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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050228/mutation-landscape-and-intra-tumor-heterogeneity-of-two-manecs-of-the-esophagus-revealed-by-multi-region-sequencing
#2
Wenqing Yuan, Zhen Liu, Wanjun Lei, Li Sun, Haijun Yang, Yu Wang, Shweta Ramdas, Xiao Dong, Ruiping Xu, Hong Cai, Jun Z Li, Yang Ke
Mixed adenoneuroendocrine carcinoma (MANEC) in the esophagus is an infrequent but highly malignant cancer with few known genomic alterations. We conducted whole-exome sequencing and whole-genome SNP genotyping for 4-6 tumor subregions and 5-6 adjacent normal tissue sites and 1-3 lymph node metastases in two esophageal MANECs to detect somatic mutations and copy number alterations, and to explore their spatial heterogeneity and underlying clonal structure. TP53 mutation, RB1 deletion or LOH, and PIK3CA, PTEN, KRAS, SOX2, DVL3, TP63 amplification appeared in all regions in both tumors...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29048456/an-evaluation-of-attitude-toward-vaccines-among-healthcare-workers-of-a-university-hospital-in-southern-italy
#3
R Squeri, C Genovese, G Trimarchi, M A R Palamara, V La Fauci
BACKGROUND: Vaccination is an effective and safe health technology. Despite this vaccine coverage falls short of national and international targets. Study design. The aim of the study was to evaluate the views of medical staff at Messina University Hospital regarding vaccinations, their current and future vaccination status and whether they recommend it to their patients. METHODS: The study was conducted from April 2016 to March 2017 by an anonymous face-to-face questionnaire submitted to HCWs...
November 2017: Annali di Igiene: Medicina Preventiva e di Comunità
https://www.readbyqxmd.com/read/29047242/effect-of-sagittal-balance-on-risk-of-falling-after-lateral-lumbar-interbody-fusion-surgery-combined-with-posterior-surgery
#4
Byung Ho Lee, Jae Ho Yang, Hak Sun Kim, Kyung Soo Suk, Hwan Mo Lee, Jin Oh Park, Seong Hwan Moon
PURPOSE: To demonstrate the impact of correcting sagittal balance (SB) on functional outcomes of surgical treatment for degenerative spinal disease and actual falls via utilization of new minimally invasive lumbar fusion techniques via a lateral approach. MATERIALS AND METHODS: From November 2011 to March 2015, we enrolled 56 patients who underwent minimally invasive lateral lumbar interbody fusion (LLIF) and matched 112 patients receiving decompression/postero-lateral fusion (PLF) surgery for lumbar spinal stenosis...
November 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29046089/the-hidden-cost-of-deep-neck-space-infectionsy
#5
R H Hurley, C M Douglas, J Montgomery, L J Clark
Introduction The incidence of deep neck space infection (DNSI) is rising and appears to be related to falling rates of tonsillectomy. The purpose of this study was to assess demographics of patients presenting with DNSI and the financial burden to the National Health Service (NHS). Methods Data were collected retrospectively on patients aged over 16 years admitted to NHS Greater Glasgow and Clyde with DNSI between 2012 and 2016. Demographics, aetiology and use of hospital resources were reviewed. The cost of hospital admissions was calculated using data from NHS Scotland's Information Services Division, the local diagnostics division and the British National Formulary...
October 19, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29045582/strategies-to-reduce-injuries-and-develop-confidence-in-elders-stride-a-cluster-randomized-pragmatic-trial-of-a-multifactorial-fall-injury-prevention-strategy-design-and-methods
#6
Shalender Bhasin, Thomas M Gill, David B Reuben, Nancy K Latham, Jerry H Gurwitz, Patricia Dykes, Siobhan McMahon, Thomas W Storer, Pamela W Duncan, David A Ganz, Shehzad Basaria, Michael E Miller, Thomas G Travison, Erich J Greene, James Dziura, Denise Esserman, Heather Allore, Martha B Carnie, Maureen Fagan, Catherine Hanson, Dorothy Baker, Susan L Greenspan, Neil Alexander, Fred Ko, Albert L Siu, Elena Volpi, Albert W Wu, Jeremy Rich, Stephen C Waring, Robert Wallace, Carri Casteel, Jay Magaziner, Peter Charpentier, Charles Lu, Katy Araujo, Haseena Rajeevan, Scott Margolis, Richard Eder, Joanne M McGloin, Eleni Skokos, Jocelyn Wiggins, Lawrence Garber, Steven B Clauser, Rosaly Correa-De-Araujo, Peter Peduzzi
Background: Fall injuries are a major cause of morbidity and mortality among older adults. We describe the design of a pragmatic trial to compare the effectiveness of an evidence-based, patient-centered multifactorial fall injury prevention strategy to an enhanced usual care. Methods: Strategies to Reduce Injuries and Develop Confidence in Elders (STRIDE) is a 40-month cluster-randomized, parallel-group, superiority, pragmatic trial being conducted at 86 primary care practices in 10 healthcare systems across USA...
October 14, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29045229/case-247-jersey-finger-of-the-fifth-finger
#7
Viviane Marie Créteur, Pierre François Durieux, Nicolas Cuylits
History A 34-year-old man without underlying medical conditions came to the emergency department for evaluation of persistent pain over the volar portion of his right fifth finger after a fall during a football match 3 days before. At physical examination, the injured finger was swollen and purple. Passive and active flexion of the proximal and distal interphalangeal joints were compromised, without interphalangeal instability. Radiography was performed in the emergency department, and the patient was released with a diagnosis of a fifth digit sprain...
November 2017: Radiology
https://www.readbyqxmd.com/read/29044479/the-strategies-to-reduce-injuries-and-develop-confidence-in-elders-intervention-falls-risk-factor-assessment-and-management-patient-engagement-and-nurse-co-management
#8
David B Reuben, Priscilla Gazarian, Neil Alexander, Katy Araujo, Dorothy Baker, Jonathan F Bean, Chad Boult, Peter Charpentier, Pamela Duncan, Nancy Latham, Rosanne M Leipzig, Lisa M Quintiliani, Thomas Storer, Siobhan McMahon
In response to the epidemic of falls and serious falls-related injuries in older persons, in 2014, the Patient Centered Outcomes Research Institute (PCORI) and the National Institute on Aging funded a pragmatic trial, Strategies to Reduce Injuries and Develop confidence in Elders (STRIDE) to compare the effects of a multifactorial intervention with those of an enhanced usual care intervention. The STRIDE multifactorial intervention consists of five major components that registered nurses deliver in the role of falls care managers, co-managing fall risk in partnership with patients and their primary care providers (PCPs)...
October 17, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29042825/antithrombotics-in-trauma-management-strategies-in-the-older-patients
#9
REVIEW
Henna Wong, Nicola Lovett, Nicola Curry, Ku Shah, Simon J Stanworth
The ageing population has resulted in a change in the demographics of trauma, and older adult trauma now accounts for a growing number of trauma admissions. The management of older adult trauma can be particularly challenging, and exhibits differences to that of the younger age groups affected by trauma. Frailty syndromes are closely related with falls, which are the leading cause of major trauma in older adults. Comorbid disease and antithrombotic use are more common in the older population. Physiological changes that occur with ageing can alter the expected clinical presentation of older persons after injury and their susceptibility to injury...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/29042090/the-natural-history-of-flail-chest-injuries
#10
Kamil Naidoo, Layth Hanbali, Peter Bates
PURPOSE: Flail chest (FC) injuries represent a significant burden on trauma services because of its high morbidity and mortality. Current gold standard conservative management strategies for FC, are now being challenged by renewed interest in surgical rib fixation. This retrospective epidemiological study sets out to evaluate FC patients, and quantify the natural history of this injury by studying the injury patterns, epidemiology and mortality of patients sustaining FC injuries admitted to a major trauma centre (MTC)...
September 19, 2017: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
https://www.readbyqxmd.com/read/29041916/early-coordinated-rehabilitation-in-acute-phase-after-hip-fracture-a-model-for-increased-patient-participation
#11
Gillian Asplin, Gunnel Carlsson, Lena Zidén, Gunilla Kjellby-Wendt
BACKGROUND: Studies have shown that patients with hip fracture treated in a Comprehensive Geriatric Care (CGC) unit report better results in comparison to orthopaedic care. Furthermore, involving patients in their healthcare by encouraging patient participation can result in better quality of care and improved outcomes. To our knowledge no study has been performed comparing rehabilitation programmes within a CGC unit during the acute phase after hip fracture with focus on improving patients' perceived participation and subsequent effect on patients' function...
October 17, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/29041838/psychodermatology-liaison-clinic-in-india-a-working-model
#12
Nupur Goyal, Shrutakirthi Shenoi, Smitha S Prabhu, K Sreejayan, Ravindra Munoli, Shweta Rai
Literature reports suggest that up to 30% of dermatology patients have associated psychiatric co-morbidity. A psychodermatology liaison (PD) clinic is essential to deal with such patients, which is almost non-existent in the Indian scenario. In order to report the working pattern of such a clinic and to determine its efficacy with the help of Dermatology Life Quality Index (DLQI) and Short Assessment of Patient Satisfaction (SAPS) questionnaires, we investigated patients with suspected psychocutaneous diseases in an open-labelled two-year prospective study...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/29040554/frailty-syndrome-an-emerging-clinical-problem-in-the-everyday-management-of-clinical-arrhythmias-the-results-of-the-european-heart-rhythm-association-survey
#13
Stefano Fumagalli, Tatjana S Potpara, Torben Bjerregaard Larsen, Kristina H Haugaa, Dan Dobreanu, Alessandro Proclemer, Nikolaos Dagres
The age of patients presenting with complex arrhythmias is increasing. Frailty is a multifaceted syndrome characterized by an increased vulnerability to stressors and a decreased ability to maintain homeostasis. The prevalence of frailty is associated with age. The aims of this European Heart Rhythm Association (EHRA) EP Wire survey were to evaluate the proportion of patients with frailty and its influence on the clinical management of arrhythmias. A total of 41 centres-members of the EHRA Electrophysiology Research Network-in 14 European countries completed the web-based questionnaire in June 2017...
October 10, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29039325/comparative-role-of-pregabalin-and-carbamazepine-regarding-efficacy-in-painful-diabetic-neuropathy
#14
Raana Mahmood, Itrat Jawed, M Irfan Khan, Iffat Mahmood, Talat Tariq, Arfa Kamil, Faiza Z Sayeed, Bushra Z Sayeed
Neuropathic pain is the most severe and resistant type of pain which has impact on quality of life and behaviour; it most commonly occurs at night causing disturbed sleep. Diabetes mellitus is a common cause of painful neuropathy. In this study, we are comparing the effectiveness of old treatment Carbamazepine with Pregabalin in painful diabetic neuropathy. The study was an open-label trial conducted in Diabetic Clinic of Medical Unit-III, Jinnah Post-graduate Medical Center, Karachi. The duration of the study was 90 days, from December 2010 to March 2011...
July 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29038360/carotid-sinus-hypersensitivity-block-of-the-sternocleidomastoid-muscle-does-not-affect-responses-to-carotid-sinus-massage-in-healthy-young-adults
#15
Matthew G Lloyd, James M Wakeling, Michael S Koehle, Robert J Drapala, Victoria E Claydon
The arterial baroreflex is crucial for short-term blood pressure control - abnormal baroreflex function predisposes to syncope and falling. Hypersensitive responses to carotid baroreflex stimulation using carotid sinus massage (CSM) are common in older adults and may be associated with syncope. The pathophysiology of this hypersensitivity is unknown, but chronic denervation of the sternocleidomastoid muscles is common in elderly patients with carotid sinus hypersensitivity (CSH), and is proposed to interfere with normal integration of afferent firing from the carotid baroreceptors with proprioceptive feedback from the sternocleidomastoids, producing large responses to CSM...
October 2017: Physiological Reports
https://www.readbyqxmd.com/read/29038168/fasting-vs-non-fasting-and-low-density-lipoprotein-cholesterol-accuracy
#16
Vasanth Sathiyakumar, Jihwan Park, Asieh Golozar, Mariana Lazo, Renato Quispe, Eliseo Guallar, Roger S Blumenthal, Steven R Jones, Seth S Martin
Background -Recent recommendations favoring non-fasting lipid assessment may impact low-density lipoprotein-cholesterol (LDL-C) estimation. The novel method of LDL-C estimation (LDL-CN) uses a flexible approach to derive patient-specific triglyceride (TG) to very low-density lipoprotein-cholesterol ratios. This adaptability may confer an accuracy advantage in non-fasting patients over the fixed approach of the classical Friedewald method (LDL-CF). Methods -We used a US cross-sectional sample of 1,545,634 patients (959,153 fasting ≥10-12 hours; 586,481 non-fasting) from the second harvest of the Very Large Database of Lipids study to assess for the first time the impact of fasting status on novel LDL-C accuracy...
October 16, 2017: Circulation
https://www.readbyqxmd.com/read/29037927/short-term-outcomes-of-open-reduction-and-internal-fixation-for-sanders-type-iii-calcaneal-fractures-with-and-without-bone-grafts
#17
Hong Cao, Yun-Guang Li, Qing An, Bo Gou, Wei Qian, Xiao-Peng Guo, Ying Zhang
Calcaneal fractures, often caused by a fall from a height, are the most common injuries encountered by orthopedic surgeons. Currently, open anatomic reduction and internal fixation (ORIF) is considered a valuable treatment of displaced intraarticular fractures of the calcaneus; however, the need for bone grafting in the treatment is still controversial. Therefore, in the present study, we investigated the outcomes of 2 methods (with and without bone grafting) used for the surgical treatment of Sanders type III calcaneal fractures...
October 13, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29037908/new-insights-in-the-pathogenesis-of-immunoglobulin-a-vasculitis-henoch-sch%C3%A3-nlein-purpura
#18
REVIEW
Marieke H Heineke, Aranka V Ballering, Agnès Jamin, Sanae Ben Mkaddem, Renato C Monteiro, Marjolein Van Egmond
Immunoglobulin A vasculitis (IgAV), also referred to as Henoch-Schönlein purpura, is the most common form of childhood vasculitis. The pathogenesis of IgAV is still largely unknown. The disease is characterized by IgA1-immune deposits, complement factors and neutrophil infiltration, which is accompanied with vascular inflammation. Incidence of IgAV is twice as high during fall and winter, suggesting an environmental trigger associated to climate. Symptoms can resolve without intervention, but some patients develop glomerulonephritis with features similar to IgA nephropathy that include hematuria, proteinuria and IgA deposition in the glomerulus...
October 13, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29037625/effects-of-proprioceptive-neuromuscular-facilitation-on-balance-strength-and-mobility-of-an-older-adult-with-chronic-stroke-a-case-report
#19
Christopher S Cayco, Edward James R Gorgon, Rolando T Lazaro
This study described the effects of a proprioceptive neuromuscular facilitation (PNF) program on balance, strength, and mobility in an older adult with chronic stroke. The patient was male, aged 69 years, with right hemiplegia for 17 years, and had diminished balance, balance confidence, lower extremity (LE) strength, and gait velocity. He received 1 h of PNF-based therapy thrice a week for six weeks. Outcome measures were: Mini-BESTest, limits of stability (LOS), Activities-Specific Balance Confidence Scale (ABC), Five Time Sit-to-Stand Test (FTSST), Upright Motor Control Test (UMCT), and 10 Meter Walk Test (10 MWT)...
October 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/29036615/monitoring-of-cerebral-oximetry-during-head-up-tilt-test-in-adults-with-history-of-syncope-and-orthostatic-intolerance
#20
E Bachus, H Holm, V Hamrefors, O Melander, R Sutton, M Magnusson, A Fedorowski
Aims: We applied near-infrared-spectroscopy (NIRS) to measure absolute frontal cerebral tissue oxygen saturation (SctO2) during head-up tilt test (HUT) in patients investigated for unexplained syncope. Methods and results: Synchronized non-invasive beat-to-beat haemodynamic monitoring, ECG, SctO2 (NIRS; normal range: 60-80%), and peripheral oxygen saturation (left hand, SpO2) were applied during HUT in a random sample of patients with unexplained syncope. Tracings of 54 patients (mean-age: 55 ± 19 years, 39% male) with negative HUT, vasovagal syncope (VVS), or orthostatic hypotension (OH) were analysed...
September 28, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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