Search results for "Rash"

showing 10 items of 377 documents

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

2016

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. …

0301 basic medicineGeneticsCRASH syndromeHydrocephaluSequence analysisSpastic paraplegiaMASA syndromeL1-diseaseBiologyCorpus callosummedicine.diseaseBiochemistryHuman geneticsHydrocephalus03 medical and health sciences030104 developmental biologyIntellectual disabilityGeneticsmedicineAdducted thumbDifferential diagnosisL1 syndromeMolecular BiologyGenes & Genomics
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Cutaneous manifestations associated with anosmia, ageusia and enteritis in SARS-CoV-2 infection - a possible pattern? Observational study and review …

2021

BACKGROUND: The cutaneous manifestations of coronavirus disease 2019 (COVID-19) have been covered insufficiently in the literature. METHODS: Thirty-nine patients admitted to the study hospital with confirmed COVID-19 who experienced various skin manifestations during hospitalization or in the convalescence period, were analysed retrospectively. RESULTS: Thirty-nine patients with COVID-19, admitted to the study hospital between 23 March and 12 September 2020, had intra-infectious rash or lesions of cutaneous vasculitis during convalescence. The most common cutaneous manifestations of COVID-19 were erythematous and erythematous papular rash. Twenty-seven of the 39 patients had anosmia (69.2%)…

0301 basic medicineMaleACE2 angiotensin‐converting enzyme 2ErythemaReceptor expressionTNF Tumor Necrosis Factor alphaInfectious and parasitic diseasesRC109-216B cells B lymphocyteslesions0302 clinical medicine030212 general & internal medicineskin and connective tissue diseasesCOVID coronavirus disease 2019media_commonEnterocolitisNK cells Natural killer cellsConvalescenceGeneral MedicineRashEnteritisInfectious DiseasesFemalemedicine.symptomCD Cluster of differentiationIHC immunohistochemistryMicrobiology (medical)medicine.medical_specialtyRT real-time reverse transcriptase–polymerase chain reactionmedia_common.quotation_subjectAnosmia030106 microbiologyAnosmiaSkin DiseasesArticle03 medical and health sciencesmedicineHumansbiopsySARS Severe acute respiratory syndrome coronavirus 2HE Hematoxylin and eosin stainRetrospective Studiescutaneous manifestationsbusiness.industrySARS-CoV-2SARS-CoV-2 infectionCOVID-19Ageusiamedicine.diseaseDermatologyPneumoniaIL 1 Interleukin 1IFN-γ Interferon γbusinessAgeusiaInternational Journal of Infectious Diseases
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2017

Significant progress in nonlinear and ultrafast optics has recently opened new and exciting opportunities for terahertz (THz) science and technology, which require the development of reliable THz sources, detectors, and supporting devices. In this work, we demonstrate the first solid-state technique for the coherent detection of ultra-broadband THz pulses (0.1–10 THz), relying on the electric-field-induced second-harmonic generation in a thin layer of ultraviolet fused silica. The proposed CMOS-compatible devices, which can be realized with standard microfabrication techniques, allow us to perform ultra-broadband detection with a high dynamic range by employing probe laser powers and bias v…

0301 basic medicineMaterials sciencebusiness.industryDynamic rangeTerahertz radiationDetectorPhysics::OpticsSecond-harmonic generationLaser01 natural sciences7. Clean energyAtomic and Molecular Physics and OpticsElectronic Optical and Magnetic Materialslaw.invention03 medical and health sciences030104 developmental biologyOpticslaw0103 physical sciencesOptoelectronicsHeterodyne detection010306 general physicsbusinessUltrashort pulseMicrofabricationOptica
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Crack formation and cleaving of sapphire with ultrafast bessel beams

2017

Sapphire is a transparent crystalline dielectric of high hardness with many important applications, specifically to the next-generation touchscreens and to the LED growth, as substrates. However, sapphire cutting by ablative techniques is rather slow therefore fast material separation techniques are needed. Material separation by “stealth dicing” has been recently developed, it is based on material cleaving along a plane weakened by multiple ultrafast laser illuminations. This allows usually generating taper-free cutting and avoids material loss. However, the illuminated plane needs small spacing between the shot to shot (typically a few μm) and long damages inside the bulk. This requires l…

0301 basic medicineMaterials sciencebusiness.industryPlane (geometry)DielectricLaserlaw.invention03 medical and health sciencessymbols.namesake030104 developmental biologyOpticsShot (pellet)lawsymbolsSapphireWafer dicingbusinessUltrashort pulseBessel function
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Identification of polymorphic variants associated with erlotinib-related skin toxicity in advanced non-small cell lung cancer patients by DMET microa…

2016

Purpose: Erlotinib is a targeted agent commonly used in advanced non-small cell lung cancer (aNSCLC). However, drug-related skin toxicity often may affect the quality of life of cancer patients and lead to treatment discontinuation. Genetic polymorphisms in drug transporters and metabolizing enzymes play a major role in the interindividual variability in terms of efficacy and toxicity of erlotinib treatment. The aim of our study was to identify genetic determinants in adsorption, distribution, metabolism, and excretion genes influencing skin rash (SR) by the novel drug-metabolizing enzyme and transporter (DMET) microarray Affymetrix platform in aNSCLC patients. Methods: In a retrospective s…

0301 basic medicineOncologyMaleCancer ResearchLung Neoplasmsgenetic structuresMicroarrayPharmacologyToxicologySkin rash.0302 clinical medicineNon-small cell lung cancerCarcinoma Non-Small-Cell LungGenotypePharmacology (medical)Erlotinib HydrochlorideCholecalciferolOligonucleotide Array Sequence AnalysisSkin rashMiddle AgedOncologyErlotinib030220 oncology & carcinogenesisFemaleErlotinibDrug Eruptionsmedicine.drugmedicine.medical_specialtyGenotypeSingle-nucleotide polymorphismAntineoplastic AgentsPolymorphism Single Nucleotide03 medical and health sciencesErlotinib HydrochlorideInternal medicinemedicineHumansLung cancerAgedRetrospective StudiesPharmacology25-Hydroxyvitamin D3 1-alpha-HydroxylaseInflammationbusiness.industryMicroarray analysis techniquesCancerSingle nucleotide polymorphismsmedicine.diseaseSingle nucleotide polymorphism030104 developmental biologyDMETQuality of Lifebusiness
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A New Experiment for the Measurement of the g-Factors of 3He+ and 3He2+.

2018

We describe a new experiment that aims at a parts per billion measurement of the nuclear magnetic moment of 3He2+ and a 100 parts per trillion measurement of the Zeeman effect of the ground-state hyperfine splitting of 3He+. To enable ultrafast and efficient experiment cycles the experiment relies on new technologies such as sympathetic laser cooling of single 3He-ions coupled to a cloud of Doppler-cooled 9Be-ions in a Penning trap or a novel spin-state detection scheme.

0301 basic medicinePhysicsHistoryZeeman effectPenning trap01 natural sciencesComputer Science ApplicationsEducation03 medical and health sciencessymbols.namesake030104 developmental biologyLaser coolingTheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY0103 physical sciencesNuclear magnetic momentsymbolsPhysics::Atomic PhysicsAtomic physicsPräzisionsexperimente - Abteilung Blaum010306 general physicsUltrashort pulseHyperfine structure
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The Management of Staphylococcal Toxic Shock Syndrome. A Case Report

2016

Abstract Staphylococcal toxic shock syndrome (TSS) is most frequently produced by TSS toxin-1 (TSST-1) and Staphylococcal enterotoxin B (SEB), and only rarely by enterotoxins A, C, D, E, and H. Various clinical pictures can occur depending on severity, patient age and immune status of the host. Severe forms, complicated by sepsis, are associated with a death rate of 50-60%. The case of a Caucasian female infant, aged seven weeks, hospitalized with a diffuse skin rash, characterized as allergodermia, who initially developed TSS with axillary intertrigo, is reported. TSS was confirmed according to 2011 CDC criteria, and blood cultures positive for Methicillin-sensitive Staphylococcus aureus (…

0301 basic medicinemedicine.medical_specialtyIntertrigogenetic structuresmedicine.drug_classAntibioticsCase Reportmedicine.disease_causetssSepsis03 medical and health sciences0302 clinical medicine030225 pediatricsInternal medicinemedicineAcidosisRC86-88.9business.industryMortality rateMedical emergencies. Critical care. Intensive care. First aidstaphylococcal toxic shock syndromebacterial infections and mycosesmedicine.diseaseRash030104 developmental biologyStaphylococcus aureusSuperinfectionmedicine.symptombusinessmanagementThe Journal of Critical Care Medicine
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Healthy but risky: A descriptive study on cyclists’ encouraging and discouraging factors for using bicycles, habits and safety outcomes

2019

Abstract Transportation is a necessary process that requires not only adequate means, but also individual choices. And apparently, the recent boom of alternative modes of transportation has substantially changed people’s perceptions of cycling, as well as the reasons why they decide to use a bike. Nevertheless, people identify some motives that encourage this use together with the perceived risks and the discouraging factors which affect the choice of using a bike, thus making it important to explore all these elements in the light of the empirical evidence. The objective of this study was to explore and describe the encouraging and discouraging reasons behind the use of bikes among cyclist…

050210 logistics & transportationeducation.field_of_study05 social sciencesPopulationTransportationCrashAffect (psychology)Sustainable transport0502 economics and businessAutomotive EngineeringSustainability0501 psychology and cognitive sciencesMarketingDescriptive researchEmpirical evidencePsychologyeducationCycling050107 human factorsApplied PsychologyCivil and Structural EngineeringTransportation Research Part F: Traffic Psychology and Behaviour
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Cutaneous manifestations in COVID‐19: a new contribution

2020

Abstract We have read with great interest Dr Recalcati’s review about skin manifestations in COVID‐19 as it is the first report on this subject1. In a recent review on clinical characteristics of coronavirus disease 2019 in China, rash was observed in 0,2% of cases2. However, from the trained eyes of a dermatologist, this percentage may be higher.

2019-20 coronavirus outbreakmedicine.medical_specialtyskinCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)DermatologyLetter to Editor030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineCOVID‐19medicineSkin manifestationscutaneous manifestationsbusiness.industrycutaneousmedicine.diseaseDermatologyRashPneumoniaInfectious Diseases030220 oncology & carcinogenesisDifferential diagnosismedicine.symptombusinessCoronavirus InfectionsJournal of the European Academy of Dermatology and Venereology
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Bicycle Rider Behavior and Crash Involvement in Australia.

2021

This research investigated how behaviours and attitudes of bicycle riders influence crash frequency and severity. The study recruited 1102 Australian bicycle riders for an online survey. The survey comprised questions on demographics, frequency of riding and the number and severity of traffic crashes during the last five years. The survey included the Cycling Behaviour Questionnaire and the Cyclist Risk Perception and Regulation Scale. Overall, there were low levels of errors and violations reported by participants indicating that these behaviours were on average never or rarely exhibited while riding a bicycle. Conversely, participants reported high levels of engagement in positive behavio…

212 Civil and construction engineeringcyclingDemographicsCrash severityHealth Toxicology and Mutagenesismedia_common.quotation_subjectlcsh:MedicineCrashArticle03 medical and health sciences0302 clinical medicinePromotion (rank)Surveys and Questionnaires0502 economics and businessHumans030212 general & internal medicinemedia_common050210 logistics & transportationlcsh:R05 social sciencesPublic Health Environmental and Occupational HealthAccidents TrafficAustraliabehaviourBicyclingRisk perceptionAttitudeCrash frequencyScale (social sciences)road safetyPsychologyhuman activitiesDemographyInternational journal of environmental research and public health
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