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https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#1
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28077318/alcohol-microbiome-life-style-influence-alcohol-and-non-alcoholic-organ-damage
#2
REVIEW
Manuela G Neuman, Samuel W French, Samir Zakhari, Stefen Malnick, Helmut K Seitz, Lawrence B Cohen, Mikko Salaspuro, Andreea Voinea Griffin, Andrei Barasch, Irina A Kirpich, Paul G Thomes, Laura W Schrum, Terrence M Donohue, Kusum Kharbanda, Marcus Cruz, Mihai Opris
This paper is based upon the "8th Charles Lieber's Satellite Symposium" organized by Manuela G. Neuman at the Research Society on Alcoholism Annual Meeting, onJune 25, 2016 at New Orleans, Louisiana, USA. The integrative symposium investigated different aspects of alcohol-induced liver disease (ALD) as well as non-alcohol-induced liver disease (NAFLD) and possible repair. We revealedthe basic aspects of alcohol metabolism that may be responsible for the development of liver diseaseas well as the factors that determine the amount, frequency and which type of alcohol misuse leads to liver and gastrointestinal diseases...
January 7, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28048509/th-a-brc-03-aapm-tg218-measurement-methods-and-tolerance-levels-for-patient-specific-imrt-verification-qa
#3
M Miften
: AAPM TG-135U1 QA for Robotic Radiosurgery - Sonja Dieterich Since the publication of AAPM TG-135 in 2011, the technology of robotic radiosurgery has rapidly developed. AAPM TG-135U1 will provide recommendations on the clinical practice for using the IRIS collimator, fiducial-less real-time motion tracking, and Monte Carlo based treatment planning. In addition, it will summarize currently available literature about uncertainties. LEARNING OBJECTIVES: 1. Understand the progression of technology since the first TG publication 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047759/th-a-brc-00-new-task-groups-for-external-beam-qa-an-overview
#4
Sonja Dieterich
: AAPM TG-135U1 QA for Robotic Radiosurgery - Sonja Dieterich Since the publication of AAPM TG-135 in 2011, the technology of robotic radiosurgery has rapidly developed. AAPM TG-135U1 will provide recommendations on the clinical practice for using the IRIS collimator, fiducial-less real-time motion tracking, and Monte Carlo based treatment planning. In addition, it will summarize currently available literature about uncertainties. LEARNING OBJECTIVES: 1. Understand the progression of technology since the first TG publication 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047104/th-a-brc-01-aapm-tg-135u1-qa-for-robotic-radiosurgery
#5
S Dieterich
: AAPM TG-135U1 QA for Robotic Radiosurgery - Sonja Dieterich Since the publication of AAPM TG-135 in 2011, the technology of robotic radiosurgery has rapidly developed. AAPM TG-135U1 will provide recommendations on the clinical practice for using the IRIS collimator, fiducial-less real-time motion tracking, and Monte Carlo based treatment planning. In addition, it will summarize currently available literature about uncertainties. LEARNING OBJECTIVES: 1. Understand the progression of technology since the first TG publication 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046441/th-a-brc-02-aapm-tg-178-gamma-stereotactic-radiosurgery-dosimetry-and-quality-assurance
#6
S Goetsch
: AAPM TG-135U1 QA for Robotic Radiosurgery - Sonja Dieterich Since the publication of AAPM TG-135 in 2011, the technology of robotic radiosurgery has rapidly developed. AAPM TG-135U1 will provide recommendations on the clinical practice for using the IRIS collimator, fiducial-less real-time motion tracking, and Monte Carlo based treatment planning. In addition, it will summarize currently available literature about uncertainties. LEARNING OBJECTIVES: 1. Understand the progression of technology since the first TG publication 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28018479/acupuncture-as-an-intervention-to-reduce-alcohol-dependency-a-systematic-review-and-meta-analysis
#7
REVIEW
Charlotte Southern, Charlie Lloyd, Jianping Liu, Congcong Wang, Tingting Zhang, Martin Bland, Hugh MacPherson
BACKGROUND: Acupuncture has been widely used as a treatment for alcohol dependence. An updated and rigorously conducted systematic review is needed to establish the extent and quality of the evidence on the effectiveness of acupuncture as an intervention for reducing alcohol dependence. This review aimed to ascertain the effectiveness of acupuncture for reducing alcohol dependence as assessed by changes in either craving or withdrawal symptoms. METHODS: In this systematic review, a search strategy was designed to identify randomised controlled trials (RCTs) published in either the English or Chinese literature, with a priori eligibility criteria...
2016: Chinese Medicine
https://www.readbyqxmd.com/read/27957697/benefit-of-slit-and-scit-for-allergic-rhinitis-and-asthma
#8
REVIEW
Giovanni Passalacqua, Giorgio Walter Canonica, Diego Bagnasco
Allergen immunotherapy (AIT) has been in use since more than one century, when Leonard Noon experimentally proved its efficacy in hayfever (Noon, in Lancet 1:1572-3, 1911). Since then, AIT was administered only as subcutaneous injections (SCIT) until the sublingual route (SLIT) was proposed in 1986. The use of SLIT was proposed following several surveys from the USA and UK that repeatedly reported fatalities due to SCIT (Lockey et al. in J Allergy Clin Immunol 75(1): 166, 1985; Lockey et al. in J Allergy Clin Immunol 660-77, 1985; Committee on the safety of medicines...
November 2016: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/27854360/recommendations-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-2016-update-acmg-sf-v2-0-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics
#9
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf, Kent D McKelvey, Kelly E Ormond, C Sue Richards, Christopher N Vlangos, Michael Watson, Christa L Martin, David T Miller
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
November 17, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27819708/-challenges-to-occupational-medicine-in-view-of-the-problem-of-work-related-diseases-and-the-aging-of-workforce-directions-for-further-development-and-intentional-changes-in-preventive-care-of-employees-in-poland
#10
Andrzej Marcinkiewicz, Jolanta Walusiak-Skorupa, Marta Wiszniewska, Marcin Rybacki, Wojciech Hanke, Konrad Rydzyński
The system of occupational health care in Poland, based on occupational medicine service, takes care of almost 12.5 million employees subjected to over 4.5 million obligatory periodic medical check ups. This form of providing prophylactic care comes down to examinations dictated by legal regulations, whose scope is not oriented towards a comprehensive workers' health assessment, but to the examination of the systems and organs critical to work-related dangers. Simultaneously, epidemiological data indicate a large number of chronic diseases, which may influence the professional activity, like hypertension or diabetes and a high percentage of patients not aware of their illness...
2016: Medycyna Pracy
https://www.readbyqxmd.com/read/27797105/gradient-and-shim-pre-emphasis-by-inversion-of-a-linear-time-invariant-system-model
#11
S Johanna Vannesjo, Yolanda Duerst, Laetitia Vionnet, Benjamin E Dietrich, Matteo Pavan, Simon Gross, Christoph Barmet, Klaas P Pruessmann
PURPOSE: The goal of this contribution is to enhance the fidelity and switching speed of gradient and shim fields by advancing pre-emphasis toward broadband and full cross-term correction. THEORY AND METHODS: The proposed approach is based on viewing gradient and shim chains as linear, time-invariant (LTI) systems. Pre-emphasis is accomplished by inversion of a broadband digital system model. In the multiple-channel case, it amounts to a matrix of broadband filters that perform concerted self- and cross-term correction...
October 31, 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/27717847/an-updated-meta-analysis-of-transforming-growth-factor-%C3%AE-1-gene-three-well-characterized-polymorphisms-with-asthma
#12
Ying-Shui Yao, Wei-Wei Chang, Lian-Ping He, Yue-Long Jin, Chao-Pin Li
The association between TGF-β1 polymorphisms and asthma risk has been widely reported, but results were controversial. We performed this meta-analysis based on the Preferred Reporting Items for Systematic Reviews and meta-analyses statement (PRISMA). Electronic database of Pub Med, Web of Science, CBM, and CNKI were searched for eligible articles published up to September, 2013. The effect summary odds ratio (OR) and 95% confidence intervals were obtained. Finally, a total of 20 articles were identified, 17 studies with 3694 cases and 5613 controls for C-509T polymorphism, 7 studies with 1109 cases and 1098 controls for T869C polymorphism and 5 studies with 849 cases and 829 controls for G915C polymorphism...
December 2016: Human Immunology
https://www.readbyqxmd.com/read/27618948/continuous-development-of-a-major-incident-in-hospital-victim-tracking-and-tracing-system-withstanding-the-challenges-of-time
#13
J J Mark Haverkort, Jos H Bouman, Jelte D D Wind, Luke P H Leenen
OBJECTIVE: To describe the development of the Patient Barcode Registration System (PBRS) over time and confirm the usability and feasibility of the system's latest version during a large trauma drill. METHODS: The development of a PBRS started around 1993 aiming to provide an effective tool for patient registration, tracking, and tracing during major incidents. The PBRS uses wristbands with barcodes to follow and register patients in the care process. During a large trauma drill, 120 patients and 40 relatives were registered and traced in the system...
September 13, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27572514/clinical-update-on-dengue-chikungunya-and-zika-what-we-know-at-the-time-of-article-submission
#14
Liang E Liu, Meaghan Dehning, Ashley Phipps, Ray E Swienton, Curtis A Harris, Kelly R Klein
OBJECTIVE: Mosquito-borne diseases pose a threat to individual health and population health on both a local and a global level. The threat is even more exaggerated during disasters, whether manmade or environmental. With the recent Zika virus outbreak, it is important to highlight other infections that can mimic the Zika virus and to better understand what can be done as public health officials and health care providers. METHODS: This article reviews the recent literature on the Zika virus as well as chikungunya virus and dengue virus...
August 30, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27537704/genetic-testing-and-genetic-counseling-for-amyotrophic-lateral-sclerosis-an-update-for-clinicians
#15
Jennifer Roggenbuck, Adam Quick, Stephen J Kolb
Patients with amyotrophic lateral sclerosis (ALS) often have questions about why they developed the disease and the likelihood that family members will also be affected. In recent years, providing answers to these questions has become more complex with the identification of multiple novel genes, the newly recognized etiologic link between ALS and frontotemporal dementia (FTD), and the increased availability of commercial genetic testing. A genetic diagnosis is particularly important to establish in the era of emerging gene-based therapies, such as SOD1 antisense oligonucleotide trials...
August 18, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27537073/update-on-tnf-inhibitors-in-dermatology
#16
Jeffrey M Sobell
Emerging data describe new potential indications for tumor necrosis factor (TNF) inhibitors in dermatology, including pediatric psoriasis and hidradenitis suppurativa. New biosimilar TNF agents are in late stages of development and may be available in the United States in the near future. Biosimilar agents are similar but not identical to available TNF inhibitors, and approval requires extensive analytic, toxicity, pharmacokinetic, pharmacodynamic, and clinical testing. Semin Cutan Med Surg 35(supp6):S104-S106...
June 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27526035/update-on-tnf-inhibitors
#17
Francisco A Kerdel
The introduction of tumor necrosis factor (TNF)-α inhibitors dramatically improved the management of psoriasis. Some newer or investigational biologics with different mechanisms of action have demonstrated noninferiority or superiority to etanercept, the first self-injectable anti-TNF-α agent to become available in the United States. Nonetheless, TNF-α inhibitors are likely to remain a mainstay of therapy for many years.
June 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27525380/update-on-epidemiology-diagnosis-and-disease-course-of-atopic-dermatitis
#18
REVIEW
Eric L Simpson, Alan D Irvine, Lawrence F Eichenfield, Sheila F Friedlander
Studies of the prevalence of atopic dermatitis (AD) have provided insights into associated environmental risk factors, demonstrating the complex interactions between the presence of filaggrin (FLG) gene defects and environment. Among other important findings is that elevated transepidermal water loss (TEWL) in newborns is a strong predictor of AD, regardless of FLG status. Recently recognized predictors of disease course and severity include onset of AD signs and symptoms before 12 months of age and the presence of an FLG mutation and concomitant immunoglobulin E sensitization early in life...
June 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27520840/phase-updated-regularized-sense-for-navigator-free-multishot-diffusion-imaging
#19
Zhangxuan Hu, Xiaodong Ma, Trong-Kha Truong, Allen W Song, Hua Guo
PURPOSE: Either SENSE+CG or POCS-ICE methods can be used to correct for motion-induced phase errors in navigator-free multishot diffusion imaging. SENSE+CG has the advantage of a fast convergence, however, occasionally the convergence can be unstable, thus degrading the image quality. POCS-ICE has a stable convergence and can be used with a high number of shots, but its convergence is slow, which limits its practical usage. The study here proposes an improved method based on both SENSE+CG and POCS-ICE, called Phase-updated Regularized SENSE (PR-SENSE), for navigator-free multishot diffusion imaging...
August 13, 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/27518892/professional-activity-information-demands-training-and-updating-needs-of-occupational-medicine-physicians-in-italy-national-survey
#20
Benedetta Persechino, Luca Fontana, Giuliana Buresti, Bruna Maria Rondinone, Patrizia Laurano, Marcello Imbriani, Sergio Iavicoli
OBJECTIVES: Occupational medicine is a discipline continually evolving in response to technological advances, changes in workplaces and production processes, emergence of new occupational risks and diseases and modifications in regulatory framework for occupational health and safety. Therefore, the recurrent revaluation of professional activity, information demands and education and training needs of occupational physicians is essential in order to identify methodologies and tools that may contribute to improvement of their professional knowledge and competency...
2016: International Journal of Occupational Medicine and Environmental Health
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