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https://www.readbyqxmd.com/read/28546996/a-mutation-creating-an-upstream-initiation-codon-in-the-sox9-5-utr-causes-acampomelic-campomelic-dysplasia
#1
Anna E von Bohlen, Johann Böhm, Ramona Pop, Diana S Johnson, John Tolmie, Ralf Stücker, Deborah Morris-Rosendahl, Gerd Scherer
BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the SOX9 protein-coding sequence nor a translocation with breakpoint in the SOX9 regulatory domain...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28541427/percutaneous-cannulation-for-cardiopulmonary-bypass-in-minimally-invasive-surgery-is-associated-with-reduced-groin-complications
#2
Alexandros Moschovas, Paulo A Amorim, Mariana Nold, Gloria Faerber, Mahmoud Diab, Tobias Buenger, Torsten Doenst
OBJECTIVES: Femoral cutdown is standard in most centres if groin cannulation is used for cardiopulmonary bypass in minimally invasive cardiac surgery (MICS). Arterial closure devices (ACDs) allow placement of larger cannulas percutaneously, but its benefit in MICS is unclear. We assessed our results with percutaneous groin cannulation using ACDs in comparison with conventional surgical access in patients undergoing MICS. METHODS: We reviewed 445 consecutive patients having undergone MICS between October 2010 and March 2015...
May 25, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28540007/anterior-chamber-depth-change-following-cataract-surgery-in-pseudoexfoliation-syndrome-a-preliminary-study
#3
Mohammad Reza Fallah Tafti, Hossein Abdollah Beiki, S Farzad Mohammadi, Golshan Latifi, Elham Ashrafi, Zahra Fallah Tafti
PURPOSE: To assess the pseudophakic anterior chamber depth (PP-ACD) or effective lens position (ELP) change after cataract surgery in patients with pseudoexfoliation syndrome (PEX). METHODS: Consecutive eyes with PEX and cataract underwent standard phacoemulsification and were implanted with single-piece acrylic posterior chamber intraocular lenses (IOLs). Eyes with severe PEX and with axial length (AL) greater than 24 mm or less than 22 mm were not included. Eyes with capsular complication or unstable bags that needed capsular tension ring insertion were excluded...
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28539215/comparison-and-validation-of-an-in-vitro-skin-sensitization-strategy-using-a-data-set-of-33-chemical-references
#4
Elodie Clouet, Saadia Kerdine-Römer, Pierre-Jacques Ferret
Allergic contact dermatitis (ACD) is an adverse health effect that develops following repeated exposure to skin sensitizing chemicals. An animal testing ban has been applied in EU, leading to development of reliably predictive non-animal methods. Several in vitro methods have been developed as alternatives but one single non-animal test method is not been sufficient to fully address since the LLNA test ban. Here, we have selected an ITS (Integrated Testing Strategy) for skin sensitization which focuses on three in vitro methods that covered the first three steps of the AOP (DPRA, SENS-IS or h-CLAT)...
May 21, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28528807/comparison-of-amicus-and-cobe-spectra-for-allogenic-peripheral-blood-stem-cell-harvest-study-from-tertiary-care-centre-in-india
#5
Rasika Dhawan Setia, Satyam Arora, Anil Handoo, Tina Dadu, Dharma Choudhary, Sajeev Kumar Sharma, Gaurav Kharya, Vipin Khandelwal, Prerna Sachdeva, Divya Doval, Anamika Bakliwal, Meenu Kapoor, Shalu Bajaj, Virendra Bachchas, Praveen Singh
INTRODUCTION: Most common source of stem cell graft for both autologous and allogenic haematopoietic transplants are peripheral blood haematopoietic progenitor stem cells. Adequate collection of the CD34+ cells and safety of the allogenic donor during the leukapheresis are of prime importance to an apheresis physician. Our retrospective analysis is a comparison between of two platforms namely, COBE Spectra and Amicus, for CD34+ mononuclear cell collection. MATERIAL AND METHOD: The study included the data of GSCF (Granulocyte-Colony-Stimulating Factor) mobilized allogenic PBSC collections at our centre from January 2015 to June 2016...
April 24, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28528378/trabeculotomy-opening-size-and-iop-reduction-after-trabectome%C3%A2-surgery
#6
Thomas Wecker, Alexandra Anton, Matthias Neuburger, Jens F Jordan, Christian van Oterendorp
BACKGROUND: Trabeculotomy with the Trabectome® is an effective surgical procedure to lower intraocular pressure (IOP). However, in some patients it does not lead to a significant IOP reduction despite a gonioscopically well visible opening of Schlemm's canal. This study investigated whether the size of the trabeculotomy opening and other parameters, including anterior chamber depth (ACD) are related to IOP reduction. METHODS: Retrospective observational case series with 93 eyes of 93 patients who underwent Trabectome surgery...
May 20, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28527757/comparative-analysis-of-peri-operative-complications-between-a-multicenter-prospective-cervical-deformity-database-and-the-nationwide-inpatient-sample-database
#7
Peter G Passias, Samantha R Horn, Cyrus M Jalai, Gregory Poorman, Olivia J Bono, Subaraman Ramchandran, Justin S Smith, Justin K Scheer, Daniel M Sciubba, D Kojo Hamilton, Gregory Mundis, Cheongeun Oh, Eric O Klineberg, Virginie Lafage, Christopher I Shaffrey, Christopher P Ames
BACKGROUND CONTEXT: Complication rates for adult cervical deformity are poorly characterized given the complexity and heterogeneity of cases. PURPOSE: To compare peri-operative complication rates following adult cervical deformity corrective surgery between a prospective multi-center database for cervical deformity patients (PCD) and Nationwide Inpatient Sample (NIS). STUDY DESIGN/SETTING: Retrospective review of prospective databases. PATIENT SAMPLE: 11,501 adult cervical deformity patients (11,379 patients from NIS and 122 patients from PCD database)...
May 17, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28523864/allergic-contact-dermatitis-due-to-methylisothiazolinone-in-a-young-girl-s-laundry-detergent
#8
Colleen H Cotton, Cliff G Duah, Catalina Matiz
Methylisothiazolinone (MI) is an emerging and increasing cause of allergic contact dermatitis (ACD) in children. We present the case of a 7-year-old girl with an unusual dermatitis suspicious for contact allergy. Patch testing confirmed allergy to MI, found only in the patient's laundry detergent. This case highlights the importance of checking household product ingredients and the role of MI as an increasing cause of ACD in children.
May 19, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28520882/ocular-determinants-of-refractive-error-and-its-age-and-sex-related-variations-in-the-chinese-american-eye-study
#9
Grace M Richter, Mingwu Wang, Xuejuan Jiang, Shuang Wu, Dandan Wang, Mina Torres, Farzana Choudhury, Rohit Varma
Importance: Uncorrected refractive error (RE) is a leading cause of visual impairment, and variations in ocular anatomy determine RE. The unique ocular determinants of RE in Chinese American individuals have not been studied previously. Objective: To report ocular determinants of RE in a Chinese American population 50 years and older in Monterey Park, California. Design, Setting, and Participants: The Chinese American Eye Study, a population-based, cross-sectional study, was conducted from February 1, 2010, through October 31, 2013, in Monterey Park, with this particular data analysis performed from January 1 through December 31, 2016...
May 18, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28513492/repeatability-and-agreement-of-five-imaging-systems-for-measuring-anterior-segment-parameters-in-healthy-eyes
#10
Mukesh Kumar, Rohit Shetty, Chaitra Jayadev, Harsha L Rao, Debarun Dutta
PURPOSE: The purpose of this study is to assess the repeatability and agreement of five imaging devices, namely, the Pentacam (Oculus), Sirius (CSO), Orbscan IIz (Bausch and Lomb), Corvis (Oculus), and ultrasound pachymetry (UP, Tomey) in measuring steep keratometry (sKm), flat keratometry (fKm), central corneal thickness (CCT), thinnest corneal thickness (TCT), and anterior chamber depth (ACD) in healthy individuals. DESIGN: This was prospective, comparative study...
April 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28513489/the-influence-of-corneal-collagen-cross-linking-on-anterior-chamber-in-keratoconus
#11
Nihat Polat, Abuzer Gunduz, Cemil Colak
AIMS: This study aimed to evaluate the effect of the corneal changes following corneal cross-linking (CXL) on the anterior chamber in keratoconus patients. MATERIALS AND METHODS: Forty-five eyes of 32 patients who had been diagnosed with progressive keratoconus and had undergone CXL were included in this retrospective study. The thinnest corneal thickness of the progressive keratoconus patients included in the study was >400 μ. The preoperative (T0), postoperative 6th month (T1), and postoperative 1st year (T2) anterior chamber volume (ACV), anterior chamber angle (ACA), and anterior chamber depth (ACD) scheimpflug imaging values were obtained for each eye...
April 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28504363/allergic-contact-dermatitis-caused-by-meth-acrylates-in-nail-cosmetic-products-in-users-and-nail-technicians%C3%A2-%C3%A2-a-5-year-study
#12
Inês Raposo, Inês Lobo, Cristina Amaro, Maria de Lurdes Lobo, Helena Melo, Joana Parente, Teresa Pereira, Joana Rocha, Ana P Cunha, Armando Baptista, Pedro Serrano, Teresa Correia, Ana R Travassos, Margarida Dias, Fátima Pereira, Margarida Gonçalo
BACKGROUND: The increasing use of long-lasting nail aesthetic products has led to a growing number of cases of allergic contact dermatitis (ACD) caused by (meth)acrylates in recent years. OBJECTIVES: To provide information on ACD caused by (meth)acrylates related to nail cosmetic products. METHODS: We retrospectively reviewed files of patients with ACD caused by (meth)acrylates related to nail cosmetic products, who were patch tested between January 2011 and December 2015 in 13 departments of dermatology in Portugal...
May 15, 2017: Contact Dermatitis
https://www.readbyqxmd.com/read/28504010/effects-of-selective-serotonin-reuptake-inhibitors-on-intraocular-pressure-and-anterior-segment-parameters-in-open-angle-eyes
#13
Gamze Uçan Gündüz, Neslihan Parmak Yener, Oğuzhan Kılınçel, Cem Gündüz
PURPOSE: To evaluate the short and long term effects of selective serotonin reuptake inhibitors (SSRIs) on intraocular pressure (IOP) and anterior segment parameters in open angle eyes. MATERIALS AND METHODS: This cross-sectional study included 325 eyes of 166 subjects. Subjects were divided into three groups; group 1 included 116 eyes of 58 patients receiving SSRIs for 1 week - 6 months, group 2 included 102 eyes of 53 patients receiving SSRIs for longer than 6 months, and group 3 included 107 eyes of 55 healthy subjects not receiving any drugs...
May 14, 2017: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/28500544/diversity-and-plant-growth-promoting-properties-of-rhizobia-isolated-from-root-nodules-of-ononis-arvensis
#14
Sylwia Wdowiak-Wróbel, Monika Marek-Kozaczuk, Michał Kalita, Magdalena Karaś, Magdalena Wójcik, Wanda Małek
This is the first report describing isolates from root nodules of Ononis arvensis (field restharrow). The aim of this investigation was to describe the diversity, phylogeny, and plant growth promoting features of microsymbionts of O. arvensis, i.e., a legume plant growing in different places of the southern part of Poland. Twenty-nine bacterial isolates were characterized in terms of their phenotypic properties, genome fingerprinting, and comparative analysis of their 16S rRNA, nodC and acdS gene sequences...
May 12, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28493082/electro-acupuncture-at-zusanli-acupoint-st36-suppresses-inflammation-in-allergic-contact-dermatitis-via-triggering-local-il-10-production-and-inhibiting-p38-mapk-activation
#15
Zhigang Wang, Tao Yi, Man Long, Yisen Gao, Chunhao Cao, Chenwei Huang, Qian Wang, Nina Yin, Zebin Chen
Acupuncture has shown beneficial effect in the treatment of multiple dermatologic conditions including dermatitis, pruritus, urticaria, and hyperhidrosis; however, the detailed mechanisms are still kept unclear. This study aimed to investigate if electro-acupuncture (EA) treatment prevents 2,4-dinitrofluorobenzene (DNFB)-induced allergic contact dermatitis (ACD) in rats and explore its underlying mechanisms. ACD was induced by sensitizing and challenging with DNFB topically. Rats were treated daily following bilateral subcutaneous stimulation of EA at Zusanli acupoint (ST36) for 1 week...
May 10, 2017: Inflammation
https://www.readbyqxmd.com/read/28492359/periodontitis-and-endothelial-dysfunction-periodontal-clinical-parameters-and-the-levels-of-salivary-markers-il-1%C3%AE-tnf-%C3%AE-mmp2-timp2-complex-and-nitric-oxide
#16
Marcela Faria Moura, Túlio Pinho Navarro, Tarcília Aparecida Silva, Luís Otávio Miranda Cota, Alcione Maria Soares Dutra Oliveira, Fernando Oliveira Costa
BACKGROUND: Periodontitis has been associated with a greater risk for arteriosclerotic cardiovascular disease (ACD). Endothelial dysfunction (ED) is a parameter of early ACD, and its association with periodontitis has rarely been investigated to date. The objective of this study was to evaluate the association between periodontitis and ED by means of periodontal clinical parameters and salivary markers IL-1β, TNF-α, nitric oxide-(NO) and MMP2/TIMP2 complex. METHODS: Forty-seven individuals were divided into two groups: 24 individuals with chronic periodontitis and 23 individuals without chronic periodontitis...
May 11, 2017: Journal of Periodontology
https://www.readbyqxmd.com/read/28490479/cystic-adventitial-disease-of-the-common-femoral-vein
#17
Emma Howard, Ruth Benson, Christopher Day, Brian Gwynn
We present the case of a 46-year-old commercial pilot with a history of unilateral leg swelling following a flight to Geneva. Although initial clinical examination suggested a deep vein thrombosis, the swelling only partially resolved with anticoagulation and further imaging suggested the presence of adventitial cystic disease (ACD). The patient underwent initial anticoagulation to allow any thrombus to be lysed, followed by excision of the ACD from the venous wall and venous reconstruction. Following the excision of the ACD, providing the patient remains asymptomatic and further imaging finds normal venous anatomy, we hope the patient will discontinue anticoagulation and return to flying...
May 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28486899/a-survey-of-australian-and-new-zealand-anaesthetists-attitudes-towards-resuscitation-orders-in-the-perioperative-setting
#18
Z Keon-Cohen, P S Myles, D A Story
Not for resuscitation (NFR) orders are often suspended during anaesthesia, as perioperative care is believed to inherently involve the need for resuscitation including ventilation support. Recent legislative changes in Australia, New Zealand and the UK have enacted the binding nature of advance care directives (ACDs) in healthcare. National guidelines regarding codes of practice and government strategic plans for implementing advance care planning have reinforced the role for advance care planning in modern healthcare...
May 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28486513/angle-stability-and-outflow-in-dual-blade-ab-interno-trabeculectomy-with-active-versus-passive-chamber-management
#19
Chao Wang, Yalong Dang, Susannah Waxman, Xiaobo Xia, Robert N Weinreb, Nils A Loewen
PURPOSE: To compare intraoperative angle stability and postoperative outflow of two ab interno trabeculectomy devices that excise the trabecular meshwork with or without active aspiration and irrigation. We hypothesized that anterior segment optical coherence tomography (AS-OCT) allows for a quantitative comparison of intraoperative angle stability in a microincisional glaucoma surgery (MIGS) pig eye training model. METHODS: Twelve freshly enucleated porcine eyes were measured with AS-OCT at baseline, at the beginning of the procedure and at its conclusion to determine the anterior chamber depth (ACD) and the nasal angle α in degrees...
2017: PloS One
https://www.readbyqxmd.com/read/28485764/%C3%A3-kad-kunskap-om-familj%C3%A3-rt-melanom-och-de-bakom%C3%A2-liggande-generna
#20
Hildur Helgadottir, Kari Nielsen, Veronica Höiom
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found...
May 9, 2017: Läkartidningen
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