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Adi Einan-Lifshitz, Avner Belkin, David Mathew, Nir Sorkin, Clara C Chan, Yvonne M Buys, Graham E Trope, David S Rootman
PURPOSE: To assess the long-term outcomes of GDD exposure repair with corneal lamellar patch graft covered by a buccal mucous membrane graft sutured to surrounding conjunctiva. METHODS: In this retrospective longitudinal study, the charts of all patients who underwent buccal mucous membrane grafts combined with corneal lamellar patch grafts for exposed GDD tubes between the years 2006 to 2013 were reviewed. A minimum follow-up of 3 years was required for inclusion...
March 19, 2018: Journal of Glaucoma
Vivian L Qin, Mona Kaleem, Felipe F Conti, Edward J Rockwood, Annapurna Singh, Shalini Sood-Mendiratta, Jonathan E Sears, Fabiana Q Silva, Jonathan Eisengart, Rishi P Singh
PURPOSE: To compare long-term surgical outcomes and complications of pars plana (PP) tube implantation with conventional anterior chamber (AC) tube implantation. METHODS: Records of patients undergoing glaucoma tube implant surgery at a single institution between 2007-2015 were retrospectively reviewed. Eyes were matched for glaucoma diagnosis and patient age. Demographics, baseline characteristics, and treatment outcomes were recorded. Surgical success was defined as intraocular pressure (IOP) between 6-21▒mm Hg, no subsequent glaucoma surgeries performed, and at least light perception vision...
March 8, 2018: Journal of Glaucoma
Mohamed Moustafa Said, Takafumi Otomaru, Ayako Kanazaki, Haruka Fujita, Hisashi Taniguchi
This case history report describes the long-term prosthodontic treatment of a patient with gnathodiaphyseal dysplasia (GDD). The patient was initially diagnosed with osteomyelitis in the maxilla in 1986, followed by osteonecrosis spread throughout the mandible. GDD was genetically diagnosed in 2006. Despite the severe alveolar bone resorption, prosthodontic treatment improved the patient's satisfaction and ability to perform essential functions. Regular prosthesis adjustments and periodic follow-up should continue to avoid future complications...
March 2018: International Journal of Prosthodontics
Vanita Pathak Ray, Divya P Rao
PURPOSE: To report the early outcomes in terms of efficacy and safety of a new, indigenously manufactured, low-cost non-valved drainage device (Aurolab Aqueous Drainage Implant, AADI) in the management of refractory glaucomas in the Indian population. METHODS: Retrospective review of consecutive patients >12years, who underwent glaucoma drainage device surgery (GDD) via AADI, by a single fellowship-trained surgeon, between January 2014 and December 2016, who had at least 3 months of documented post-op follow-up...
March 2, 2018: Journal of Glaucoma
Justin D Harvey, Ronald L Gross, Brian D McMillan
Purpose: This reports a case using fibrin glue to secure a glaucoma drainage device plate to the sclera where there is a concern with the use of suture. Observations: A 13-year-old patient with congenital aniridia and associated glaucoma refractory to topical medications underwent implantation of a glaucoma drainage device (GDD) for improved intraocular pressure (IOP) control. The patient had substantial scleral thinning with staphyloma formation, potentially making the use of traditional suturing techniques problematic...
March 2018: American Journal of Ophthalmology Case Reports
Blake K Williamson, Nathan M Hawkey, Diane A Blake, Joshua W Frenkel, Kevin P McDaniel, Justin K Davis, Celine Satija, Alex Beazer, Suraj Dhungana, James Carlson, Susan McRitchie, Ramesh S Ayyala
Purpose: Glaucoma drainage device (GDD) implantation can lead to corneal decompensation. We evaluated changes over time in oxygen tension and in the metabolic environment of the aqueous humor after GDD implantation in the rabbit eye. Methods: Ahmed Glaucoma Valves were implanted in the left eyes of eight male New Zealand white rabbits. Right eyes were used as a control. Oxygen tension was measured immediately before surgery and at 1 and 2 months postoperation. Aqueous humor was collected from the surgical and control eyes at 1, 2, and 5 months postoperation...
February 2018: Translational Vision Science & Technology
Richard C Semelka, Miguel Ramalho, Michael Jay, Lisa Hickey, Joseph Hickey
OBJECTIVES: The aim of this study was to report the use of intravenous calcium (Ca)-/zinc (Zn)-diethylene triamine penta-acetic acid (DTPA) for the treatment of 25 symptomatic patients diagnosed with gadolinium deposition disease (GDD). MATERIALS AND METHODS: Written informed consent was obtained. Twenty-five patients (18 women; mean age, 46.8 ± 15.3 years) with a diagnosis of GDD were included. All patients had received at least 1 administration of a gadolinium (Gd)-based contrast agent...
February 6, 2018: Investigative Radiology
Kathleen L Graham, Evelyn J S Hall, Charles Caraguel, Andrew White, Francis A Billson, F Mark Billson
OBJECTIVE: To compare outcomes following trans-scleral cyclophotocoagulation (TSCP) and 350-mm2 Baerveldt implantation in the treatment of canine refractory glaucoma. DESIGN: Retrospective case study. CASE SELECTION: Client owned dogs undergoing surgical treatment of glaucoma within a veterinary referral hospital. PROCEDURES: Eighty-six glaucoma surgeries were performed on 83 eyes (69 dogs) diagnosed with primary or secondary glaucoma...
January 31, 2018: Veterinary Ophthalmology
Reza Alizadeh, Handan Akil, James Tan, Simon K Law, Joseph Caprioli
PURPOSE: To evaluate outcomes of trabeculectomy with adjunctive mitomycin C in patients with uncontrolled intraocular pressure (IOP) after glaucoma drainage device implantation. MATERIALS AND METHODS: Consecutive patients who had undergone a trabeculectomy after GDD were reviewed. The primary outcome was surgical success with stratified IOP targets based on the following criteria: (A) IOP<18 mm Hg and IOP reduction of 20%; (B) IOP<15 mm Hg and IOP reduction of 25%; (C) IOP<12 mm Hg and IOP reduction of 30%...
February 2018: Journal of Glaucoma
Yonghong Li, Lori A Anderson, Edward I Ginns, James J Devlin
BACKGROUND: Genetic diagnosis of unexplained global developmental delay and intellectual disability (GDD/ID) often ends the diagnostic odyssey and can lead to changes in clinical management. OBJECTIVE: The objective of this study was to investigate the cost effectiveness of testing scenarios involving several methods used to diagnose GDD/ID: karyotyping, chromosomal microarray analysis (CMA), and targeted next-generation sequencing (NGS). METHODS: We used decision-tree models to estimate the number of genetic diagnoses, the cost from a payers' perspective in the USA, and the incremental cost per additional genetic diagnosis...
February 2018: Molecular Diagnosis & Therapy
Haicheng Zhang, Shuguang Liu, Pierre Regnier, Wenping Yuan
Constraints of temperature on spring plant phenology are closely related to plant growth, vegetation dynamics, and ecosystem carbon cycle. However, the effects of temperature on leaf onset, especially for winter chilling, are still not well understood. Using long-term, widespread in situ phenology observations collected over China for multiple plant species, this study analyzes the quantitative response of leaf onset to temperature, and compares empirical findings with existing theories and modeling approaches, as implemented in 18 phenology algorithms...
December 2, 2017: Global Change Biology
Ghada A Otaify, Michael P Whyte, Gary S Gottesman, William H McAlister, J Eric Gordon, Abby Hollander, Marisa V Andrews, Samir K El-Mofty, Wei-Shen Chen, Deborah V Veis, Marina Stolina, Albert S Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi
Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations...
February 2018: Bone
Carol Y Rao, Grace W Goryoka, Olga L Henao, Kevin R Clarke, Stephanie J Salyer, Joel M Montgomery
The Centers for Disease Control and Prevention has established 10 Global Disease Detection (GDD) Program regional centers around the world that serve as centers of excellence for public health research on emerging and reemerging infectious diseases. The core activities of the GDD Program focus on applied public health research, surveillance, laboratory, public health informatics, and technical capacity building. During 2015-2016, program staff conducted 205 discrete projects on a range of topics, including acute respiratory illnesses, health systems strengthening, infectious diseases at the human-animal interface, and emerging infectious diseases...
November 2017: Emerging Infectious Diseases
Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke, Anna Boccaccio
Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We show here that human TMEM16E, when overexpressed in mammalian cell lines, displayed partial plasma membrane localization and gave rise to phospholipid scrambling (PLS) as well as non-selective ionic currents with slow time-dependent activation at highly depolarized membrane potentials...
November 9, 2017: Cellular and Molecular Life Sciences: CMLS
Atalie C Thompson, Varsha Manjunath, Kelly W Muir
PURPOSE: The purpose of this study was to investigate factors associated with a second exposure of a glaucoma drainage device (GDD) following repair of an initial GDD exposure. MATERIALS AND METHODS: This IRB-approved retrospective cohort study examined the incidence of a second exposure of a GDD following initial repair for exposure. Logistic regression was performed to assess the relationship between demographic and clinical characteristics and a second exposure of the GDD...
December 2017: Journal of Glaucoma
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reinders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P A Stegmann, Erica H Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah-Politi, Tim M Strom, Jill A Rosenfeld, Yaping Yang, Jennifer E Posey, LaDonna Immken, Nelly Oundjian, Katherine L Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda H Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, Han G Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R Lupski, Hans-Jürgen Kreienkamp
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays...
November 2, 2017: American Journal of Human Genetics
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone
INTRODUCTION: Global developmental delay (GDD) affects 1%-3% of the population of children under 5 years of age, making it one of the most common conditions presenting in paediatric clinics; causes are exogenous, genetic (non-metabolic) or genetic (metabolic). Recent advances in biotechnology and genetic testing mean that the investigations available to perform for children under 5 years are increasing and are more sensitive than previously. This change in availability and type of testing necessitates an update in the recommendations for investigating GDD...
November 2017: Archives of Disease in Childhood
Deng-Na Zhu, Ping Li, Jun Wang, Jun-Ying Yuan, Guang-Yu Zhang, Jiang-Fang Liang, Ming-Mei Wang, Yun-Xia Zhao, Shuang An, Na Ma, Dan-Dan Ma
OBJECTIVE: To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD). METHODS: A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Marielle Babineau, Solvejg K Mathiassen, Michael Kristensen, Per Kudsk
Herbicide resistance is an example of plant evolution caused by an increased reliance on herbicides with few sites of action to manage weed populations. This micro-evolutionary process depends on fitness, therefore the assessment of fitness differences between susceptible and resistant populations are pivotal to establish management strategies. Loose silky bentgrass (Apera spica-venti) is a serious weed in Eastern, Northern, and Central Europe with an increasing number of herbicide resistant populations. This study examined the fitness and growth characteristics of an ALS resistant biotype...
2017: Frontiers in Plant Science
Rongting Ji, Ju Min, Yuan Wang, Hu Cheng, Hailin Zhang, Weiming Shi
Efficient and precise yield prediction is critical to optimize cabbage yields and guide fertilizer application. A two-year field experiment was conducted to establish a yield prediction model for cabbage by using the Greenseeker hand-held optical sensor. Two cabbage cultivars (Jianbao and Pingbao) were used and Jianbao cultivar was grown for 2 consecutive seasons but Pingbao was only grown in the second season. Four chemical nitrogen application rates were implemented: 0, 80, 140, and 200 kg·N·ha(-1). Normalized difference vegetation index (NDVI) was collected 20, 50, 70, 80, 90, 100, 110, 120, 130, and 140 days after transplanting (DAT)...
October 8, 2017: Sensors
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