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https://www.readbyqxmd.com/read/28176803/three-novel-ano5-missense-mutations-in-caucasian-and-chinese-families-and-sporadic-cases-with-gnathodiaphyseal-dysplasia
#1
Lingling Jin, Yi Liu, Fanyue Sun, Michael T Collins, Keith Blackwell, Albert S Woo, Ernst J Reichenberger, Ying Hu
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28176011/implantation-of-a-second-glaucoma-drainage-device
#2
Brian A Francis, Rodrigo A B Fernandes, Handan Akil, Vikas Chopra, Bruno Diniz, James Tan, Alex Huang
PURPOSE: To evaluate success rates in controlling intraocular pressure (IOP) after implantation of a second glaucoma drainage device (GDD) with a Baerveldt glaucoma implant in patients with refractory glaucoma, with a secondary aim of reducing the need for postoperative glaucoma medications. MATERIAL AND METHODS: This retrospective, noncomparative, interventional study included patients undergoing a second GDD for uncontrolled glaucoma from a tertiary care glaucoma service...
February 7, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28158058/dispersive-mirror-for-the-mid-infrared-spectral-range-of-9-11-5%C3%A2-%C3%A2-%C3%AE-m
#3
Florian Habel, Vladimir Pervak
A dispersive multilayer interference mirror with a group delay dispersion (GDD) of +1500  fs<sup>2</sup> for the spectral range of 9-11.5 μm is presented. It is designed to compensate the GDD of an ultrashort light pulse gained when transmitting 1 mm of a zinc selenide substrate. The coating process for the mirror manufacturing is described. The optical properties of the mirror are fully characterized by measuring the group delay, the GDD, the reflectance, and the transmittance.
February 1, 2017: Applied Optics
https://www.readbyqxmd.com/read/28144751/glaucoma-drainage-device-surgery-in-children-and-adults-a-comparative-study-of-outcomes-and-complications
#4
Achilleas Mandalos, Velota Sung
PURPOSE: To compare the postoperative outcomes and complications of glaucoma drainage device (GDD) surgery in pediatric (<18 years old) and adult patients. METHODS: Retrospective, comparative study including all patients who underwent Baervedlt or Molteno device surgery by the same surgeon. Success criteria included postoperative intraocular pressure (IOP) between 6 and 21 mmHg and a 20% reduction from baseline. RESULTS: Fifty-two children (69 eyes) and 130 adults (145 eyes) were included...
February 1, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28138212/retrospective-comparison-of-intermediate-term-efficacy-of-350-mm-2-glaucoma-drainage-implants-and-medium-sized-230-250-mm-2-implants
#5
Alissa M Meyer, Cooper D Rodgers, Baiming Zou, Nicole C Rosenberg, Aaron D Webel, Mark B Sherwood
AIM: To compare the intermediate-term efficacy of a large surface area Baerveldt 350 mm(2) glaucoma drainage device (GDD) with medium surface area implants (Baerveldt 250 mm(2) and Molteno 3, 230, or 245 mm(2)). DESIGN: This is a retrospective, nonrandomized comparative trial. MATERIALS AND METHODS: A total of 94 eyes of 94 patients of mixed glaucoma diagnoses without any prior glaucoma surgical procedures and who had undergone a glaucoma drainage implant surgery with either a large Baerveldt 350 mm(2) GDD or a medium-sized GDD (Baerveldt 250 mm(2) or Molteno 230 or 245 mm(2)) were reviewed for intraocular pressure (IOP), number of glaucoma medications, and visual acuity (VA) preoperatively, and at 1, 2, and 3 years postprocedure...
January 2017: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/28138210/relationship-between-glaucoma-drainage-device-size-and-intraocular-pressure-control-does-size-matter
#6
EDITORIAL
Cooper D Rodgers, Alissa M Meyer, Mark B Sherwood
: There is ambiguity in the literature regarding whether a larger glaucoma drainage device (GDD) achieves a lower long-term intraocular pressure (IOP). There is some evidence on both sides, but overall there seems to be an optimal surface area of approximately 200-250 mm(2) beyond which there may be little advantage to increasing the plate size for most patients. HOW TO CITE THIS ARTICLE: Rodgers CD, Meyer AM, Sherwood MB. Relationship between Glaucoma Drainage Device Size and Intraocular Pressure Control: Does Size Matter? J Curr Glaucoma Pract 2017;11(1):1-2...
January 2017: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/28104502/staying-away-from-the-optic-nerve-a-formula-for-modifying-glaucoma-drainage-device-surgery-in-pediatric-and-other-small-eyes
#7
Milica A Margeta, Anthony N Kuo, Alan D Proia, Sharon F Freedman
PURPOSE: To provide guidelines for safe implantation of glaucoma drainage devices (GDDs) in small and pediatric eyes to avoid contact between the optic nerve (ON) and the posterior edge of the GDD plate. METHODS: We developed a formula for calculating limbus-to-ON distance to estimate the available "real estate" for GDD placement in small eyes. The formula was validated using eyes of pediatric decedents undergoing clinical autopsy, with axial lengths (AL) of 15-24 mm...
January 16, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#8
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28072826/rna-dependent-rna-polymerases-of-both-virulent-and-benign-rabbit-caliciviruses-induce-striking-rearrangement-of-golgi-membranes
#9
Nadya Urakova, Tanja Strive, Michael Frese
The extremely pathogenic Rabbit haemorrhagic disease virus (RHDV) and the completely benign Rabbit calicivirus (RCV) are closely related members of the genus Lagovirus (family Caliciviridae). The molecular mechanisms that determine the dramatic difference in virulence are unknown, but indirect evidence suggests that different properties of their RNA-dependent RNA polymerases (RdRps) may at least partially be responsible for the contrasting phenotypes. Here we report that the unusual ability of the RHDV RdRp to induce a striking rearrangement of the Golgi network is not specific to RHDV, but a common feature of virulent and benign rabbit caliciviruses alike...
2017: PloS One
https://www.readbyqxmd.com/read/28018421/differences-in-crenate-broomrape-parasitism-dynamics-on-three-legume-crops-using-a-thermal-time-model
#10
Alejandro Pérez-de-Luque, Fernando Flores, Diego Rubiales
Root parasitic weeds are a major limiting production factor in a number of crops, and control is difficult. Genetic resistance and chemical control lead the fight, but without unequivocal success. Models that help to describe and even predict the evolution of parasitism underground are a valuable tool for herbicide applications, and even could help in breeding programs. Legumes are heavily affected by Orobanche crenata (crenate broomrape) in the Mediterranean basin. This work presents a descriptive model based on thermal time and correlating growing degree days (GDD) with the different developmental stages of the parasite...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27871763/diplopia-in-medically-and-surgically-treated-patients-with-glaucoma
#11
Philip Y Sun, David A Leske, Jonathan M Holmes, Cheryl L Khanna
PURPOSE: To report the prevalence, type, and cause of diplopia in medically and surgically treated patients with glaucoma. DESIGN: Cohort study. PARTICIPANTS: A total of 195 adult patients with glaucoma treated in a glaucoma referral practice. METHODS: A total of 195 adult patients with glaucoma who had undergone surgical or medical management were prospectively enrolled. Forty-seven patients had undergone glaucoma drainage device (GDD) surgery (Baerveldt 350, Baerveldt 250 [Abbott Medical Optics, Abbott Park, IL], or Ahmed FP7 [New World Medical Inc, Rancho Cucamonga, CA]), 61 patients had undergone trabeculectomy, and 87 patients were medically treated...
February 2017: Ophthalmology
https://www.readbyqxmd.com/read/27869685/three-dimensional-biologically-relevant-spectrum-brs-3d-shape-similarity-profile-based-on-pdb-ligands-as-molecular-descriptors
#12
Ben Hu, Zheng-Kun Kuang, Shi-Yu Feng, Dong Wang, Song-Bing He, De-Xin Kong
The crystallized ligands in the Protein Data Bank (PDB) can be treated as the inverse shapes of the active sites of corresponding proteins. Therefore, the shape similarity between a molecule and PDB ligands indicated the possibility of the molecule to bind with the targets. In this paper, we proposed a shape similarity profile that can be used as a molecular descriptor for ligand-based virtual screening. First, through three-dimensional (3D) structural clustering, 300 diverse ligands were extracted from the druggable protein-ligand database, sc-PDB...
November 17, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27860168/use-of-a-350-mm-2-baerveldt-glaucoma-drainage-device-to-maintain-vision-and-control-intraocular-pressure-in-dogs-with-glaucoma-a-retrospective-study-2013-2016
#13
Kathleen L Graham, David Donaldson, Francis A Billson, F Mark Billson
OBJECTIVE: To evaluate the 350-mm(2) Baerveldt glaucoma drainage device (GDD) in dogs with refractory glaucoma when modifications to address postoperative hypotony (extraluminal ligature; intraluminal stent) and the fibroproliferative response (intraoperative Mitomycin-C; postoperative oral colchicine and prednisolone) are implemented as reported in human ophthalmology. DESIGN: Retrospective case series. ANIMALS: Twenty-eight client-owned dogs (32 eyes) including seven dogs (nine eyes) with primary glaucoma and 21 dogs (23 eyes) with secondary glaucoma...
November 16, 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27857488/porosity-of-bleb-capsule-declines-rapidly-with-fluid-challenge
#14
Surinder S Pandav, Craig M Ross, Faisal Thattaruthody, Ritambhra Nada, Nirbhai Singh, Natasha Gautam, Stephen Beirne, Gordon G Wallace, Mark B Sherwood, Jonathan G Crowston, Michael Coote
INTRODUCTION: The porosity of the fibrous capsule around a glaucoma drainage device (GDD) may be the most important functional attribute. The factors that determine capsular porosity are not well understood. Failed GDD surgeries are usually associated with thick impervious capsules and components of aqueous have been implicated in this process. PURPOSE: In this study, we interrogated the effect of passage of nonaqueous fluid on capsular porosity in mature (but aqueous naïve) blebs in a previously reported GDD model (the "Center for Eye Research Australia Implant")...
September 2016: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/27614591/safety-of-concurrent-boston-type-i-keratoprosthesis-and-glaucoma-drainage-device-implantation
#15
Tamara L Lenis, Stephan Y Chiu, Simon K Law, Fei Yu, Anthony J Aldave
PURPOSE: To evaluate the safety of concurrent Boston type I keratoprosthesis (KPro) and glaucoma drainage device (GDD) implantation. DESIGN: Retrospective comparative study of a consecutive cohort of patients. SUBJECTS: Patients who underwent KPro implantation by a single surgeon (A.J.A.) with or without 1 concurrent Ahmed GDD (New World Medical, Inc., Rancho Cucamonga, CA) implantation between January 1, 2005, and January 31, 2015, were included...
January 2017: Ophthalmology
https://www.readbyqxmd.com/read/27612183/design-and-performance-of-a-large-lumen-glaucoma-drainage-device
#16
J L Olson, S Groman-Lupa
PurposeWe report the in vivo testing of a large-lumen glaucoma drainage (LL-GDD) device equipped with a flow regulator. The device's membrane can be non-invasively opened with laser in the postoperative period to adjust aqueous flow and intraocular pressure.MethodsThe initial LL-GDD prototypes were constructed using 22 G silicone angiocatheters cut down to size. A 10 nm PVDF membrane was then affixed to the end using cyanoacrylate. The LL-GDD was tested first in a model eye equipped with ports for infusion and pressure measurement and in New Zealand rabbits...
January 2017: Eye
https://www.readbyqxmd.com/read/27570215/endoscopic-cyclophotocoagulation-versus-second-glaucoma-drainage-device-after-prior-aqueous-tube-shunt-surgery
#17
Yohko Murakami, Handan Akil, Jasdeep Chahal, Laurie Dustin, James Tan, Vikas Chopra, Brian Francis
BACKGROUND: To evaluate the efficacy in controlling intraocular pressure (IOP) with endoscopic cyclophotocoagulation (ECP) versus implantation of a second glaucoma drainage device (GDD-2) in the treatment of uncontrolled glaucoma with a prior aqueous tube shunt. DESIGN: A nonrandomized retrospective chart review. PARTICIPANTS: Patients with refractory glaucoma following a failed initial tube shunt (Baerveldt Glaucoma Implant 350), who underwent ECP or GDD-2 with Baerveldt Glaucoma Implant as a second surgery...
August 28, 2016: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/27557259/high-dispersive-mirrors-for-erbium-doped-fiber-chirped-pulse-amplification-system
#18
Yu Chen, Yanzhi Wang, Linjun Wang, Meiping Zhu, Hongji Qi, Jianda Shao, Xiaojun Huang, Sheng Yang, Chao Li, Kainan Zhou, Qihua Zhu
We report on the development of near-infrared high dispersive mirrors (HDM) with a group delay dispersion (GDD) of -2000 fs<sup>2</sup>. A HDM pair based on one optimized result at two reference wavelengths (1550 nm and 1560 nm) can reduce the total oscillation of the GDD effectively in the wavelength range of 1530-1575 nm. This HDM pair is designed and fabricated in a single coating run by means of the nonuniformity in film deposition. For the first time, near-infrared HDMs with two different reference wavelengths have been successfully applied in an erbium-doped fiber chirped pulse amplification system for the compression of 4...
August 22, 2016: Optics Express
https://www.readbyqxmd.com/read/27541832/a-novel-ano5-mutation-causing-gnathodiaphyseal-dysplasia-with-high-bone-turnover-osteosclerosis
#19
Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, Ralf Oheim
Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome that involves an osteopetrosis-like sclerosis of the long bones and fibrous dysplasia-like cemento-osseous lesions of the jawbone. Although the genetic analysis of the respective patients has revealed mutations in the ANO5 gene as an underlying cause, there is still no established consensus regarding the bone status of GDD patients. We report a new case of GDD in a 13-year-old boy with recurrent diaphyseal fractures of the femur, in whom we identified a novel de novo missense mutation in the ANO5 gene, causing a p...
August 19, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27524006/porous-biomorphic-silicon-carbide-ceramics-coated-with-hydroxyapatite-as-prospective-materials-for-bone-implants
#20
Oleksandr Gryshkov, Nickolai I Klyui, Volodymyr P Temchenko, Vitalii S Kyselov, Anamika Chatterjee, Alexander E Belyaev, Lothar Lauterboeck, Dmytro Iarmolenko, Birgit Glasmacher
Porous and cytocompatible silicon carbide (SiC) ceramics derived from wood precursors and coated with bioactive hydroxyapatite (HA) and HA-zirconium dioxide (HA/ZrO2) composite are materials with promising application in engineering of bone implants due to their excellent mechanical and structural properties. Biomorphic SiC ceramics have been synthesized from wood (Hornbeam, Sapele, Tilia and Pear) using a forced impregnation method. The SiC ceramics have been coated with bioactive HA and HA/ZrO2 using effective gas detonation deposition approach (GDD)...
November 1, 2016: Materials Science & Engineering. C, Materials for Biological Applications
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