Search results for " progress"

showing 10 items of 1287 documents

Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy

2007

Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…

AdultMaleIntraocular pressuremedicine.medical_specialtyVisual acuityAdolescentgenetic structuresMucopolysaccharidosis Imedicine.medical_treatmentOptic DiskVisual AcuityCorneal DiseasesIduronidaseDouble-Blind MethodOptic Nerve DiseasesMucopolysaccharidosis IHumansMedicineChildInfusions IntravenousPapilledemaIntraocular PressureCorneal transplantationbusiness.industryEnzyme replacement therapyRecombinant Proteinseye diseasesSurgeryOphthalmoscopyOphthalmologymedicine.anatomical_structureDisease ProgressionOptic nerveFemalesense organsmedicine.symptombusinessOptic discArchives of Ophthalmology
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Glut-1 Expression and In Situ CD1a/CD57 Immunologic Deficit in Keratoacanthoma and Squamous Cell Carcinoma of Immunocompetent Patients

2011

It is not easy to reach a differential diagnosis between keratoacanthoma (KA) and squamous cell carcinoma (SCC) and furthermore there is still considerable discussion about the relationship of these 2 tumors with immunity. To facilitate such a diagnosis, we assessed the Glut-1 antibody, reported to be strongly and diffusely expressed in SCC but never assessed in KA. We studied 43 lesions of immunocompetent patients: 17 SCCs, 13 typical KAs (tKAs), and 13 atypical KAs (aKAs), with histologic features of SCC in less than 30% of the lesions. In tKA, Glut-1 stained only the basal layers of the squamous nests (basal pattern) whereas in SCC the squamous nests were randomly and diffusely stained (…

AdultMaleKeratoacanthomaPathologymedicine.medical_specialtySkin NeoplasmsHistologySettore MED/08 - Anatomia PatologicaSkin DiseasesPathology and Forensic MedicineAntigens CD1Diagnosis DifferentialBasal (phylogenetics)CD57 AntigensAntigenBiomarkers TumorCarcinomamedicineHumansAgedAged 80 and overCD20biologybusiness.industryGlut-1 Keratoacanthoma Squamous cell carcinoma CD1aImmunityMiddle Agedmedicine.diseaseKeratoacanthomastomatognathic diseasesMedical Laboratory TechnologyExcitatory Amino Acid Transporter 2Carcinoma Squamous CellDisease Progressionbiology.proteinFemaleDifferential diagnosisSkin cancerbusinessCD8Applied Immunohistochemistry & Molecular Morphology
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Incidence, age at onset, and potential reasons of malignant transformation in recurrent respiratory papillomatosis patients: 20 years experience

2005

Forty-two patients with recurrent respiratory papillomatosis (RRP) were accepted into a multicenter prospective study in 1983 to 1990, treated with alfa-IFN 3 MU/m 2 3 times a week and then followed-up until August 1, 2003. All the patients who had disease progression with pulmonary spread were characterized by insufficient response to IFN-therapy and detection of HPV type 11. Five patients (4/5 smokers) presented malignant transformation in lungs or nasopharynx (mean RRP duration was 27.2 +/- 8 years from RRP onset and 14.6 +/- 6.3 years from pulmonary spread until malignant transformation) with persistent RRP in larynx. The results of long-term follow-up in RRP patients with HPV 11 underl…

AdultMaleLarynxmedicine.medical_specialtyLung NeoplasmsTime FactorsAdolescentMalignant transformation03 medical and health sciences0302 clinical medicineInternal medicineHumansMedicineProspective StudiesTreatment FailureAge of Onset030223 otorhinolaryngologyProspective cohort studyPapillomaHpv typesbusiness.industryIncidenceIncidence (epidemiology)Disease progressionNasopharyngeal NeoplasmsSurgeryCell Transformation Neoplasticmedicine.anatomical_structureOtorhinolaryngologyChild Preschool030220 oncology & carcinogenesisFemaleSurgeryNeoplasm Recurrence LocalRecurrent Respiratory PapillomatosisAge of onsetbusinessFollow-Up StudiesOtolaryngology–Head and Neck Surgery
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Corpus callosum function in verbal dichotic listening: inferences from a longitudinal follow-up of Relapsing-Remitting Multiple Sclerosis patients.

2009

This study conducted a follow-up of 13 early-onset slightly disabled Relapsing-Remitting Multiple Sclerosis (RRMS) patients within an year, evaluating both CC area measurements in a midsagittal Magnetic Resonance (MR) image, and Dichotic Listening (DL) testing with stop consonant vowel (C-V) syllables. Patients showed a significant progressive loss of posterior CC areas (isthmus and splenium) related to increasing EDSS scores and an enhancing right ear advantage (REA) over time. A significant correlation between posterior CC areas and DL scores emerged in both evaluations, being negative for the right and positive for the left ear. The pattern of correlations suggests that the CC can serve …

AdultMaleLinguistics and Languagemedicine.medical_specialtyCognitive NeuroscienceSpleniumExperimental and Cognitive PsychologyAudiologyNeuropsychological TestsCorpus callosumSeverity of Illness IndexLanguage and LinguisticsFunctional LateralityDevelopmental psychologyCorpus CallosumSpeech and HearingYoung AdultMultiple Sclerosis Relapsing-RemittingStop consonantVowelProhibitinsmedicineHumansActive listeningAge of OnsetAnalysis of VarianceDichotic listeningPhonologyCognitionMagnetic Resonance ImagingAcoustic StimulationAuditory PerceptionDisease ProgressionFemalePsychologyFollow-Up StudiesBrain and language
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Spontaneous regression of multiple melanocytic nevi after melanoma: report of 3 cases.

2014

Complete spontaneous regression of multiple melanocytic nevi after melanoma is an extremely rare phenomenon. We report 3 cases of patients with a history of melanoma that showed regression of almost all melanocytic nevi over time. One of the patients had 2 simultaneous primary cutaneous melanomas without metastasis. In the other 2 patients, regression of the melanocytic nevi was seen after the development of metastasis in lymph nodes. These patients had spontaneously developed an efficient immune response against melanocytes, and they would represent paradigmatic examples of the spontaneous immune responses in melanoma patients. Better understanding of the mechanisms involved in the complet…

AdultMaleLymphatic metastasismedicine.medical_specialtySkin NeoplasmsTime FactorsAdolescentmedicine.medical_treatmentBiopsyDermoscopyDermatologyPathology and Forensic MedicineMetastasisFatal OutcomeComplete regressionBiopsymedicineNevusHumansneoplasmsMelanomaNevus Pigmentedmedicine.diagnostic_testbusiness.industryMelanomaGeneral MedicineImmunotherapymedicine.diseaseDermatologyRegressionTreatment OutcomeNeoplasm Regression SpontaneousLymphatic MetastasisDisease ProgressionLymph Node ExcisionMelanocytesFemalebusinessThe American Journal of dermatopathology
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Age of onset of Cannabis use and cognitive function in first-episode non-affective psychosis patients: Outcome at three-year follow-up

2018

In recent years, the effects of cannabis use on cognitive functions in patients with psychosis have been widely studied. Recently, special emphasis has been placed on the impact of age at the onset of consumption on cognition in these patients.349 patients with a first episode of non-affective psychosis were studied. Patients were classified as cannabis users and non-users. Users were divided, according to their age when they began using cannabis, into: early-onset (age  16) and late-onset (age ≥ 16) users. Differences between groups at baseline were studied based on sociodemographic, clinical, and cognitive variables. The groups were longitudinally (3-year) compared on cognitive variables.…

AdultMaleMarijuana AbusePsychosismedicine.medical_specialty030508 substance abuseYoung Adult03 medical and health sciencesCognition0302 clinical medicineMemoryHumansMedicineLongitudinal StudiesAge of OnsetPsychiatryBiological PsychiatryEffects of cannabisFirst episodebiologybusiness.industryCognitionbiology.organism_classificationmedicine.diseasePsychiatry and Mental healthCross-Sectional StudiesPsychotic DisordersDisease ProgressionSpeech PerceptionFemaleMarijuana UseCannabisVerbal memoryAge of onset0305 other medical sciencebusinessNeurocognitive030217 neurology & neurosurgeryFollow-Up StudiesSchizophrenia Research
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A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7

2016

Background The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a preliminary longitudinal characterisation of the clinical and cognitive profiles in patients with SCA1, SCA2, SCA3, SCA6 and SCA7, with the aim of elucidating the role of the cerebellum in cognition. Methods 13 patients with different SCAs all caused by CAG repeat expansion (SCA1, n = 2; SCA2, n = 2; SCA3, n = 2; SCA6, n = 4; and SCA7, n = 3) completed a comprehensive battery of cognitive and mood assessments at two time points, a mea…

AdultMaleMedicine(all)Settore M-PSI/02 - Psicobiologia E Psicologia FisiologicaResearchNeuroimagingMiddle AgedCognitionNeuropsychologyDisease ProgressionHumansSpinocerebellar AtaxiasFemaleAtaxiaGenetics(clinical)Pharmacology (medical)Longitudinal StudiesSpinocerebellar ataxiaAgedAtaxia; Cognition; Spinocerebellar ataxiaOrphanet Journal of Rare Diseases
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Uncoupling protein-2 (UCP2) induces mitochondrial proton leak and increases susceptibility of non-alcoholic steatohepatitis (NASH) liver to ischaemia…

2008

Background: The mechanisms of progression from fatty liver to steatohepatitis and cirrhosis are not well elucidated. Mitochondrial dysfunction represents a key factor in the progression of non-alcoholic steatohepatitis (NASH) as mitochondria are the main cellular site of fatty acid oxidation, ATP synthesis and reactive oxygen species (ROS) production. Aims: (1) To evaluate the role of the uncoupling protein 2 in controlling mitochondrial proton leak and ROS production in NASH rats and humans; and (2) to assess the acute liver damage induced by ischaemia–reperfusion in rats with NASH. Methods: Mitochondria were extracted from the livers of NASH humans and rats fed a methionine and choline de…

AdultMaleMitochondrial ROSmedicine.medical_specialtyMitochondria LiverMitochondrionBiologymedicine.disease_causeIon ChannelsMitochondrial ProteinsAdenosine TriphosphateInternal medicinemedicineAnimalsHumansUncoupling proteinUncoupling Protein 2Rats WistarBeta oxidationAdenosine TriphosphatasesMembrane Potential MitochondrialAldehydesFatty liverGastroenterologyMiddle Agedmedicine.diseaseRatsFatty LiverOxidative StressEndocrinologyMitochondrial respiratory chainLiverBiochemistryReperfusion InjuryAcute DiseaseDisease ProgressionFemaleSteatohepatitisReactive Oxygen SpeciesOxidative stressGut
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A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

2003

Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. The disease relentlessly progressed resulting in severe incapacity within 5 years after onset. We have now identified three other patients with early onset rapidly progressive cardiac and skeletal myopathy caused by this same desmin R406W mutation. The mutation was present in each studied patient, but not in their parents or other unaffected family member…

AdultMaleModels Molecularmedicine.medical_specialtyPathologyNeurologyHeart diseaseAdolescentAmino Acid MotifsCardiomyopathymacromolecular substancesDiseaseBiologyProtein Structure SecondaryDesmin03 medical and health sciences0302 clinical medicineMuscular DiseasesmedicineHumansMuscular dystrophyMyopathyMuscle SkeletalConserved Sequence030304 developmental biology0303 health sciencesMuscle WeaknessBase SequenceMyocardiumMuscle weaknessAnatomymedicine.diseasePedigreeEuropeHeart BlockNeurologyAmino Acid SubstitutionMutationDisease ProgressionDesminFemaleNeurology (clinical)medicine.symptomCardiomyopathies030217 neurology & neurosurgeryJournal of neurology
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Gemcitabine plus metronomic 5-fluorouracil or capecitabine as a second-/third-line chemotherapy in advanced adrenocortical carcinoma: a multicenter p…

2010

Adrenocortical carcinoma (ACC) is a rare neoplasm characterized by poor prognosis. First-line systemic treatments in advanced disease include mitotane, either alone or in combination with chemotherapy. Studies evaluating second-line therapy options have obtained disappointing results. This trial assessed the activity and toxicity of gemcitabine plus metronomic fluoropyrimidines in heavily pretreated advanced ACC patients. From 1998 to 2008, 28 patients with advanced ACC progressing after mitotane plus one or two systemic chemotherapy lines were enrolled. They received a combination of i.v. gemcitabine (800 mg/m2, on days 1 and 8, every 21 days) and i.v. 5-fluorouracil protracted infusion (2…

AdultMaleMucositisOncologyAntimetabolites AntineoplasticCancer Researchmedicine.medical_specialtyAdrenocortical carcinomaSettore MED/06 - Oncologia MedicaEndocrinology Diabetes and Metabolismmedicine.medical_treatmentPhases of clinical researchDeoxycytidineGastroenterologyDrug Administration ScheduleCapecitabineEndocrinologyInternal medicineAntineoplastic Combined Chemotherapy ProtocolsmedicineMucositisHumansMitotaneCapecitabineAgedChemotherapybusiness.industryLeukopeniaMiddle Agedmedicine.diseaseThrombocytopeniaGemcitabineAdrenal Cortex NeoplasmsGemcitabineRegimenTreatment OutcomeOncologyFluorouracilDisease ProgressionFemaleFluorouracilbusinessmedicine.drug
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