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https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#1
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27889097/axonal-degeneration-is-regulated-by-a-transcriptional-program-that-coordinates-expression-of-pro-and-anti-degenerative-factors
#2
Maya Maor-Nof, Erez Romi, Hadas Sar Shalom, Valeria Ulisse, Calanit Raanan, Aviv Nof, Dena Leshkowitz, Roland Lang, Avraham Yaron
Developmental neuronal cell death and axonal elimination are controlled by transcriptional programs, of which their nature and the function of their components remain elusive. Here, we identified the dual specificity phosphatase Dusp16 as part of trophic deprivation-induced transcriptome in sensory neurons. Ablation of Dusp16 enhanced axonal degeneration in response to trophic withdrawal, suggesting that it has a protective function. Moreover, axonal skin innervation was severely reduced while neuronal elimination was increased in the Dusp16 knockout...
November 21, 2016: Neuron
https://www.readbyqxmd.com/read/27885742/catheter-ablation-in-the-right-ventricular-outflow-tract-associated-with-occlusion-of-left-anterior-descending-coronary-artery
#3
Daniel Benhayon, Eyal Nof, William W Chik, Francis Marchlinski
Major vessel injury during right ventricular outflow tract ablation is not something widely recognized, and routine evaluation of the left anterior descending artery (LAD) location in relation to the septal right ventricle is not routinely performed. In the present article we report a case of acute LAD occlusion after RVOT ablation and then illustrate the intimately close relationship of the left anterior descending artery to the anterior septal site of the RVOT (∼ 2-3 cm under the pulmonic valve), using a combination of intracardiac echocardiography and 3D electroanatomical mapping (EAM) recorded during a second case, in order to specifically point to the area at risk...
November 25, 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/27864889/goal-directed-treatment-for-osteoporosis-a-progress-report-from-the-asbmr-nof-working-group-on-goal-directed-treatment-for-osteoporosis
#4
REVIEW
Steven R Cummings, Felicia Cosman, Michael E Lewiecki, John T Schousboe, Douglas Bauer, Dennis Black, Thomas Brown, Angela M Cheung, Kathleen Cody, Cyrus Cooper, Adolfo Diez-Perez, Richard Eastell, Peyman Hadji, Takayuki Hosoi, Suzanne Jan De Beur, Risa Kagan, Douglas P Kiel, Ian Reid, Daniel H Solomon, Susan Randall
The American Society for Bone and Mineral Research and the United States National Osteoporosis Foundation (NOF) formed a working group to develop principles of goal-directed treatment and identify gaps that need to be filled to implement this approach. With goal-directed treatment, a treatment goal would first be established choice of treatment determined by the probability of achieving that goal. Goals of treatment would be freedom from fracture, a T-score > -2.5, which is above the NOF threshold for initiating treatment, or achievement of an estimated risk level below the threshold for initiating treatment...
November 19, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27846777/development-and-characterisation-of-in-vitro-human-oral-mucosal-equivalents-derived-from-immortalised-oral-keratinocytes
#5
Luke Jennings, Helen Elizabeth Colley, Jane Ong, Foti Panagakos, James Masters, Harsh Trivedi, Craig Murdoch, Simon Whawell
Tissue engineered oral mucosal equivalents (OME) are being increasingly used to measure toxicity, drug delivery, and to model oral diseases. Current OME are mainly comprised of normal oral keratinocytes (NOK) cultured on top of a normal oral fibroblasts (NOF)-containing matrix. However, the commercial supply of NOK is limited, restricting widespread use of these mucosal models. In addition, NOK suffer from poor longevity and donor-to-donor variability. Therefore, we constructed, characterised and tested the functionality of oral mucosal equivalents based on commercial TERT2-immortalised oral keratinocytes (FNB6) in order to produce a more readily available alternative to NOK-based OME...
November 15, 2016: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/27662240/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-clinical-practice-guidelines-for-the-diagnosis-and-treatment-of-postmenopausal-osteoporosis-2016
#6
Pauline M Camacho, Steven M Petak, Neil Binkley, Bart L Clarke, Steven T Harris, Daniel L Hurley, Michael Kleerekoper, E Michael Lewiecki, Paul D Miller, Harmeet S Narula, Rachel Pessah-Pollack, Vin Tangpricha, Sunil J Wimalawansa, Nelson B Watts
AACE = American Association of Clinical Endocrinologists AFF = atypical femur fracture ASBMR = American Society for Bone and Mineral Research BEL = best evidence level BMD = bone mineral density BTM = bone turnover marker CBC = complete blood count CI = confidence interval DXA = dual-energy X-ray absorptiometry EL = evidence level FDA = U.S. Food and Drug Administration FLEX = Fracture Intervention Trial (FIT) Long-term Extension FRAX(®) = Fracture Risk Assessment Tool GFR = glomerular filtration rate GI = gastrointestinal HORIZON = Health Outcomes and Reduced Incidence with Zoledronic Acid Once Yearly IOF = International Osteoporosis Foundation ISCD = International Society for Clinical Densitometry IU = international units IV = intravenous LSC = least significant change NBHA = National Bone Health Alliance NOF = National Osteoporosis Foundation 25(OH)D = 25-hydroxy vitamin D ONJ = osteonecrosis of the jaw PINP = serum carboxy-terminal propeptide of type I collagen PTH = parathyroid hormone R = recommendation RANK = receptor activator of nuclear factor kappa-B RANKL = receptor activator of nuclear factor kappa-B ligand RCT = randomized controlled trial RR = relative risk S-CTX = serum C-terminal telopeptide SQ = subcutaneous VFA = vertebral fracture assessment WHO = World Health Organization...
September 2, 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27643923/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-clinical-practice-guidelines-for-the-diagnosis-and-treatment-of-postmenopausal-osteoporosis-2016-executive-summary
#7
Pauline M Camacho, Steven M Petak, Neil Binkley, Bart L Clarke, Steven T Harris, Daniel L Hurley, Michael Kleerekoper, E Michael Lewiecki, Paul D Miller, Harmeet S Narula, Rachel Pessah-Pollack, Vin Tangpricha, Sunil J Wimalawansa, Nelson B Watts
AACE = American Association of Clinical Endocrinologists AFF = atypical femur fracture ASBMR = American Society for Bone and Mineral Research BEL = best evidence level BMD = bone mineral density BTM = bone turnover marker CBC = complete blood count CI = confidence interval DXA = dual-energy X-ray absorptiometry EL = evidence level FDA = U.S. Food and Drug Administration FLEX = Fracture Intervention Trial (FIT) Long-term Extension FRAX(®) = Fracture Risk Assessment Tool GFR = glomerular filtration rate GI = gastrointestinal HORIZON = Health Outcomes and Reduced Incidence with Zoledronic Acid Once Yearly IOF = International Osteoporosis Foundation ISCD = International Society for Clinical Densitometry IU = international units IV = intravenous LSC = least significant change NBHA = National Bone Health Alliance NOF = National Osteoporosis Foundation 25(OH)D = 25-hydroxy vitamin D ONJ = osteonecrosis of the jaw PINP = serum carboxy-terminal propeptide of type I collagen PTH = parathyroid hormone R = recommendation RANK = receptor activator of nuclear factor kappa-B RANKL = receptor activator of nuclear factor kappa-B ligand RCT = randomized controlled trial RR = relative risk S-CTX = serum C-terminal telopeptide SQ = subcutaneous VFA = vertebral fracture assessment WHO = World Health Organization...
September 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27609649/provision-of-fascia-iliaca-compartment-block-in-the-acute-management-of-proximal-femoral-fractures-a-national-observational-study-of-uk-hospitals
#8
George W Miller, Jenna J Godrey, Markus L Sagmeister, Thomas L Lewis
AIMS: Fascia iliaca compartment block (FICB) is a simple regional anaesthetic block that has been shown to be superior to other regional anaesthetic blocks with regards to success rate and analgesic efficacy in the acute management of proximal femoral fractures. The objective was to quantitatively assess the provision of FICB for patients with proximal femoral fractures in the UK. METHODS: A national observational study of all acute medical trusts in the UK (n=187) was conducted...
September 3, 2016: Injury
https://www.readbyqxmd.com/read/27559318/cycling-in-the-absence-of-task-related-feedback-effects-on-pacing-and-performance
#9
Benjamin L M Smits, Remco C J Polman, Bert Otten, Gert-Jan Pepping, Florentina J Hettinga
INTRODUCTION: To achieve personal goals in exercise task completion, exercisers have to regulate, distribute, and manage their effort. In endurance sports, it has become very commonplace for athletes to consult task-related feedback on external devices to do so. The aim of the present study was to explore the importance of the presence of this information by examining the influence of the absence of commonly available task-related feedback on effort distribution and performance in experienced endurance athletes...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27259988/nonossifying-fibromas-of-the-distal-tibia-possible-etiologic-relationship-to-the-interosseous-membrane
#10
David A Muzykewicz, Amanda Goldin, Nicholas Lopreiato, Katie Fields, John Munch, Jerry Dwek, Scott J Mubarak
PURPOSE: Nonossifying fibromas (NOFs) present in a characteristic pattern in the distal tibia. Their predilection to this region and etiology remain imprecisely defined. METHODS: We performed a retrospective chart review of patients between January 2003 and March 2014 for distal tibial NOFs. We then reviewed radiographs (XRs), computed tomography (CT), and magnetic resonance imaging (MRI) for specific lesion characteristics. RESULTS: We identified 48 distal tibia NOFs in 47 patients (31 male, 16 female; mean age 12...
August 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27241810/severity-and-pattern-of-bone-mineral-loss-in-endocrine-causes-of-osteoporosis-as-compared-to-age-related-bone-mineral-loss
#11
D Dutta, P Dharmshaktu, A Aggarwal, K Gaurav, R Bansal, N Devru, U C Garga, B Kulshreshtha
BACKGROUND: Data are scant on bone health in endocrinopathies from India. This study evaluated bone mineral density (BMD) loss in endocrinopathies [Graves' disease (GD), type 1 diabetes mellitus (T1DM), hypogonadotrophic hypogonadism (HypoH), hypergonadotropic hypogonadism (HyperH), hypopituitarism, primary hyperparathyroidism (PHPT)] as compared to age-related BMD loss [postmenopausal osteoporosis (PMO), andropause]. MATERIALS AND METHODS: Retrospective audit of records of patients >30 years age attending a bone clinic from August 2014 to January 2016 was done...
July 2016: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/27239308/improving-analgesia-in-fractured-neck-of-femur-with-a-standardised-fascia-iliaca-block-protocol
#12
Paul Watson, Szabolcs Rugonfalvi-Kiss
Fractured neck of femur (NOF) causes significant morbidity and pain for patients; adequate analgesia is an essential component of patient centred care. Patients experiencing greater pain during treatment for fractured NOF are slower to mobilise and have poorer health-related quality of life. NICE guidance suggests considering adding nerve blocks if paracetamol and opioids do not provide sufficient preoperative pain relief. We set out to audit pain levels in this group of patients in a small District General Hospital and to develop a protocol to improve analgesia provision if required...
2016: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/27231276/reduction-in-post-operative-acute-kidney-injury-following-a-change-in-antibiotic-prophylaxis-policy-for-orthopaedic-surgery-an-observational-study
#13
Heather Walker, Andrea Patton, Gwen Bayne, Charis Marwick, Jacqueline Sneddon, Peter Davey, Dilip Nathwani, Samira Bell
OBJECTIVES: Evidence has shown that a prophylactic antibiotic regimen of flucloxacillin and gentamicin for orthopaedic surgery was associated with increased rates of post-operative acute kidney injury (AKI). This resulted in changes in the national antibiotic policy recommendation for orthopaedic surgical prophylaxis. This study aimed to assess whether this change from flucloxacillin and gentamicin to co-amoxiclav was associated with changes in the rates of AKI and Clostridium difficile infection (CDI)...
September 2016: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/27229335/the-national-osteoporosis-foundation-s-methods-and-processes-for-developing-position-statements
#14
Taylor C Wallace, Douglas C Bauer, Robert F Gagel, Susan L Greenspan, Joan M Lappe, Meryl S LeBoff, Robert R Recker, Kenneth G Saag, Andrea J Singer
The methods and processes described in this manuscript have been approved and adopted by the NOF Board of Trustees on November 11, 2015. This manuscript has been peer-reviewed by the NOF Research Committee and Osteoporosis International. The National Osteoporosis Foundation frequently publishes position statements for the benefit of educating healthcare professionals and the general public on a particular issue and/or concern related to preventing osteoporosis and/or promoting strong bones throughout the lifespan...
2016: Archives of Osteoporosis
https://www.readbyqxmd.com/read/27219881/osteoporosis-management-in-a-real-clinical-setting-heterogeneity-in-intervention-approach-and-discrepancy-in-treatment-rates-when-compared-with-the-nogg-and-nof-guidelines
#15
G Kyriakos, A Vidal-Casariesgo, L V Quiles-Sánchez, J A Urosa-Maggi, A Calleja-Fernández, A Hernández-Moreno, M D Ballesteros-Pomar, I Cano-Rodriguez
Objective: The National Osteoporosis Guideline Group (NOGG) proposes intervention thresholds that vary by age. Instead, the National Osteoporosis Foundation (NOF) proposes a fixed threshold for decision. The aim of the present study was to compare the actual therapeutic decisions taken in a routine clinical practice setting with those recommended by the NOF and NOGG guidelines. Material and methods: A cross-sectional study was conducted in individuals referred to a densitometric unit who were not receiving antiresorptive therapy...
May 24, 2016: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/27218051/a-selective-corrective-exercise-to-decrease-falling-and-improve-functional-balance-in-idiopathic-parkinson-s-disease
#16
Parisa Sedaghati, Hassan Daneshmandi, Noureddin Karimi, Amir-Hossein Barati
BACKGROUND: Posture instability and unsteady gait disorders in Parkinson's Disease (PD) usually contribute to fall-related fractures. Fall-related trauma in PD is the most common reason for injury. Despite providing modern care for PD patients (PP) in the recent years, anti-PD drugs have no effect on falling. There is an urgent need to administer exercise interventions to reduce falls and related injuries in the rehabilitation program of PP. OBJECTIVES: To explore the effect of a selective 10-week corrective exercise with an emphasis on gait training activities (GTA) on the number of falls (NOFs), fear of falling, functional balance, timed up and go (TUG) test among PD patients...
February 2016: Trauma Monthly
https://www.readbyqxmd.com/read/27171924/-network-for-oncological-advisory-service-nof-a-pilot-project-for-long-term-follow-up-care-of-pediatric-cancer-patients
#17
K Kremeike, A Mohr, R Kampschulte, J Bergmann, S Beil, U Neuhaus, M-L Dierks, C Driftmann, A Duhr, S Groeneveld, M Kaspar, G Kowollik, H-H Miest, I Schene, D Reinhardt
Background: In Germany some 2 000 children and adolescent are diagnosed with cancer every year. Curing rates are increasing and therewith also the number of survivors is growing. Survivors frequently suffer from long-term effects of the disease and its treatment, but long-term follow-up care shows deficits. Method: The Network for oncological advisory service (NOF) started in 11/2013, researching and building up a network of available support in Lower Saxony. A telephone hotline was installed in 01/2014 in order to advice survivors on their problems...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27070773/-non-ossifying-fibroma-metaphyseal-fibrous-defect
#18
D V Rogozhin, D M Konovalov, A S Kozlov, A G Talalaev, A P Ektova
Non-ossifying fibroma (NOF) or metaphyseal fibrous defect (MFD) is benign fibroblast proliferation with the presence of osteoclast-like multinucleated giant cells. The most cases of NOF/MFD occur in the metaphysis of the long tubular bones of the lower extremities, more commonly in the metaphysis of the femur and in the proximal metaphysis of the tibia. This lesion has a characteristic X-ray pattern and requires no surgical intervention, except for cases of a pathologic fracture or a risk for the latter. The paper analyzes 35 NOF/MFD cases in children and adolescents...
March 2016: Arkhiv Patologii
https://www.readbyqxmd.com/read/27058542/investigation-of-atmospheric-effects-on-retrieval-of-sun-induced-fluorescence-using-hyperspectral-imagery
#19
Zhuoya Ni, Zhigang Liu, Zhao-Liang Li, Françoise Nerry, Hongyuan Huo, Rui Sun, Peiqi Yang, Weiwei Zhang
Significant research progress has recently been made in estimating fluorescence in the oxygen absorption bands, however, quantitative retrieval of fluorescence data is still affected by factors such as atmospheric effects. In this paper, top-of-atmosphere (TOA) radiance is generated by the MODTRAN 4 and SCOPE models. Based on simulated data, sensitivity analysis is conducted to assess the sensitivities of four indicators-depth_absorption_band, depth_nofs-depth_withfs, radiance and Fs/radiance-to atmospheric parameters (sun zenith angle (SZA), sensor height, elevation, visibility (VIS) and water content) in the oxygen absorption bands...
2016: Sensors
https://www.readbyqxmd.com/read/27044549/single-and-repeated-dose-pharmacokinetics-of-ceftaroline-in-plasma-and-soft-tissues-of-healthy-volunteers-for-two-different-dosing-regimens-of-ceftaroline-fosamil
#20
Peter Matzneller, Edith Lackner, Heimo Lagler, Beatrix Wulkersdorfer, Zoe Österreicher, Markus Zeitlinger
Ceftaroline fosamil (CPT-F) is currently approved for use for the treatment of complicated skin and soft tissue infections and community-acquired pneumonia at 600 mg twice daily (q12h), but other dosing regimens are under evaluation. To date, very limited data on the soft tissue pharmacokinetics (PK) of the active compound, ceftaroline (CPT), are available. CPT concentrations in the plasma, muscle, and subcutis of 12 male healthy volunteers were measured by microdialysis after single and repeated intravenous administration of 600 mg CPT-F q12h or three times daily (q8h) in two groups of 6 subjects each...
June 2016: Antimicrobial Agents and Chemotherapy
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