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https://www.readbyqxmd.com/read/30025171/a-chinese-family-with-periodontal-ehlers-danlos-syndrome-associated-with-missense-mutation-in-the-c1r-gene
#1
Juan Wu, Jie Yang, Jie Zhao, Jingrong Wu, Xuan Zhang, W Keung Leung, Weibin Sun
AIM: We report a rare case of periodontal Ehlers-Danlos syndrome (pEDS) associated with severe periodontitis and tooth loss in a Chinese family. MATERIAL AND METHODS: The proband complained of gingival bleeding and mobility, which were also reported in his mother, and maternal uncle and his maternal grandmother and great-grandfather in the past. All family members underwent oral, physical, dermatological, and genetic examinations. RESULTS: Oral manifestation of family members affected with pEDS presented severe periodontitis with multiple or total tooth loss...
July 19, 2018: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/30023429/impact-of-daylight-saving-time-on-the-clinical-laboratory
#2
Alexandra Ehlers, Richard L Dyson, Christina K Hodgson, Scott R Davis, Matthew D Krasowski
Daylight saving time is a practice in some countries and local regions to set clocks forward (typically 1 hour) during the longer days of summer and back again in autumn. Time changes resulting from daylight saving time have the potential to impact clinical laboratory instruments, computer interfaces, and information systems. We analyzed turnaround time data for an academic medical center clinical laboratories (chemistry, hematology, blood gas analyzer, and transfusion medicine), examining how turnaround time was impacted by the daylight saving time shifts in 2017...
January 2018: Academic Pathology
https://www.readbyqxmd.com/read/30023276/arrhythmias-and-myocardial-fragility-in-ehlers-danlos-syndrome-complications-after-routine-icd-placement
#3
Vinisha Garg, Malcolm Bersohn, Janet K Han
No abstract text is available yet for this article.
July 2018: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/30009955/how-soon-will-digital-endpoints-become-a-cornerstone-for-future-drug-development
#4
Philip Boehme, Arne Hansen, Ronenn Roubenoff, Joseph Scheeren, Maximilian Herrmann, Thomas Mondritzki, Jan Ehlers, Hubert Truebel
Digital technologies are transforming healthcare and will provide the basis for more patient-centric innovation in the pharmaceutical industry. Digital endpoints in clinical studies have the potential to drive innovation and reduce costly late-stage failures. This is also currently under consideration by regulatory agencies, such as the US Food and Drug Administration (FDA). The academic-industrial collaboration MOBILISED-D aims to implement and validate real-world walking speed (RWS) as a digital endpoint accepted by regulatory authorities as a first of its class...
July 14, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/30008146/non-sarcomeric-causes-of-heart-failure
#5
EDITORIAL
Katja Gehmlich, Elisabeth Ehler
No abstract text is available yet for this article.
July 14, 2018: Biophysical Reviews
https://www.readbyqxmd.com/read/30007466/association-of-postural-tachycardia-syndrome-and-ehlers-danlos-syndrome-with-mast-cell-activation-disorders
#6
REVIEW
Rafael Bonamichi-Santos, Kelly Yoshimi-Kanamori, Pedro Giavina-Bianchi, Marcelo Vivolo Aun
Mast cell activation disorders (MCADs) consist of episodic systemic symptoms due to mast cell mediator release. Diagnosis is based on clinical presentation and determination of high levels of tryptase or histamine. Ehlers-Danlos syndrome (EDS) and postural tachycardia syndrome (POTS) frequently coexist. It has been described that individuals with these syndromes can even present symptoms compatible to MCADs, which could represent a new specific phenotype. Preliminary genetic data suggest a role for tryptase in the pathogenesis of MCADs, EDS, and POTS association...
August 2018: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/29995277/genetics-of-and-pathogenic-mechanisms-in-arrhythmogenic-right-ventricular-cardiomyopathy
#7
REVIEW
Anita Kiran Vimalanathan, Elisabeth Ehler, Katja Gehmlich
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways...
July 11, 2018: Biophysical Reviews
https://www.readbyqxmd.com/read/29991339/thumb-carpometacarpal-arthritis-in-patients-with-ehlers-danlos-syndrome-non-operative-and-operative-experiences
#8
Mario Hevesi, Arif R Chaudhry, Eric R Wagner, Steven L Moran
Ehlers-Danlos Syndrome is a connective tissue disorder that results in joint and generalized tissue hyperlaxity, predisposing patients to early onset arthritis. An institutional database spanning 1999-2016 was reviewed for all patients with symptomatic carpometacarpal arthritis and coexisting Ehlers-Danlos Syndrome, resulting in 14 thumbs amongst nine patients followed clinically for a median of 5.9 years (range 1-15). Patients managed non-operatively demonstrated stable subjective pain and trended towards decreased range of motion over time, whereas patients managed operatively had significant improvements in pain and trended towards increased grip strength...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29988573/impaired-cell-viability-and-functionality-of-hepatocytes-after-incubation-with-septic-plasma-results-of-a-second-prospective-biosensor-study
#9
Martin Sauer, Cristof Haubner, Georg Richter, Johannes Ehler, Thomas Mencke, Steffen Mitzner, Stefan Margraf, Jens Altrichter, Sandra Doß, Gabriele Nöldge-Schomburg
Liver dysfunction (LD) and liver failure are associated with poor outcome in critically ill patients. In patients with severe sepsis or septic shock, LD occurred in nearly 19% of patients. An early diagnosis of LD at time of initial damage of the liver can lead to a better prognosis of these patients because an early start of therapy is possible. We performed a second prospective study with septic patients to test a new cell-based cytotoxicity device (biosensor) to evaluate clinical relevance for early diagnosis of LD and prognostic capacity...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29988376/nkg2a-expression-is-not-per-se-detrimental-for-the-anti-multiple-myeloma-activity-of-activated-natural-killer-cells-in-an-in-vitro-system-mimicking-the-tumor-microenvironment
#10
Niken M Mahaweni, Femke A I Ehlers, Subhashis Sarkar, Johanna W H Janssen, Marcel G J Tilanus, Gerard M J Bos, Lotte Wieten
Natural killer (NK) cell-based immunotherapy is a promising therapy for cancer patients. Inhibitory killer immunoglobulin-like receptors (KIRs) and NKG2A are required for NK cell licensing, but can also inhibit NK cell effector function. Upon reconstitution in a stem cell transplantation setting or after ex vivo NK expansion with IL-2, NKG2A is expressed on a large percentage of NK cells. Since the functional consequences of NKG2A co-expression for activated NK cells are not well known, we compared NKG2A+ vs NKG2A- NK cell subsets in response to K562 cells, multiple myeloma (MM) cell lines and primary MM cells...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29985890/shoulder-arthrodesis
#11
Joseph M Legato, Megan OʼConnell, David A Fuller
PURPOSE: The purpose of this video is to demonstrate the surgical technique of a shoulder arthrodesis for a patient with multidirectional instability and multiple failed previous surgeries. METHODS: A 25-year-old woman with a long history of left shoulder multidirectional instability in the setting of Ehlers-Danlos syndrome is shown undergoing a shoulder arthrodesis. The video demonstrates intraoperative patient positioning, approach, shoulder osseous and articular preparation, implant placement (narrow 4...
August 2018: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/29984735/histopathological-and-electron-microscopic-study-in-dogs-with-patellar-luxation-and-skin-hyperextensibility
#12
Kazunori Ueda, Tomoyuki Kawai, Haruki Senno, Atsushi Shimizu, Akira Ishiko, Masahiko Nagata
Patellar luxation is abnormal displacement of the patella from the femoral trochlear groove. It is seen primarily in small breed dogs and causes pain and limited mobility of the stifle joint. This study aimed to investigate the relationship among patellar luxation, skin extension, and skin collagen fibril diameter. Nine dogs with patellar luxation and five clinically normal dogs were enrolled in the study. We measured the skin extension and investigated the ultrastructure of the skin and patellofemoral ligament by histopathology and transmission electron microscopy...
July 6, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29982180/arterial-fragility-in-kyphoscoliotic-ehlers-danlos-syndrome
#13
Pierrick Henneton, Anne Legrand, Cecilia Giunta, Michael Frank
Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). The disease is classically responsible for severe hypotonia at birth, progressive kyphoscoliosis, generalised joint hypermobility and scleral fragility. Arterial fragility is an important feature of the disease, but its characterisation remains limited. We report the clinical history of a 41-year-old woman who presented repeated arterial accidents, which occurred in previously normal medium size arteries within a limited time span of 2 years...
July 6, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29980309/the-many-radiological-presentations-of-pulmonary-nodules-in-type-iv-ehlers-danlos-syndrome
#14
Luis Gorospe Sarasúa, Gemma María Muñoz-Molina, Paola Arrieta
No abstract text is available yet for this article.
July 3, 2018: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/29979900/pharmacological-resources-diagnostic-approach-and-coordination-of-care-in-joint-hypermobility-related-disorders
#15
Anwar Baban, Marco Castori
Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH, from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders...
July 6, 2018: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/29978923/template-directed-synthesis-of-an-inverted-spiro-architecture
#16
Jan Herman Van Maarseveen, Martin J Wanner, Luuk Steemers, Michiel T Uiterweerd, Raquel S Klijn, Andreas W Ehlers
The regular bicyclic spiro motif is highly abundant given its synthetic accessibility while the diastereomer-virtually obtained through inversion at the central atom- is almost unknown. We have developed methodology to access the elusive inverted spiro architecture by employing a covalent template-directed approach. Comparison with the regular spiro bicycle analog unequivocally established the diastereomeric relationship, providing insight into the fascinating stereochemical and structural properties.
July 6, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29963613/does-it-matter-who-writes-down-the-feedback-a-comparison-of-teacher-vs-student-completed-clinical-encounter-cards-during-clinical-rotations-in-veterinary-studies
#17
Heinz Hans Florian Buchner, Christoph Burger, Jan P Ehlers
Objective: Despite the fact that feedback (FB) provided by teachers to students is a recognised, effective teaching tool, successful use of feedback during clinical training depends on many factors. In addition to appropriate training and attitude of teachers, sustainable feedback requires an appropriate teaching culture and active commitment on the part of the students to receive, accept and use FB. This study examines the use of two different clinical encounter cards (CECs) during clinical rotation and investigates whether students take a more active part in the feedback process when using these cards...
2018: GMS Journal for Medical Education
https://www.readbyqxmd.com/read/29961947/gastrointestinal-huge-submucosal-hematoma-of-the-stomach-arising-in-a-patient-with-vascular-type-ehlers-danlos-syndrome
#18
M Kato, S Shinzaki, Y Tsujii, Y Hayashi, H Iijima, Y Maegawa, T Yakushijin, T Takehara
No abstract text is available yet for this article.
July 1, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29950777/hypermobile-ehlers-danlos-syndrome-and-rehabilitation-taking-stock-of-evidence-based-medicine-a-systematic-review-of-the-literature
#19
REVIEW
Bruno Corrado, Gianluca Ciardi
[Purpose] The aim of the study was to conduct a systematic review about rehabilitation treatment of hypermobile Ehlers-Danlos syndrome, according to Evidence Based Medicine. [Methods] A systematic search has been conducted in following database: PubMed, PEDro, Cochrane, EDS Base Index, TRIP and CINHAL; no time restrictions were adopted. PICO method was employed to formulate the clinical query. Hypermobile Ehlers-Danlos syndrome and physiotherapy were the main keywords of the research. [Results] 1,869 articles emerged from the primary search...
June 2018: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29946315/-acinetobacter-baumannii-epidemiological-and-beta-lactamase-data-from-two-tertiary-academic-hospitals-in-tshwane-south-africa
#20
Michelle Lowe, Marthie M Ehlers, Farzana Ismail, Gisele Peirano, Piet J Becker, Johann D D Pitout, Marleen M Kock
Acinetobacter baumannii is an opportunistic pathogen that is increasingly responsible for hospital-acquired infections. The increasing prevalence of carbapenem resistant A. baumannii has left clinicians with limited treatment options. Last line antimicrobials (i.e., polymyxins and glycylcyclines) are often used as treatment options. The aim of this study was to determine the prevalence of selected β-lactamase genes from A. baumannii isolates obtained from patients with hospital-acquired infections and to determine the genetic relationship and epidemiological profiles among clinical A...
2018: Frontiers in Microbiology
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