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https://www.readbyqxmd.com/read/28296976/exome-wide-association-study-reveals-novel-susceptibility-genes-to-sporadic-dilated-cardiomyopathy
#1
Ulrike Esslinger, Sophie Garnier, Agathe Korniat, Carole Proust, Georgios Kararigas, Martina Müller-Nurasyid, Jean-Philippe Empana, Michael P Morley, Claire Perret, Klaus Stark, Alexander G Bick, Sanjay K Prasad, Jennifer Kriebel, Jin Li, Laurence Tiret, Konstantin Strauch, Declan P O'Regan, Kenneth B Marguiles, Jonathan G Seidman, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Christian Hengstenberg, Michel Komajda, Hakon Hakonarson, Richard Isnard, Eloisa Arbustini, Harald Grallert, Stuart A Cook, Christine E Seidman, Vera Regitz-Zagrosek, Thomas P Cappola, Philippe Charron, François Cambien, Eric Villard
AIMS: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. METHODS AND RESULTS: 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0...
2017: PloS One
https://www.readbyqxmd.com/read/28288613/outcome-of-patients-after-lower-limb-fracture-with-partial-weight-bearing-postoperatively-treated-with-or-without-anti-gravity-treadmill-alter-g%C3%A2-during-six-weeks-of-rehabilitation-a-protocol-of-a-prospective-randomized-trial
#2
Ralf Henkelmann, Sebastian Schneider, Daniel Müller, Ralf Gahr, Christoph Josten, Jörg Böhme
BACKGROUND: Partial or complete immobilization leads to different adjustment processes like higher risk of muscle atrophy or a decrease of general performance. The present study is designed to prove efficacy of the anti-gravity treadmill (alter G®) compared to a standard rehabilitation protocol in patients with tibial plateau (group 1)or ankle fractures (group 2) with six weeks of partial weight bearing of 20 kg. METHODS AND DESIGN: This prospective randomized study will include a total of 60 patients for each group according to predefined inclusion and exclusion criteria...
March 14, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28272172/reply-re-diplopia-and-symblepharon-following-muller-s-muscle-conjunctival-resection-in-patients-on-long-term-multiple-antiglaucoma-medications
#3
Natalia F Callaway, Mohamed S Sayed, Wendy W Lee
No abstract text is available yet for this article.
March 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28255756/the-prevention-of-musculoskeletal-complaints-a-randomized-controlled-trial-on-additional-effects-of-a-work-related-psychosocial-coaching-intervention-compared-to-physiotherapy-alone
#4
Annette Becker, Peter Angerer, Andreas Müller
PURPOSE: Research shows that psychosocial factors play a significant role on the emergence of musculoskeletal complaints (MSC). The aim of this study was to determine whether a coaching intervention which was focussed on enabling better strategies for coping with work stressors is superior to physiotherapy alone in the reduction of MSC. METHODS: 68 nurses were randomized to an intervention group (IG, n = 34) or a control group (CG, n = 34). The IG and CG completed a weekly individual physiotherapy unit (10 weeks)...
March 2, 2017: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/28255291/pediatric-blepharoptosis
#5
REVIEW
Kevin T Jubbal, Katarzyna Kania, Tara L Braun, William R Katowitz, Douglas P Marx
Congenital blepharoptosis, caused by levator muscle dysgenesis, presents at birth and may lead to disturbed visual development and function. Other causes of ptosis in pediatric patients can be myogenic, neurogenic, mechanical, or traumatic. Timely correction is, therefore, critical, and careful preoperative planning and intraoperative considerations are crucial to achieve optimal outcomes and minimize potential complications. The various surgical techniques, including the frontalis suspension or sling, levator resection and advancement, Müller's muscle conjunctival resection (the Putterman procedure), and modified Fasanella-Servat procedure are each associated with distinct indications, benefits, and drawbacks, necessitating a unique tailored approach to each surgical candidate...
February 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28253391/association-of-upper-eyelid-ptosis-repair-and-blepharoplasty-with-headache-related-quality-of-life
#6
Ilke Bahceci Simsek
Importance: Headache can be a functional indication for ptosis repair and blepharoplasty. Objective: To evaluate the changes in headache-related quality of life in patients who underwent upper eyelid ptosis repair or blepharoplasty. Design, Setting, and Participants: A prospective cohort study was conducted among 108 patients who underwent standard upper eyelid blepharoplasty and 44 patients who underwent ptosis repair (levator resection, Müller muscle resection, or frontalis suspension) for obscuration of the superior visual field at an ophthalmology clinic's oculoplastic department from September 1, 2014, to September 1, 2015...
March 2, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28224229/structural-changes-in-the-thigh-muscles-following-trans-femoral-amputation
#7
C Putz, J Block, S Gantz, D W W Heitzmann, T Dreher, B Lehner, M Alimusaj, S I Wolf, S Müller
INTRODUCTION: Early ambulation is the principal objective in trans-femoral amputees. Postamputation modifications complicate the rehabilitation process due to a reduced control at the interface between stump and prosthesis. The aim of this study is to determine whether magnetic resonance imaging depicts the amount of fatty degeneration of the thigh muscles after trans-femoral amputation (TFA). METHODS: A total of 12 patients following a TFA on the basis of a bone neoplasm or metastasis with an evaluable postoperative MRI were identified...
February 21, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28210184/surgical-treatment-of-a-rare-case-of-bilateral-ptosis-due-to-localized-ocular-amyloidosis
#8
Gianluca Scuderi, Solmaz Abdolrahimzadeh, Antonietta Troccola, Marco Mazzocchi, Santi Maria Recupero
We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously. Following complete ophthalmological examination and evaluation of the ptosis we carried out tarsal and fornix biopsy, which revealed accumulation of a weakly eosinophilic amyloid positive substance. We performed surgical correction using the levator aponeurosis-Müller's muscle complex re-adaptation technique and amyloid substance debulking in all the palpebral layers in the left eye...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28190456/mutations-in-inpp5k-encoding-a-phosphoinositide-5-phosphatase-cause-congenital-muscular-dystrophy-with-cataracts-and-mild-cognitive-impairment
#9
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell'Aica, René P Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C Walter, Tim M Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E Swan, Hanns Lochmüller, Jan Senderek
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, we identified bi-allelic mutations in INPP5K, encoding inositol polyphosphate-5-phosphatase K...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28129025/outcomes-of-levator-advancement-and-m%C3%A3-ller-muscle-conjunctiva-resection-for-the-repair-of-upper-eyelid-ptosis
#10
G N Thomas, J Chan, G Sundar, S Amrith
Both the Müller muscle-conjunctiva resection (MMCR) and levator advancement (LA) procedures can be used to manage ptosis in patients with good levator function. The aim of this article is to evaluate the efficacy and cosmetic outcomes of the two procedures. The clinical records of 29 consecutive eyelids of 26 patients undergoing MMCR and 30 eyelids of 23 patients undergoing LA were analysed. Eleven (42%) in the LA group and 9 (39%) in the MMCR group were male. The preoperative eyelid measurements were significantly different in the LA compared to the MMCR groups, in terms of palpebral aperture (PA) (6...
February 2017: Orbit
https://www.readbyqxmd.com/read/28128465/oro-facial-impairment-in-stroke-patients
#11
REVIEW
M Schimmel, T Ono, O L T Lam, F Müller
Stroke is considered one of the leading causes of death and acquired disability with a peak prevalence over the age of 80 years. Stroke may cause debilitating neurological deficiencies that frequently result in sensory deficits, motor impairment, muscular atrophy, cognitive deficits and psychosocial impairment. Oro-facial impairment may occur due to the frequent involvement of the cranial nerves' cortical representation areas, central nervous system pathways or motoneuron pools. The aim of this narrative, non-systematic review was to discuss the implications of stroke on oro-facial functions and oral health-related quality of life (OHRQoL)...
January 27, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28096355/a-natural-product-inhibits-the-initiation-of-%C3%AE-synuclein-aggregation-and-suppresses-its-toxicity
#12
Michele Perni, Céline Galvagnion, Alexander Maltsev, Georg Meisl, Martin B D Müller, Pavan K Challa, Julius B Kirkegaard, Patrick Flagmeier, Samuel I A Cohen, Roberta Cascella, Serene W Chen, Ryan Limboker, Pietro Sormanni, Gabriella T Heller, Francesco A Aprile, Nunilo Cremades, Cristina Cecchi, Fabrizio Chiti, Ellen A A Nollen, Tuomas P J Knowles, Michele Vendruscolo, Adriaan Bax, Michael Zasloff, Christopher M Dobson
The self-assembly of α-synuclein is closely associated with Parkinson's disease and related syndromes. We show that squalamine, a natural product with known anticancer and antiviral activity, dramatically affects α-synuclein aggregation in vitro and in vivo. We elucidate the mechanism of action of squalamine by investigating its interaction with lipid vesicles, which are known to stimulate nucleation, and find that this compound displaces α-synuclein from the surfaces of such vesicles, thereby blocking the first steps in its aggregation process...
February 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28092265/the-fibronectin-synergy-site-re-enforces-cell-adhesion-and-mediates-a-crosstalk-between-integrin-classes
#13
Maria Benito-Jardón, Sarah Klapproth, Irene Gimeno-LLuch, Tobias Petzold, Mitasha Bharadwaj, Daniel J Müller, Gabriele Zuchtriegel, Christoph A Reichel, Mercedes Costell
Fibronectin (FN), a major extracellular matrix component, enables integrin-mediated cell adhesion via binding of α5β1, αIIbβ3 and αv-class integrins to an RGD-motif. An additional linkage for α5 and αIIb is the synergy site located in close proximity to the RGD motif. We report that mice with a dysfunctional FN-synergy motif (Fn1(syn/syn)) suffer from surprisingly mild platelet adhesion and bleeding defects due to delayed thrombus formation after vessel injury. Additional loss of β3 integrins dramatically aggravates the bleedings and severely compromises smooth muscle cell coverage of the vasculature leading to embryonic lethality...
January 16, 2017: ELife
https://www.readbyqxmd.com/read/28074297/-delirium-analgesia-and-sedation-in-intensive-care-medicine-development-of-a-protocol-based-management-approach
#14
A Wolf, R Mörgeli, A Müller, B Weiss, C Spies
Intensive care treatment has long-term consequences that are often not immediately apparent to the health care providers. The combination of muscle weakness, cognitive damage, and psychological disorders is comprised under the term post-intensive care syndrome (PICS). Analgesia and sedation protocols, as well as nonpharmacological preventive and therapeutic approaches, are effective tools for avoiding complications and improving long-term survival. The principle of "early goal-directed therapy" is fundamental...
February 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28068656/mechanisms-of-improved-exercise-performance-under-hyperoxia
#15
Silvia Ulrich, Elisabeth D Hasler, Séverine Müller-Mottet, Stephan Keusch, Michael Furian, Tsogyal D Latshang, Simon Schneider, Stéphanie Saxer, Konrad E Bloch
BACKGROUND: The impact of hyperoxia on exercise limitation is still incompletely understood. OBJECTIVES: We investigated to which extent breathing hyperoxia enhances the exercise performance of healthy subjects and which physiologic mechanisms are involved. METHODS: A total of 32 healthy volunteers (43 ± 15 years, 12 women) performed 4 bicycle exercise tests to exhaustion with ramp and constant-load protocols (at 75% of the maximal workload [Wmax] on FiO2 0...
2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28038685/grafted-c-kit-ssea1-eye-wall-progenitor-cells-delay-retinal-degeneration-in-mice-by-regulating-neural-plasticity-and-forming-new-graft-to-host-synapses
#16
Xi Chen, Zehua Chen, Zhengya Li, Chen Zhao, Yuxiao Zeng, Ting Zou, Caiyun Fu, Xiaoli Liu, Haiwei Xu, Zheng Qin Yin
BACKGROUND: Despite diverse pathogenesis, the common pathological change observed in age-related macular degeneration and in most hereditary retinal degeneration (RD) diseases is photoreceptor loss. Photoreceptor replacement by cell transplantation may be a feasible treatment for RD. The major obstacles to clinical translation of stem cell-based cell therapy in RD remain the difficulty of obtaining sufficient quantities of appropriate and safe donor cells and the poor integration of grafted stem cell-derived photoreceptors into the remaining retinal circuitry...
December 30, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28026721/standard-approaches-to-the-acetabulum-part-2-ilioinguinal-approach
#17
REVIEW
A Gänsslen, S T Grechenig, M Nerlich, M Müller, W Grechenig
The ilioinguinal approach is one of the standard approaches in the treatment of displaced acetabular fractures used during the last decades (9). The meta-analysis of Giannoudis et al. showed that 21.9% of acetabular fractures were historically treated using this approach (3). One of the disadvantages of this study was, that studies focussing especially on posterior wall stabilization and studies dealing with more complex fracture types treated by extended approaches were integrated. Thus, these fracture types were overrepresented...
2016: Acta Chirurgiae Orthopaedicae et Traumatologiae Cechoslovaca
https://www.readbyqxmd.com/read/28017248/treatment-of-blepharospasm-with-apraclonidine
#18
Dhanya Vijayakumar, Subhashie Wijemanne, Joseph Jankovic
OBJECTIVE: To describe improvement in blepharospasm with apraclonidine. BACKGROUND: Blepharospasm is a focal dystonia involving chiefly the orbicularis oculi and periocular muscles resulting in involuntary sustained eyelid closure. Botulinum toxin injection is the mainstay of treatment with meaningful improvement in over 85% of patients, but the effects often wear off within 3-4months. Apraclonidine is an alpha-2 adrenergic receptor agonist, which causes contraction of superior tarsal (Müller) muscle which may improve blepharospasm-related eyelid closure...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28011464/contour-symmetry-of-the-upper-eyelid-following-bilateral-conjunctival-m%C3%A3-ller-s-muscle-resection
#19
Marcelo Golbert, Filipe Jose Pereira, Denny M Garcia, Antonio A V Cruz
BACKGROUND: Conjunctiva-Müller muscle resection (CMMR) is a simple, effective, and predictable procedure for internal treatment of ptosis. OBJECTIVES: The authors determined contour symmetry of the upper eyelid following bilateral CMMR. METHODS: Thirty control participants (ie, without ptosis) and 44 patients with acquired bilateral blepharoptosis who underwent CMMR were evaluated in a prospective study. To assess symmetry of lid contour, distances from midpupil to the upper eyelid (ie, MPLDs) were determined radially at intervals of 15° (total, 180°) along the palpebral fissure, and MPLDs at each angle were compared for right and left eyes...
December 23, 2016: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/27999189/mesenchymal-marker-expression-is-elevated-in-m%C3%A3-ller-cells-exposed-to-high-glucose-and-in-animal-models-of-diabetic-retinopathy
#20
Ti Zhou, Di Che, Yuqing Lan, Zhenzhen Fang, Jinye Xie, HaiJun Gong, ChaoYang Li, Juan Feng, Honghai Hong, Weiwei Qi, Caiqi Ma, Zhonghan Yang, WeiBin Cai, Jun Zhong, Jianxing Ma, Xia Yang, Guoquan Gao
Müller cells are retinal glial cells and exhibit a fibroblast-like phenotype and ability to migrate in diabetic retinopathy (DR). However, expression of mesenchymal markers, which promote fibrosis in various organs, has not been characterized in the diabetic retina. We examined changes in the expression of these markers in Müller cells exposed to high glucose and in animal models of diabetic retinopathy. High glucose conditions increased mesenchymal maker expression and migration in Müller cells. Snail, N-cadherin, Vimentin, β-catenin, and α-smooth muscle actin (α-SMA) levels were all dramatically increased in retinas from humans with diabetic retinopathy (DR) and from DR mouse models...
December 15, 2016: Oncotarget
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