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https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28643093/the-impact-of-trained-radiographers-as-concurrent-readers-on-performance-and-reading-time-of-experienced-radiologists-in-the-uk-lung-cancer-screening-ukls-trial
#2
Arjun Nair, Nicholas J Screaton, John A Holemans, Diane Jones, Leigh Clements, Bruce Barton, Natalie Gartland, Stephen W Duffy, David R Baldwin, John K Field, David M Hansell, Anand Devaraj
OBJECTIVES: To compare radiologists' performance reading CTs independently with their performance using radiographers as concurrent readers in lung cancer screening. METHODS: 369 consecutive baseline CTs performed for the UK Lung Cancer Screening (UKLS) trial were double-read by radiologists reading either independently or concurrently with a radiographer. In concurrent reading, the radiologist reviewed radiographer-identified nodules and then detected any additional nodules...
June 22, 2017: European Radiology
https://www.readbyqxmd.com/read/28642595/3d-bayesian-cluster-analysis-of-super-resolution-data-reveals-lat-recruitment-to-the-t-cell-synapse
#3
Juliette Griffié, Leigh Shlomovich, David J Williamson, Michael Shannon, Jesse Aaron, Satya Khuon, Garth L Burn, Lies Boelen, Ruby Peters, Andrew P Cope, Edward A K Cohen, Patrick Rubin-Delanchy, Dylan M Owen
Single-molecule localisation microscopy (SMLM) allows the localisation of fluorophores with a precision of 10-30 nm, revealing the cell's nanoscale architecture at the molecular level. Recently, SMLM has been extended to 3D, providing a unique insight into cellular machinery. Although cluster analysis techniques have been developed for 2D SMLM data sets, few have been applied to 3D. This lack of quantification tools can be explained by the relative novelty of imaging techniques such as interferometric photo-activated localisation microscopy (iPALM)...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641687/preparing-safety-cases-for-operating-outside-prescriptive-fatigue-risk-management-regulations
#4
Philippa Gander, Jim Mangie, Lora Wu, Margo van den Berg, Leigh Signal, Adrienne Phillips
INTRODUCTION: Transport operators seeking to operate outside prescriptive fatigue management regulations are typically required to present a safety case justifying how they will manage the associated risk. This paper details a method for constructing a successful safety case. METHODS: The method includes four elements: 1) scope (prescriptive rules and operations affected); 2) risk assessment; 3) risk mitigation strategies; and 4) monitoring ongoing risk. A successful safety case illustrates this method...
July 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28640046/urgent-care-a-growing-healthcare-landscape
#5
Leigh Miranda Ashton
No abstract text is available yet for this article.
July 2017: Nursing
https://www.readbyqxmd.com/read/28639642/cleavage-of-ethers-in-an-ionic-liquid-enhancement-selectivity-and-potential-application
#6
William E S Hart, Leigh Aldous, Jason B Harper
The cleavage of a series of ethers was examined in an ionic liquid containing hydrogen bromide. Reactions that did not proceed in either water or DMSO were found to proceed readily in this system, with notable selectivity between the cleavage of the different ether types examined herein. Increasing the proportion of water in the reaction mixture dramatically decreased the rate constant of ether cleavage; this could, in part, be attributed to a decrease in the solvent stabilisation of the transition state. Through analysis of the electronic requirements of the reaction (using substrates containing substituents with different Hammett parameters) and observation of rate enhancements for an ortho substituted system, the importance of the extent of protonation of the ether prior to nucleophilic attack was demonstrated...
June 22, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28639301/improving-the-detection-sensitivity-of-ph-weighted-amide-proton-transfer-mri-in-acute-stroke-patients-using-extrapolated-semisolid-magnetization-transfer-reference-signals
#7
Hye-Young Heo, Yi Zhang, Tina M Burton, Shanshan Jiang, Yansong Zhao, Peter C M van Zijl, Richard Leigh, Jinyuan Zhou
PURPOSE: To quantify amide protein transfer (APT) effects in acidic ischemic lesions and assess the spatial-temporal relationship among diffusion, perfusion, and pH deficits in acute stroke patients. METHODS: Thirty acute stroke patients were scanned at 3 T. Quantitative APT (APT(#) ) effects in acidic ischemic lesions were measured using an extrapolated semisolid magnetization transfer reference signal technique and compared with commonly used MTRasym (3.5ppm) or APT-weighted parameters...
June 21, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#8
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28636832/nutrient-deficiencies-are-common-prior-to-bariatric-surgery
#9
Leigh A Frame-Peterson, Robin D Megill, Suzanne Carobrese, Michael Schweitzer
Obesity, defined as a body mass index >30 kg/m(2), is a growing worldwide epidemic currently effecting 1 in 10 adults, with rates as high as 40% in the United States. The only proven long-term treatment of severe obesity on a population level is surgical modification of the gastrointestinal anatomy to induce weight loss, termed bariatric surgery. With adequate physician guidance and appropriate candidate criteria, bariatric surgery is an option for effective long-term treatment of obesity and its related comorbidities...
June 1, 2017: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/28636785/sperm-competition-suppresses-gene-drive-among-experimentally-evolving-populations-of-house-mice
#10
Andri Manser, Anna K Lindholm, Leigh W Simmons, Renée C Firman
Drive genes are genetic elements that manipulate the 50% ratio of Mendelian inheritance in their own favour, allowing them to rapidly propagate through populations. The action of drive genes is often hidden, making detection and identification inherently difficult. Yet drive genes can have profound evolutionary consequences for the populations that harbour them: most known drivers are detrimental to organismal gamete development, reproduction and survival. In this study, we identified the presence of a well-known drive gene called t haplotype post-hoc in eight replicate selection lines of house mice that had been evolving under enforced monandry or polyandry for 20 generations...
June 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28633381/robust-tests-for-additive-gene-environment-interaction-in-case-control-studies-using-gene-environment-independence
#11
Gang Liu, Seunggeun Lee, Alice W Lee, Anna H Wu, Elisa V Bandera, Allan Jensen, Mary Anne Rossing, Kirsten B Moysich, Jenny Chang-Claude, Jennifer Doherty, Aleksandra Gentry-Maharaj, Lambertus Kiemeney, Simon A Gayther, Francesmary Modugno, Leon Massuger, Ellen L Goode, Brooke Fridley, Kathryn L Terry, Daniel W Cramer, Susan J Ramus, Hoda Anton-Culver, Argyrios Ziogas, Jonathan P Tyrer, Joellen M Schildkraut, Susanne K Kjaer, Penelope M Webb, Roberta B Ness, Usha Menon, Andrew Berchuck, Paul D Pharoah, Harvey Risch, Celeste Leigh Pearce, Bhramar Mukherjee
There have been recent proposals advocating the use of additive gene-environment interaction instead of the widely used multiplicative scale, as a more relevant public health measure. Using gene-environment independence enhances the power for testing multiplicative interaction in case-control studies. However, under departure from this assumption, substantial bias in the estimates and inflated Type I error in the corresponding tests can occur. This paper extends the empirical Bayes (EB) approach previously developed for multiplicative interaction that trades off between bias and efficiency in a data-adaptive way, to the additive scale...
June 14, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28632945/developing-multidisciplinary-clinics-for-neuromuscular-care-and-research
#12
REVIEW
Sabrina Paganoni, Katie Nicholson, Fawn Leigh, Kathryn Swoboda, David Chad, Kristin Drake, Kellen Haley, Merit Cudkowicz, James D Berry
Multidisciplinary care is considered the standard-of-care for both adult and pediatric neuromuscular disorders and has been associated with improved quality of life, resource utilization, and health outcomes. Multidisciplinary care is delivered in multidisciplinary clinics that coordinate care across multiple specialties reducing travel burden and streamlining care. In addition, multidisciplinary care setting facilitates the integration of clinical research, patient advocacy, and care innovation (e.g., TeleHealth)...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28630335/qnas-with-robert-townsend
#13
Leigh Cooper
No abstract text is available yet for this article.
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28629481/depression-inflammation-and-memory-loss-among-mexican-americans-analysis-of-the-hable-cohort
#14
Leigh A Johnson, Melissa Edwards, Adriana Gamboa, James Hall, Michelle Robinson, Sid E O'Bryant
BACKGROUND: This study explored the combined impact of depression and inflammation on memory functioning among Mexican-American adults and elders. METHODS: Data were analyzed from 381 participants of the Health and Aging Brain study among Latino Elders (HABLE). Fasting serum samples were collected and assayed in duplicate using electrochemiluminesce on the SECTOR Imager 2400A from Meso Scale Discovery. Positive DepE (depression endophenotype) was codified as any score >1 on a five-point scale based on the GDS-30...
June 20, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28627882/switching-between-anion-binding-catalysis-and-amino-catalysis-with-a-rotaxane-dual-function-catalyst
#15
Katarzyna Eichstaedt, Javier Jaramillo-Garcia, David A Leigh, Vanesa Marcos, Simone Pisano, Thomas A Singleton
The 'off' state for aminocatalysis by a switchable [2]rotaxane is shown to correspond to an 'on' state for anion-binding catalysis. Conversely, the aminocatalysis 'on' state of the dual-function rotaxane is inactive in anion-binding catalysis. Switching between the different states is achieved through the stimuli-induced change of position of the macrocycle on the rotaxane thread. The anion-binding catalysis results from a pair of triazolium groups that act together to CH-hydrogen bond to halide anions when the macrocycle is located on an alternative (ammonium) binding site, stabilizing the in situ generation of benzhydril cation and oxonium ion intermediates from activated alkyl halides...
June 19, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28626445/adverse-childhood-experiences-are-linked-to-age-of-onset-and-reading-recognition-in-multiple-sclerosis
#16
Michael T Shaw, Natalie O Pawlak, Ariana Frontario, Kathleen Sherman, Lauren B Krupp, Leigh E Charvet
BACKGROUND: Adverse childhood experiences (ACEs) exert a psychological and physiological toll that increases risk of chronic conditions, poorer social functioning, and cognitive impairment in adulthood. OBJECTIVE: To investigate the relationship between childhood adversity and clinical disease features in multiple sclerosis (MS). METHODS: Sixty-seven participants with MS completed the ACE assessment and neuropsychological assessments as part of a larger clinical trial of cognitive remediation...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28625195/consistency-matters-consistency-in-the-timing-and-quality-of-daily-interactions-between-parents-and-adolescents-predicts-production-of-proinflammatory-cytokines-in-youths
#17
Erika M Manczak, Adam K K Leigh, Chia-Ping Chin, Edith Chen
The current study examined whether consistency in day-to-day interactions between children and parents related to inflammatory cytokine production in youths. One hundred twenty-three parents recorded the daily quality of interactions and timing of leisure activities with their adolescent children for 2 weeks, and the degree of variability in those ratings was calculated. One year later, the production of proinflammatory cytokines in youths' blood was measured in response to in vitro exposure to lipopolysaccharide (a bacterial product)...
June 19, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28624154/lymphedema-following-gynecological-cancer-results-from-a-prospective-longitudinal-cohort-study-on-prevalence-incidence-and-risk-factors
#18
Sandra C Hayes, Monika Janda, Leigh C Ward, Hildegard Reul-Hirche, Megan L Steele, Johnathan Carter, Michael Quinn, Bruce Cornish, Andreas Obermair
OBJECTIVE: Cancer-related lymphedema is a debilitating condition that adversely influences function, health and quality of life. The purpose of this study was to assess the prevalence, incidence, and risk factors of lower-limb lymphedema pre- through to 24months post-surgery for gynecological cancer. METHODS: A clinic-based sample of women (n=408) with gynecological cancer participated in a prospective, longitudinal study (2008-2011) using self-reported measures (swelling in one or both legs) and objectively measured lymphedema (bioimpedance spectroscopy) at baseline (pre-surgery), six weeks-three months, 6-12months, and 15-24months post-surgery...
June 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28621939/-2-rotaxane-formation-by-transition-state-stabilization
#19
Guillaume De Bo, Guillaume Dolphijn, Charlie T McTernan, David A Leigh
We report on the synthesis of [2]rotaxanes driven by stabilization of the axle-forming transition state. A bifunctional macrocycle, with hydrogen bond donors at one end and acceptors at the other, is used to stabilize the charges that develop during the addition of a primary amine to a cyclic sulfate.
June 16, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28621208/stem-cells-in-court-historical-trends-in-us-legal-cases-related-to-stem-cells
#20
Andreia Martins Martinho, Leigh Turner
Using two legal research platforms, we identified 193 stem-cell-related legal cases that were decided in US courts. Classifying the cases by category, we examined historical trends in the types of legal cases related to stem cells. Major types of cases involved plaintiffs seeking to overturn denial of health insurance coverage decisions, disputes related to intellectual property, false advertising, breaches of contract, exposure to hazardous agents, regulatory decisions, stem cell procedures and professional standard of care, use of stems cells in research, and public funding of embryonic stem cell research...
June 16, 2017: Regenerative Medicine
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