Search results for "Disease cause"

showing 3 items of 3 documents

Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study.

2005

Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance was 14.5% (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8-7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited number…

MaleQuestionnairesMultiple SclerosisConcordancePopulationTwinsDizygotic twinsDisease causeMultiple Sclerosis Epidemiology TwinsCohort StudiesCohort Studies Disease Susceptibility Female Genetic Predisposition to Disease Humans Italy; epidemiology Male Multiple Sclerosis; epidemiology/genetics Questionnaires Regression Analysis TwinsSurveys and QuestionnairesmedicineHumansGenetic Predisposition to Diseaseeducationeducation.field_of_studyepidemiology/geneticsbusiness.industryMultiple sclerosismedicine.diseasePenetranceTwin studyConfidence intervalNeurologyItalyRegression AnalysisSettore MED/26 - NeurologiaFemaleepidemiologyNeurology (clinical)Disease SusceptibilitybusinessDemography
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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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The impact of the gut microbiome in Alzheimer's disease

2020

Abstract Alzheimer's disease is a devastating neurodegenerative disease clearly characterized by loss of synapses, changes in metabolism, and neuronal death in brain tissue. The impact of nutrition and other lifestyle factors on pathomechanisms has been extensively investigated in recent decades. However, one main issue has been out of focus during these research efforts—the human body is not a single entity but provides an ecological niche for a huge number of other organisms, its microbial flora. These microorganisms outnumber the host's genetic pool indisputably. While the human encodes for 30,000 genes, the microbiome of the gastrointestinal tract inherits a multitude of commensal micro…

Gastrointestinal tractmedicine.anatomical_structureFlora (microbiology)Central nervous systemmedicineDementiaMicrobiomeDiseaseBiologymedicine.diseaseNeuroscienceDisease causeGut microbiome
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