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https://www.readbyqxmd.com/read/28820921/analysis-of-cone-mosaic-reflectance-properties-in-healthy-eyes-and-in-eyes-with-nonproliferative-diabetic-retinopathy-over-time
#1
Letizia Mariotti, Nicholas Devaney, Giuseppe Lombardo, Marco Lombardo
Purpose: We investigate the reflectance properties of the cone mosaic in adaptive optics (AO) images of healthy subjects and subjects with nonproliferative diabetic retinopathy (NPDR) over time. Methods: We acquired images of the parafoveal cone mosaic over 5 years in 12 healthy subjects and in six patients with mild NPDR. We analyzed the parameters of the cone intensity histogram distribution (mean, SD, and skewness), two metrics of the cone mosaic texture (sharpness and entropy), and two novel metrics (cone/intercone intensity and slope of the variogram)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28820920/presumed-solar-retinopathy-in-child-with-juvenile-open-angle-glaucoma
#2
Ta C Chang, Kara M Cavuoto
No abstract text is available yet for this article.
August 18, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#3
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820183/technique-of-retinal-gene-therapy-delivery-of-viral-vector-into-the-subretinal-space
#4
K Xue, M Groppe, A P Salvetti, R E MacLaren
PurposeSafe and reproducible delivery of gene therapy vector into the subretinal space is essential for successful targeting of the retinal pigment epithelium (RPE) and photoreceptors. The success of surgery is critical for the clinical efficacy of retinal gene therapy. Iatrogenic detachment of the degenerate (often adherent) retina in patients with hereditary retinal degenerations and small volume (eg, 0.1 ml) subretinal injections pose new surgical challenges.MethodsOur subretinal gene therapy technique involved pre-operative planning with optical coherence tomography (OCT) and autofluorescence (AF) imaging, 23 G pars plana vitrectomy, internal limiting membrane staining with Membrane Blue Dual (DORC BV, Zuidland, Netherlands), a two-step subretinal injection using a 41 G Teflon tipped cannula (DORC) first with normal saline to create a parafoveal bleb followed by slow infusion of viral vector via the same self-sealing retinotomy...
August 18, 2017: Eye
https://www.readbyqxmd.com/read/28819567/systemic-associations-with-residual-subretinal-fluid-after-ranibizumab-in-diabetic-macular-edema
#5
Meng-Ju Tsai, Yi-Ting Hsieh, Elizabeth P Shen, Yi-Jie Peng
PURPOSE: To investigate the impact of systemic diseases on the occurrence of subretinal fluid (SRF) in diabetic macular edema (DME) and prognostic factors for residual SRF following three consecutive monthly intravitreal ranibizumab. METHODS: Ninety-seven eyes from 68 patients with DME who completed 3 consecutive monthly injections of ranibizumab were enrolled. Systemic parameters mainly included chronic kidney disease (CKD), hypertension, HbA1c, and insulin dependence...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28819514/-fortuitous-detection-of-composite-heterozygous-s-c-sickle-cell-disease
#6
Asmâa Biaz, Maroua Neji, Yousra Ajhoun, Samira El Machtani Idrissi, Abdellah Dami, Karim Reda, Zohra Ouzzif, Sanae Bouhsain
Composite S/C sickle cell disease accounts for 20%-30% of major sickle cell syndromes. We report a case of fortuitous detection of composite heterozygous S/C sickle cell disease in the context of retinal detachment. The patient had been hospitalized in the Department of Ophthalmology for treatment-resistant decreased visual acuity detected 06 months before. The patient's clinical history was marked by total hip replacement (THR) twelve years before. Our study highlights the wide clinical variability of sickle cell disease underlying the importance of early screening and adapted clinical monitoring of patients at-risk, in order to avoid its evolution toward irreversible organic sequelae such as sickle cell retinopathy...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819082/dysregulation-of-calpain-proteolytic-systems-underlies-degenerative-vascular-disorders
#7
Takuro Miyazaki, Akira Miyazaki
Chronic vascular diseases such as atherosclerosis, aneurysms, diabetic angiopathy/retinopathy as well as fibrotic and proliferative vascular diseases are generally complicated by the progression of degenerative insults, which are characterized by endothelial dysfunction, apoptotic/necrotic cell death in vascular/immune cells, remodeling of extracellular matrix or breakdown of elastic lamella. Increasing evidence suggests that dysfunctional calpain proteolytic systems and defective calpain protein metabolism in blood vessels contribute to degenerative disorders...
August 17, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28818533/the-association-between-bouted-and-non-bouted-physical-activity-on-retinopathy-prevalence
#8
Emily Frith, Paul D Loprinzi
OBJECTIVE: We evaluated the specific differential association between non-bouted, lifestyle physical activities (vs. structured exercise; i.e., bouted physical activity) on retinopathy prevalence among a national sample of the broader U.S. adult population. METHODS: Data from the 2005-2006 National Health and Nutrition Examination Survey (NHANES) was used to identify 1501 adults, between 40 and 85years. Bouted and non-bouted physical activities were assessed using objective accelerometer monitoring...
August 14, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28818478/mutations-in-ddhd1-encoding-a-phospholipase-a1-is-a-novel-cause-of-retinopathy-and-neurodegeneration-with-brain-iron-accumulation
#9
Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk, Fanny Mochel
Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is involved in the remodelling of phospholipids. We previously described a relatively pure hereditary spastic paraplegia (HSP) phenotype associated with mutations in DDHD1. Here we report a complex form of HSP associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation (NBIA) on brain MRI, due to a novel homozygous mutation in DDHD1...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28817863/prevention-detection-and-management-of-diabetes-in-south-dakota
#10
Amy L Hogue, Mark K Huntington
Diabetes mellitus (DM) is increasing in prevalence nationwide and in South Dakota, with an especially high prevalence in its American Indian population. Screening is not recommended for type 1 DM, but is for type 2 DM and pre-diabetes in certain populations. Fasting glucose, two-hour glucose tolerance test, or hemoglobin A1c are appropriate screening options. Treatment can include diabetic self-management education programs and medications. In addition to glycemic control, other cardiovascular risk factors must be reduced in these patients and specific testing and consultations should be performed to detect complications such as nephropathy or retinopathy...
2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28817829/altered-expression-profile-of-circular-rnas-in-the-serum-of-patients-with-diabetic-retinopathy-revealed-by-microarray
#11
Yonghao Gu, Genjie Ke, Lin Wang, Enliang Zhou, Kai Zhu, Yingying Wei
PURPOSE: Diabetic retinopathy (DR) is the leading cause of blindness among working age adults. Circular RNAs (circRNAs) are a kind of noncoding RNAs that are involved in the development of some diseases. Here, we aimed to determine the possible role of circRNAs in the pathogenesis of DR by determining the expression profile of circRNAs in the serum of DR patients. METHODS: Nineteen subjects with type 2 diabetes mellitus with proliferative DR (T2DR), 15 subjects with type 2 diabetes mellitus without DR (T2DM), and 21 age-matched nondiabetic control subjects were included in the study...
August 18, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28817823/comparison-of-renal-outcome-among-japanese-patients-with-or-without-microangiopathic-hemolysis-in-malignant-phase-hypertension-a-single-center-retrospective-study
#12
Yoshikuni Nagayama, Yoshihiko Inoue, Kiyoko Inui, Ashio Yoshimura
BACKGROUND/AIMS: Although microangiopathic hemolysis (MAH) is a well-known complication of malignant phase hypertension (MPH), only less data on whether MAH in MPH predicts renal outcome exist. Therefore, we evaluated whether MAH was associated with the renal outcome in patients with MPH. METHODS: We conducted a single-center, retrospective, cohort study. Data from 35 patients diagnosed with MPH between October 1998 and January 2015 were analyzed. MPH was defined as the presence of a diastolic blood pressure of ≥120 mm Hg and grades III/IV hypertensive retinopathy according to the Keith-Wagener-Barker classification...
August 18, 2017: Nephron
https://www.readbyqxmd.com/read/28817814/cardiac-computed-tomography-angiographic-findings-as-predictors-of-late-heart-failure-in-an-asymptomatic-diabetic-cohort-an-8-year-prospective-follow-up-study
#13
David A Halon, Jubran Ayman, Ronen Rubinshtein, Barak Zafrir, Mali Azencot, Basil S Lewis
OBJECTIVES: Predictive models for heart failure (HF) in heterogeneous populations have had limited success. We examined cardiac computed tomography angiography (CTA) predictors of HF or cardiovascular death (HF-CVD) in a prospective study of asymptomatic diabetics undergoing baseline assessment by CTA. METHODS: The subjects (n = 735, aged 55-74 years, 51.2% women) had no clinical history of cardiovascular disease at study entry. Coronary artery calcium (CAC) score, CTA-defined coronary atherosclerosis, cardiac chamber volumes, and clinical data were collected and late outcome events recorded over 8...
August 18, 2017: Cardiology
https://www.readbyqxmd.com/read/28817788/the-joint-effect-of-the-endothelin-receptor-b-gene-ednrb-polymorphism-rs10507875-and-nitric-oxide-synthase-3-gene-nos3-polymorphism-rs869109213-in-slovenian-patients-with-type-2-diabetes-mellitus-and-diabetic-retinopathy
#14
Dejan Bregar, Ines Cilenšek, Sara Mankoč, Ana Reschner, Danijel Petrovič, Mojca Globočnik Petrovič
Increasing evidence suggests that endothelin and nitric oxide synthase genes and their products exert biological effects on the vasculature via the nitric oxide or endothelin pathway. The aim of the study was to evaluate the association of rs10507875 and rs869109213 (alone or in interaction) with diabetic retinopathy (DR) in subjects with type 2 diabetes mellitus (T2DM). We genotyped the single nucleotide polymorphism rs10507875 of the endothelin receptor B gene (EDNRB) and variable number tandem repeats rs869109213 of the nitric oxide synthase 3 gene (NOS3) in 270 Slovenian patients with DR and T2DM and 256 controls with T2DM without clinical signs of DR...
August 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28817540/association-of-olfactory-function-with-the-intensity-of-self-reported-physical-activity-in-adults-with-type-1-diabetes
#15
Bogusz Falkowski, Maciej Chudziński, Ewa Jakubowska, Anna Duda-Sobczak
INTRODUCTION    Olfactory function is impaired in patients with type 1 diabetes and can be recognized as a form of diabetic neuropathy. Physical activity has various beneficial effects on type 1 diabetes. OBJECTIVES    The aim of this study was to assess a relation between physical activity and olfactory function in patients with type 1 diabetes. PATIENTS AND METHODS    We enrolled 120 patients with type 1 diabetes referred to an outpatient diabetes clinic. Patients with diabetes duration of less than 5 years, age above 65 years, concomitant diabetic ketoacidosis, and those using drugs affecting nasal mucosa were excluded...
August 9, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28815346/unilateral-cancer-associated-retinopathy-diagnosis-serology-and-treatment
#16
Dimitri Roels, Shinji Ueno, Cornelia D Talianu, Dafina Draganova, Mineo Kondo, Bart P Leroy
PURPOSE: To report a case of unilateral cancer-associated retinopathy (CAR) with clinical, serological and electroretinogram (ERG) normalization after aggressive cancer treatment combined with steroids and rituximab. METHODS: Work-up included extensive clinical and electrophysiological testing. Also, serological work-up for antiretinal antibodies and oncological screening was organized. RESULTS: A 45-year-old female presented with progressive photopsias, photophobia and relative central scotoma in the right eye since 6 weeks prior...
August 16, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28815013/diabetic-retinopathy-reversibility-of-epigenetic-modifications-and-new-therapeutic-targets
#17
REVIEW
Xinyuan Zhang, Lin Zhao, Brett Hambly, Shisan Bao, Kaiyue Wang
In recent years, considerable progress has been made in the molecular mechanisms of epigenetics in disease development and progression, the reversible characteristics of epigenetic modification provide new insights for the treatment of such diseases. The pathogenesis of diabetic retinopathy (DR) has not yet been fully understood, treatment of refractory and recurrent diabetic macular edema remains a big change in clinical practice. This review emphasizes that reversibility of epigenetic modification could provide a new strategy for the prevention and treatment of diseases...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28814412/long-term-outcomes-with-as-needed-aflibercept-in-diabetic-macular-oedema-2-year-outcomes-of-the-endurance-extension-study
#18
Charles C Wykoff, William C Ou, Rahul N Khurana, David M Brown, W Lloyd Clark, David S Boyer
BACKGROUND/AIMS: To evaluate the efficacy and safety of individualised 2.0 mg intravitreal aflibercept retreatment for diabetic macular oedema (DME) through the fifth year of management. METHODS: This is a phase IV, 2-year, open-label extension study. Sixty patients completing the 3-year VISTA DME (Study of Intravitreal Aflibercept Injection in Patients With Diabetic Macular Edema) phase III trial enrolled in the ENDURANCE (Long-Term Efficacy and Safety of Intravitreal Aflibercept for the Treatment of DME in Subjects Who Completed the VISTA DME Trial) extension study...
August 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28814287/early-onset-coats-disease-initially-treated-as-unilateral-rop-at-39%C3%A2-weeks-postmenstrual-age-a-case-report
#19
Jie Peng, Qi Zhang, Chunli Chen, Qiujing Huang, Yian Li, Peiquan Zhao
BACKGROUND: This is the youngest case of Coats' disease, in terms of postmenstrual age (PMA), to be reported in the literature. This case highlights the remarkable variations in the clinical manifestations and the very early onset of Coats' disease. This case is unusual in both the age of onset and atypical clinical features, which resemble retinopathy of prematurity (ROP). CASE PRESENTATION: We report a case of a preterm boy born at 31 5/7 weeks gestational age who presented with atypical Coats' disease and was initially diagnosed as having ROP of only one eye at 39 weeks PMA...
August 16, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28813472/an-intronic-line-1-insertion-in-mertk-is-strongly-associated-with-retinopathy-in-swedish-vallhund-dogs
#20
Richard Everson, Louise Pettitt, Oliver P Forman, Olivia Dower-Tylee, Bryan McLaughlin, Saija Ahonen, Maria Kaukonen, András M Komáromy, Hannes Lohi, Cathryn S Mellersh, Jane Sansom, Sally L Ricketts
The domestic dog segregates a significant number of inherited progressive retinal diseases, several of which mirror human retinal diseases and which are collectively termed progressive retinal atrophy (PRA). In 2014, a novel form of PRA was reported in the Swedish Vallhund breed, and the disease was mapped to canine chromosome 17. The causal mutation was not identified, but expression analyses of the retinas of affected Vallhunds demonstrated a 6-fold increased expression of the MERTK gene compared to unaffected dogs...
2017: PloS One
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