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https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#1
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
April 17, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29666839/the-structure-of-the-nucleus-in-normal-and-neoplastic-prostate-cells-untangling-the-role-of-type-2-dna-topoisomerases
#2
REVIEW
William G Nelson, Michael C Haffner, Srinivasan Yegnasubramanian
Donald S. Coffey, a pioneer in the study of the structural basis of mammalian genome organization, was fascinated by DNA topoisomerases, chemo-mechanical enzymes that could catalyze changes in DNA structure. Work initiated in his laboratory and carried on with his influence and inspiration has led to the elucidation of specific roles for each of the two type 2 topoisomerases in DNA replication, RNA transcription, and androgen action in prostate cells. TOP2A principally acts in DNA synthesis elongation to prevent tangling of daughter DNA molecules during genome replication and mitotic segregation; TOP2B is required for androgen-stimulation of target gene transcription...
2018: American Journal of Clinical and Experimental Urology
https://www.readbyqxmd.com/read/29664981/intravitreal-ziv-aflibercept-for-diabetic-macular-edema-48-week-outcomes
#3
Gabriel Costa de Andrade, João Rafael de Oliveira Dias, André Maia, Michel Eid Farah, Carsten H Meyer, Eduardo Buchele Rodrigues
BACKGROUND AND OBJECTIVE: To study the safety and efficacy of intravitreal injections of ziv-aflibercept (IVI-ZA) (Zaltrap; Sanofi-Aventis and Regeneron Pharmaceuticals, Tarrytown, NY) during a period of 48 weeks in patients with diabetic macular edema (DME). PATIENTS AND METHODS: Seven consecutive patients with DME were enrolled and submitted to 12 consecutive IVI-ZA with a 4-week interval. The safety parameters included changes in full-field electroretinogram (ERG) and systemic or ocular complications, and the efficacy parameters were the mean change from baseline in best-corrected visual acuity (BCVA) and central retinal thickness (CRT)...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29643704/bioinformatic-analysis-of-the-possible-regulative-network-of-mir-30a-e-in-cardiomyocytes-2-days-post-myocardial-infarction
#4
Yiping Wang, Yingqiong Huang, Min Zhang, Xiaoqin Zhang, Xuemei Tang, Yan Kang
Background: Both miR-30a and miR-30e are significantly downregulated in cardiomyocytes (CMs) 2 days (d) post myocardial infarction (MI). This study aimed to identify their possible regulative network in CMs 2d post-MI. Methods: The dysregulated mRNAs in left ventricle tissues 2d post-MI in mice model were retrieved from one previous publication. The verified target genes of miR-30a/e and the predicted targets (upregulated 2d post-MI) were subjected to analysis of the involvement in biological processes according to their enrichment in gene ontology (GO) terms...
March 2018: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29629951/immunohistochemical-analysis-of-endothelial-cells-in-vascular-transformation-of-lymph-node-sinuses-vascular-or-lymphatic-differentiation
#5
Basma M Basha, Eric D Hsi
INTRODUCTION: Vascular transformation of sinuses (VTS) is an uncommon and benign lesion, defined by conversion of lymph node sinuses into complex, anatomizing and endothelial-lined channels. Despite the name of VTS, which implies a change in differentiation from lymphatic to vascular endothelium, very few studies have systematically examined VTS with modern immunohistochemical markers commonly used in clinical laboratories. It is unclear whether endothelial cells in VTS display pure vascular or lymphatic differentiation, or both...
April 7, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29628520/sun-to-earth-mhd-simulation-of-the-14-july-2000-bastille-day-eruption
#6
Tibor Török, Cooper Downs, Jon A Linker, R Lionello, Viacheslav S Titov, Zoran Mikić, Pete Riley, Ronald M Caplan, Janvier Wijaya
Solar eruptions are the main driver of space-weather disturbances at the Earth. Extreme events are of particular interest, not only because of the scientific challenges they pose, but also because of their possible societal consequences. Here we present a magnetohydrodynamic (MHD) simulation of the 14 July 2000 "Bastille Day" eruption, which produced a very strong geomagnetic storm. After constructing a "thermodynamic" MHD model of the corona and solar wind, we insert a magnetically stable flux rope along the polarity inversion line of the eruption's source region and initiate the eruption by boundary flows...
March 20, 2018: Astrophysical Journal
https://www.readbyqxmd.com/read/29625472/visual-cortex-activation-in-patients-with-stargardt-disease
#7
Paolo Melillo, Anna Prinster, Valentina Di Iorio, Gaia Olivo, Francesco Maria D'Alterio, Sirio Cocozza, Ada Orrico, Mario Quarantelli, Francesco Testa, Arturo Brunetti, Francesca Simonelli
Purpose: Primary visual cortex (PVC) contains a retinotopic map in which the central visual field (CVF) is highly magnified compared to the peripheral field. Several studies have used functional magnetic resonance imaging (fMRI) in patients with macular degeneration to assess the reorganization of visual processing in relationship with the development of extrafoveal preferred retinal locus (PRL). We evaluated the functional response in PVC and its correlation with retinal parameters in patients with Stargardt disease due to ABCA4 mutations (STGD1)...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29623252/intraocular-inflammation-in-a-case-of-bee-sting-injury
#8
Ekta Rishi, Pukhraj Rishi
A19-year-old man presented with decreased vision in the right eye following a bee sting injury, ten days back. Examination revealed conjunctival hyperemia at the site of the sting, anterior uveitis, vitritis, mild disc hyperemia, ocular hypotony, and striae at macula. Treatment was initiated elsewhere with topical antibiotics, steroid, and cycloplegic. Systemic steroids were added. Three weeks later, vitiritis resolved, intraocular pressure became normal and the vision improved from 20/60 to 20/20. However, a chorioretinal atrophy in the vicinity of the sting site was noted...
2018: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/29617054/activation-of-voltage-gated-sodium-current-and-inhibition-of-erg-mediated-potassium-current-caused-by-telmisartan-an-antagonist-of-angiotensin-ii-type-1-receptor-in-hl-1-atrial-cardiomyocytes
#9
Wei-Ting Chang, Sheng-Nan Wu
Telmisartan (TEL) is a non-peptide blocker of angiotensin II type-1 (AT1 ) receptor. However, the mechanisms through which this drug interacts directly with ion currents in hearts remain largely unclear. Herein, we aim to investigate the effects of TEL the on ionic currents and membrane potential of murine HL-1 cardiomyocytes. In whole-cell recordings, addition of TEL stimulated the peak and late components of voltage-gated Na+ currents (IN a ) with different potencies. The EC50 values required to achieve the stimulatory effect of this drug on peak and late IN a were 0...
April 4, 2018: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29615095/loss-of-xbp1-accelerates-age-related-decline-in-retinal-function-and-neurodegeneration
#10
Todd McLaughlin, Marek Falkowski, Jae Whan Park, Stephen Keegan, Michael Elliott, Joshua J Wang, Sarah X Zhang
BACKGROUND: Aging is the strongest risk factor for neurodegenerative diseases and extended age results in neuronal degeneration and functional decline in the visual system. Among many contributing factors to age-related deterioration of neurons is an insufficient activation of the Unfolded Protein Response (UPR) in the endoplasmic reticulum (ER) in response to cellular stress. X-box binding protein 1 (XBP1) is a major component of the UPR and is essential for maintaining protein homeostasis and reducing cellular stresses...
April 4, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29607799/l-ergothioneine-improves-the-developmental-potential-of-in-vitro-sheep-embryos-without-influencing-octn1-mediated-cross-membrane-transcript-expression
#11
A Mishra, I J Reddy, A Dhali, P K Javvaji
SummaryThe objective of the study was to investigate the effect of l-ergothioneine (l-erg) (5 mM or 10 mM) supplementation in maturation medium on the developmental potential and OCTN1-dependant l-erg-mediated (10 mM) change in mRNA abundance of apoptotic (Bcl2, Bax, Casp3 and PCNA) and antioxidant (GPx, SOD1, SOD2 and CAT) genes in sheep oocytes and developmental stages of embryos produced in vitro. Oocytes matured with l-erg (10 mM) reduced their embryo toxicity by decreasing intracellular ROS and increasing intracellular GSH in matured oocytes that in turn improved developmental potential, resulting in significantly (P < 0...
April 2, 2018: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/29603933/human-s-cone-electroretinograms-obtained-by-silent-substitution-stimulation
#12
J Maguire, N R A Parry, J Kremers, I J Murray, D McKeefry
We used triple silent substitution stimuli to characterize human S-cone electroretinograms (ERGs) in normal trichromats. Short-wavelength-cone (S-cone) ERGs were found to have different morphological features and temporal frequency response characteristics compared to ERGs derived from L-cones, M-cones, and rod photoreceptors in normal participants. Furthermore, in two cases of retinal pathology, blue cone monochromatism (BCM) and enhanced S-cone syndrome (ESCS), S-cone ERGs elicited by our stimuli were preserved and enhanced, respectively...
April 1, 2018: Journal of the Optical Society of America. A, Optics, Image Science, and Vision
https://www.readbyqxmd.com/read/29603930/electroretinographical-determination-of-human-color-vision-type
#13
Avinash J Aher, Cristiane M G Martins, Mirella T S Barboni, Balazs V Nagy, Einat Hauzman, Daniela M O Bonci, Dora F Ventura, Jan Kremers
It has been previously demonstrated that electroretinography (ERG) elicited by heterochromatically modulated stimuli can be used for objective determination of color vision type. Color vision of trichromatic, deuteranopic, and protanopic participants was psychophysically assessed by the Cambridge Color Test and confirmed genetically. ERG responses to red and green lights modulating in counterphase at 12 and 36 Hz were recorded, while the fraction of red modulation was varied. At 36 Hz (and second harmonics at 12 Hz), the responses were minimal at red fractions that differed significantly in protanopes...
April 1, 2018: Journal of the Optical Society of America. A, Optics, Image Science, and Vision
https://www.readbyqxmd.com/read/29603924/paradoxical-pupil-responses-to-isolated-m-cone-increments
#14
Ian J Murray, Jan Kremers, Declan McKeefry, Neil R A Parry
M-cone onsets appear dimmer than the background and elicit electroretinograms (ERGs) resembling the light offset response. We sought a corresponding anomalous pupillary light reflex (PLR) using a 4-primary ganzfeld as stimulator and pupillometer. Increments and decrements of white light were compared with M- and L-cone onsets and offsets using silent substitution. Luminance bias (LB) could be added to or subtracted from the cone-isolating stimuli. There was a normal PLR to L-cone increments, but the pupil constricted mainly to M-cone decrements...
April 1, 2018: Journal of the Optical Society of America. A, Optics, Image Science, and Vision
https://www.readbyqxmd.com/read/29600384/paclitaxel-as-albumin-bound-nanoparticles-with-gemcitabine-for-untreated-metastatic-pancreatic-cancer-an-evidence-review-group-perspective-of-a-nice-single-technology-appraisal
#15
REVIEW
Angela Stainthorpe, Janette Greenhalgh, Adrian Bagust, Marty Richardson, Angela Boland, Sophie Beale, Rui Duarte, Eleanor Kotas, Lindsay Banks, Daniel Palmer
As part of the single technology appraisal (STA) process, the National Institute for Health and Care Excellence (NICE) invited Celgene Ltd to submit clinical and cost-effectiveness evidence for paclitaxel as albumin-bound nanoparticles (Nab-Pac) in combination with gemcitabine (Nab-Pac + Gem) for patients with untreated metastatic pancreatic cancer. The STA was a review of NICE's 2015 guidance (TA360) in which Nab-Pac + Gem was not recommended for patients with untreated metastatic pancreatic cancer...
March 29, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29597047/nanomagnetic-modulation-of-tumor-redox-state
#16
Valerii E Orel, Marina Tselepi, Thanos Mitrelias, Alexander Rykhalskyi, Andriy Romanov, Valerii B Orel, Anatoliy Shevchenko, Anatoliy Burlaka, Sergey Lukin, Crispin Barnes
Modulation of reactive oxygen and nitrogen species in a tumor could be exploited for nanotherapeutic benefits. We investigate the antitumor effect in Walker-256 carcinosarcoma of magnetic nanodots composed of doxorubicin-loaded Fe3 O4 nanoparticles combined with electromagnetic fields. Treatment using the magnetic nanodot with the largest hysteresis loop area (3402 erg/g) had the greatest antitumor effect with the minimum growth factor 0.49 ± 0.02 day-1 (compared to 0.58 ± 0.02 day-1 for conventional doxorubicin)...
March 26, 2018: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/29594951/obinutuzumab-with-bendamustine-for-treating-follicular-lymphoma-refractory-to-rituximab-an-evidence-review-group-perspective-of-a-nice-single-technology-appraisal
#17
REVIEW
Rachid Rafia, Abdullah Pandor, Sarah Davis, John W Stevens, Sue Harnan, Mark Clowes, Youssef Sorour, Robert Cutting
As part of its single technology appraisal process, the UK National Institute for Health and Care Excellence (NICE) invited the manufacturer of obinutuzumab (Roche) to submit evidence on its clinical and cost effectiveness when used in combination with bendamustine in patients with follicular lymphoma (FL) refractory to rituximab. The Evidence Review Group (ERG), the School of Health and Related Research Technology Appraisal Group at the University of Sheffield, produced a document summarising the key points from the company submission alongside a critical review...
March 28, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29582406/reslizumab-for-treating-asthma-with-elevated-blood-eosinophils-inadequately-controlled-by-inhaled-corticosteroids-an-evidence-review-group-perspective-of-a-nice-single-technology-appraisal
#18
REVIEW
Keith Cooper, Geoff Frampton, Petra Harris, Micah Rose, Maria Chorozoglou, Karen Pickett
As part of the National Institute for Health and Care Excellence (NICE) Single Technology Appraisal (STA) process, the manufacturer of reslizumab (Teva) submitted evidence for its clinical and cost effectiveness for the treatment of eosinophilic asthma inadequately controlled by inhaled corticosteroids. NICE commissioned Southampton Health Technology Assessments Centre (SHTAC) as an independent Evidence Review Group (ERG) to provide a critique of the manufacturer's submitted evidence. Reslizumab is compared with best standard of care and omalizumab, for a small 'overlap' population of patients who have both eosinophilic and IgE-mediated severe asthma...
March 26, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29582320/soft-tissue-sarcomas-new-opportunity-of-treatment-with-parp-inhibitors
#19
Monica Mangoni, Mariangela Sottili, Giulia Salvatore, Domenico Campanacci, Guido Scoccianti, Giovanni Beltrami, Camilla Delli Paoli, Luca Dominici, Virginia Maragna, Emanuela Olmetto, Icro Meattini, Isacco Desideri, Pierluigi Bonomo, Daniela Greto, Lorenzo Livi
BACKGROUND: Poly(ADP-ribose) polymerases (PARP) are a large family of enzymes involved in several cellular processes, including DNA single-strand break repair via the base-excision repair pathway. PARP inhibitors exert antitumor activity by both catalytic PARP inhibition and PARP-DNA trapping, moreover PARP inhibition represents a potential synthetic lethal approach against cancers with specific DNA-repair defects. Soft tissue sarcoma (STSs) are a heterogeneous group of mesenchymal tumors with locally destructive growth, high risk of recurrence and distant metastasis...
March 26, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29581856/fibroblast-growth-factor-receptor-signaling-plays-a-key-role-in-transformation-induced-by-the-tmprss2-erg-fusion-gene-and-decreased-pten
#20
Longjiang Shao, Jianghua Wang, Omer Faruk Karatas, Shu Feng, Yiqun Zhang, Chad J Creighton, Michael Ittmann
Prostate cancer is the most common visceral malignancy and the second leading cause of cancer deaths in US men. Correlative studies in human prostate cancers reveal a frequent association of the TMPRSS2/ERG (TE) fusion gene with loss of PTEN and studies in mouse models reveal that ERG expression and PTEN loss synergistically promote prostate cancer progression. To determine the mechanism by which ERG overexpression and PTEN loss leads to transformation, we overexpressed the TE fusion gene and knocked down PTEN in an immortalized but non-transformed prostate epithelial cell line...
March 6, 2018: Oncotarget
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