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The relationship polymorphism of gene RFC1 A80G and NSCLP in Sumatera Utara, Indonesia
Published in Cut Adeya Adella, Stem Cell Oncology, 2018
B.Y. Febrianto, U.A. Tarigan, F.B. Buchari, Hidayat
Folate undergoes a metabolism consisting of absorption, modification, transport, and interconversion. One of the proteins that plays an important role in the process of folate metabolism is the Reduced Folate Carrier 1 (RFC1) protein that plays a two-way transport of 5-methyltetrahydrololate and thiamine monophosphate into intracellular and red blood cells and maintains folate homeostasis in the event of down-regulation in folate deficiency. The RFC1 protein is coded by the RFC1 gene mapped at the end of the long arm of chromosome 21 (21q22.2-q22.3) (Yee et al., 2010).
Nutrient Requirements during Lactation
Published in Crystal D. Karakochuk, Kyly C. Whitfield, Tim J. Green, Klaus Kraemer, The Biology of the First 1,000 Days, 2017
The two forms of thiamin present in breast milk are thiamin and thiamin monophosphate (approximate ratio 30:70). The risk of thiamin depletion is increased where diets are high in refined or polished unfortified grains, and low in animal source foods and legumes. Thiamin deficiency (beriberi) is uncommon in high-income countries, where deficiency is more often associated with chronic alcoholism, HIV/AIDS, or gastrointestinal conditions that impair vitamin absorption [45]. Infantile thiamin deficiency occurs mainly in infants who are breastfed by mothers with an inadequate intake of thiamin. There is evidence that infantile thiamin deficiency persists in parts of Southeast Asia, such as Laos, Cambodia, and Burma, where it may be a major cause of infant mortality [46]. Trials have shown that thiamin fortification of food consumed through pregnancy and early lactation improves breast milk thiamin concentrations, and has the potential to prevent infantile beriberi [47]. In 2003, several hundred Israeli infants were put at risk of thiamin deficiency after being fed a soy-based formula that was deficient in thiamin [48]. Approximately 20 infants were seriously affected, and 3 of them died. The long-term consequences of early thiamin deficiency included intellectual disability, motor abnormalities, severe epilepsy, and early kyphoscoliosis [49]. Some of the children with intellectual disability had been considered “asymptomatic,” with no abnormal neurological symptoms during the thiamin deficiency period, suggesting that thiamin deficiency may exert its effects on the brain development of children without being detected [50].
Water-soluble vitamin insufficiency, deficiency and supplementation in children and adolescents with a psychiatric disorder: a systematic review and meta-analysis
Published in Nutritional Neuroscience, 2023
Nuria Prades, Eva Varela, Itziar Flamarique, Ramon Deulofeu, Inmaculada Baeza
Regarding other B vitamins, one study found vitamin B8 to be 20% lower in ASD vs. HC [58]. This study analyzed other B vitamins apart from folate and vitamin B12 (B1, B2, B3, B5 and B6) and reported only possibly significant lower mean levels in vitamin B5 in ASD patients compared to HC, after multiple-comparison corrections. However, Anwar et al. studying vitamin B1 observed that thiamine pyrophosphate was lower in the ASD group compared to HC, while thiamine and thiamine monophosphate were not [62]. Mean vitamin B2 or riboflavin levels have been found to be higher in ASD patients and their siblings vs. HC, but this difference disappeared after adjustment for multiple comparisons [29]. Looking at vitamin B6, its inactive form, but not its active form, was found to be higher in ASD patients than in HC [60], although other authors measuring this vitamin have described lower levels in ASD subjects compared to HC [30], or no differences between groups [45].
Thiamine and phosphate esters concentrations in whole blood and serum of patients with alcohol use disorder: a relation with cognitive deficits
Published in Nutritional Neuroscience, 2021
Laurent Coulbault, Ludivine Ritz, François Vabret, Coralie Lannuzel, Céline Boudehent, Marie Nowoczyn, Hélène Beaunieux, Anne Lise Pitel
However, TD is not systematically found in AUD patients without neurological complication. In a study by Tallaksen et al., differences were observed between controls and AUD patients for thiamine (Th) and thiamine monophosphate (TMP) concentrations in whole blood and serum, but not for TDP [12]. The authors showed also that thiamine was not fully phosphorylated after supplementation. In addition, a recent study did not find any TD in a population of AUD patients with cognitive deficits, probably related to an efficient thiamine supplementation in these patients reflecting good clinical practice [13]. In another study conducted in AUD patients with Korsakoff’s syndrome, thiamine metabolism was dramatically impaired after supplementation, suggesting a link between alterations of thiamine metabolism and the severity of the cognitive deficits [14]. Another study also suggested a potential interest for the exploration of altered thiamine metabolism (using percentage of thiamine phosphate esters in WB) in alcohol-related cognitive deficits and more particularly in episodic memory impairments well before the development of Korsakoff’s syndrome [15].
The role of artificial intelligence in hypertensive disorders of pregnancy: towards personalized healthcare
Published in Expert Review of Cardiovascular Therapy, 2023
Mohanad Alkhodari, Zhaohan Xiong, Ahsan H. Khandoker, Leontios J. Hadjileontiadis, Paul Leeson, Winok Lapidaire
In the area of metabolomics, a case-control study [111] was conducted to discover HDP in 203 pregnant women (65.5% hypertensive) enrolled at the Guwahati Medical College and Hospital, Assam, India, using metabolomics and machine learning. Statistical analysis of the 791 metabolomic features revealed 20 metabolic pathways, where purine and thiamine metabolism being highly altered in hypertensive pregnancies, with 44 significantly different metabolites (7 up-regulated: 7, down-regulated: 37). The highest performance in predictions was observed using XGBoost and decision trees with accuracy levels of 95% and 98%, respectively. Both models revealed that adenosine monophosphate had the highest predictive performance relative to other metabolites, with a combined accuracy of 98.6%. Overall, the major metabolites in characterizing HDP were adenosine, thiamine monophosphate, and thiamine. Moreover, using multiomics, a prospective study [112] investigated the use of machine learning for the early prediction of preeclampsia in 49 pregnant women (59% preeclamptic) enrolled at Lucile Packard Children’s Hospital at Stanford University, California. The authors analyzed six -omics datasets, including metabolomics, by fitting a regularized machine learning model, the Elastic Net (EN), for each. Highest levels of performance in predicting preeclampsia were achieved in the metabolome-urine and proteome models with an AUC of 0.88 and 0.87, respectively. A boosted performance (AUC: 0.91) was achieved when integrating all models as a single multiomics model using stacked regression due to forming biological pathways such as tryptophan, caffeine, and arachidonic acid metabolisms. In addition, the authors identified novel associations between immune and proteomic dynamics in the integrated model.