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https://www.readbyqxmd.com/read/29212447/on-the-impact-of-relatedness-on-snp-association-analysis
#1
Arnd Gross, Anke Tönjes, Markus Scholz
BACKGROUND: When testing for SNP (single nucleotide polymorphism) associations in related individuals, observations are not independent. Simple linear regression assuming independent normally distributed residuals results in an increased type I error and the power of the test is also affected in a more complicate manner. Inflation of type I error is often successfully corrected by genomic control. However, this reduces the power of the test when relatedness is of concern. In the present paper, we derive explicit formulae to investigate how heritability and strength of relatedness contribute to variance inflation of the effect estimate of the linear model...
December 6, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29203405/inactivation-of-arn-operon-and-loss-of-aminoarabinose-on-lipopolysaccharide-as-the-cause-of-susceptibility-to-colistin-in-an-atypical-clinical-isolate-of-proteus-vulgaris
#2
Sophie Baron, Zineb Leulmi, Claude Villard, Abiola Olumuyiwa Olaitan, Amar A Telke, Jean-Marc Rolain
Colistin has become a last-line antibiotic for the treatment of multidrug resistant bacterial infections, but resistance to colistin has emerged in recent years. Some bacteria, such as Proteus sp. or Serratia sp., are intrinsically resistant to colistin but the exact mechanism of this resistance is not known. Here, we have identified the molecular support for the intrinsic colistin resistance in Proteus by comparative genomic transcriptomic and proteomic analysis of colistin susceptible (CSUR P1868_S) strain and a colistin resistant (CSUR P1867_R) strain of an atypical Proteus vulgaris...
December 1, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29188420/a-lateral-retinacular-release-during-total-knee-arthroplasty%C3%A2-changes-femorotibial-kinematics-an-in-vitro-study
#3
Arnd Steinbrück, Christian Schröder, Matthias Woiczinski, Alexander Glogaza, Peter E Müller, Volkmar Jansson, Andreas Fottner
INTRODUCTION: Lateral retinacular release (LRR) is a common procedure during total knee arthroplasty (TKA), especially if patellar maltracking is observed intraoperatively. The impact of LRR on patellofemoral kinematics is well-examined, but the influence on femorotibial kinematics requires more elucidation. Therefore, the aim of this study was to evaluate the effects of LRR on femorotibial kinematics in vitro. MATERIALS AND METHODS: A fixed bearing TKA was implanted in six human knee specimens...
November 29, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29187580/computer-aided-recognition-of-facial-attributes-for-fetal-alcohol-spectrum-disorders
#4
Matthew Valentine, Dustin C J Bihm, Lior Wolf, H Eugene Hoyme, Philip A May, David Buckley, Wendy Kalberg, Omar A Abdul-Rahman
OBJECTIVES: To compare the detection of facial attributes by computer-based facial recognition software of 2-D images against standard, manual examination in fetal alcohol spectrum disorders (FASD). METHODS: Participants were gathered from the Fetal Alcohol Syndrome Epidemiology Research database. Standard frontal and oblique photographs of children were obtained during a manual, in-person dysmorphology assessment. Images were submitted for facial analysis conducted by the facial dysmorphology novel analysis technology (an automated system), which assesses ratios of measurements between various facial landmarks to determine the presence of dysmorphic features...
November 29, 2017: Pediatrics
https://www.readbyqxmd.com/read/29187467/diagnostic-performance-of-multiparametric-magnetic-resonance-imaging-and-fusion-targeted-biopsy-to-detect-significant-prostate-cancer
#5
Manuela A Hoffmann, Kasra Taymoorian, Christian Ruf, Arnd Gerhards, Karlheinz Leyendecker, Thomas Stein, Frank M Jakobs, Mathias Schreckenberger
BACKGROUND/AIM: Multiparametric magnetic resonance imaging combined with ultrasound-fusion-targeted biopsy of the prostate intends to increase diagnostic precision, which has to be clarified. PATIENTS AND METHODS: We performed multiparametric magnetic resonance imaging followed by ultrasound-fusion-guided perineal biopsy in 99 male patients with elevated prostate-specific-antigen and previous negative standard biopsy-procedures. RESULTS: In 33/99 patients (33%) no malignancy could be confirmed by histopathology...
December 2017: Anticancer Research
https://www.readbyqxmd.com/read/29184533/correlations-between-motor-symptoms-across-different-motor-tasks-quantified-via-random-forest-feature-classification-in-parkinson-s-disease
#6
Andreas Kuhner, Tobias Schubert, Massimo Cenciarini, Isabella Katharina Wiesmeier, Volker Arnd Coenen, Wolfram Burgard, Cornelius Weiller, Christoph Maurer
Background: Objective assessments of Parkinson's disease (PD) patients' motor state using motion capture techniques are still rarely used in clinical practice, even though they may improve clinical management. One major obstacle relates to the large dimensionality of motor abnormalities in PD. We aimed to extract global motor performance measures covering different everyday motor tasks, as a function of a clinical intervention, i.e., deep brain stimulation (DBS) of the subthalamic nucleus...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29178044/periprosthetic-bone-remodelling-of-short-stem-total-hip-arthroplasty-a-systematic-review
#7
REVIEW
Shuang G Yan, Patrick Weber, Arnd Steinbrück, Xingyi Hua, Volkmar Jansson, Florian Schmidutz
PURPOSE: Short-stem hip arthroplasty (SHA) was designed to preserve bone stock and provide an improved load transfer. To gain more evidence regarding the load transfer, this review analysed the periprosthetic bone remodelling of SHA in comparison to standard hip arthroplasty (THA). METHODS: PubMed and ScienceDirect were screened to extract dual-energy X-ray absorptiometry (DXA) studies evaluating the periprosthetic bone remodelling of SHA and two proven THA designs...
November 27, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/29168010/modulation-of-thalamocortical-oscillations-by-trip8b-an-auxiliary-subunit-for-hcn-channels
#8
Mehrnoush Zobeiri, Rahul Chaudhary, Maia Datunashvili, Robert J Heuermann, Annika Lüttjohann, Venu Narayanan, Sabine Balfanz, Patrick Meuth, Dane M Chetkovich, Hans-Christian Pape, Arnd Baumann, Gilles van Luijtelaar, Thomas Budde
Hyperpolarization-activated cyclic nucleotide-gated cation (HCN) channels have important functions in controlling neuronal excitability and generating rhythmic oscillatory activity. The role of tetratricopeptide repeat-containing Rab8b-interacting protein (TRIP8b) in regulation of hyperpolarization-activated inward current, I h, in the thalamocortical system and its functional relevance for the physiological thalamocortical oscillations were investigated. A significant decrease in I h current density, in both thalamocortical relay (TC) and cortical pyramidal neurons was found in TRIP8b-deficient mice (TRIP8b(-/-))...
November 22, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/29163407/a-therapeutic-antiviral-antibody-inhibits-the-anterograde-directed-neuron-to-cell-spread-of-herpes-simplex-virus-and-protects-against-ocular-disease
#9
Dirk Bauer, Mira Alt, Miriam Dirks, Anna Buch, Christiane S Heilingloh, Ulf Dittmer, Bernd Giebel, André Görgens, Vivien Palapys, Maren Kasper, Anna M Eis-Hübinger, Beate Sodeik, Arnd Heiligenhaus, Michael Roggendorf, Adalbert Krawczyk
Herpes simplex virus (HSV) is a leading cause of blindness and viral encephalitis in the developed world. Upon reactivation from sensory neurons, HSV returns via axonal transport to peripheral tissues where it causes, e.g., severe, potentially blinding ocular diseases. In the present study we investigated whether the HSV-1/2 glycoprotein B-specific antibody mAb 2c or its humanized counterpart mAb hu2c can protect from ocular disease in a mouse model of HSV-1-induced acute retinal necrosis (ARN). In this model the viral spread from the initially infected to the contralateral eye resembles the routes taken in humans upon HSV reactivation...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29124287/medial-stabilized-and-posterior-stabilized-tka-affect-patellofemoral-kinematics-and-retropatellar-pressure-distribution-differently
#10
Alexander Glogaza, Christian Schröder, Matthias Woiczinski, Peter Müller, Volkmar Jansson, Arnd Steinbrück
PURPOSE: Patellofemoral kinematics and retropatellar pressure distribution change after total knee arthroplasty (TKA). It was hypothesized that different TKA designs will show altered retropatellar pressure distribution patterns and different patellofemoral kinematics according to their design characteristics. METHODS: Twelve fresh-frozen knee specimens were tested dynamically in a knee rig. Each specimen was measured native, after TKA with a posterior stabilized design (PS) and after TKA with a medial stabilized design (MS)...
November 9, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/29122245/methods-for-segmentation-of-rheumatoid-arthritis-bone-erosions-in-high-resolution-peripheral-quantitative-computed-tomography-hr-pqct
#11
Camille P Figueiredo, Arnd Kleyer, David Simon, Fabian Stemmler, Isabelle d'Oliveira, Anja Weissenfels, Oleg Museyko, Andreas Friedberger, Axel J Hueber, Judith Haschka, Matthias Englbrecht, Rosa M R Pereira, Juergen Rech, Georg Schett, Klaus Engelke
OBJECTIVE: The comparison between different techniques to quantify the 3-dimensional size of inflammatory bone erosions in rheumatoid arthritis(RA) patients. METHODS: Anti-cyclic citrullinated peptide antibody(ACPA) positive RA patients received high-resolution peripheral quantitative computed tomography (HR-pQCT) scans of the metacarpophalangeal joints (MCP). Erosions were measured by three different segmentation techniques: (1) manual method with calculation by half-ellipsoid formula, (2) semi-automated modified Evaluation Script for Erosions (mESE), and (3) semi-automated Medical Image Analysis Framework (MIAF) software...
September 23, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29120886/comparison-of-alcohol-related-neurodevelopmental-disorders-and-neurodevelopmental-disorders-associated-with-prenatal-alcohol-exposure-diagnostic-criteria
#12
Sean Johnson, Chelsie Leigh Moyer, Marilyn G Klug, Larry Burd
OBJECTIVE: Recently, increased attention has been focused on the diagnosis of the most prevalent category of fetal alcohol spectrum disorders, alcohol-related neurodevelopmental disorders (ARNDs). In 2013, proposed criteria for neurodevelopmental disorders associated with prenatal alcohol exposure (ND-PAE) were included in the appendix of the latest revision of the Diagnostic and Statistical Manual of Mental Disorders. The concordance of the 2 sets of criteria is unknown. This study examines the overlap in diagnostic criteria for ND-PAE and the ARND Behavioral Checklist in children...
November 8, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29084141/peatar1b-characterization-of-a-second-type-1-tyramine-receptor-of-the-american-cockroach-periplaneta-americana
#13
Wolfgang Blenau, Sabine Balfanz, Arnd Baumann
The catecholamines norepinephrine and epinephrine regulate important physiological functions in vertebrates. In insects; these neuroactive substances are functionally replaced by the phenolamines octopamine and tyramine. Phenolamines activate specific guanine nucleotide-binding (G) protein-coupled receptors (GPCRs). Type 1 tyramine receptors are better activated by tyramine than by octopamine. In contrast; type 2 tyramine receptors are almost exclusively activated by tyramine. Functionally; activation of type 1 tyramine receptors leads to a decrease in the intracellular concentration of cAMP ([cAMP]i) whereas type 2 tyramine receptors can mediate Ca(2+) signals or both Ca(2+) signals and effects on [cAMP]i...
October 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29073886/ultra-high-field-swi-of-the-substantia-nigra-at-7t-reliability-and-consistency-of-the-swallow-tail-sign
#14
Manuel A Schmidt, Tobias Engelhorn, Franz Marxreiter, Juergen Winkler, Stefan Lang, Stephan Kloska, Philipp Goelitz, Arnd Doerfler
BACKGROUND: The loss of the swallow-tail sign of the substantia nigra has been proposed for diagnosis of Parkinson's disease. Aim was to evaluate, if the sign occurs consistently in healthy subjects and if it can be reliably detected with high-resolution 7T susceptibility weighted imaging (SWI). METHODS: Thirteen healthy adults received SWI at 7T. 3 neuroradiologists, who were blinded to patients' diagnosis, independently classified subjects regarding the swallow-tail sign to be present or absent...
October 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29041817/supratentorial-lesions-contribute-to-trigeminal-neuralgia-in-multiple-sclerosis
#15
Kilian Fröhlich, Klemens Winder, Ralf A Linker, Tobias Engelhorn, Arnd Dörfler, De-Hyung Lee, Max J Hilz, Stefan Schwab, Frank Seifert
Background It has been proposed that multiple sclerosis lesions afflicting the pontine trigeminal afferents contribute to trigeminal neuralgia in multiple sclerosis. So far, there are no imaging studies that have evaluated interactions between supratentorial lesions and trigeminal neuralgia in multiple sclerosis patients. Methods We conducted a retrospective study and sought multiple sclerosis patients with trigeminal neuralgia and controls in a local database. Multiple sclerosis lesions were manually outlined and transformed into stereotaxic space...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29020495/effect-of-adalimumab-on-peripheral-blood-mononuclear-cells-in-non-infectious-uveitis
#16
Karoline Walscheid, Toni Weinhage, Dirk Foell, Carsten Heinz, Maren Kasper, Arnd Heiligenhaus
PURPOSE: This study analyzed the effect of adalimumab on peripheral blood mononuclear cells (PBMCs) in uveitis. METHODS: PBMCs and serum S100A12 levels from 14 uveitis patients and 28 healthy controls were analyzed. Patient samples were taken before (w0), and 6 (w6) and 12 (w12) weeks after initiation of adalimumab therapy. RESULTS: Monocytes expressing CD124, CD86, CD39, CD115, and MHCII were decreased in patients. Adalimumab induced CD86+ and CD39+ monocytes, and further decreased the frequency of MHCII- and CD124-positive cells...
October 11, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28989281/efficacy-and-tolerability-of-liposomal-polyvinylpyrrolidone-iodine-hydrogel-for-the-localized-treatment-of-chronic-infective-inflammatory-dermatoses-an-uncontrolled-pilot-study
#17
Matthias Augustin, Lisa Goepel, Arnd Jacobi, Bjoern Bosse, Stefan Mueller, Michael Hopp
Infection is common in many chronic, inflammatory skin conditions but is often difficult to treat, in part due to growing bacterial resistance to antibiotics. Liposomal polyvinyl-pyrrolidone (PVP)-iodine hydrogel has a unique mode of action, combining the antiseptic and anti-inflammatory actions of PVP-iodine with the drug delivery and moisturizing properties of liposomes. We investigated the utility of liposomal PVP-iodine to treat infective dermatoses. In this prospective, single-arm (uncontrolled), open-label Phase II pilot study, patients with acne vulgaris (n=30), atopic dermatitis (n=20), impetigo contagiosa (n=10), and rosacea (n=10) received PVP-iodine (3%) hydrogel for ≤4 weeks...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28985573/antibody-based-immunotherapy-of-aciclovir-resistant-ocular-herpes-simplex-virus-infections
#18
Dirk Bauer, Jessica Keller, Mira Alt, Axel Schubert, Ulrich Wilhelm Aufderhorst, Vivien Palapys, Maren Kasper, Christiane Silke Heilingloh, Ulf Dittmer, Björn Laffer, Anna Maria Eis-Hübinger, Georges M Verjans, Arnd Heiligenhaus, Michael Roggendorf, Adalbert Krawczyk
The increasing incidence of aciclovir- (ACV) resistant strains in patients with ocular herpes simplex virus (HSV) infections is a major health problem in industrialized countries. In the present study, the humanized monoclonal antibody (mAb) hu2c targeting the HSV-1/2 glycoprotein B was examined for its efficacy towards ACV-resistant infections of the eye in the mouse model of acute retinal necrosis (ARN). BALB/c mice were infected by microinjection of an ACV-resistant clinical isolate into the anterior eye chamber to induce ARN and systemically treated with mAb hu2c at 24h prior (pre-exposure prophylaxis) or at 24, 40, and 56h after infection (post-exposure immunotherapy)...
December 2017: Virology
https://www.readbyqxmd.com/read/28941224/hard-palate-hyperpigmentation-a-rare-side-effect-of-antimalarials
#19
Karin Manger, Ulrich von Streitberg, Gerhard Seitz, Arnd Kleyer, Bernhard Manger
A 50-year old female Caucasian patient with marked xerostomia, xerophthalmia, relapsing parotid swelling, arthralgias, and fatigue had been treated with chloroquine diphosphate (250 mg/day) for four years, when a painless bluish-grey hyperpigmentation of her hard palate was noticed during one of her rheumatologic follow-up visits (A). To rule out malignancy or infection, a mucosal biopsy was performed and histology showed subepithelial granular pigment depositions among collagen fibres and within macrophages (B)...
September 21, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28923439/peripheral-blood-monocytes-reveal-an-activated-phenotype-in-pediatric-uveitis
#20
Karoline Walscheid, Lisa Neekamp, Arnd Heiligenhaus, Toni Weinhage, Dirk Holzinger, Carsten Heinz, Maren Kasper, Dirk Foell
OBJECTIVE: To characterize peripheral blood monocytes in uveitis associated with juvenile idiopathic arthritis (JIAU). METHODS: Peripheral blood monocytes from children with JIA (either with (n=18) or without uveitis (n=11)), idiopathic anterior uveitis (IAU; n=12) and healthy controls (n=11) were analyzed by flow cytometry. RESULTS: Percentage of CD14+CD86+ monocytes and CD86 expression on single cell level were significantly higher in all patient groups than in controls, whereas no major differences existed between patient groups...
September 15, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
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