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https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#1
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#2
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28620156/the-effect-of-lasik-surgery-on-myopic-anisometropes-sensory-eye-dominance
#3
Lixia Feng, Huimin Lin, Yao Chen, Jiafeng Wang, Yonghua Wang, Rongfeng Liao, Jiawei Zhou, Robert F Hess
Lasik is a common surgery for treating anisometropia. In this study, we asked a specific question: what's the effect of Lasik surgery on anisometropes' sensory eye dominance ? Fifteen myopic anisometropes (mean age: 23 ± 6.9 years old; 6 females) participated in our experiment. We quantitatively measured participants' sensory eye dominance before and after the Lasik surgery using a binocular phase combination paradigm. We found no significant change of sensory eye dominance within 16 weeks (measured between 8 to 96 days, for one or two repetitions) after the surgery (t(14) = -1...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28611601/lack-of-responsiveness-during-the-onset-and-offset-of-sevoflurane-anesthesia-is-associated-with-decreased-awake-alpha-oscillation-power
#4
Kara J Pavone, Lijuan Su, Lei Gao, Ersne Eromo, Rafael Vazquez, James Rhee, Lauren E Hobbs, Reine Ibala, Gizem Demircioglu, Patrick L Purdon, Emery N Brown, Oluwaseun Akeju
Anesthetic drugs are typically administered to induce altered states of arousal that range from sedation to general anesthesia (GA). Systems neuroscience studies are currently being used to investigate the neural circuit mechanisms of anesthesia-induced altered arousal states. These studies suggest that by disrupting the oscillatory dynamics that are associated with arousal states, anesthesia-induced oscillations are a putative mechanism through which anesthetic drugs produce altered states of arousal. However, an empirical clinical observation is that even at relatively stable anesthetic doses, patients are sometimes intermittently responsive to verbal commands during states of light sedation...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#5
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28606456/extended-depth-of-focus-contact-lenses-vs-two-commercial-multifocals-part-1-optical-performance-evaluation-via-computed-through-focus-retinal-image-quality-metrics
#6
Ravi C Bakaraju, Klaus Ehrmann, Arthur Ho
PURPOSE: To compare the computed optical performance of prototype lenses designed using deliberate manipulation of higher-order spherical aberrations to extend depth-of-focus (EDOF) with two commercial multifocals. METHODS: Emmetropic, presbyopic, schematic eyes were coupled with prototype EDOF and commercial multifocal lenses (Acuvue Oasys for presbyopia, AOP, Johnson & Johnson & Air Optix Aqua multifocal, AOMF, Alcon). For each test configuration, the through-focus retinal image quality (TFRIQ) values were computed over 21 vergences, ranging from -0...
June 9, 2017: Journal of Optometry
https://www.readbyqxmd.com/read/28603375/static-balance-according-to-hip-joint-angle-of-unsupported-leg-during-one-leg-standing
#7
Ju-Hyung Cha, Jang-Joon Kim, Jae-Gwan Ye, Seul-Ji Lee, Jeong-Mi Hong, Hyun-Kyu Choi, Ho-Suk Choi, Won-Seob Shin
[Purpose] This study aimed to determine static balance according to hip joint angle of the unsupported leg during one-leg standing. [Subjects and Methods] Subjects included 45 healthy adult males and females in their 20s. During one-leg standing on the non-dominant leg, the position of the unsupported leg was classified according to hip joint angles of point angle was class. Static balance was then measured using a force plate with eyes open and closed. The total length, sway velocity, maximum deviation, and velocity on the mediolateral and anteroposterior axes of center of pressure were measured...
May 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28601586/evaluating-structural-progression-of-retinitis-pigmentosa-after-cataract-surgery
#8
Joaquin O De Rojas, Kaspar Schuerch, Priya M Mathews, Thiago Cabral, Albert Hazan, Janet Sparrow, Stephen H Tsang, Leejee H Suh
PURPOSE: To determine whether cataract surgery accelerates disease progression in retinitis pigmentosa (RP). DESIGN: Retrospective cohort study. METHODS: Seventy eyes of 40 patients with RP were categorized as having had phacoemulsification with intraocular lens implantation versus no cataract surgery at a single tertiary-level institution. Spectral domain optical coherence tomography (SD-OCT) was used to measure the ellipsoid zone (EZ) width, which has been demonstrated to be a reliable marker of RP severity, at baseline and throughout follow-up (median 768 days)...
June 7, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28593402/clinical-presentation-and-prognostic-indicators-in-100-adults-and-children-with-neurofibromatosis-1-associated-non-optic-pathway-brain-gliomas
#9
Susan Byrne, Steve Connor, Karine Lascelles, Ata Siddiqui, Darren Hargrave, Rosalie E Ferner
Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. One hundred patients from the National NF1 Service with generalised NF1 and a diagnosis of non-OPG glioma were followed up for a median time of 63 months after glioma detection...
June 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28592417/electrophysiological-findings-show-generalised-post-photoreceptoral-deficiency-in-macular-telangiectasia-type-2
#10
Anna A Ledolter, Graham E Holder, Robin Ristl, Ursula Schmidt-Erfurth, Markus Ritter
BACKGROUND: Photoreceptor damage, reported in single observations, has been suggested to contribute to the disease pathogenesis in macular telangiectasia type 2 (MacTel2). The purpose of this study was to ascertain whether the photoreceptor or post-photoreceptoral function is affected in MacTel2 and could be detected using electrophysiological examination. METHODS: Thirty-five eyes from 18 patients (15 men, aged 60.1±9.6 years, range 38-77 years) with MacTel2 were included in the study...
June 7, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28589447/cognitive-neurophysiologic-and-metabolic-sequelae-of-previous-hypoglycemic-coma-revealed-by-hyperinsulinemic-hypoglycemic-clamp-in-type-1-diabetic-patients
#11
Alberto Maran, Cristina Crepaldi, Franco Del Piccolo, Ian Macdonald, Lisa Zarantonello, Angelo Avogaro, Piero Amodio
To examine the relationship between electroencephalographic (EEG) activity and hypoglycemia unawareness, we investigated early parameters of vigilance and awareness of various symptom categories in response to hypoglycemia in intensively treated type 1 diabetic (T1DM) patients with different degrees of hypoglycemia unawareness. Hypoglycemia was induced with a hyperinsulinemic-hypoglycemic clamp in six T1DM patients with a history of hypoglycemia unawareness previous severe hypoglycemic coma (SH) and in six T1DM patients without (C) history of hypoglycemia unawareness previous severe hypoglycemic coma...
June 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28586685/marine-microbial-diversity
#12
Guillem Salazar, Shinichi Sunagawa
Invisible to the naked eye, yet dominating life with some 10(30) cells, bacteria and archaea (referred to herein as 'microbes') play key roles in the global cycling of nutrients, matter and energy in our oceans. Having experimented for over 3.5 billion years since their first appearance, they are true master chemists that are capable of carrying out the most diverse and complex of chemical reactions. One of the most abundant groups, cyanobacteria, converts light into chemical energy by fixing carbon dioxide into organic matter...
June 5, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28584926/theory-of-mind-performance-in-parkinson-s-disease-is-associated-with-motor-and-cognitive-functions-but-not-with-symptom-lateralization
#13
Lisa Nobis, Katharina Schindlbeck, Felicitas Ehlen, Hannes Tiedt, Charlotte Rewitzer, Annelien A Duits, Fabian Klostermann
Next to the typical motor signs, Parkinson's disease (PD) goes along with neuropsychiatric symptoms, amongst others affecting social cognition. Particularly, Theory of Mind (ToM) impairments have mostly been associated with right hemispherical brain dysfunction, so that it might prevail in patients with left dominant PD. Fourty-four PD patients, twenty-four with left and twenty with right dominant motor symptoms, engaged in the Reading the Mind in the Eyes (RME) and the Faux Pas Detection Test (FPD) to assess affective and cognitive ToM...
June 5, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28576937/binocular-disparity-selectivity-weakened-after-monocular-deprivation-in-mouse-v1
#14
Benjamin Scholl, Jagruti J Pattadkal, Nicholas J Priebe
Experiences during the critical period sculpt the circuitry within the neocortex, leading to changes in the functional responses of sensory neurons. Monocular deprivation (MD) during the visual critical period causes shifts in ocular preference, or dominance, towards the open eye in primary visual cortex (V1) and disrupts the normal development of acuity. In carnivores and primates, MD also disrupts the emergence of binocular disparity selectivity, a cue resulting from integrating ocular inputs. This disruption may be a result of the increase in neurons driven exclusively by the open eye that follows deprivation or a result of a mismatch in the convergence of ocular inputs...
June 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28576202/effect-of-artificial-anisometropia-in-dominant-and-nondominant-eyes-on-stereoacuity
#15
Reza Nabie, Dima Andalib, Safieh Amir-Aslanzadeh, Hasan Khojasteh
OBJECTIVE: To evaluate the effect of artificial anisometropia in dominant and nondominant eyes on stereoacuity. METHODS: In this descriptive analytic study, 60 healthy adult volunteers 18-37 years of age (mean age: 25.58 years) without any ocular disease were enrolled at Tabriz Nikookari eye hospital over a 1-year period. Anisometropia (unilateral myopia) was induced by placing trial lenses over the dominant and nondominant eyes in 1-diopter (D) increments ranging from 1 to 3 D...
June 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28573051/sensory-eye-dominance-in-treated-anisometropic-amblyopia
#16
Yao Chen, Jiafeng Wang, Hongmei Shi, Xiaoxiao Wang, Lixia Feng
Amblyopia results from inadequate visual experience during the critical period of visual development. Abnormal binocular interactions are believed to play a critical role in amblyopia. These binocular deficits can often be resolved, owing to the residual visual plasticity in amblyopes. In this study, we quantitatively measured the sensory eye dominance in treated anisometropic amblyopes to determine whether they had fully recovered. Fourteen treated anisometropic amblyopes with normal or corrected to normal visual acuity participated, and their sensory eye dominance was assessed by using a binocular phase combination paradigm...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28559633/studies-on-chemical-composition-of-yellowfin-tuna-thunnus-albacares-bonnaterre-1788-eye
#17
Vijayakumar Renuka, Abubacker Aliyamveetil Zynudheen, Satyen Kumar Panda, Chandragiri Nagaraja Rao Ravishankar
Chemical composition viz., fatty acids, amino acids and minerals of yellowfin tuna (Thunnus albacares) eye were analyzed for better utilization of fish processing discards. Analysis of fatty acids composition by gas chromatography-mass spectrometry revealed the presence of polyunsaturated fatty acids namely docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid and linoleic acid at the levels of 37.8, 7.1, 3.6 and 1.4%, respectively. The major available monounsaturated fatty acids, palmitoleic acid and oleic acid were present at the level of 17...
May 2017: Journal of Food Science and Technology
https://www.readbyqxmd.com/read/28559053/peripapillar-retinal-hamartoma-associated-with-tuberous-sclerosis-case-report
#18
F Hernández Pardines, S Núñez Márquez, L Fernández Montalvo, M C Serra Verdú, A Juárez Marroquí
INTRODUCTION: Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease. CASE REPORT: A report is presented on a case of a 31 year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. This was caused by a unilateral retinal hamartoma due to an undiagnosed tuberous sclerosis...
May 27, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28555418/differences-in-quality-of-life-dimensions-of-adult-strabismus-quality-of-life-and-amblyopia-strabismus-questionnaires
#19
Elizabeth S van de Graaf, Gerard J J M Borsboom, Geertje W van der Sterre, Joost Felius, Huibert J Simonsz, Henk Kelderman
PURPOSE: The Adult Strabismus Quality of Life Questionnaire (AS-20) and the Amblyopia & Strabismus Questionnaire (A&SQ) both measure health-related quality of life in strabismus patients. We evaluated to what extent these instruments cover similar domains by identifying the underlying quality-of-life factors of the combined questionnaires. METHODS: Participants were adults from a historic cohort with available orthoptic childhood data documenting strabismus and/or amblyopia...
May 29, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28544509/association-of-arhgap22-gene-polymorphisms-with-the-risk-of-type-2-diabetic-retinopathy
#20
Rong Li, Peng Chen, Jing Li, Mengdan Yan, Jingjie Li, Shanqu Li, Hongli Zhu
BACKGROUND: Little is known about the contribution of ARHGAP22 polymorphism to diabetic retinopathy (DR) risk. We performed a case-control study to investigate the associations between ARHGAP22 and the risk of DR in a Chinese Han population. METHODS: A total of 341 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 188 patients with DR and 153 patients without DR...
May 22, 2017: Journal of Gene Medicine
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