Search Results (31)

Biotin (vitamin B7) is a common, naturally occurring water-soluble vitamin. It belongs to the broad group of B vitamins. It is a common ingredient in dietary supplements, cosmetics, medicines, and parapharmaceutical preparations administered orally or applied topically (to the skin, hair, nails). The problem of the relationship between vitamin B supplementation and sensitivity seems to be multi-threaded. There is little literature data that would confirm that oral vitamin B supplementation or local exposure to biotin is a significant sensitizing factor. Moreover, it seems that allergy to vitamin B7 is very rare. It is possible, however, that the relationship between biotin and hypersensitivity is not limited to its direct action, but results from its essential metabolic function. Vitamin B7, as a cofactor of five carboxylases, affects the main pathways of cellular metabolism. Both deficiency and excess of biotin can result in metabolic disorders, which can have a significant impact on the homeostasis of the entire organism, including the efficient functioning of the immune system. Dysregulation of immune systems leads to its dysfunctional functioning, which can also lead to sensitization to various environmental antigens (allergens). Biotin is also used as an element of some methodological models in immunochemical tests (in vitro diagnostics), including methods used to measure the concentration of immunoglobulin E (IgE), both total (tIgE) and allergen-specific (sIgE). For this reason, vitamin B7 supplementation can be a significant interfering factor in some immunochemical tests, which can lead to false laboratory test results, both false positive and false negative, depending on the test format. This situation can have a direct impact on the quality and effectiveness of diagnostics in various clinical situations, including allergy diagnostics. This review focuses on the role of biotin in allergic reactions, both as a causative factor (allergen/hapten), a factor predisposing to the development of sensitization to various allergens, and an interfering factor in immunochemical methods used in laboratory diagnosis of hypersensitivity reactions and how it can be prevented. Full article

Autoimmune gastritis (AIG) is an uncommon and often underestimated condition in children, characterized by chronic stomach inflammation leading to the destruction of oxyntic glands with subsequent atrophic and metaplastic changes. This condition is associated with hypo-/achlorhydria, impairing iron and vitamin B12 absorption. The pathogenesis involves the activation of helper type 1 CD4+/CD25-T-cells against parietal cells. Clinical manifestations in children are not specific and include abdominal pain, bloating, nausea, vomiting, and iron deficiency anemia (IDA). The disease is also linked to an increased risk of pernicious anemia, intestinal-type gastric cancer, and type I neuroendocrine tumors. AIG is often diagnosed through the presence of autoantibodies in the serum, such as parietal cell (APCA) and intrinsic factor (IF) antibodies. However, therapeutic recommendations for pediatric AIG are currently lacking. We aim to present two clinical cases of pediatric-onset AIG, highlighting the heterogeneous clinical manifestations and the challenges in diagnosis with the support of an updated literature review. A 9-year-old girl presented with refractory IDA, initial hypogammaglobulinemia, and a 12-year-old boy was initially diagnosed with eosinophilic esophagitis. Both cases underline the importance of considering AIG in children with chronic gastrointestinal symptoms and gastric atrophy. Diagnostic workup, including endoscopy and serological tests, is crucial for accurate identification. A better understanding of this condition is imperative for timely intervention and regular monitoring, given the potential long-term complications, including the risk of malignancy. These cases contribute to expanding the clinical spectrum of pediatric AIG and highlight the necessity for comprehensive evaluation and management in affected children. Full article

Background/Objectives: Severe mental illnesses such as schizophrenia, major depressive disorder, and bipolar disorder are often accompanied by metabolic comorbidities. While the role of vitamins in physical health is well-established, their involvement in psychiatric disorders has garnered increasing attention in recent years. Methods: We conducted a cross-sectional analysis of 1003 patients diagnosed with severe mental illnesses. Vitamin D, B9, and B12 serum levels were measured, and deficiencies were defined using established clinical cutoffs. Multivariate regression analyses were performed to identify associations between vitamin deficiencies and clinical outcomes. Results: Our findings revealed that vitamin deficiencies were prevalent across all diagnostic groups, with particularly high rates in patients with schizophrenia and major depressive disorder. Vitamin D deficiency was significantly associated with worse psychiatric outcomes, including increased depressive symptoms (adjusted OR = 1.89, p = 0.018), lower Global Assessment of Functioning scores (adjusted OR = −0.18, p < 0.001), and higher rates of metabolic syndrome (adjusted OR = 1.97, p = 0.007). Folate and B12 deficiencies were also linked to greater psychiatric symptom severity and metabolic disturbances, including increased risks of obesity and dyslipidemia. Conclusions: Our study highlights the critical role of vitamins deficiencies in both psychiatric and metabolic health of patients with severe mental illnesses. These findings underscore the importance of routine screening and correction of these deficiencies as part of comprehensive care in psychiatric populations. The integration of nutritional interventions may offer a novel and holistic approach to improving both mental and physical health outcomes. Full article

Background: Historically used as a marker for inherited disorders, the current interest in plasma homocysteine measurement lies in its ability to provide valuable information about the metabolic and nutritional status of patients. Specifically, nitrous oxide (N₂O) abuse can lead to functional vitamin B12 deficiency by oxidation and increase oxidative stress, resulting in elevated plasma homocysteine levels, which mimic neurological conditions such as Guillain–Barré syndrome. Rapid identification of hyperhomocysteinemia is crucial for timely intervention and avoiding costly, unnecessary treatments. Objective: This study evaluates the performance of a rapid immunoassay technique (Snibe) compared to mass spectrometry (LC-MS/MS) for measuring plasma homocysteine levels in patients with nitrous oxide abuse and non-inherited caused of elevated homocysteine, aiming to enhance differential diagnosis related to oxidative stress. Methods: 235 patients from Lille University Hospital were included. EDTA blood samples were collected and analyzed using both rapid immunoassay (Snibe) and LC-MS/MS. Neurological assessment was performed using the peripheral neuropathy disability (PND) score. Results: Firstly, significant elevations in plasma homocysteine levels were observed in patients abusing nitrous oxide measured by LC-MS/MS. Secondly, the immunoassay provided rapid results, essential for early clinical decision-making, but tended to underestimate high values compared to LC-MS/MS. A good correlation was found between the methods for low and moderate values. Conclusion: The immunoassay tended to underestimate high-value samples compared to LC-MS/MS, which is a common problem with the competitive methodology. The rapid immunoassay technique is effective for initial screening and early intervention, aiding in the differential diagnosis of conditions related to oxidative stress. Therefore, it is recommended to use the CLIA method for initial screening and confirm with mass spectrometry if there are abnormal samples. Integrating both techniques can enhance diagnostic accuracy and improve patient outcomes. Full article

Citrus trees require a balanced and adequate supply of macronutrient and micronutrient elements for high yield and fruit quality. Foliar nutrient analysis has been widely used in fruit-tree nutrient diagnosis and fertilization calculation. However, there is no information on ways to produce optimal fruit quality in sweet oranges. In the present study, fruit and leaf samples were collected from 120 ‘Bingtang’ sweet orange [Citrus sinensis (L.) Osbeck] orchards during four consecutive years (2019–2022). Parameters of leaf nutrition and fruit quality were analyzed based on these samples. Diagnostic results based on leaf classification standards indicated that the most deficient elements were Ca, Mg, and B, followed by N and Zn. Fruit quality, determined by single fruit weight (SFW), fruit shape index (FSI), total soluble solids (TSS), titratable acidity (TA), vitamin C (Vc), and maturation index (MI = TSS/TA) during fruit maturation, exhibited inconsistent responses to leaf mineral nutrition concentrations. The leaf-nutrient optimum values for high quality of the ‘Bingtang’ sweet orange fruit were ranges of 2.41–4.92% N, 0.10–0.28% P, 1.30–2.11% K, 2.99% Ca, 0.26–0.41% Mg, 340–640 mg/kg S, 89.65–127.46 mg/kg Fe, 13.48–51.93 mg/kg Mn, 2.60–13.84 mg/kg Cu, 15.59–51.48 mg/kg Zn, and 53.95 mg/kg for B. These results suggest the leaf-nutrient optimum values for diagnosis can be used not only to identify the nutrient constraints but also to provide guidance for the establishment of fertilization regimes in citrus cultivation. Full article

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable. Full article

The prevalence of adverse reactions to foodstuffs (ARFS), such as food allergy (FA) and food intolerance (FI), has been increasing worldwide during the past decades. Currently, strict food allergen avoidance is the principal recommended treatment of ARFS. However, individuals with ARFS following elimination diets have shown crucial micronutrient deficiencies. There is an emerging necessity for an effective ARFS strategy which may help mitigate the nutritional deficiency problem. To develop a strategy for the management of ARFS including a food allergen-specific substitutive diet (FASSD) together with the evaluation of the clinical picture, food consumption, food-allergen profile and quality of life (QoL) in adults with ARFS. The interest of this study is focused on current growing public health problems: FA and FI. The following measurements will be considered: (1) informed consent and inclusion/exclusion criteria forms; (2) symptomatology, food consumption and dietary intake: PSIMP-ARFSQ-10 and FBFC-ARFSQ-18 validated ARFS-specific questionnaires and a 24 h dietary recall interview; (3) immunology: food-allergen profile (IgE and IgG₄ antibodies against 82 common Mediterranean food and beverages) using HELIA^® Helmed line immunoassay analyzer (Aesku.Diagnostics, Wendelsheim, Germany); (4) enzymatic activity: lactose and fructose breath test using Cerascreen^® hydrogen and methane detector kit (Cerascreen GmbH, Schwerin, Germany); (5) QoL aspects: SF-12 and FAQLQ-AF validated questionnaires; (6) six-month FASSD intervention; (7) repetition of measurements from 1 to 6; (8) adjustment of the FASSD. The six-month FASSD was designed for adults aged 18 to 70 years according to individual immunological and enzymatic results. Substitutive foodstuffs were chosen using BEDCA, USDA and NCCDB food composition databases reference tables when they represented the same nutritional value as the foodstuff with positive IgE and IgG₄ reaction (≥3.5 kU_A/L). Particular attention was paid to vitamin A, D, E, C, folate, B1, B2, B3, B6, B12, calcium, iron, potassium, magnesium, sodium, phosphorus, iodine, selenium and zinc when choosing the substitutive foodstuffs. The FASSD was developed as a proposed tool to improve health and QoL of adults with symptoms associated with ARFS. Full article

Pooled data from published reports on infants with clinically diagnosed vitamin B12 (B12) deficiency were analyzed with the purpose of describing the presentation, diagnostic approaches, and risk factors for the condition to inform prevention strategies. An electronic (PubMed database) and manual literature search following the PRISMA approach was conducted (preregistration with the Open Science Framework, accessed on 15 February 2023). Data were described and analyzed using correlation analyses, Chi-square tests, ANOVAs, and regression analyses, and 102 publications (292 cases) were analyzed. The mean age at first symptoms (anemia, various neurological symptoms) was four months; the mean time to diagnosis was 2.6 months. Maternal B12 at diagnosis, exclusive breastfeeding, and a maternal diet low in B12 predicted infant B12, methylmalonic acid, and total homocysteine. Infant B12 deficiency is still not easily diagnosed. Methylmalonic acid and total homocysteine are useful diagnostic parameters in addition to B12 levels. Since maternal B12 status predicts infant B12 status, it would probably be advantageous to target women in early pregnancy or even preconceptionally to prevent infant B12 deficiency, rather than to rely on newborn screening that often does not reliably identify high-risk children. Full article

Understanding the molecular mechanisms of neurological disorders is necessary for the development of personalized medicine. When the diagnosis considers not only the disease symptoms, but also their molecular basis, treatments tailored to individual patients may be suggested. Vitamin-responsive neurological disorders are induced by deficiencies in vitamin-dependent processes. These deficiencies may occur due to genetic impairments of proteins whose functions are involved with the vitamins. This review considers the enzymes encoded by the DHTKD1, PDK3 and PDXK genes, whose mutations are observed in patients with Charcot–Marie–Tooth (CMT) disease. The enzymes bind or produce the coenzyme forms of vitamins B1 (thiamine diphosphate, ThDP) and B6 (pyridoxal-5′-phosphate, PLP). Alleviation of such disorders through administration of the lacking vitamin or its derivative calls for a better introduction of mechanistic knowledge to medical diagnostics and therapies. Recent data on lower levels of the vitamin B3 derivative, NAD+, in the blood of patients with CMT disease vs. control subjects are also considered in view of the NAD-dependent mechanisms of pathological axonal degeneration, suggesting the therapeutic potential of vitamin B3 in these patients. Thus, improved diagnostics of the underlying causes of CMT disease may allow patients with vitamin-responsive disease forms to benefit from the administration of the vitamins B1, B3, B6, their natural derivatives, or their pharmacological forms. Full article

Helicobacter pylori (H. pylori) infection, which affects approximately half of the world’s population, remains a serious public health problem. As H. pylori infection leads to a number of gastric pathologies, including inflammation, gastroduodenal ulcers, and malignancies, early detection and treatment are crucial to preventing the spread of the infection. Multiple extragastric complications, such as iron deficiency anaemia, immune thrombocytopenic purpura, vitamin B12 deficiency, diabetes mellitus, cardiovascular diseases, and certain neurological disorders, have also been linked to H. pylori infection. An awareness of H. pylori and associated health hazards is necessary to minimize or even eradicate the infection. Therefore, there is an urgent need to raise the standards for the currently employed diagnostic, eradication, alternative treatment strategies. In addition, a brief overview of traditional and cutting-edge approaches that have proven effective in identifying and managing H. pylori is needed. Based on the test and laboratory equipment available and patient clinical characteristics, the optimal diagnostic approach requires weighing several factors. The pathophysiology and pathogenic mechanisms of H. pylori should also be studied, focusing more on the infection-causing virulence factors of this bacterium. Accordingly, this review aims to demonstrate the various diagnostic, pathophysiological, therapeutic, and eradication tactics available for H. pylori, emphasizing both their advantages and disadvantages. Invasive methods (such as quick urease testing, biopsy, or culture) or noninvasive methods (such as breath tests, stool investigations, or serological tests) can be used. We also present the most recent worldwide recommendations along with scientific evidence for treating H. pylori. In addition to the current antibiotic regimens, alternative therapies may also be considered. It is imperative to eradicate the infections caused by H. pylori as soon as possible to prevent problems and the development of stomach cancer. In conclusion, significant advances have been made in identifying and treating H. pylori. To improve eradication rates, peptide mass fingerprinting can be used as a diagnostic tool, and vaccines can also eliminate the infection. Full article

Vitamin D takes part in the functioning of many processes that ensure the homeostasis of the body. In orthopedics, it is indicated as an inseparable element ensuring proper bone growth and functioning, and its deficiencies are indicated in various diseases, mainly in the proper structure and function of the skeleton. In this review, we focus on the most important components of the vitamin D metabolic pathway, in correlation with selected orthopedic conditions. Records were obtained from the PubMed database in a timeline of 2010–2022. The keywords were as follows: vitamin D/cholesterol/vitamin D binding protein/ VDBP/Cytochrome/CYP24A1/CYP 27B1/Vitamin D receptor/VDR/ + diseases (ACL reconstruction, rotator cuff, arthroplasty knee/hip/shoulder). The recent original studies were analyzed, discussed, and the most important data were shown. The vast majority of articles concern the metabolite of vitamin D (25(OH)D), which is measured as a standard in diagnostic laboratories. Even though there is a lot of valuable information in the literature, we believe that the other elements of the vitamin D pathway also deserve attention and suggest their research in correlation with orthopedic disorders to supplement the missing knowledge on this topic. Full article

Acquired vitamin B12 (vB12) deficiency (vB12D) of newborns is relatively frequent as compared with the incidence of inherited diseases included in newborn screening (NBS) of different countries across the globe. Infants may present signs of vB12D before 6 months of age with anemia and/or neurologic symptoms when not diagnosed in asymptomatic state. The possibility of identifying vitamin deficient mothers after their pregnancy during the breastfeeding period could be an additional benefit of the newborn screening. Vitamin supplementation is widely available and easy to administer. However, in many laboratories, vB12D is not included in the national screening program. Optimized screening requires either second-tier testing or analysis of new urine and blood samples combined with multiple clinical and laboratory follow ups. Our scope was to review the physiologic fate of vB12 and the pathobiochemical consequences of vB12D in the human body. Particular emphasis was put on the latest approaches for diagnosis and treatment of vB12D in NBS. Full article

Vitamin B₁₂ deficiency, mostly of maternal origin in newborns, is a well-treatable condition but can cause severe neurologic sequelae in infants. Early detection of vitamin B₁₂ deficiency allows the pre-symptomatic treatment of affected children. This evaluation assesses the characteristics of maternal vitamin B₁₂ deficiency detected by newborn screening. In a prospective single-center study, a systematic screening strategy for vitamin B₁₂ deficiency using a combination of two second-tier strategies was applied. In addition to confirmatory diagnostics in children, the systematic work-up of vitamin B₁₂ status was also performed for their mothers. Maternal characteristics were assessed including ethnic origin, diet, and vitamin supplementation during pregnancy. For affected mothers, a work-up by internal medicine was recommended. In total, 121 mother–infant couples were analyzed. 66% of mothers adhered to a balanced diet including meat. The cause of maternal vitamin B₁₂ deficiency was unknown in 56% of cases, followed by dietary causes in 32%, and organic causes in 8%. All mothers following a vegan diet and most mothers with a vegetarian diet took vitamin preparations during pregnancy, whereas only 55.8% of mothers with a balanced diet took folic acid or other vitamins. Maternal vitamin B₁₂, folic acid, and homocysteine levels were significantly correlated with the child’s folic acid levels, and with homocysteine, methylmalonic, and methylcitric acid levels in first and second NBS dried blood spots. Most children had normal blood counts and showed normocytosis. Although 36.7% of mothers showed anemia, only one presented with macrocytosis. Adherence to vitamin supplementation in pregnancy is low despite the recommendation for supplementation of folic acid. Ideally, the evaluation of mothers for vitamin B₁₂ levels and appropriate therapy should be initiated in early pregnancy. In infants detected through newborn screening, the multidisciplinary assessment and therapy of both children and mothers should be performed. Full article

Idiopathic intracranial hypertension (IIH) is a neurological disorder characterised by optic disc swelling secondary to raised intracranial pressure (ICP) of unknown cause. Obesity is the most established and prevalent risk factor in developed countries. As obesogenic diets are high in calories and nutrient-poor, there may be associated nutritional deficiencies that contribute to the clinical presentation of IIH. Yet none, aside from iron deficiency, are currently included in the inclusion or exclusion criteria for the diagnosis of IIH. Our primary aim was to determine which micronutrient deficiencies, aside from iron deficiency, could present with optic disc swelling associated with or without intracranial hypertension that could potentially meet current IIH diagnostic criteria. To this end, we conducted a systematic search of articles published between 1 January 1980 and 18 December 2020 reporting cases of optic disc swelling associated with micronutrient deficiencies. In total, 65 cases met the eligibility criteria from initial searches: all were case reports and case series with a high risk of bias. Our findings suggest that patients with IIH or unexplained optic disc swelling ought to be screened, investigated, and treated for associated micronutrient deficiencies in vitamin A, B1 and B12; and weight loss interventions in IIH patients ought to promote better nutrition in addition to overall calorie restriction. Full article

Mycoplasma ovis (formerly Eperythrozoon ovis) is a haemotropic parasitic bacterium found within erythrocytes and distributed widely in global sheep and goat production regions. M. ovis is transmitted by biting flies and by contaminated instruments, causing morbidity and mortalities from anaemia, usually within 6 weeks following blood-exposure procedures, particularly vaccination, castration, ear tagging, mulesing, and occasionally crutching and shearing. Affected animals develop haemolytic anaemia and may have jaundice, causing abattoir condemnations. The typical history, clinical and pathological findings, display of M. ovis in blood smears and/or by PCR is diagnostic, although immune responses deplete M. ovis from smears; hence, in-contact healthy animals should be examined. Differential diagnoses include haemonchosis, fasciolosis, malnutrition (copper or vitamin B12 deficiency), and plant toxicities. M. ovis parasitaemia may persist, with recrudescence following stressful events, although most older sheep remain immune. Human infections have been reported. Inadequate socioeconomic data present difficulties in assessing the impact of M. ovis on production and as antimicrobial therapy is ineffective, its control requires management practices that minimize the impact of invasive procedures in periods when risks of M. ovis transmission are more likely. Although considered an emerging pathogen, recent improvements in welfare attitudes and husbandry practices on Australian sheep farms may potentially limit the transmission of M. ovis. Full article