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Thiamine deficiency

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https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#1
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27857755/can-long-term-thiamine-treatment-improve-the-clinical-outcomes-of-myotonic-dystrophy-type-1
#2
Antonio Costantini, Erika Trevi, Maria Immacolata Pala, Roberto Fancellu
Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells...
September 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27852654/cobalt-cardiomyopathy-a-critical-reappraisal-in-light-of-a-recent-resurgence
#3
Milton Packer
Cobalt can cause a distinctive, rapidly progressive and reversible depression of cardiac systolic function, which is readily distinguished from other causes of cardiomyopathy. Patients present with the subacute onset of severe heart failure, which is accompanied by hypotension and cyanosis, pericardial effusion, low voltage on the electrocardiogram, marked elevation of serum enzymes, and lactic acidosis. They typically have a history of lethargy, anorexia, and weight loss in the months preceding the illness and exhibit other evidence of cobalt's effects on the body (eg, polycythemia and goiter)...
December 2016: Circulation. Heart Failure
https://www.readbyqxmd.com/read/27837349/comparison-of-body-composition-and-nutrients-deficiencies-between-portuguese-rink-hockey-players
#4
Maria-Raquel G Silva, Hugo-Henrique Silva
: We evaluated dietary intake and body composition of child and adolescent rink-hockey players and controls. Seventy-two male rink-hockey players (38 children and 34 adolescents) and 79 male controls (43 children and 36 adolescents) were evaluated in order to collect training data, detailed dietary intake and body composition. Rink-hockey players presented significantly lower body fat (BF) and higher fat-free mass (FFM) than controls. Mean intakes of carbohydrate and protein were considered to be adequate, but mean intakes of fat were above the recommended levels in athletes...
November 12, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27825907/thiamine-and-benfotiamine-improve-cognition-and-ameliorate-gsk-3%C3%AE-associated-stress-induced-behaviours-in-mice
#5
Nataliia Markova, Nataliia Bazhenova, Daniel C Anthony, Julie Vignisse, Andrey Svistunov, Klaus-Peter Lesch, Lucien Bettendorff, Tatyana Strekalova
Thiamine (vitamin B1) deficiency in the brain has been implicated in the development of dementia and symptoms of depression. Indirect evidence suggests that thiamine may contribute to these pathologies by controlling the activities of glycogen synthase kinase (GSK)-3β. While decreased GSK-3β activity appears to impair memory, increased GSK-3β activity is associated with the distressed/depressed state. However, hitherto direct evidence for the effects of thiamine on GSK-3β function has not been reported...
November 4, 2016: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/27818067/-thiamine-vitamin-b1-treatment-in-patients-with-alcohol-dependence
#6
Alain Dervaux, Xavier Laqueille
Thiamine deficiency (vitamin B1) is common in patients with alcohol dependence. Cognitive impairments may be an early consequence of thiamine deficiency. Wernicke's encephalopathy is underdiagnosed and undertreated. In patients with established Wernicke's encephalopathy, parenteral thiamine 200-500mg three times a day should be given for 3-5 days, followed by oral thiamine 250-1000mg/day. In patients with suspected Wernicke's encephalopathy, parenteral thiamine 250-300mg should be given two times a day for 3-5 days, followed by oral thiamine 250-300mg/day...
November 3, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27813489/-beriberi-10-years-after-gastric-bypass-surgery-case-report
#7
Linda O Arnadottir, Svanur Sigurbjornsson, Tomas Gudbjartsson
Beriberi is primarily related to malnutrition, but also known as a complication following abdominal surgical procedures. A 41 year old woman, who underwent gastric bypass surgery 10 years earlier, presented at the emergency department of Landspitali with general weakness and paresthesia. Physical examination revealed muscle atrophy and attenuated deep tendon reflexes in her lower limbs; presenting as polyneuropathy due to beriberi. The diagnosis was confirmed with serum thiamine levels measuring well below reference levels...
November 2016: Læknablađiđ
https://www.readbyqxmd.com/read/27810990/thiamin-pyridoxine-vitamin-d-and-carotene-deficiency-in-a-malnourished-patient-following-billroth-ii-gastrectomy
#8
Mark D Lahey, Amir Y Kamel
We describe the case of a malnourished 48-year-old man who had previously undergone a Billroth II procedure for severe peptic ulcer disease. He was found to have a severely stenotic gastrojejunal anastomosis with inflamed mucosa that prevented him from tolerating solid food. Laboratory assessment revealed deficiencies in thiamin, pyridoxine, vitamin D, and carotene. This case demonstrates potential vital micronutrient complications following a partial gastrectomy.
November 3, 2016: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/27750185/thiamin-biofortification-of-crops
#9
Aymeric Goyer
Thiamin is essential for human health. While plants are the ultimate source of thiamin in most human diets, staple foods like white rice have low thiamin content. Therefore, populations whose diets are mainly based on low-thiamin staple crops suffer from thiamin deficiency. Biofortification of rice grain by engineering the thiamin biosynthesis pathway has recently been attempted, with up to 5-fold increase in thiamin content in unpolished seeds. However, polished seeds that retain only the starchy endosperm had similar thiamin content than that of non-engineered plants...
October 14, 2016: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/27734188/cortical-damage-in-wernicke-s-encephalopathy-with-good-prognosis-a-report-of-two-cases-and-literature-review
#10
Lei Wu, Di Jin, Xuan Sun, Liang Liang, Deihui Huang, Zhao Dong, Shengyuan Yu
Wernicke's encephalopathy (WE) is a thiamine deficiency-related condition, in which lesions are usually present in the periventricular and subcortical areas of the brain. However, lesions have also been found in atypical areas, such as the cerebral cortex. The present study summarizes the clinical outcomes and radiological features of WE with cortical impairment. We report two cases of cortical involvement in patients with WE, and review 22 similar cases from other reports. Among all 24 cases, 4 patients had a confirmed history of chronic daily alcohol abuse, and 19 of them had an identified causes of thiamine deficiency...
October 12, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27721589/wernicke-s-encephalopathy-pushing-the-envelope-of-patient-s-profile-a-case-report
#11
B Jayaprakash, Karthik N Rao, Navin Patil, Dipanjan Bhattacharjee, Mohit Maden, N R Rau
Wernicke's encephalopathy (WE), an acute neuropsychiatric condition, is caused by thiamine deficiency. Traditionally, it has been associated with patients with a background of alcoholism. However, in the past few decades, with increasing trends in the incidence of WE among patients without a history of alcohol consumption, a pressing need was felt to examine the existing guidelines for the management of WE and its sequelae. The need for a revision was felt as the guidelines for the management of WE were developed around the premise that this affliction is observed mainly among alcoholics...
September 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27702844/the-thiamine-biosynthesis-gene-thi1-promotes-nodule-growth-and-seed-maturation
#12
Miwa Nagae, Martin Parniske, Masayoshi Kawaguchi, Naoya Takeda
Thiamine (vitamin B1) is essential for living organisms. Unlike animals, plants can synthesize thiamine. In Lotus japonicus, the expression of two thiamine biosynthesis genes, THI1 and THIC, was enhanced by inoculation with rhizobia but not by inoculation with arbuscular mycorrhizal fungi. THIC and THI2 (a THI1 paralog) were expressed in uninoculated leaves. THI2-knockdown plants and the transposon insertion mutant thiC had chlorotic leaves. This typical phenotype of thiamine deficiency was rescued by an exogenous supply of thiamine...
November 2016: Plant Physiology
https://www.readbyqxmd.com/read/27693006/progressive-encephalopathy-associated-with-nutritional-deficiencies-identifying-patients-at-high-risk-for-developing-thiamine-deficiency
#13
M D Freire-Aragón, E Fernández Delgado, J Carbajal-Guerrero, G Ribera-Rubiales
No abstract text is available yet for this article.
September 28, 2016: Medicina Intensiva
https://www.readbyqxmd.com/read/27677881/arabidopsis-th2-encodes-the-orphan-enzyme-thiamin-monophosphate-phosphatase
#14
Manaki Mimura, Rémi Zallot, Thomas Daniel Niehaus, Ghulam Hasnain, Satinder K Gidda, Thuy Nd Nguyen, Erin M Anderson, Robert T Mullen, Greg Brown, Alexander F Yakunin, Valerié de Crécy-Lagard, Jesse F Gregory, Donald R McCarty, Andrew D Hanson
To synthesize the cofactor thiamin diphosphate (ThDP), plants must first hydrolyze thiamin monophosphate (ThMP) to thiamin, but dedicated enzymes for this hydrolysis step were unknown and widely doubted to exist. The classical thiamin-requiring th2-1 mutation in Arabidopsis was shown to reduce ThDP levels by half and to increase ThMP levels five-fold, implying that the THIAMIN REQUIRING 2 (TH2) gene product could be a dedicated ThMP phosphatase. Genomic and transcriptomic data indicated that TH2 corresponds to At5g32470, encoding a HAD (haloacid dehalogenase) family phosphatase fused to a TenA (thiamin salvage) family protein...
September 27, 2016: Plant Cell
https://www.readbyqxmd.com/read/27603112/binding-of-pollutants-to-biomolecules-a-simulation-study
#15
Ahmet Yildirim, Jin Zhang, Sergio Manzetti, David van der Spoel
A number of cases around the world have been reported where animals were found dead or dying with symptoms resembling a thiamine (vitamin B) deficiency, and for some of these, a link to pollutants has been suggested. Here, we investigate whether biomolecules involved in thiamin binding and transport could be blocked by a range of different pollutants. We used in silico docking of five compound classes (25 compounds in total) to each of five targets (prion protein, ECF-type ABC transporter, thi-box riboswitch receptor, thiamin pyrophosphokinase, and YKoF protein) and subsequently performed molecular dynamics (MD) simulations to assess the stability of the complexes...
October 17, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27596507/thiamine-deficiency-and-neurodegeneration-the-interplay-among-oxidative-stress-endoplasmic-reticulum-stress-and-autophagy
#16
Dexiang Liu, Zunji Ke, Jia Luo
Thiamine (vitamin B1) is an essential nutrient and indispensable for normal growth and development of the organism due to its multilateral participation in key biochemical and physiological processes. Humans must obtain thiamine from their diet since it is synthesized only in bacteria, fungi, and plants. Thiamine deficiency (TD) can result from inadequate intake, increased requirement, excessive deletion, and chronic alcohol consumption. TD affects multiple organ systems, including the cardiovascular, muscular, gastrointestinal, and central and peripheral nervous systems...
September 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27576603/vitamin-b1-deficient-mice-show-impairment-of-hippocampus-dependent-memory-formation-and-loss-of-hippocampal-neurons-and-dendritic-spines-potential-microendophenotypes-of-wernicke-korsakoff-syndrome
#17
Hiroyoshi Inaba, Takuya Kishimoto, Satoru Oishi, Kan Nagata, Shunsuke Hasegawa, Tamae Watanabe, Satoshi Kida
Patients with severe Wernicke-Korsakoff syndrome (WKS) associated with vitamin B1 (thiamine) deficiency (TD) show enduring impairment of memory formation. The mechanisms of memory impairment induced by TD remain unknown. Here, we show that hippocampal degeneration is a potential microendophenotype (an endophenotype of brain disease at the cellular and synaptic levels) of WKS in pyrithiamine-induced thiamine deficiency (PTD) mice, a rodent model of WKS. PTD mice show deficits in the hippocampus-dependent memory formation, although they show normal hippocampus-independent memory...
December 2016: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/27570189/selective-accumulation-of-biotin-in-arterial-chemoreceptors-requirement-for-carotid-body-exocytotic-dopamine-secretion
#18
Patricia Ortega-Sáenz, David Macías, Konstantin L Levitsky, José A Rodríguez-Gómez, Patricia González-Rodríguez, Victoria Bonilla-Henao, Ignacio Arias-Mayenco, José López-Barneo
KEY POINTS: Biotin, a vitamin whose main role is as a coenzyme for carboxylases, accumulates at unusually large amounts within cells of the carotid body (CB). In biotin-deficient rats biotin rapidly disappears from the blood; however, it remains at relatively high levels in CB glomus cells. The CB contains high levels of mRNA for SLC5a6, a biotin transporter, and SLC19a3, a thiamine transporter regulated by biotin. Animals with biotin deficiency exhibit pronounced metabolic lactic acidosis...
August 28, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27548214/assessment-of-the-dietary-intake-of-schoolchildren-in-south-africa-15-years-after-the-first-national-study
#19
REVIEW
Nelia Steyn, Gabriel Eksteen, Marjanne Senekal
There has not been a national dietary study in children in South Africa since 1999. Fortification of flour and maize meal became mandatory in October 2003 to address micronutrient deficiencies found in the national study in 1999. The purpose of this review was to identify studies done after 1999 in schoolchildren, 6-15 years old, in order to determine whether dietary intakes reflected improvements in micronutrients, namely: iron, zinc, vitamin A, folate, thiamine, riboflavin, vitamin B6, and niacin. An electronic and hand search was done to identify all studies complying with relevant inclusion criteria...
2016: Nutrients
https://www.readbyqxmd.com/read/27544473/amenable-treatable-severe-pediatric-epilepsies
#20
Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
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