Search results for "Thiamine Deficiency"

showing 5 items of 5 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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Non-alcoholic Wernicke's encephalopathy: From MRI findings of a case to differential diagnosis checklist

2018

Wernicke's encephalopathy is a serious neurological disorder secondary to thiamine deficiency in alcoholics. However, rarely it affects non-alcoholics. Here we present a case of Wernicke's encephalopathy in a non-alcoholic 56-year-old female, treated by endoscopic surgery for a duodenal ulcer two years before. She came to our attention for a sudden onset of a neurological syndrome characterized by visual deficits, diplopia, confusion, spatial disorientation and loss of short-term memory. An MRI scan showed the typical MRI findings of Wernicke's encephalopathy, which are discussed together with the possible differential diagnosis.

medicine.medical_specialtyDiffusion-weighted magnetic resonance imagingWernicke Encephalopathymedicine.diagnostic_testWernicke encephalopathybusiness.industryMetabolic brain diseaseMedicine (all)Magnetic resonance imagingNon alcoholicGeneral Medicinemedicine.diseaseDiffusion-Weighted Magnetic Resonance ImagingChecklistWernicke's encephalopathyMagnetic resonance imagingThiamine deficiencymedicineRadiologyDifferential diagnosisbusinessMri findings
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Lipid-related thiamine deficiency cause mortality of river lampreys (Lampetra fluviatilis) during pre-spawning fasting

2023

Publisher Copyright: © 2023 The Authors River lampreys (Lampetra fluviatilis) were caught in the fall 2014 on entering the River Perhonjoki for spawning and kept at a hatchery until spawning in late spring 2015 to produce larvae for compensatory stockings. Since the lampreys died massively from early February onwards, they were investigated in March and May to clarify the cause of the deaths. The symptoms in lampreys resembled those of lipid-related thiamine (vitamin B1) deficiency of salmonines, called the M74 syndrome in the Baltic Sea area. Because the lipid content of lampreys was known to be high, thiamine concentrations were analyzed in the liver and ovulated unfertilized eggs, and th…

vitamin B1vaelluskalatthiamine deficiencyEcologyBody lipidnahkiainen1184 Genetics developmental biology physiologylipiditAquatic SciencepuutostilatLampetra fluviatiliskuolemansyytM74 syndromebody lipidpre-spawning fastingThiamine deficiencylamprey Lampetra fluviatilisAnimal Science and ZoologytiamiiniLamprey Lampetra fluviatilisPre-spawning fastingEcology Evolution Behavior and SystematicsVitamin B1
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DYSMICROBISM, INFLAMMATORY BOWEL DISEASE AND THYROIDITIS: ANALYSIS OF THE LITERATURE

2015

The human body is colonized by a large number of microbes that are collectively referred to as the microbiota. They interact with the hosting organism and some do contribute to the physiological maintenance of the general good health thru regulation of some metabolic processes while some others are essential for the synthesis of vitamins and short-chain fatty acids. The abnormal variation, in the quality and/or quantity of individual bacterial species residing in the gastro-intestinal tract, is called “dysmicrobism”. The immune system of the host will respond to these changes at the intestinal mucosa level which could lead to Inflammatory Bowel Diseases (IBD). This inflammatory immune respo…

Settore MED/12 - GastroenterologiaSettore MED/09 - Medicina InternaLymphoid TissueMicrobiotaProbioticsMolecular MimicryThyroiditis AutoimmuneThiamine DeficiencyInflammatory Bowel DiseasesGastrointestinal TractMiceSettore MED/18 - Chirurgia GeneraleBacterial TranslocationFermentationAutoimmune Thyroiditis Inflammatory Bowel Diseases dysmicrobisAnimalsGerm-Free LifeHumansIntestinal MucosaSymbiosis
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Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient.

2017

Thiamine (vitamin B1) deficiency is a common condition in alcohol abusers, which can lead to damage of both the peripheral and the central nervous systems. Here we describe the case of an alcoholic patient who presented with acute onset of ataxia, severe weakness of the four limbs, and hypoesthesia and dysesthesia of the distal portion of the upper and lower extremities. The clinical picture also included mental confusion and amnesia. A diagnosis of Wernicke-Korsakoff syndrome was made based on clinical symptoms and brain RMI findings. Electromyography and electroneurography revealed signs of subacute axonal sensory-motor polyneuropathy that were compatible with a rare acute presentation of…

0301 basic medicineMalemedicine.medical_specialtyPediatricsAtaxiaBeriberiWernicke's encephalopathyAlcoholic NeuropathyBeriberi03 medical and health sciences0302 clinical medicinemedicineHumansKorsakoff's syndromeWernicke's encephalopathy030109 nutrition & dieteticsWernicke–Korsakoff syndromeDysesthesiabusiness.industryfood and beveragesGeneral MedicineMiddle Agedmedicine.diseaseSurgeryAlcoholismKorsakoff SyndromeThiamine deficiencyVitamin B ComplexThiamineSurgeryNeurology (clinical)medicine.symptombusinessKorsakoff's syndromePolyneuropathy030217 neurology & neurosurgeryVitamin B1Clinical neurology and neurosurgery
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