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https://read.qxmd.com/read/30767363/mutations-in-ift80-cause-srps-type-iv-report-of-two-families-and-review
#1
Varoona Bizaoui, Tania Attié-Bitach, Céline Huber, Eva Kohaut, Joelle Roume, Maryse Bonnière, Valérie Cormier-Daire
We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.
February 14, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30744709/a-gill-histopathology-study-in-two-native-fish-species-from-the-hydrographic-douro-basin
#2
Dércia Santos, Ana Luzio, Ana M Coimbra, Simone Varandas, António Fontaínhas-Fernandes, Sandra M Monteiro
Gill histopathology is a valuable tool to evaluate ecosystems health, because the gill is a key site of waterborne pollutant uptake and the first target organ to their toxicity. Consequently, this makes it important in biomonitoring programs. This study aims to evaluate gill histopathological differences in Douro basin native fish species and determine possible associations with water quality and the ecological status classifications. Two native fish species (Pseudochondrostoma duriense and Luciobarbus bocagei) were sampled in four points of the Douro basin: two reference points, Ameixiosa (Paiva River) and Covelas (Bestança River), both classified with an excellent ecological status; and two disturbed points, Castro Daire (Paiva River) and Alvações do Corgo (Corgo River), categorized with a good and a moderate ecological status, respectively...
February 12, 2019: Microscopy and Microanalysis
https://read.qxmd.com/read/30744128/the-benefice-of-mobile-parts-exchange-in-the-management-of-infected-total-joint-arthroplasties-with-prosthesis-retention-dair-procedure
#3
Stefanie Hirsiger, Michael Betz, Dimitrios Stafylakis, Tobias Götschi, Daniel Lew, Ilker Uçkay
Background: The management of prosthetic joint infections (PJI) with debridement and retention of the implant (DAIR) has its rules. Some authors claim that lacking the exchange of mobile prosthetic parts is doomed to failure, while others regard it as optional. Methods: Single-center retrospective cohort in PJIs treated with DAIR. Results: We included 112 PJIs (69 total hip arthroplasties, 9 medullary hip prostheses, 41 total knee arthroplasties, and 1 total shoulder arthroplasty) in 112 patients (median age 75 years, 52 females (46%), 31 (28%) immune-suppressed) and performed a DAIR procedure in all cases-48 (43%) with exchange of mobile parts and 64 without...
February 9, 2019: Journal of Clinical Medicine
https://read.qxmd.com/read/30732980/emergency-department-environmental-contamination-with-methicillin-resistant-staphylococcus-aureus-after-care-of-colonized-patients
#4
Stephen Y Liang, Daire R Jansson, Patrick G Hogan, Tyler W Raclin, Melanie L Sullivan, Carol E Muenks, Satish Munigala, Stacey L House, Stephanie A Fritz
STUDY OBJECTIVE: Methicillin-resistant Staphylococcus aureus (MRSA) transmission dynamics in the emergency department (ED) are not well defined; environmental surfaces may serve as reservoirs for transmission. This study investigates the effect of patients with a history of MRSA colonization or infection on subsequent MRSA contamination of the ED environment. METHODS: Adult ED patients with evidence of an MRSA-positive surveillance result or clinical microbiologic culture in the year preceding their current ED visit were enrolled...
February 4, 2019: Annals of Emergency Medicine
https://read.qxmd.com/read/30691920/characteristics-of-enterobacter-cloacae-prosthetic-joint-infections
#5
A Bouige, C Fourcade, A Bicart-See, M P Félicé, L Gautie, G Krin, J Lourtet-Hascoet, P Marlin, G Giordano, E Bonnet
OBJECTIVES: Enterobacter cloacae prosthetic joint infections (PJI) are rare and poorly documented. PATIENTS AND METHODS: We conducted a retrospective and monocentric study in an orthopedic unit supporting complex bone and joint infections. Between 2012 and 2016 we collected background, clinical, biological, and microbiological data from 20 patients presenting with prosthetic joint infection and positive for E. cloacae, as well as data on their surgical and medical treatment and outcome...
January 25, 2019: Médecine et Maladies Infectieuses
https://read.qxmd.com/read/30625278/aetiology-and-risk-factors-for-mortality-in-an-adult-community-acquired-pneumonia-cohort-in-malawi
#6
Stephen J Aston, Antonia Ho, Hannah Jary, Jacqueline Huwa, Tamara Mitchell, Sarah Ibitoye, Simon Greenwood, Elizabeth Joekes, Arthur Daire, Jane Mallewa, Dean Everett, Mulinda Nyirenda, Brian Faragher, Henry C Mwandumba, Robert S Heyderman, Stephen B Gordon
RATIONALE: In the context of rapid antiretroviral therapy (ART) rollout and an increasing burden of non-communicable diseases, there are few contemporary data describing the aetiology and outcome of community-acquired pneumonia (CAP) in sub-Saharan Africa. OBJECTIVES: To describe the current aetiology of CAP in Malawi and identify risk factors for mortality. METHODS: We conducted a prospective observational study of adults hospitalised with CAP to a teaching hospital in Blantyre, Malawi...
January 9, 2019: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/30622331/duplication-of-10q24-locus-broadening-the-clinical-and-radiological-spectrum
#7
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13)...
January 8, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30601179/comparing-current-us-and-european-guidelines-for-nosocomial-pneumonia
#8
Daire N Kelly, Ignacio Martin-Loeches
PURPOSE OF REVIEW: In the last 2 years, two major guidelines for the management of nosocomial pneumonia have been published: The International European Respiratory Society/European Society of Intensive Care Medicine/European Society of Clinical Microbiology and Infectious Diseases/Asociación Latinoamericana de Toráx guidelines for the management of hospital-acquired pneumonia (HAP) and ventilator-associated pneumonia (VAP) and the American guidelines for management of adults with HAP and VAP; both the guidelines made important clinical recommendations for the management of patients...
December 28, 2018: Current Opinion in Pulmonary Medicine
https://read.qxmd.com/read/30591310/silver-coated-agluna%C3%A2-tumour-prostheses-can-be-a-protective-factor-against-infection-in-high-risk-failure-patients
#9
Michael C Parry, Minna K Laitinen, Jose I Albergo, Czar L Gaston, Jonathan D Stevenson, Robert J Grimer, Lee M Jeys
INTRODUCTION: Endoprostheses in the treatment of extremity sarcomas are associated with late complications including periprosthetic infection. This study analysed the incidence of infection in patients undergoing endoprosthetic replacement (EPR) with a silver-coated prosthesis. MATERIALS AND METHODS: The study comprised a retrospective single centre study of 394 consecutive patients treated with resection and EPR for primary extremity bone tumours. RESULTS: 89 patients at risk for infection were treated with a silver-coated (Agluna®) EPR (22...
December 14, 2018: European Journal of Surgical Oncology
https://read.qxmd.com/read/30552424/holt-oram-syndrome-clinical-and-molecular-description-of-78-patients-with-tbx5-variants
#10
Clémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, Frédéric Frenois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier-Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier-Hanu, Florence Petit
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening. A TBX5 variant has been identified in 78 patients, representing the largest molecular series ever described...
December 14, 2018: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30546374/the-cell-wall-derived-xyloglucan-is-a-new-damp-triggering-plant-immunity-in-vitis-vinifera-and-arabidopsis-thaliana
#11
Justine Claverie, Suzanne Balacey, Christelle Lemaître-Guillier, Daphnée Brulé, Annick Chiltz, Lucie Granet, Elodie Noirot, Xavier Daire, Benoît Darblade, Marie-Claire Héloir, Benoit Poinssot
Damage-associated molecular patterns (DAMPs) are endogenous molecules that can activate the plant innate immunity. DAMPs can derive from the plant cell wall, which is composed of a complex mixture of cellulose, hemicellulose, and pectin polysaccharides. Fragments of pectin, called oligogalacturonides (OG), can be released after wounding or by pathogen-encoded cell wall degrading enzymes (CWDEs) such as polygalacturonases (PGs). OG are known to induce innate immune responses, including the activation of mitogen-activated protein kinases (MAPKs), production of H2 O2 , defense gene activation, and callose deposition...
2018: Frontiers in Plant Science
https://read.qxmd.com/read/30482664/treatment-of-prosthetic-joint-infection-established-patient-relationships-may-impact-medical-decision-making
#12
Sean P Ryan, Tyler J Vovos, Cierra S Hong, Michael A Bergen, Peter M Formby, Michael P Bolognesi, Thorsten M Seyler
BACKGROUND: Choosing the intervention for prosthetic joint infections, whether debridement, antibiotics, and implant retention (DAIR), or explant and antibiotic spacer placement, is multifactorial. One characteristic that may influence this decision is a previously established relationship with the patient. We hypothesized that patients receiving their arthroplasty at an outside institution and presenting with infection would be more likely to undergo removal of their implant without an attempt at DAIR compared to patients who underwent primary arthroplasty at the investigating institution...
October 9, 2018: Journal of Arthroplasty
https://read.qxmd.com/read/30478443/gain-of-function-dnmt3a-mutations-cause-microcephalic-dwarfism-and-hypermethylation-of-polycomb-regulated-regions
#13
Patricia Heyn, Clare V Logan, Adeline Fluteau, Rachel C Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A Marsh, Francesca Taglini, Fiona Kilanowski, David A Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C Allshire, Martin A M Reijns, Andrew Dauber, Duncan Sproul, Andrew P Jackson
DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes the DNA methyltransferase DNMT3A. These mutations cause microcephalic dwarfism, a hypocellular disorder of extreme global growth failure. Substitutions in the PWWP domain abrogate binding to the histone modifications H3K36me2 and H3K36me3, and alter DNA methylation in patient cells. Polycomb-associated DNA methylation valleys, hypomethylated domains encompassing developmental genes, become methylated with concomitant depletion of H3K27me3 and H3K4me3 bivalent marks...
November 26, 2018: Nature Genetics
https://read.qxmd.com/read/30474047/salvage-debridement-antibiotics-and-implant-retention-dair-with-local-injection-of-a-selected-cocktail-of-bacteriophages-is-it-an-option-for-an-elderly-patient-with-relapsing-staphylococcus-aureus-prosthetic-joint-infection
#14
Tristan Ferry, Gilles Leboucher, Cindy Fevre, Yannick Herry, Anne Conrad, Jérôme Josse, Cécile Batailler, Christian Chidiac, Mathieu Medina, S Lustig, Frédéric Laurent
Local injection of a bacteriophages mix during debridement, antibiotics and implant retention ("DAIR") was performed to treat a relapsing Staphylococcus aureus chronic prosthetic joint infection (PJI). This salvage treatment was safe and associated with a clinical success. Scientific evaluation of the potential clinical benefit of bacteriophages as antibiofilm treatment in PJI is now feasible and required.
November 2018: Open Forum Infectious Diseases
https://read.qxmd.com/read/30450712/a-retrospective-study-on-sleep-disordered-breathing-in-morquio-a-syndrome
#15
Giulia Facchina, Alessandro Amaddeo, Geneviève Baujat, Sylvain Breton, Caroline Michot, Briac Thierry, Syril James, Timothé de Saint Denis, Michel Zerah, Sonia Khirani, Valerie Cormier-Daire, Brigitte Fauroux
Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG...
November 18, 2018: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30439444/calcium-activated-nucleotidase-1-cant1-is-critical-for-glycosaminoglycan-biosynthesis-in-cartilage-and-endochondral-ossification
#16
Chiara Paganini, Luca Monti, Rossella Costantini, Roberta Besio, Silvia Lecci, Marco Biggiogera, Kun Tian, Jean-Marc Schwartz, Céline Huber, Valérie Cormier-Daire, Beth G Gibson, Katarzyna A Pirog, Antonella Forlino, Antonio Rossi
Desbuquois dysplasia type 1 (DBQD1) is a chondrodysplasia caused by mutations in CANT1 gene encoding an ER/Golgi calcium activated nucleotidase 1 that hydrolyses UDP. Here, using Cant1 knock-in and knock-out mice recapitulating DBQD1 phenotype, we report that CANT1 plays a crucial role in cartilage proteoglycan synthesis and in endochondral ossification. Specifically, the glycosaminoglycan synthesis was decreased in chondrocytes from Cant1 knock-out mice and their hydrodynamic size was reduced, whilst the sulfation was increased and the overall proteoglycan secretion was delayed...
November 12, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://read.qxmd.com/read/30401558/acceptable-success-rate-in-patients-with-periprosthetic-knee-joint-infection-treated-with-debridement-antibiotics-and-implant-retention
#17
Casper S Ottesen, Anders Troelsen, Håkon Sandholdt, Steffen Jacobsen, Henrik Husted, Kirill Gromov
BACKGROUND: Acute periprosthetic joint infection (PJI) following primary total knee arthroplasty (TKA) surgery can be treated with debridement, antibiotics, and implant retention (DAIR). However, varying results have been reported in the literature and optimal timing of the procedure is still debated. In this retrospective cohort study, we investigate (a) success rate of DAIR for treating PJI following primary TKA surgery and (b) whether time after primary surgery until DAIR and (c) type of isolated microorganism influence outcome...
February 2019: Journal of Arthroplasty
https://read.qxmd.com/read/30319802/crystal-structure-and-synthesis-of-3-1-h-pyrrol-2-yl-1-thio-phen-2-yl-propanone
#18
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
https://read.qxmd.com/read/30303737/impairment-of-chondrogenesis-and-microfibrillar-network-in-adamtsl2-deficiency
#19
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
https://read.qxmd.com/read/30290637/therapeutic-outcome-of-spinal-implant-infections-caused-by-staphylococcus-aureus-a-retrospective-observational-study
#20
MULTICENTER STUDY
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)
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