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https://www.readbyqxmd.com/read/28743131/the-spatial-extent-of-epiretinal-electrical-stimulation-in-the-healthy-mouse-retina
#1
Zohreh Hosseinazdeh, Archana Jalligampala, Eberhart Zrenner, Daniel Lleweylln Rathbun
BACKGROUND/AIMS: Retinal prostheses use electrical stimulation to restore functional vision to patients blinded by retinitis pigmentosa. A key detail is the spatial pattern of ganglion cells activated by stimulation. Therefore, we characterized the spatial extent of network-mediated electrical activation of retinal ganglion cells (RGCs) in the epiretinal monopolar electrode configuration. METHODS: Healthy mouse RGC activities were recorded with a micro-electrode array (MEA)...
July 26, 2017: Neuro-Signals
https://www.readbyqxmd.com/read/28738764/neuroprotection-by-endo-cannabinoids-in-glaucoma-and-retinal-neurodegenerative-diseases
#2
Cinzia Rapino, Daniel Tortolani, Lucia Scipioni, Mauro Maccarrone
Emerging neuroprotective strategies are being explored to preserve the retina from degeneration, that occurs in eye pathologies like glaucoma, diabetic retinopathy, age-related macular degeneration, and retinitis pigmentosa. Incidentally, neuroprotection of retina is a defending mechanism designed to prevent or delay neuronal cell death, and to maintain neural function following an initial insult, thus avoiding loss of vision. Numerous studies have investigated potential neuroprotective properties of plant-derived phytocannabinoids, as well as of their endogenous counterparts collectively termed endocannabinoids (eCBs), in several degenerative diseases of the retina...
July 24, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28738413/reliability-and-repeatability-of-cone-density-measurements-in-patients-with-stargardt-disease-and-rpgr-associated-retinopathy
#3
Preena Tanna, Melissa Kasilian, Rupert Strauss, James Tee, Angelos Kalitzeos, Sergey Tarima, Alexis Visotcky, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Purpose: To assess reliability and repeatability of cone density measurements by using confocal and (nonconfocal) split-detector adaptive optics scanning light ophthalmoscopy (AOSLO) imaging. It will be determined whether cone density values are significantly different between modalities in Stargardt disease (STGD) and retinitis pigmentosa GTPase regulator (RPGR)-associated retinopathy. Methods: Twelve patients with STGD (aged 9-52 years) and eight with RPGR-associated retinopathy (aged 11-31 years) were imaged using both confocal and split-detector AOSLO simultaneously...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28733929/outcomes-of-ahmed-glaucoma-valve-implantation-for-steroid-induced-elevated-intraocular-pressure-in-patients-with-retinitis-pigmentosa
#4
Umit Eksioglu, Caglar Oktem, Gulten Sungur, Mehmet Yakin, Gulizar Demirok, Firdevs Ornek
PURPOSE: To evaluate the outcomes of Ahmed glaucoma valve (AGV) in the management of elevated intraocular pressure (IOP) secondary to steroid use for macular edema in patients with retinitis pigmentosa (RP). METHODS: A total of nine eyes of five patients were evaluated retrospectively. Complete success was defined as IOP ≤ 21 mmHg without glaucoma medications, while qualified success was defined as IOP ≤ 21 mmHg with glaucoma medications. RESULTS: Mean age at surgery was 25...
July 21, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28731672/-urticaria-pigmentosa-clinical-and-therapeutic-aspects-for-the-paediatrician
#5
Catherina Moll-Manzur, Esteban Araos-Baeriswyl, Camila Downey, María T Dossi
Urticaria pigmentosa, also known as maculopapular mastocytosis, is the most common type of paediatric mastocytosis. It presents with yellow to brown macules or papules, usually located on trunk and extremities. Regarding its diagnostic and therapeutic implications, the objective of this article is to serve as an update for the paediatrician on the most relevant aspects of this pathology.
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#6
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730077/proteomic-profiling-of-early-degenerative-retina-of-rcs-rats
#7
Zhi-Hong Zhu, Yan Fu, Chuan-Huang Weng, Cong-Jian Zhao, Zheng-Qin Yin
AIM: To identify the underlying cellular and molecular changes in retinitis pigmentosa (RP). METHODS: Label-free quantification-based proteomics analysis, with its advantages of being more economic and consisting of simpler procedures, has been used with increasing frequency in modern biological research. Dystrophic RCS rats, the first laboratory animal model for the study of RP, possess a similar pathological course as human beings with the diseases. Thus, we employed a comparative proteomics analysis approach for in-depth proteome profiling of retinas from dystrophic RCS rats and non-dystrophic congenic controls through Linear Trap Quadrupole - orbitrap MS/MS, to identify the significant differentially expressed proteins (DEPs)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28725290/the-discovery-of-the-flammer-syndrome-a-historical-and-personal-perspective
#8
REVIEW
Josef Flammer, Katarzyna Konieczka
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#9
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28720880/pattern-of-retinal-morphological-and-functional-decay-in-a-light-inducible-rhodopsin-mutant-mouse
#10
Claudia Gargini, Elena Novelli, Ilaria Piano, Martina Biagioni, Enrica Strettoi
Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715844/effects-of-pathogenic-variations-in-the-human-rhodopsin-gene-hrho-on-the-predicted-accessibility-for-a-lead-candidate-ribozyme
#11
Beau R Froebel, Alexandria J Trujillo, Jack M Sullivan
Purpose: The mutation-independent strategy for hammerhead ribozyme (hhRz) or RNA interference (RNAi)-based gene therapeutics to treat autosomal dominant diseases is predicated on the hypothesis that a single therapeutic would equivalently suppress all/most of the diverse mutant mRNAs in patients with the disease phenotype. However, the hypothesis has not been formally tested. We address this through a comprehensive bioinformatics study of how mutations affect target mRNA structure accessibility for a single lead hhRz therapeutic (725GUC↓), designed against human rod rhodopsin mRNA (hRHO), for patients with hRHO mutations that cause autosomal dominant retinitis pigmentosa...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28709891/neuroprotective-effects-of-methyl-3-4-dihydroxybenzoate-in-a-mouse-model-of-retinitis-pigmentosa
#12
Jia Zhang, Di Xu, Huan Ouyang, Songhui Hu, Ang Li, Huanmin Luo, Ying Xu
Retinitis pigmentosa is a photoreceptor-degenerative disease that is currently untreatable and eventually causes blindness. Methyl 3,4 dihydroxybenzoate (MDHB) is a small molecule that exerts neuroprotective effect in vitro. The present study tests whether MDHB protects the retina of rd10 mice, a model of retinitis pigmentosa. MDHB or equal volume of vehicle was intraperitoneally injected in rd10 mice daily from postnatal day 12 (P12) to P26. Retinal morphology was evaluated by immunostaining, and retinal function by electroretinogram (ERG) and by visual behavior...
July 11, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28707069/variants-in-the-prpf8-gene-are-associated-with-glaucoma
#13
Shazia Micheal, Barend F Hogewind, Muhammad Imran Khan, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Farah Akhtar, Raheel Qamar, Carel B Hoyng, Anneke I den Hollander
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing...
July 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#14
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28703796/p75-ntr-antagonists-attenuate-photoreceptor-cell-loss-in-murine-models-of-retinitis-pigmentosa
#15
María Platón-Corchado, Pablo F Barcelona, Sean Jmaeff, Miguel Marchena, Alberto M Hernández-Pinto, Catalina Hernández-Sánchez, H Uri Saragovi, Enrique J de la Rosa
ProNGF signaling through p75(NTR) has been associated with neurodegenerative disorders. Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies that causes progressive photoreceptor cell degeneration and death, at a rate dependent on the genetic mutation. There are more than 300 mutations causing RP, and this is a challenge to therapy. Our study was designed to explore a common mechanism for p75(NTR) in the progression of RP, and assess its potential value as a therapeutic target. The proNGF/p75(NTR) system is present in the dystrophic retina of the rd10 RP mouse model...
July 13, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28702966/possible-role-of-helicobacter-pylori-in-diseases-of-dermatological-interest
#16
C Guarneri, J Lotti, M Fioranelli, M G Roccia, T Lotti, F Guarneri
Helicobacter pylori is a gram-negative, flagellate, microaerophilic bacterium identified for the first time about 30 years ago, as a pathogenic factor of gastritis and peptic ulcer. Soon after, it was linked to several gastrointestinal and extra-gastrointestinal diseases (hematological, cardiovascular, neurological, pulmonary and ocular diseases, obesity, diabetes mellitus, growth retardation and extragastric MALT lymphoma). Association and possible cause-effect correlation with H. pylori infection were suggested in diseases of dermatological interest such as chronic urticaria, rosacea, Henoch-Schoenleins purpura, idiopathic thrombocytopenic purpura, cutaneous and oral lichen planus, atopic dermatitis, recurrent aphthous stomatitis, systemic sclerosis, psoriasis, Sjögrens syndrome, Behçet's disease, pruritus, alopecia areata, primary cutaneous marginal zone B-cell lymphomas, vitiligo, chronic prurigo, multiformis, prurigo nodularis, leukocytoclastic vasculitis, prurigo pigmentosa, eczema nummulare, primary cutaneous MALT-type lymphoma, sublamina densa-type linear IgA bullous dermatosis, Sweet's syndrome, cutaneous T-cell pseudolymphoma and pemphigus vulgaris...
July 13, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28696540/conserved-hydrophobic-residues-in-the-carp-%C3%AE-sheet-domain-of-cyclase-associated-protein-are-involved-in-actin-monomer-regulation
#17
Shohei Iwase, Shoichiro Ono
Cyclase-associated protein (CAP) is a multi-domain protein that promotes actin filament dynamics. The C-terminal region of CAP contains a CAP and X-linked retinitis pigmentosa 2 protein (CARP) domain (or a β-sheet domain), which binds to actin monomer and is essential for enhancing exchange of actin-bound nucleotides. However, how the CARP domain binds to actin is not clearly understood. Here, we report that conserved hydrophobic residues in the CARP domain play important roles in the function of CAP to regulate actin dynamics...
July 11, 2017: Cytoskeleton
https://www.readbyqxmd.com/read/28688563/a-novel-mutation-in-the-myo7a-gene-is-associated-with-usher-syndrome-type-1-in-a-chinese-family
#18
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28685406/leber-s-congenital-amaurosis-and-gene-therapy
#19
Brijesh Takkar, Pooja Bansal, Pradeep Venkatesh
Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy. This review discusses in brief the clinical presentation and investigative modalities used in LCA. Further, the road to gene discovery and details of currently applied gene therapy are presented. LCA is one of the first successfully managed human diseases and offers an entirely new dimension in ocular therapeutics...
July 7, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28678594/visual-outcomes-in-japanese-patients-with-retinitis-pigmentosa-and-usher-syndrome-caused-by-ush2a-mutations
#20
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations...
July 5, 2017: Seminars in Ophthalmology
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