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https://www.readbyqxmd.com/read/30112681/procedure-for-single-stage-implant-retention-for-chronic-periprosthetic-infection-using-topical-degradable-calcium-based-antibiotics
#1
Yves Gramlich, Gerhard Walter, Alexander Klug, Johannes Harbering, Matthias Kemmerer, Reinhard Hoffmann
INTRODUCTION: Surgical treatment using DAIR (debridement, systemic antibiotics, and implant retention) can lead to high rates of treatment success in cases of early periprosthetic joint infection (PJI) but can fail in late-onset cases. Supplementary local antibiotic therapy is not yet generally established and lacks evidence-based proof of efficacy. The aim of this study was to analyze DAIR outcomes in recurrent PJI cases and patients who are not suitable for a two-stage exchange, using additional degradable calcium-based antibiotics...
August 15, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/30092305/clinical-outcome-and-risk-factors-for-failure-in-late-acute-prosthetic-joint-infections-treated-with-debridement-and-implant-retention
#2
Marjan Wouthuyzen-Bakker, Marine Sebillotte, Jose Lomas, Adrian Taylor, Eva Benavent Palomares, Oscar Murillo, Javad Parvizi, Noam Shohat, Javier Cobo Reinoso, Rosa Escudero Sánchez, Marta Fernandez-Sampedro, Eric Senneville, Kaisa Huotari, José Maria Barbero Allende, Joaquín Garcia-Cañete, Jaime Lora-Tamayo, Matteo Carlo Ferrari, Danguole Vaznaisiene, Erlangga Yusuf, Craig Aboltins, Rihard Trebse, Mauro José Salles, Natividad Benito, Andrea Vila, Maria Dolores Del Toro, Tobias Siegfried Kramer, Sabine Petersdorf, Vicens Diaz-Brito, Zeliha Kocak Tufan, Marisa Sanchez, Cédric Arvieux, Alex Soriano
OBJECTIVES: Debridement, antibiotics and implant retention (DAIR) is the recommended treatment for all acute prosthetic joint infections (PJI), but its efficacy in patients with late acute (LA) PJI is not well described. METHODS: Patients diagnosed with LA PJI between 2005 and 2015 were retrospectively evaluated. LA PJI was defined as the development of acute symptoms (≤ 3 weeks) occurring ≥ 3 months after arthroplasty. Failure was defined as: i) the need for implant removal, ii) infection related death, iii) the need for suppressive antibiotic therapy and/or iv) relapse or reinfection during follow-up...
August 6, 2018: Journal of Infection
https://www.readbyqxmd.com/read/30083889/should-we-expand-the-indications-for-the-dair-debridement-antibiotic-therapy-and-implant-retention-procedure-for-staphylococcus-aureus-prosthetic-joint-infections-a-multicenter-retrospective-study
#3
O Lesens, T Ferry, E Forestier, E Botelho-Nevers, P Pavese, E Piet, B Pereira, E Montbarbon, B Boyer, S Lustig, S Descamps
To evaluate factors associated with failure in patients treated with DAIR (debridement, antibiotic therapy, and implant retention) for Staphylococcus aureus prosthetic joint infections (PJIs). We retrospectively analyzed consecutive patients with stable PJI due to S. aureus treated with DAIR at six hospitals between 2010 and 2014. Cox proportional hazards regression was used to study factors associated with treatment failure at 2 years. Of 154 eligible patients, 137 were included (mean age 73 ± 13 years; male 56%)...
August 7, 2018: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/30082715/slc10a7-mutations-cause-a-skeletal-dysplasia-with-amelogenesis-imperfecta-mediated-by-gag-biosynthesis-defects
#4
Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M van Eerde, Koen L van Gassen, Corstiaan C Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire
Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane...
August 6, 2018: Nature Communications
https://www.readbyqxmd.com/read/30079439/oral-hairy-leukoplakia-in-healthy-immunocompetent-patients-a-small-case-series
#5
Daire Shanahan, Rachel Cowie, Helen Rogers, Konrad Staines
BACKGROUND: Oral hairy leukoplakia (OHL) is caused by the Epstein-Barr virus (EBV) and usually presents in patients with human immunodeficiency virus (HIV) infection and systemic immunosuppression. It is rarely seen in patients who are immunocompetent. It is clinically characterised as an asymptomatic, soft, white and corrugated lesion that cannot be scraped from the surface it adheres to. METHODS: Immunocompetent patients with OHL attending Bristol Dental Hospital within the last 6 months were identified...
August 6, 2018: Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/30013892/prosthesis-retention-after-an-infected-hip-prosthesis-hip-fractures-versus-primary-total-hip-prosthesis-data-from-1998-2015
#6
Lieke M A de Vries, William C Neve, Jeroen Steens
Background : A prosthetic joint infection (PJI) is a serious complication and specifically a burden for patients after hip fracture surgery, as they are mostly frail elderly patients with multiple comorbidities. Since treatment protocols are lacking there is a need to evaluate current practice. Aim: To evaluate the difference in prosthesis retention after an infected primary total hip replacement (THR) compared to PJI after hip prosthesis surgery performed for a hip fracture. Methods: We retrospectively collected data of patients who developed PJI after primary THR or after hip fracture surgery (THR or hemiarthroplasty) in the Westfriesgasthuis Hospital between 1998 and 2015...
2018: Journal of Bone and Joint Infection
https://www.readbyqxmd.com/read/30008565/political-priority-for-abortion-law-reform-in-malawi-transnational-and-national-influences
#7
Judith Daire, Maren O Kloster, Katerini T Storeng
In July 2015, Malawi's Special Law Commission on the Review of the Law on Abortion released a draft Termination of Pregnancy bill. If approved by Parliament, it will liberalize Malawi's strict abortion law, expanding the grounds for safe abortion and representing an important step toward safer abortion in Malawi. Drawing on prospective policy analysis (2013-2017), we identify factors that helped generate political will to address unsafe abortion. Notably, we show that transnational influences and domestic advocacy converged to make unsafe abortion a political issue in Malawi and to make abortion law reform a possibility...
June 2018: Health and Human Rights
https://www.readbyqxmd.com/read/30006632/expanding-the-phenotypic-spectrum-of-variants-in-pde4d-prkar1a-from-acrodysostosis-to-acroscyphodysplasia
#8
Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert-Dussardier, Alice Goldenberg, Alex Henderson, Bertrand Isidor, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Pelin Ozlem Simsek-Kiper, Chloé Quelin, Ravi Savarirayan, Marleen Simon, Miranda Splitt, Judith M A Verhagen, Alain Verloes, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire
Acrodysostosis (MIM 101800) is a dominantly inherited condition associating (1) skeletal features (short stature, facial dysostosis, and brachydactyly with cone-shaped epiphyses), (2) resistance to hormones and (3) possible intellectual disability. Acroscyphodysplasia (MIM 250215) is characterized by growth retardation, brachydactyly, and knee epiphyses embedded in cup-shaped metaphyses. We and others have identified PDE4D or PRKAR1A variants in acrodysostosis; PDE4D variants have been reported in three cases of acroscyphodysplasia...
July 13, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29995837/diagnosis-and-management-of-cornelia-de-lange-syndrome-first-international-consensus-statement
#9
REVIEW
Antonie D Kline, Joanna F Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A Deardorff, Peter M Gillett, Stacey L Ishman, Lynne M Kerr, Alex V Levin, Paul A Mulder, Feliciano J Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Antonella Costantino, Valerie Cormier-Daire, David FitzPatrick, Marco Grados, Laura Groves, Whitney Guthrie, Sylvia Huisman, Frank J Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P McCleery, Leonie A Menke, Amy Metrena, Julia O'Connor, Chris Oliver, Juan Pie, Sigrid Piening, Carol J Potter, Ana L Quaglio, Egbert Redeker, David Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D C Van Balkom, Raoul C Hennekam
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide...
July 11, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29950850/successful-treatment-for-acute-prosthetic-joint-infection-due-to-mrsa-and-candida-albicans-a-case-report-and-literature-review
#10
Yong Xiang, Yi-Yi Xuan, Guangheng Li
Methicillin-resistant Staphylococcus aureus (MRSA) and Candidal prosthetic joint infections (PJIs) are very rare, and the optimal management for these patients is still unknown. A 54-year-old man with traumatic arthritis due to previous electric injury successfully retained the implant despite the successive infection with MRSA and Candida albicans after total knee arthroplasty (TKA). Continuous lavage with vancomycin was used to control MRSA infection and repeated local washout plus oral swallow with voriconazole tablet were administered to eradicate C...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29944871/identification-of-the-extracellular-matrix-protein-fibulin-2-as-a-regulator-of-spinal-nerve-organization
#11
Julia Schaeffer, David Tannahill, Jean-Michel Cioni, Dáire Rowlands, Roger Keynes
During amniote peripheral nervous system development, segmentation ensures the correct patterning of the spinal nerves relative to the vertebral column. Along the antero-posterior (rostro-caudal) axis, each somite-derived posterior half-sclerotome expresses repellent molecules to restrict axon growth and neural crest migration to the permissive anterior half-segment. To identify novel regulators of spinal nerve patterning, we investigated the differential gene expression of anterior and posterior half-sclerotomes in the chick embryo by RNA-sequencing...
June 23, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29900417/the-tatton-brown-rahman-syndrome-a-clinical-study-of-55-individuals-with-de-novo-constitutive-dnmt3a-variants
#12
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29899452/targeted-therapy-in-patients-with-pik3ca-related-overgrowth-syndrome
#13
Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction...
June 2018: Nature
https://www.readbyqxmd.com/read/29879364/patterns-of-dental-agenesis-highlight-the-nature-of-the-causative-mutated-genes
#14
B P Fournier, M H Bruneau, S Toupenay, S Kerner, A Berdal, V Cormier-Daire, S Hadj-Rabia, A E Coudert, M de La Dure-Molla
The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes. The aim of this review was to analyze the dental phenotypes of syndromic and nonsyndromic dental agenesis linked to gene mutations...
June 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29869769/indications-and-guidelines-for-debridement-and-implant-retention-for-periprosthetic-hip-and-knee-infection
#15
REVIEW
Douglas A Zaruta, Bowen Qiu, Andrew Y Liu, Benjamin F Ricciardi
PURPOSE OF REVIEW: Prosthetic joint infection is one the most common causes of revision surgery after hip or knee replacement. Debridement and implant retention (DAIR) is one method of treating these infections; however, significant controversy exists. The purpose of our review was to describe current knowledge about indications, intraoperative/postoperative patient management, and outcomes of DAIR. RECENT FINDINGS: Patient selection affects the success of DAIR...
June 5, 2018: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/29754091/multiple-stressor-effects-of-sediment-phosphorus-and-nitrogen-on-stream-macroinvertebrate-communities
#16
Stephen J Davis, Daire Ó hUallacháin, Per-Erik Mellander, Ann-Marie Kelly, Christoph D Matthaei, Jeremy J Piggott, Mary Kelly-Quinn
Multiple stressors affect stream ecosystems worldwide and their interactions are of particular concern, with gaps existing in understanding stressor impacts on stream communities. Addressing these knowledge gaps will aid in targeting and designing of appropriate mitigation measures. In this study, the agricultural stressors fine sediment (ambient, low, medium, high), phosphorus (ambient, enriched) and nitrogen (ambient, enriched) were manipulated simultaneously in 64 streamside mesocosms to determine their individual and combined effects on the macroinvertebrate community (benthos and drift)...
October 1, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29691168/predicting-failure-in-early-acute-prosthetic-joint-infection-treated-with-debridement-antibiotics-and-implant-retention-external-validation-of-the-klic-score
#17
Claudia A M Löwik, Paul C Jutte, Eduard Tornero, Joris J W Ploegmakers, Bas A S Knobben, Astrid J de Vries, Wierd P Zijlstra, Baukje Dijkstra, Alex Soriano, Marjan Wouthuyzen-Bakker
BACKGROUND: Debridement, antibiotics, and implant retention (DAIR) is a widely used treatment modality for early acute prosthetic joint infection (PJI). A preoperative risk score was previously designed for predicting DAIR failure, consisting of chronic renal failure (K), liver cirrhosis (L), index surgery (I), cemented prosthesis (C), and C-reactive protein >115 mg/L (KLIC). The aim of this study was to validate the KLIC score in an external cohort. METHODS: We retrospectively evaluated patients with early acute PJI treated with DAIR between 2006 and 2016 in 3 Dutch hospitals...
August 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29681083/novel-de-novo-zbtb20-mutations-in-three-cases-with-primrose-syndrome-and-constant-corpus-callosum-anomalies
#18
Caroline Alby, Lucile Boutaud, Bettina Bessières, Valérie Serre, Marlene Rio, Valerie Cormier-Daire, Judith de Oliveira, Amale Ichkou, Linda Mouthon, Christopher T Gordon, Maryse Bonnière, Charlotte Mechler, Patrick Nitschke, Christine Bole, Stanislas Lyonnet, Nadia Bahi-Buisson, Nathalie Boddaert, Laurence Colleaux, Philippe Roth, Yves Ville, Michel Vekemans, Féréchté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29627258/does-prior-failed-debridement-compromise-the-outcome-of-subsequent-two-stage-revision-done-for-periprosthetic-joint-infection-following-total-knee-arthroplasty
#19
Ashok Rajgopal, Inayat Panda, Arun Rao, Vivek Dahiya, Himanshu Gupta
BACKGROUND: There has been a debate regarding the outcomes of 2-stage revision total knee arthroplasty (TKA) when debridement, antibiotics, irrigation, and implant retention (DAIR) had been carried out previously. The purpose of this study is to evaluate the influence of prior failed DAIR (F-DAIR) on the outcomes of 2-stage revision TKA done for periprosthetic joint infection (PJI). METHODS: This is a retrospective study of a consecutive series of 184 knees that completed 2-stage revision TKA for PJI, operated by a single surgeon between January 2000 and July 2011...
August 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#20
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
June 2018: Journal of Medical Genetics
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