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https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#1
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28430037/ethical-difficulties-in-the-innovative-surgical-treatment-of-patients-with-recurrent-glioblastoma-multiforme
#2
David J Cote, Naci Balak, Jannick Brennum, Daniel T Holsgrove, Neil Kitchen, Herbert Kolenda, Wouter A Moojen, Karl Schaller, Pierre A Robe, Tiit Mathiesen, Marike L Broekman
No abstract text is available yet for this article.
April 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28411337/protocols-for-the-obvious-where-does-it-start-and-stop
#3
EDITORIAL
Armand R J Girbes, Paul E Marik
Protocols can be helpful in specific situations and may have show benefits in clinical trials. So-called evidence based protocols and checklists frequently remind clinicians to do the obvious, but may also contain as part of a bundle, elements that are not based on the best current evidence. However, so called quality improvement programs frequently call for implementation of the total bundle. We think this is basically wrong and warn against that practice.
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28410780/analyzing-interactions-on-combining-multiple-clinical-guidelines
#4
Veruska Zamborlini, Marcos da Silveira, Cedric Pruski, Annette Ten Teije, Edwin Geleijn, Marike van der Leeden, Martijn Stuiver, Frank van Harmelen
Accounting for patients with multiple health conditions is a complex task that requires analysing potential interactions among recommendations meant to address each condition. Although some approaches have been proposed to address this issue, important features still require more investigation, such as (re)usability and scalability. To this end, this paper presents an approach that relies on reusable rules for detecting interactions among recommendations coming from various guidelines. It extends a previously proposed knowledge representation model (TMR) to enhance the detection of interactions and it provides a systematic analysis of relevant interactions in the context of multimorbidity...
April 11, 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28410308/glucocorticosteroids-as-adjunctive-therapy-for-acute-respiratory-distress-syndrome-and-sepsis-yes-but-not-as-monotherapy
#5
Paul E Marik
No abstract text is available yet for this article.
May 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#6
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van Ijcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28401901/missing-heritability-is-the-gap-closing-an-analysis-of-32-complex-traits-in-the-lifelines-cohort-study
#7
Ilja M Nolte, Peter J van der Most, Behrooz Z Alizadeh, Paul Iw de Bakker, H Marike Boezen, Marcel Bruinenberg, Lude Franke, Pim van der Harst, Gerjan Navis, Dirkje S Postma, Marianne G Rots, Ronald P Stolk, Morris A Swertz, Bruce Hr Wolffenbuttel, Cisca Wijmenga, Harold Snieder
Despite the recent explosive rise in number of genetic markers for complex disease traits identified in genome-wide association studies, there is still a large gap between the known heritability of these traits and the part explained by these markers. To gauge whether this 'heritability gap' is closing, we first identified genome-wide significant SNPs from the literature and performed replication analyses for 32 highly relevant traits from five broad disease areas in 13 436 subjects of the Lifelines Cohort...
April 12, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28393289/practically-delineating-bacterial-species-with-genealogical-concordance
#8
Stephanus N Venter, Marike Palmer, Chrizelle W Beukes, Wai-Yin Chan, Giyoon Shin, Elritha van Zyl, Tarren Seale, Teresa A Coutinho, Emma T Steenkamp
Bacterial species are commonly defined by applying a set of predetermined criteria, including DNA-DNA hybridization values, 16S rRNA gene sequence similarity, phenotypic data as well as genome-based criteria such as average nucleotide identity or digital DNA-DNA hybridization. These criteria mostly allow for the delimitation of taxa that resemble typical bacterial species. Their application is often complicated when the objective is to delineate new species that are characterized by significant population-level diversity or recent speciation...
April 9, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28387644/medical-necessity-of-routine-admission-of-children-with-mild-traumatic-brain-injury-to-the-intensive-care-unit
#9
Jared D Ament, Krista N Greenan, Patrick Tertulien, Joseph M Galante, Daniel K Nishijima, Marike Zwienenberg
OBJECTIVE Approximately 475,000 children are treated for traumatic brain injury (TBI) in the US each year; most are classified as mild TBI (Glasgow Coma Scale [GCS] Score 13-15). Patients with positive findings on head CT, defined as either intracranial hemorrhage or skull fracture, regardless of severity, are often transferred to tertiary care centers for intensive care unit (ICU) monitoring. This practice creates a significant burden on the health care system. The purpose of this investigation was to derive a clinical decision rule (CDR) to determine which children can safely avoid ICU care...
April 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28374096/the-intensive-care-medicine-research-agenda-in-nutrition-and-metabolism
#10
REVIEW
Yaseen M Arabi, Michael P Casaer, Marianne Chapman, Daren K Heyland, Carole Ichai, Paul E Marik, Robert G Martindale, Stephen A McClave, Jean-Charles Preiser, Jean Reignier, Todd W Rice, Greet Van den Berghe, Arthur R H van Zanten, Peter J M Weijs
PURPOSE: The objectives of this review are to summarize the current practices and major recent advances in critical care nutrition and metabolism, review common beliefs that have been contradicted by recent trials, highlight key remaining areas of uncertainty, and suggest recommendations for the top 10 studies/trials to be done in the next 10 years. METHODS: Recent literature was reviewed and developments and knowledge gaps were summarized. The panel identified candidate topics for future trials in critical care nutrition and metabolism...
April 3, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28350771/concurrent-validity-between-live-and-home-video-observations-using-the-alberta-infant-motor-scale
#11
Marike Boonzaaijer, Ellen van Dam, Ingrid C van Haastert, Jacqueline Nuysink
PURPOSE: Serial assessment of gross motor development of infants at risk is an established procedure in neonatal follow-up clinics. Assessments based on home video recordings could be a relevant addition. METHODS: In 48 infants (1.5-19 months), the concurrent validity of 2 applications was examined using the Alberta Infant Motor Scale: (1) a home video made by parents and (2) simultaneous observation on-site by a pediatric physical therapist. Parents' experiences were explored using a questionnaire...
April 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28350642/increased-early-systemic-inflammation-in-icu-acquired-weakness-a-prospective-observational-cohort-study
#12
Esther Witteveen, Luuk Wieske, Tom van der Poll, Marike van der Schaaf, Ivo N van Schaik, Marcus J Schultz, Camiel Verhamme, Janneke Horn
OBJECTIVES: To investigate whether patients who develop ICU-acquired weakness have a different pattern of systemic inflammatory markers compared with critically ill patients who do not develop ICU-acquired weakness. DESIGN: Prospective observational cohort study. SETTING: Mixed medical-surgical ICU of a tertiary care hospital in the Netherlands. PATIENTS: Newly admitted critically ill patients, greater than or equal to 48 hours on mechanical ventilation with a nonneurologic ICU admission diagnosis, were included...
March 27, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28347897/the-changing-healthcare-landscape-and-implications-of-organizational-ethics-on-modern-medical-practice
#13
REVIEW
Joseph P Castlen, David J Cote, Wouter A Moojen, Pierre A Robe, Naci Balak, Jannick Brennum, Mario Ammirati, Tiit Mathiesen, Marike L D Broekman
Medicine is rapidly changing, both in the level of collective medical knowledge and in how it is being delivered. The increased presence of administrators in hospitals helps to facilitate these changes and ease administrative workloads on physicians; however, tensions sometimes form between physicians and administrators. This is due to perceptions from both sides that physicians obstruct cost-saving measures and administrators put profits before patients. In reality, growing patient populations and changes in healthcare are necessitating action by hospitals to prevent excessive spending as healthcare systems become larger and more difficult to manage...
March 24, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28319014/human-biomonitoring-science-and-policy-for-a-healthy-future-april-17-19-2016-berlin-germany
#14
Anke Joas, Gerda Schwedler, Judy Choi, Marike Kolossa-Gehring
Following the success of the 1st International Conference on Human Biomonitoring (HBM) in Berlin in 2010, the 2nd International Conference on Human Biomonitoring took place in Berlin from April 17-19, 2016 for an exchange and updates among participants on all aspects relating to HBM. Entitled "Science and Policy for a Healthy Future", the conference brought together international experts from the scientific sector, politics, authorities, industry, non-governmental organizations (NGOs), and other involved associations...
March 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28301864/functional-recovery-in-patients-with-and-without-intensive-care-unit-acquired-weakness
#15
Daniela Susanne Dettling-Ihnenfeldt, Luuk Wieske, Janneke Horn, Frans Nollet, Marike van der Schaaf
OBJECTIVE: The aim of this work was to compare the patient-reported functional health status with regard to physical, psychological, and social functioning of intensive care unit (ICU) survivors with and without ICU-acquired weakness (ICU-AW). DESIGN: Single-center prospective study in ICU patients who were mechanically ventilated for more than 2 days and who survived to ICU discharge. Functional health status was assessed at 3, 6, and 12 months after ICU discharge, using the Sickness Impact Profile 68 (SIP68)...
April 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28291035/borderline-or-schizotypal-differential-psychodynamic-assessment-in-severe-personality-disorders
#16
Laura VAN Riel, Theo J M Ingenhoven, Quin D VAN Dam, Marike G Polak, Meinte G Vollema, Anne E Willems, Han Berghuis, Harold VAN Megen
Considerable overlap in symptoms between patients with borderline personality disorder (BPD) and schizotypal personality disorder (STPD) complicates personality diagnostics. Yet very little is known about the level of psychodynamic functioning of both personality disorders. Psychodynamic assessment procedures may specify personality characteristics relevant for differential diagnosis and treatment planning. In this cross-sectional study we explored the differences and similarities in level of personality functioning and psychodynamic features of patients with severe BPD or STPD...
March 2017: Journal of Psychiatric Practice
https://www.readbyqxmd.com/read/28287158/structural-reorganization-of-the-fungal-endoplasmic-reticulum-upon-induction-of-mycotoxin-biosynthesis
#17
Marike Johanne Boenisch, Karen Lisa Broz, Samuel Owen Purvine, William Byron Chrisler, Carrie Diana Nicora, Lanelle Reine Connolly, Michael Freitag, Scott Edward Baker, Harold Corby Kistler
Compartmentalization of metabolic pathways to particular organelles is a hallmark of eukaryotic cells. Knowledge of the development of organelles and attendant pathways under different metabolic states has been advanced by live cell imaging and organelle specific analysis. Nevertheless, relatively few studies have addressed the cellular localization of pathways for synthesis of fungal secondary metabolites, despite their importance as bioactive compounds with significance to medicine and agriculture. When triggered to produce sesquiterpene (trichothecene) mycotoxins, the endoplasmic reticulum (ER) of the phytopathogenic fungus Fusarium graminearum is reorganized both in vitro and in planta...
March 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28286969/involving-people-with-dementia-in-developing-an-interactive-web-tool-for-shared-decision-making-experiences-with-a-participatory-design-approach
#18
Marijke Span, Marike Hettinga, Leontine Groen-van de Ven, Jan Jukema, Ruud Janssen, Myrra Vernooij-Dassen, Jan Eefsting, Carolien Smits
PURPOSE: The aim of this study was at gaining insight into the participatory design approach of involving people with dementia in the development of the DecideGuide, an interactive web tool facilitating shared decision-making in their care networks. METHOD: An explanatory case study design was used when developing the DecideGuide. A secondary analysis focused on the data gathered from the participating people with dementia during the development stages: semi-structured interviews (n = 23), four focus group interviews (n = 18), usability tests (n = 3), and a field study (n = 4)...
March 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28284775/human-biomonitoring-as-a-tool-to-support-chemicals-regulation-in-the-european-union
#19
Catherine Ganzleben, Jean-Philippe Antignac, Robert Barouki, Argelia Castaño, Ulrike Fiddicke, Jana Klánová, Erik Lebret, Nicolas Olea, Dimosthenis Sarigiannis, Greet R Schoeters, Ovnair Sepai, Hanna Tolonen, Marike Kolossa-Gehring
No abstract text is available yet for this article.
March 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28279778/readmission-and-other-adverse-events-after-transsphenoidal-surgery-prevalence-timing-and-predictive-factors
#20
David J Cote, Hormuz H Dasenbrock, Ivo S Muskens, Marike Ld Broekman, Hasan A Zaidi, Ian F Dunn, Timothy R Smith, Edward R Laws
BACKGROUND: Transsphenoidal surgery is a common neurosurgical procedure for accessing the pituitary and anterior skull base, yet few multicenter analyses have evaluated outcomes after this procedure. STUDY DESIGN: Patients undergoing transsphenoidal surgery from 2006 to 2015 were extracted from the ACS NSQIP database. Logistic regression was used to identify predictors of thirty-day complications. RESULTS: Of 1240 patients included in this analysis; 6...
March 6, 2017: Journal of the American College of Surgeons
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