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https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#1
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28170450/zirconia-implants-as-an-alternative-to-titanium-a-systematic-review-and-meta-analysis
#2
Basel Elnayef, Aida Lázaro, Fernando Suárez-López Del Amo, Pablo Galindo-Moreno, Hom-Lay Wang, Jordi Gargallo-Albiol, Federico Hernández-Alfaro
PURPOSE: The aim of the present study was to systematically evaluate the marginal bone loss (MBL), success, and survival of zirconia (Zi) implants and compare them with the widely studied titanium (Ti) implants. MATERIALS AND METHODS: An electronic and manual literature search of several databases was performed by two independent reviewers for articles up to July 2015 that reported the use of Zi implants and survival, success, and MBL with at least 12 months' follow-up...
February 7, 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/28160348/phoma-crystallifera-with-phytotoxic-effects-and-pathogenic-potential-against-field-bindweed-convolvulus-arvensis-l-in-iran
#3
Parisa Razaghi, Doustmorad Zafari
AIMS: To identify a potential pathogenic isolate of fungus on Convolvulus arvensis and to determine its phytotoxic activity, which revealed the presence of toxic metabolites responsible for the toxicity against the target weed. METHODS AND RESULTS: A high virulent isolate of the fungus, Phoma crystallifera was isolated from symptomatic field bindweed in the west of Iran and was screened for the production of phytotoxins, which promoted necrosis on the detached leaves and seedlings of field bindweed in the bioassays...
February 4, 2017: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/28133890/characterization-of-new-users-of-cilostazol-in-the-uk-spain-sweden-and-germany
#4
Jordi Castellsague, Susana Perez-Gutthann, Brian Calingaert, Christine Bui, Cristina Varas-Lorenzo, Alejandro Arana, Alexandra Prados-Torres, Beatriz Poblador-Plou, Francisca Gonzalez-Rubio, Maria Giner-Soriano, Albert Roso-Llorach, Marie Linder, Anna Citarella, Oliver Scholle, Tilo Blenk, Edeltraut Garbe
PURPOSE: To describe the characteristics of new users of cilostazol in Europe with the aim to support the evaluation of its benefit/risk as used in regular clinical practice before the implementation of labeling changes recommended by the European Medicines Agency. METHODS: New users of cilostazol were identified in populations enrolled in five European health automated databases in the UK (The Health Improvement Network [THIN]), Spain (EpiChron cohort and Information System for the Improvement of Research in Primary Care [SIDIAP]), Sweden (National Registers), and Germany (German Pharmacoepidemiological Research Database [GePaRD]) between 2002 and 2012...
January 30, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28132159/analysis-of-sentinel-node-positivity-in-primary-cutaneous-melanoma-an-8-year-single-institution-experience
#5
K M Joyce, N M McInerney, R P Piggott, F Martin, D M Jones, A J Hussey, M J Kerin, J L Kelly, P J Regan
BACKGROUND: Sentinel lymph node biopsy (SLNB) is a standard method for determining the pathologic status of the regional lymph nodes. AIMS: The aim of our study was to determine the incidence and clinicopathologic factors predictive of SLN positivity, and to evaluate the prognostic importance of SLNB in patients with cutaneous melanoma. METHODS: We performed a retrospective analysis of a prospectively maintained database of all patients who underwent SLNB for primary melanoma at our institution from 2005 to 2012...
January 28, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28121641/suboptimal-compliance-with-national-comprehensive-cancer-network-melanoma-guidelines-who-is-at-risk
#6
Andrew M Blakely, Danielle S Comissiong, Michael P Vezeridis, Thomas J Miner
BACKGROUND: National Comprehensive Cancer Network (NCCN) melanoma treatment guidelines are based on best available literature. We evaluated NCCN excision margin and sentinel lymph node biopsy (SLNB) guideline adherence to identify patient populations at risk for suboptimal care. METHODS: Retrospective review of prospectively maintained database of all patients who underwent operation for invasive melanoma from January 2005 to 2015. RESULTS: In total, 865 patients underwent operation for 522 thin (60...
January 24, 2017: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28119386/survival-prospects-after-acute-myocardial-infarction-in-the-uk-a-matched-cohort-study-1987-2011
#7
Lisanne A Gitsels, Elena Kulinskaya, Nicholas Steel
OBJECTIVES: Estimate survival after acute myocardial infarction (AMI) in the general population aged 60 and over and the effect of recommended treatments. DESIGN: Cohort study in the UK with routinely collected data between January 1987 and March 2011. SETTING: 310 general practices that contributed to The Health Improvement Network (THIN) database. PARTICIPANTS: 4 cohorts who reached the age of 60, 65, 70, or 75 years between 1987 and 2011 included 16 744, 43 528, 73 728, and 76 392 participants, respectively...
January 24, 2017: BMJ Open
https://www.readbyqxmd.com/read/28108171/patellar-cut-and-composite-thickness-the-influence-on-postoperative-motion-and-complications-in-total-knee-arthroplasty
#8
William G Hamilton, Deborah J Ammeen, Nancy L Parks, Nitin Goyal, Gerard A Engh, C Anderson Engh
BACKGROUND: Little data exist on the influence of patellar thickness on postoperative motion or complications after total knee arthroplasty (TKA). This study addresses the following questions: Is postoperative motion influenced by change in composite patellar thickness? Is change in patellar thickness associated with more complications? And do more complications occur in the knees with a patellar bone remnant (<12 mm) and a native patellar thickness <18 mm? METHODS: In total, 3655 TKAs were performed by 3 surgeons over a 28-year interval...
December 27, 2016: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28077570/ktcnlncdb-a-first-platform-to-investigate-lncrnas-expressed-in-human-keratoconus-and-non-keratoconus-corneas
#9
Michał W Szcześniak, Michal Kabza, Justyna A Karolak, Malgorzata Rydzanicz, Dorota M Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P Szaflik, Marzena Gajecka
Keratoconus (KTCN, OMIM 148300) is a degenerative eye disorder characterized by progressive stromal thinning that leads to a conical shape of the cornea, resulting in optical aberrations and even loss of visual function. The biochemical background of the disease is poorly understood, which motivated us to perform RNA-Seq experiment, aimed at better characterizing the KTCN transcriptome and identification of long non-coding RNAs (lncRNAs) that might be involved in KTCN etiology. The in silico functional studies based on predicted lncRNA:RNA base-pairings led us to recognition of a number of lncRNAs possibly regulating genes with known or plausible links to KTCN...
2017: Database: the Journal of Biological Databases and Curation
https://www.readbyqxmd.com/read/28056391/proton-pump-inhibitors-on-pancreatic-cancer-risk-and-survival
#10
Malcolm D Kearns, Ben Boursi, Yu-Xiao Yang
BACKGROUND: Hypergastrinemia may promote the development and progression of pancreatic cancer. Proton pump inhibitor (PPI) therapy is known to cause hypergastrinemia. We sought to determine the association between PPI therapy and the risk of developing pancreatic cancer as well as survival following pancreatic cancer diagnosis. METHODS: We conducted a nested case-control study and a retrospective cohort study in The Health Improvement Network (THIN), a medical records database representative of the UK population...
February 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28050865/creation-and-characterization-of-normal-myocardial-perfusion-imaging-databases-using-the-iq%C3%A2-spect-system
#11
Koichi Okuda, Kenichi Nakajima, Shinro Matsuo, Chisato Kondo, Masayoshi Sarai, Yoriko Horiguchi, Takahiro Konishi, Masahisa Onoguchi, Takeshi Shimizu, Seigo Kinuya
BACKGROUND: Image acquisition by short-time single-photon emission-computed tomography (SPECT) has been made feasible by IQ·SPECT. The aim of this study was to generate normal databases (NDBs) of thallium-201 ((201)Tl) myocardial perfusion imaging for IQ·SPECT, and characterize myocardial perfusion distribution. METHODS AND RESULTS: We retrospectively enrolled 159 patients with a low likelihood of cardiac diseases from four hospitals in Japan. All patients underwent short-time (201)Tl myocardial perfusion IQ·SPECT with or without attenuation and scatter correction (ACSC) in either supine or prone position...
January 3, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28045900/no-evidence-of-association-between-childhood-urban-environment-and-cortical-thinning-in-psychotic-disorder
#12
Aleida Frissen, Jim van Os, Petra Habets, Ed Gronenschild, Machteld Marcelis
BACKGROUND: The alterations in cortical morphology, such as cortical thinning, observed in psychotic disorder, may be the outcome of interacting genetic and environmental effects. It has been suggested that urban upbringing may represent a proxy environmental effect impacting cortical thickness (CT). Therefore, the current study examined whether the association between group as a proxy genetic variable (patients with psychotic disorder [high genetic risk], healthy siblings of patients [intermediate risk] and healthy control subjects [average risk]) and CT was conditional on different levels of the childhood urban environment and whether this was sex-dependent...
2017: PloS One
https://www.readbyqxmd.com/read/28045293/correction-to-schepers-and-bouton-2015
#13
Scott T Schepers, Mark E Bouton
Reports an error in "Effects of reinforcer distribution during response elimination on resurgence of an instrumental behavior" by Scott T. Schepers and Mark E. Bouton (Journal of Experimental Psychology: Animal Learning and Cognition, 2015[Apr], Vol 41[2], 179-192). The mean R2 responding during the resurgence test in the alternating group in the lower right panel of Figure 4 was incorrect. A corrected figure is given in the correction. (The following abstract of the original article appeared in record 2015-12206-001...
January 2017: Journal of Experimental Psychology. Animal Learning and Cognition
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#14
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27989412/a-retrospective-analysis-of-the-utility-of-head-computed-tomography-and-or-magnetic-resonance-imaging-in-the-management-of-benign-macrocrania
#15
M Edward Haws, Luke Linscott, Cameron Thomas, Emily Orscheln, Rupa Radhakrishnan, Beth Kline-Fath
OBJECTIVE: To assess whether computed tomography (CT), magnetic resonance imaging (MRI), and neurosurgical evaluations altered the diagnosis or management of children diagnosed with benign macrocrania of infancy by ultrasonography (US). STUDY DESIGN: We queried our radiology database to identify patients diagnosed with benign macrocrania of infancy by US between 2006 and 2013. Medical records of those with follow-up CT/MRI were reviewed to determine clinical/neurologic status and whether or not CT/MRI imaging resulted in diagnosis of communicating hydrocephalus or required neurosurgical intervention...
December 15, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27965634/structural-elucidation-and-molecular-docking-of-a-novel-antibiotic-compound-from-cyanobacterium-nostoc-sp-mgl001
#16
Niveshika, Ekta Verma, Arun K Mishra, Angad K Singh, Vinay K Singh
Cyanobacteria are rich source of array of bioactive compounds. The present study reports a novel antibacterial bioactive compound purified from cyanobacterium Nostoc sp. MGL001 using various chromatographic techniques viz. thin layer chromatography (TLC) and high performance liquid chromatography (HPLC). Further characterization was done using electrospray ionization mass spectroscopy (ESIMS) and nuclear magnetic resonance (NMR) and predicted structure of bioactive compound was 9-Ethyliminomethyl-12-(morpholin - 4 - ylmethoxy) -5, 8, 13, 16-tetraaza-hexacene - 2, 3 dicarboxylic acid (EMTAHDCA)...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27942262/association-between-obstructive-sleep-apnea-and-osteoporosis-a-systematic-review-and-meta-analysis
#17
REVIEW
Sikarin Upala, Anawin Sanguankeo, Soontharee Congrete
CONTEXT: Hypoxia reduces osteoblast growth resulting in bone thinning and osteoporosis. Although obstructive sleep apnea (OSA) with recurrent hypoxia might be a contributing factor for osteoporosis development, whether OSA is a risk or protective factor for osteoporosis has not been demonstrated. OBJECTIVES: This systematic review and meta-analysis evaluated the association between OSA and osteoporosis using published observational studies. DATA SOURCES: PubMed/MEDLINE and EMBASE databases...
July 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27925100/strategies-for-thirst-relief-integrative-literature-review
#18
Aline Korki Arrabal Garcia, Lígia Fahl Fonseca, Patricia Aroni, Cristina Maria Galvão
Objective: to analyze the strategies used to relieve the thirst of hospitalized patients. Method: an integrative review, for which the databases PubMed, LILACS, CINAHL and the group of references organized by the Group for Study and Research of Thirst were selected for the search of primary studies, with the keywords: thirst, ice, cold, intervention, nursing care, artificial saliva. Results: the review sample was composed of ten primary studies...
November 2016: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/27904953/endometrial-preparation-with-dienogest-before-hysteroscopic-surgery-a-systematic-review
#19
Antonio Simone Laganà, Salvatore Giovanni Vitale, Vincenzo Muscia, Paola Rossetti, Massimo Buscema, Onofrio Triolo, Agnese Maria Chiara Rapisarda, Loretta Giunta, Vittorio Palmara, Roberta Granese, Helena Ban Frangež, Andrea Romano
PURPOSE: Hysteroscopic surgery is considered the gold standard for the minimal invasive treatment of many endouterine diseases such as endometrial polyps or submucous myomas. Recently, many studies have evaluated the effect of preoperative administration of a number of drugs to reduce endometrial thickness and achieve important intraoperative advantages. The purpose of this systematic review is to summarize the available evidence about the use of Dienogest, an orally administrable progestin, for endometrial preparation before hysteroscopic surgery...
November 30, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27893220/is-body-dissatisfaction-changing-across-time-a-cross-temporal-meta-analysis
#20
Bryan T Karazsia, Sarah K Murnen, Tracy L Tylka
It remains unclear whether body dissatisfaction, a widely recognized predictor of eating-related pathologies and depressive symptomatology, is consistent across cohorts and time. This question is important to investigate because dominant theories propose that sociocultural influences, which may fluctuate, play an important role in the development of body dissatisfaction. Previous efforts for tracking body dissatisfaction across cohorts and time are limited by relying on data from a single institution or using assessments that lack psychometric support across genders...
November 28, 2016: Psychological Bulletin
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