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https://www.readbyqxmd.com/read/29156830/fbn3-gene-involved-in-pathogenesis-of-a-chinese-family-with-bardet-biedl-syndrome
#1
Yun Wang, Abir Garraoui, Liuzhi Zeng, Mingying Lai, Fen He, Huaizhou Wang, Chongyi Jiang, Yulan Chen, Lanlan Dai, Ning Fan, Huanming Yang, Jianguo Zhang, Xuyang Liu
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing. Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29154427/design-of-a-multicentre-randomized-controlled-trial-to-assess-the-safety-and-efficacy-of-dose-titration-by-specialized-nurses-in-patients-with-heart-failure-etific-study-protocol
#2
Juana Oyanguren, LLuisa García-Garrido, Magdalena Nebot Margalef, Iñaki Lekuona, Josep Comin-Colet, Nicolás Manito, Julia Roure, Pilar Ruiz Rodriguez, Cristina Enjuanes, Pedro Latorre, Jesús Torcal Laguna, Susana García-Gutiérrez
AIMS: Heart failure (HF) is associated with many hospital admissions and relatively high mortality, rates decreasing with administration of beta-blockers (BBs), angiotensin-converting-enzyme inhibitors, angiotensin II receptor blockers, and mineralocorticoid receptor antagonists. The effect is dose dependent, suboptimal doses being common in clinical practice. The 2012 European guidelines recommend close monitoring and dose titration by HF nurses. Our main aim is to compare BB doses achieved by patients after 4 months in intervention (HF nurse-managed) and control (cardiologist-managed) groups...
November 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/29151699/scoring-systems-for-peptic-ulcer-bleeding-which-one-to-use
#3
Ivan Budimir, Sanja Stojsavljević, Neven Baršić, Alen Bišćanin, Gorana Mirošević, Sven Bohnec, Lora Stanka Kirigin, Tajana Pavić, Neven Ljubičić
AIM: To compare the Glasgow-Blatchford score (GBS), Rockall score (RS) and Baylor bleeding score (BBS) in predicting clinical outcomes and need for interventions in patients with bleeding peptic ulcers. METHODS: Between January 2008 and December 2013, 1012 consecutive patients admitted with peptic ulcer bleeding (PUB) were prospectively followed. The pre-endoscopic RS, BBS and GBS, as well as the post-endoscopic diagnostic scores (RS and BBS) were calculated for all patients according to their urgent upper endoscopy findings...
November 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29144106/cognitive-reserve-as-a-variable-impacting-the-effectiveness-of-rehabilitation-on-balance-in-parkinson-s-disease
#4
Giulia Piccinini, Isabella Imbimbo, Diego Ricciardi, Daniele Coraci, Claudia Santilli, Maria R Lo Monaco, Claudia Loreti, Maria C Vulpiani, Maria C Silveri, Luca Padua
BACKGROUND: Cognitive reserve (CR) can be considered an active expression of brain resilience in response to damage. Several studies have shown the influence of CR on cognitive impairment and its relationship with cognitive function in Parkinson's disease (PD). AIM: To show if CR influences the effectiveness of balance rehabilitation in PD patients who performed a conventional rehabilitative treatment. DESIGN: Observational longitudinal study...
November 16, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29144028/efficacy-and-safety-of-different-regimens-for-primary-open-angle-glaucoma-or-ocular-hypertension-a-systematic-review-and-network-meta-analysis
#5
Fei Li, Wenbin Huang, Xiulan Zhang
PURPOSE: To assess the efficacy and safety of different regimens, including monotherapy and double therapy, for primary open-angle glaucoma (POAG) or ocular hypertension. METHODS: We searched PubMed, EMBASE and clinicaltrials.gov for studies that fit our inclusion criteria in this network meta-analysis. Randomized controlled trials that report data on efficacy and safety of medications for POAG or ocular hypertension are included. Data on intra-ocular pressure (IOP) lowering effect and incidence of adverse events including hyperaemia and ocular discomfort were extracted and used in mixed-comparison analysis...
November 16, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29141795/validity-and-reliability-of-the-international-cooperative-ataxia-rating-scale-icars-and-the-scale-for-the-assessment-and-rating-of-ataxia-sara-in-multiple-sclerosis-patients-with-ataxia
#6
Yeliz Salcı, Ayla Fil, Hilal Keklicek, Barış Çetin, Kadriye Armutlu, Anıl Dolgun, Aslı Tuncer, Rana Karabudak
BACKGROUND: Ataxia is an extremely common problem in multiple sclerosis (MS) patients. Thus, appropriate scales are required for detailed assessment of this issue. The aim of our study was to investigate the reliability and validity of the Turkish version of the International Cooperative Ataxia Rating Scale (ICARS) and Scale for the Assessment and Rating of Ataxia (SARA), which are widely used in ataxia evaluation in the context of other cerebellar diseases. METHOD: This cross-sectional study included 80 MS patients with Kurtzke cerebellar functional system score (C-FSS) greater than zero and slight pyramidal involvement...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29132482/effectiveness-of-functional-electrical-stimulation-fes-versus-conventional-electrical-stimulation-in-gait-rehabilitation-of-patients-with-stroke
#7
Freeha Sharif, Samina Ghulam, Arshad Nawaz Malik, Quratulain Saeed
OBJECTIVE: To compare the effectiveness of functional electrical stimulation (FES) versus conventional electrical stimulation in gait rehabilitation of patients with stroke for finding the most appropriate problem-oriented treatment for foot drop patients in a shorter time period. STUDY DESIGN: Randomized controlled trial. PLACE AND DURATION OF STUDY: Armed Forces Institute of Rehabilitation Medicine, Rawalpindi, from July to December 2016...
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#8
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29126234/bardet-biedl-syndrome-8-bbs8-protein-is-crucial-for-the-development-of-outer-segments-in-photoreceptor-neurons
#9
Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in 21 genes have been linked to BBS. The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known. To understand the mechanisms by which BBS8 supports rod and cone photoreceptor function, we generated animal models lacking BBS8...
November 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29121594/recovery-of-balance-function-among-individuals-with-total-knee-arthroplasty-comparison-of-responsiveness-among-four-balance-tests
#10
Andy C M Chan, Xi H Ouyang, Deborah A M Jehu, Raymond C K Chung, Marco Y C Pang
BACKGROUND AND AIM: Balance deficits are common after total knee arthroplasty (TKA); however the responsiveness of commonly used balance measurement tools has not been well defined. The objective of this prospective study was to compare the internal and external responsiveness of four measurement tools in assessing recovery of balance function following TKA. METHODS: A total of 134 individuals with TKA (95 women; age: 66.3±6.6years) completed the Balance Evaluation Systems Test (BESTest), Mini-BESTest, Brief-BESTest, and Berg Balance Scale (BBS) at 2, 4, 8, 12, and 24 weeks post-TKA...
October 16, 2017: Gait & Posture
https://www.readbyqxmd.com/read/29116058/a-line-fiducial-method-for-geometric-calibration-of-cone-beam-ct-systems-with-diverse-scan-trajectories
#11
Matthew W Jacobson, Michael Daniel Ketcha, Sarah Capostagno, Alexander Martin, Ali Uneri, Joseph Goerres, Tharindu De Silva, Sureerat Reaungamornrat, Runze Han, Amir Manbachi, Joseph Webster Stayman, Sebastian Vogt, Gerhard Kleinszig, Jeffrey H Siewerdsen
Modern cone-beam CT systems, especially C-arms, are capable of diverse source-detector orbits. However, geometric calibration of these systems using conventional configurations of spherical fiducials (BBs) may be challenged for novel source-detector orbits and system geometries. In part, this is because the BB configurations are designed with careful forethought regarding the intended orbit so that BB marker projections do not overlap in projection views. Examples include helical arrangements of BBs (Rougee et al Proc...
November 8, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/29115847/effect-of-antihypertensive-drugs-on-breast-cancer-risk-in-female-hypertensive-patients-evidence-from-observational-studies
#12
Yang Zhao, Qiongying Wang, Xu Zhao, Huitao Meng, Jing Yu
This systematic review aimed to evaluate the association between antihypertensive drugs and risk of breast cancer, and provide therapeutic implications for female hypertensive patients with different physical appearance. The prevalence of hypertension and female breast cancer is on the rise with age. It has been suggested that ARBs (angiotensin receptor blockers), ACEi (angiotensin-converting enzyme inhibitor), CCBs (calcium channel blockers), and BBs (beta-blockers) were widely used in hypertensive patients...
November 8, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/29106859/sleep-disordered-breathing-in-bardet-biedl-syndrome
#13
Jeffrey C Yeung, Umakanth A Katwa, Gi Soo Lee
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining characteristics. Consequently, the incidence of sleep disordered breathing (SDB) in this population is expected to be high. Due to its relative rarity, the nature of SDB in this population is poorly described. The objective of this study was to review a single institutional experience in the assessment and management of SDB in patients with BBS. METHODS: Retrospective chart review of tertiary care, academic pediatric hospital...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29105657/gait-training-after-spinal-cord-injury-safety-feasibility-and-gait-function-following-8-weeks-of-training-with-the-exoskeletons-from-ekso-bionics
#14
Carsten Bach Baunsgaard, Ulla Vig Nissen, Anne Katrin Brust, Angela Frotzler, Cornelia Ribeill, Yorck-Bernhard Kalke, Natacha León, Belén Gómez, Kersti Samuelsson, Wolfram Antepohl, Ulrika Holmström, Niklas Marklund, Thomas Glott, Arve Opheim, Jesus Benito, Narda Murillo, Janneke Nachtegaal, Willemijn Faber, Fin Biering-Sørensen
STUDY DESIGN: Prospective quasi-experimental study, pre- and post-design. OBJECTIVES: Assess safety, feasibility, training characteristics and changes in gait function for persons with spinal cord injury (SCI) using the robotic exoskeletons from Ekso Bionics. SETTING: Nine European rehabilitation centres. METHODS: Robotic exoskeleton gait training, three times weekly over 8 weeks. Time upright, time walking and steps in the device (training characteristics) were recorded longitudinally...
November 6, 2017: Spinal Cord
https://www.readbyqxmd.com/read/29105550/adherence-to-guidelines-in-patients-with-chronic-heart-failure-in-primary-health-care
#15
Maaike Giezeman, Mats Arne, Kersti Theander
OBJECTIVE: To describe adherence to international guidelines for chronic heart failure (CHF) management concerning diagnostics, pharmacological treatment and self-care behaviour in primary health care. DESIGN: A cross-sectional descriptive study of patients with CHF, using data obtained from medical records and a postal questionnaire. SETTING: Three primary health care centres in Sweden. SUBJECTS: Patients with a CHF diagnosis registered in their medical record...
November 6, 2017: Scandinavian Journal of Primary Health Care
https://www.readbyqxmd.com/read/29092649/evaluation-of-the-keeogo%C3%A2-dermoskeleton
#16
Jonathan C Mcleod, Susie Jm Ward, Audrey L Hicks
PURPOSE: (1) To determine the specific functional characteristics of individuals with neurological impairments that may predict successful use of Keeogo™ dermoskeleton and (2) to quantify the specific benefit Keeogo™ provides to a regular user of the device. METHODS: Thirteen individuals (seven males; six females; 52 ± 4.6 years old) with mobility impairments due to neurological disease or injury were recruited. Berg Balance Sale (BBS) score and Timed Up and Go (TUG) performance were used to identify baseline characteristics in participants...
November 2, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/29089752/beta-blocker-under-use-in-copd-patients
#17
Kuan Pin Lim, Sarah Loughrey, Michael Musk, Melanie Lavender, Jeremy P Wrobel
BACKGROUND: Cardiovascular (CVS) comorbidities are common in COPD and contribute significantly to morbidity and mortality, especially following acute exacerbations of COPD (AECOPD). Beta-blockers (BBs) are safe and effective in COPD patients, with demonstrated survival benefit following myocardial infarction. We sought to determine if BBs are under-prescribed in patients hospitalized with AECOPD. We also sought to determine inpatient rates of CVS and cerebrovascular complications, and their impact on patient outcomes...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29082783/impairments-in-spatiotemporal-gait-adaptation-during-obstacle-navigation-in-huntington-s-disease
#18
Naznine Anwar, Izelle Labuschagne, Katrina Simpson, Luke Smith, Nellie Georgiou-Karistianis
BACKGROUND: Navigating obstacles whilst walking might be associated with poorer balance and a higher risk of falling in individuals with symptomatic Huntington's disease (symp-HD). However, this issue has not been investigated within the literature. OBJECTIVE: A unique obstacle navigation experiment was designed to examine adaptive gait patterns in order to identify spatiotemporal gait characteristics that might be associated with poorer balance and a higher risk of falling in symp-HD...
October 1, 2017: Neurorehabilitation and Neural Repair
https://www.readbyqxmd.com/read/29067628/two-year-follow-up-of-fall-prediction-among-older-adults-in-an-independent-living-community
#19
Oz Zur, Yitshal Berner, Yair Ohel, Eli Carmeli
Adults over the age of 70 are at risk of falls. Early detection of risk of falls can suggest early interventions. In this study, we attempted to determine valid clinical tests that can differentiate older individuals who are at risk of falling. Older adults from an independent-living community volunteered to participate in this descriptive, cohort study. They were administered the Berg Balance Scale (BBS), Zur Balance Scale (ZBS); Head Shaking Nystagmus Head Impulse Test, Dynamic Visual Acuity, and the Hallpike maneuver for evaluating benign paroxysmal positional vertigo (BPPV); a questionnaire including sociodemographics and a health characteristics survey...
October 25, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29058295/effects-of-high-frequency-repetitive-transcranial-magnetic-stimulation-on-kcc2-expression-in-rats-with-spasticity-following-spinal-cord-injury
#20
Wei Gao, Li-Guo Yu, Ya-Li Liu, Mo Chen, Yi-Zhao Wang, Xiao-Lin Huang
The effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) on potassium- chloride cotransporter-2 (KCC2) protein expression following spinal cord injury (SCI) and the action mechanism were investigated. SCI models were established in SD rats. Five groups were set up randomly: normal control group, SCI 7-day (7D) model group, SCI 14-day (14D) model group, SCI-7D rTMS group and SCI-14D rTMS group (n=5 each). The rats in SCI rTMS groups were treated with 10 Hz rTMS from 8th day and 15th day after SCI respectively, once every day, 5 days every week, a total of 4 weeks...
October 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
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