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https://www.readbyqxmd.com/read/29215649/a-craniosynostosis-massively-parallel-sequencing-panel-study-in-309-australian-and-new-zealand-patients-findings-and-recommendations
#1
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, William Lo, Hanka Venselaar, Carol-Ann Verrenkamp, Nicole Snow, David Mowat, Edwin Philip Kirk, Rani Sachdev, Janine Smith, Natasha Jane Brown, Mathew Wallis, Chris Barnett, Fiona McKenzie, Mary-Louise Freckmann, Felicity Collins, Maya Chopra, Nerine Gregersen, Ian Hayes, Sulekha Rajagopalan, Tiong Yang Tan, Zornitza Stark, Ravi Savarirayan, Alison Yeung, Lesley Adès, Michael Gattas, Kate Gibson, Michael Gabbett, David John Amor, Wanda Lattanzi, Simeon Boyd, Eric Haan, Mark Gianoutsos, Timothy Chilton Cox, Michael Francis Buckley, Tony Roscioli
PurposeThe craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis.MethodsA 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215206/once-frail-always-frail-frailty-transitions-in-home-care-users-with-intellectual-and-developmental-disabilities
#2
Lynn Martin, Katherine McKenzie, Hélène Ouellette-Kuntz
AIM: Frailty is understood as a dynamic non-linear process, and used to indicate age-related decline. Recent work has shown that adults with intellectual and developmental disabilities experience higher rates of frailty at much earlier ages than the general population. The present study describes transitions in frailty status (i.e. non-frail, pre-frail, frail) over 1 year, and explores the association between baseline frailty status and worsening/death over time. METHODS: Results are based on secondary analysis of 2893 individuals with intellectual and developmental disabilities receiving community-based home care services in Ontario (Canada)...
December 7, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/29214566/improved-diagnosis-and-care-for-rare-diseases-through-implementation-of-precision-public-health-framework
#3
Gareth Baynam, Faye Bowman, Karla Lister, Caroline E Walker, Nicholas Pachter, Jack Goldblatt, Kym M Boycott, William A Gahl, Kenjiro Kosaki, Takeya Adachi, Ken Ishii, Trinity Mahede, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Tudor Groza, Andreas Zankl, Peter N Robinson, Melissa Haendel, Michael Brudno, John S Mattick, Marcel E Dinger, Tony Roscioli, Mark J Cowley, Annie Olry, Marc Hanauer, Fowzan S Alkuraya, Domenica Taruscio, Manuel Posada de la Paz, Hanns Lochmüller, Kate Bushby, Rachel Thompson, Victoria Hedley, Paul Lasko, Kym Mina, John Beilby, Cynthia Tifft, Mark Davis, Nigel G Laing, Daria Julkowska, Yann Le Cam, Sharon F Terry, Petra Kaufmann, Iiro Eerola, Irene Norstedt, Ana Rath, Makoto Suematsu, Stephen C Groft, Christopher P Austin, Ruxandra Draghia-Akli, Tarun S Weeramanthri, Caron Molster, Hugh J S Dawkins
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29209020/a-genotype-first-approach-identifies-an-intellectual-disability-overweight-syndrome-caused-by-phip-haploinsufficiency
#4
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Daniëlle G M Bosch, Ulla A Andersen, Carl Baker, Marijke Bauters, Raphael A Bernier, Bregje W van Bon, Hedi L Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J C Stevens, Connie T Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A Veltman, Han G Brunner, Heather C Mefford, Corrado Romano, Lisenka E L M Vissers, Evan E Eichler, Bert B A de Vries
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID...
December 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29203419/flaws-in-the-application-and-interpretation-of-statistical-analyses-in-systematic-reviews-of-therapeutic-interventions-were-common-a-cross-sectional-analysis
#5
Matthew J Page, Douglas G Altman, Joanne E McKenzie, Larissa Shamseer, Nadera Ahmadzai, Dianna Wolfe, Fatemeh Yazdi, Ferrán Catalá-López, Andrea C Tricco, David Moher
OBJECTIVES: To investigate the application and interpretation of statistical analyses in a cross-section of systematic reviews (SRs) of therapeutic interventions, without restriction by journal, clinical condition, or specialty. STUDY DESIGN AND SETTING: We evaluated a random sample of SRs assembled previously, which were indexed in MEDLINE® during February 2014, focused on a treatment or prevention question, and reported at least one meta-analysis. The reported statistical methods used in each SR were extracted from articles and online appendices by one author, with a 20% random sample extracted in duplicate...
December 1, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/29201377/use-of-wearable-devices-for-post-discharge-monitoring-of-icu-patients-a-feasibility-study
#6
Ryan R Kroll, Erica D McKenzie, J Gordon Boyd, Prameet Sheth, Daniel Howes, Michael Wood, David M Maslove
Background: Wearable devices generate signals detecting activity, sleep, and heart rate, all of which could enable detailed and near-continuous characterization of recovery following critical illness. Methods: To determine the feasibility of using a wrist-worn personal fitness tracker among patients recovering from critical illness, we conducted a prospective observational study of a convenience sample of 50 stable ICU patients. We assessed device wearability, the extent of data capture, sensitivity and specificity for detecting heart rate excursions, and correlations with questionnaire-derived sleep quality measures...
2017: Journal of Intensive Care
https://www.readbyqxmd.com/read/29200189/medical-surveillance-for-hazardous-drugs-a-qualitative-assessment-of-current-practices
#7
Richard D Newcomb, Rosemary Frasso, Phoebe Cruz, Laura E Breeher, Robin G Molella, Judith Green-McKenzie
OBJECTIVE: The National Institute for Occupational Safety and Health recommends that institutions establish a medical surveillance program for workers who handle hazardous drugs. Our aim was to investigate current practices with occupational medicine practice (OMP) national leaders. METHODS: A series of qualitative telephone interviews were conducted with 11 OMP national leaders from medical centers in 10 states. Interviews were recorded, transcribed, and coded using a directed content analysis...
December 1, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29199820/multimodal-probes-superresolution-and-transmission-electron-microscopy-imaging-of-mitochondria-and-oxygen-mapping-of-cells-using-small-molecule-ir-iii-luminescent-complexes
#8
Jonathan R Shewring, Ahmet J Cankut, Luke K McKenzie, Bethany J Crowston, Stanley W Botchway, Julia A Weinstein, Elizabeth Edwards, Michael D Ward
We describe an Ir(III)-based small-molecule, multimodal probe for use in both light and electron microscopy. The direct correlation of data between light- and electron-microscopy-based imaging to investigate cellular processes at the ultrastructure level is a current challenge, requiring both dyes that must be brightly emissive for luminescence imaging and scatter electrons to give contrast for electron microscopy, at a single working concentration suitable for both methods. Here we describe the use of Ir(III) complexes as probes that provide excellent image contrast and quality for both luminescence and electron microscopy imaging, at the same working concentration...
December 4, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29197068/drivers-of-advanced-stage-at-breast-cancer-diagnosis-in-the-multi-country-african-breast-cancer-disparities-in-outcomes-abc-do-study
#9
Fiona McKenzie, Annelle Zietsman, Moses Galukande, Angelica Anele, Charles Adisa, Groesbeck Parham, Leeya Pinder, Herbert Cubasch, Maureen Joffe, Frederick Kidaaga, Robert Lukande, Awa U Offiah, Ralph O Egejuru, Aaron Shibemba, Joachim Schuz, Benjamin O Anderson, Isabel Dos Santos Silva, Valerie McCormack
Breast cancer (BC) survival rates in sub-Saharan Africa (SSA) are low in part due to advanced stage at diagnosis. As one component of a study of the entire journey of SSA women with BC, we aimed to identify shared and setting-specific drivers of advanced stage BC. Women newly diagnosed in the multi-country African Breast Cancer - Disparities in Outcomes (ABC-DO) study completed a baseline interview and their stage information was extracted from medical records. Ordinal logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) for advanced stage (I, II, III, IV) in relation to individual woman-level, referral and biological factors...
December 2, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29194005/patient-characteristics-length-of-stay-and-functional-improvement-for-schizophrenia-spectrum-disorders-a-population-study-of-inpatient-care-in-ontario-2005-to-2015
#10
Sheng Chen, April Collins, Kelly Anderson, Kwame McKenzie, Sean Kidd
OBJECTIVES: Schizophrenia and associated illnesses account for a large proportion of mental illness burden and health care expenditures, with the majority of expense involving inpatient care. To date, the literature exploring factors associated with length of stay (LOS) and functional improvement during inpatient care is underdeveloped. In response, this study examined the association between patient characteristics, LOS, and functional improvement using Ontario Mental Health Reporting System (OMHRS) data from 2005 to 2015...
December 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/29191734/splenomegaly-pathophysiological-bases-and-therapeutic-options
#11
Campbell V McKenzie, Chanukya K Colonne, Jia Hao Yeo, Stuart T Fraser
The spleen is the largest immune organ in the human body and is also essential for red blood cell homeostasis and iron recycling. An average human spleen is approximately 10 centimetres in length and weighs 150g. Pathological conditions can result in the spleen weighing in excess of 2000g and extending over 30 centrimetres in length. This remarkable property of the spleen to expand is termed splenomegaly. Splenomegaly can occur as a physiological response to stress or as a chronic process that is often detrimental to the wellbeing of the individual...
December 2, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29191598/prospective-analysis-of-patient-reported-symptoms-and-quality-of-life-in-patients-with-incurable-lung-cancer-treated-in-a-rapid-access-clinic
#12
Shilo Lefresne, Robert Olson, Rosemary Cashman, Paula Kostuik, Wei Ning Jiang, Karen Levy, Michael R Mckenzie, Ann Hulstyn, Mitchell Liu, Jonn Wu, Eric Berthelet
INTRODUCTION: The Vancouver Rapid Access (VARA) clinic was designed to provide palliative radiotherapy and holistic care to patients with incurable lung cancer. Analysis of the pilot phase demonstrated improved radiotherapy wait-times and access to supportive services compared to standard practice. This study aims to prospectively assess the impact of the clinic on patient reported symptoms and quality of life. MATERIALS AND METHODS: Patient assessments are completed at baseline and by a telephone follow up four-weeks later using Likert scales adapted from the Edmonton Symptom Assessment System (scale 0-10) and European Organization for Research and Treatment of Cancer questionnaires (scale 1-4)...
October 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29184298/changes-in-rounded-shoulder-posture-and-forward-head-posture-according-to-exercise-methods
#13
Do Youn Lee, Chan Woo Nam, Youn Bum Sung, Kyoung Kim, Hae Yong Lee
[Purpose] This study aimed to determine the effect of forward head posture-improving exercises on rounded shoulder posture when employing the self-stretch exercise, the McKenzie exercise, and the Kendall exercise as intervention methods based on previous studies that reported negative effects of unbalanced posture and musculoskeletal problems on forward head posture and rounded shoulder posture. [Subjects and Methods] The selected 28 subjects were randomly assigned into the McKenzie exercise group (n=9), the self-stretch exercise group (n=10), and the Kendall exercise group (n=9)...
October 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29183769/tpl2-positively-regulates-mapk-signaling-in-inflammation
#14
REVIEW
Daqi Xu, Marissa L Matsumoto, Brent S McKenzie, Ali A Zarrin
Tumor progression locus 2 (TPL2, also known as COT or MAP3K8) is a mitogen-activated protein kinase kinase kinase (MAP3K) activated downstream of TNFαR, IL1R, TLR, CD40, IL17R, and some GPCRs. TPL2 regulates the MEK1/2 and ERK1/2 pathways to regulate a cascade of inflammatory responses. In parallel to this, TPL2 also activates p38α and p38?? to drive the production of various inflammatory mediators in neutrophils. We discuss the implications of this finding in the context of various inflammatory diseases.
November 25, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29183509/direct-peritoneal-resuscitation-in-the-setting-of-hemorrhagic-pancreatitis
#15
Jaine McKenzie, Patricia Martinez Quinones, Caleb J Mentzer, Edward J Kruse
No abstract text is available yet for this article.
November 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/29181089/are-we-enabling-the-next-generation-to-thrive
#16
EDITORIAL
Emma McKenzie-Edwards
No abstract text is available yet for this article.
November 2017: London Journal of Primary Care
https://www.readbyqxmd.com/read/29180112/mri-evaluation-of-the-effects-of-extension-exercises-on-the-disc-fluid-content-and-location-of-the-centroid-of-the-fluid-distribution
#17
Vahid Abdollah, Eric C Parent, Michele C Battié
BACKGROUND: McKenzie prone press-up exercises have been hypothesised to reduce intradiscal pressure, allowing fluid to be reabsorbed into the disc, which could improve the internal stability and local chemical milieu of the disc, potentially reducing symptoms. OBJECTIVE: To investigate the immediate effects of prone press-up exercises on lumbar disc fluid content and movement. DESIGN: Quantification of MRI changes before and after a single exercise session...
November 21, 2017: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/29178008/trace-metal-contamination-in-the-glacierized-rio-santa-watershed-peru
#18
Alexandre Guittard, Michel Baraer, Jeffrey M McKenzie, Bryan G Mark, Oliver Wigmore, Alfonso Fernandez, Alejo C Rapre, Elizabeth Walsh, Jeffrey Bury, Mark Carey, Adam French, Kenneth R Young
The objective of this research is to characterize the variability of trace metals in the Rio Santa watershed based on synoptic sampling applied at a large scale. To that end, we propose a combination of methods based on the collection of water, suspended sediments, and riverbed sediments at different points of the watershed within a very limited period. Forty points within the Rio Santa watershed were sampled between June 21 and July 8, 2013. Forty water samples, 36 suspended sediments, and 34 riverbed sediments were analyzed for seven trace metals...
November 25, 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/29177427/synaptic-phosphorylated-%C3%AE-synuclein-in-dementia-with-lewy-bodies
#19
Martí Colom-Cadena, Jordi Pegueroles, Abigail G Herrmann, Christopher M Henstridge, Laia Muñoz, Marta Querol-Vilaseca, Carla San Martín-Paniello, Joan Luque-Cabecerans, Jordi Clarimon, Olivia Belbin, Raúl Núñez-Llaves, Rafael Blesa, Colin Smith, Chris-Anne McKenzie, Matthew P Frosch, Allyson Roe, Juan Fortea, Jordi Andilla, Pablo Loza-Alvarez, Ellen Gelpi, Bradley T Hyman, Tara L Spires-Jones, Alberto Lleó
Dementia with Lewy bodies is characterized by the accumulation of Lewy bodies and Lewy neurites in the CNS, both of which are composed mainly of aggregated α-synuclein phosphorylated at Ser129. Although phosphorylated α-synuclein is believed to exert toxic effects at the synapse in dementia with Lewy bodies and other α-synucleinopathies, direct evidence for the precise synaptic localization has been difficult to achieve due to the lack of adequate optical microscopic resolution to study human synapses. In the present study we applied array tomography, a microscopy technique that combines ultrathin sectioning of tissue with immunofluorescence allowing precise identification of small structures, to quantitatively investigate the synaptic phosphorylated α-synuclein pathology in dementia with Lewy bodies...
November 21, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29174432/primary-aldosteronism-making-sense-of-partial-data-sets-from-failed-adrenal-venous-sampling-suppression-of-adrenal-aldosterone-production-can-be-used-in-clinical-decision-making
#20
Veljko Strajina, Zahraa Al-Hilli, James C Andrews, Irina Bancos, Geoffrey B Thompson, David R Farley, Melanie L Lyden, Benzon M Dy, William F Young, Travis J McKenzie
BACKGROUND: It has been suggested that accurate clinical decisions may be made in patients with primary aldosteronism (PA) in the setting of failed cannulation of an adrenal vein, thereby utilizing only data from either right or left adrenal venous sampling (AVS) alone. METHODS: Retrospective analysis was performed for all patients with PA who underwent successful bilateral AVS. Adrenal vein/inferior vena cava index (AV/IVC index) was calculated by dividing aldosterone/cortisol ratio of the adrenal vein by aldosterone/cortisol ratio in the inferior vena cava, as described in a previously published study...
November 22, 2017: Surgery
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