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Dáire Gibbons, Ganapathi Emandi, Mathias O Senge
The title compound, C11 H9 NOS, was obtained in an improved yield compared to previous literature methods. The mol-ecule is essentially planar with a maximum deviation of 0.085 Å from the mean plane through all non-H atoms. There is directive inter-molecular hydrogen bonding in the form of N-H⋯O hydrogen bonds with a distance of 2.889 (3) Å between the pyrrole amine and the ketone carbonyl O atom. The resulting hydrogen-bonding network defines a ribbon parallel to the a axis. These ribbons form offset stacks along the b axis...
October 1, 2018: Acta Crystallographica. Section E, Crystallographic Communications
Laure Delhon, Clémentine Mahaut, Nicolas Goudin, Emilie Gaudas, Kevin Piquand, Wilfried Le Goff, Valérie Cormier-Daire, Carine Le Goff
Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities. However, the exact function of ADAMTSL2 is unknown. To elucidate the role of this protein in skeletal development, we generated complementary knockout (KO) mouse models with either total or chondrocyte Adamtsl2 deficiency. We observed that the Adamtsl2 KO mice displayed skeletal abnormalities reminiscent of the human phenotype...
October 10, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Oh-Hyun Cho, In-Gyu Bae, Song Mi Moon, Seong Yeon Park, Yee Gyung Kwak, Baek-Nam Kim, Shi Nae Yu, Min Hyok Jeon, Tark Kim, Eun Ju Choo, Eun Jung Lee, Tae Hyong Kim, Seong-Ho Choi, Jin-Won Chung, Kyung-Chung Kang, Jung Hee Lee, Yu-Mi Lee, Mi Suk Lee, Ki-Ho Park
Spinal implant infection is a rare but significant complication of spinal fusion surgery, and the most common pathogen is Staphylococcus aureus. It is difficult to treat due to this pathogen's biofilm-forming ability and antibiotic resistance. We evaluated the therapeutic outcome of treatments for S aureus spinal implant infections. We retrospectively reviewed all patients with S aureus spinal implant infections at 11 tertiary-care hospitals over a 9-year period. Parameters predictive of treatment failure and recurrence were analyzed by Cox regression...
October 2018: Medicine (Baltimore)
Pablo A Slullitel, José I Oñativia, Martin A Buttaro, Marisa L Sánchez, Fernando Comba, Gerardo Zanotti, Francisco Piccaluga
Acute peri-prosthetic joint infection (PJI) following total hip arthroplasty (THA) is a potentially devastating and undesired complication, with a prevalence of 0.3% to 2.9%. Its suspicion begins with a meticulous physical examination and anamnesis. Diagnosis should be made on the basis of the Musculoskeletal Infection Society criteria. Serum and synovial biomarkers are very useful tools when major criteria are absent.Although sometimes not possible due to medical conditions, surgery is usually the first line of treatment...
July 2018: EFORT Open Reviews
Naomi J Wheeler, Andrew P Daire, Sejal M Barden, Ryan G Carlson
Adverse childhood experiences (ACE) are interpersonal sources of distress negatively correlated with physical and mental health, as well as maladaptive intimate partner conflict strategies in adulthood. Economically vulnerable racial and ethnic minorities report the greatest disparities in exposure to ACE, as well as relationship distress and health. Yet, little is known about the connections between ACE, relationship distress, and health. We therefore tested a theoretical model for the mediating role of relationship distress to explain the ACE-health connection with a sample (N = 96) predominantly racial/ethnic minorities (87%) with low income...
September 19, 2018: Family Process
Marjan Wouthuyzen-Bakker, Claudia A M Löwik, Bas A S Knobben, Wierd P Zijlstra, Joris J W Ploegmakers, Glen Mithoe, Aziz Al Moujahid, Greetje A Kampinga, Paul C Jutte
Objectives: Early acute periprosthetic joint infections (PJIs) treated with debridement, antibiotics and implant retention (DAIR) have failure rates ranging from 10% to 60%. We determined the efficacy of applying local gentamicin-impregnated beads and/or sponges during debridement in early PJI. Methods: Patients with early acute PJI, defined as less than 21 days of symptoms and treated with DAIR within 90 days after index surgery, were retrospectively evaluated...
September 5, 2018: Journal of Antimicrobial Chemotherapy
Sean Dx Duffy, Nathanael Ahearn, Elizabeth Sr Darley, Andrew J Porteous, James R Murray, Nicholas R Howells
Background: Debridement, antibiotics and implant retention (DAIR) forms the primary treatment modality for early prosthetic joint infection (PJI). The KLIC score has been proposed as a risk stratification tool for use in predicting outcome of prosthetic knee infections. Our aim was to determine the accuracy of this scoring system at an independent tertiary PJI centre in a typical DAIR population. Methods: Between 2008 and 2015, patients with infected knee prostheses treated with DAIR were identified. The patient notes and blood tests were reviewed retrospectively and the 'KLIC-score' was calculated and correlated with outcome...
2018: Journal of Bone and Joint Infection
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
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 7, 2018: Journal of Infection
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%)...
October 2018: European Journal of Clinical Microbiology & Infectious Diseases
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
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...
September 2018: Oral and Maxillofacial Surgery
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
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
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...
November 2018: European Journal of Human Genetics: EJHG
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
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
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...
October 1, 2018: Developmental Biology
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
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
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