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1.
Saudi Med J ; 45(6): 591-597, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38830661

ABSTRACT

OBJECTIVES: To study the prevalence of thyroid disorders (TDs) among the diabetic population in Arar, Saudi Arabia. METHODS: A cross-sectional design study carried out in Arar, northern province of Saudi Arabia, from October 2023 to January 2024. A structured questionnaire was used to collect the data. From the diabetic population aged over 18 years old. RESULTS: A total of 501 participants were enrolled. Most fall within the 20-35 age range, comprising 36.5% of the sample. Vitamin D deficiency appears to be the most prevalent comorbid condition. Following closely behind is vitamin B12 deficiency; hypertension and high blood lipids also show notable prevalence rates, affecting 10.5-22.1% of the population. In terms of diabetes, 42.8% of the population has been diagnosed with the condition. Among those with diabetes, the majority (67.6%) have been diagnosed with the second type, while 32.4% have the first type. There is an association between diabetes and TDs, with 51.3% of participants reporting this. CONCLUSION: The findings indicate that the adults in Arar, Saudi Arabia, lack some knowledge of TDs and their relationship to diabetes.


Subject(s)
Diabetes Mellitus , Thyroid Diseases , Humans , Saudi Arabia/epidemiology , Adult , Prevalence , Thyroid Diseases/epidemiology , Thyroid Diseases/complications , Male , Cross-Sectional Studies , Female , Middle Aged , Young Adult , Diabetes Mellitus/epidemiology , Vitamin D Deficiency/epidemiology , Vitamin D Deficiency/complications , Vitamin B 12 Deficiency/epidemiology , Vitamin B 12 Deficiency/complications , Aged , Adolescent , Hypertension/epidemiology , Comorbidity
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.
Gulf J Oncolog ; 1(45): 91-93, 2024 May.
Article in English | MEDLINE | ID: mdl-38774937

ABSTRACT

Polycythemia vera (PV) is a chronic myeloproliferative disorder characterized by uncontrolled red blood cell production. Megaloblastic anemia is caused by deficiency of cobalamin (vitamin B12) and/or folate (vitamin B9). While B12 deficiency may be caused by insufficient dietary intake or impairment of its utilization, its association with PV is described without exact knowledge of the physiopathology. We herein report the occurrence of megaloblastic anemia due to Vitamin B12 deficiency in an 85-year-old North African woman patient with PV. This case highlights this atypical presentation of PV and challenges that comes with it causing the delay of diagnosis and the complexity of its diagnosis and treatment. Keywords: megaloblastic anemia, polycythemia vera, association, case report.


Subject(s)
Anemia, Megaloblastic , Polycythemia Vera , Humans , Female , Polycythemia Vera/complications , Polycythemia Vera/diagnosis , Aged, 80 and over , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis
4.
Biomolecules ; 14(5)2024 Apr 28.
Article in English | MEDLINE | ID: mdl-38785935

ABSTRACT

Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized nuclear magnetic resonance spectroscopy (NMR) generate the same information, i.e., spectra generated by various groups from the structure of metabolites, they are rarely employed in the same study or by the same research group. As our review reveals, these techniques have never been applied in the same study of methylmalonic acidemia (MMA), propionic acidemia (PA) or vitamin B12 deficiency patients. On the other hand, MRS and NMR provide complementary information which is very valuable in the assessment of the severity of disease and efficiency of its treatment. Thus, MRS provides intracellular metabolic information from localized regions of the brain, while NMR provides extracellular metabolic information from biological fluids like urine, blood or cerebrospinal fluid. This paper presents an up-to-date review of the NMR and MRS studies reported to date for methylmalonic and propionic acidemias. Vitamin B12 deficiency, although in most of its cases not inherited, shares similarities in its metabolic effects with MMA and it is also covered in this review.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Magnetic Resonance Spectroscopy , Propionic Acidemia , Humans , Propionic Acidemia/diagnosis , Propionic Acidemia/metabolism , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/metabolism , Magnetic Resonance Spectroscopy/methods , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/metabolism , Methylmalonic Acid/metabolism
5.
Medicine (Baltimore) ; 103(21): e37605, 2024 May 24.
Article in English | MEDLINE | ID: mdl-38788012

ABSTRACT

RATIONALE: Subacute combined degeneration of the spinal cord is a degenerative disease of the central and peripheral nervous systems caused by vitamin B12 deficiency, mainly involving the spinal cord posterior, lateral, and peripheral nerves, but rarely involving the cerebellum. PATIENT CONCERNS: A 41-year-old woman presented with a 2-year history of walking unsteadily. Her hematologic examination revealed megaloblastic anemia and vitamin B12 deficiency. Electromyography showed multiple peripheral nerve damage (sensory fibers and motor fibers were involved). Imaging examination showed long T2 signal in the cervical, thoracic and lumbar spinal cord and cerebellum. Gastroscopy revealed autoimmune gastritis. DIAGNOSES: Subacute combined degeneration of the spinal cord. INTERVENTIONS: By supplementing with vitamin B12. OUTCOMES: The patient's symptoms of limb weakness, diet, and consciousness were improved, and the muscle strength of both lower limbs recovered to grade IV. LESSONS: The symptomatic people should seek medical treatment in time to avoid further deterioration of the disease. When esophagogastroduodenoscopy is performed as part of routine physical examination in asymptomatic people, it should be checked for the presence of autoimmune gastritis. Early diagnosis can prevent irreversible neuropathy.


Subject(s)
Subacute Combined Degeneration , Humans , Female , Adult , Subacute Combined Degeneration/etiology , Subacute Combined Degeneration/diagnosis , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis , Gastritis/diagnosis , Vitamin B 12/therapeutic use , Vitamin B 12/administration & dosage , Cerebellum/pathology , Cerebellum/diagnostic imaging , Magnetic Resonance Imaging
6.
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
7.
Nutrients ; 16(10)2024 May 15.
Article in English | MEDLINE | ID: mdl-38794733

ABSTRACT

Older adults living in nursing homes (NH) are considered a population group that could be at risk in terms of nutrition, even more so than their community-dwelling peers. Evidence on the nutritional status of NH residents is scarce, as they are commonly excluded from population-based dietary studies. This is also the case in Slovenia. In the presented pilot study, we assessed the intake of macronutrients as well as the intake and status of vitamin D and vitamin B12 on a sample of NH and NH daycare center users to explore the need for a larger representative study. The pilot study included 37 participants from three Slovenian NH (20 participants) and their daycare centers (17 participants). Daycare centers offer daytime care services for older adults, where users are also provided with major meals during their stay. Intakes of energy and nutrients were estimated by three 24 h dietary records. Fasting blood samples were collected for the assessment of vitamin D and vitamin B12 status. Over 90% of the participants had daily energy and protein intakes below recommendations (reference values: energy intake: males 2100 kcal and females 1700 kcal; protein intake > 1 g/kg body mass). The males' median daily intakes of vitamin D were 1.7 µg (1.5 µg females), and 2.3 µg for vitamin B12 (2.0 µg females). None of the participants had adequate vitamin D intake (>20 µg), and 92.3% males and 87.5% females had inadequate vitamin B12 intake (<4 µg). The prevalence of vitamin D deficiency (serum 25-OH-D conc. < 30 nmol/L) was 100% among NH residents and 53% among NH daycare center users. The prevalence of vitamin B12 deficiency was found in 20% of NH residents. The study results highlighted that certain nutrients might be critical in this population, especially among NH residents; however, a more thorough investigation with the inclusion of other important markers of nutritional status should be performed on a larger, representative sample to support the development and implementation of appropriate public health interventions.


Subject(s)
Nursing Homes , Nutritional Status , Vitamin B 12 , Vitamin D Deficiency , Vitamin D , Humans , Female , Pilot Projects , Male , Vitamin B 12/blood , Vitamin B 12/administration & dosage , Aged , Vitamin D/blood , Vitamin D/administration & dosage , Aged, 80 and over , Vitamin D Deficiency/epidemiology , Vitamin D Deficiency/blood , Slovenia/epidemiology , Nutrients/analysis , Nutrients/administration & dosage , Energy Intake , Homes for the Aged , Vitamin B 12 Deficiency/epidemiology , Vitamin B 12 Deficiency/blood , Diet/statistics & numerical data , Nutrition Assessment
8.
Clin Neuropharmacol ; 47(3): 87-96, 2024.
Article in English | MEDLINE | ID: mdl-38743602

ABSTRACT

OBJECTIVES: Clinical manifestations of vitamin B12 deficiency are varied and may result in missed or delayed diagnosis. This investigation explores the diverse clinical manifestations and demographic characteristics of vitamin B12 deficiency in neurology outpatients, aiming to enhance timely diagnosis and outcomes. METHODS: The severity of vitamin B12 deficiency was classified as absolute (≤150 pg/mL) or borderline deficiency (150-300 pg/mL). We conducted a retrospective analysis of 165 outpatients with vitamin B12 deficiency at the department of neurology between May 2020 and May 2021. RESULT: Absolute vitamin B12 deficiency was found in 23.0% of the patients. The most common age range was 50-60 years, the most common cause was vegetarianism, and the most common symptom was headache. Epileptiform symptoms were more likely to occur in younger patients (<20 years old) with vitamin B12 deficiency, whereas psychiatric symptoms were more likely to occur in older patients (>70 years old). Vegetarians, salivation, and nonmegaloblastic anemia were more obvious in patients with absolute vitamin B12 deficiency, whereas headaches often showed borderline B12 deficiency. CONCLUSIONS: The clinical characteristics of vitamin B12 deficiency are complex and nonspecific. The diagnosis should be based on multiple factors.


Subject(s)
Outpatients , Vitamin B 12 Deficiency , Humans , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/epidemiology , Retrospective Studies , Middle Aged , Male , Female , Aged , Adult , Young Adult , Adolescent , Headache/diagnosis , Aged, 80 and over , Neurology
9.
Nutrients ; 16(10)2024 May 10.
Article in English | MEDLINE | ID: mdl-38794680

ABSTRACT

With a significant portion of the population adopting veganism and conflicting views among nutrition professionals regarding the necessity of vitamin B12 supplementation, this review aims to explore existing studies evaluating interventions through food supplementation. It focuses on the impact of vitamin B12 deficiency across different demographics. The present study seeks to understand how research has addressed the relationship between the rise in veganism and vitamin B12 deficiency over the past decade. A scoping review was conducted following the PRISMA flow diagram. Studies from 2010 to 2023 were identified using Boolean operators and key terms in electronic databases such as PubMed/MEDLINE, Web of Science, and EBSCO (Library, Information Science & Technology Abstracts, and Academic Search Complete). Out of 217 articles identified, 70 studies were included. The topical analysis categorized the studies into three groups: those associating vitamin B12 deficiency with diseases (n = 14), those analyzing the dietary habits of vegetarian individuals (vegan or not) without a specific focus on vitamin B12 (n = 49), and those addressing food guides and nutrition institution positions (n = 7). The authors concluded that vitamin B12 deficiency is prevalent among vegans due to limited consumption of animal products. For vegetarians, supplementation is an efficient means of treating and preventing deficiency; a daily dose of 50 to 100 micrograms is advised. There are still significant gaps in the research, nevertheless, such as the absence of randomized controlled trials evaluating various forms or dosages of vitamin B12 among vegetarians and the requirement for more information and awareness of the vitamin's significance in vegan diets.


Subject(s)
Diet, Vegan , Dietary Supplements , Vegans , Vitamin B 12 Deficiency , Vitamin B 12 , Humans , Vitamin B 12/administration & dosage , Vitamin B 12 Deficiency/epidemiology , Diet, Vegetarian , Adult , Female , Male , Middle Aged , Adolescent , Young Adult , Aged
10.
Curr Psychiatry Rep ; 26(6): 265-272, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38696105

ABSTRACT

PURPOSE OF REVIEW: Vitamin B12 (B12, cobalamin) deficiency has been associated with neuropsychiatric symptoms, suggesting a role for B12 supplementation both as a treatment for psychiatric symptoms due to B12 deficiency and as an augmentation strategy for pharmacological treatments of psychiatric disorders. This critical review discusses the major causes of B12 deficiency, the range of psychiatric and non-psychiatric manifestations of B12 deficiency, the indications for testing B12 levels, and the evidence for B12 supplementation for major psychiatric disorders. RECENT FINDINGS: We find that high-quality evidence shows no benefit to routine B12 supplementation for mild depressive symptoms or to prevent depression. There is very limited evidence on the role of B12 supplementation to augment antidepressants. No high-quality evidence to date suggests a role for routine B12 supplementation in any other major psychiatric disorder. No formal guidelines indicate when clinicians should test B12 levels for common psychiatric symptoms, in the absence of major risk factors for deficiency or cardinal symptoms of deficiency. No robust evidence currently supports routine B12 supplementation for major psychiatric disorders. However, psychiatrists should be aware of the important risk factors for B12 deficiency and should be able to identify symptoms of B12 deficiency, which requires prompt testing, medical workup, and treatment. Testing for B12 deficiency should be considered for atypical or severe psychiatric presentations.


Subject(s)
Dietary Supplements , Mental Disorders , Vitamin B 12 Deficiency , Vitamin B 12 , Humans , Vitamin B 12 Deficiency/drug therapy , Vitamin B 12/therapeutic use , Mental Disorders/drug therapy
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.
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
13.
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.
Lancet ; 403(10435): 1449-1450, 2024 Apr 13.
Article in English | MEDLINE | ID: mdl-38614485
17.
J Pediatr Endocrinol Metab ; 37(4): 380-386, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38436354

ABSTRACT

OBJECTIVES: Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, and molecular findings, as well as long-term outcomes, were collected. CASE PRESENTATION: Mutation analysis revealed one unreported pathogenic variant in the TCN2 gene. One patient had exocrine pancreatic insufficiency. We conducted a retrospective analysis of C3 and C3/C2 from dried blood samples, as this is implemented for newborn screening (NBS). We detected a marked increase in the C3/C2 ratio in two samples. Treatment was based on parenteral Cbl. Three patients treated before six months of age had an initial favorable outcome, whereas the two treated later or inadequately had neurological impairment. CONCLUSIONS: This is the first report of Argentinean patients with TC deficiency that detected a new variant in TCN2. NBS may be a tool for the early detection of TC deficiency. This data emphasizes that TC deficiency is a severe disorder that requires early detection and long-term, aggressive therapy. Accurate diagnosis is imperative, because early detection and treatment can be life-saving.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Anemia, Macrocytic , Vitamin B 12 Deficiency , Infant, Newborn , Humans , Vitamin B 12/therapeutic use , Transcobalamins/genetics , Retrospective Studies , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/drug therapy , Vitamin B 12 Deficiency/genetics , Amino Acid Metabolism, Inborn Errors/drug therapy , Early Diagnosis
18.
Clin Nutr ; 43(4): 1025-1032, 2024 04.
Article in English | MEDLINE | ID: mdl-38527394

ABSTRACT

BACKGROUND & AIMS: While vitamin B12 (B12) deficiency is considered as the hallmark of pernicious anemia (PA), iron deficiency (ID) is also prevalent. Indeed, this auto immune gastritis is responsible for parietal cell atrophy and increase in gastric pH, leading to impaired iron absorption. We compared PA patients' features according to their iron status at PA diagnosis, and we assessed the iron status recovery after oral or intravenous iron supplementation. METHODS: We prospectively included patients presenting with a newly diagnosed PA in a tertiary referral hospital between November 2018 and October 2020. Iron status was assessed at PA diagnosis then regularly during a standardized follow-up. In case of ID, the decision of treatment with oral and/or intravenous iron supplementation was left to the clinician convenience. RESULTS: We included 28 patients with newly diagnosed PA. ID was observed in 21/28 (75.0%) patients: from the PA diagnosis in 13 patients, or during the follow-up in 8 patients. Iron deficient PA patients had higher plasma B12 (p = 0.04) and lower homocysteine levels (p = 0.04). Also, ID was independently associated with the 'APCA (anti-parietal cell antibodies) alone' immunological status (absence of anti-intrinsic factor antibodies) after adjustment for age, gender and B12 level (aOR 12.1 [1.1-141.8], p = 0.04). High level of APCA was associated with lower ferritin level. After 3 months of supplementation, 3/11 PA patients normalized the iron status with oral iron supplementation, versus 7/8 with intravenous iron supplementation (p = 0.02). CONCLUSION: The high frequency of iron deficiency in PA highlights the interest of regular assessment of iron status in this condition. ID was associated with a profile including APCA alone and less pronounced B12 deficiency. Intravenous iron supplementation seemed to be more efficient than an oral supplementation in these preliminary data.


Subject(s)
Anemia, Pernicious , Iron Deficiencies , Vitamin B 12 Deficiency , Humans , Anemia, Pernicious/complications , Anemia, Pernicious/drug therapy , Iron , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/drug therapy , Preliminary Data , Vitamin B 12/therapeutic use , Autoantibodies , Dietary Supplements
19.
Eur J Paediatr Neurol ; 49: 106-112, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38484414

ABSTRACT

BACKGROUND: Narcolepsy, a chronic neurologic sleep disorder, has sparked growing interest in the potential role of vitamin B12 in its pathogenic mechanism. However, research on this association has predominantly focused on adults. Our objective was to delineate the phenotypic and genetic connections between serum vitamin B12 levels and paediatric narcolepsy. METHODS: To investigate the causal relationship between vitamin B12 and paediatric narcolepsy, we conducted a retrospective analysis involving 60 narcolepsy patients and a matched control group. Univariate and multivariate logistic regression models were employed to identify independent factors influencing paediatric narcolepsy. Furthermore, a bidirectional two-sample Mendelian randomization (MR) analysis was performed to assess the causal connection between serum vitamin B12 levels and narcolepsy. RESULTS: Paediatric narcolepsy patients showed significantly lower serum levels of vitamin B12 and folate compared to the control group (P < 0.05). Multivariate logistic regression analysis identified serum vitamin B12 as the exclusive independent factor influencing paediatric narcolepsy (P < 0.001; OR = 0.96; 95%CI: 0.94-0.98). Additionally, IVW model results provided compelling evidence supporting a potential causal association between serum vitamin B12 levels and paediatric narcolepsy (OR: 0.958, 95% CI = 0.946-0.969, P = 0.001). CONCLUSION: This study establishes connections at both phenotypic and genetic levels, associating vitamin B12 deficiency with an increased risk of paediatric narcolepsy. These findings provide innovative perspectives for clinical strategies in the prevention and treatment of narcolepsy.


Subject(s)
Mendelian Randomization Analysis , Narcolepsy , Vitamin B 12 Deficiency , Vitamin B 12 , Humans , Narcolepsy/genetics , Narcolepsy/blood , Narcolepsy/epidemiology , Female , Male , Child , Vitamin B 12 Deficiency/genetics , Vitamin B 12 Deficiency/blood , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/epidemiology , Vitamin B 12/blood , Cross-Sectional Studies , Retrospective Studies , Adolescent , Child, Preschool , Folic Acid/blood
20.
Int J Hematol ; 119(5): 613-616, 2024 May.
Article in English | MEDLINE | ID: mdl-38526684

ABSTRACT

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common among children with ASD because of their persnickety nature. A prolonged unbalanced diet results in an increased risk of several diseases, such as iron deficiency anemia, scurvy, rickets, dry eye, and Wernicke encephalopathy. However, no cases of megaloblastic anemia have been reported to date. We report the case of an 11-year-old boy with ASD who developed megaloblastic anemia due to vitamin B12 deficiency. He had a prolonged history of selective eating for more than 10 years. His nutritional status on admission was poor, and he had low weight and short stature. His food selectivity was so strong that intervention to expand diet variety was unsuccessful. A developmental-behavioral pediatrician found that the patient had visual dominance and could take some medications when suffering from a minor illness. Nutritional supplements were selected after consultation with a nutritionist. Although compulsory treatment was necessary during the acute phase, the therapy was continued at home. With multidisciplinary intervention tailored to the patient and his parents' characteristics, his nutritional status improved in a few months.


Subject(s)
Anemia, Megaloblastic , Autism Spectrum Disorder , Vitamin B 12 Deficiency , Humans , Male , Child , Anemia, Megaloblastic/etiology , Autism Spectrum Disorder/complications , Vitamin B 12 Deficiency/complications , Diet , Dietary Supplements
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