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https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#1
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28812936/investigation-of-goldmann-perimetry-in-evaluation-of-patients-for-upper-eyelid-blepharoplasty
#2
John D Pemberton, Michael Salter, Aaron Fay, Bradley Thuro, Horace Spencer, Omar Dajani
PURPOSE: To determine if preoperative Goldmann Visual Field (GVF) testing in patients with functional dermatochalasis accurately depicts the postoperative superior visual field (SVF) outcome. METHODS: A prospective cohort study was done to compare preoperative and postoperative GVF field tests in patients undergoing upper eyelid blepharoplasty for treatment of dermatochalasis. This study was conducted in accordance with the Declaration of Helsinki and approved by the University of Arkansas for Medical Sciences institutional review board...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812922/a-circulating-micro-rna-signature-serves-as-a-diagnostic-and-prognostic-indicator-in-sarcoidosis
#3
Christian Ascoli, Yue Huang, Cody Schott, Benjamin A Turturice, Ahmed Metwally, David L Perkins, Patricia W Finn
Micro-RNAs (miRNAs) act as post-transcriptional regulators of gene expression. In sarcoidosis, aberrant miRNA expression may enhance immune responses mounted against an unknown antigenic agent. We tested whether a distinct miRNA signature functions as a diagnostic biomarker and explored its role as an immune modulator in sarcoidosis. Expression of miRNAs from peripheral blood mononuclear cells from subjects that met clinical and histopathologic criteria for sarcoidosis were compared to those from matched controls in the ACCESS study...
August 16, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28812915/kardiovize-brno-2030-a-prospective-cardiovascular-health-study-in-central-europe-methods-baseline-findings-and-future-directions
#4
Narine K Movsisyan, Manlio Vinciguerra, Francisco Lopez-Jimenez, Šárka Kunzová, Martin Homolka, Jana Jaresova, Renata Cífková, Ondřej Sochor
Background Atherosclerotic cardiovascular disease is highly prevalent in Eastern and Central Europe, where the incidence is the highest in the world. The Kardiovize Brno 2030 study was designed as a prospective cohort study to investigate the complex relationships of cardiovascular disease and outcomes with a range of biological, psychosocial, environmental, behavioral, and economic factors in an urban population of the Czech Republic. Methods We randomly selected a 1% sample of the city of Brno residents aged 25-64 years stratified by sex and age...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28812598/breast-cancer-10-year-follow-up-of-the-team-cohort-reported
#5
Peter Sidaway
No abstract text is available yet for this article.
August 16, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28812455/prognostic-factors-for-change-in-self-reported-anxiety-and-depression-in-spondyloarthritis-patients-data-from-the-population-based-spascania-cohort-from-southern-sweden
#6
Jjl Meesters, S Bergman, E Haglund, Lth Jacobsson, I F Petersson, A Bremander
OBJECTIVES: Anxiety and depression symptoms are more common in patients with spondyloarthritis (SpA) than in the general population. This study describes prognostic factors for change in self-reported anxiety and depression over 2 years in a well-defined SpA cohort. METHOD: In 2009, 3716 adult patients from the SpAScania cohort received a postal questionnaire to assess quality of life (QoL) and physical and mental functioning. A follow-up survey was performed in 2011...
August 16, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28812454/risk-factors-for-intrapartum-acidemia-a-cohort-study
#7
Stina Wretler, Lennart Nordström, Sophie Graner, Malin Holzmann
PURPOSE: Birth acidemia is associated with short- and long-term morbidity in the child. Optimal intrapartum surveillance and timely interventions may reduce the incidence of these outcomes. Knowledge about conditions which increase the risks might be beneficial for optimal care. The aim with this study was to identify factors which increased the risk for lactacidemia in fetal scalp blood. MATERIALS AND METHODS: A secondary analysis of a cohort study performed at Karolinska University Hospital Stockholm Sweden between February 2009 and February 2011...
August 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28812439/evaluating-disease-prediction-models-using-a-cohort-whose-covariate-distribution-differs-from-that-of-the-target-population
#8
Scott Powers, Valerie McGuire, Leslie Bernstein, Alison J Canchola, Alice S Whittemore
Personal predictive models for disease development play important roles in chronic disease prevention. The performance of these models is evaluated by applying them to the baseline covariates of participants in external cohort studies, with model predictions compared to subjects' subsequent disease incidence. However, the covariate distribution among participants in a validation cohort may differ from that of the population for which the model will be used. Since estimates of predictive model performance depend on the distribution of covariates among the subjects to which it is applied, such differences can cause misleading estimates of model performance in the target population...
January 1, 2017: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/28812407/scaling-the-punctum-and-canaliculus-in-patients-undergoing-punctoplasty-surgery-a-prospective-cohort-study
#9
Nisha Nesaratnam, Krisztina Emeriewen, Julie Smith, Beena David, James Wawrzynski, Anant Sharma, George M Saleh
Optical Coherence Tomography (OCT) is a safe and non-invasive method of high-resolution cross-sectional imaging of tissue microstructures using infrared radiation. This study investigates how the appearance of the punctum and proximal canaliculus differs pre- and post-operatively in patients undergoing punctoplasty surgery. Patients with symptomatic punctal stenosis warranting punctoplasty surgery were prospectively invited to enrol from a single centre. Spectral OCT images of the lower punctae were captured with a Topcon 3D OCT 2000 machine pre- and post-operatively (at their follow-up appointment)...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812328/prognostic-significance-of-daxx-ncr-nuclear-cytoplasmic-ratio-in-gastric-cancer
#10
Jian-Feng Xu, Zhi-Guang Zhao, Le-le Ye, Weishan Zhuge, Zheng Han, Te-Ming Zhang, Si-Si Ye, Wen-Jing Chen, Shanli Zhu, Li Shi, Jun Zhang, Ai-Zhen Guo, Xiang-Yang Xue, Xian Shen
In addition to regulating apoptosis via its interaction with the death domain of Fas receptor, death domain associated protein 6 (Daxx) is also known to be involved in transcriptional regulation, suggesting that the function of Daxx depends on its subcellular localization. In this study, we aimed to explore Daxx subcellular localization in gastric cancer (GC) cells and correlate the findings with clinical data in GC patients. Seventy pairs of tissue samples (GC and adjacent normal tissue) were analyzed immunohistochemically for Daxx expression and localization (nuclear and cytoplasmic)...
August 15, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28812323/a-comparison-of-methods-for-estimating-the-temporal-change-in-a-continuous-variable-example-of-hba1c-in-patients-with-diabetes
#11
Therese Sheppard, Robyn Tamblyn, Michal Abrahamowicz, Mark Lunt, Matthew Sperrin, William G Dixon
PURPOSE: To compare the more complex technique, functional principal component analysis (FPCA), to simpler methods of estimating values of sparse and irregularly spaced continuous variables at given time points in longitudinal data using a diabetic patient cohort from UK primary care. METHODS: The setting for this study is the Clinical Practice Research Datalink (CPRD), a UK general practice research database. For 16,034 diabetic patients identified in CPRD, with at least 2 measures in a 30-month period, HbA1c was estimated after temporarily omitting (i) the final and (ii) middle known values using linear interpolation, simple linear regression, arithmetic mean, random effects, and FPCA...
August 15, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28812321/prognostic-impact-of-intensive-statin-therapy-on-n-terminal-pro-bnp-level-in-non-st-segment-elevation-acute-myocardial-infarction-patients
#12
Mohamed Shehata, Ayman Samir, May Dardiri
OBJECTIVE: This study explored the impact of intensive daily dosing of atorvastatin on in-hospital N-terminal pro-B-type natriuretic peptide level, left ventricular systolic function and incidence of major adverse cardiac events in non-ST-segment elevation myocardial infarction patients. BACKGROUND: Several studies showed that early initiation of statin therapy in acute coronary syndrome patients has a favorable prognostic impact. METHODS: Hundred statin naive patients were prospectively enrolled...
August 15, 2017: Journal of Interventional Cardiology
https://www.readbyqxmd.com/read/28812249/long-term-disability-and-progression-in-spinal-onset-multiple-sclerosis
#13
Bedile Irem Tiftikcioglu, Irem Ilgezdi, Yasar Zorlu, Ufuk Sener, Figen Tokucoglu
The aim of this study is to investigate the long-term effects of the initial spinal cord (SC) involvement in MS patients. In this retrospective, single-center study, 824 patients with definite MS were screened. A total of 348 patients were excluded for ambiguous documentation of the initial relapse, pediatric onset, diagnosis of primary progressive disease, irregular assessments or visits causing doubt on the onset of progression time, and clinical follow-up duration less than 12 months. Eventually, 476 MS patients were included...
August 10, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28812241/plasma-glycoproteomic-study-of-therapeutic-hypothermia-reveals-novel-markers-predicting-neurologic-outcome-post-cardiac-arrest
#14
Wenjun Deng, Jing Cao, Lei Chen, David McMullin, James L Januzzi, Ferdinando S Buonanno, Eng H Lo, MingMing Ning
Therapeutic hypothermia (TH) is a neuroprotective treatment post-cardiac arrest but is grossly underutilized. After TH induction, traditional biomarkers and parameters can no long predict clinical outcome due to a lack of understanding of hypothermic response. Innovative approaches to better understand the clinical effect of TH will help to prognosticate outcome and expand beneficial population. Protein glycosylation is an important extracellular post-translational modification, regulating various extracellular signaling pathways...
August 15, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/28812224/risk-factors-for-totally-implantable-venous-access-device-associated-complications-in-cystic-fibrosis
#15
C McCarthy, O O'Carroll, M E O'Brien, T McEnery, A Franciosi, C Gunaratnam, N G McElvaney
BACKGROUND: Candidaemia is an important nosocomial infection, seen frequently in immunocompromised and critically ill patients and increasingly recognised in cystic fibrosis (CF) patients with totally implantable venous access devices (TIVADs). This study aims to investigate the incidence and risk factors for the development of TIVAD-associated candidaemia and to assess the rate of TIVAD-related complications in CF patients. METHODS: A 10-year retrospective study was carried out on adult CF patients attending a single centre...
August 15, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28812207/the-vaginal-microbiome-and-its-potential-to-impact-efficacy-of-hiv-pre-exposure-prophylaxis-for-women
#16
REVIEW
Jennifer Velloza, Renee Heffron
PURPOSE OF REVIEW: This review describes existing evidence addressing the potential modulation of pre-exposure prophylaxis (PrEP) products, specifically 1% tenofovir (TFV) gel and oral tenofovir-based PrEP, by vaginal dysbiosis and discusses future considerations for delivering novel, long-acting PrEP products to women at high risk for vaginal dysbiosis and HIV. RECENT FINDINGS: We describe results from analyses investigating the modification of PrEP efficacy by vaginal dysbiosis and studies of biological mechanisms that could render PrEP ineffective in the presence of specific microbiota...
August 15, 2017: Current HIV/AIDS Reports
https://www.readbyqxmd.com/read/28812206/differences-in-femoral-neck-structure-between-elderly-caucasian-and-chinese-populations-a-cross-sectional-study-of-perth-beijing-cohorts
#17
L Wang, B C C Khoo, X G Cheng, K Brown, J R Lewis, Y B Su, Z Guo, K Li, R L Prince
Structural skeletal differences of the femoral neck of older Beijing-Chinese and Perth-Caucasian women were compared; adjusting for frame size-related differences, Beijing-Chinese have lower periosteal width; however, indices of internal bone distribution suggest that Beijing-Chinese may exhibit increased resistance to fracture that may relate to the reduced hip fracture incidence. INTRODUCTION: Ethnic differences in skeletal structure may relate to differences in hip fracture risk in Chinese and Caucasian populations...
August 15, 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28812203/assessment-of-methodologies-to-calculate-intraventricular-pressure-differences-in-computational-models-and-patients
#18
Francisco J Londono-Hoyos, Abigail Swillens, Joris Van Cauwenberge, Brett Meyers, Maheswara Reddy Koppula, Pavlos Vlachos, Julio A Chirinos, Patrick Segers
Intraventricular pressure differences (IVPDs) govern left ventricular (LV) efficient filling and are a significant determinant of LV diastolic function. Our primary aim is to assess the performance of available methods (color M-mode (CMM) and 1D/2D MRI-based methods) to determine IVPDs from intracardiac flow measurements. Performance of three methods to calculate IVPDs was first investigated via an LV computational fluid dynamics (CFD) model. CFD velocity data were derived along a modifiable scan line, mimicking ultrasound/MRI acquisition of 1D (IVPDCMM/IVPD1D MRI) and 2D (IVPD2D MRI) velocity-based IVPD information...
August 16, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28812193/cost-analysis-of-robot-assisted-choledochotomy-and-common-bile-duct-exploration-as-an-option-for-complex-choledocholithiasis
#19
Ahmed Almamar, Nawar A Alkhamesi, Ward T Davies, Christopher M Schlachta
AIM: The aim of this study is to evaluate the clinical outcomes and cost-effectiveness of elective, robot-assisted choledochotomy and common bile duct exploration (RCD/CBDE) compared to open surgery for ERCP refractory choledocholithiasis. METHOD: A prospective database of all RCD/CBDE has been maintained since our first procedure in April 2007 though April 2016. With ethics approval, this database was compared with all contemporaneous elective open procedures (OCD/CBDE) performed since March 2005...
August 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28812189/nutrient-intake-of-swiss-toddlers
#20
Thomas A Brunner, Luca Casetti, Petra Haueter, Pascal Müller, Andreas Nydegger, Johannes Spalinger
PURPOSE: During the first years of life, food preferences are shaped that might last throughout a person's entire life affecting his/her health in the long term. However, knowledge on early feeding habits is still limited for toddlers. Therefore, the goal of the present study was to: (1) assess toddlers' nutrient intake; (2) compare the findings to past studies as well as to national feeding recommendations and (3) identify major food sources for energy and macronutrients. METHODS: A food survey using a 4-day diary was conducted...
August 10, 2017: European Journal of Nutrition
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