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https://www.readbyqxmd.com/read/29691984/identification-of-novel-cyp4v2-genotypes-associated-with-bietti-crystalline-dystrophy-and-atypical-anterior-segment-phenotypes-in-spanish-patients
#1
Gerardo Pedro García-García, Magdalena Martínez-Rubio, Medina-Azahara Moya-Moya, Juan José Pérez-Santonja, Julio Escribano
PURPOSE: To identify the spectrum of disease-causing CYP4V2 variants in Spanish patients with clinically diagnosed Bietti crystalline dystrophy (BCD) over an 8-year period and to analyse the phenotype-genotype correlation of the identified variants. METHODS: Four unrelated Spanish probands with a clinical diagnosis of BCD were recruited. Ophthalmological examination included visual acuity (VA), slit lamp examination, in vivo corneal confocal microscopy, funduscopy and fluoresceinic angiography...
April 25, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29691976/time-together-a-nursing-intervention-in-psychiatric-inpatient-care-feasibility-and-effects
#2
Jenny Molin, Britt-Marie Lindgren, Ulla Hällgren Graneheim, Anders Ringnér
The facilitation of quality time between patients and staff in psychiatric inpatient care is useful to promote recovery and reduce stress experienced by staff. However, interventions are reported to be complex to implement and are poorly described in the literature. This multisite study aimed to evaluate the feasibility and effects of the nursing intervention Time Together, using mixed methods. Data consisted of notes from participant observations and logs to evaluate feasibility, and questionnaires to evaluate effects...
April 25, 2018: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/29691967/new-classification-of-maxillary-sinus-contours-and-its-relation-to-sinus-floor-elevation-surgery
#3
Lixuan Niu, Juan Wang, Huajie Yu, Lixin Qiu
BACKGROUND: It is complicated to select an appropriate sinus floor elevation and the procedure for sinus floor elevation lacks of consensus. Sinus contour plays an important role in choosing a surgery approach. But there are still no published articles revealing the influence of sinus contours to sinus floor elevation surgery. PURPOSE: We propose a new classification depending on sinus contours from cone-beam computed tomography (CBCT), analyze clinical characters of different types, and investigate the relationship between sinus contours and sinus floor elevation...
April 25, 2018: Clinical Implant Dentistry and related Research
https://www.readbyqxmd.com/read/29691945/altered-intra-and-inter-network-functional-coupling-of-resting-state-networks-associated-with-motor-dysfunction-in-stroke
#4
Zhiyong Zhao, Jie Wu, Mingxia Fan, Dazhi Yin, Chaozheng Tang, Jiayu Gong, Guojun Xu, Xinjie Gao, Qiurong Yu, Hao Yang, Limin Sun, Jie Jia
Motor functions are supported through functional integration across the extended motor system network. Individuals following stroke often show deficits on motor performance requiring coordination of multiple brain networks; however, the assessment of connectivity patterns after stroke was still unclear. This study aimed to investigate the changes in intra- and inter-network functional connectivity (FC) of multiple networks following stroke and further correlate FC with motor performance. Thirty-three left subcortical chronic stroke patients and 34 healthy controls underwent resting-state functional magnetic resonance imaging...
April 24, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29691944/developmental-performance-of-5-year-old-bulgarian-children-an-example-of-translational-neuroscience-in-practice
#5
Ralitsa Yordanova, Ivan Ivanov
RATIONALE, AIMS, AND OBJECTIVES: Developmental testing is essential for early recognition of the various developmental impairments. The tools used should be composed of items that are age specific, adapted, and standardized for the population they are applied to. The achievements of neurosciences, medicine, psychology, pedagogy, etc. are applied in the elaboration of a comprehensive examination tool that should screen all major areas of development. The key age of 5 years permits identification of almost all major developmental disabilities leaving time for therapeutic intervention before school entrance...
April 25, 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29691941/functional-connections-between-activated-and-deactivated-brain-regions-mediate-emotional-interference-during-externally-directed-cognition
#6
Simone Di Plinio, Francesca Ferri, Laura Marzetti, Gian Luca Romani, Georg Northoff, Vittorio Pizzella
Recent evidence shows that task-deactivations are functionally relevant for cognitive performance. Indeed, higher cognitive engagement has been associated with higher suppression of activity in task-deactivated brain regions - usually ascribed to the Default Mode Network (DMN). Moreover, a negative correlation between these regions and areas actively engaged by the task is associated with better performance. DMN regions show positive modulation during autobiographical, social, and emotional tasks. However, it is not clear how processing of emotional stimuli affects the interplay between the DMN and executive brain regions...
April 24, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29691939/genome-sequencing-reveals-a-novel-genetic-mechanism-underlying-dihydropyrimidine-dehydrogenase-deficiency-a-novel-missense-variant-c-1700g-a-and-a-large-intragenic-inversion-in-dpyd-spanning-intron-8-to-intron-12
#7
André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, Britt Drogemoller, Jerry Vockley, Dirk Maurer, Doreen Dobritzsch, Colin J Ross, Wyeth Wasserman, Rutger Meinsma, Lida Zoetekouw, Clara D M van Karnebeek
Dihydropyrimidine dehydrogenase (DPD) deficiency is associated with a variable clinical presentation. A family with three DPD deficient patients presented with unusual clinical phenotypes including pregnancy-induced symptoms, transient visual impairment, severe developmental delay, cortical blindness and delayed myelination in the brain. DPYD Sanger sequencing showed heterozygosity for the c.1905+1G > A mutation and a novel missense variant c.1700G > A (p.G456E). The recombinantly-expressed p.G456E DPD variant showed increased temperature lability probably caused by structural rearrangements within the DPD protein...
April 24, 2018: Human Mutation
https://www.readbyqxmd.com/read/29691931/five-year-incidence-and-progression-of-myopic-maculopathy-in-a-rural-chinese-adult-population-the-handan-eye-study
#8
Caixia Lin, Shi-Ming Li, Kyoko Ohno-Matsui, Bing Song Wang, Yu Xin Fang, Kai Cao, Li Qin Gao, Jie Hao, Ye Zhang, Jian Wu, Ning Li Wang
PURPOSE: To determine the cumulative five-year incidence and progression of myopic maculopathy in a rural Chinese adult population. METHODS: The Handan Eye Study was a population-based longitudinal study. In 2006, 6830 subjects aged 30+ years participated in this study (baseline). Five years later, 5394 subjects (follow-up rate: 85.3%) took part in the follow-up study. Participants had a detailed eye examination, including visual acuity, standardized refraction and fundus photography according to a similar protocol at both baseline and follow-up...
May 2018: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/29691930/through-focus-optical-characteristics-of-monofocal-and-bifocal-soft-contact-lenses-across-the-peripheral-visual-field
#9
Qiuzhi Ji, Young-Sik Yoo, Hira Alam, Geunyoung Yoon
PURPOSE: To characterise the impact of monofocal soft contact lens (SCL) and bifocal SCLs on refractive error, depth of focus (DoF) and orientation of blur in the peripheral visual field. METHODS: Monofocal and two bifocal SCLs, Acuvue Bifocal (AVB, Johnson & Johnson) and Misight Dual Focus (DF, CooperVision) with +2.0 D add power were modelled using a ray tracing program (ZEMAX) based on their power maps. These SCLs were placed onto the anterior corneal surface of the simulated Atchison myopic eye model to correct for -3...
May 2018: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/29691927/safety-and-efficacy-following-10-years-of-overnight-orthokeratology-for-myopia-control
#10
Takahiro Hiraoka, Yasuo Sekine, Fumiki Okamoto, Toshifumi Mihashi, Tetsuro Oshika
PURPOSE: To compare rates of myopia progression and adverse events between orthokeratology (OK) and soft contact lens (SCL) wearers over a 10-year period in schoolchildren. METHODS: Medical records of consecutive patients (≤16 years of age at baseline) who started OK for myopia correction and continued the treatment for 10 years were retrospectively reviewed. For the control group, patients who started using soft contact lenses (SCLs) for myopia correction and continued to use them for 10 years were also reviewed...
May 2018: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/29691925/experimental-myopia-increases-and-scleral-crosslinking-using-genipin-inhibits-cyclic-softening-in-the-tree-shrew-sclera
#11
Alexander M Levy, Massimo A Fazio, Rafael Grytz
PURPOSE: Myopia progression is thought to involve biomechanical weakening of the sclera, which leads to irreversible deformations and axial elongation of the eye. Scleral crosslinking has been proposed as a potential treatment option for myopia control by strengthening the mechanically weakened sclera. The biomechanical mechanism by which the sclera weakens during myopia and strengthens after crosslinking is not fully understood. Here, we assess the effect of lens-induced myopia and exogenous crosslinking using genipin on the inelastic mechanical properties of the tree shrew sclera measured by cyclic tensile tests...
May 2018: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/29691798/gpu-accelerated-browser-for-neuroimaging-genomics
#12
Bob Zigon, Huang Li, Xiaohui Yao, Shiaofen Fang, Mohammad Al Hasan, Jingwen Yan, Jason H Moore, Andrew J Saykin, Li Shen
Neuroimaging genomics is an emerging field that provides exciting opportunities to understand the genetic basis of brain structure and function. The unprecedented scale and complexity of the imaging and genomics data, however, have presented critical computational bottlenecks. In this work we present our initial efforts towards building an interactive visual exploratory system for mining big data in neuroimaging genomics. A GPU accelerated browsing tool for neuroimaging genomics is created that implements the ANOVA algorithm for single nucleotide polymorphism (SNP) based analysis and the VEGAS algorithm for gene-based analysis, and executes them at interactive rates...
April 25, 2018: Neuroinformatics
https://www.readbyqxmd.com/read/29691771/neuropathic-pain-is-it-an-underestimated-symptom-in-systemic-sclerosis
#13
Nihan Cuzdan, Ipek Turk, Tunay Sarpel, Eren Erken, Zeliha Nazan Alparslan
Pain is one of the most common symptoms in systemic sclerosis (SSc) patients, yet not considered in the assessment of disease severity. This study aimed to investigate the frequency of neuropathic pain (NP) and to evaluate its interference with the quality of life (QoL) in SSc patients. Diffuse and Limited SSc patients diagnosed by American College of Rheumatology 2013 criteria were included in the study. Pain was evaluated with Visual Analogue Scale (VAS); presence of NP was screened with The Leeds Assessment of Neuropathic Symptoms and Signs (LANNS) questionnaire; disease activity was evaluated with modified Medsger Severity Scale (MSS) and QoL with short-form 36 (SF-36)...
April 24, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29691764/remember-to-blink-reduced-attentional-blink-following-instructions-to-forget
#14
Tracy L Taylor
This study used rapid serial visual presentation (RSVP) to determine whether, in an item-method directed forgetting task, study word processing ends earlier for forget words than for remember words. The critical manipulation required participants to monitor an RSVP stream of black nonsense strings in which a single blue word was embedded. The next item to follow the word was a string of red fs that instructed the participant to forget the word or green rs that instructed the participant to remember the word...
April 24, 2018: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/29691762/object-width-modulates-object-based-attentional-selection
#15
Joseph C Nah, Marco Neppi-Modona, Lars Strother, Marlene Behrmann, Sarah Shomstein
Visual input typically includes a myriad of objects, some of which are selected for further processing. While these objects vary in shape and size, most evidence supporting object-based guidance of attention is drawn from paradigms employing two identical objects. Importantly, object size is a readily perceived stimulus dimension, and whether it modulates the distribution of attention remains an open question. Across four experiments, the size of the objects in the display was manipulated in a modified version of the two-rectangle paradigm...
April 24, 2018: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/29691705/retinal-dysfunction-in-a-presymptomatic-patient-with-huntington-s-disease
#16
Jonelle Knapp, Dean A VanNasdale, Keith Ramsey, Julie Racine
PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD...
April 24, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29691650/first-unitary-then-divided-the-temporal-dynamics-of-dividing-attention
#17
Lisa N Jefferies, Joseph B Witt
Whether focused visual attention can be divided has been the topic of much investigation, and there is a compelling body of evidence showing that, at least under certain conditions, attention can be divided and deployed as two independent foci. Three experiments were conducted to examine whether attention can be deployed in divided form from the outset, or whether it is first deployed as a unitary focus before being divided. To test this, we adapted the methodology of Jefferies, Enns, and Di Lollo (Journal of Experimental Psychology: Human Perception and Performance 40: 465, 2014), who used a dual-stream Attentional Blink paradigm and two letter-pair targets...
April 24, 2018: Psychological Research
https://www.readbyqxmd.com/read/29691613/lesion-size-measurement-in-femoral-head-necrosis
#18
Marvin E Steinberg, Seong C Oh, Viviane Khoury, Jayaram K Udupa, David R Steinberg
BACKGROUND: Management of patients with early stages of osteonecrosis of the femoral head remains controversial. Uniform use of an effective method of evaluation and classification, including both stage and lesion size, would allow for comparison and would significantly improve treatment of patients. There is no consensus on how best to determine lesion size. The purpose of this study was to evaluate and compare accuracy and ease of use of different techniques for determining the size of femoral head lesions...
April 25, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29691597/preoperative-digital-subtraction-angiography-in-incidental-unruptured-intracranial-aneurysms-how-much-is-too-much
#19
Moriz Herzberg, Robert Forbrig, Christian Schichor, Hartmut Brückmann, Franziska Dorn
PURPOSE: Digital subtraction angiography (DSA) is deemed necessary to precisely visualize intracranial aneurysms and define individual treatment strategies. In patients with unruptured intracranial aneurysms (UIA) who were diagnosed by MRI, a four-vessel DSA is usually performed to detect additional aneurysms. This study aimed to evaluate whether the evaluation of all vessels beyond the aneurysm-harboring artery is really necessary. MATERIAL AND METHODS: Patients with an UIA that was detected on MRA (TOF/ceMRA) were prospectively included...
April 24, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29691564/-survey-on-dental-caries-status-of-migrant-children-aged-6-12-years-in-minhang-district-of-shanghai
#20
Xiao-Ming Xu, Hong-Yan Shi, Cong-Hua Li, Li Nie, Lin Feng, Yan Qin
PURPOSE: To investigate the prevalence of dental caries among migrant children aged 6-12 years in Minhang district of Shanghai, so as to provide some basic data for children health care. METHODS: Ten thousand and eleven school children in 8 primary schools of Minhang district of Shanghai were investigated by cluster random sampling. Visual examination combined with probe inspection was used to diagnose caries, and then rate of caries and DMFT (decayed,missing and filled teeth) were calculated...
December 2017: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
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