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https://www.readbyqxmd.com/read/29334134/a-comprehensive-next-generation-sequencing-assay-for-the-diagnosis-of-epidermolysis-bullosa
#1
Anne W Lucky, Neha Dagaonkar, Karen Lammers, Ammar Husami, Diane Kissell, Kejian Zhang
BACKGROUND: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. METHODS: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29333819/hashimoto-s-disease-in-a-cohort-of-29-children-and-adolescents-epidemiology-clinical-course-and-comorbidities-in-the-short-and-long-term
#2
Eliot Gómez López, Ana P Nso-Roca, Mercedes Juste Ruiz, Ernesto Cortés Castell
Hashimoto's thyroiditis is the most common cause of goiter and hypothyroidism among children and adolescents. Its clinical manifestations and course vary. The objective of this study was to review the clinical and evolutionary characteristics of Hashimoto's disease in the pediatric population. Clinical, analytical, ultrasound, epidemiological, and evolutionary data of patients with autoimmune thyroiditis seen at Hospital Universitario San Juan de Alicante between January 2010 and January 2016 were analyzed...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333818/community-acquired-methicillin-resistant-staphylococcus-aureus-infections-hospitalization-and-case-fatality-risk-in-10-pediatric-facilities-in-argentina
#3
Ángela Gentile, Julia Bakir, Gabriela Ensinck, Aldo Cancellara, Enrique V Casanueva, Verónica Firpo, Martín Caruso, María F Lución, Alejandro Santillán Iturres, Fabiana Molina, Héctor J Abate, Andrea Gajo Gane, Santiago López Papucci
INTRODUCTION: Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infections are prevalent both in Argentina and worldwide, and they may have a severe clinical course. OBJECTIVES: To estimate the hospitalization rate and case fatality risk factors of CA-MRSA infection. METHODS: Cross-sectional, analytical study. All patients < 15 years old with community-acquired Staphylococcus aureus (CA-SA) infections admitted to 10 pediatric facilities between January 2012 and December 2014 were included...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333493/a-quality-improvement-project-aimed-at-adapting-primary-care-to-ensure-the-delivery-of-evidence-based-psychotherapy-for-adult-anxiety
#4
Mark D Williams, Craig N Sawchuk, Nathan D Shippee, Kristin J Somers, Summer L Berg, Jay D Mitchell, Angela B Mattson, David J Katzelnick
Primary care patients frequently present with anxiety with prevalence ratios up to 30%. Brief cognitive-behavioural therapy (CBT) has been shown in meta-analytic studies to have a strong effect size in the treatment of anxiety. However, in surveys of anxious primary care patients, nearly 80% indicated that they had not received CBT. In 2010, a model of CBT (Coordinated Anxiety Learning and Management (CALM)) adapted to primary care for adult anxiety was published based on results of a randomised controlled trial...
2018: BMJ Open Quality
https://www.readbyqxmd.com/read/29333486/ethical-considerations-when-delivering-behavior-analytic-services-for-problem-behavior-via-telehealth
#5
Patrick W Romani, Kelly M Schieltz
Delivery of healthcare services via telehealth has been growing in popularity, and work completed by behavior analytic researchers and practitioners have supported this trend. Behavior analysts at the University of Iowa Children's Hospital (UICH) developed a telehealth model of service delivery to build upon their already established in-clinic and in-home services. Results from their telehealth studies showed positive effects. Social functions were identified for most children, and problem behavior decreased by an average of 94...
November 2017: Behavior Analysis (Washington, D.C.)
https://www.readbyqxmd.com/read/29333144/did-creatinine-standardization-give-benefits-to-the-evaluation-of-glomerular-filtration-rate
#6
Laurence Piéroni, Anne-Sophie Bargnoux, Jean-Paul Cristol, Etienne Cavalier, Pierre Delanaye
During the last decade, a lot of efforts has been made to improve the evaluation of renal functions. Measured Glomerular Filtration Rate (GFR) remains the only valuable test to confirm or confute the status of chronic kidney disease (CKD) and is recommended by Kidney Disease Global Outcomes guidelines when estimation of GFR is not reliable. However, in routine clinical practice, serum creatinine remains the one of the most prescribed biological parameters and is an undeniable factor, alone or in association with other parameters, of the estimation of GFR...
December 2017: EJIFCC
https://www.readbyqxmd.com/read/29332974/the-management-of-post-analytical-correction-factors
#7
Roger Barton, Mark Mackay, Graham Rd Jones, Tony Badrick
Clinical laboratories may systematically apply factors to assay results after analysis, but before reporting, in order to facilitate comparison of data from different methods. This may be done to align with other patient results, reference intervals or clinical decision points. These factors, which we term Post Analytical Correction Factors (PACF), may be applied to all types of results derived from the method, i.e. quality control (QC) and external quality assurance (EQA), as well as the patient results. As the principal use of PACF is comparing patient results, it is important that the laboratory use commutable materials (i...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29332810/sensitive-fluorescence-sensing-of-t4-polynucleotide-kinase-activity-and-inhibition-based-on-dna-polydopamine-nanospheres-platform
#8
Yao Cen, Wen-Jing Deng, Ru-Qin Yu, Xia Chu
5'-Polynucleotide kinase (PNK) is a crucial enzyme that catalyzes the phosphorylation of nucleic acid with 5'-OH termini and this phosphorylation reaction has been involved in many important cellular activities. The evaluation of PNK activity has received an increasing attention due to the significance of PNK. Here, the polydopamine nanospheres (PDANS) could adsorb single-stranded DNA (ssDNA) through π-π stacking or hydrogen bonding between nucleobases and aromatic groups of PDANS, while the interaction between double-stranded DNA (dsDNA) with PDANS was weakened due to the changed conformation...
April 1, 2018: Talanta
https://www.readbyqxmd.com/read/29332802/total-%C3%AE-1-acid-glycoprotein-determination-in-serum-samples-using-disposable-screen-printed-electrodes-and-osmium-vi-as-electrochemical-tag
#9
Tania Sierra, María Cristina González, Begoña Moreno, Agustin G Crevillen, Alberto Escarpa
Alpha-1-acid glycoprotein (AGP) or Orosomucoid is a serum glycoprotein which belongs to the group of acute phase proteins. It is a potential biomarker for inflammatory bowel diseases. In this sense, there is a need for developing fast and cheap analytical methods for diagnosis, prognosis and follow-up of these diseases. In this work, we propose a simple and cheap electrochemical method for total AGP determination using disposable carbon screen-printed electrodes (SPE) and using a selective acidic precipitation of the rest of proteins...
April 1, 2018: Talanta
https://www.readbyqxmd.com/read/29332764/pelvic-musculoskeletal-dysfunctions-in-women-with-and-without-chronic-pelvic-pain
#10
Najmeh Sedighimehr, Farideh Dehghan Manshadi, Nasim Shokouhi, Alireza Akbarzadeh Baghban
AIM: This study aimed to compare the prevalence of pelvic musculoskeletal dysfunctions in women with and without Chronic Pelvic Pain (CPP). MATERIALS &METHODS: A total of 84 women with and without CPP (42 in each group), participated in this cross-sectional analytical study. After collecting demographic information, clinical examinations were carried out to compare pelvic musculoskeletal dysfunctions between two groups. Kolmogorov-Smirnov (K-S) goodness-of-fit, Independent t, X2 and Pearson correlation tests were used for data analysis...
January 2018: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29332639/genetic-and-environmental-influences-to-low-back-pain-and-symptoms-of-depression-and-anxiety-a-population-based-twin-study
#11
Marina B Pinheiro, Jose J Morosoli, Lucía Colodro-Conde, Paulo H Ferreira, Juan R Ordoñana
BACKGROUND: People suffering from chronic pain are more likely to experience symptoms of depression and anxiety. However, the mechanisms underlying this relationship remain largely unknown. In light of the moderate to large effects of genetic factors on chronic pain and depression and anxiety, we aimed to estimate the relative contribution of genetic and environmental factors to the relationship between these traits. METHODS: Using data from 2139 participants in the Murcia Twin Registry, we employed a bivariate analysis and structural equation modeling to estimate the relative influences of genetics and the environment on the covariation between low back pain and symptoms of depression and anxiety...
February 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29332013/patterns-and-predictors-of-disclosure-of-hiv-positive-status-among-youth-living-with-hiv-in-ibadan-nigeria
#12
Adesola Olumide, Eme Owoaje
Background Information on disclosure of HIV status among youth is sparse in spite of the fact that they bear a significant burden of the HIV epidemic. Our objective was to determine the predictors of HIV disclosure among youth aged 18-35 years in Ibadan, Nigeria. Methods A cross-sectional study was conducted among youth with HIV attending two HIV support groups and one ARV clinic in Ibadan, Nigeria. Information was obtained with the aid of an interviewer-administered questionnaire. Descriptive and analytic statistics were conducted...
January 15, 2018: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/29331859/development-of-a-method-to-determine-axitinib-lapatinib-and-afatinib-in-plasma-by-micellar-liquid-chromatography-and-validation-by-the-european-medicines-agency-guidelines
#13
Jaume Albiol-Chiva, Josep Esteve-Romero, Juan Peris-Vicente
A method based on micellar liquid chromatography to quantify the tyrosine kinase inhibitors axitinib, lapatinib and afatinib in plasma is reported. The sample pretreatment was a simple 1/5-dilution in a pure micellar solution, filtration and direct injection, without requiring extraction or purification steps. The three drugs were resolved from the matrix in 17min, using an aqueous solution of 0.07M sodium dodecyl sulfate - 6.0% 1-pentanol, buffered at pH7 with 0.01M phosphate salt as mobile phase, running under isocratic mode at 1mL/min through a C18 column...
January 2, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29331721/understanding-protein-drug-interactions-using-ion-mobility-mass-spectrometry
#14
REVIEW
Claire E Eyers, Matthias Vonderach, Samantha Ferries, Kiani Jeacock, Patrick A Eyers
Ion mobility-mass spectrometry (IM-MS) is an important addition to the analytical toolbox for the structural evaluation of proteins, and is enhancing many areas of biophysical analysis. Disease-associated proteins, including enzymes such as protein kinases, transcription factors exemplified by p53, and intrinsically disordered proteins, including those prone to aggregation, are all amenable to structural analysis by IM-MS. In this review we discuss how this powerful technique can be used to understand protein conformational dynamics and aggregation pathways, and in particular, the effect that small molecules, including clinically-relevant drugs, play in these processes...
January 10, 2018: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/29331453/are-privacy-enhancing-technologies-for-genomic-data-ready-for-the-clinic-a-survey-of-medical-experts-of-the-swiss-hiv-cohort-study
#15
Jean-Louis Raisaro, Paul J McLaren, Jacques Fellay, Matthias Cavassini, Catherine Klersy, Jean-Pierre Hubaux
PURPOSE: Protecting patient privacy is a major obstacle for the implementation of genomic-based medicine. Emerging privacy-enhancing technologies can become key enablers for managing sensitive genetic data. We studied physicians' attitude toward this kind of technology in order to derive insights that might foster their future adoption for clinical care. METHODS: We conducted a questionnaire-based survey among 55 physicians of the Swiss HIV Cohort Study who tested the first implementation of a privacy-preserving model for delivering genomic test results...
January 10, 2018: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29331425/low-picomolar-label-free-procalcitonin-analytical-detection-with-an-electrolyte-gated-organic-field-effect-transistor-based-electronic-immunosensor
#16
Preethi Seshadri, Kyriaki Manoli, Nicole Schneiderhan-Marra, Uwe Anthes, Piotr Wierzchowiec, Klaus Bonrad, Cinzia Di Franco, Luisa Torsi
Herein a label-free immunosensor based on electrolyte-gated organic field-effect transistor (EGOFET) was developed for the detection of procalcitonin (PCT), a sepsis marker. Antibodies specific to PCT were immobilized on the poly-3-hexylthiophene (P3HT) organic semiconductor surface through direct physical adsorption followed by a post-treatment with bovine serum albumin (BSA) which served as the blocking agent to prevent non-specific adsorption. Antibodies together with BSA (forming the whole biorecognition layer) served to selectively capture the procalcitonin target analyte...
December 26, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29331315/ethnobotany-phytochemistry-and-pharmacology-of-arctotis-arctotoides-l-f-o-hoffm-a-review
#17
REVIEW
Md Moshfekus Saleh-E-In, Johannes Van Staden
ETHNOPHARMACOLOGICAL RELEVANCE: Arctotis arctotoides (Asteraceae) is part of the genus Arctotis. Arctotis is an African genus of approximately 70 species that occur widely in the African continent with diverse medicinal values. This plant is used for the treatment of indigestion and catarrh of the stomach, epilepsy, topical wounds and skin disorders among the ethnic groups in South Africa and reported to have a wide spectrum of pharmacological properties. AIM OF THE REVIEW: The aim of the present review is to appraise the botany, traditional uses, phytochemistry, pharmacological potential, analytical methods and safety issues of A...
January 10, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29330776/second-hand-exposure-of-staff-administering-vaporised-cannabinoid-products-to-patients-in-a-hospital-setting
#18
Nadia Solowij, Peter Galettis, Samantha J Broyd, Peter de Krey, Jennifer H Martin
BACKGROUND: In many health settings, administration of medicinal cannabis poses significant implementation barriers including drug storage and safety for administering staff and surrounding patients. Different modes of administration also provide different yet potentially significant issues. One route that has become of clinical interest owing to the rapid onset of action and patient control of the inhaled amount (via breath timing and depth) is that of vaporisation of cannabinoid products...
January 12, 2018: Drugs in R&D
https://www.readbyqxmd.com/read/29330365/engineered-nanointerfaces-for-microfluidic-isolation-and-molecular-profiling-of-tumor-specific-extracellular-vesicles
#19
Eduardo Reátegui, Kristan E van der Vos, Charles P Lai, Mahnaz Zeinali, Nadia A Atai, Berent Aldikacti, Frederick P Floyd, Aimal H Khankhel, Vishal Thapar, Fred H Hochberg, Lecia V Sequist, Brian V Nahed, Bob S Carter, Mehmet Toner, Leonora Balaj, David T Ting, Xandra O Breakefield, Shannon L Stott
Extracellular vesicles (EVs) carry RNA, DNA, proteins, and lipids. Specifically, tumor-derived EVs have the potential to be utilized as disease-specific biomarkers. However, a lack of methods to isolate tumor-specific EVs has limited their use in clinical settings. Here we report a sensitive analytical microfluidic platform (EVHB-Chip) that enables tumor-specific EV-RNA isolation within 3 h. Using the EVHB-Chip, we achieve 94% tumor-EV specificity, a limit of detection of 100 EVs per μL, and a 10-fold increase in tumor RNA enrichment in comparison to other methods...
January 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29330084/real-time-reverse-transcription-recombinase-polymerase-amplification-assay-for-rapid-detection-of-porcine-epidemic-diarrhea-virus
#20
Jianchang Wang, Ruoxi Zhang, Jinfeng Wang, Qingan Han, Libing Liu, Yanan Li, Wanzhe Yuan
Porcine epidemic diarrhea (PED), which is caused by porcine epidemic diarrhea virus (PEDV), is an acute, highly contagious enteric disease characterized by severe watery diarrhea, vomiting, dehydration, and high mortality in suckling piglets. A real-time reverse-transcription recombinase polymerase amplification assay (RT-RPA) was developed based on the nucleocapsid gene of PEDV. RT-RPA assay was performed at 40 °C for 20 min. The assay could detect both the classical and variant PEDV strains, and there was no cross-reaction with other pathogens tested...
January 9, 2018: Journal of Virological Methods
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