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https://www.readbyqxmd.com/read/30098244/-identification-of-compound-heterozygous-mutations-of-sacs-gene-in-two-patients-from-a-pedigree-with-spastic-ataxia-of-charlevoix-saguenay
#1
Shirong Li, Yongping Chen, Xiaoqin Yuan, Qianqian Wei, Ruwei Ou, Xiaojing Gu, Huifang Shang
OBJECTIVE: To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS: Next generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30098188/modeling-the-origin-of-the-ocular-pulse-and-its-impact-on-the-optic-nerve-head
#2
Yuejiao Jin, Xiaofei Wang, Liang Zhang, Jost B Jonas, Tin Aung, Leopold Schmetterer, Michaël J A Girard
Purpose: To use finite element (FE) analysis to understand the origin of the ocular pulse and predict its biomechanical impact on the optic nerve head (ONH). Methods: An FE model of a healthy eye was reconstructed. The choroid was biphasic and consisted of a solid phase (connective tissues) and a fluid phase (blood). We applied arterial blood pressure at 18 entry sites (posterior ciliary arteries) and venous blood pressure at 4 exit sites (vortex veins). For one cardiac cycle, we reported the resulting pulse volume, the ocular pulse amplitude (OPA), and diastole-to-systole ONH deformations...
August 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30097156/effects-of-cerebellar-magnetic-stimulation-on-chronic-post-lateral-medullary-infarction-dizziness-a-proof-of-principle-cohort-study
#3
Ken Johkura, Yosuke Kudo, Eriko Sugawara, Kosuke Watanabe, Tomoki Nakamizo, Masahiro Yamamoto, Kazumitsu Amari, Koji Takahashi, Osamu Tanaka
BACKGROUND AND PURPOSE: Lateral medullary infarction (LMI) sometimes causes long-lasting dizziness. Although the precise mechanism of chronic post-LMI dizziness is unknown, a cerebellar control disorder of the vestibulo-ocular reflex (VOR) has been reported in such patients. We conducted a proof-of-principle cohort study to assess the potential efficacy of cerebellar repetitive transcranial magnetic stimulation (rTMS) as treatment for chronic post-LMI dizziness. METHODS: We first applied cerebellar rTMS in healthy volunteers (n = 11) and showed that cerebellar intermittent theta burst stimulation (iTBS) affected vestibulocerebellar neural activity...
September 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30096194/self-rated-depression-and-eye-diseases-the-beijing-eye-study
#4
Jost B Jonas, Wen Bin Wei, Liang Xu, Marcella Rietschel, Fabian Streit, Ya Xing Wang
PURPOSE: To assess the prevalence of depression in the general population of Beijing and its association with ocular diseases. METHODS: The population-based Beijing Eye Study was conducted in a rural and an urban region of Greater Beijing. The study participants underwent a detailed ophthalmological examination and an interview including questions on the socioeconomic background. Depressive symptoms were evaluated using a Chinese depression scale adapted from Zung´s self-rated depression scale...
2018: PloS One
https://www.readbyqxmd.com/read/30091740/changes-in-ocular-perfusion-pressure-in-response-to-short-term-isometric-exercise-in-young-adults
#5
C M Ramya, S M Nataraj, R Rajalakshmi, M C Smitha
Ocular Perfusion Pressure (OPP) is the pressure difference between the Mean Arterial Pressure (MAP) and theIntra Ocular Pressure (IOP). Decreased OPP could be a major risk factor for glaucoma. The aim is to study the effect ofIsometric exercise on OPP in apparently healthy young adults. Forty apparently healthy young adult volunteers comprising20 males and 20 females in the age group of 18-21 years were selected among MBBS Phase I students of JSS Medicalcollege, JSSU, Mysore. IOP and BP were recorded. Mean arterial pressure (MAP) and OPP were calculated...
June 30, 2018: Nigerian Journal of Physiological Sciences: Official Publication of the Physiological Society of Nigeria
https://www.readbyqxmd.com/read/30081018/visual-function-and-fundus-morphology-in-relation-to-growth-and-cardiovascular-status-in-10-year-old-moderate-to-late-preterm-children
#6
Alexandra Lind, Jovanna Dahlgren, Lina Raffa, Kerstin Allvin, Deala Ghazi Mroué, Marita Andersson Grönlund
PURPOSE: To study visual function and ocular fundus morphology in relation to growth, metabolic status and blood pressure in moderate-to-late preterm (MLP) children at 10 years of age. DESIGN: Prospective cohort study. METHODS: In this population-based observational study, non-syndromic MLP children born in Gothenburg, Sweden, were examined neonatally year 2002-2003 concerning length, weight, head circumference and insulin-like growth factor I (IGF-I)...
August 3, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/30077709/clusterin-from-human-clinical-tear-samples-positive-correlation-between-tear-concentration-and-schirmer-strip-test-results
#7
Valerie Yu, Dhruva Bhattacharya, Andrew Webster, Aditi Bauskar, Charles Flowers, Martin Heur, Shravan K Chintala, Tatsuo Itakura, Mark R Wilson, Joseph T Barr, Shinwu Jeong, Mingwu Wang, M Elizabeth Fini
PURPOSE: To investigate the relationship between tear concentration of the homeostatic protein clusterin (CLU) and dry eye signs and symptoms, and to characterize tear CLU protein. METHODS: Two independent studies were conducted, one in Tucson (44 subjects), the other in Los Angeles (52 subjects). A cohort study design was employed, enrolling patients without regard to dry eye diagnosis. Dry eye signs and symptoms were assessed using clinical tests. Tear samples were collected by Schirmer strip, and also by micropipette at slit lamp when possible...
August 2, 2018: Ocular Surface
https://www.readbyqxmd.com/read/30076485/necrotising-retinopathy-like-lesions-as-a-manifestation-of-ocular-sarcoidosis
#8
Florence Rasquin, Nacima Kisma, Laure Van Bol
BACKGROUND: A 56-year-old Caucasian man presented with a 2-weeks history of decreased vision in the right eye. Vitritis, papillitis, cystoid macular oedema and inferior diffuse retinal infiltration were noticed. Extensive blood work-up, anterior chamber paracentesis with polymerase chain reaction (PCR) and Goldmann-Witmer coefficient, tuberculin skin test (PPD-test), fluorodeoxyglucose Positron Emission Tomography CT scan (FDG-PET/CT), lymph node biopsy and pars plana vitrectomy were performed...
August 3, 2018: Journal of Ophthalmic Inflammation and Infection
https://www.readbyqxmd.com/read/30063883/peptidyl-prolyl-cis-trans-isomerase-a-a-novel-biomarker-of-multi-episodic-recurrent-ocular-toxoplasmosis
#9
Jordan Isenberg, Makan Golizeh, Rubens N Belfort, Alexandre J da Silva, Miguel N Burnier, Momar Ndao
Ocular toxoplasmosis (OT) is the most common etiology of posterior uveitis. The high incidence of macular scarring associated with OT is a leading cause of visual morbidity. Serum biomarkers of the disease would aid in its diagnosis. This study sought, for the first time, to elucidate serum biomarkers for OT by mass spectrometry. Blood samples were collected from four groups of nine patients each; toxoplasmosis IgG-with no history of uveitis, non-toxoplasmosis uveitis, first episode OT, and symptomatic recurrent OT...
July 28, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/30059036/isolation-of-retinal-arterioles-for-ex-vivo-cell-physiology-studies
#10
Tim M Curtis, Declan McLaughlin, Michael O'Hare, Joanna Kur, Peter Barabas, Gordon Revolta, C Norman Scholfield, J Graham McGeown, Mary K McGahon
The retina is a highly metabolically active tissue that requires a substantial blood supply. The retinal circulation supports the inner retina, while the choroidal vessels supply the photoreceptors. Alterations in retinal perfusion contribute to numerous sight-threatening disorders, including diabetic retinopathy, glaucoma and retinal branch vein occlusions. Understanding the molecular mechanisms involved in the control of blood flow through the retina and how these are altered during ocular disease could lead to the identification of new targets for the treatment of these conditions...
July 14, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/30058164/microbial-contamination-of-multiple-use-bottles-of-fluorescein-ophthalmic-solution
#11
Samuel Kyei, David France, Kofi Asiedu
BACKGROUND: The contamination of ophthalmic solutions in ophthalmic practices remains an important cause of a myriad of secondary eye infections and a source of aggravation of ocular disorders such as corneal ulcers and keratitis. The aim of this study was to investigate the possible microbial contamination of fluorescein sodium dye solutions used in eye clinics in Ghana. METHODS: Fluorescein sodium solutions were collected from various eye clinics in Ghana. Twenty-one samples of multiple-use fluorescein ophthalmic solutions were collected from various regions in Ghana...
July 29, 2018: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/30054132/metals-loids-targeting-fish-eyes-and-brain-in-a-contaminated-estuary-uncovering-neurosensory-un-susceptibility-through-bioaccumulation-antioxidant-and-morphometric-profiles
#12
Ricardo Pereira, Eduarda Leite, Joana Raimundo, Sofia Guilherme, Sónia Puga, Filipa Pinto-Ribeiro, Maria Ana Santos, João Canário, Armando Almeida, Mário Pacheco, Patrícia Pereira
This study examined the susceptibility of fish (Liza aurata) eyes and brain to metals(loids) contamination under realistic exposure conditions. A multidimensional approach was applied to fish caught at a chronically contaminated site (BAR) and at a reference site of the Tagus estuary (Portugal), which comprised metals(loids) accumulation in eyes and brain together with a battery of enzymatic and non-enzymatic antioxidants, as well as brain morphometry (i.e. cell density). Trace element levels in the blood, gills, liver and kidney allowed interpretations on their preferential pathway(s) to the eyes and brain...
July 7, 2018: Marine Environmental Research
https://www.readbyqxmd.com/read/30050354/-loa-loa-infection-detection-using-biomarkers-current-perspectives
#13
REVIEW
Jean Paul Akue, Elsa-Rush Eyang-Assengone, Roland Dieki
Loa loa is originally a restricted filarial worm from central Africa and some west African countries. However, numerous imported cases are being reported throughout the world due to human movement. Traditionally, its diagnosis is based on identification of microfilariae in the peripheral blood or the passage of the adult worm under the conjunctiva. However, few patients have microfilariae in their peripheral blood, while the majority of infected people are amicrofilaremic (without microfilariae in their blood), despite clinical symptoms suggesting L...
2018: Research and Reports in Tropical Medicine
https://www.readbyqxmd.com/read/30050281/the-short-term-effect-of-acupuncture-on-different-ocular-blood-flow-parameters-in-patients-with-primary-open-angle-glaucoma-a-randomized-clinical-study
#14
Anna Leszczynska, Lisa Ramm, Eberhard Spoerl, Lutz E Pillunat, Naim Terai
Introduction: To investigate the effect of acupuncture on different ocular blood flow (OBF) parameters in patients with primary open-angle glaucoma (POAG). Patients and methods: In a prospective, randomized study, 56 POAG patients were randomly assigned either to an eye-specific acupuncture (group I, n=28) or to an eye-unspecific acupuncture treatment (group II, n=28). Blood flow parameters were measured before and 10 minutes after treatment. Parapapillary retinal blood flow was determined by the Heidelberg retina flowmeter...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/30046058/determination-of-system-level-alterations-in-host-transcriptome-due-to-zika-virus-zikv-infection-in-retinal-pigment-epithelium
#15
Pawan Kumar Singh, Indu Khatri, Alokkumar Jha, Carla D Pretto, Katherine R Spindler, Vaithilingaraja Arumugaswami, Shailendra Giri, Ashok Kumar, Manoj K Bhasin
Previously, we reported that Zika virus (ZIKV) causes ocular complications such as chorioretinal atrophy, by infecting cells lining the blood-retinal barrier, including the retinal pigment epithelium (RPE). To understand the molecular basis of ZIKV-induced retinal pathology, we performed a meta-analysis of transcriptome profiles of ZIKV-infected human primary RPE and other cell types infected with either ZIKV or other related flaviviruses (Japanese encephalitis, West Nile, and Dengue). This led to identification of a unique ZIKV infection signature comprising 43 genes (35 upregulated and 8 downregulated)...
July 25, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30034960/ocular-and-systemic-risk-factors-and-correlation-with-glaucomatous-damage-in-normal-tension-glaucoma
#16
Vallinayagam Muthu Krishnan, Pandian Datta Gulnar, Rao Vasudev Anand, Chellappa Vijayakumar, Gopal Balasubramaniyan
Background Normal tension glaucoma (NTG) is a clinical entity that poses a diagnostic and therapeutic challenge. The study elaborates ocular and systemic risk factors of NTG in the South Indian population. It determines the correlation between risk factors and severity of glaucomatous damage. Methods This descriptive study was done on 81 eyes of 41 patients. A brief history of hypertension, heart disease, migraine, and family history of glaucoma were noted. The parameters measured include blood pressure, lipid profile, visual acuity, refraction, intraocular pressure (IOP) by applanation tonometry, diurnal variation, slit lamp biomicroscopy, central corneal thickness (CCT), and perimetry (Humphrey 24-2)...
May 16, 2018: Curēus
https://www.readbyqxmd.com/read/30028393/reconstruction-of-contracted-eye-socket-with-autogenic-dermal-sphere-connected-to-epidermis
#17
Rui Tian, Haitao Xu, Xinyu Huang, Xingxing Wang, Jialu Zhang, Yuanyuan Du
BACKGROUND: Because of the deficiency of blood circulation and soft tissue, reconstruction of the eye socket for severe conjunctival sac stenosis in anophthalmic patients is very difficult. In this article, the authors report an innovative technique for conducting a 1-stage operation to reconstruct the contracted eye socket with an autogenic dermal sphere connected to the epidermis (ADSE). METHODS: Five patients, each having a single severely contracted eye socket and conjunctival sac, were included in this study...
July 19, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/30027433/water-intake-keeps-type-2-diabetes-away-focus-on-copeptin
#18
REVIEW
Giovanna Muscogiuri, Luigi Barrea, Giuseppe Annunziata, Martina Vecchiarini, Francesco Orio, Carolina Di Somma, Annamaria Colao, Silvia Savastano
INTRODUCTION: In both diabetic subjects and animal models high levels of vasopressin (AVP) have beendetected. The relationship between AVP and glucose metabolism is mediated through several direct andindirect effects and most of them are still unknown. METHODS: We have reviewed 100 manuscripts retrieved from Cochrane Library, Embase and Pubmeddatabases in order to highlight a possible relationship between copeptin and type 2 diabetes and to provideinsights on the molecular mechanism that could explain this association...
July 19, 2018: Endocrine
https://www.readbyqxmd.com/read/30025080/the-impact-of-intraocular-pressure-elevation-on-optic-nerve-head-and-choroidal-blood-flow
#19
Naoki Kiyota, Yukihiro Shiga, Kohei Ichinohasama, Masayuki Yasuda, Naoko Aizawa, Kazuko Omodaka, Naoto Honda, Hiroshi Kunikata, Toru Nakazawa
Purpose: To use laser speckle flowgraphy (LSFG) to assess blood flow (BF) in the optic nerve head (ONH) tissue and choroid during elevated intraocular pressure (IOP). Methods: This prospective study included 20 eyes of 20 healthy volunteers. The testing protocol had a baseline phase, two elevated IOP phases (+10 and +20 mm Hg), and a recovery phase. IOP was elevated by pushing against the eyelid with a novel tubular device attached to the LSFG apparatus. Measurement parameters in each phase included: LSFG-derived mean blur rate (MBR) and flow acceleration index (FAI); systemic parameters, and IOP...
July 2, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30022821/montmorillonite-chitosan-nanoparticles-as-a-novel-controlled-release-topical-ophthalmic-delivery-system-for-the-treatment-of-glaucoma
#20
Juan Li, Shuangyan Tian, Qi Tao, Yawen Zhao, Ruyi Gui, Fan Yang, Lingquan Zang, Yanzhong Chen, Qineng Ping, Dongzhi Hou
Background: To date, the rapid clearance from ocular surface has been a huge obstacle for using eye drops to treat glaucoma, since it has led to the short preocular residence time and low bioavailability. Methods: The novel nanoparticles (NPs) were designed for topical ophthalmic controlled drug delivery system through intercalating the BH into the interlayer gallery of Na-montmorillonite (Na+Mt) and then further enchasing chitosan nanoparticles. The resulting nanoparticles had a positive charge (+29±0...
2018: International Journal of Nanomedicine
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