difficult trait to improve by conventional selection methods...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28727014/further-testing-of-melatonin-receptor-1a-for-out-of-season-reproduction-in-the-cornell-flock-and-allelic-frequencies-compared-with-romney-sheep
#5
C J Posbergh, R J Murphy, M L Thonney
Sheep are seasonally polyestrous breeders, meaning they breed when day length shortens in the autumn. Ewes respond to changing day length through chemical pathways involving melatonin receptors. Some breeds, such as Dorset, are known to be less seasonal with many ewes able to breed and lamb year-round. The Melatonin Receptor 1a () gene was identified as a candidate gene controlling out-of-season lambing. The first studies in the Cornell STAR accelerated lambing flock found that a allele was associated with a shorter time to first lambing and a shorter period between lambings...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726391/tumor-associated-mutations-in-caspase-6-negatively-impact-catalytic-efficiency
#6
Kevin B Dagbay, Maureen E Hill, Elizabeth Barrett, Jeanne A Hardy
Unregulated, particularly suppressed programmed cell death is one of the distinguishing features of many cancer cells. The cysteine protease caspase-6, one of the executioners of apoptotic cell death, plays a crucial role in regulation of apoptosis. Several CASP6 gene somatic mutations in tumor tissues have been reported. This work explores the effect of CASP6 tumor-associated mutations on the catalytic efficiency and structure of caspase-6. In general, these mutations showed decreased overall catalytic turnover...
July 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28726340/factors-influencing-property-selection-for-conservation-revolving-funds
#7
Mathew J Hardy, James A Fitzsimons, Sarah A Bekessy, Ascelin Gordon
Finding sustainable ways to increase the amount of private land protected for biodiversity is a challenge for many conservation organizations. In a number of countries, organizations use 'revolving fund' programs, whereby land is purchased, and then on-sold to conservation-minded owners with a condition to enter into a conservation covenant or easement. The proceeds from sale are then used to purchase, protect and on-sell additional properties, incrementally increasing the amount of protected private land. As the effectiveness of this approach relies upon selecting the right properties, we sought to explore the factors currently considered by practitioners and how these are integrated into decision-making...
July 20, 2017: Conservation Biology: the Journal of the Society for Conservation Biology
https://www.readbyqxmd.com/read/28725564/post-partum-streptococcal-toxic-shock-syndrome-associated-with-necrotizing-fasciitis
#8
Wei Chuan Chua, Mohd Zulfakar Mazlan, Saedah Ali, Sanihah Che Omar, Wan Mohd Nazaruddin Wan Hassan, S Praveena Seevaunnantum, Rhendra Hardy Mohd Zaini, Mohd Hasyizan Hassan, Alwi Muhd Besari, Zaidah Abd Rahman, Zeti Norfidiyati Salmuna Ayub, Sabrina Abd Ghani, Normalinda Yaacob, Wan Rosilawati Wan Rosli
We report a fatal case of post-partum streptococcal toxic shock syndrome in a patient who was previously healthy and had presented to the emergency department with an extensive blistering ecchymotic lesions over her right buttock and thigh associated with severe pain. The pregnancy had been uncomplicated, and the mode of delivery had been spontaneous vaginal delivery with an episiotomy. She was found to have septicemic shock requiring high inotropic support. Subsequently, she was treated for necrotizing fasciitis, complicated by septicemic shock and multiple organ failures...
2017: IDCases
https://www.readbyqxmd.com/read/28725391/explaining-naturalization-and-invasiveness-new-insights-from-historical-ornamental-plant-catalogs
#9
Claude Lavoie, Simon Joly, Alexandre Bergeron, Geneviève Guay, Elisabeth Groeneveld
We identified plant attributes associated with naturalization and invasiveness using century-old ornamental plant catalogs from Québec (Canada). We tested the hypothesis that naturalization is determined by fewer factors than invasiveness, as the latter also requires dispersal, which introduces additional complexity. The approach we used took into account not only plant attributes as explanatory factors, but also propagule pressure, while accounting for phylogenetic relationships among species. Museum collections were used, in combination with scientific journal databases, to assess invasiveness...
October 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/28724947/marker-trait-association-analysis-of-frost-tolerance-of-672-worldwide-pea-pisum-sativum-l-collections
#10
Rong Liu, Li Fang, Tao Yang, Xiaoyan Zhang, Jinguo Hu, Hongyan Zhang, Wenliang Han, Zeke Hua, Junjie Hao, Xuxiao Zong
Frost stress is one of the major abiotic stresses causing seedling death and yield reduction in winter pea. To improve the frost tolerance of pea, field evaluation of frost tolerance was conducted on 672 diverse pea accessions at three locations in Northern China in three growing seasons from 2013 to 2016 and marker-trait association analysis of frost tolerance were performed with 267 informative SSR markers in this study. Sixteen accessions were identified as the most winter-hardy for their ability to survive in all nine field experiments with a mean survival rate of 0...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724679/improving-health-outcomes-in-a-rural-community-roanoke-valley-community-health-initiative
#11
Audrey L Hardy, Melissa Haithcox-Dennis
For the past 7 years, The Roanoke Valley Community Health Initiative has made inroads in the fight against obesity in Halifax County. The group has leveraged valuable resources to maximize collective impact in the Roanoke Valley. The Health Initiative's work continues to be a catalyst for positive change across the region.
July 2017: North Carolina Medical Journal
https://www.readbyqxmd.com/read/28723948/integrative-functional-analyses-using-rainbow-trout-selected-for-tolerance-to-plant-diets-reveal-nutrigenomic-signatures-for-soy-utilization-without-the-concurrence-of-enteritis
#12
Jason Abernathy, Andreas Brezas, Kevin R Snekvik, Ronald W Hardy, Ken Overturf
Finding suitable alternative protein sources for diets of carnivorous fish species remains a major concern for sustainable aquaculture. Through genetic selection, we created a strain of rainbow trout that outperforms parental lines in utilizing an all-plant protein diet and does not develop enteritis in the distal intestine, as is typical with salmonids on long-term plant protein-based feeds. By incorporating this strain into functional analyses, we set out to determine which genes are critical to plant protein utilization in the absence of gut inflammation...
2017: PloS One
https://www.readbyqxmd.com/read/28723898/fructose-1-6-bisphosphate-and-aldolase-mediate-glucose-sensing-by-ampk
#13
Chen-Song Zhang, Simon A Hawley, Yue Zong, Mengqi Li, Zhichao Wang, Alexander Gray, Teng Ma, Jiwen Cui, Jin-Wei Feng, Mingjiang Zhu, Yu-Qing Wu, Terytty Yang Li, Zhiyun Ye, Shu-Yong Lin, Huiyong Yin, Hai-Long Piao, D Grahame Hardie, Sheng-Cai Lin
The major energy source for most cells is glucose, from which ATP is generated via glycolysis and/or oxidative metabolism. Glucose deprivation activates AMP-activated protein kinase (AMPK), but it is unclear whether this activation occurs solely via changes in AMP or ADP, the classical activators of AMPK. Here, we describe an AMP/ADP-independent mechanism that triggers AMPK activation by sensing the absence of fructose-1,6-bisphosphate (FBP), with AMPK being progressively activated as extracellular glucose and intracellular FBP decrease...
July 19, 2017: Nature
https://www.readbyqxmd.com/read/28723499/prospective-evaluation-of-the-impact-of-antiangiogenic-treatment-on-cognitive-functions-in-metastatic-renal-cancer
#14
Florence Joly, Natacha Heutte, Brigitte Duclos, Sabine Noal, Isabelle Léger-Hardy, Sarah Dauchy, Nadine Longato, Laurence Desrues, Nadine Houede, Marie Lange, Emmanuel Sevin, Chantal Rieux, Bénédicte Clarisse, Hélène Castel, Bernard Escudier
BACKGROUND: Little is known about the cognitive effects of antiangiogenic therapies (AATs) in metastatic renal cell carcinoma (mRCC) and their relation with fatigue. OBJECTIVE: To evaluate the impact of AATs on cognition and its connection with fatigue and quality of life (QoL) in patients with mRCC. DESIGN, SETTING, AND PARTICIPANTS: This prospective study enrolled 75 patients starting AAT as first or second line for mRCC and assessed them at 3 mo (n=58) and 6 mo (n=50)...
December 15, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28722630/the-effects-of-an-integrated-community-case-management-strategy-on-the-appropriate-treatment-of-children-and-child-mortality-in-kono-district-sierra-leone-a-program-evaluation
#15
Ruwan Ratnayake, Jeffrey Ratto, Colleen Hardy, Curtis Blanton, Laura Miller, Mary Choi, John Kpaleyea, Pheabean Momoh, Yolanda Barbera
Integrated community case management (iCCM) aims to reduce child mortality in areas with poor access to health care. iCCM was implemented in 2009 in Kono district, Sierra Leone, a postconflict area with high under-five mortality rates (U5MRs). We evaluated iCCM's impact and effects on child health using cluster surveys in 2010 (midterm) and 2013 (endline) to compare indicators on child mortality, coverage of appropriate treatment, timely access to care, quality of care, and recognition of community health workers (CHWs)...
June 12, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28722245/patient-blood-management-in-obstetrics-management-of-anaemia-and-haematinic-deficiencies-in-pregnancy-and-in-the-post-partum-period-nata-consensus-statement
#16
M Muñoz, J P Peña-Rosas, S Robinson, N Milman, W Holzgreve, C Breymann, F Goffinet, J Nizard, F Christory, C-M Samama, J-F Hardy
No abstract text is available yet for this article.
July 19, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28721149/apolipoprotein-a1-polymorphisms-and-risk-of-coronary-artery-disease-a-meta-analysis
#17
Lang-Biao Xu, Ya-Feng Zhou, Jia-Lu Yao, Si-Jia Sun, Qing Rui, Xiang-Jun Yang, Xiao-Bo Li
INTRODUCTION: It has been reported that APOA1 -75G/A polymorphism might be associated with susceptibility to coronary artery disease (CAD). Owing to mixed and inconclusive results, we conducted a meta-analysis to systematically summarize and clarify the association between APOA1-75G/A polymorphism and the risk of CAD. MATERIAL AND METHODS: A systematic search of studies on the association of single nucleotide polymorphisms (SNP) with susceptibility to CAD was conducted...
June 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28720266/strengths-and-resources-used-by-australian-and-danish-adult-patients-and-their-family-caregivers-during-treatment-for-cancer
#18
E Coyne, K B Dieperink, B Østergaard, D K Creedy
PURPOSE: Family plays an essential role in supporting the patient with cancer, however, relatively little attention has been given to understanding the strengths and resources of the family unit across different settings and countries. This study aims to investigate the strengths and resources of patients and family members in Australia and Denmark. METHODS: Using a descriptive, cross-sectional design, 232 patient and family participants from inpatient and outpatient oncology services in Australia and Denmark completed paper based surveys that included the Family Hardiness Index (FHI) and Family Crisis Orientated Personal Evaluation Scales (F-COPES), together with demographic and health information...
August 2017: European Journal of Oncology Nursing: the Official Journal of European Oncology Nursing Society
https://www.readbyqxmd.com/read/28717999/macro-and-microclimate-conditions-may-alter-grapevine-deacclimation-variation-in-thermal-amplitude-in-two-contrasting-wine-regions-from-north-and-south-america
#19
Francisco Gonzalez Antivilo, Rosalía Cristina Paz, Markus Keller, Roberto Borgo, Jorge Tognetti, Fidel Roig Juñent
Low temperature is a limiting factor that affects vineyard distribution globally. The level of cold hardiness acquired during the dormant season by Vitis sp. is crucial for winter survival. Most research published on this topic has been generated beyond 40° N latitude, where daily mean temperatures may attain injurious levels during the dormant season resulting in significant damage to vines and buds. Symptoms of cold injury have been identified in Mendoza (32-35° S latitude), a Southern Hemisphere wine region characterized by a high thermal amplitude, and warm winds during the dormant season...
July 17, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28717960/population-genetic-analysis-of-the-globalfiler-str-loci-in-3032-individuals-from-the-altay-han-population-of-xinjiang-in-northwest-china
#20
XueBo Li, Liangliang Li, Qingshan Wang, Jianzhong Zhang, Wendong Ge, Rufeng Bai, Xiaojun Yu, Meisen Shi
The genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci included in the GlobalFiler™ PCR Amplification Kit were evaluated in 3032 unrelated individuals Altay Han of Xinjiang, northwest China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. SE33 showed the greatest power of discrimination in Altay Han population, whereas TPOX showed the lowest. The combined discrimination power and probability of excluding paternity of the 21 autosomal STR loci were 0...
July 17, 2017: International Journal of Legal Medicine
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