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Search Results: 1 - 10 of 591 matches for " Eugen Gramer "
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Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Simone Dressler,Philipp Meyer-Marcotty,Nicole Weisschuh,Anahita Jablonski-Momeni,Klaus Pieper,Gwendolyn Gramer,Eugen Gramer
Case Reports in Medicine , 2010, DOI: 10.1155/2010/621984
Abstract: Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1  :  200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation pedigree was ascertained through a family with ARS. Clinically, radiographic and genetic analyses were performed. Despite an identical genotype in all patients, the phenotype varies in expressivity of craniofacial and dental morphology. Screening for PITX2 and FOXC1 mutations by direct DNA-sequencing revealed a P64L missense mutation in PITX2 in all family members, supporting earlier reports that PITX2 is an essential factor in morphogenesis of teeth and craniofacial skeleton. Despite the fact that the family members had identical mutations, morphologic differences were evident. The concomitant occurrence of rare dental and craniofacial anomalies may be early diagnostic indications of ARS. Early detection of ARS and elevated intraocular pressure (IOP) helps to prevent visual field loss.
Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Bernd Wissinger, Nicole Weisschuh
BMC Genetics , 2010, DOI: 10.1186/1471-2156-11-8
Abstract: Mitochondrial haplogroup U was significantly under-represented in patients with exfoliation glaucoma (8.3% compared with 18.9% in controls; p = 0.004).People with haplogroup U have a lower risk to develop exfoliation glaucoma. Our results substantiate the suggestion that mitochondrial alterations have an impact on the etiology of glaucoma.Glaucoma is among the leading causes of blindness in elderly people of western European ancestry [1]. In the last ten years a few genes and a number of unsolved gene loci for open angle glaucoma have been identified based on the analyses of mendelian forms of glaucoma. These however only comprise a small fraction of the total glaucoma patient population. None of these genes or loci has been shown to have a relevant impact on the glaucoma population as a whole. The strong hereditary component in glaucoma most likely results from multigenic inheritance involving multiple susceptibility genes [2].Diverse pathophysiological mechanisms are discussed to be involved in glaucoma including vascular dysregulation, excitotoxicity, autoimmunity and oxidative stress [3-6]. The latter is relevant to neuronal damage in the glaucomatous retina and optic nerve head since it triggers mitochondrial dysfunction and leads to retinal ganglion cell (RGC) death in a cell culture model [7]. The pathogenic role of reactive oxygen species in glaucoma is supported by various experimental findings, such as an increase of the oxidative stress markers superoxide dismutase, catalase, and glutathione peroxidase in the aqueous humor of patients with primary open angle glaucoma and exfoliation glaucoma [8,9]. A significant correlation between oxidative DNA damage in the trabecular meshwork and intraocular pressure (IOP) increase and visual field defects was observed in glaucomatous patients [10]. In an independent study, a significant reduction of mitochondrial respiratory function in peripheral blood cells was observed in glaucoma patients when compared to age-matc
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Eva Reinthal, Bernd Wissinger, Nicole Weisschuh
BMC Medical Genetics , 2009, DOI: 10.1186/1471-2350-10-91
Abstract: Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1). These SNPs were genotyped in 285 cases and 282 fully evaluated matched controls. Statistical analyses comprised single polymorphism association as well as haplogroup based association testing.Results suggested that genetic variation in five of the candidate genes (RDX, SNX16, OPA1, SOD2 and CYP1B1) is unlikely to confer major risk to develop normal tension glaucoma in the German population. In contrast, we observed a trend towards association of single SNPs in OPTN, MFN1, MFN2 and PARL. The SNPs of OPTN, MFN2 and PARL were further analysed by multimarker haplotype-based association testing. We identified a risk haplotype being more frequent in patients and a vice versa situation for the complementary protective haplotype in each of the three genes.Common variants of OPTN, PARL, MFN1 and MFN2 should be analysed in other cohorts to confirm their involvement in normal tension glaucoma.The term glaucoma describes a heterogeneous group of optic neuropathies. Yet progressive loss of retinal ganglion cells (RGCs) and optic nerve axons, corresponding visual field loss and characteristic optic nerve head cupping is common in all forms of glaucoma. The three major risk factors for the development of glaucoma are elevated intraocular pressure (IOP), advanced age and a positive family history. It is estimated, that by 2010, 60 million people will suffer from glaucoma and that the disease will be the second leading cause of blindness worldwide [1].Primary open angle glaucoma (POAG) is the most frequent of all glaucoma types. In approximately one third of all Caucasian POAG patients the IOP is within the average ra
Social anxiety and cardiovascular responses to active coping conditions
Psychology Science , 2006,
Abstract: This study assessed the influence of trait social anxiety on cardiovascular, emotional and behavioral responses to active performance situations representing social and cognitive demands. Thirty-six male and thirty-six female students categorized as either high or low in trait social anxiety performed a mental arithmetic task and two interpersonal tasks requiring persuasive behavior: Preparation and Performance of a Speech, Role-played Interpersonal Interactions. The cardiovascular effects of social anxiety varied over experimental stressors and appear to reflect differences in effort or task engagement rather than differential affective experiences. During Role-played Interactions high socially anxious subjects displayed lower increases in systolic blood pressure compared to low anxious participants. This effect was partially mediated by behavioral indicators of social competence and suggests a more inhibited coping approach of socially anxious participants. Findings for Mental Arithmetic were in the opposite direction, high socially anxious subjects displayed greater heart rate effects. In the absence of group differences in state anxiety this effect might result from stronger audience effects on effort or task motivation in socially anxious participants. These findings strengthen the view that active performance situations elicit cardiovascular effects that are largely attributable to differences in task engagement. The data also indicate the importance of considering situational factors in social anxiety research.
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O Schwab, Uta Tacke, Friedrich K Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard, Georg F Hoffmann
Orphanet Journal of Rare Diseases , 2011, DOI: 10.1186/1750-1172-6-44
Abstract: In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated.Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two.Physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria, used as a gold standard for NBS. Extended NBS entails many different interrelated variables which need to be carefully evaluated and optimized. More reports from different parts of the world are needed to allow a comprehensive assessment of the likely benefits, harms and costs in different populations.The advent of tandem m
Evaluation of the Circulation Patterns in the Black Sea Using Remotely Sensed and in Situ Measurements  [PDF]
Robert Toderascu, Eugen Rusu
International Journal of Geosciences (IJG) , 2013, DOI: 10.4236/ijg.2013.47094

The objective of the present work is to provide an overview of the general circulation features in the Black Sea basin. In order to achieve this, 18 years (1993-2010) of satellite data coming from the Aviso website were analyzed. A description of the general circulation patterns in the Black Sea is first presented. This is followed by statistical analyses of the satellite data in 20 points covering the entire area of the sea. The reference points were chosen as follows: 12 points along the Rim cyclonic current, 3 points inside the Rim cyclonic current, 4 points on the edge of two of the biggest anticyclonic gyres outside the Rim current and one point in the northwestern shelf area of the basin. Rose graphics were drawn for the reference points for winter and summer time. Finally, 9 years of in situ data obtained from the Gloria drilling platform were analyzed and compared with the satellite data. The present study shows that most of the reference points are sensitive to seasonal changes. The current velocities depend mostly on the points location: the points located on the Rim current and on the nearshore anticyclonic eddies present higher values than the ones located in or outside the general circulation features.

A Scalar Acoustic Equation for Gases, Liquids, and Solids, Including Viscoelastic Media  [PDF]
Eugen Mamontov, Viktor Berbyuk
Journal of Applied Mathematics and Physics (JAMP) , 2014, DOI: 10.4236/jamp.2014.210109
Abstract: The work deals with a mathematical model for real-time acoustic monitoring of material parameters of media in multi-state viscoelastic engineering systems continuously operating in irregular external environments (e.g., wind turbines in cold climate areas, aircrafts, etc.). This monitoring is a high-reliability time-critical task. The work consistently derives a scalar wave PDE of the Stokes type for the non-equilibrium part (NEP) of the average normal stress in a medium. The explicit expression for the NEP of the corresponding pressure and the solution-adequateness condition are also obtained. The derived Stokes-type wave equation includes the stress relaxation time and is applicable to gases, liquids, and solids.
Security & Privacy Implications in the Placement of Biometric-Based ID Card for Rwanda Universities  [PDF]
Eugen Harinda, Etienne Ntagwirumugara
Journal of Information Security (JIS) , 2015, DOI: 10.4236/jis.2015.62010
Abstract: Biometric authentication systems are believed to be effective compared to traditional authentication systems. The introduction of biometrics into smart cards is said to result into biometric-based smart ID card with enhanced security. This paper discusses the biometric-based smart ID card with a particular emphasis on security and privacy implications in Rwanda universities environment. It highlights the security and implementation issues. The analysis shows that despite the necessity to implement biometric technology, absence of legal and regulatory requirements becomes a challenge to implementation of the proposed biometric solution. The paper is intended to engage a broad audience from Rwanda universities planning to introduce the biometric-based smart ID cards to verify students and staff for authentication purpose.
The Third-Order Viscoelastic Acoustic Model Enables an Ice-Detection System for a Smart Deicing of Wind-Turbine Blade Shells  [PDF]
Eugen Mamontov, Viktor Berbyuk
Journal of Applied Mathematics and Physics (JAMP) , 2016, DOI: 10.4236/jamp.2016.410197
Abstract: The present work is based on the third-order partial differential equation (PDE) of acoustics of viscoelastic solids for the quasi-equilibrium (QE) component of the average normal stress. This PDE includes the stress-relaxation time (SRT) for the material and is applicable at any value of the SRT. The notion of a smart deicing system (SDS) for blade shells (BSs) of a wind turbine is specified. The work considers the stress in a BS as the one caused by the operational load on the BS. The work develops key design issues of a prospective ice-detection system (IDS) able to supply an array of the heating elements of an SDS with the element-individual spatiotemporal data and procedures for identification of the material parameters of atmospheric-ice (AI) layer accreted on the outer surfaces of the BSs. Both the SDS and IDS flexibly allow for complex, curvilinear and space-time-varying shapes of BSs. The proposed IDS presumes monitoring of the QE components of the normal stresses in BSs. The IDS is supposed to include an array of pressure-sensing resistors, also known as force-sensing resistors (FSRs), and communication hardware, as well as the parameter-identification software package (PISP), which provides the identification on the basis of the aforementioned PDE and the data measured by the FSRs. The IDS does not have hardware components located outside the outer surfaces of, or implanted in, BSs. The FSR array and communication hardware are reliable, and both cost- and energy-efficient. The present work extends methods of structural-health/operational-load monitoring (SH/OL-M) with measurements of the operational-load-caused stress in closed solid shells and, if the prospective PISP is used, endows the methods with identification of material parameters of the shells. The identification algorithms that can underlie the PISP are computationally efficient and suitable for implementation in the real-time mode. The identification model and algorithms can deal with not only the single-layer systems such as the BS layer without the AI layer or two-layer systems but also multi-layer systems. The outcomes can be applied to not only BSs of wind turbines but also non-QE closed single- or multi-layer deformable solid shells of various engineering systems (e.g., the shells of driver or passenger compartments of ships, cars, busses, airplanes, and other vehicles). The proposed monitoring of the normal-stress QE component in the mentioned shells extends the methods of SH/OL-M. The topic for the nearest research is a better adjustment of the settings for the FSR-based
Propagation of Acoustic Waves Caused by the Accelerations of Vibrating Hand-Held Tools in Viscoelastic Soft Tissues of Human Hands and a Mechanobiological Picture for the Related Injuries  [PDF]
Eugen Mamontov, Viktor Berbyuk
Journal of Applied Mathematics and Physics (JAMP) , 2017, DOI: 10.4236/jamp.2017.510169
Abstract: As is well known, hand-arm vibration syndrome (HAVS), or vibration-induced white finger (VWF), which is a secondary form of Raynaud’s syndrome, is an industrial injury triggered by regular use of vibrating hand-held tools. According to the related biopsy tests, the main vibration-caused lesion is an increase in the thickness of the artery walls of the small arteries and arterioles resulted from enlarged vascular smooth muscle cells (VSMCs) in the wall layer known as tunica media. The present work develops a mechanobiological picture for the cell enlargement. The work deals with acoustic variables in solid materials, i.e., the non-equilibrium components of mechanical variables in the materials in the case where these components are weakly non-equilibrium. The work derives an explicit expression for the infinite-time cell-volume relative enlargement. This enlargement is directly affected by the acoustic pressure in the soft living tissue (SLT). In order to reduce the enlargement, one can reduce either the ratio of the acoustic pressure in the SLT to the cell bulk modulus or the relaxation time induced by the cell osmosis, or both the characteristics. Also, a mechanoprotective role of the above relaxation time in the cell-volume maintenance is noted. The above mechanobiological picture focuses attention on the pressure in an SLT and, thus, modeling of propagation of acoustic waves caused by the acceleration of a vibrating hand-held tool. The present work analyzes the propagation along the thickness of an infinite planar layer of an SLT. The work considers acoustic modeling. As a general viscoelastic acoustic model, the work suggests linear non-stationary partial integro-differential equation (PIDE) for the weakly non-equilibrium component of the average normal stress (ANS) or, briefly, the acoustic ANS. The PIDE is, in the exponential approximation for the normalized stress-relaxation function (NSRF) reduced to the third-order linear non-stationary partial differential equation (PDE), which is of the Zener type. The unique advantage of the PIDE is that it presents a compact model for the acoustic ANS in an SLT, which explicitly includes the NSRF, thereby enabling a consistent description of the lossy-propagation effects inherent in SLTs. The one-spatial-coordinate version of this PDE in the planar SLT layer with the corresponding boundary conditions is considered. The relevance of these settings is motivated by a conclusion of other authors, which is based on the results of the frequency-domain simulation in three spatial coordinates. The boundary-value
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