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Congenitally blind

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https://read.qxmd.com/read/30900268/tolerability-and-effects-of-the-use-of-energy-enriched-infant-formula-after-congenital-heart-surgery-a-randomized-controlled-trial
#1
Vanessa Adriana Scheeffer, Claudia Pires Ricachinevsky, Alessandra Thaís Freitas, Francis Salamon, Flavia Feijó Nunes Rodrigues, Tamires Goldani Brondani, Andrea Tomasi Sutil, Cristina Helena Targa Ferreira, Ursula da Silveira Matte, Themis Reverbel da Silveira
BACKGROUND: Undernutrition is a common problem among children with congenital heart disease (CHD) and may lead to poorer surgical outcomes. A higher intake of energy during the postoperative period of CHD surgery seems to be associated with better outcomes. This study aimed to investigate the effect of the use of energy-enriched formula (EE-formula) compared with normocaloric formula during 30 days after CHD surgery. METHODS: A randomized controlled trial with patients undergoing heart surgery in a tertiary hospital in southern Brazil from March 2017 to December 2017 was performed...
March 22, 2019: JPEN. Journal of Parenteral and Enteral Nutrition
https://read.qxmd.com/read/30894149/evaluation-of-eye-related-parameters-and-adverse-events-of-rigid-gas-permeable-contact-lens-and-spectacles-correction-in-infants-with-monocular-aphakia-after-congenital-cataract-surgery-a-retrospective-clinical-study
#2
Junjue Chen, Ping Sun, Yan Wei, Xiaoli Kang
BACKGROUND: Congenital cataract is currently one of the leading blindness-causing eye diseases in children. Surgical treatment only opens the visual pathway for children. The postoperative recovery of visual function is also dependent on effective optical correction and visual function training. In this study, we analyzed the changes in eye-related parameters, adverse events and the annual cost of rigid gas permeable contact lens (RGPCL) and spectacles correction in infants with monocular aphakia after congenital cataract surgery...
March 20, 2019: BMC Ophthalmology
https://read.qxmd.com/read/30894134/a-novel-mutation-in-the-oar-domain-of-pitx3-associated-with-congenital-posterior-subcapsular-cataract
#3
Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu
BACKGROUND: Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract. METHODS: The proband and her parents underwent full ophthalmological examinations. DNA was extracted from the participants' peripheral venous blood. The mutation was identified via panel-based next-generation sequencing (NGS) and was validated via Sanger sequencing...
March 20, 2019: BMC Medical Genetics
https://read.qxmd.com/read/30878728/auditory-cues-behind-congenitally-blind-subjects-improve-their-balance-control-in-bipedal-upright-posture
#4
Rime Sioud, Riadh Khalifa, Nicolas Houel
BACKGROUND: Congenitally blind subjects developed postural adaptations improving somatosensory and vestibular systems to maintain upright stability and auditory skills to orient them in environment. However, the influence of auditory cues on upright stability in congenitally blind subjects stays unknown. RESEARCH QUESTION: The aim of this study is to define the influence of an auditory cue in congenitally blind subjects back space on their balance posture. METHODS: Eleven sighted subjects and eleven congenitally blind subjects performed upright bipedal and unipedal quiet stances on a force plate with two conditions of auditory cue played by a loudspeaker placed 2 m behind them...
March 7, 2019: Gait & Posture
https://read.qxmd.com/read/30871792/insertion-of-a-preloaded-monoka%C3%A2-stent-for-congenital-nasolacrimal-obstruction-intraoperative-observations-a-preliminary-study
#5
B Fayet, E Racy, J Katowitz, W Katowitz, J-M Ruban, D Brémond-Gignac
STUDY OBJECTIVE: To study the intraoperative deployment of a pre-loaded probe for a "pushed" monocanalicular nasolacrimal intubation. STUDY DESIGN: Non-randomized study of consecutive cases. MATERIALS AND METHODS: Description: A classical Monoka™ silicone stent with the silicone tube attached at right angles to the punctal plug is contained entirely inside an introducer connected to a piston. Insertion: The procedure begins with intubation of the nasolacrimal duct with the metallic introducer...
March 11, 2019: Journal Français D'ophtalmologie
https://read.qxmd.com/read/30870047/a-high-prevalence-of-biallelic-rpe65-mutations-in-costa-rican-children-with-leber-congenital-amaurosis-and-early-onset-retinal-dystrophy
#6
W Bailey Glen, M Millicent W Peterseim, Ramses Badilla, Iya Znoyko, Andre Bourg, Robert Wilson, Gary Hardiman, Daynna Wolff, Joaquin Martinez
BACKGROUND: Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD), are primary causes of inherited childhood blindness. Both are autosomal recessive diseases, with mutations in more than 25 genes explaining approximately ~70% of cases. However, the genetic cause for many cases remains unclear. Sequencing studies from genetically isolated populations with increased prevalence of a disorder has proven useful for rare variant studies, making Costa Rica an ideal place to study LCA/EORD genetics...
March 14, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30868799/aniridia-a-rare-manifestation-of-congenital-rubella-syndrome
#7
Ali Shabbir Hussain, Syed Rehan Ali, Nadia Mohammad, Nabiha Ali, Shakeel Ahmed, Tauseef Ahmad
A foetus affected by a congenital rubella infection can develop congenital rubella syndrome (CRS). Aniridia is the absence of iris, rarely been described in literature in association with CRS, can easily be overlooked, leading to complications e.g. glaucoma and blindness later in life. We report a case of a neonate with CRS and aniridia presenting at a tertiary care hospital.
January 2019: Journal of Ayub Medical College, Abbottabad: JAMC
https://read.qxmd.com/read/30859028/effect-of-eyelid-crease-formation-on-aesthetic-outcomes-post-frontalis-suspension-for-unilateral-ptosis
#8
Debraj Shome, Shilpa Taneja Mittal, Rinky Kapoor
Background: The eyelid crease plays a very important role in determining eyelid symmetry. This study was performed to compare the cosmetic results post silicone rod frontalis suspension surgery, performed with and without eyelid crease formation, for correction of unilateral, congenital ptosis. Methods: Prospective, interventional study. One hundred patients with unilateral, congenital ptosis, with poor levator muscle action, operated on by a single facial plastic surgeon, over 5-year duration (2011-2016)...
January 2019: Plastic and Reconstructive Surgery. Global Open
https://read.qxmd.com/read/30853565/working-memory-training-integrates-visual-cortex-into-beta-band-networks-in-congenitally-blind-individuals
#9
Johanna M Rimmele, Helene Gudi-Mindermann, Guido Nolte, Brigitte Röder, Andreas K Engel
Congenitally blind individuals have been shown to activate the visual cortex during non-visual tasks. The neuronal mechanisms of such cross-modal activation are not fully understood. Here, we used an auditory working memory training paradigm in congenitally blind and in sighted adults. We hypothesized that the visual cortex gets integrated into auditory working memory networks, after these networks have been challenged by training. The spectral profile of functional networks was investigated which mediate cross-modal reorganization following visual deprivation...
March 7, 2019: NeuroImage
https://read.qxmd.com/read/30851993/the-world-heart-federation-criteria-raise-the-threshold-of-diagnosis-for-mild-rheumatic-heart-disease-three-reviewers-are-better-than-one
#10
Nicola Culliford-Semmens, Ross Nicholson, Elizabeth Tilton, John Stirling, Karishma Sidhu, Rachel Webb, Nigel Wilson
BACKGROUND: The World Heart Federation (WHF) criteria, published in 2012, provided an evidence-based guideline for the minimal diagnosis of echocardiographically-detected RHD. Primary aim of the study was to determine whether use of the WHF criteria altered the threshold for the diagnosis of echocardiographically-detected RHD compared with the previous WHO/NIH criteria. A secondary aim was to explore the utility of a three reviewer reporting system compared to a single or two reviewer reporting structure...
March 2, 2019: International Journal of Cardiology
https://read.qxmd.com/read/30847219/mizuo-nakamura-phenomenon-in-an-indian-male
#11
Rohit Agarwal, Koushik Tripathy, Gopal Bandyopadhyay, Koushik Basu
The authors present a 20-year-old myopic male who showed golden color of fundus (Mizuo-Nakamura phenomenon) in light and normal color after long dark adaptation. This phenomenon is associated with an abnormally slow dark adaptation and is typically noted in Oguchi disease, a variant of congenital stationary night blindness.
February 2019: Clinical Case Reports
https://read.qxmd.com/read/30825406/where-are-the-missing-gene-defects-in-inherited-retinal-disorders-intronic-and-synonymous-variants-contribute-at-least-to-4-of-cacna1f-mediated-inherited-retinal-disorders
#12
Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, D Milicevic, Robin Veaux, Aurore Tourville, Axelle Zoumba, Imene Seneina, Marine Foussard, Camille Andrieu, Markus Preising, Steven Blanchard, Jean-Paul Saraiva, Lilia Mesrob, Edith Le Floch, Claire Jubin, Vincent Meyer, Hélène Blanché, Anne Boland, Jean-François Deleuze, Dror Sharon, Isabelle Drumare, Sabine Defoort-Dhellemmes, Elfride De Baere E, Bart P Leroy, Xavier Zanlonghi, Ingele Casteels, Thomy J de Ravel, Irina Balikova, Rob Koenekoop, Fanny Laffargue, Rebecca McLean, Irene Gottlob, Dominique Bonneau, Daniel F Schordert, Francis Munier, Martin McKibbin, Katrina Prescott, Valerie Pelletier, Hélène Dollfuss, Yaumara Perdomo-Trujillo, Céline Faure, Charlotte Reiff, Bernd Wissinger, Isabelle Meunier, Susanne Kohl, Eyal Banin, Eberhart Zrenner, Bernhard Jurklies, Birgit Lorenz, José-Alain Sahel, Isabelle Audo
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~ 260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases the gene defect is unknown. These cases may be explained by novel gene defects, by overlooked copy number variations, by variants in intronic or promoter regions or represent synonymous variants of known genes contributing to the dysfunction of the respective proteins. Patients with one subgroup of IRD, namely incomplete congenital stationary night blindness (icCSNB) show a very specific phenotype...
March 2, 2019: Human Mutation
https://read.qxmd.com/read/30821845/epidural-analgesia-for-adults-undergoing-cardiac-surgery-with-or-without-cardiopulmonary-bypass
#13
REVIEW
Joanne Guay, Sandra Kopp
BACKGROUND: General anaesthesia combined with epidural analgesia may have a beneficial effect on clinical outcomes. However, use of epidural analgesia for cardiac surgery is controversial due to a theoretical increased risk of epidural haematoma associated with systemic heparinization. This review was published in 2013, and it was updated in 2019. OBJECTIVES: To determine the impact of perioperative epidural analgesia in adults undergoing cardiac surgery, with or without cardiopulmonary bypass, on perioperative mortality and cardiac, pulmonary, or neurological morbidity...
March 1, 2019: Cochrane Database of Systematic Reviews
https://read.qxmd.com/read/30815772/blindness-and-autism-parents-perspectives-on-diagnostic-challenges-support-needs-and-support-provision
#14
Kim de Verdier, Elisabeth Fernell, Ulla Ek
Autism spectrum disorder (ASD), with or without intellectual disability (ID), is common in children with congenital blindness. This complex combination of disabilities often involves many challenges for the family. This study explored parents' experiences of having a child with blindness and ASD (with or without ID), their support needs and experiences of the support provided. Interviews with eight parents, representing six families, were performed. The parents emphasized that assessment and diagnostic procedures must be performed by professionals with expertise in blind children's development, and ASD...
February 27, 2019: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/30809186/chromatic-pupillometry-methods-for-assessing-photoreceptor-health-in-retinal-and-optic-nerve-diseases
#15
REVIEW
A V Rukmini, Dan Milea, Joshua J Gooley
The pupillary light reflex is mediated by melanopsin-containing intrinsically-photosensitive retinal ganglion cells (ipRGCs), which also receive input from rods and cones. Melanopsin-dependent pupillary light responses are short-wavelength sensitive, have a higher threshold of activation, and are much slower to activate and de-activate compared with rod/cone-mediated responses. Given that rod/cone photoreceptors and melanopsin differ in their response properties, light stimuli can be designed to stimulate preferentially each of the different photoreceptor types, providing a read-out of their function...
2019: Frontiers in Neurology
https://read.qxmd.com/read/30783971/use-of-aav-vectors-for-crispr-mediated-in-vivo-genome-editing-in-the-retina
#16
Wenhan Yu, Zhijian Wu
Degenerative retinal diseases such as retinitis pigmentosa (RP) and Leber's congenital amaurosis (LCA) may lead to blindness without effective treatment. With the rapid advancement of the CRISPR/Cas9 genome editing technology, in vivo application of CRISPR/Cas9 holds immense potential for treatment of these diseases. Adeno-associated virus (AAV) vectors are an ideal gene transfer tool for delivery of CRISPR components to the retina. Here, we describe a protocol for utilizing an AAV-based CRISPR/Cas9 system for in vivo genome editing in the retina...
2019: Methods in Molecular Biology
https://read.qxmd.com/read/30782877/improving-neurodevelopmental-outcomes-in-children-with-congenital-heart-disease-protocol-for-a-randomised-controlled-trial-of-working-memory-training
#17
Johanna Calderon, David C Bellinger, Catherine Hartigan, Alison Lord, Christian Stopp, David Wypij, Jane W Newburger
INTRODUCTION: Executive function (EF) impairments are among the most prevalent neurodevelopmental morbidities in youth with congenital heart disease (CHD). To date, no studies have investigated the efficacy of cognitive interventions to improve EF outcomes in children with CHD. METHODS AND ANALYSIS: This is a single-centre, single-blinded, two-arm randomised controlled trial to test the efficacy of Cogmed Working Memory Training (Cogmed) versus standard of care in children with CHD after open-heart surgery in infancy...
February 19, 2019: BMJ Open
https://read.qxmd.com/read/30776296/recombinant-human-granulocyte-colony-stimulating-factor-in-women-with-unexplained-recurrent-pregnancy-losses-a-randomized-clinical-trial
#18
A Eapen, M Joing, P Kwon, J Tong, E Maneta, C De Santo, F Mussai, D Lissauer, D Carter
STUDY QUESTION: Does administration of recombinant human granulocyte colony stimulating factor (rhG-CSF) in the first trimester improve pregnancy outcomes, among women with a history of unexplained recurrent pregnancy loss? SUMMARY ANSWER: rhG-CSF administered in the first trimester of pregnancy did not improve outcomes among women with a history of unexplained recurrent pregnancy loss. WHAT IS KNOWN ALREADY: The only previous randomized controlled study of granulocyte colony stimulating factor in recurrent miscarriage in 68 women with unexplained primary recurrent miscarriage found a statistically significant reduction in miscarriage and improvement in live birth rates...
March 1, 2019: Human Reproduction
https://read.qxmd.com/read/30769148/structure-of-g57w-mutant-of-human-%C3%AE-s-crystallin-and-its-involvement-in-cataract-formation
#19
Khandekar Jishan Bari, Shrikant Sharma, Kandala V R Chary
A recently identified mutant of human γS-crystallin, G57W is associated with dominant congenital cataracts, the familial determinate of childhood blindness worldwide. To investigate the structural and functional changes that mediate the effect of this cataract-related mutant to compromise eye lens transparency and cause lens opacification in children, we recently reported complete sequence-specific resonance assignments of γS-G57W using a suite of heteronuclear NMR experiments. As a follow up, we have determined the 3D structure of γS-G57W and studied its conformational dynamics by solution NMR spectroscopy...
February 12, 2019: Journal of Structural Biology
https://read.qxmd.com/read/30755088/how-the-blind-hear-colour
#20
Armin Saysani
Crossmodal correspondences between seemingly independent sensory modalities are often observed in normal participants. For instance, colours commonly map consistently onto pure tones. In this study, we investigated colour-tone mapping in both normal trichromats and in people with congenital blindness. Participants were asked to match tones of differing pitch to named colours. In both cases, the tones selected varied consistently with the colour. The blind responses were similar to those of the trichromats, except in the case of red and green; the blind did not differentiate these colours, whereas the trichromats associated red with a higher tone and green with a lower tone...
February 12, 2019: Perception
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