Search results for "deficiency"

showing 10 items of 1071 documents

Erythrocyte deformability in macrocytosis determined by means of ektacytometry techniques

2010

There is little information regarding the behaviour of red blood cell deformability in macrocytosis. We have determined in 114 patients with macrocytosis (MCV > 97 fL) and in 115 age and sex-matched subjects with normocytosis (VCM < 97 fL) erythrocyte deformability by means of ektacytometric techniques (Rheodyn SSD) measuring the erythrocyte elongation index (EEI) at 12, 30 and 60 Pa. Patients with macrocytosis showed statistically higher EEI at all the shear stresses tested when compared with controls (p < 0.001). When patients with macrocytosis were classified according to their main diagnosis as hepatic or renal disease, HIV and miscellaneous, 66.7%, 41.7%, 36.7% and 33.3% of patients, r…

AdultMalemedicine.medical_specialtyPhysiologyBilirubinAnemiaHuman immunodeficiency virus (HIV)NormocytosisMacrocytosismedicine.disease_causeGastroenterologychemistry.chemical_compoundErythrocyte DeformabilityPhysiology (medical)Internal medicinemedicineHumansErythrocyte deformabilityAnemia MacrocyticAlanine aminotransferaseAgedbusiness.industryHematologyMiddle Agedmedicine.diseaseRed blood cellmedicine.anatomical_structurechemistryImmunologyFemaleStress MechanicalCardiology and Cardiovascular MedicinebusinessClinical Hemorheology and Microcirculation
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Oral high-dose sucrosomial iron vs intravenous iron in sideropenic anemia patients intolerant/refractory to iron sulfate: a multicentric randomized s…

2020

AbstractIron deficiency anemia is among the most frequent causes of disability. Intravenous iron is the quickest way to correct iron deficiency, bypassing the bottleneck of iron intestinal absorption, the only true mechanism of iron balance regulation in human body. Intravenous iron administration is suggested in patients who are refractory/intolerant to oral iron sulfate. However, the intravenous way of iron administration requires several precautions; as the in-hospital administration requires a resuscitation service, as imposed in Europe by the European Medicine Agency, it is very expensive and negatively affects patient’s perceived quality of life. A new oral iron formulation, Sucrosomi…

AdultMalemedicine.medical_specialtyResuscitationIntravenous sodium ferrigluconateAnemiaCost-Benefit AnalysisHigh dosesAdministration OralHigh dose030204 cardiovascular system & hematologyGastroenterologyFerric CompoundsIntestinal absorption03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRefractoryInternal medicineOral Sucrosomial ironMedicineHumans030212 general & internal medicineFerrous CompoundsProspective StudiesAgedAged 80 and overHematologyAnemia Iron-Deficiencybusiness.industryHematologyGeneral MedicineIron deficiencyMiddle Agedmedicine.diseaseIron sulfatechemistryIron-deficiency anemiaIron deficiency anemiaHematinicsAdministration IntravenousFemaleOriginal ArticleRefractoriness/intolerance to oral iron sulfatebusiness
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Retinal vascular occlusion and deficiencies in the protein C pathway.

1999

Abstract PURPOSE: To report abnormalities in the protein C pathway and other vascular occlusion risk factors in patients with retinal vascular occlusion. METHODS: In a study, we investigated 76 consecutive patients who had in-patient evaluation of venous or arterial retinal vascular occlusion. All patients underwent comprehensive tests for coagulation disorders including determinations of protein C, protein S, lupus anticoagulants, and resistance to activated protein C and were screened for vascular disease risk factors. Resistance to activated protein C was confirmed by a polymerase chain reaction method to detect the specific factor V R506Q mutation. For comparative purposes, we also scre…

AdultMalemedicine.medical_specialtyRetinal Artery OcclusionDeep veinVascular occlusionGastroenterologyProtein SProtein SCentral retinal vein occlusionRisk FactorsInternal medicineRetinal Vein OcclusionmedicinePrevalenceHumansProspective StudiesActivated Protein C ResistanceAgedRetinal Vascular OcclusionAged 80 and overbiologybusiness.industryFactor VFactor VProtein C DeficiencyMiddle Agedmedicine.diseaseThrombosisSurgeryOphthalmologymedicine.anatomical_structureLupus Coagulation InhibitorMutationbiology.proteinBranch retinal vein occlusionFemalemedicine.symptombusinessProtein CAmerican journal of ophthalmology
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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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Gender differences in human immunodeficiency virus–related oral lesions: An Italian study

2001

Abstract Objective: The purpose of this study was to investigate the relationship between oral lesions and gender, age, CD4+ cell count, human immunodeficiency virus-1 (HIV-1) viral load, antiretroviral therapy, and route of transmission in a group of HIV-infected (HIV+) persons from the Mediterranean region. Study Design: The participants in this study were HIV+ adults who sought dental care between January 1999 and June 1999 in the Department of Oral Medicine (University of Palermo, Italy). Results: One hundred thirty-six HIV+ adults came in for an initial oral examination. Their mean age was 35.2 years (SD ± 7.97), and 33% were women. Their mean CD4+ cell count was 325.3 × 106 /L (SD ± 2…

AdultMalemedicine.medical_specialtyStatistics as TopicHIV InfectionsAntiviral AgentsStatistics NonparametricSex FactorsAcquired immunodeficiency syndrome (AIDS)Candidiasis OralInternal medicineImmunopathologyOral and maxillofacial pathologyEpidemiologyPrevalenceHumansMedicineSidaSicilyGeneral DentistryAnalysis of VarianceChi-Square DistributionAIDS-Related Opportunistic Infectionsbiologybusiness.industryAge FactorsViral Loadmedicine.diseasebiology.organism_classificationCD4 Lymphocyte Countstomatognathic diseasesItalyOtorhinolaryngologyImmunologyHIV-1FemaleSurgeryViral diseaseOral SurgeryMouth DiseasesbusinessViral loadOral medicineOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology
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Atherogenic lipoprotein phenotype and low-density lipoprotein size and subclasses in patients with growth hormone deficiency before and after short-t…

2007

Objective: Patients with growth hormone deficiency (GHD) have increased cardiovascular risk and may show elevated triglyceride and reduced high density lipoprotein (HDL) cholesterol concentrations, two lipid abnormalities usually accompanied by increased small dense LDL in the ‘atherogenic lipoprotein phenotype’ (ALP). In the present study, we directly investigated (1) whether hypopituitary patients with GHD have increased small dense LDL; (2) whether growth hormone replacement therapy (GHRT) beneficially impact on such particles; (3) the prevalence of ALP in GHD and GHRT patients. Design and methods: In 14 hypopituitary patients with GHD (44 ± 13 years, body mass index (BMI) 27 ± 3) before…

AdultMalemedicine.medical_specialtyTime FactorsArteriosclerosisHormone Replacement TherapyEndocrinology Diabetes and MetabolismBiologyHypopituitarismGrowth hormone deficiencychemistry.chemical_compoundEndocrinologyInternal medicinemedicineHumansIn patientInsulin-Like Growth Factor ITriglyceridesTriglycerideHuman Growth HormoneCholesterolVascular diseaseCholesterol HDLGeneral MedicineMiddle AgedAtherogenic lipoprotein phenotypemedicine.diseaseLipoproteins LDLCholesterolTreatment OutcomeEndocrinologyAtheromachemistryLow-density lipoproteinElectrophoresis Polyacrylamide GelFemalelipids (amino acids peptides and proteins)European Journal of Endocrinology
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Effect of long-term treatment with GH on bone metabolism, bone mineral density and bone elasticity in GH-deficient adults

1998

OBJECTIVE Adults with GH deficiency (GHD) commonly have subnormal bone mineral density (BMD), and have been reported to have an increased risk of fractures. It has been suggested that GH replacement therapy may have beneficial effects on bone in such patients. The aim of this study was to investigate the effects of long-term GH replacement therapy on bone metabolism, BMD and bone elasticity in adults with GHD. DESIGN At the start of the study, 20 adults with GHD were randomized to receive either GH, 0.25 IU/kg/week (the ‘GH group’) or placebo (the ‘placebo group’). After 6 months, patients in the placebo group were switched to GH therapy, and all patients received GH for a further 42 months…

AdultMalemedicine.medical_specialtyTime FactorsEndocrinology Diabetes and MetabolismPlaceboBone and BonesCollagen Type IBone resorptionBone remodelingGrowth hormone deficiencylaw.inventionAbsorptiometry PhotonEndocrinologyN-terminal telopeptideForearmRandomized controlled trialBone DensitylawInternal medicineHumansMedicineBone mineralbusiness.industryMiddle Agedmedicine.diseaseElasticityPeptide Fragmentsmedicine.anatomical_structureEndocrinologyGrowth HormoneFemaleCollagenPeptidesbusinessBiomarkersProcollagenClinical Endocrinology
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[Inferior vena cava malformations and deep venous thrombosis].

2006

We carried out a prospective study of 116 patients under 50 years of age who had deep venous thrombosis of the lower extremities to determine whether the presence of congenital anomaly of the inferior vena cava (IVC) was a risk factor for the disease. All patients were investigated by Doppler echography. Some 37 patients who had iliac vein occlusion also underwent phlebography. In 10 patients in whom the IVC was difficult to image, magnetic resonance angiography or computerized axial tomography was carried out. In all patients, studies of antithrombin, protein C and protein S deficiency, factor V Leiden, prothrombin G20210A, antiphospholipid antibodies, and acquired risk factors were also p…

AdultMalemedicine.medical_specialtyTime FactorsPopliteal VeinFemoral veinVena Cava InferiorIliac VeinInferior vena cavaRecurrenceRisk FactorsmedicineFactor V LeidenConfidence IntervalsHumansProtein S deficiencyProspective StudiesVenous ThrombosisLegbusiness.industryAnticoagulantsUltrasonography DopplerGeneral MedicinePhlebographyFemoral VeinMiddle Agedmedicine.diseaseThrombosisVein occlusionSurgeryVenous thrombosisTreatment Outcomemedicine.veincardiovascular systemProthrombin G20210AFemaleRadiologybusinessTomography X-Ray ComputedMagnetic Resonance AngiographyFollow-Up StudiesRevista espanola de cardiologia
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Incidence, risk factors, and outcome of pulmonary invasive fungal disease after respiratory virus infection in allogeneic hematopoietic stem cell tra…

2019

Abstract Background There is growing evidence that community‐acquired respiratory virus (CARV) increases the risk of pulmonary invasive fungal disease (IFD) in the allogeneic hematopoietic stem cell transplantation (allo‐HSCT) setting. To date, there is a lack of knowledge regarding the risk factors (RFs), as well as the most critical period for subsequent onset of IFD after CARV infections in allo‐HSCT recipients. Methods In this prospective longitudinal observational CARV survey, we analyzed the effect of CARV on subsequent IFD development in 287 adult allo‐HSCT recipients diagnosed with 597 CARV episodes from December 2013 to December 2018. Multiplex PCR panel assays were used to test CA…

AdultMalemedicine.medical_specialtyTransplantation ConditioningAdolescentmedicine.medical_treatmentHematopoietic stem cell transplantation030230 surgeryYoung Adult03 medical and health sciences0302 clinical medicineRisk FactorsRespiratory virus infectionSurveys and QuestionnairesInternal medicinemedicineHumansTransplantation HomologousLongitudinal StudiesProspective Studiesallogeneic hematopoietic stem cell transplantationRespiratory systemRespiratory Tract InfectionsAgedcommunity-acquired respiratory virusTransplantationcommunity‐acquired respiratory virusbusiness.industryIncidenceIncidence (epidemiology)Hematopoietic Stem Cell TransplantationOriginal Articlesinvasive pulmonary fungal diseaseOdds ratioMiddle AgedTransplant Recipientsinvasive AspergillosisConfidence intervalCommunity-Acquired InfectionsInfectious DiseasesInvasive fungal diseaseRespiratory virusFemaleOriginal Article030211 gastroenterology & hepatologybusinessInvasive Fungal Infectionsimmunodeficiency score indexTransplant Infectious Disease
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Focused ultrasound to diagnose HIV-associated tuberculosis (FASH) in the extremely resource-limited setting of South Sudan: a cross-sectional study

2019

ObjectiveOur cross-sectional study aimed at evaluating the diagnostic performance of Focused Assessment with Sonography for HIV-associated tuberculosis (FASH) to detect extrapulmonary tuberculosis in extremely resource-limited settings, with visceral leishmaniasis as a differential diagnosis with overlapping sonographic feature.DesignCross-sectional study.SettingVoluntary Counselling and Testing Centre (VCT) of Yirol Hospital, South Sudan.ParticipantsFrom May to November 2017, 252 HIV-positive patients out of 624 newly admitted to VCT Centre were registered for antiretroviral treatment. According to the number of trained doctors available to practise ultrasound (US) scan, a sample of 100 pa…

AdultMalemedicine.medical_specialtyTuberculosisAdolescentCross-sectional studyPoint-of-Care Systemsextra-pulmonary tuberculosisinfectious diseaseHuman immunodeficiency virus (HIV)Physical examinationHIV Infectionsmedicine.disease_causeGlobal Healthinfectious diseasesSettore MED/42 - Igiene Generale E Applicata03 medical and health sciencesYoung Adult0302 clinical medicineInternal medicinemedicineHumansTuberculosisfash030212 general & internal medicine1506PathologicalUltrasonographymedicine.diagnostic_testbusiness.industryultrasoundResearchextra-pulmonary tuberculosi1699General MedicineMiddle Agedmedicine.diseaseCD4 Lymphocyte CountVisceral leishmaniasisCross-Sectional StudiesEffusionFemaleDifferential diagnosissouth sudanbusiness030217 neurology & neurosurgery
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