keyword
MENU ▼
Read by QxMD icon Read
search

Retinal

keyword
https://www.readbyqxmd.com/read/28453661/photoreceptor-outer-segment-as-a-sink-for-membrane-proteins-hypothesis-and-implications-in-retinal-ciliopathies
#1
Seongjin Seo, Poppy Datta
The photoreceptor outer segment (OS) is a unique modification of the primary cilium, specialized for light perception. Being homologous organelles, the primary cilium and the OS share common building blocks and molecular machinery to construct and maintain them. The OS, however, has several unique structural features that are not seen in primary cilia. Although these unique features of the OS have been well documented, their implications in protein localization have been under-appreciated. In this review, we compare the structural properties of the primary cilium and the OS, and propose a hypothesis that the OS can act as a sink for membrane proteins...
April 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28453600/whole-exome-sequencing-in-eight-thai-patients-with-leber-congenital-amaurosis-reveals-mutations-in-the-ctnna1-and-cyp4v2-genes
#2
Worapoj Jinda, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28453510/is-aspirin-associated-with-diabetic-retinopathy-the-singapore-epidemiology-of-eye-disease-seed-study
#3
Yuan Shi, Yih-Chung Tham, Ning Cheung, Jacqueline Chua, Gavin Tan, Paul Mitchell, Jie Jin Wang, Yin Bun Cheung, Ching-Yu Cheng, Tien Yin Wong
BACKGROUND/AIMS: To determine the association between aspirin use and diabetic retinopathy (DR) among persons with diabetes, in a population-based, cross-sectional study. METHODS: Subjects with diabetes aged >40 years from the Singapore Epidemiology of Eye Diseases Study were enrolled in this study. Retinal photographs were graded for DR according to the modified Airlie House classification system. Vision threatening diabetic retinopathy (VTDR) was defined as the presence of severe non-proliferative DR, or proliferative DR, or clinically significant macular oedema...
2017: PloS One
https://www.readbyqxmd.com/read/28453367/retinal-pigment-epithelium-photoreceptor-layer-alterations-in-a-patient-with-sturge-weber-syndrome-with-diffuse-choroidal-hemangioma
#4
Solmaz Abdolrahimzadeh, Francesco Parisi, Flavio Mantelli, Andrea Perdicchi, Gianluca Scuderi
PURPOSE: To describe an 8-year-old girl with diagnosis of Sturge-Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped "microdrusen-like" alterations of the retina in the right eye. PATIENT AND METHODS: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#5
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28450107/autophagy-regulates-endothelial-mesenchymal-transition-by-decreasing-the-phosphorylation-level-of-smad3
#6
Jing Wang, Yifan Feng, Yuping Wang, Danni Xiang, Xi Zhang, Fei Yuan
Transforming growth factor-beta2 (TGF-β2) induces Endothelial-Mesenchymal transition (EndoMT) and autophagy in a variety of cells. Previous studies have indicated that activation of autophagy might decrease TGF-β2 induced EndoMT. However, the precise role remains unclear. In the present study, we found that TGF-β2 could induce EndoMT and autophagy in human retinal microvascular endothelial cells (hRMECs). Activation of autophagy by Rapamycin or Trehalose could reduce the expression of Snail, demonstrating a role of autophagy in regulating Snail production both by transcriptional and post-transcriptional mechanism...
April 24, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#7
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28449038/real-time-imaging-of-single-neuronal-cell-apoptosis-in-patients-with-glaucoma
#8
Maria F Cordeiro, Eduardo M Normando, M Jorge Cardoso, Serge Miodragovic, Seham Jeylani, Benjamin M Davis, Li Guo, Sebastien Ourselin, Roger A'Hern, Philip A Bloom
Retinal cell apoptosis occurs in many ocular neurodegenerative conditions including glaucoma-the major cause of irreversible blindness worldwide. Using a new imaging technique that we have called DARC (detection of apoptosing retinal cells), which until now has only been demonstrated in animal models, we assessed if annexin 5 labelled with fluorescent dye DY-776 (ANX776) could be used safely in humans to identify retinal cell apoptosis. Eight patients with glaucomatous neurodegeneration and evidence of progressive disease, and eight healthy subjects were randomly assigned to intravenous ANX776 doses of 0...
April 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28448730/retinal-manifestations-of-juvenile-dermatomyositis-case-report-of-bilateral-diffuse-chorioretinopathy-with-paracentral-acute-middle-maculopathy-and-review-of-the-literature
#9
Rene Y Choi, Russell J Swan, Aimee Hersh, Albert T Vitale
PURPOSE: To review a case of bilateral diffuse chorioretinopathy as a presenting sign of juvenile dermatomyositis (JDM) and review the literature regarding retinal manifestations associated with this disease. METHODS: Review of case record and literature regarding retinal manifestations related to juvenile dermatomyositis. RESULTS: A 13-year-old girl presented with bilateral diffuse chorioretinopathy as the presenting sign of juvenile dermatomyositis...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28448727/long-term-outcomes-of-a-large-cohort-of-patients-with-eales-disease
#10
Jyotirmay Biswas, Reesha K R, Bikramjit Pal, Harshal P Gondhale, Ranju Kharel Sitaula
PURPOSE: To analyze the long-term visual outcomes of Eales' patients. METHODS: A retrospective review of Eales' patients diagnosed between 1985 and 1995 with >10 years follow-up done. RESULTS: We included 500 patients (898 eyes) with mean follow-up duration of 15.8 years (10-25 years), and 81% patients had bilateral disease. Patients using oral steroid during acute stage disease had significantly better visual outcome at the final visit [0...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28448726/intravitreal-injection-of-sulfamethoxazole-and-trimethoprim-associated-with-dexamethasone-as-an-alternative-therapy-for-ocular-toxoplasmosis
#11
Carlos E Souza, Heloisa Nascimento, Acácio Lima, Cristina Muccioli, Rubens Belfort
PURPOSE: To evaluate intravitreal injections of sulfamethoxazole/trimethoprim in association with dexamethasone for treating toxoplasmic retinochoroiditis. METHODS: Thirteen patients with active, recurrent ocular focal toxoplasmic retinochoroiditis and visual acuity worse than 20/63 in the affected eye were included. Ocular toxoplasmosis was diagnosed according to the classic clinical findings. The primary end point was the change in the final best-corrected visual acuity (BCVA)...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#12
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448551/characterization-of-physiological-defects-in-adult-sirt6-mice
#13
Victoria Peshti, Alexey Obolensky, Liat Nahum, Yariv Kanfi, Moran Rathaus, Maytal Avraham, Simon Tinman, Fredrick W Alt, Eyal Banin, Haim Y Cohen
The NAD+-dependent SIRT6 deacetylase was shown to be a major regulator of lifespan and healthspan. Mice deficient for SIRT6 develop a premature aging phenotype and metabolic defects, and die before four weeks of age. Thus, the effect of SIRT6 deficiency in adult mice is unknown. Here we show that SIRT6-/- mice in mixed 129/SvJ/BALB/c background reach adulthood, allowing examination of SIRT6-related metabolic and developmental phenotypes in adult mice. In this mixed background, at 200 days of age, more than 80% of the female knock-out mice were alive whereas only 10% of male knock-out mice survived...
2017: PloS One
https://www.readbyqxmd.com/read/28448532/a-selected-reaction-monitoring-mass-spectrometric-assessment-of-biomarker-candidates-diagnosing-large-cell-neuroendocrine-lung-carcinoma-by-the-scaling-method-using-endogenous-references
#14
Tetsuya Fukuda, Masaharu Nomura, Yasufumi Kato, Hiromasa Tojo, Kiyonaga Fujii, Toshitaka Nagao, Yasuhiko Bando, Thomas E Fehniger, György Marko-Varga, Haruhiko Nakamura, Harubumi Kato, Toshihide Nishimura
Selected reaction monitoring mass spectrometry (SRM-MS) -based semi-quantitation was performed to assess the validity of 46 selected candidate proteins for specifically diagnosing large-cell neuroendocrine lung carcinoma (LCNEC) and differentiating it from other lung cancer subtypes. The scaling method was applied in this study using specific SRM peak areas (AUCs) derived from the endogenous reference protein that normalizes all SRM AUCs obtained for the candidate proteins. In a screening verification study, we found that seven out of the 46 candidate proteins were statistically significant for the LCNEC phenotype, including 4F2hc cell surface antigen heavy chain (4F2hc/CD98) (p-ANOVA ≤ 0...
2017: PloS One
https://www.readbyqxmd.com/read/28448294/macular-ganglion-cell-and-retinal-nerve-fiber-layer-thickness-in-children-with-refractive-errors-an-optical-coherence-tomography-study
#15
Jody P Goh, Victor Koh, Yiong Huak Chan, Cheryl Ngo
PURPOSE: To study the distribution of macular ganglion cell-inner plexiform layer (GC-IPL) thickness and peripapillary retinal nerve fiber layer (RNFL) thickness in children with refractive errors. MATERIALS AND METHODS: Two hundred forty-three healthy eyes from 139 children with refractive error ranging from -10.00 to +5.00 D were recruited from the National University Hospital Eye Surgery outpatient clinic. After a comprehensive ocular examination, refraction, and axial length (AL) measurement (IOLMaster), macular GC-IPL and RNFL thickness values were obtained with a spectral domain Cirrus high definition optical coherence tomography system (Carl Zeiss Meditec Inc...
April 26, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28448238/single-dexamethasone-intravitreal-implant-in-the-treatment-of-noninfectious-uveitis
#16
Ariane Frère, Laure Caspers, Dorine Makhoul, Lia Judice, Laurence Postelmans, Xavier Janssens, Pierre Lefebvre, Christian Mélot, François Willermain
PURPOSE: To investigate the effect of a single intravitreal dexamethasone implant (IVT-DI; Ozurdex; Allergan, Inc.) on visual acuity, macular thickness, and intraocular pressure (IOP) in active noninfectious uveitis. METHODS: Medical records of patients with noninfectious active uveitis treated by IVT-DIs were retrospectively reviewed. Uveitis etiologies, treatment indications, best corrected visual acuity (BCVA), central retinal thickness measured by ocular coherence tomography, IOP, and systemic, local, and topical treatments were collected...
May 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28447781/artemisinin-protectes-retinal-neuronal-cells-against-oxidative-stress-and-restores-rat-retinal-physiological-function-from-light-exposed-damage
#17
Fengxia Yan, Hai-Tao Wang, Yang Gao, Jiang-Ping Xu, Wenhua Zheng
Oxidative stress plays a key role in the pathogenesis of age-related macular degeneration (AMD), a leading cause of severe visual loss and blindness in the aging population which lacks any effective treatments currently. In this study, artemisinin, a well-known anti-malarial drug was found to suppress hydrogen peroxide (H2O2)-induced cell death in retinal neuronal RGC-5 cells. Artemisinin, in the therapeutically relevant dosage, concentration-dependently attenuated the accumulation of intracellular reactive oxygen species (ROS), increased mitochondrial mitochondrial membrane potential and decreased cell apoptosis in RGC-5 cells induced by H2O2...
April 27, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28447713/tetramethylpyrazine-mediated-regulation-of-cxcr4-in-retinoblastoma-is-sensitive-to-cell-density
#18
Nandan Wu, Lijun Xu, Ying Yang, Na Yu, Zhang Zhang, Pei Chen, Jing Zhang, Mingjun Tang, Meng Yuan, Jian Ge, Keming Yu, Jing Zhuang
Retinoblastoma is the most common ocular tumor in children, and it causes extensive damage. Current treatment options for retinoblastoma include surgery, chemotherapy, radiotherapy and cryotherapy. However, the majority of chemotherapy medicines cause complications and side effects that lead to severe impairment of patient health. Previous studies have reported that tetramethylpyrazine (TMP), which is an extract of the Chinese herbal medicine Chuanxiong, reduces the risk of multidrug resistance in chemotherapy and inhibits the proliferation and metastasis of various types of cancer cells...
March 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28447589/neuroretinal-evaluation-using-optical-coherence-tomography-in-patients-affected-by-pituitary-tumors
#19
Yasar Altun, Ayse Sevgi Karadag, Seyho Cem Yucetas, Sadullah Saglam, A Z A Tak, Ilhan Cag, Yusuf Ehi
AIM: To investigate the thickness of the retinal nerve fiber layer (RNFL), the ganglion cell layer (GCL), inner plexiform layer (IPL), and choroid thickness (CT) in patients with pituitary tumours, microadenoma and macroadenoma, using spectral optical coherence tomography (OCT). METHODS: Thirty six patients who had micro and macroadenoma, and 34 healthy participants (control group) were included in the study. Spectral OCT was used to measure the RNFL, GCL, IPL, and CT values for all patients...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28447287/topography-and-correlation-of-radial-peripapillary-capillary-density-network-with-retinal-nerve-fibre-layer-thickness
#20
Tarannum Mansoori, Jayanthi Sivaswamy, Jahnavi Sai Gamalapati, Nagalla Balakrishna
PURPOSE: To analyse the expansion of radial peripapillary capillary (RPC) network with optical coherence tomography angiography (OCT-A) in normal human eyes and correlate RPC density with retinal nerve fibre layer thickness (RNFLT) at various distances from the optic nerve head (ONH) edge. METHODS: Fifty eyes of 50 healthy subjects underwent imaging with RTVue XR-100 Avanti OCT. OCT-A scans of Angio disc (6 × 6 mm) and Angio retina (8 × 8 mm) were combined to create a wide-field montage image of the RPC network...
April 26, 2017: International Ophthalmology
keyword
keyword
10788
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"