Search results for "Unknown"

showing 10 items of 445 documents

Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Deregulation of miR-324/KISS1/kisspeptin in early ectopic pregnancy: mechanistic findings with clinical and diagnostic implications

2019

[Abstract] BACKGROUND: Ectopic pregnancy is a life-threatening condition for which novel screening tools that would enable early accurate diagnosis would improve clinical outcomes. Kisspeptins, encoded by KISS1, play an essential role in human reproduction, at least partially by regulating placental function and possibly embryo implantation. Kisspeptin levels are elevated massively in normal pregnancy and reportedly altered in various gestational pathologic diseases. Yet, the pathophysiologic role of KISS1/kisspeptin in ectopic pregnancy has not been investigated previously. OBJECTIVE: The purpose of this study was to evaluate changes of KISS1/kisspeptin levels in ectopic pregnancy and thei…

BIOMARKERdiagnosisEctopic pregnancyPlacentaUNKNOWN LOCATIONPhysiology0302 clinical medicineKisspeptinPregnancyDiagnosis030212 general & internal medicineKisspeptins030219 obstetrics & reproductive medicineEctopic pregnancyObstetrics & GynecologyObstetrics and GynecologyPregnancy Ectopicmedicine.anatomical_structureectopic pregnancyBiomarker (medicine)GestationFemaleKISSPEPTINLife Sciences & BiomedicineSERUM PROGESTERONEhormones hormone substitutes and hormone antagonistsmiR-324-3pEXPRESSIONDown-RegulationGestational AgeReal-Time Polymerase Chain ReactionVALIDATION03 medical and health sciencesKisspeptinsPlacentamicroRNAmedicineHumansMESSENGER-RNASRNA MessengerObstetrics & Reproductive MedicinePregnancyScience & Technologybusiness.industryDecision TreesKISS 1BiomarkerEmbryo Mammalianmedicine.diseaseMicroRNAsEarly DiagnosisCase-Control Studies1114 Paediatrics and Reproductive MedicineKISS1businessBiomarkers
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Erratum: Melanoma Unknown Primary Brain Metastasis Treatment With ECHO-7 Oncolytic Virus Rigvir: A Case Report

2018

Melanoma is considered an aggressive malignancy with a tendency of forming metastasis in the brain. Less than 10% of all melanoma cases present with unknown primary tumor location. This diagnose is yet to be fully understood, because there are only theoretical assumptions about the nature of the disease. Melanoma brain metastases have many severe side effects and, unfortunately, any disease related to the brain has limited therapeutic options due to the blood–brain barrier. The course of the disease after a treatment course is complicated to predict, and it is difficult to obtain long-lasting remission. In this report, we describe a female patient with unknown primary melanoma brain metasta…

Cancer ResearchCase ReportBlood–brain barrierblood–brain barrierlcsh:RC254-282Text miningmelanoma brain metastasisRigvir®medicineECHO-7 virusoncolytic virusbusiness.industryMelanomaintranasalEcho (computing)medicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensOncolytic virusmedicine.anatomical_structureOncologymelanoma unknown primaryCancer researchUnknown primaryErratumbusinessBrain metastasisFrontiers in Oncology
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Unknown primary tumors

2011

An unknown primary tumor (UPT) is defined by the presence of a metastatic cancer without a known primary site of origin despite a standardized diagnostic workup. Clinically, UPTs show rapid progression and early dissemination, with signs and symptoms related to the metastatic site. The molecular bases of their biology remain largely unknown, with no evidence as to whether they represent a distinct biological entity. Immunohistochemistry remain the best diagnostic tool in term of cost-effectiveness, but the time-consuming "algorithmic process" it relies on has led to the application of new molecular techniques for the identification of the primary site of UPTs. For example, several microarra…

Cancer Researchbusiness.industryGene Expression ProfilingBiological entityMEDLINETreatment optionsSigns and symptomsBioinformaticsFunctional imagingMicroRNAsOncologyUnknown primary tumors UPTImmunologyUnknown Primary TumorsGeneticsUnknown primaryAnimalsHumansNeoplasms Unknown PrimaryMedicinebusinessSite of originBiochimica et Biophysica Acta (BBA) - Reviews on Cancer
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Prognostic and Predictive Significance of Pharmacogenetic Analysis in Patients with Carcinomas of Unknown Primary (CAUP)

2012

ABSTRACT Purpose To investigate the prognostic/predictive significance of the expression of BRCA1, ERCC1, RRM1, TOPO-I, TOPO-IIa, TOPO-IIb, TXR1 TYMS and HIF1a mRNA in patients with Carcinomas of Unknown Primary (CaUP). Material and methods Ninety-three patients with CaUP and available tumoral samples diagnosed in three institutions were included in the study. The mRNA levels of the target genes were determined by quantitative real-time PCR from microdissected cells derived from patients' tumoral specimens. β-actin and PGK1 were used as reference genes. Results Successful amplification of at least one gene was achieved in all samples. BRCA1, ERCC1, HIF1a and TXR1 were amplified in all sampl…

Chemotherapymedicine.medical_specialtyTaxanebusiness.industrymedicine.medical_treatmentHematologyGastroenterologyHIF1AOncologyReference genesInternal medicinemedicineUnknown primaryIn patientERCC1businessClear cellAnnals of Oncology
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Contingency plan for the intensive care services for the COVID-19 pandemic☆☆☆

2020

In January 2020, the Chinese authorities identified a new virus of the Coronaviridae family as the cause of several cases of pneumonia of unknown aetiology. The outbreak was initially confined to Wuhan City, but then spread outside Chinese borders. On 31 January 2020, the first case was declared in Spain. On 11 March 2020, The World Health Organization (WHO) declared the coronavirus outbreak a pandemic. On 16 March 2020, there were 139 countries affected. In this situation, the Scientific Societies SEMICYUC and SEEIUC, have decided to draw up this Contingency Plan to guide the response of the Intensive Care Services. The objectives of this plan are to estimate the magnitude of the problem a…

Contingency planPandemiaCoronavirus disease 2019 (COVID-19)Pandemicbusiness.industryUnknown aetiologySARS-CoV-2OutbreakCOVID-19030208 emergency & critical care medicinemedicine.diseaseWorld healthArticleCoronavirus03 medical and health sciences0302 clinical medicine030228 respiratory systemIntensive careMaterial resourcesPandemicmedicineMedical emergencybusinessMedicina Intensiva
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A robust fault detection design for uncertain Takagi-Sugeno models with unknown inputs and time-varying delays

2013

Abstract This paper investigates the problem of robust fault detection system design for a class of uncertain Takagi–Sugeno (T–S) models. The system under consideration is subject to unknown input and time-varying delay. The fault detection system is designed such that the unknown input is thoroughly decoupled from residual signals generated by the fault detection system. Furthermore, the residual signals show the maximum possible sensitivity to the faults and the minimum possible sensitivity to the external disturbances. The model matching approach is utilized to tackle the effects of parametric uncertainties in the model of the system. The design procedure is presented in terms of Linear …

Engineeringbusiness.industryLinear Matrix InequalitiesComputer Science Applications1707 Computer Vision and Pattern RecognitionLinear matrixT-S modelResidualFault detection and isolationComputer Science ApplicationsTakagi sugenoControl theoryControl and Systems EngineeringSystems designSensitivity (control systems)Time-delayModel matchingbusinessFault detectionFault detection; Linear Matrix Inequalities; T-S model; Time-delay; Unknown input; Control and Systems Engineering; Analysis; Computer Science Applications1707 Computer Vision and Pattern RecognitionUnknown inputAnalysisParametric statistics
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Robust motion control of nonlinear quadrotor model with wind disturbance observer

2021

This paper focuses on robust wind disturbance rejection for nonlinear quadrotor models. By leveraging on nonlinear unknown observer theory, it proposes a nonlinear dynamic filter that, using sensors already on-board the aircraft, can estimate in real-time wind gust signals in the three dimensions. The wind disturbance is then treated as input to the PD controller for a quick and robust flight pathway in presence of disturbances. With this scheme, the wind disturbance can be precisely estimated online and compensated in real-time. Hence, the quadrotor can successfully reach its desired attitude and position. To show the effective and desired performance of the method, simulation results are …

General Computer ScienceObserver (quantum physics)PD controlComputer scienceGeneral EngineeringPID controllerNonlinear unknown input observersFilter (signal processing)Motion controlUnknown wind gust estimation and compensationTK1-9971Nonlinear systemControl theoryRobustness (computer science)QuadrotorGeneral Materials ScienceNonlinear unknown input observers; PD control; Quadrotor; Unknown wind gust estimation and compensationElectrical engineering. Electronics. Nuclear engineeringRobust controlMATLABcomputercomputer.programming_language
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Biomarkers in heart failure

2009

Nowadays, heart failure (HF) has an increasing prevalence, particularly in the elderly, and is becoming a clinical problem of epidemic proportion in terms of morbidity and mortality. Developing biological markers, that can aid in the diagnosis of HF and in the differentiation of congestive heart failure (CHF) from other causes of dyspnoea, will reduce the cost of health care. However, an ideal biomarker has not yet been identified. Potential markers of HF include neuro-hormonal mediators, markers of myocyte injury, and indicators of systemic inflammation. Among these, the BNP and NT-pro-BNP are the most widely studied and appear to be useful in patients with dyspnoea of unknown aetiology, a…

Heart Failuremedicine.medical_specialtybusiness.industryUnknown aetiologymedicine.diseaseSystemic inflammationHeart failureHealth caremedicineBiomarker (medicine)HumansIn patientMyocyte injurymedicine.symptomBiomarkers heart failurebusinessIntensive care medicineRisk assessmentBiomarkers
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Characterization of impervious layers using scale models and an inverse method

2009

We describe a novel procedure that uses an inverse method to determine unknown parameters for impervious layers used in multilayer structures. The proposed model of the multilayer structure is limited to an ideal double plate separated by an unbonded, fibrous, sound-absorbing material. Experimental data were obtained by nearfield acoustic holography for the calculation of the transmission loss of various multilayer structures mounted in a window in a wooden box designed specifically for this purpose. We used the Trochidis and Kalaroutis forecast model of acoustic insulation for multilayer structures, which is based on a spatial Fourier transform. The experimental pressure and velocity data …

Inverse methodsEngineeringAcoustics and UltrasonicsAcousticsImpedance couplingHolographyExperimental dataMultilayer structuresAnalysis modelslaw.inventionScale modelssymbols.namesakeOpticsUnknown parameterslawInput dataObservational errorSound absorbing materialsNearfield Acoustic Holographybusiness.industryTransmission lossMechanical EngineeringNumerical analysisSpatial Fourier TransformFORECAST modelAcoustic holographyInverse problemCondensed Matter PhysicsImpervious layersFourier transformMechanics of MaterialsFISICA APLICADAsymbolsbusinessStructural acousticsPosition sensorJournal of Sound and Vibration
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