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https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#1
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913654/novel-small-molecule-jp-153-targets-the-src-fak-paxillin-signaling-complex-to-inhibit-vegf-induced-retinal-angiogenesis
#2
Jordan J Toutounchian, Jayaprakash Pagadala, Duane D Miller, Jerome Baudry, Frank Park, Edward Chaum, Charles R Yates
Targeting vascular endothelial growth factor (VEGF) is a common treatment strategy for neovascular eye disease, a major cause of vision loss in diabetic retinopathy and age-related macular degeneration. However, the decline in clinical efficacy over time in many patients suggests that monotherapy of anti-VEGF protein therapeutics may benefit from adjunctive treatments. Our previous work has shown that through decreased activation of the cytoskeletal protein paxillin, growth factor-induced ischemic retinopathy in the murine oxygen-induced retinopathy model could be inhibited...
January 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/27913447/comparison-of-oct-angiography-and-indocyanine-green-angiographic-findings-with-subtypes-of-polypoidal-choroidal-vasculopathy
#3
Koji Tanaka, Ryusaburo Mori, Akiyuki Kawamura, Hiroyuki Nakashizuka, Yu Wakatsuki, Mitsuko Yuzawa
PURPOSE: To compare the findings of optical coherence tomography angiography (OCTA) with indocyanine green angiography (ICGA) in polypoidal choroidal vasculopathy (PCV) that was divided into two types: polypoidal choroidal neovascularisation (CNV) and typical PCV (type 2 PCV). METHODS: We studied a retrospective case series of 32 patients with treatment-naïve PCV (24 men, eight women; mean age 65.4 years). PCV was categorised into polypoidal CNV (type 1 PCV) and type 2 PCV based on ICGA findings...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913445/rate-and-risk-factors-for-the-conversion-of-fovea-on-to-fovea-off-rhegmatogenous-retinal-detachment-while-awaiting-surgery
#4
Andreas Kontos, Tom H Williamson
BACKGROUND/AIMS: Progression of a fovea-on to a fovea-off rhegmatogenous retinal detachment (RRD) while awaiting surgery is rare. METHODS: A retrospective review of patient records to identify patients in whom a fovea-on retinal detachment at presentation was found to be fovea off at surgery. RESULTS: We identified 10 cases over 14 years which converted from fovea-on to fovea-off RRD while awaiting surgery. This represented 1.1% of RRDs that were fovea on at presentation (n=930)...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913444/correlation-of-retinal-arterial-wall-thickness-with-atherosclerosis-predictors-in-type-2-diabetes-without-clinical-retinopathy
#5
Shigeta Arichika, Akihito Uji, Tomoaki Murakami, Kiyoshi Suzuma, Norimoto Gotoh, Nagahisa Yoshimura
AIMS: To evaluate retinal arterial wall thickness (WT) using high-resolution retinal imaging in patients with type 2 diabetes and assess its correlation with risk factors for arteriosclerosis. METHODS: Outer diameter, inner diameter and WT of the retinal artery were measured using adaptive optics scanning laser ophthalmoscopy in 28 patients with type 2 diabetes without clinically apparent diabetic retinopathy and normal volunteers. Laboratory values and intima-media thickness (IMT) in the common carotid artery were measured...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913442/comparison-of-anti-vegf-therapies-on-fibrovascular-pigment-epithelial-detachments-in-age-related-macular-degeneration
#6
Adrian Au, Vishal S Parikh, Rishi P Singh, Justis P Ehlers, Alex Yuan, Aleksandra V Rachitskaya, Jonathan E Sears, Sunil K Srivastava, Peter K Kaiser, Andrew P Schachat, Daniel F Martin, Yasha Modi
BACKGROUND: The aim is to compare the therapeutic effects of three antivascular endothelial growth factor (VEGF) drugs (bevacizumab, aflibercept and ranibizumab) on fibrovascular pigment epithelial detachments (fvPEDs) in age-related macular degeneration (AMD). METHODS: This was a retrospective, comparative, consecutive case series of 88 unique eyes with fvPEDs in neovascular AMD treated with anti-VEGF monotherapy for a minimum of 6 months. All eyes were treatment naive...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913440/optical-coherence-tomographic-angiography-of-choroidal-neovascularization-ill-defined-with-fluorescein-angiography
#7
Mehrdad Malihi, Yali Jia, Simon S Gao, Christina Flaxel, Andreas K Lauer, Thomas Hwang, David J Wilson, David Huang, Steven T Bailey
PURPOSE: To evaluate the morphological structure of ill-defined choroidal neovascularisation (CNV) with traditional fluorescein angiography (FA) compared with optical coherence tomographic angiography (OCTA). METHODS: A retrospective case series study of 11 eyes with ill-defined CNV on FA was performed. Eyes were scanned with commercially available spectral-domain optical coherence tomography (OCT) (70 000 A-scans/s). The split-spectrum amplitude-decorrelation angiography (SSADA) algorithm was used to distinguish blood flow from static tissue...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913439/retinitis-pigmentosa-associated-cystoid-macular-oedema-pathogenesis-and-avenues-of-intervention
#8
REVIEW
S Strong, G Liew, M Michaelides
Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales, of which retinitis pigmentosa (RP) is the most common disorder. RP may be complicated by cystoid macular oedema (CMO), causing a reduction of central vision. The underlying pathogenesis of RP-associated CMO (RP-CMO) remains uncertain, however, several mechanisms have been proposed, including: (1) breakdown of the blood-retinal barrier, (2) failure (or dysfunction) of the pumping mechanism in the retinal pigment epithelial, (3) Müller cell oedema and dysfunction, (4) antiretinal antibodies and (5) vitreous traction...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913110/downregulated-brain-derived-neurotrophic-factor-induced-oxidative-stress-in-the-pathophysiology-of-diabetic-retinopathy
#9
REVIEW
Tapan Behl, Anita Kotwani
Brain-derived neurotrophic factor (BDNF), a member of neurotrophin growth factor family, physiologically mediates induction of neurogenesis and neuronal differentiation, promotes neuronal growth and survival and maintains synaptic plasticity and neuronal interconnections. Unlike the central nervous system, its secretion in the peripheral nervous system occurs in an activity-dependent manner. BDNF improves neuronal mortality, growth, differentiation and maintenance. It also provides neuroprotection against several noxious stimuli, thereby preventing neuronal damage during pathologic conditions...
November 29, 2016: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/27912129/incidence-of-complications-in-young-onset-diabetes-comparing-type-2-with-type-1-the-young-diab-study
#10
Anandakumar Amutha, Ranjit Mohan Anjana, Ulagamathesan Venkatesan, Harish Ranjani, Ranjit Unnikrishnan, K M Venkat Narayan, Viswanathan Mohan, Mohammed K Ali
BACKGROUND: There is little data on the incidence of diabetes complications in young onset type 1 diabetes (T1DM) and type 2 diabetes (T2DM) in non European populations. METHODS: From a tertiary diabetes centre, Chennai, India, we recruited 108 T1DM (defined by abrupt onset of symptoms or diabetic ketoacidosis, absent insulin reserve requiring insulin treatment) and 90 T2DM participants (defined by absence of ketosis, good beta-cell reserve, and good response to oral agents) who were diagnosed between the ages of 10 and 25years, and without any evidence of diabetes complications at diagnosis...
November 17, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27911838/antagonists-of-growth-hormone-releasing-hormone-receptor-induce-apoptosis-specifically-in-retinoblastoma-cells
#11
Wai Kit Chu, Ka Sin Law, Sun On Chan, Jason Cheuk Sing Yam, Li Jia Chen, Hao Zhang, Herman S Cheung, Norman L Block, Andrew V Schally, Chi Pui Pang
Retinoblastoma (RB) is the most common intraocular cancer in children worldwide. Current treatments mainly involve combinations of chemotherapies, cryotherapies, and laser-based therapies. Severe or late-stage disease may require enucleation or lead to fatality. Recently, RB has been shown to arise from cone precursor cells, which have high MDM2 levels to suppress p53-mediated apoptosis. This finding leads to the hypothesis that restoring apoptosis mechanisms in RBs could specifically kill the cancer cells without affecting other retinal cells...
November 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911769/reductive-carboxylation-is-a-major-metabolic-pathway-in-the-retinal-pigment-epithelium
#12
Jianhai Du, Aya Yanagida, Kaitlen Knight, Abbi L Engel, Anh Huan Vo, Connor Jankowski, Martin Sadilek, Van Thi Bao Tran, Megan A Manson, Aravind Ramakrishnan, James B Hurley, Jennifer R Chao
The retinal pigment epithelium (RPE) is a monolayer of pigmented cells that requires an active metabolism to maintain outer retinal homeostasis and compensate for oxidative stress. Using (13)C metabolic flux analysis in human RPE cells, we found that RPE has an exceptionally high capacity for reductive carboxylation, a metabolic pathway that has recently garnered significant interest because of its role in cancer cell survival. The capacity for reductive carboxylation in RPE exceeds that of all other cells tested, including retina, neural tissue, glial cells, and a cancer cell line...
December 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911706/using-induced-pluripotent-stem-cells-to-understand-retinal-ciliopathy-disease-mechanisms-and-develop-therapies
#13
REVIEW
David A Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J Coffey, Alison J Hardcastle, Michael E Cheetham
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27911705/disease-mechanisms-of-x-linked-retinitis-pigmentosa-due-to-rp2-and-rpgr-mutations
#14
REVIEW
Rodanthi Lyraki, Roly Megaw, Toby Hurd
Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. Although abnormalities in many pathways can cause photoreceptor degeneration, one of the most important causes is defective protein transport through the connecting cilium, the structure that connects the biosynthetic inner segment with the photosensitive outer segment of the photoreceptors. The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct mechanisms of protein delivery to the outer segment...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27911448/inverted-internal-limiting-membrane-flap-technique-as-a-useful-procedure-for-macular-hole-associated-retinal-detachment-in-highly-myopic-eyes
#15
H Sasaki, A Shiono, J Kogo, R Yomoda, Y Munemasa, M Syoda, H Otake, H Kurihara, Y Kitaoka, H Takagi
PurposeTo determine whether the inverted internal limiting membrane (ILM) flap technique contributes to high reattachment and closure rates in patients with macular hole-associated retinal detachment (MHRD).Patients and methodsIn all, 15 eyes of 15 patients with MHRD undergoing 25-gauge pars plana vitrectomy with the inverted ILM flap technique or ILM peeling. The patients were divided into the inverted ILM flap technique group (6 eyes) and ILM peeling group (9 eyes). The logarithm of minimal angle of resolution best-corrected visual acuity (BCVA) and retinal attachment and macular hole closure rates were compared between the two groups before and after surgery...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27911446/treatment-patterns-of-ranibizumab-intravitreal-injection-and-dexamethasone-intravitreal-implant-for-retinal-vein-occlusion-in-the-usa
#16
S Nghiem-Buffet, S Baillif, S Regnier, A Skelly, N Yu, A Sodi
PurposeRanibizumab, an anti-vascular endothelial growth factor, and dexamethasone, a corticosteroid, have been shown to be effective in treating macular oedema secondary to retinal vein occlusion (RVO) (central RVO (CRVO) and branch RVO (BRVO)). Their real-world usage, however, has yet to be compared. We therefore evaluated ophthalmology visits for both drugs using US patient-level data.MethodsThe IMS Health Real-World Data Medical Claims database was used to identify treatment-naive patients receiving ranibizumab intravitreal injections or dexamethasone intravitreal implants between June 2010 and February 2014 who had 12 months of follow-up data...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27911444/impact-of-optical-coherence-tomography-scanning-density-on-quantitative-analyses-in-neovascular-age-related-macular-degeneration
#17
S B Velaga, M G Nittala, R K Konduru, F Heussen, P A Keane, S R Sadda
PurposeTo assess the influence of varying B-scan frame-sampling densities on retinal thickness and volume measurements from spectral domain optical coherence tomography (OCT) in eyes with neovascular age-related macular degeneration (AMD).MethodsVolume OCT data (512 × 128 macular cube over 6 × 6 mm) were collected from 39 eyes with neovascular AMD. All 128 B-scans in each image set were manually segmented, allowing quantification of the neurosensory retina, subretinal fluid (SRF), subretinal hyperreflective material (SRHM), and pigment epithelium detachment (PED)...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27911427/-modern-approach-to-early-diagnosis-and-pathogenetic-treatment-of-diabetic-retinopathy
#18
I V Vorob'eva
AIM: To improve the approach to pathogenetic treatment of diabetic retinopathy (DR) through early diagnosis and a new method for predicting disease progression. MATERIAL AND METHODS: The study enrolled 330 type 2 diabetes patients with DR (660 eyes), of whom women constituted 64.6%, men - 35.4%. The mean patient age was 62.3±2.3 years. Three groups were formed: the controls - 30 healthy volunteers (60 eyes) and 30 type 2 diabetes patients without ocular involvement (DR 0, 60 eyes); group 1 - 30 type 2 diabetes patients with DR I but no diabetic macular edema (DR I without DME, 60 eyes) that were treated with calcium dobesilate; group 2 - 240 type 2 diabetes patients, who had diabetic retinopathy of different stages (DR I, II, or III with DME, 480 eyes) and received laser retinal photocoagulation (LRP)...
2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27911422/-diagnostic-potential-of-optical-coherence-tomography-for-small-choroidal-melanomas
#19
A F Brovkina, A S Stoyukhina, I V Musatkina
AIM: To investigate the sequence of OCT manifestations in choroidal melanoma (CM) with account to its growth. MATERIAL AND METHODS: A total of 28 CM patients were examined. Of them, 18 patients with early CM, 10 - with medium-sized CM. The mean patient age at diagnosis was 60.54±5.31 years. Tumor location was macular (15 eyes) or perimacular (13 eyes), its prominence varied from 0.98 to 4.9 mm and basal diameter - from 5.08 to 18.9 mm. Additionally to OCT, tumor autofluorescence was studied in all cases...
2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27911421/-analysis-of-changes-in-central-macular-thickness-based-on-optical-coherence-tomography-angiography-findings-in-retinal-vein-occlusion
#20
M V Budzinskaya, A V Shelankova, M A Mikhailova, A A Plyukhova, N M Nurieva, A V Fomin
AIM: To investigate the relationship between OCT angiography measurements and central fundus changes in patients with retinal vein occlusion (RVO). MATERIAL AND METHODS: The study enrolled 21 RVO patients aged from 55 to 86 years (69.9±2.28 years), including 8 patients with ischemic central RVO (I-CRVO; 73.6±3.4 years on average) and 13 patients with branch RVO (BRVO; 67.6±3.0 years on average). Of the latter, 8 cases were ischemic (I-BRVO) and 5 non-ischemic (NI-BRVO)...
2016: Vestnik Oftalmologii
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