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https://www.readbyqxmd.com/read/29159970/parental-education-accounts-for-variability-in-the-iqs-of-probands-with-down-syndrome-a-longitudinal-study
#1
David W Evans, Mirko Uljarević
Recent work has demonstrated that variability in probands' phenotypes, including physical features, cognitive abilities, social functioning, and other developmental domains, is influenced by parental traits. Here we examine the role of parental education as a factor contributing to the variability of intelligence quotient (IQ) of offspring with trisomy 21. Participants were 43 probands with trisomy 21, aged 4-21 years of age, and their parents. Data were collected on parental education, and a bi-parental mean education score (BMES) was calculated...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29158174/impact-of-cystectomy-with-urinary-diversion-upon-tracked-receipt-of-opioid-prescriptions-among-patients-with-interstitial-cystitis-bladder-pain-syndrome
#2
David S Koslov, Fernandino Vilson, Marc Colaco, Ryan P Terlecki, Robert J Evans
OBJECTIVES: To compare opioid requirements before and after cystectomy for end stage Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) using a statewide tracking system. METHODS: Narcotic prescriptions were captured using the North Carolina Controlled Substance Reporting System for patients at a single institute undergoing cystectomy with urinary diversion (CWUD) for refractory, end stage IC/BPS between 2010-2017. Values were documented for the year before and the year after surgery (excluding 30 days postoperatively to account for surgical pain) and converted to Morphine Equivalents (ME)...
November 17, 2017: Urology
https://www.readbyqxmd.com/read/29151894/-fast-cast-and-needle-tenotomy-protocols-with-the-ponseti-method-to-improve-clubfoot-management-in-bangladesh
#3
Angela Evans, Mamun Chowdhury, Sohel Rana, Shariar Rahman, Abu Hena Mahboob
Background: The management of congenital talipes equino varus (clubfoot deformity) has been transformed in the last 20 years as surgical correction has been replaced by the non-surgical Ponseti method. The Ponseti method, consists of corrective serial casting followed by maintenance bracing, and has been repeatedly demonstrated to give best results - regarded as the 'gold standard' treatment for paediatric clubfoot. Methods: To develop the study protocol Level 2 evidence was used to modify the corrective casting phase of the Ponseti method in children aged up to 12 months...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/29150856/defining-sepsis-on-the-wards-results-of-a-multi-centre-point-prevalence-study-comparing-two-sepsis-definitions
#4
T Szakmany, R Pugh, M Kopczynska, R M Lundin, B Sharif, P Morgan, G Ellis, J Abreu, S Kulikouskaya, K Bashir, L Galloway, H Al-Hassan, T Grother, P McNulty, S T Seal, A Cains, M Vreugdenhil, M Abdimalik, N Dennehey, G Evans, J Whitaker, E Beasant, C Hall, M Lazarou, C V Vanderpump, K Harding, L Duffy, A Guerrier Sadler, R Keeling, C Banks, S W Y Ng, S Y Heng, D Thomas, E W Puw, I Otahal, C Battle, O Minik, R A Lyons, J E Hall
Our aim was to prospectively determine the predictive capabilities of SEPSIS-1 and SEPSIS-3 definitions in the emergency departments and general wards. Patients with National Early Warning Score (NEWS) of 3 or above and suspected or proven infection were enrolled over a 24-h period in 13 Welsh hospitals. The primary outcome measure was mortality within 30 days. Out of the 5422 patients screened, 431 fulfilled inclusion criteria and 380 (88%) were recruited. Using the SEPSIS-1 definition, 212 patients had sepsis...
November 17, 2017: Anaesthesia
https://www.readbyqxmd.com/read/29136110/meta-connectomic-analysis-reveals-commonly-disrupted-functional-architectures-in-network-modules-and-connectors-across-brain-disorders
#5
Zhiqiang Sha, Mingrui Xia, Qixiang Lin, Miao Cao, Yanqing Tang, Ke Xu, Haiqing Song, Zhiqun Wang, Fei Wang, Peter T Fox, Alan C Evans, Yong He
Neuropsychiatric disorders are increasingly conceptualized as disconnection syndromes that are associated with abnormal network integrity in the brain. However, whether different neuropsychiatric disorders show commonly dysfunctional connectivity architectures in large-scale brain networks remains largely unknown. Here, we performed a meta-connectomic study to identify disorder-related functional modules and brain regions by combining meta-analyses of 182 published resting-state functional MRI studies in 11 neuropsychiatric disorders and graph-theoretical analyses of 3 independent resting-state functional MRI datasets with healthy and diseased populations (Alzheimer's disease and major depressive disorder [MDD])...
November 9, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29117797/obesity-and-metabolic-syndrome-in-copd-is-exercise-the-answer
#6
Benjamin D James, Amy V Jones, Ruth E Trethewey, Rachael A Evans
Approximately half of all patients with chronic obstructive pulmonary disease (COPD) attending pulmonary rehabilitation (PR) programmes are overweight or obese which negatively impacts upon dyspnoea and exercise tolerance particularly when walking. Within the obese population (without COPD), the observed heterogeneity in prognosis is in part explained by the variability in the risk of developing cardiovascular disease or diabetes (cardiometabolic risk) leading to the description of metabolic syndrome. In obesity alone, high-intensity aerobic training can support healthy weight loss and improve the constituent components of metabolic syndrome...
January 1, 2017: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/29114771/south-asian-adults-performance-on-executive-function-tests
#7
Veena Kallambettu, Angela N Burda, Nicole Wakeman
Purpose: This study compared the performance of South Asian and White adults on the Behavioural Assessment of the Dysexecutive Syndrome (BADS; Wilson, Alderman, Burgess, Emslie, & Evans, 1996) and the Functional Assessment of Verbal Reasoning and Executive Strategies (FAVRES; MacDonald, 2005), tests that can be used by speech-language pathologists to assess executive function (EF). Method: Twenty South Asian and 20 White participants were administered the BADS and FAVRES...
November 8, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29107672/lovastatin-inhibits-visceral-allodynia-and-increased-colonic-permeability-induced-by-lipopolysaccharide-or-repeated-water-avoidance-stress-in-rats
#8
Tsukasa Nozu, Saori Miyagishi, Shima Kumei, Rintaro Nozu, Kaoru Takakusaki, Toshikatsu Okumura
Statins have been reported to block inflammatory somatic pain and have an anti-cytokine property. Lipopolysaccharide (LPS) or repeated water avoidance stress (WAS) induces visceral hypersensitivity and increases gut permeability in rats, which are mediated through proinflammatory cytokine-dependent pathways. Since visceral hypersensitivity with increased gut permeability plays a crucial role in the pathophysiology of irritable bowel syndrome (IBS), these above animal models are considered to simulate IBS. We hypothesized that lovastatin improves symptoms in the patients with IBS by attenuating these visceral changes...
October 28, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29105469/-effect-of-electroacupuncture-stimulation-of-sensitized-acupoints-on-bowel-dysfunction-in-rats-with-diarrhea-predominant-irritable-bowel-syndrome
#9
Cheng-Cheng Lei, Liang Li, Hong Zhang, Jia Li, Qing Zhang, Shi-Qin Liu, Ye-Ye Tian, Hao Tian, Ling-Ling Yu
OBJECTIVE: To investigate the effect of electroacupuncture(EA)stimulation of sensitized acupoints on bowel dysfunction in diarrhea-predominant irritable bowel syndrome(D-IBS)rats. METHODS: Fifty SD rats were randomly divided into control, model, EA sensitized acupoint and EA non-sensitized acupoint groups, with 20 rats in the model group and 10 rats in each of the other 3 groups. The D-IBS model was established by chronic restraint stress and intragastric administration of folium sennae (0...
October 25, 2017: Zhen Ci Yan Jiu, Acupuncture Research
https://www.readbyqxmd.com/read/29101607/development-of-a-high-risk-pancreatic-screening-clinic-using-3-0%C3%A2-t-mri
#10
Chad A Barnes, Elizabeth Krzywda, Shannon Lahiff, Dena McDowell, Kathleen K Christians, Paul Knechtges, Parag Tolat, Mark Hohenwalter, Kulwinder Dua, Abdul H Khan, Douglas B Evans, Jennifer Geurts, Susan Tsai
Selective screening for pancreatic cancer (PC) has been proposed. We describe the establishment of a comprehensive multidisciplinary screening program using 3.0 T MRI. Criteria for screening included the presence of PC in: ≥ 2 first degree relatives (FDR), 1 FDR and 1 s degree relative (SDR), ≥ 3 any degree relatives (ADR), or any known hereditary cancer syndrome with increased PC risk. Imaging with 3.0 T MRI was performed routinely and endoscopic ultrasound was used selectively. Screening was completed in 75 patients (pts)...
November 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29098145/emerging-and-reemerging-diseases-in-the-world-health-organization-who-eastern-mediterranean-region-progress-challenges-and-who-initiatives
#11
REVIEW
Evans Buliva, Mohamed Elhakim, Nhu Nguyen Tran Minh, Amgad Elkholy, Peter Mala, Abdinasir Abubakar, Sk Md Mamunur Rahman Malik
The Eastern Mediterranean Region (EMR) of the World Health Organization (WHO) continues to be a hotspot for emerging and reemerging infectious diseases and the need to prevent, detect, and respond to any infectious diseases that pose a threat to global health security remains a priority. Many risk factors contribute in the emergence and rapid spread of epidemic diseases in the Region including acute and protracted humanitarian emergencies, resulting in fragile health systems, increased population mobility, rapid urbanization, climate change, weak surveillance and limited laboratory diagnostic capacity, and increased human-animal interaction...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/29093484/trisomy-21-causes-changes-in-the-circulating-proteome-indicative-of-chronic-autoinflammation
#12
Kelly D Sullivan, Donald Evans, Ahwan Pandey, Thomas H Hraha, Keith P Smith, Neil Markham, Angela L Rachubinski, Kristine Wolter-Warmerdam, Francis Hickey, Joaquin M Espinosa, Thomas Blumenthal
Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21 produces the different disease spectrum observed in people with DS are unknown. We recently identified an activated interferon response associated with T21 in human cells of different origins, consistent with overexpression of the four interferon receptors encoded on chromosome 21, and proposed that DS could be understood partially as an interferonopathy. However, the impact of T21 on systemic signaling cascades in living individuals with DS is undefined...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#13
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29089484/systematic-proteome-and-proteostasis-profiling-in-human-trisomy-21-fibroblast-cells
#14
Yansheng Liu, Christelle Borel, Li Li, Torsten Müller, Evan G Williams, Pierre-Luc Germain, Marija Buljan, Tatjana Sajic, Paul J Boersema, Wenguang Shao, Marco Faini, Giuseppe Testa, Andreas Beyer, Stylianos E Antonarakis, Ruedi Aebersold
Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals...
October 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/29088993/an-update-on-the-diagnosis-and-treatment-of-vestibular-schwannoma
#15
Jane Halliday, Scott A Rutherford, Martin G McCabe, Dafydd G Evans
Vestibular schwannomas (VS) account for approximately 85% of tumors in the cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are sporadic, with approximately 5% related to the tumor predisposition syndrome Neurofibromatosis Type 2 (NF2). The mainstays of management strategies are: observation, surgery, radiosurgery/radiotherapy and, for patients with NF2 and rapidly growing tumors or deteriorating neurologic function the targeted therapy bevacizumab. While morbidity and mortality rates related to treatment of VS have improved dramatically over the last decades, there are still significant improvements that could be made, in particular with regards to long-term facial nerve and hearing outcomes...
November 7, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29077507/multi-ethnic-meta-analysis-identifies-rai1-as-a-possible-obstructive-sleep-apnea-related-quantitative-trait-locus-in-men
#16
Han Chen, Brian E Cade, Kevin J Gleason, Andrew C Bjonnes, Adrienne M Stilp, Tamar Sofer, Matthew P Conomos, Sonia Ancoli-Israel, Raanan Arens, Ali Azarbarzin, Graeme I Bell, Jennifer E Below, Sung Chun, Daniel S Evans, Ralf Ewert, Alexis C Frazier-Wood, Sina A Gharib, José Haba-Rubio, Erika W Hagen, Raphael Heinzer, David R Hillman, W Craig Johnson, Zoltan Kutalik, Jacqueline M Lane, Emma K Larkin, Seung Ku Lee, Jingjing Liang, Jose S Loredo, Sutapa Mukherjee, Lyle J Palmer, George J Papanicolaou, Thomas Penzel, Paul E Peppard, Wendy S Post, Alberto R Ramos, Ken Rice, Jerome I Rotter, Scott A Sands, Neomi A Shah, Chol Shin, Katie L Stone, Beate Stubbe, Jae-Hoon Sul, Mehdi Tafti, Kent D Taylor, Alexander Teumer, Timothy A Thornton, Gregory J Tranah, Chaolong Wang, Heming Wang, Simon C Warby, D Andrew Wellman, Phyllis C Zee, Craig L Hanis, Cathy C Laurie, Daniel J Gottlieb, Sanjay R Patel, Xiaofeng Zhu, Shamil R Sunyaev, Richa Saxena, Xihong Lin, Susan Redline
Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups and a large proportion of the heritability remains unexplained. The apnea hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Since OSA differs by sex, and the pathophysiology of obstructive events differ in rapid eye movement (REM) and non-REM (NREM) sleep, we hypothesized that additional genetic association signals would be identified by analyzing the NREM/REM-specific AHI and by conducting sex-specific analyses in multi-ethnic samples...
October 27, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29074312/understanding-the-patient-experience-with-carcinoid-syndrome-exit-interviews-from-a-randomized-placebo-controlled-study-of-telotristat-ethyl
#17
Lowell Anthony, Claire Ervin, Pablo Lapuerta, Matthew H Kulke, Pamela Kunz, Emily Bergsland, Dieter Hörsch, David C Metz, Janice Pasieka, Nick Pavlakis, Marianne Pavel, Martyn Caplin, Kjell Öberg, John Ramage, Emily Evans, Qi Melissa Yang, Shanna Jackson, Karie Arnold, Linda Law, Dana B DiBenedetti
PURPOSE: Telotristat ethyl, an oral tryptophan hydroxylase inhibitor, is intended to treat carcinoid syndrome by reducing serotonin production. Telotristat ethyl was evaluated in TELESTAR, a Phase III study for patients who had carcinoid syndrome with at least 4 bowel movements (BMs) per day and who were receiving somatostatin analogue therapy. This interview substudy was conducted to provide insight into the patient experience in TELESTAR and to help understand whether reductions in BM frequency (the primary end point) and other symptoms were clinically meaningful...
October 23, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/29071338/prognostic-effect-and-longitudinal-hemodynamic-assessment-of-borderline-pulmonary-hypertension
#18
Tufik R Assad, Bradley A Maron, Ivan M Robbins, Meng Xu, Shi Huang, Frank E Harrell, Eric H Farber-Eger, Quinn S Wells, Gaurav Choudhary, Anna R Hemnes, Evan L Brittain
Importance: Pulmonary hypertension (PH) is diagnosed by a mean pulmonary arterial pressure (mPAP) value of at least 25 mm Hg during right heart catheterization (RHC). While several studies have demonstrated increased mortality in patients with mPAP less than that threshold, little is known about the natural history of borderline PH. Objective: To test the hypothesis that patients with borderline PH have decreased survival compared with patients with lower mPAP and frequently develop overt PH and to identify clinical correlates of borderline PH...
October 25, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29049981/angiotensin-receptor-blockade-improves-cardiac-mitochondrial-activity-in-response-to-an-acute-glucose-load-in-obese-insulin-resistant-rats
#19
Max Thorwald, Ruben Rodriguez, Andrew Lee, Bridget Martinez, Janos Peti-Peterdi, Daisuke Nakano, Akira Nishiyama, Rudy M Ortiz
Hyperglycemia increases the risk of oxidant overproduction in the heart through activation of a multitude of pathways. Oxidation of mitochondrial enzymes may impair their function resulting in accumulation of intermediates and reverse electron transfer, contributing to mitochondrial dysfunction. Furthermore, the renin-angiotensin system (RAS) becomes inappropriately activated during metabolic syndrome, increasing oxidant production. To combat excess oxidant production, the transcription factor, nuclear factor erythriod-2- related factor 2 (Nrf2), induces expression of many antioxidant genes...
October 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/29046738/colorectal-cancer-incidence-in-path_mlh1-carriers-subjected-to-different-follow-up-protocols-a-prospective-lynch-syndrome-database-report
#20
Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M Frayling, John-Paul Plazzer, Julian R Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller
BACKGROUND: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. METHODS: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence...
2017: Hereditary Cancer in Clinical Practice
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