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https://www.readbyqxmd.com/read/28425213/genotype-phenotype-correlations-in-cornelia-de-lange-syndrome-behavioral-characteristics-and-changes-with-age
#1
Joanna Moss, Jessica Penhallow, Morad Ansari, Stephanie Barton, David Bourn, David R FitzPatrick, Judith Goodship, Peter Hammond, Catherine Roberts, Alice Welham, Chris Oliver
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424173/association-between-estimated-glomerular-filtration-rate-and-outcomes-in-patients-with-diabetic-foot-ulcers-a-3-year-follow-up-study
#2
Yang He, Hongjie Qian, Lei Xu, Shanshan Zhang, Xueming Gu, Junyi Gu, Jianyuan Shi, Yaping Shen, Jian-Min Liu, Zhengyi Tang
OBJECTIVE: End stage renal disease and dialysis have been proven to be associated with poor prognoses in diabetic foot ulcers (DFU). However, it has rarely been reported whether and to what extent milder renal insufficiency effects the prognosis. The purpose of this study was to investigate the categorized impact of estimated glomerular filtration (eGFR) on the outcomes of patients with DFU. DESIGN AND METHODS: Three hundred and sixty-six DFU patients hospitalized in a Chinese tertiary hospital were recruited and classified into 4 groups according to the eGFRs as follows: normal (≥90), mildly reduced (60-89), moderately reduced (30-59), and severely reduced (<30)...
April 19, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28410924/society-for-vascular-surgery-wound-ischemia-foot-infection-wifi-score-correlates-with-the-intensity-of-multimodal-limb-treatment-and-patient-centered-outcomes-in-patients-with-threatened-limbs-managed-in-a-limb-preservation-center
#3
William P Robinson, Lorraine Loretz, Colleen Hanesian, Julie Flahive, John Bostrom, Nicholas Lunig, Andres Schanzer, Louis Messina
OBJECTIVE: The Society for Vascular Surgery Wound, Ischemia, foot Infection (WIfI) system aims to stratify threatened limbs according to their anticipated natural history and estimate the likelihood of benefit from revascularization, but whether it accurately stratifies outcomes in limbs undergoing aggressive treatment for limb salvage is unknown. We investigated whether the WIfI stage correlated with the intensity of limb treatment required and patient-centered outcomes. METHODS: We stratified limbs from a prospectively maintained database of consecutive patients referred to a limb preservation center according to WIfI stage (October 2013-May 2015)...
April 11, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28391447/the-comparability-of-hr-pqct-bone-measurements-is-improved-by-scanning-anatomically-standardized-regions
#4
S Bonaretti, S Majumdar, T F Lang, S Khosla, A J Burghardt
We investigated the sensitivity of distal bone density, structure, and strength measurements by high-resolution peripheral quantitative computed tomography (HR-pQCT) to variability in limb length. Our results demonstrate that HR-pQCT should be performed at a standard %-of-total-limb-length to avoid substantial measurement bias in population study comparisons and the evaluation of individual skeletal status in a clinical context. INTRODUCTION: High-resolution peripheral quantitative computed tomography (HR-pQCT) measures of bone do not account for anatomic variability in bone length: a 1-cm volume is acquired at a fixed offset from an anatomic landmark...
April 8, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28386400/neuropathic-pain-may-be-common-in-chronic-lower-limb-tendinopathy-a-prospective-cohort-study
#5
Patrick C Wheeler
BACKGROUND: To identify the prevalence of neuropathic pain, through the use of the painDETECT questionnaire, in a cohort of patients with chronic lower limb tendinopathy conditions. METHODS: Patients with chronic lower limb tendinopathy conditions treated within a Sport and Exercise Medicine hospital clinic were identified from clinical records. At the time of the clinical consultation, pain and painDETECT scores were recorded. RESULTS: In total, 282 suitable patients with chronic lower limb tendinopathy conditions were identified who had completed a painDETECT questionnaire...
February 2017: British Journal of Pain
https://www.readbyqxmd.com/read/28384495/two-degrees-of-freedom-quasi-static-emg-force-at-the-wrist-using-a-minimum-number-of-electrodes
#6
Edward A Clancy, Carlos Martinez-Luna, Marek Wartenberg, Chenyun Dai, Todd R Farrell
Surface electromyogram-controlled powered hand/wrist prostheses return partial upper-limb function to limb-absent persons. Typically, one degree of freedom (DoF) is controlled at a time, with mode switching between DoFs. Recent research has explored using large-channel EMG systems to provide simultaneous, independent and proportional (SIP) control of two joints-but such systems are not practical in current commercial prostheses. Thus, we investigated site selection of a minimum number of conventional EMG electrodes in an EMG-force task, targeting four sites for a two DoF controller...
March 29, 2017: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/28379872/patients-with-knee-osteoarthritis-who-score-highly-on-the-paindetect-questionnaire-present-with-multi-modality-hyperalgesia-increased-pain-and-impaired-physical-function
#7
Penny Moss, Heather A E Benson, Rob Will, Anthony Wright
OBJECTIVES: PainDETECT is a self-report questionnaire that can be used to identify features of neuropathic pain. A proportion of patients with knee osteoarthritis score highly on the PainDETECT questionnaire. This study aimed to determine whether those with a higher "positive neuropathic" score on the PainDETECT questionnaire also had greater pain, hypersensitivity and reduced function compared to individuals with knee OA with lower PainDETECT scores. METHODS: 130 participants with knee OA completed the PainDETECT, Western Ontario and McMaster Universities Arthritis Index (WOMAC) and Pain Quality Assessment Scale (PQAS) questionnaires...
April 4, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28376160/history-of-keratinocyte-carcinoma-and-risk-of-melanoma-a-prospective-cohort-study
#8
Shaowei Wu, Eunyoung Cho, Wen-Qing Li, Abrar A Qureshi
Background: The association between history of keratinocyte carcinoma (KC, also known as nonmelanoma skin cancer) and risk of developing invasive melanoma has not been assessed comprehensively using prospective data. Methods: We followed 91 846 women in the Nurses' Health Study (NHS; 1984-2010), 114 918 women in the NHSII (1989-2011), and 48 946 men in the Health Professionals Follow-up Study (1986-2010) for diagnoses of KC and melanoma biennially. Cox proportional hazards models were used to compute hazard ratios (HRs) and 95% confidence intervals (CIs) of melanoma associated with history of KC, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC)...
April 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28368831/continuous-movement-tracking-performance-for-predictable-and-unpredictable-tasks-with-vibrotactile-feedback
#9
Peter B Shull, Xiangyang Zhu, Mark R Cutkosky
The purpose of this paper was to determine human movement tracking performance in response to vibrotactile feedback tracking for predictable and unpredictable continuous movement tasks. Thirteen subjects performed elbow flexion/extension and knee flexion/extension continuous movement tracking tasks while receiving tactile stimulation proportional to limb joint position error. Subjects followed 0.2-2.0Hz desired movements for predictable tasks (single sinusoid) and unpredictable tasks (combination of three sinusoids)...
March 29, 2017: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28365850/acute-bone-changes-after-lower-limb-amputation-resulting-from-traumatic-injury
#10
D A Bemben, V D Sherk, W J J Ertl, M G Bemben
Bone health is critical for lower limb amputees, affecting their ability to use a prosthesis and their risk of osteoporosis. We found large losses in hip bone mineral density (BMD) and in amputated bone strength in the first year of prosthesis use, suggesting a need for load bearing interventions early post-amputation. INTRODUCTION: Large deficits in hip areal BMD (aBMD) and residual limb volumetric BMD (vBMD) occur after lower limb amputation; however, the time course of these bone quality changes is unknown...
April 1, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28363767/time-scaling-based-sliding-mode-control-for-neuromuscular-electrical-stimulation-under-uncertain-relative-degrees
#11
Tiago Roux Oliveira, Luiz Rennó Costa, João Marcos Yamasaki Catunda, Alexandre Visintainer Pino, William Barbosa, Márcio Nogueira de Souza
This paper addresses the application of the sliding mode approach to control the arm movements by artificial recruitment of muscles using Neuromuscular Electrical Stimulation (NMES). Such a technique allows the activation of motor nerves using surface electrodes. The goal of the proposed control system is to move the upper limbs of subjects through electrical stimulation to achieve a desired elbow angular displacement. Since the human neuro-motor system has individual characteristics, being time-varying, nonlinear and subject to uncertainties, the use of advanced robust control schemes may represent a better solution than classical Proportional-Integral (PI) controllers and model-based approaches, being simpler than more sophisticated strategies using fuzzy logic or neural networks usually applied in this control problem...
March 28, 2017: Medical Engineering & Physics
https://www.readbyqxmd.com/read/28358245/changes-in-the-demographics-of-intravenous-drug-users-with-mycotic-common-femoral-artery-pseudoaneurysm-as-a-consequence-of-self-injection-does-not-influence-outcome-following-emergency-ligation
#12
Richard P Stevenson, Catriona Semple, Keith Hussey, Josh McGovern, Wesley P Stuart, David B Kingsmore
Objectives The reported annual incidence of mycotic pseudoaneurysm of the common femoral artery in intravenous drug users has been estimated at 0.03%. Over the past 5 years in Scotland, the proportion of people receiving specialist attention for heroin use over the age of 40 years has increased from 15 to 22%. Although routinely managed with arterial ligation (without reconstruction), some series have reported rates of major limb amputation of up to 10%. We sought to define whether this management strategy was still acceptable in an older population...
January 1, 2017: Vascular
https://www.readbyqxmd.com/read/28356343/targeted-deletion-of-kcne3-impairs-skeletal-muscle-function-in-mice
#13
Elizabeth C King, Vishal Patel, Marie Anand, Xiaoli Zhao, Shawn M Crump, Zhaoyang Hu, Noah Weisleder, Geoffrey W Abbott
KCNE3 (MiRP2) forms heteromeric voltage-gated K(+) channels with the skeletal muscle-expressed KCNC4 (Kv3.4) α subunit. KCNE3 was the first reported skeletal muscle K(+) channel disease gene, but the requirement for KCNE3 in skeletal muscle has been questioned. Here, we confirmed KCNE3 transcript and protein expression in mouse skeletal muscle using Kcne3(-/-) tissue as a negative control. Whole-transcript microarray analysis (770,317 probes, interrogating 28,853 transcripts) findings were consistent with Kcne3 deletion increasing gastrocnemius oxidative metabolic gene expression and the proportion of type IIa fast twitch oxidative muscle fibers, which was verified using immunofluorescence...
March 29, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28349317/trends-in-procedures-at-major-trauma-centres-in-new-south-wales-australia-an-analysis-of-state-wide-trauma-data
#14
Matthew Oliver, Michael M Dinh, Kate Curtis, Royce Paschkewitz, Oran Rigby, Zsolt J Balogh
OBJECTIVES: To describe the trend in major trauma surgical procedures and interventional radiology in major trauma patients in Australia over the past 6 years. METHODS: This was a retrospective review of adult major trauma (Injury Severity Score greater than 15) patients using the New South Wales Statewide Trauma Registry between 2009 and 2014. Major trauma surgical procedures were classified into abdominal, neurosurgery, cardiothoracic and interventional radiology...
March 27, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28346707/periurethral-muscle-derived-mononuclear-cell-injection-improves-urethral-sphincter-restoration-in-rats
#15
Marcelo Pitelli Turco, Alex Balduino de Souza, Isida de Campos Sousa, Paula Fratini, Mariana Matera Veras, Marcio Nogueira Rodrigues, José de Bessa, Marina Pandolphi Brolio, Katia Ramos Moreira Leite, Homero Bruschini, Miguel Srougi, Maria Angélica Miglino, Cristiano Mendes Gomes
AIMS: Investigate the effect of a novel cell-based therapy with skeletal muscle-derived mononuclear cells (SMDMCs) in a rat model of stress urinary incontinence. METHODS: Male Wistar-Kyoto rats' hind limb muscles were enzymatically dissociated, and SMDMCs were isolated without needing expansion. The cell population was characterized. Twenty female rats underwent urethrolysis. One week later, 10 rats received periurethral injection of 10(6) cells (SMDMC group), and 10 rats received saline injections (Saline group)...
March 27, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28341754/proportional-recovery-from-lower-limb-motor-impairment-after-stroke
#16
Marie-Claire Smith, Winston D Byblow, P Alan Barber, Cathy M Stinear
BACKGROUND AND PURPOSE: In people with preserved corticospinal tract (CST) function after stroke, upper limb impairment resolves by ≈70% within 3 months. This is known as the proportional recovery rule. Patients without CST function do not fit this rule and have worse upper limb outcomes. This study investigated resolution of motor impairment in the lower limb (LL). METHODS: Patients with stroke and LL weakness were assessed 3 days and 3 months after stroke with the LL Fugl-Meyer...
March 24, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28329332/excessive-daytime-sleepiness-predicts-neurodegeneration-in-idiopathic-rem-sleep-behavior-disorder
#17
Junying Zhou, Jihui Zhang, Siu Ping Lam, Joey Wy Chan, Vincent Mok, Anne Chan, Shirley Xin Li, Yaping Liu, Xiangdong Tang, Wing Ho Yung, Yun Kwok Wing
Study Objectives: To determine the association of excessive daytime sleepiness (EDS) with the conversion of neurodegenerative diseases in patients with idiopathic REM sleep behavior disorder (iRBD). Methods: A total of 179 patients with iRBD (79.1% males, mean age = 66.3 ± 9.8 years) were consecutively recruited. Forty-five patients with Epworth Sleepiness Scale score ≥ 14 were defined as having EDS. Demographic, clinical and polysomnographic data were compared between iRBD patients with and without EDS...
March 16, 2017: Sleep
https://www.readbyqxmd.com/read/28328714/somatic-profile-of-the-elite-boulderers-in-poland
#18
Mariusz Ozimek, Marcin Krawczyk, Emilian Zadarko, Zbigniew Barabasz, Tadeusz Ambroży, Arkadiusz Stanula, Dawid K Mucha, Adam Jurczak, Dariusz Mucha
Ozimek, M, Krawczyk, M, Zadarko, E, Barabasz, Z, Ambroży, T, Stanula, A, Mucha, DK, Jurczak, A, and Mucha, D. Somatic profile of the elite boulderers in Poland. J Strength Cond Res 31(4): 963-970, 2017-The study was designed to determine the values of selected somatic characteristics, body proportions, and the somatotype of elite bouldering climbers in Poland and to establish the relationships between the values of the somatic characteristics and climber's performance in bouldering. The study was conducted in a group of elite sport climbers (n = 10) who were ranked by the Polish Mountaineering Association in 2011, 2012, and 2013...
April 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28320491/the-effect-of-rider-weight-and-additional-weight-in-icelandic-horses-in-t%C3%A3-lt-part-ii-stride-parameters-responses
#19
V Gunnarsson, G J Stefánsdóttir, A Jansson, L Roepstorff
This study investigated the effects of rider weight in the BW ratio (BWR) range common for Icelandic horses (20% to 35%), on stride parameters in tölt in Icelandic horses. The kinematics of eight experienced Icelandic school horses were measured during an incremental exercise test using a high-speed camera (300 frames/s). Each horse performed five phases (642 m each) in tölt at a BWR between rider (including saddle) and horse starting at 20% (BWR20) and increasing to 25% (BWR25), 30% (BWR30), 35% (BWR35) and finally 20% (BWR20b) was repeated...
March 21, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28320228/living-as-a-person-using-a-lower-limb-prosthesis-in-nepal
#20
Anna Järnhammer, Beatrice Andersson, Prakash Raj Wagle, Lina Magnusson
PURPOSE: The purpose of this study is to explore experiences of persons in Nepal using lower-limb prostheses, in relation to specific articles in the Convention on the Rights of Persons with Disabilities that consider mobility, education, health, rehabilitation, and work and employment. METHOD: Qualitative interviews were conducted with 16 persons using lower limb prostheses. Content analysis was applied to the data. RESULTS: Six themes emerged: The lower-limb prosthesis is essential for mobility and daily life; Limited mobility in challenging terrain and request for reduced pain when using prosthesis; Difficulties in finding and sustaining employment emphasized the importance of vocational training; Appreciation of comprehensive rehabilitation together with other persons with amputations, but covering related costs is a struggle; Satisfied with health care, but concerned that it creates debt and dependence upon others; and finally, Limited ability creates negative self-image and varied attitudes in other people...
March 21, 2017: Disability and Rehabilitation
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