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https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#1
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29780612/the-sound-of-jacqueline-du-pr%C3%A3-revisiting-her-medical-and-musical-history
#2
REVIEW
Luis Octavio Tierradentro-García, Juan Sebastián Botero-Meneses, Claudia Talero-Gutiérrez
Jacqueline du Pré was a British cellist, famous for her masterful interpretations and her passionate style of playing. Her outstanding musical career was, unfortunately, cut short by multiple sclerosis. In the present paper, we conduct a historical and medical analysis of her life story, discussing a few aspects regarding her illness and treatment options available at the time of her diagnosis.
April 2018: Multiple Sclerosis Journal—Experimental, Translational and Clinical
https://www.readbyqxmd.com/read/29779800/treatment-strategies-and-survival-outcomes-in-older-women-with-breast-cancer-a-comparative-study-between-the-focus-cohort-and-nottingham-cohort
#3
Hugo Schuil, Marloes Derks, Gerrit-Jan Liefers, Johanneke Portielje, Cornelis van de Velde, Binafsha Syed, Andrew Green, Ian Ellis, Kwok-Leung Cheung, Esther Bastiaannet
OBJECTIVE: Clinical trials investigating breast cancer treatment often exclude or misrepresent older adults. This study compares treatment patterns and survival of older women diagnosed with breast cancer between a Dutch and a British observational cohort. MATERIALS AND METHODS: Women aged 70 years and older diagnosed with breast cancer after 1990 with a T0-T2 tumor stage and no evidence of metastatic disease were included from a population-based cohort in the Netherlands and a British hospital-based cohort in Nottingham...
May 18, 2018: Journal of Geriatric Oncology
https://www.readbyqxmd.com/read/29778861/multicenter-randomized-controlled-crossover-trial-comparing-hemodynamic-optimization-against-echocardiographic-optimization-of-av-and-vv-delay-of-cardiac-resynchronization-therapy-the-bravo-trial
#4
Zachary I Whinnett, S M Afzal Sohaib, Mark Mason, Edward Duncan, Mark Tanner, David Lefroy, Mohamed Al-Obaidi, Sue Ellery, Francisco Leyva-Leon, Tim Betts, Mark Dayer, Paul Foley, Jon Swinburn, Martin Thomas, Raj Khiani, Tom Wong, Zaheer Yousef, Dominic Rogers, Paul R Kalra, Vignesh Dhileepan, Katherine March, James Howard, Andreas Kyriacou, Jamil Mayet, Prapa Kanagaratnam, Michael Frenneaux, Alun D Hughes, Darrel P Francis
OBJECTIVES: BRAVO (British Randomized Controlled Trial of AV and VV Optimization) is a multicenter, randomized, crossover, noninferiority trial comparing echocardiographic optimization of atrioventricular (AV) and interventricular delay with a noninvasive blood pressure method. BACKGROUND: Cardiac resynchronization therapy including AV delay optimization confers clinical benefit, but the optimization requires time and expertise to perform. METHODS: This study randomized patients to echocardiographic optimization or hemodynamic optimization using multiple-replicate beat-by-beat noninvasive blood pressure at baseline; after 6 months, participants were crossed over to the other optimization arm of the trial...
May 11, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29778726/incidence-determinants-and-outcomes-of-left-and-right-radial-access-use-in-patients-undergoing-percutaneous-coronary-intervention-in-the-united-kingdom-a-national-perspective-using-the-bcis-dataset
#5
Muhammad Rashid, Claire Lawson, Jessica Potts, Evangelos Kontopantelis, Chun Shing Kwok, Olivier F Bertrand, Ahmad Shoaib, Peter Ludman, Tim Kinnaird, Mark de Belder, James Nolan, Mamas Mamas
OBJECTIVES: The authors sought to determine the relationships between left radial access (LRA) or right radial access (RRA) and clinical outcomes using the British Cardiovascular Intervention Society (BCIS) database. BACKGROUND: LRA has been shown to offer procedural advantages over RRA in percutaneous coronary intervention (PCI) although few data exist from a national perspective around its use and association with clinical outcomes. METHODS: The authors investigated the relationship between use of LRA or RRA and clinical outcomes of in-hospital or 30-day mortality, major adverse cardiovascular events, in-hospital stroke, and major bleeding complications in patients undergoing PCI between 2007 and 2014...
May 11, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29778365/cerebral-microbleeds-and-intracranial-haemorrhage-risk-in-patients-anticoagulated-for-atrial-fibrillation-after-acute-ischaemic-stroke-or-transient-ischaemic-attack-cromis-2-a-multicentre-observational-cohort-study
#6
Duncan Wilson, Gareth Ambler, Clare Shakeshaft, Martin M Brown, Andreas Charidimou, Rustam Al-Shahi Salman, Gregory Y H Lip, Hannah Cohen, Gargi Banerjee, Henry Houlden, Mark J White, Tarek A Yousry, Kirsty Harkness, Enrico Flossmann, Nigel Smyth, Louise J Shaw, Elizabeth Warburton, Keith W Muir, Hans Rolf Jäger, David J Werring
BACKGROUND: Cerebral microbleeds are a potential neuroimaging biomarker of cerebral small vessel diseases that are prone to intracranial bleeding. We aimed to determine whether presence of cerebral microbleeds can identify patients at high risk of symptomatic intracranial haemorrhage when anticoagulated for atrial fibrillation after recent ischaemic stroke or transient ischaemic attack. METHODS: Our observational, multicentre, prospective inception cohort study recruited adults aged 18 years or older from 79 hospitals in the UK and one in the Netherlands with atrial fibrillation and recent acute ischaemic stroke or transient ischaemic attack, treated with a vitamin K antagonist or direct oral anticoagulant, and followed up for 24 months using general practitioner and patient postal questionnaires, telephone interviews, hospital visits, and National Health Service digital data on hospital admissions or death...
June 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29777062/brock-malignancy-risk-calculator-for-pulmonary-nodules-validation-outside-a-lung-cancer-screening-population
#7
Kaman Chung, Onno M Mets, Paul K Gerke, Colin Jacobs, Annemarie M den Harder, Ernst T Scholten, Mathias Prokop, Pim A de Jong, Bram van Ginneken, Cornelia M Schaefer-Prokop
OBJECTIVE: To assess the performance of the Brock malignancy risk model for pulmonary nodules detected in routine clinical setting. METHODS: In two academic centres in the Netherlands, we established a list of patients aged ≥40 years who received a chest CT scan between 2004 and 2012, resulting in 16 850 and 23 454 eligible subjects. Subsequent diagnosis of lung cancer until the end of 2014 was established through linking with the National Cancer Registry...
May 18, 2018: Thorax
https://www.readbyqxmd.com/read/29776384/competence-of-mosquitoes-native-to-the-united-kingdom-to-support-replication-and-transmission-of-rift-valley-fever-virus
#8
Sarah Lumley, Luis M Hernández-Triana, Daniel L Horton, Maria Del Mar Fernández de Marco, Jolyon M Medlock, Roger Hewson, Anthony R Fooks, Nicholas Johnson
BACKGROUND: Rift Valley fever phlebovirus (RVFV) is a mosquito-borne arbovirus causing severe disease in humans and livestock. It is endemic in Africa and spread to the Arabian Peninsula in 2000 raising concerns it could emerge in Europe. The ability of temperate mosquitoes from the United Kingdom (UK) to support replication and transmission of RVFV is unknown. METHODS: In this study, two colonised lines of Culex pipiens, wild-caught Aedes detritus and Ae. rusticus from the UK were infected with pathogenic strains of RVFV to assess their vector competence...
May 18, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29775871/associations-between-abuse-neglect-and-adhd-from-childhood-to-young-adulthood-a-prospective-nationally-representative-twin-study
#9
Adi Stern, Jessica Agnew-Blais, Andrea Danese, Helen L Fisher, Sara R Jaffee, Timothy Matthews, Guilherme V Polanczyk, Louise Arseneault
Child maltreatment has consistently been found to be associated with attention deficit/hyperactivity disorder (ADHD). However, the robustness of this association and the direction of the link between maltreatment and ADHD remain unclear. We used data from the Environmental Risk (E-Risk) Longitudinal Twin Study, a cohort of 2232 British twins, to investigate the associations between exposure to abuse/neglect and ADHD in childhood and in young adulthood, and to test their robustness and specificity. We also aimed to test longitudinal associations between abuse/neglect and ADHD from childhood to young adulthood, controlling for confounders...
May 15, 2018: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29775543/native-bacterial-communities-and-listeria-monocytogenes-survival-in-soils-collected-from-the-lower-mainland-of-british-columbia-canada
#10
Justin Falardeau, Khalil Walji, Maxime Haure, Karen Fong, Gregory A Taylor, Yussanne Ma, Sean Smukler, Siyun Wang
Soil is an important reservoir for Listeria monocytogenes, a foodborne pathogen implicated in numerous produce-related outbreaks. Our objective was to (i) compare the survival of L. monocytogenes between three soils, (ii) compare the native bacterial communities across these soils, and (iii) investigate relationships between L. monocytogenes survival, native bacterial communities, and soil properties. Listeria spp. populations were monitored on PALCAM agar in three soils inoculated with L. monocytogenes (~5 x 106 CFU/g): conventionally farmed (CS), grassland transitioning to conventionally farmed (TS), and uncultivated grassland (GS)...
May 18, 2018: Canadian Journal of Microbiology
https://www.readbyqxmd.com/read/29774538/oral-propranolol-in-the-treatment-of-proliferating-infantile-haemangiomas-the-british-society-for-paediatric-dermatology-consensus-guidelines
#11
L Solman, M Glover, P E Beattie, H Buckley, S Clark, J E Gach, A Giardini, I Helbling, R J Hewitt, B Laguda, S M Langan, A E Martinez, R Murphy, L Proudfoot, J Ravenscroft, H Shahidullah, L Shaw, S B Syed, L Wells, C Flohr
BACKGROUND: Infantile haemangiomas (IH) are the most common vascular tumours of infancy. Despite their frequency and potential complications, there are currently no unified UK guidelines for the treatment of IH with propranolol. There are still uncertainties and diverse opinions regarding indications, pre-treatment investigations, its use in PHACES syndrome, and cessation of treatment. METHODS: This study used a modified Delphi technique, which involved an international treatment survey, a systematic evidence review of the literature, a face-to-face multidisciplinary panel meeting and anonymous voting...
May 17, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29774361/diagnostic-performance-of-ata-bta-and-tirads-sonographic-patterns-in-the-predication-of-malignancy-in-histologically-proven-thyroid-nodules
#12
Chiaw Ling Chng, Hong Chang Tan, Chow Wei Too, Wei Ying Lim, Priscilla Pei Sze Chiam, Ling Zhu, Nivedita Vikas Nadkarni, Adoree Yi Ying Lim
INTRODUCTION: We aimed to compare the malignancy risk stratification of histologically proven thyroid nodules using the 2015 American Thyroid Association (ATA) Management Guidelines, 2014 British Thyroid Association (BTA) Guidelines for the Management of Thyroid Cancer and Thyroid Imaging Reporting and Data System (TIRADS). METHODS: Thyroid nodules measuring > 1 cm resected over 5.5 years were retrospectively studied. Information like gender and age, and cytology and histopathology results were collected...
May 18, 2018: Singapore Medical Journal
https://www.readbyqxmd.com/read/29774267/-the-men-who-made-the-breakthrough-how-the-british-press-represented-patrick-steptoe-and-robert-edwards-in-1978
#13
Katharine Dow
This article examines how the British press represented Patrick Steptoe and Robert Edwards in the story of the birth of the first 'test-tube baby', Louise Brown. In 1978, the British press represented the birth of Louise Brown as both a success and a source of hope. The main pairs of protagonists in this story were Steptoe and Edwards and Lesley and John Brown, who metonymically represented British science and infertile couples, respectively. In the dominant 'success' narrative of the birth of Louise Brown as depicted in the British press in 1978, Edwards and Steptoe seemed to embody 'British' values of industriousness, perseverance, altruism, ingenuity and teamwork...
June 2017: Reproductive Biomedicine & Society Online
https://www.readbyqxmd.com/read/29773706/correction-are-sweet-snacks-more-sensitive-to-price-increases-than-sugar-sweetened-beverages-analysis-of-british-food-purchase-data
#14
(no author information available yet)
No abstract text is available yet for this article.
May 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29773622/genome-sequences-of-13-isolates-of-salmonella-enterica-serovar-typhimurium-var-copenhagen-obtained-from-wild-pigeons-in-canada
#15
Bridget Xie, Andrée Ann Dupras, Marc-Olivier Duceppe, Nooshin Fattahi-Ghazi, Lawrence Goodridge, Dele Ogunremi
Pigeon-adapted strains of Salmonella enterica serovar Typhimurium var. Copenhagen phage types 2 and 99 obtained from the provinces of Alberta, British Columbia, and Ontario, Canada, were analyzed using whole-genome sequencing. All isolates contained the Salmonella virulence plasmid despite the low pathogenicity of this lineage in their avian host.
May 17, 2018: Genome Announcements
https://www.readbyqxmd.com/read/29773120/age-specific-association-between-blood-pressure-and-vascular-and-non-vascular-chronic-diseases-in-0%C3%A2-5-million-adults-in-china-a-prospective-cohort-study
#16
Ben Lacey, Sarah Lewington, Robert Clarke, Xiang Ling Kong, Yiping Chen, Yu Guo, Ling Yang, Derrick Bennett, Fiona Bragg, Zheng Bian, Shaojie Wang, Hua Zhang, Junshi Chen, Robin G Walters, Rory Collins, Richard Peto, Liming Li, Zhengming Chen
BACKGROUND: The age-specific association between blood pressure and vascular disease has been studied mostly in high-income countries, and before the widespread use of brain imaging for diagnosis of the main stroke types (ischaemic stroke and intracerebral haemorrhage). We aimed to investigate this relationship among adults in China. METHODS: 512 891 adults (59% women) aged 30-79 years were recruited into a prospective study from ten areas of China between June 25, 2004, and July 15, 2008...
June 2018: Lancet Global Health
https://www.readbyqxmd.com/read/29773119/adiposity-and-risk-of-ischaemic-and-haemorrhagic-stroke-in-0%C3%A2-5-million-chinese-men-and-women-a-prospective-cohort-study
#17
Zhengming Chen, Andri Iona, Sarah Parish, Yiping Chen, Yu Guo, Fiona Bragg, Ling Yang, Zheng Bian, Michael V Holmes, Sarah Lewington, Ben Lacey, Ruqin Gao, Fang Liu, Zengzhi Zhang, Junshi Chen, Robin G Walters, Rory Collins, Robert Clarke, Richard Peto, Liming Li
BACKGROUND: China has high stroke rates despite the population being relatively lean. Uncertainty persists about the relevance of adiposity to risk of stroke types. We aimed to assess the associations of adiposity with incidence of stroke types and effect mediation by blood pressure in Chinese men and women. METHODS: The China Kadoorie Biobank enrolled 512 891 adults aged 30-79 years from ten areas (five urban and five rural) during 2004-08. During a median 9 years (IQR 8-10) of follow-up, 32 448 strokes (about 90% confirmed by neuroimaging) were recorded among 489 301 participants without previous cardiovascular disease...
June 2018: Lancet Global Health
https://www.readbyqxmd.com/read/29770115/the-prevalence-of-pseudoscientific-ideas-and-neuromyths-among-sports-coaches
#18
Richard P Bailey, Daniel J Madigan, Ed Cope, Adam R Nicholls
There has been an exponential growth in research examining the neurological basis of human cognition and learning. Little is known, however, about the extent to which sports coaches are aware of these advances. Consequently, the aim of the present study was to examine the prevalence of pseudoscientific ideas among British and Irish sports coaches. In total, 545 coaches from the United Kingdom and Ireland completed a measure that included questions about how evidence-based theories of the brain might enhance coaching and learning, how they were exposed to these different theories, and their awareness of neuromyths...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29770098/infectious-and-congenital-syphilis-in-canada-2010-2015
#19
Y Choudhri, J Miller, J Sandhu, A Leon, J Aho
Background: Syphilis is the third most commonly reported notifiable sexually transmitted infection (STI) in Canada, following chlamydia and gonorrhea, respectively. Rates of this STI have been rising rapidly in Canada since 2001. Objective: To summarize trends observed in syphilis rates for 2010 to 2015 in Canada. Methods: Laboratory-confirmed cases of infectious syphilis and early congenital syphilis were reported to the Public Health Agency of Canada by all of the Canadian provinces and territories...
February 1, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29770083/an-outbreak-of-shiga-toxin-producing-escherichia-coli-o121-infections-associated-with-flour-canada-2016-2017-%C3%A2
#20
V Morton, J M Cheng, D Sharma, A Kearney
As of May 23, 2017, 29 cases of a new Escherichia coli O121 infection have been identified in six provinces (Alberta, British Columbia, Newfoundland and Labrador, Ontario, Quebec and Saskatchewan) linked with the consumption of uncooked flour. One additional case was identified in a U.S. resident who traveled to Canada during the exposure period. Patients' ages ranged from 2-79 years (median = 23.5 years) and 50% were female. Eight patients were hospitalized, and one developed hemolytic uremic syndrome. Because of the recent emergence of E...
July 6, 2017: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
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