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https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27914105/genetic-variants-in-the-integrin-signaling-pathway-genes-predict-cutaneous-melanoma-survival
#2
Hongyu Li, Yanru Wang, Hongliang Liu, Qiong Shi, Yinghui Xu, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
To identify genetic variants involved in prognosis of cutaneous melanoma (CM), we investigated associations of single nucleotide polymorphisms (SNPs) of genes in the integrin signaling pathway with CM survival by re-analyzing a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center (MDACC), and then validated significant SNPs in another GWAS from Harvard University. In the MDACC study, 1,148 SNPs were significantly associated with CM-specific survival (CMSS) (P ≤ 0...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27914103/-click-on-the-alkynylated-carbon-quantum-dots-an-efficient-surface-functionalization-for-specific-biosensing-and-bioimaging
#3
Mingxuan Gao, Lin Yang, Yi Zheng, Xiaoxi Yang, Hongyan Zou, Jing Han, Zexi Liu, Yuanfang Li, Cheng Zhi Huang
Surface functionalization is an essential prerequisite for wide and specific applications of nanoparticles such as photoluminescent (PL) carbon quantum dots (CQDs), but still remains as a major challenge. In this report, alkynylated CQDs, which were prepared at first from carboxyl-rich CQDs through amidation with propargylamine in the presence of 1,1'-carbonyldiimidazole, were efficiently modified with azido molecular beacon DNA through copper(I)-catalyzed alkyne-azide cycloaddition reaction (CuAAC). As the proof of concept, the DNA-modified CQDs was then bonded with 5-nm gold nanoparticles (AuNPs) through gold-sulfur bond...
December 3, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27914100/transient-immunological-and-clinical-effectiveness-of-treating-mice-bearing-premalignant-oral-lesions-with-pd-1-antibodies
#4
Corinne A Levingston, M Rita I Young
A carcinogen-induced premalignant oral lesion model that progresses to oral cancer was used to examine the impact of blocking PD-1 on cytokine expression and on progression of lesions to cancer. The results of this study show increased production of IL-2 and the inflammatory cytokines IL-6, IL-17 and TNF-α by spleen cells of lesion-bearing mice that were treated with PD-1 antibody for one week compared to cytokine production by spleen cells of lesion-bearing mice treated with control antibody. Production of IFN-γ increased at 3 weeks of PD-1 antibody treatment, although production of the other Th1 and inflammatory mediators declined...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27914099/discrepancies-between-multicriteria-decision-analysis-based-ranking-and-intuitive-ranking-for-pharmaceutical-benefit-risk-profiles-in-a-hypothetical-setting
#5
K Hoshikawa, S Ono
WHAT IS KNOWN AND OBJECTIVE: Multicriteria decision analysis (MCDA) has been generally considered a promising decision-making methodology for the assessment of drug benefit-risk profiles. There have been many discussions in both public and private sectors on its feasibility and applicability, but it has not been employed in official decision-makings. For the purpose of examining to what extent MCDA would reflect the first-hand, intuitive preference of evaluators in practical pharmaceutical assessments, we conducted a questionnaire survey involving the participation of employees of pharmaceutical companies...
December 2, 2016: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27914085/determining-platelet-activation-and-aggregation-in-response-to-bacteria
#6
Oonagh Shannon
Many pathogenic bacteria have been reported to interact with human platelets to mediate platelet activation and aggregation. The importance of these interactions to the immune response or pathogenesis of bacterial infection has not been clarified. It may therefore be valuable to assess platelet responses mediated by diverse strains of bacteria. Here, I describe a method to study platelet integrin activation and granule release using flow cytometry, and a complementary method to study platelet aggregation using a dedicated platelet aggregometer...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27914081/negative-staining-and-transmission-electron-microscopy-of-bacterial-surface-structures
#7
Matthias Mörgelin
Negative staining is an essential and versatile staining technique in transmission electron microscopy that can be employed for visualizing bacterial cell morphology, size, and surface architecture at high resolution. Bacteria are usually transferred by passive electrostatic adsorption from suspensions in physiological saline onto suitable hydrophilic support films on electron microscopic grids. There they are contrasted, or "stained," by heavy metal ions in solution such as tungsten, uranyl, molybdate, or vanadate compounds...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27914038/serotonin-5-ht6-receptor-antagonists-in-alzheimer-s-disease-therapeutic-rationale-and-current-development-status
#8
Hilda Ferrero, Maite Solas, Paul T Francis, Maria J Ramirez
Alzheimer's disease (AD) is the most common cause of dementia in elderly people. Because of the lack of effective treatments for this illness, research focused on identifying compounds that restore cognition and functional impairments in patients with AD is a very active field. Since its discovery in 1993, the serotonin 5-HT6 receptor has received increasing attention, and a growing number of studies supported 5-HT6 receptor antagonism as a target for improving cognitive dysfunction in AD. This article reviews the rationale behind investigations into the targeting of 5-HT6 receptors as a symptomatic treatment for cognitive and/or behavioral symptoms of AD...
December 3, 2016: CNS Drugs
https://www.readbyqxmd.com/read/27913991/24-hour-efficacy-and-ocular-surface-health-with-preservative-free-tafluprost-alone-and-in-conjunction-with-preservative-free-dorzolamide-timolol-fixed-combination-in-open-angle-glaucoma-patients-insufficiently-controlled-with-preserved-latanoprost-monotherapy
#9
Anastasios-Georgios Konstas, Konstadinos G Boboridis, Paraskevas Kapis, Konstantinos Marinopoulos, Irini C Voudouragkaki, Dimitrios Panayiotou, Dimitrios G Mikropoulos, Eirini Pagkalidou, Anna-Bettina Haidich, Andreas Katsanos, Luciano Quaranta
INTRODUCTION: The aim of the present study was to evaluate the 24-h efficacy, tolerability, and ocular surface health with preservative-free (PF) tafluprost and a PF triple drug regimen comprising tafluprost and dorzolamide/timolol fixed combination (DTFC) in open-angle glaucoma patients who were insufficiently controlled with preserved branded or generic latanoprost monotherapy and who exhibited signs or symptoms of ocular surface disease (OSD). METHODS: Prospective, observer-masked, crossover, comparison...
December 2, 2016: Advances in Therapy
https://www.readbyqxmd.com/read/27913987/a-moral-normative-framework-for-the-judgment-of-actions-and-decisions-in-the-construction-industry-and-engineering-part-ii
#10
Omar J Alkhatib
The construction industry is typically characterized as a fragmented, multi-organizational setting in which members from different technical backgrounds and moral values join together to develop a particular business or project. The most challenging obstacle in the construction process is to achieve a successful practice and to identify and apply an ethical framework to manage the behavior of involved specialists and contractors and to ensure the quality of all completed construction activities. The framework should reflect a common moral ground for myriad people involved in this process to survive and compete ethically in today's turbulent construction market...
December 2, 2016: Science and Engineering Ethics
https://www.readbyqxmd.com/read/27913986/establishing-clinical-meaning-and-defining-important-differences-for-patient-reported-outcomes-measurement-information-system-promis-%C3%A2-measures-in-juvenile-idiopathic-arthritis-using-standard-setting-with-patients-parents-and-providers
#11
Esi M Morgan, Constance A Mara, Bin Huang, Kimberly Barnett, Adam C Carle, Jennifer E Farrell, Karon F Cook
BACKGROUND: Patient-Reported Outcomes Measurement Information System (PROMIS) measures are used increasingly in clinical care. However, for juvenile idiopathic arthritis (JIA), scores lack a framework for interpretation of clinical severity, and minimally important differences (MID) have not been established, which are necessary to evaluate the importance of change. METHODS: We identified clinical severity thresholds for pediatric PROMIS measures of mobility, upper extremity function (UE), fatigue, and pain interference working with adolescents with JIA, parents of JIA patients, and clinicians, using a standard setting methodology modified from educational testing...
December 2, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27913984/basal-insulin-persistence-associated-factors-and-outcomes-after-treatment-initiation-a-retrospective-database-study-among-people-with-type-2-diabetes-mellitus-in-japan
#12
Irene Hadjiyianni, Urvi Desai, Shuichi Suzuki, Jasmina I Ivanova, Dachuang Cao, Noam Y Kirson, Dai Chida, Caroline Enloe, Howard G Birnbaum, Magaly Perez-Nieves
INTRODUCTION: The objective of this study was to assess basal insulin persistence, associated factors, and economic outcomes for insulin-naïve people with type 2 diabetes mellitus (T2DM) in Japan. METHODS: People aged at least 18 years with T2DM with first claim for basal insulin between May 2006 and April 2013 (index date), no insulin use before index date, and continuous insurance coverage for 6 months before (baseline) and 12 months after index date were selected from the Japan Medical Center Database...
December 2, 2016: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/27913978/case-series-study-of-invasive-pulmonary-aspergillosis
#13
Ana I Aller-García, Carmen Castro-Méndez, Ana Alastruey-Izquierdo, Elena M Marín-Martínez, Ismail Zakariya-Yousef Breval, Carmen Couto-Caro, Juan C López-Marín, Nicolás Peña-Griñán, Maite Ruiz de Pipaon, Ana M Romero-Mejías, Estrella Martín-Mazuelos
Diagnosis of invasive pulmonary aspergillosis (IPA) is challenging. The objective of the study was to assess the value of microbiological tests to the diagnosis of IPA in the absence of non-specific radiological data. A retrospective study of 23 patients with suspicion of IPA and positivity of some microbiological diagnostic tests was performed. These tests included conventional microbiological culture, detection of Aspergillus galactomannan (GM) antigen and in some patients (1 → 3)-β-D-glucan (BDG) and Aspergillus fumigatus DNA using the LightCycler(®) SeptiFast test...
December 2, 2016: Mycopathologia
https://www.readbyqxmd.com/read/27913964/intracerebroventricular-streptozotocin-as-a-model-of-alzheimer-s-disease-neurochemical-and-behavioral-characterization-in-mice
#14
Katherine Garcia Ravelli, Barbara Dos Anjos Rosário, Rosana Camarini, Marina Sorrentino Hernandes, Luiz Roberto Britto
Streptozotocin has been widely used to mimic some aspects of Alzheimer's disease (AD). However, especially in mice, several characteristics involved in the streptozotocin (STZ)-induced AD pathology are not well known. The main purpose of this study was to evaluate temporally the expression of AD-related proteins, such as amyloid-β (Aβ), choline acetyltransferase (ChAT), synapsin, axonal neurofilaments, and phosphorylated Tau in the hippocampus following intracerebroventricular (icv) administration of STZ in adult mice...
December 2, 2016: Neurotoxicity Research
https://www.readbyqxmd.com/read/27913957/chemical-characterization-of-rainwater-at-a-high-altitude-site-nainital-in-the-central-himalayas-india
#15
Deewan Singh Bisht, A K Srivastava, H Joshi, K Ram, N Singh, M Naja, M K Srivastava, S Tiwari
The present study investigates the chemical composition of rainwater (RW) from a high-altitude site "Nainital" (1958 m above msl) in the central Himalaya region, to understand the influence of local, regional, and long-range transport of pollutants. A total of 55 (2 in pre-monsoon and 53 in monsoon) RW samples were collected during the study period (June-September 2012) and were analyzed for major anions and cations using an ion chromatograph. The pH of precipitation events ranged from 4.95 to 6.50 (average 5...
December 2, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27913940/cost-analysis-and-cost-benefit-analysis-of-a-medication-review-with-follow-up-service-in-aged-polypharmacy-patients
#16
Amaia Malet-Larrea, Estíbaliz Goyenechea, Miguel A Gastelurrutia, Begoña Calvo, Victoria García-Cárdenas, Juan M Cabases, Aránzazu Noain, Fernando Martínez-Martínez, Daniel Sabater-Hernández, Shalom I Benrimoj
BACKGROUND: Drug related problems have a significant clinical and economic burden on patients and the healthcare system. Medication review with follow-up (MRF) is a professional pharmacy service aimed at improving patient's health outcomes through an optimization of the medication. OBJECTIVE: To ascertain the economic impact of the MRF service provided in community pharmacies to aged polypharmacy patients comparing MRF with usual care, by undertaking a cost analysis and a cost-benefit analysis...
December 2, 2016: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/27913938/cardiotoxic-and-dyslipidemic-effects-of-doxorubicin-and-betulinic-acid-amide
#17
M G Klinnikova, E L Lushnikova, E V Koldysheva, T G Tolstikova, I V Sorokina, E I Yuzhik, M M Mzhelskaya
Changes in the blood lipid spectrum and structural reorganization of the rat myocardium in response to injection of a single sublethal dose of doxorubicin (7 mg/kg) alone and in combination with course administration of betulonic acid amide (100 mg/kg/day for 14 days) were studied. Betulinic acid amide in the specified dose exhibited less pronounced cardiotoxic (necrobiotic impairment of cardiomyocytes) and dyslipidemic (increase of cholesterol and triglyceride levels) effects in comparison with doxorubicin...
December 3, 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27913935/regulation-of-contractile-responses-of-vascular-smooth-muscle-cells-under-conditions-of-hypoxia-reoxygenation
#18
S V Gusakova, Yu G Birulina, L V Smagliy, I V Kovalev, I V Petrova, A V Nosarev, S N Orlov
We analyzed the effects of hypoxia and reoxygenation on changes in contractile activity in rat aortic smooth muscles. Both hypoxia and reoxygenation induced relaxation of smooth muscle cells precontracted with high-potassium Krebs solution (30 mM KCl) or α1-adrenoceptor agonist phenylephrine. Vasodilation resulted from enhancement of potassium permeability of smooth muscle cell membranes caused by activation of voltage-gated potassium channels (triggered by both precontracting agents) or by opening of ATP-sensitive potassium channels (phenylephrine)...
December 2, 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27913932/almost-2-of-spanish-breast-cancer-families-are-associated-to-germline-pathogenic-mutations-in-the-atm-gene
#19
A Tavera-Tapia, L Pérez-Cabornero, J A Macías, M I Ceballos, G Roncador, M de la Hoya, A Barroso, V Felipe-Ponce, R Serrano-Blanch, C Hinojo, M D Miramar-Gallart, M Urioste, T Caldés, S Santillan-Garzón, J Benitez, A Osorio
PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX)...
December 2, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27913921/language-difficulty-at-school-entry-and-the-trajectories-of-hyperactivity-inattention-problems-from-ages-4-to-11-evidence-from-a-population-representative-cohort-study
#20
Shaun Goh Kok Yew, Richard O'Kearney
Latent growth curve modelling was used to contrast the developmental trajectories of hyperactivity-inattention (H-I) problems across childhood for children with a language difficulty at the start of school and those with typical language and to examine if the presence of a language difficulty moderates the associations of child, parent and peer predictors with these trajectories. Unconditional and language-status conditional latent growth curves of H-I problems were estimated for a large nationally representative cohort of children, comprising 1627 boys (280 - language difficulty) and 1609 girls (159 - language difficulty) measured at age 4 to 5, 6 to 7, 8 to 9 and 10 to 11...
December 3, 2016: Journal of Abnormal Child Psychology
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