Search results for " Bilateral"

showing 10 items of 31 documents

Extensive molecular analysis of patients bearing CFTR-related disorders.

2012

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

Epithelial sodium channelcongenital hereditary and neonatal diseases and abnormalitiesCystic fibrosis CFTR SLC26A SCNNCystic FibrosisAnion Transport ProteinsDNA Mutational Analysismolecular analysiCystic Fibrosis Transmembrane Conductance RegulatorGene mutationPathology and Forensic Medicinecongenital bilateral absence of vasa deferentesExonGene Frequencydisseminated bronchiectasiscongenital bilateral absence of vasa deferenteHumansTrypsinmolecular analysisEpithelial Sodium ChannelsGeneCells CulturedGenetic Association StudiesGeneticsbiologydisseminated bronchiectasiEpithelial Cellsrespiratory systemrecurrent pancreatitidigestive system diseasesCystic fibrosis transmembrane conductance regulatorrespiratory tract diseasesSolute carrier familyCFTR related disordersTrypsin Inhibitor Kazal PancreaticCase-Control StudiesRNA splicingMutationbiology.proteinMolecular MedicineCFTR related disorderSLC26 familyCarrier ProteinsNa channel ENaCMinigenerecurrent pancreatitis
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Problemi di dinamica concordataria

2011

principio di laicitàpolemica anticoncordatariaart. 8 Cost.principio di bilateralitàart. 3 Cost.libertà religiosaChiesa cattolicaSettore IUS/11 - Diritto Canonico E Diritto Ecclesiasticopluralismolaicitàconfessioni religioselegge ordinariapluralismo democraticoCostituzioneprincipi supremiart. 7 Cost.Statorapporti tra Stato e Chiesaprincipio del pluralismo democraticorapporti bilateraliculti ammessiConcordatolegge specialeragionevole discriminazionelegge comunelegge sui culti ammessiprivilegioPatti lateranensi
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Adénocarcinome de la glande lacrymale dans un rétinoblastome bilatéral traité avec radiothérapie externe : à propos d’un cas

2011

This clinical case report describes the clinical findings and diagnosis of lacrimal gland adenocarcinoma that developed 20 years after external beam radiotherapy in the treatment of bilateral retinoblastoma. Visual acuity, slit lamp biomicroscopy, fundus color photography, nuclear magnetic resonance, lateral orbitotomy and histological analysis are described.

Visual acuityRadiotherapygenetic structuresLacrimal Gland AdenocarcinomaSettore MED/30 - Malattie Apparato Visivobusiness.industrymedicine.medical_treatmentFundus (eye)eye diseasesRadiation therapyBilateral retinoblastomaOphthalmologyLateral orbitotomyAdenocarcinoma of the lacrimal gland; Radiotherapy; Bilateral retinoblastomaAdenocarcinoma of the lacrimal glandmedicinesense organsExternal beam radiotherapyBilateral retinoblastomaSlit lamp biomicroscopymedicine.symptombusinessNuclear medicineJournal Français d'Ophtalmologie
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Evolution of otosclerosis to cochlear implantation.

2011

Abstract Introduction Otosclerosis is an osteodystrophy of the labyrinthine capsule producing conductive hearing loss. If the process invades the cochlea, a sensorineural hearing loss usually takes place. The cochlear implant is a good alternative in these patients. Objective To ascertain the behaviour of cochlear implantation (CI) in otosclerosis. Material and methods We reviewed a database of 250 patients who underwent CI, performing a retrospective study of 13 patients with clinical, audiological and/or imaging findings of bilateral otosclerosis. The 26 ears were studied as to their natural history, previous surgeries, evolution to profound hearing loss, computed tomography (CT) images, …

Malemedicine.medical_specialtymedicine.medical_treatmentHearing Loss SensorineuralHearing Loss ConductiveDentistryStapes SurgeryHearing Loss BilateralTinnitusCochlear implantotorhinolaryngologic diseasesmedicineHumansOsteodystrophyAgedRetrospective Studiesbusiness.industryImplant failureRetrospective cohort studyGeneral MedicineMiddle Agedmedicine.diseaseFacial nerveSurgeryConductive hearing lossFacial NerveCochlear ImplantsOtosclerosisTreatment OutcomeDisease ProgressionOtosclerosisSensorineural hearing lossFemalebusinessTomography X-Ray ComputedActa otorrinolaringologica espanola
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Sortilegios y prodigios como antídotos de realidad. Todo es posible en Granada

2011

La película Todo es posible en Granada (José Luis Sáenz de Heredia, 1954) narra en clave de comedia fantástica un relato que transcurre a medidos los años cincuenta del pasado siglo en el contexto de los acuerdos bilaterales entre España y Estados Unidos, dando cuenta de las diferencias interculturales existentes entre la sociedad española, aferrada a sus tradiciones, y los visitantes extranjeros que sólo desean confirmar los prejuicios y estereotipos que alberga su imaginario sobre el país. Así, desde una envoltura formal impecable, se construye un discurso que ajusta sus premisas al ideario oficial del régimen, pero alejado de la realidad concreta y trufado de numerosas contradicciones. T…

estereotipos culturalesUNESCO::CIENCIAS DE LAS ARTES Y LAS LETRASUNESCO::HISTORIAacuerdos bilaterales España-EEUU:CIENCIAS DE LAS ARTES Y LAS LETRAS [UNESCO]comedia fantásticamirada turísticaJosé Luis Sáenz de Heredia:HISTORIA [UNESCO]imagen de España
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Giant uterus in a patient with Klippel-Trenaunay syndrome. Report of a case

2022

Introduction: Klippel-Trenaunay syndrome is an uncommon congenital disease also called angio-osteodystrophy syndrome for its typical disorders characterized by abnormal growth of the soft tissues and bones and vascular malformations. Case report: In this report, we present a rare case of a 46-year-old nulliparous woman with Klippel-Trenaunay syndrome. She suffered from an abnormal uterine bleeding accompanied by severe anemia with need for multiple blood transfusions. At the time of admission, physical examination revealed port-wine stains and varicose veins on her lower limbs and hypertrophy of left lower extremity. We carried out an open bilateral hysteroannexectomy. Histopathology examin…

Genitourinary - bilateral hysteroannexectomySettore MED/18 - Chirurgia GeneraleUterine bleedingUterusGynecological surgerySurgeryKlippelTrenaunay syndromeSettore MED/40 - Ginecologia E OstetriciaInternational Journal of Surgery Case Reports
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Chancre of the eyelid as manifestation of primary syphilis, and precocious chorioretinitis and uveitis in an HIV-infected patient: a case report

2012

Abstract Background Ocular syphilis is often difficult to diagnose because of the wide variation in clinical features. HIV co-infection may further complicate the picture. Case presentation Herein the authors report an unusual primary syphilitic ocular lesion in a 45-year-old Italian HIV-infected bisexual man who presented with a unilateral eyelid lesion. Associated precocious signs and symptoms in the posterior segment of both eyes, bilateral chorioretinitis and uveitis, are described. Intravenous penicillin and steroid treatment produced a rapid improvement in clinical status and complete resolution. Conclusions Careful questioning about sexual behavior is crucial for unmasking unusual fe…

Malemedicine.medical_specialtyAnti-Inflammatory AgentsPrimary SyphilisHIV InfectionsCase ReportPenicillinsOcular syphilislcsh:Infectious and parasitic diseasesUveitisLesionHiv infectedmedicineHumanslcsh:RC109-216HIV-infectedChancre of the eyelidSettore MED/30 - Malattie Apparato Visivobusiness.industryOcular syphilis HIV-infected Chancre of the eyelid Bilateral chorioretinitis UveitisChorioretinitisEyelidsMiddle Agedmedicine.diseaseChancreDermatologyBilateral chorioretinitiseye diseasesSurgeryPosterior segment of eyeballTreatment OutcomeInfectious Diseasesmedicine.anatomical_structureChorioretinitisItalyInjections IntravenousSteroidssense organsEyelidmedicine.symptombusinessUveitisChancreBMC Infectious Diseases
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Remodeling Pattern of Spinal Canal after Full Endoscopic Uniportal Lumbar Endoscopic Unilateral Laminotomy for Bilateral Decompression: One Year Repe…

2022

Objective: There is limited literature on repetitive postoperative MRI and clinical evaluation after Uniportal Lumbar Endoscopic Unilateral Laminotomy for Bilateral Decompression. Methods: Clinical visual analog scale, Oswestry Disability Index, McNab’s criteria evaluation and MRI evaluation of the axial cut spinal canal area of the upper end plate, mid disc and lower end plate were performed for patients who underwent single-level Uniportal Lumbar Endoscopic Unilateral Laminotomy for Bilateral Decompression. From the evaluation of the axial cut MRI, four types of patterns of remodeling were identified: type A: continuous expanded spinal canal, type B: restenosis with delayed expansio…

spinal stenosisendoscopic spine surgeryClinical Biochemistrydegenerative spine diseaseminimally invasive spine surgeryendoscopic spine surgery; lumbar endoscopic unilateral laminotomy with bilateral decompression; degenerative spine disease; spinal stenosis; remodeling of spine; minimally invasive spine surgerylumbar endoscopic unilateral laminotomy with bilateral decompressionremodeling of spineDiagnostics; Volume 12; Issue 4; Pages: 793
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Ortodoncia interceptiva: Necesidad de diagnóstico y tratamiento temprano en las mordidas cruzadas transversales

2006

Las mordidas cruzadas corresponden a una maloclusión en el plano transversal del maxilar definiéndose como la alteración en la correcta articulación de las cúspides palatinas de molares y premolares superiores con las fosas de molares y premolares inferiores. Dada la frecuencia de alteraciones transversales que se presentan en la consulta de odontología general, vemos la necesidad de realizar un buen diagnostico diferencial de las mismas para poder adecuar nuestros tratamientos de la forma más eficaz y con los Resultados más estables posibles. Para ello se ha de diferenciar entre compresión esquelética, compresión dentoalveolar y compresión dental ya que estos tres supuestos requerirán trat…

Quad-HelixAnomalías transversalesbilateral crossbitestomatognathic systemunilateral crossbiteHaas expanderUNESCO::CIENCIAS MÉDICASTransverse anomaliesmordida cruzada bilateral:CIENCIAS MÉDICAS [UNESCO]Disyuntormordida cruzada unilateral
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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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