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1.
Molecules ; 29(9)2024 May 01.
Article in English | MEDLINE | ID: mdl-38731585

ABSTRACT

The techniques used to detect and quantify cyanocobalamin (vitamin B12) vary considerably in terms of detection sensitivity, from the most sensitive, based on radioisotopes and mass spectrometry (MS) with limits of detection (LOD) in fg mL-1, to fluorescence (FL) and surface plasmon resonance (SPR) biosensors with LOD values in the range of a few µg mL-1. For accurate quantification of an analyte present at trace levels in complex biological matrices, a selective separation and enrichment step is required to overcome matrix interferences and ensure sufficient detection sensitivity. In this study, iron oxide magnetic nanoparticles (IONPs) were used for the extraction and initial preconcentration of cyanocobalamin (vitamin B12). In the dependence of the magnetization on the H-field (hysteresis loop), no coercivity and remanence values were found at 300 K, indicating the superparamagnetic properties of the tested IONPs. Perfluorinated acids were used as amphiphilic agents to allow the sorption of cyanocobalamin onto the IONPs. FT-IR/ATR spectroscopy was used to confirm the sorption of cyanocobalamin on the IONPs. The influence of the addition of a homologous series of perfluorinated acids such as trifluoroacetic acid (TFAA), heptafluorobutyric acid (HFBA), and trichloroacetic acid (TCAA) to the extraction mixture was tested considering their type, mass, and time required for effective sorption. The adsorption kinetics and isotherm, described by the Freundlich and Langmuir equations, were analyzed. The maximum adsorption capacity (qm) exceeded 6 mg g-1 and was 8.9 mg g-1 and 7.7 mg g-1 for HFBA and TCAA, respectively, as the most efficient additives. After the desorption process using aqueous KH2PO4 solution, the sample was finally analyzed spectrophotometrically and chromatographically. The IONP-based method was successfully applied for the isolation of cyanocobalamin from human urine samples. The results showed that the developed approach is simple, cheap, accurate, and efficient for the determination of traces of cyanocobalamin in biological matrices.


Subject(s)
Magnetic Iron Oxide Nanoparticles , Vitamin B 12 , Vitamin B 12/chemistry , Vitamin B 12/analysis , Adsorption , Magnetic Iron Oxide Nanoparticles/chemistry , Limit of Detection , Porosity , Spectroscopy, Fourier Transform Infrared
2.
Int J Mol Sci ; 25(9)2024 May 06.
Article in English | MEDLINE | ID: mdl-38732262

ABSTRACT

Vitamin B12 (cobalamin) is an essential nutrient for humans and animals. Metabolically active forms of B12-methylcobalamin and 5-deoxyadenosylcobalamin are cofactors for the enzymes methionine synthase and mitochondrial methylmalonyl-CoA mutase. Malfunction of these enzymes due to a scarcity of vitamin B12 leads to disturbance of one-carbon metabolism and impaired mitochondrial function. A significant fraction of the population (up to 20%) is deficient in vitamin B12, with a higher rate of deficiency among elderly people. B12 deficiency is associated with numerous hallmarks of aging at the cellular and organismal levels. Cellular senescence is characterized by high levels of DNA damage by metabolic abnormalities, increased mitochondrial dysfunction, and disturbance of epigenetic regulation. B12 deficiency could be responsible for or play a crucial part in these disorders. In this review, we focus on a comprehensive analysis of molecular mechanisms through which vitamin B12 influences aging. We review new data about how deficiency in vitamin B12 may accelerate cellular aging. Despite indications that vitamin B12 has an important role in health and healthy aging, knowledge of the influence of vitamin B12 on aging is still limited and requires further research.


Subject(s)
Aging , Inflammation , Vitamin B 12 Deficiency , Vitamin B 12 , Humans , Vitamin B 12/metabolism , Animals , Aging/metabolism , Vitamin B 12 Deficiency/metabolism , Inflammation/metabolism , Epigenesis, Genetic , Cellular Senescence , Mitochondria/metabolism , DNA Damage
3.
Int J Mol Sci ; 25(9)2024 May 02.
Article in English | MEDLINE | ID: mdl-38732193

ABSTRACT

One-carbon (1-C) metabolic deficiency impairs homeostasis, driving disease development, including infertility. It is of importance to summarize the current evidence regarding the clinical utility of 1-C metabolism-related biomolecules and methyl donors, namely, folate, betaine, choline, vitamin B12, homocysteine (Hcy), and zinc, as potential biomarkers, dietary supplements, and culture media supplements in the context of medically assisted reproduction (MAR). A narrative review of the literature was conducted in the PubMed/Medline database. Diet, ageing, and the endocrine milieu of individuals affect both 1-C metabolism and fertility status. In vitro fertilization (IVF) techniques, and culture conditions in particular, have a direct impact on 1-C metabolic activity in gametes and embryos. Critical analysis indicated that zinc supplementation in cryopreservation media may be a promising approach to reducing oxidative damage, while female serum homocysteine levels may be employed as a possible biomarker for predicting IVF outcomes. Nonetheless, the level of evidence is low, and future studies are needed to verify these data. One-carbon metabolism-related processes, including redox defense and epigenetic regulation, may be compromised in IVF-derived embryos. The study of 1-C metabolism may lead the way towards improving MAR efficiency and safety and ensuring the lifelong health of MAR infants.


Subject(s)
Carbon , Reproductive Techniques, Assisted , Humans , Carbon/metabolism , Vitamin B 12/metabolism , Fertilization in Vitro/methods , Female , Homocysteine/metabolism , Homocysteine/blood , Folic Acid/metabolism , Dietary Supplements , Choline/metabolism , Zinc/metabolism , Betaine/metabolism , Biomarkers
4.
Isr Med Assoc J ; 26(5): 294-298, 2024 May.
Article in English | MEDLINE | ID: mdl-38736344

ABSTRACT

BACKGROUND: The recreational use of nitrous oxide (N2O) has increased in recent years with a noticeable surge in the incidence of nitrous oxide-related myeloneuropathy. OBJECTIVES: To raise awareness of increasing myeloneuropathy due to recreational nitrous oxide misuse in Israel. METHODS: We conducted a case series documenting the clinical and investigative features of eight patients presenting with nitrous oxide-induced myeloneuropathy who were admitted to our departments. RESULTS: Paresthesia was the chief complaint in all patients, with sensory gait ataxia being a common feature, which was often accompanied by Romberg's sign and mild lower limb weakness. Vitamin B12 levels were below the normal range in seven patients, accompanied by elevated homocysteine and methylmalonic acid levels. Magnetic resonance imaging scans revealed hyperintense signals in the dorsal columns of the cervical spine. All patients improved following vitamin B12 injections. CONCLUSIONS: Enhancing awareness, prompting the use of appropriate investigations, and advocating for timely treatment are needed to overcome the risks associated with nitrous oxide misuse.


Subject(s)
Magnetic Resonance Imaging , Nitrous Oxide , Vitamin B 12 , Humans , Nitrous Oxide/adverse effects , Nitrous Oxide/administration & dosage , Male , Adult , Vitamin B 12/administration & dosage , Female , Israel/epidemiology , Magnetic Resonance Imaging/methods , Spinal Cord Diseases/chemically induced , Paresthesia/chemically induced , Paresthesia/diagnosis , Middle Aged , Recreational Drug Use , Gait Ataxia/chemically induced , Gait Ataxia/etiology , Young Adult , Substance-Related Disorders/complications , Vitamin B 12 Deficiency/chemically induced , Vitamin B 12 Deficiency/diagnosis
5.
Med Sci Monit ; 30: e943249, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38769717

ABSTRACT

BACKGROUND Menopause initiates or accelerates health problems in a woman’s life, and affects cognitive processes and quality of life. We aimed to assess the quality of life, cognitive functions, and serum vitamin D, B6, and B12 concentrations in perimenopausal and postmenopausal Polish women. Also, we correlated the assessment of the quality of life with these vitamin concentrations and cognitive functions. MATERIAL AND METHODS The study was conducted in 287 perimenopausal and postmenopausal women. Serum levels of vitamin D, B6, and B12, cognitive functions using CNS Vital Signs software, and quality of life using WHO Quality of Life Brief were tested. RESULTS Almost all of the perimenopausal and postmenopausal women had normal concentrations of serum vitamin B12 (96%), 80% of them had normal B6 concentration, while only 9% had optimal serum vitamin D concentration. Postmenopausal women had lower Neurocognitive Index, psychomotor speed, motor speed, reaction time, and lower assessment of overall quality of life, physical health, and social relationships compared to perimenopausal women. In comparison to postmenopausal women, perimenopausal women had a lower serum vitamin B6 concentration, and the lower the concentration of this vitamin in serum they had, the lower they assessed their environment. Perimenopausal women assessed their social relationships the better, the better the visual memory, and the lower the processing speed they had. Postmenopausal women assessed the environment the better, the higher their Neurocognition Index was, and the better the reaction time they had. CONCLUSIONS Assessment of quality of life was associated with some cognitive functions in both perimenopausal and postmenopausal women.


Subject(s)
Cognition , Perimenopause , Postmenopause , Quality of Life , Vitamin B 12 , Vitamin B 6 , Vitamin D , Humans , Female , Postmenopause/blood , Postmenopause/psychology , Postmenopause/physiology , Poland , Middle Aged , Cognition/physiology , Vitamin D/blood , Vitamin B 12/blood , Perimenopause/blood , Perimenopause/psychology , Perimenopause/physiology , Vitamin B 6/blood , Adult , Aged
6.
Orphanet J Rare Dis ; 19(1): 198, 2024 May 15.
Article in English | MEDLINE | ID: mdl-38750596

ABSTRACT

BACKGROUND: Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show diverse clinical and genetic features across different subtypes and populations. METHODS: We retrospectively recruited 60 MMA patients from a single center and diagnosed them based on their clinical manifestations and biochemical assays. We then performed genetic analysis to confirm the diagnosis and identify the causal variants. RESULTS: We confirmed the common clinical manifestations of MMA reported previously. We also described four rare MMA cases with unusual symptoms or genetic variants, such as pulmonary hypertension or limb weakness in late-onset patients. We identified 15 MMACHC and 26 MMUT variants in 57 patients, including 6 novel MMUT variants. Two patients had only one MMAA variant each, and one patient had mild MMA due to mitochondrial DNA depletion syndrome caused by a SUCLA2 variant. Among 12 critically ill patients, isolated MMA was associated with higher C3, blood ammonia, and acidosis, while combined MMA was linked to hydrocephalus on skull MRI. MMACHC c.658-660delAAG and MMUT c.1280G > A variants were correlated with more severe phenotypes. CONCLUSIONS: Our study demonstrates the clinical and genotypic heterogeneity of MMA patients and indicates that metabolic screening and genetic analysis are useful tools to identify rare cases.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Methylmalonyl-CoA Mutase , Humans , Retrospective Studies , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/diagnosis , Female , Male , China , Methylmalonyl-CoA Mutase/genetics , Child, Preschool , Infant , Child , Adolescent , Vitamin B 12/blood , Vitamin B 12/metabolism , Genetic Testing , Mutation/genetics , Infant, Newborn
7.
Environ Int ; 187: 108715, 2024 May.
Article in English | MEDLINE | ID: mdl-38728816

ABSTRACT

BACKGROUND: Inorganic arsenic is metabolized to monomethyl- (MMAs) and dimethyl- (DMAs) species via one-carbon metabolism (OCM); this facilitates urinary arsenic elimination. OCM is influenced by folate and vitamin B12 and previous randomized control trials (RCTs) showed that folic acid (FA) supplementation increases arsenic methylation in adults. This RCT investigated the effects of FA + B12 supplementation on arsenic methylation in children, a key developmental stage where OCM supports growth. METHODS: A total of 240 participants (8-11 years, 53 % female) drinking from wells with arsenic concentrations > 50 µg/L, were encouraged to switch to low arsenic wells and were randomized to receive 400 µg FA + 5 µg B12 or placebo daily for 12-weeks. Urine and blood samples were collected at baseline, week 1 (only urine) and week 12. Generalized estimated equation (GEE) models were used to assess treatment effects on arsenic species in blood and urine. RESULTS: At baseline, the mean ± SD total blood and urinary arsenic were 5.3 ± 2.9 µg/L and 91.2 ± 89.5 µg/L. Overall, total blood and urine arsenic decreased by 11.7% and 17.6%, respectively, at the end of follow up. Compared to placebo, the supplementation group experienced a significant increase in the concentration of blood DMAs by 14.0% (95% CI 5.0, 25.0) and blood secondary methylation index (DMAs/MMAs) by 0.19 (95% CI: 0.09, 0.35) at 12 weeks. Similarly, there was a 1.62% (95% CI: 0.43, 20.83) significantly higher urinary %DMAs and -1.10% (95% CI: -1.73, -0.48) significantly lower urinary %MMAs in the supplementatio group compared to the placebo group after 1 week. The direction of the changes in the urinary %iAs, %MMAs, and %DMAs at week 12 were consistent with those at week 1, though estimates were not significant. Treatment effects were stronger among participants with higher baseline blood arsenic concentrations. Results were consistent across males and females, and participants with higher and lower folate and B12 status at baseline. CONCLUSION: This RCT confirms that FA + B12 supplementation increases arsenic methylation in children as reflected by decreased MMAs and increased DMAs in blood and urine. Nutritional interventions may improve arsenic methylation and elimination in children, potentially reducing arsenic toxicity while also improving nutritional status.


Subject(s)
Arsenic , Dietary Supplements , Folic Acid , Vitamin B 12 , Humans , Female , Vitamin B 12/blood , Male , Child , Bangladesh , Double-Blind Method , Methylation
8.
Pediatr Allergy Immunol ; 35(5): e14135, 2024 May.
Article in English | MEDLINE | ID: mdl-38700373

ABSTRACT

BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder caused by defect of the extrinsic apoptotic pathway. The current diagnostic criteria combine clinical features and typical biomarkers but have not been the object of clear international consensus. METHODS: We conducted a retrospective study on pediatric patients who were investigated for autoimmune cytopenia and/or lymphoproliferation at the CHU Sainte-Justine Hospital over 10 years. Patients were screened using the combination of TCRαß+ CD4- CD8- "double negative" (DN) T cells and soluble plasmatic FAS ligand (sFASL). RESULTS: Among the 398 tested patients, the median sFASL and DN T cells were 200 ng/mL and 1.8% of TCRαß+ T cells, respectively. sFASL was highly correlated with vitamin B12 levels. We identified five patients diagnosed with ALPS for whose sFASL and vitamin B12 levels were the more discriminating biomarkers. While ALPS diagnostic criteria had high sensibility, their predictive value remained low. CONCLUSION: sFASL level can efficiently discriminate patients with ALPS when using the appropriate thresholds. Our study highlights the need for an international consensus to redefine the place and threshold of biological biomarkers for ALPS diagnosis.


Subject(s)
Autoimmune Lymphoproliferative Syndrome , Biomarkers , Fas Ligand Protein , Humans , Biomarkers/blood , Male , Female , Retrospective Studies , Child , Autoimmune Lymphoproliferative Syndrome/diagnosis , Autoimmune Lymphoproliferative Syndrome/blood , Child, Preschool , Infant , Fas Ligand Protein/blood , Adolescent , Vitamin B 12/blood
9.
Am J Clin Nutr ; 119(5): 1122-1132, 2024 May.
Article in English | MEDLINE | ID: mdl-38702109

ABSTRACT

BACKGROUND: Elevated serum methylmalonic acid (MMA), a marker of cobalamin (vitamin B12) deficiency, has been linked to cancer progression. However, the impact of MMA or cobalamin on mortality risk in cancer survivors remains unknown. OBJECTIVES: To explore the relationship between MMA, serum, dietary, and supplement of cobalamin, MMA metabolism-related genes, and poor prognosis in adult cancer survivors. METHODS: We analyzed data from 1988 cancer survivors aged ≥20 y. Patients were selected from the National Health and Nutrition Examination Survey and followed up until December 31, 2019. Weighted Cox proportional hazard regression was used to estimate hazard ratios (HRs) and the corresponding 95% confidence intervals (CIs) for mortality risk assessment. Genomic analysis identified MMA metabolism-related genes linked to early death in a 33-cancer-type cohort from The Cancer Genome Atlas. RESULTS: Among 1988 participants, 872 deaths occurred over a 10-year follow-up. Higher serum MMA levels were significantly linked to increased long-term mortality risk (tertile 3 compared with tertile 1: adjusted HR: 1.37; 95% CI: 1.11, 1.70; P-trend < 0.001). No associations were found between serum, dietary, and supplement of cobalamin and cancer survivor mortality (each P-trend > 0.143). However, MMA-associated mortality was notable in patients without deficiency. When combining cobalamin and MMA categories, multivariate-adjusted HR (95% CI) for all-cause mortality was 2.06 (95% CI: 1.60, 2.65) in participants with >250 nmol/L and cobalamin >295.1 pmol/L compared with those with MMA ≤250 nmol/L and cobalamin >295.1 pmol/L. Moreover, reduced transcriptional levels of MMA metabolism-related genes, indicating decreased mitochondrial MMA metabolism capability, are linked to an unfavorable prognosis in certain cancer types. CONCLUSIONS: Serum MMA was associated with long-term mortality risk in adult cancer survivors, which was more significant among individuals with higher levels of serum cobalamin. These findings suggest that mortality related to MMA was attributed to the insufficient flux of MMA metabolism, not cobalamin deficiency.


Subject(s)
Biomarkers , Cancer Survivors , Methylmalonic Acid , Vitamin B 12 , Humans , Methylmalonic Acid/blood , Vitamin B 12/blood , Female , Male , Prospective Studies , Middle Aged , Biomarkers/blood , Adult , Neoplasms/mortality , Neoplasms/blood , Cohort Studies , Aged , Risk Factors
10.
Aging (Albany NY) ; 16(9): 7856-7869, 2024 May 02.
Article in English | MEDLINE | ID: mdl-38700503

ABSTRACT

Vitamin B12 and folic acid could reduce blood homocysteine levels, which was thought to slow down the progression of Alzheimer's disease (AD), but previous studies regarding the effect of vitamin B12 and folic acid in treatment of AD have not reached conclusive results. We searched PubMed and Embase until January 12, 2023. Only randomized control trials involving participants clearly diagnosed with AD and who received vitamin B12 and folic acid were enrolled. Five studies that met the criteria were selected for inclusion in the meta-analysis. Changes in cognitive function were measured based on either the Mini-Mental State Examination (MMSE) or the Alzheimer's Disease Assessment Scale-Cognitive Subscale (ADAS-Cog). Changes in daily life function and the level of blood homocysteine were also investigated. After a 6-month treatment, administration of vitamin B12 and folic acid improved the MMSE scores more than placebo did (SMD = 0.21, 95% CI = 0.01 to 0.32, p = 0.04) but did not significantly affect ADAS-Cog scores (SMD = 0.06, 95% CI = -0.22 to 0.33, p = 0.68) or measures of daily life function. Blood homocysteine levels were significantly decreased after vitamin B12 and folic acid treatment. Participants with AD who received 6 months of vitamin B12 and folic acid supplementation had better MMSE scores but had no difference in ADAS-Cog scores. Daily life function did not improve after treatment.


Subject(s)
Alzheimer Disease , Folic Acid , Homocysteine , Randomized Controlled Trials as Topic , Vitamin B 12 , Humans , Folic Acid/therapeutic use , Alzheimer Disease/drug therapy , Alzheimer Disease/blood , Vitamin B 12/therapeutic use , Vitamin B 12/blood , Homocysteine/blood , Cognition/drug effects
11.
PLoS One ; 19(4): e0297976, 2024.
Article in English | MEDLINE | ID: mdl-38630748

ABSTRACT

BACKGROUND: Vitamin B12 deficiency is responsible for a variety of complications, particularly neurological/neuropsychiatric complications, including depression, irritability, paresthesia and insomnia. Since vitamin B12 is found in animal-derived products, vegans/vegetarians are at a greater risk for developing vitamin B12 deficiency. AIMS: This study aims to investigate the occurrence of vitamin B12 deficiency among a sample of adult Lebanese population, with a particular emphasis on assessing the severity of its neurological/neuropsychiatric signs and symptoms, especially among vegans/vegetarians. METHODOLOGY: A cross-sectional study was conducted among a sample of 483 Lebanese adults. Data was collected through a standardized questionnaire that included socio-demographic characteristics, the Patient Health Questionnaire-9 (PHQ-9), Generalized anxiety disorders-7 (GAD-7), and the Insomnia Severity Index (ISI) scales. RESULTS: Among the participants, 11.4% were in the vegan/vegetarian group, and about 43.1% had vitamin B12 deficiency. After analyzing the PHQ-9, GAD-7 and ISI total scores, higher scores were reported in participants with vitamin B12 deficiency, compared to individuals with normal vitamin B12 serum levels (p < 0.001). Regarding the diet type, vegans/vegetarians were more susceptible to developing depression compared to omnivores (mean scores of 11.92 vs 8.02 on the PHQ-9 scale, respectively, with p < 0.001). Of the patients with vitamin B12 deficiency, 81.1% reported having paresthesia compared to 43.7% of individuals with no vitamin B12 deficiency (p < 0.001). CONCLUSION: Vitamin B12 deficiency in Lebanon is notably high and is linked to an increased risk of developing depression, generalized anxiety disorder, insomnia, and paresthesia. Vegans/vegetarians exhibit a higher susceptibility to developing depression compared to omnivores, whereas the risk of developing insomnia, generalized anxiety disorder and paresthesia was statistically insignificant when comparing vegans/vegetarians to omnivores.


Subject(s)
Sleep Initiation and Maintenance Disorders , Vitamin B 12 Deficiency , Adult , Humans , Vegans , Cross-Sectional Studies , Diet, Vegetarian , Sleep Initiation and Maintenance Disorders/complications , Paresthesia , Lebanon , Vegetarians , Diet, Vegan , Vitamin B 12 , Diet
12.
Food Microbiol ; 121: 104525, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38637087

ABSTRACT

The lack of vitamin B12 in unprocessed plant-based foods can lead to health problems in strict vegetarians and vegans. The main aim of this study was to investigate the potential synergy of co-culturing Bifidobacterium animalis subsp. lactis and Propionibacterium freudenreichii in improving production of vitamin B12 and short-chain fatty acids in soy whey. Different strategies including mono-, sequential and simultaneous cultures were adopted. Growth, short-chain fatty acids and vitamin B12 were assessed throughout the fermentation while free amino acids, volatiles, and isoflavones were determined on the final day. P. freudenreichii monoculture grew well in soy whey, whereas B. lactis monoculture entered the death phase by day 4. Principal component analysis demonstrates that metabolic changes in both sequential cultures did not show drastic differences to those of P. freudenreichii monoculture. However, simultaneous culturing significantly improved vitamin B12, acetic acid and propionic acid contents (1.3 times, 5 times, 2.5 times, compared to the next highest treatment [sequential cultures]) in fermented soy whey relative to other culturing modes. Hence, co-culturing of P. freudenreichii and B. lactis would provide an alternative method to improve vitamin B12, acetic acid and propionic acid contents in fermented foods.


Subject(s)
Bifidobacterium animalis , Propionibacterium freudenreichii , Propionates , Propionibacterium freudenreichii/metabolism , Bifidobacterium animalis/metabolism , Whey , Vitamin B 12/analysis , Vitamin B 12/metabolism , Propionibacterium/metabolism , Fatty Acids, Volatile/metabolism , Fermentation , Acetic Acid/metabolism , Whey Proteins/metabolism , Vitamins/metabolism
13.
Neurol Res ; 46(6): 544-552, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38565201

ABSTRACT

BACKGROUND AND AIMS: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) of unknown cause. Alterations in one-carbon metabolism have impact in the pathophysiology by genetic susceptibility to MS and increased the risk of MS. The aim of this study was to investigate the contribution of the gene polymorphism on Methylenetetrahydrofolate Reductase (MTHFR), Methionine Synthase Reductase (MTRR), Methionine Synthase (MTR) enzymes and of the essential factors (homocysteine, Hcy; cysteine, Cys; and vitamin B12, VitB12) in folate metabolism. METHODS: Eligible MS patients (n = 147) and health controls (n = 127) were participated. The gene polymorphisms were analyzed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and the levels of plasma Hcy, Cys and VitB12 were measured by Enzyme Linked Immunuabsorbent Assay (ELISA). RESULTS AND CONCLUSION: Our results showed that the levels of Hcy and VitB12 were lower and the levels of Cys were higher in MS compared to controls. The observation of high Cys values in all 3 gene polymorphisms suggests that the transsulfiration pathway of Hcy is directed towards Cys formation since the methionine synthesis pathway does not work. We could not find any association with all gene polymorphisms with the risk of MS. The T allele of MTHFR C677T and G allele of MTR A2756G are risk factors for serum Cys level on MS. As for MTR A2756G, serum vitB12 was observed in MS patients with G allele.


Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase , Ferredoxin-NADP Reductase , Folic Acid , Genetic Predisposition to Disease , Homocysteine , Methylenetetrahydrofolate Reductase (NADPH2) , Multiple Sclerosis , Humans , Female , Male , Folic Acid/blood , Folic Acid/metabolism , Multiple Sclerosis/genetics , Multiple Sclerosis/blood , Adult , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Genetic Predisposition to Disease/genetics , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Ferredoxin-NADP Reductase/genetics , Homocysteine/blood , Homocysteine/metabolism , Middle Aged , Vitamin B 12/blood , Cysteine/genetics
14.
BMJ Case Rep ; 17(4)2024 Apr 24.
Article in English | MEDLINE | ID: mdl-38663893

ABSTRACT

Vitamin B12 is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B12 deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B12 deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B12 deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B12 deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.


Subject(s)
Neck Pain , Radiculopathy , Vitamin B 12 Deficiency , Vitamin B 12 , Adult , Humans , Male , Cervical Vertebrae , Diagnosis, Differential , Neck Pain/etiology , Radiculopathy/etiology , Radiculopathy/diagnosis , Vitamin B 12/therapeutic use , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis
15.
Saudi Med J ; 45(4): 356-361, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38657991

ABSTRACT

OBJECTIVES: To assess the rate of inappropriate repetition of laboratory testing and estimate the cost of such testing for thyroid stimulating hormone (TSH), total cholesterol, vitamin D, and vitamin B12 tests. METHODS: A retrospective cohort study was carried out in the Family Medicine and Polyclinic Department at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Clinical and laboratory data were collected between 2018-2021 for the 4 laboratory tests. The inappropriate repetition of tests was defined according to international guidelines and the costs were calculated using the hospital prices. RESULTS: A total of 109,929 laboratory tests carried out on 23,280 patients were included in this study. The percentage of inappropriate tests, as per the study criteria, was estimated to be 6.1% of all repeated tests. Additionally, the estimated total cost wasted amounted to 2,364,410 Saudi Riyals. Age exhibited a weak positive correlation with the total number of inappropriate tests (r=0.196, p=0.001). Furthermore, significant differences were observed in the medians of the total number of inappropriate tests among genders and nationalities (p<0.001). CONCLUSION: The study identified significantly high rates of inadequate repetitions of frequently requested laboratory tests. Urgent action is therefore crucial to overcoming such an issue.


Subject(s)
Tertiary Healthcare , Humans , Retrospective Studies , Female , Saudi Arabia , Male , Middle Aged , Adult , Tertiary Healthcare/statistics & numerical data , Unnecessary Procedures/statistics & numerical data , Unnecessary Procedures/economics , Ambulatory Care/statistics & numerical data , Ambulatory Care/economics , Thyrotropin/blood , Aged , Young Adult , Cholesterol/blood , Vitamin B 12/blood , Vitamin D/blood , Cohort Studies , Clinical Laboratory Techniques/economics , Clinical Laboratory Techniques/statistics & numerical data , Adolescent , Value-Based Health Care
16.
PLoS One ; 19(4): e0302500, 2024.
Article in English | MEDLINE | ID: mdl-38662670

ABSTRACT

Metformin is a cornerstone medication in the management of type 2 diabetes. Metformin is safe, effective, and inexpensive; however, it is associated with vitamin B12 deficiency. This study set out to evaluate the rate of vitamin B12 deficiency in Vietnamese patients with type 2 diabetes who were treated with metformin and to investigate factors associated with vitamin B12 deficiency. This is a cross-sectional study that was conducted in Vinmec Central Park Hospital from February to June 2023. The clinical and paraclinical characteristics of the participants were recorded, and the levels of vitamin B12 and folate were measured. The rate of vitamin B12 deficiency in patients treated with metformin was found to be 18.6%. Further, the duration of diabetes, duration of metformin use, metformin dose, and hemoglobin levels were statistically associated with vitamin B12 deficiency with OR (95% CI) = 1.12 (1.03-1.19), 1.01 (1.00-1.02), 1.002 (1.001-1.002), 0.74 (0.55-0.99), respectively. After adjusting for covariates, a metformin dose greater than the median dose remained the only parameter associated with vitamin B12 deficiency, with OR (95% CI) = 4.10 (1.62-10.36). Moreover, when combining both long-term use of metformin and a metformin dose greater than the median dose, the OR increased to 5.25 (95% CI: 2.11-13.15). These results demonstrate that vitamin B12 deficiency in patients treated with metformin is quite prevalent in Vietnam and that those with long-term use of metformin (48 months or more) and high metformin dose (1000 mg/day or more) are at high risk of experiencing this adverse effect and so require screening.


Subject(s)
Diabetes Mellitus, Type 2 , Hypoglycemic Agents , Metformin , Vitamin B 12 Deficiency , Humans , Metformin/therapeutic use , Metformin/adverse effects , Vitamin B 12 Deficiency/chemically induced , Vitamin B 12 Deficiency/drug therapy , Vitamin B 12 Deficiency/epidemiology , Male , Diabetes Mellitus, Type 2/drug therapy , Female , Cross-Sectional Studies , Middle Aged , Hypoglycemic Agents/therapeutic use , Hypoglycemic Agents/adverse effects , Aged , Vitamin B 12/blood , Vietnam/epidemiology , Adult , Folic Acid/administration & dosage
17.
Biomed Environ Sci ; 37(3): 242-253, 2024 Mar 20.
Article in English | MEDLINE | ID: mdl-38582989

ABSTRACT

Objective: This study aimed to evaluate the associations of serum folate and/or vitamin B 12 concentrations with obesity among Chinese children and adolescents. Methods: A cross-sectional study was conducted including 3,079 Chinese children and adolescents, aged 6 to 17 years, from Jiangsu, China. Anthropometric indices, such as, children's body mass index (BMI), BMI z-scores, waist circumference, and waist-to-height ratio were utilized. Multivariable linear regression and generalized additive models were used to investigate the associations of serum folate and vitamin B 12 levels with anthropometric indices and odds of obesity. Results: We observed that serum vitamin B 12 concentrations were inversely associated with all anthropometric indices and the odds of general obesity [odds ratio ( OR) = 0.68; 95% confidence interval ( CI) = 0.59, 0.78] and abdominal obesity ( OR = 0.68; 95% CI = 0.60, 0.77). When compared to participants with both serum vitamin levels in the two middle quartiles, those with both serum folate and vitamin B 12 levels in the highest quartile were less prone to general ( OR = 0.31, 95% CI = 0.19, 0.50) or abdominal obesity ( OR = 0.46, 95% CI = 0.31, 0.67). Conversely, participants with vitamin B 12 levels in the lowest quartile alongside folate levels in the highest quartile had higher odds of abdominal obesity ( OR = 2.06, 95% CI = 1.09, 3.91). Conclusion: Higher serum vitamin B 12 concentrations, but not serum folate concentrations, were associated with lower odds of childhood obesity. Children and adolescents with high levels of vitamin B 12 and folate were less likely to be obese.


Subject(s)
Pediatric Obesity , Vitamin B 12 , Humans , Child , Adolescent , Obesity, Abdominal , Cross-Sectional Studies , Pediatric Obesity/epidemiology , Risk Factors , Body Mass Index , Folic Acid , Vitamins
18.
Cell Mol Biol (Noisy-le-grand) ; 70(3): 7-12, 2024 Mar 31.
Article in English | MEDLINE | ID: mdl-38650163

ABSTRACT

Recurrent Aphthous stomatitis (RAS) is common oral mucosal condition. The pathophysiology of RAS is affected by a variety of variables, including microbial, genetic, immunological and local and systemic diseases. Interleukin IL-1ß, a cytokine that promotes inflammation, has been found in high concentrations in the circulation of RAS. The goal of current investigation was to determine whether RAS is connected with polymorphisms of the IL-1ß 542 T>A gene. A total of 60 RAS patients and 30 controls were included in the study. Biochemical investigations for determining (vitamin D, vitamin B12 and zinc) were done and genotypes of IL-1B gene polymorphisms were determined using polymerase chain reaction (PCR) and sequencing. The mean age of the participants was 30.83 ± 1.466 years (range 16 to 50). There was no significant association of SNP IL-1ß 542T>A polymorphism with RAS diseases compared to controls, in both parameters such as sex (p-value=0.495) and age groups (p-value=0.6253). There was significant difference in the occurrence of both A and T alleles between RAS patients and controls (p-value=0.0058). The mean vitamin D in both genotypes TA and TT differed significantly (p-value=0.007) but in genotype AA there was no significant difference. Significant difference was observed in zinc concentration between patients and controls (p-value=0.0031). The findings of current investigation indicate that there is a specific IL-1ß 542 T>A gene variation that is associated to the pathogenesis of RAS. Allele A was related to the risk of RAS in Erbil city population.


Subject(s)
Genetic Predisposition to Disease , Interleukin-1beta , Polymorphism, Single Nucleotide , Stomatitis, Aphthous , Humans , Stomatitis, Aphthous/genetics , Interleukin-1beta/genetics , Male , Female , Adult , Polymorphism, Single Nucleotide/genetics , Middle Aged , Adolescent , Young Adult , Gene Frequency/genetics , Case-Control Studies , Alleles , Genotype , Vitamin D/blood , Vitamin B 12/blood , Zinc
19.
Biochemistry (Mosc) ; 89(3): 562-573, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38648773

ABSTRACT

The contents of homocysteine (HCy), cyanocobalamin (vitamin B12), folic acid (vitamin B9), and pyridoxine (vitamin B6) were analyzed and the genotypes of the main gene polymorphisms associated with folate metabolism (C677T and A1298C of the MTHFR gene, A2756G of the MTR gene and A66G of the MTRR gene) were determined in children at the onset of multiple sclerosis (MS) (with disease duration of no more than six months), healthy children under 18 years (control group), healthy adults without neurological pathology, adult patients with MS at the onset of disease, and adult patients with long-term MS. A significant increase in the HCy levels was found in children at the MS onset compared to healthy children of the corresponding age. It was established that the content of HCy in children has a high predictive value. At the same time, an increase in the HCy levels was not accompanied by the deficiency of vitamins B6, B9, and B12 in the blood. The lack of correlation between the laboratory signs of vitamin deficiency and HCy levels may be due to the polymorphic variants of folate cycle genes. An increased HCy level should be considered as a marker of functional disorders of folate metabolism accompanying the development of pathological process in pediatric MS. Our finding can be used to develop new approaches to the prevention of demyelination in children and treatment of pediatric MS.


Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase , Folic Acid , Homocysteine , Methylenetetrahydrofolate Reductase (NADPH2) , Multiple Sclerosis , Humans , Homocysteine/blood , Homocysteine/metabolism , Multiple Sclerosis/blood , Multiple Sclerosis/genetics , Multiple Sclerosis/metabolism , Folic Acid/blood , Folic Acid/metabolism , Female , Male , Child , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/deficiency , Methylenetetrahydrofolate Reductase (NADPH2)/metabolism , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/metabolism , Adult , Adolescent , Vitamin B Deficiency/complications , Vitamin B Deficiency/metabolism , Vitamin B Deficiency/blood , Ferredoxin-NADP Reductase/genetics , Ferredoxin-NADP Reductase/metabolism , Vitamin B 12/blood , Vitamin B 12/metabolism , Age of Onset
20.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(4): 371-377, 2024 Apr 15.
Article in Chinese | MEDLINE | ID: mdl-38660901

ABSTRACT

OBJECTIVES: To investigate the levels of serum folate and vitamin B12 (VB12) and their association with the level of neurodevelopment in preschool children with autism spectrum disorder (ASD). METHODS: A total of 324 ASD children aged 2-6 years and 318 healthy children aged 2-6 years were recruited. Serum levels of folate and VB12 were measured using chemiluminescent immunoassay. The Social Responsiveness Scale and the Childhood Autism Rating Scale were used to assess the core symptoms of ASD children, and the Gesell Developmental Schedule was employed to evaluate the level of neurodevelopment. RESULTS: The levels of serum folate and VB12 in ASD children were significantly lower than those in healthy children (P<0.05). Serum folate levels in ASD children were positively correlated with gross and fine motor developmental quotients (P<0.05), and serum VB12 levels were positively correlated with adaptive behavior, fine motor, and language developmental quotients (P<0.05). In ASD children aged 2 to <4 years, serum folate levels were positively correlated with developmental quotients in all domains (P<0.05), and serum VB12 levels were positively correlated with language developmental quotient (P<0.05). In male ASD children, serum VB12 levels were positively correlated with language and personal-social developmental quotients (P<0.05). CONCLUSIONS: Serum folate and VB12 levels in preschool ASD children are lower than those in healthy children and are associated with neurodevelopmental levels, especially in ASD children under 4 years of age. Therefore, maintaining normal serum folate and VB12 levels may be beneficial for the neurodevelopment of ASD children, especially in ASD children under 4 years of age.


Subject(s)
Autism Spectrum Disorder , Folic Acid , Vitamin B 12 , Humans , Autism Spectrum Disorder/blood , Autism Spectrum Disorder/etiology , Child, Preschool , Male , Female , Folic Acid/blood , Vitamin B 12/blood , Child , Child Development
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