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https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#1
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28337090/is-the-child-to-child-approach-useful-in-improving-uptake-of-eye-care-services-in-difficult-to-reach-rural-communities-experience-from-southwest-nigeria
#2
O O Ayorinde, G V S Murthy, O O Akinyemi
BACKGROUND: To determine if primary school pupils aged 9-14 years can be satisfactorily trained, using the child-to- parent approach, to assess vision, refer and motivate people to attend screening eye camps. METHOD: Ninety pupils aged 9-14 years attending two purposively-selected primary schools were selected by simple random sampling. Using the child-to-parent approach and Snellens 6/60 illiterate E-chart, participants had a three-day knowledge and skill-based training followed by 2 days of community-based vision assessment and referral of those assessed...
December 2016: Annals of Ibadan Postgraduate Medicine
https://www.readbyqxmd.com/read/28336401/performance-of-the-spot-vision-screener-in-children-younger-than-three-years-of-age
#3
Blake D Forcina, M Millicent Peterseim, M Edward Wilson, Edward W Cheeseman, Samuel Feldman, Amanda L Marzolf, Bethany J Wolf, Rupal H Trivedi
PURPOSE: To evaluate the use of the Spot Vision Screener (Spot; Welch Allyn, Skaneateles Falls, NY) for detection of amblyopia risk factors in children aged 6 months to 3 years, as defined by the 2013 guidelines of the American Association for Pediatric Ophthalmology and Strabismus. DESIGN: Reliability analysis METHODS: In this study, children seen from 01 June 2012 to 30 April 2016 were tested with the Spot during a routine visit. Enrolled children underwent a comprehensive eye examination including cycloplegic refraction and sensorimotor testing within six months of the testing date by a pediatric ophthalmologist masked to the Spot results...
March 20, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28330905/secretogranin-iii-as-a-disease-associated-ligand-for-antiangiogenic-therapy-of-diabetic-retinopathy
#4
Michelle E LeBlanc, Weiwen Wang, Xiuping Chen, Nora B Caberoy, Feiye Guo, Chen Shen, Yanli Ji, Hong Tian, Hui Wang, Rui Chen, Wei Li
Diabetic retinopathy (DR) is a leading cause of vision loss with retinal vascular leakage and/or neovascularization. Current antiangiogenic therapy against vascular endothelial growth factor (VEGF) has limited efficacy. In this study, we applied a new technology of comparative ligandomics to diabetic and control mice for the differential mapping of disease-related endothelial ligands. Secretogranin III (Scg3) was discovered as a novel disease-associated ligand with selective binding and angiogenic activity in diabetic but not healthy vessels...
March 22, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#5
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28320348/methods-for-conceptualising-visual-ability-as-a-measurable-construct-in-children-with-cerebral-palsy
#6
Belinda Deramore Denver, Margareta Adolfsson, Elspeth Froude, Peter Rosenbaum, Christine Imms
BACKGROUND: Vision influences functioning and disability of children with cerebral palsy, so there is a growing need for psychometrically robust tools to advance assessment of children's vision abilities in clinical practice and research. Vision is a complex construct, and in the absence of clarity about this construct it is challenging to know whether valid, reliable measures exist. This study reports a method for conceptualising 'visual ability' as a measurable construct. METHODS: Using the items from 19 assessment tools previously identified in a systematic review, this study used a two-phase process: first, deductive content analysis linked items to the International Classification of Functioning, Disability and Health - Child and Youth version (ICF-CY), and second, vision-specific 'Activity'-level items were explored using inductive thematic analysis...
March 21, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/28318725/-comparison-of-refraction-with-or-without-cycloplegia-using-retinomax-%C3%A2-or-plusoptix-%C3%A2-devices
#7
E Bui Quoc, S Guilmin Crepon, S Tinguely, G Lavallee, G Busquet, M Angot, L Vera
PURPOSE: To evaluate the refraction in children measured with Plusoptix(®) without cycloplegia vs. Retinomax(®) apparatus with cycloplegia. PATIENTS AND METHODS: Measure of refraction with Plusoptix(®) in children>1year old referred for systematic vision screening, then measurement after cycloplegia with cyclopentolate by the Retinomax(®) device. RESULTS: Thirty-three children were included, i.e. 66eyes. Mean age was 40.7months (minimum 12; maximum 114)...
March 16, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28318153/-dental-alveolar-bone-and-dental-arch-remodeling-in-children-orthodontic-diagnosis-and-treatments-based-on-individual-child-arch-development
#8
Li Xiaobing
The etiology of malocclusions basically involves both congenital and environmental factors. Malocclusion is the result of the abnormal development of the orofacial complex (including tooth, dental alveolar bone, upper and lower jaws). Early orthodontic interceptive treatments involve the elimination of all congenital and environmental factors that contribute to the malformation of the orofacial complex, as well as interrupt the deviated development of the orofacial complex and the occlusion. Early orthodontic interceptive treatments mainly aim to use children's growth potential to correct abnormal developments of occlusions and orthodontically treat malocclusions more efficiently...
December 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28314831/childhood-onset-leber-hereditary-optic-neuropathy
#9
Anna Majander, Richard Bowman, Joanna Poulton, Richard J Antcliff, M Ashwin Reddy, Michel Michaelides, Andrew R Webster, Patrick F Chinnery, Marcela Votruba, Anthony T Moore, Patrick Yu-Wai-Man
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS: Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included if visual loss occurred at the age of 12 years or younger with a confirmed pathogenic mitochondrial DNA mutation: m...
March 17, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28300737/setting-up-of-a-cerebral-visual-impairment-clinic-for-children-challenges-and-future-developments
#10
Swetha Sara Philip
AIM: The aim of this study is to describe the setting up of a cerebral visual impairment (CVI) clinic in a tertiary care hospital in South India and to describe the spectrum of cases seen. MATERIALS AND METHODS: The CVI clinic, set up in February 2011, receives interdisciplinary input from a core team involving a pediatrician, neurologist, psychiatrist, occupational therapist, pediatric ophthalmologist, and an optometrist. All children, <18 years of age, with cerebral palsy (CP), learning disability, autism, neurodegenerative diseases, and brain trauma are referred to the clinic for functional vision assessment and opinion for further management...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28298635/novel-mutations-in-crygc-are-associated-with-congenital-cataracts-in-chinese-families
#11
Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10-25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28296722/design-methodology-and-baseline-data-of-the-personalized-addition-lenses-clinical-trial-pact
#12
RANDOMIZED CONTROLLED TRIAL
Xinping Yu, Binjun Zhang, Jinhua Bao, Junxiao Zhang, Ge Wu, Jinling Xu, Jingwei Zheng, Björn Drobe, Hao Chen
BACKGROUND: The aim of this study was to describe the design, methods, and baseline characteristics of children enrolled in the Personalized Addition lenses Clinical Trial (PACT). PACT aims to test the myopia control efficacy of progressive addition lenses (PALs) with personalized addition values compared with standard (+2.00 D) addition PALs and single vision lenses (SVLs). METHODS: PACT is a randomized, controlled, double-masked clinical trial. Two hundred eleven myopic Chinese children (7-12 years) were enrolled and randomized into 1 of the 3 following groups: personalized addition PALs; +2...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295226/lacosamide-in-status-epilepticus-systematic-review-of-current-evidence
#13
REVIEW
Adam Strzelczyk, Johann Philipp Zöllner, Laurent M Willems, Julie Jost, Esther Paule, Susanne Schubert-Bast, Felix Rosenow, Sebastian Bauer
OBJECTIVE: The intravenous formulation of lacosamide (LCM) and its good overall tolerability and safety favor the use in status epilepticus (SE). The aim of this systematic review was to identify and evaluate studies reporting on the use of LCM in SE. METHODS: We performed a systematic literature search of electronic databases using a combined search strategy from 2008 until October 2016. Using a standardized assessment form, information on the study design, methodologic framework, data sources, efficacy, and adverse events attributed to LCM were extracted from each publication and systematically reported...
March 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28295206/molecular-clinical-and-neuropsychological-study-in-31-patients-with-kabuki-syndrome-and-kmt2d-mutations
#14
Natacha Lehman, Anne Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, Yline Capri, Annick Toutain, Sylvie Odent, Myriam Mikaty, Cyril Goizet, Emmanuelle Taupiac, Marie Line Jacquemont, Elodie Sanchez, Elise Schaefer, Vincent Gatinois, Laurence Faivre, Delphine Minot, Honorine Kayirangwa, Kim-Hanh Le Qang Sang, Nathalie Boddaert, Sophie Bayard, Didier Lacombe, Sébastien Moutton, Isabelle Touitou, Marlène Rio, Jeanne Amiel, Stanislas Lyonnet, Damien Sanlaville, Marie Christine Picot, David Geneviève
Kabuki syndrome (KS - OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with Kabuki syndrome and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI)...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28293777/engaging-parents-in-preventive-interventions-for-young-children-working-with-cultural-diversity-within-low-income-urban-neighborhoods
#15
Spring Dawson-McClure, Esther J Calzada, Laurie M Brotman
A robust literature documents the impact of poverty on child development and lifelong health, well-being and productivity. Racial and ethnic minority children continue to bear the burden of poverty disproportionately. Evidence-based parenting interventions in early childhood have the potential to attenuate risk attributable to poverty and stress. To reduce racial, ethnic, and socioeconomic disparities in the USA, parenting interventions must be accessible, engaging, and effective for low-income families of color living in large urban centers...
March 14, 2017: Prevention Science: the Official Journal of the Society for Prevention Research
https://www.readbyqxmd.com/read/28291200/-stabilizing-effect-of-orthokeratology-lenses-ten-year-follow-up-results
#16
E P Tarutta, T Yu Verzhanskaya
The global prevalence of myopia in adults varies between 20-50% in Europe and the US and 60-90% in Asian countries. According to WHO, myopia is one of the five leading causes of blindness and low vision in the world. Prevention or deceleration of myopia progression is an important public health problem. In recent years, orthokeratology (ortho-k) contact lenses worn at night have been found effective in slowing down the progression of myopia, however, the follow-up period in related studies is no longer than five years...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28285324/novel-therapeutics-for-stargardt-disease
#17
REVIEW
Louise J Lu, Ji Liu, Ron A Adelman
DESCRIPTION OF SITUATION: Stargardt disease, an inherited macular dystrophy caused by mutations in the ABCA4 gene encoding a retinal transporter protein, is the most prevalent form of macular degeneration in children. Patients with Stargardt disease develop severe vision loss within their first or second decades of life, which progresses to irreversible decreased visual acuity in almost all cases. Presently, there are no standard treatments for Stargardt disease. However, encouraging progress has been made in the development of innovative approaches to preventing vision loss in Stargardt patients...
March 11, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28282701/vitamin-a-supplementation-for-preventing-morbidity-and-mortality-in-children-from-six-months-to-five-years-of-age
#18
REVIEW
Aamer Imdad, Evan Mayo-Wilson, Kurt Herzer, Zulfiqar A Bhutta
BACKGROUND: Vitamin A deficiency (VAD) is a major public health problem in low- and middle-income countries, affecting 190 million children under five years of age and leading to many adverse health consequences, including death. Based on prior evidence and a previous version of this review, the World Health Organization has continued to recommend vitamin A supplementation for children aged 6 to 59 months. There are new data available from recently published randomised trials since the previous publication of this review in 2010, and this update incorporates this information and reviews the evidence...
March 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28279679/preventive-healthcare-for-young-children-a-systematic-review-of-interventions-in-primary-care
#19
REVIEW
Karyn E Alexander, Bianca Brijnath, Ruby Biezen, Kerry Hampton, Danielle Mazza
High rates of preventable health problems amongst children in economically developed countries have prompted governments to seek pathways for early intervention. We systematically reviewed the literature to discover what primary care-targeted interventions increased preventive healthcare (e.g. review child development, growth, vision screening, social-emotional health) for preschool children, excluding vaccinations. MEDLINE, EMBASE, CINAHL, and Cochrane databases were searched for published intervention studies, between years 2000 and 2014, which reflected preventive health activities for preschool children, delivered by health practitioners...
March 6, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28273551/the-importance-of-spatial-orientation-and-knowledge-of-traffic-signs-for-children-s-traffic-safety
#20
Aleksandar Trifunović, Dalibor Pešić, Svetlana Čičević, Boris Antić
Pre-school children, as well as children from lower grades in primary school, who although rarely, completely independently participate in traffic, represent a vulnerable population from the standpoint of traffic safety. The greatest number of children were injured or killed in road traffic crashes on their way from home to kindergarten or school. Mostly due to lack of experience, children's behavior is confusing and often reckless and hasty. Safe behavior in the traffic environment demands certain cognitive skills...
March 5, 2017: Accident; Analysis and Prevention
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