keyword
MENU ▼
Read by QxMD icon Read
search

G. Klein

keyword
https://www.readbyqxmd.com/read/28816424/cover-image-volume-173a-number-9-september-2017
#1
Paul Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, Gary T K Mok, Gordon K C Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N Ekure, Ogochukwu J Sokunbi, Nnenna Kalu, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Lisa M Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M Girisha, Siddaramappa J Patil, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo, Miguel Chávez Pastor, Hugo H Abarca-Barriga, Steven A Skinner, Eloise J Prijoles, Eben Badoe, Ashleigh D Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S Kisling, Carlos R Ferreira, Leon Mutesa, Andre Megarbane, Antonie D Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H Y Chung, Roger E Stevenson, Marshall Summar, Kausik Mandal, Shubha R Phadke, María G Obregon, Marius G Linguraru, Maximilian Muenke
The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#2
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28803557/altered-intrinsic-functional-connectivity-of-the-cingulate-cortex-in-children-with-severe-temper-outbursts
#3
Amy Krain Roy, Randi Bennett, Jonathan Posner, Leslie Hulvershorn, F Xavier Castellanos, Rachel G Klein
Severe temper outbursts (STO) in children are associated with impaired school and family functioning and may contribute to negative outcomes. These outbursts can be conceptualized as excessive frustration responses reflecting reduced emotion regulation capacity. The anterior cingulate cortex (ACC) has been implicated in negative affect as well as emotional control, and exhibits disrupted function in children with elevated irritability and outbursts. This study examined the intrinsic functional connectivity (iFC) of a region of the ACC, the anterior midcingulate cortex (aMCC), in 5- to 9-year-old children with STO (n = 20), comparing them to children with attention-deficit/hyperactivity disorder (ADHD) without outbursts (ADHD; n = 18)...
August 14, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28803079/development-and-psychometric-properties-of-a-survey-to-assess-barriers-to-implementing-advance-care-planning-in-primary-care
#4
Michelle Howard, Andrew G Day, Carrie Bernard, Amy Tan, John You, Doug Klein, Daren K Heyland
CONTEXT: Valid and reliable measurement of barriers to advance care planning (ACP) in health care settings can inform the design of robust interventions. OBJECTIVE: This paper describes the development and psychometric evaluation of an instrument to measure the presence and magnitude of perceived barriers to ACP discussion with patients from the perspective of family physicians. METHODS: A questionnaire was designed through literature review and expert input, asking family physicians to rate the importance of barriers (0=not at all a barrier, 6=an extreme amount) to ACP discussions with patients, and administered to 117 physicians...
August 9, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28800775/lack-of-high-bmi-related-features-in-adipocytes-and-inflammatory-cells-in-the-infrapatellar-fat-pad-ifp
#5
Anja J de Jong, Inge R Klein-Wieringa, Stefan N Andersen, Joanneke C Kwekkeboom, Linda Herb-van Toorn, Badelog J E de Lange-Brokaar, Danny van Delft, John Garcia, Wu Wei, Huub J L van der Heide, Yvonne M Bastiaansen-Jenniskens, Gerjo J V M van Osch, Annemarie M Zuurmond, Vedrana Stojanovic-Susulic, Rob G H H Nelissen, René E M Toes, Margreet Kloppenburg, Andreea Ioan-Facsinay
BACKGROUND: Obesity is associated with the development and progression of osteoarthritis (OA). Although the infrapatellar fat pad (IFP) could be involved in this association, due to its intracapsular localization in the knee joint, there is currently little known about the effect of obesity on the IFP. Therefore, we investigated cellular and molecular body mass index (BMI)-related features in the IFP of OA patients. METHODS: Patients with knee OA (N = 155, 68% women, mean age 65 years, mean (SD) BMI 29...
August 11, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28798898/dark-adapted-chromatic-perimetry-for-measuring-rod-visual-fields-in-patients-with-retinitis-pigmentosa
#6
Lea D Bennett, Martin Klein, Kirsten G Locke, Kelly Kiser, David G Birch
PURPOSE: Although rod photoreceptors are initially affected in retinitis pigmentosa (RP), the full-field of rod vision is not routinely characterized due to the unavailability of commercial devices detecting rod sensitivity. The purpose of this study was to quantify rod-mediated vision in the peripheral field from patients with RP using a new commercially available perimeter. METHODS: Participants had one eye dilated and dark-adapted for 45 minutes. A dark-adapted chromatic (DAC) perimeter tested 80 loci 144° horizontally and 72° vertically with cyan stimuli...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28797125/accuracy-and-reproducibility-of-mouse-cortical-bone-microporosity-as-quantified-by-desktop-microcomputed-tomography
#7
Haniyeh Hemmatian, Michaël R Laurent, Samaneh Ghazanfari, Dirk Vanderschueren, Astrid D Bakker, Jenneke Klein-Nulend, G Harry van Lenthe
Bone's microporosity plays important roles in bone biology and bone mechanical quality. In this study, we explored the accuracy and reproducibility of nondestructive desktop μCT for 3D visualization and subsequent morphometric analysis of mouse cortical bone microporosity including the vascular canal network and osteocyte lacunae. The accuracy of measurements was evaluated in five murine fibula using confocal laser scanning microscopy (CLSM) in conjunction with Fluorescein isothiocyanate (FITC) staining as the reference method...
2017: PloS One
https://www.readbyqxmd.com/read/28796738/measurement-bias-of-polyp-size-at-colonoscopy
#8
Shinichiro Sakata, Kerenaftali Klein, Andrew R L Stevenson, David G Hewett
BACKGROUND: The success of current and proposed strategies to reduce colorectal cancer (CRC) incidence and mortality rates are fundamentally based on measurement accuracy. OBJECTIVE: The aim of this study was to evaluate the densities of colorectal polyps individually measured at colonoscopy and whether measurement bias is a systemic phenomenon among colonoscopists. DESIGN: A population-wide, observational study. SETTING: All hospitals of the government-funded health system in Brisbane, Australia...
September 2017: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/28795399/new-pharmacogenomics-research-network-an-open-community-catalyzing-research-and-translation-in-precision-medicine
#9
M V Relling, R M Krauss, D M Roden, T E Klein, D M Fowler, N Terada, L Lin, M Riel-Mehan, T P Do, M Kubo, S W Yee, G T Johnson, K M Giacomini
The goal of pharmacogenomics research is to discover genetic polymorphisms that underlie variation in drug response. Increasingly, pharmacogenomics research involves large numbers of patients and the application of new technologies and methodologies to enable discovery. The Pharmacogenomics Research Network (PGRN) has become a community-driven network of investigators spanning scientific and clinical disciplines. Here, we highlight the activities and types of resources that enable PGRN members to enhance and drive basic and translational research in pharmacogenomics...
August 10, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28794261/neuroprotective-astrocyte-derived-insulin-igf-1-stimulate-endocytic-processing-and-extracellular-release-of-neuron-bound-a%C3%AE-oligomers
#10
Jason Pitt, Kyle C Wilcox, Vanessa Tortelli, Luan Pereira Diniz, Maira S Oliveira, Cassandra Dobbins, Xiao-Wen Yu, Sathwik Nandamuri, Flávia C A Gomes, Nadia DiNunno, Kirsten L Viola, Fernanda G De Felice, Sergio T Ferreira, William L Klein
Synaptopathy underlying memory deficits in Alzheimer's disease (AD) is increasingly thought to be instigated by toxic oligomers of the amyloid beta peptide (AβOs). Given the long latency and incomplete penetrance of AD dementia with respect to Aβ pathology, we hypothesized that factors present in the CNS may physiologically protect neurons from the deleterious impact of AβOs. Here we employed physically-separated neuron-astrocyte co-cultures to investigate potential non cell-autonomous neuroprotective factors influencing AβO toxicity...
August 9, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28776213/-standards-for-treatment-in-forensic-committment-according-to-%C3%A2-%C3%A2-63-and-%C3%A2-%C3%A2-64-of-the-german-criminal-code-interdisciplinary-task-force-of-the-dgppn
#11
REVIEW
J L Müller, N Saimeh, P Briken, S Eucker, K Hoffmann, M Koller, T Wolf, M Dudeck, C Hartl, A-K Jakovljevic, V Klein, G Knecht, R Müller-Isberner, J Muysers, K Schiltz, D Seifert, A Simon, H Steinböck, W Stuckmann, W Weissbeck, C Wiesemann, R Zeidler
People who have been convicted of a crime due to a severe mental disorder and continue to be dangerous as a result of this disorder may be placed in a forensic psychiatric facility for improvement and safeguarding according to § 63 and § 64 of the German Criminal Code (StGB). In Germany, approximately 9000 patients are treated in clinics for forensic psychiatry and psychotherapy on the basis of § 63 of the StGB and in withdrawal centers on the basis of § 64 StGB. The laws for treatment of patients in forensic commitment are passed by the individual States, with the result that even the basic conditions differ in the individual States...
August 3, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28775215/observation-of-coherent-elastic-neutrino-nucleus-scattering
#12
D Akimov, J B Albert, P An, C Awe, P S Barbeau, B Becker, V Belov, A Brown, A Bolozdynya, B Cabrera-Palmer, M Cervantes, J I Collar, R J Cooper, R L Cooper, C Cuesta, D J Dean, J A Detwiler, A Eberhardt, Y Efremenko, S R Elliott, E M Erkela, L Fabris, M Febbraro, N E Fields, W Fox, Z Fu, A Galindo-Uribarri, M P Green, M Hai, M R Heath, S Hedges, D Hornback, T W Hossbach, E B Iverson, L J Kaufman, S Ki, S R Klein, A Khromov, A Konovalov, M Kremer, A Kumpan, C Leadbetter, L Li, W Lu, K Mann, D M Markoff, K Miller, H Moreno, P E Mueller, J Newby, J L Orrell, C T Overman, D S Parno, S Penttila, G Perumpilly, H Ray, J Raybern, D Reyna, G C Rich, D Rimal, D Rudik, K Scholberg, B J Scholz, G Sinev, W M Snow, V Sosnovtsev, A Shakirov, S Suchyta, B Suh, R Tayloe, R T Thornton, I Tolstukhin, J Vanderwerp, R L Varner, C J Virtue, Z Wan, J Yoo, C-H Yu, A Zawada, J Zettlemoyer, A M Zderic
The coherent elastic scattering of neutrinos off nuclei has eluded detection for four decades, even though its predicted cross-section is the largest by far of all low-energy neutrino couplings. This mode of interaction provides new opportunities to study neutrino properties, and leads to a miniaturization of detector size, with potential technological applications. We observe this process at a 6.7-sigma confidence level, using a low-background, 14.6-kg CsI[Na] scintillator exposed to the neutrino emissions from the Spallation Neutron Source (SNS) at Oak Ridge National Laboratory...
August 3, 2017: Science
https://www.readbyqxmd.com/read/28771245/reactions-to-clinical-reinterpretation-of-a-gene-variant-by-participants-in-a-sequencing-study
#13
Jennifer M Taber, William M P Klein, Katie L Lewis, Jennifer J Johnston, Leslie G Biesecker, Barbara B Biesecker
PurposeAs genome science advances, people receiving personalized genetic information may receive reinterpretations of pathogenicity. Little is known about responses to adjusted results. We examined how reinterpretations might affect attitudes about genetic testing and intentions to share results with family.MethodsData were collected from high-socioeconomic-status participants (n = 58) in a genome sequencing study. Twenty-nine originally learned they were carriers of Duarte variant galactosemia, based on a variant that was reclassified as benign...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28770004/discovery-and-replication-of-snp-snp-interactions-for-quantitative-lipid-traits-in-over-60-000-individuals
#14
Emily R Holzinger, Shefali S Verma, Carrie B Moore, Molly Hall, Rishika De, Diane Gilbert-Diamond, Matthew B Lanktree, Nathan Pankratz, Antoinette Amuzu, Amber Burt, Caroline Dale, Scott Dudek, Clement E Furlong, Tom R Gaunt, Daniel Seung Kim, Helene Riess, Suthesh Sivapalaratnam, Vinicius Tragante, Erik P A van Iperen, Ariel Brautbar, David S Carrell, David R Crosslin, Gail P Jarvik, Helena Kuivaniemi, Iftikhar J Kullo, Eric B Larson, Laura J Rasmussen-Torvik, Gerard Tromp, Jens Baumert, Karen J Cruickshanks, Martin Farrall, Aroon D Hingorani, G K Hovingh, Marcus E Kleber, Barbara E Klein, Ronald Klein, Wolfgang Koenig, Leslie A Lange, Winfried Mӓrz, Kari E North, N Charlotte Onland-Moret, Alex P Reiner, Philippa J Talmud, Yvonne T van der Schouw, James G Wilson, Mika Kivimaki, Meena Kumari, Jason H Moore, Fotios Drenos, Folkert W Asselbergs, Brendan J Keating, Marylyn D Ritchie
BACKGROUND: The genetic etiology of human lipid quantitative traits is not fully elucidated, and interactions between variants may play a role. We performed a gene-centric interaction study for four different lipid traits: low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC), and triglycerides (TG). RESULTS: Our analysis consisted of a discovery phase using a merged dataset of five different cohorts (n = 12,853 to n = 16,849 depending on lipid phenotype) and a replication phase with ten independent cohorts totaling up to 36,938 additional samples...
2017: BioData Mining
https://www.readbyqxmd.com/read/28760465/elective-aortic-arch-repair-factors-influencing-neurologic-outcome-in-791-patients
#15
Mariano Cefarelli, Giacomo Murana, Giuseppina G Surace, Sebastiano Castrovinci, Giuliano Jafrancesco, Johannes Christiaan Kelder, Patrick Klein, Uday Sonker, Wim J Morshuis, Robin H Heijmen
BACKGROUND: The aim of this study was to determine perioperative factors influencing neurologic outcome in a single-center cohort of patients undergoing elective aortic arch operations. METHODS: From January 2005 to June 2015, 791 consecutive patients received open aortic arch operations with either antegrade selective cerebral perfusion (ASCP) (636 patients [80.4%]) or deep hypothermic circulatory arrest (DHCA) (155 patients [19.6%]). Main indications were degenerative aneurysm (85%) and chronic postdissection aneurysm (9...
July 28, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28756411/heterogeneous-contribution-of-microdeletions-in-the-development-of-common-generalised-and-focal-epilepsies
#16
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst, Mohammad R Toliat, Elmo Saarentaus, Daniel P Howrigan, Per Hoffman, Juan Francisco Miquel, Giancarlo V De Ferrari, Peter Nürnberg, Holger Lerche, Fritz Zimprich, Bern A Neubauer, Albert J Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G Weber, Dennis Lal
BACKGROUND: Microdeletions are known to confer risk to epilepsy, particularly at genomic rearrangement 'hotspot' loci. However, microdeletion burden not overlapping these regions or within different epilepsy subtypes has not been ascertained. OBJECTIVE: To decipher the role of microdeletions outside hotspots loci and risk assessment by epilepsy subtype. METHODS: We assessed the burden, frequency and genomic content of rare, large microdeletions found in a previously published cohort of 1366 patients with genetic generalised epilepsy (GGE) in addition to two sets of additional unpublished genome-wide microdeletions found in 281 patients with rolandic epilepsy (RE) and 807 patients with adult focal epilepsy (AFE), totalling 2454 cases...
July 29, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754796/a-prospective-study-of-chronic-inflammation-in-benign-prostate-tissue-and-risk-of-prostate-cancer-linked-pcpt-and-select-cohorts
#17
Elizabeth A Platz, Ibrahim Kulac, John R Barber, Charles G Drake, Corinne E Joshu, William G Nelson, M Scott Lucia, Eric A Klein, Scott M Lippman, Howard L Parnes, Ian M Thompson, Phyllis J Goodman, Catherine M Tangen, Angelo M De Marzo
BACKGROUND: We leveraged two trials to test the hypothesis of an inflammation-prostate cancer link prospectively in men without indication for biopsy. METHODS: Prostate Cancer Prevention Trial (PCPT) participants who had an end-of-study biopsy performed per protocol that was negative for cancer and who subsequently enrolled in the Selenium and Vitamin E Cancer Prevention Trial (SELECT) were eligible. We selected all 100 cases and sampled 200 frequency-matched controls and used PCPT end-of-study biopsies as "baseline"...
July 28, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28752622/response-to-nitrogen-addition-reveals-metabolic-and-ecological-strategies-of-soil-bacteria
#18
Md Sainur Samad, Charlotte Johns, Karl G Richards, Gary J Lanigan, Cecile A M de Klein, Timothy J Clough, Sergio E Morales
The nitrogen (N) cycle represents one of the most well studied systems yet the taxonomic diversity of the organisms that contribute to it is mostly unknown, or linked to poorly characterized microbial groups. While new information has allowed functional groups to be refined, they still rely on a priori knowledge of enzymes involved, and the assumption of functional conservation, with little connection to the role the transformations plays for specific organisms. Here, we use soil microcosms to test the impact of N deposition on prokaryotic communities...
July 28, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28751765/a-tlr7-agonist-enhances-the-antitumor-efficacy-of-obinutuzumab-in-murine-lymphoma-models-via-nk-cells-and-cd4-t-cells
#19
E J Cheadle, G Lipowska-Bhalla, S J Dovedi, E Fagnano, C Klein, J Honeychurch, T M Illidge
This corrects the article DOI: 10.1038/leu.2016.352.
July 28, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28748642/noonan-syndrome-in-diverse-populations
#20
Paul Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, Gary T K Mok, Gordon K C Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N Ekure, Ogochukwu J Sokunbi, Nnenna Kalu, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Lisa M Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M Girisha, Siddaramappa J Patil, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo, Miguel Chávez Pastor, Hugo H Abarca-Barriga, Steven A Skinner, Eloise J Prijoles, Eben Badoe, Ashleigh D Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S Kisling, Carlos R Ferreira, Leon Mutesa, Andre Megarbane, Antonie D Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H Y Chung, Roger E Stevenson, Marshall Summar, Kausik Mandal, Shubha R Phadke, María G Obregon, Marius G Linguraru, Maximilian Muenke
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%...
July 27, 2017: American Journal of Medical Genetics. Part A
keyword
keyword
94955
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"