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Continuum (Minneapolis, Minn.) Feb 2021This article describes the clinical presentation, relevant diagnostic investigations, and treatment of metabolic and toxic myelopathies. (Review)
Review
PURPOSE OF REVIEW
This article describes the clinical presentation, relevant diagnostic investigations, and treatment of metabolic and toxic myelopathies.
RECENT FINDINGS
Metabolic myelopathies, including those due to deficiency of vitamin B12, folate, copper, or vitamin E, are preventable and typically respond to supplementation. In metabolic myelopathy, early recognition and treatment are important to reduce morbidity, particularly due to subacute combined degeneration of the spinal cord. Toxic myelopathies, including those due to medical interventions (eg, methotrexate, radiation), dietary toxins (eg, lathyrism, konzo), and drugs of abuse (eg, heroin), typically result in permanent neurologic deficits. Toxic myelopathy due to hepatic dysfunction may be reversible if patients receive early intervention, whereas nitrous oxide myelopathy responds to vitamin B12 replacement and cessation of exposure. In toxic myelopathy, it is best to avoid the provoking factor when possible or attempt to mitigate risk by identifying risk factors for developing myelopathy.
SUMMARY
Metabolic and toxic myelopathies are important causes of morbidity that require a high index of suspicion for diagnosis.
Topics: Copper; Humans; Spinal Cord Diseases; Vitamin B 12 Deficiency
PubMed: 33522740
DOI: 10.1212/CON.0000000000000963 -
BMC Pediatrics Sep 2021We looked at existing recommendations and supporting evidence on the effectiveness of vitamin D supplementation in infancy for reducing vitamin D deficiency and for... (Review)
Review
We looked at existing recommendations and supporting evidence on the effectiveness of vitamin D supplementation in infancy for reducing vitamin D deficiency and for preventing rickets and infections. We also looked at optimal dose of vitamin D and the age until which vitamin D supplementation is beneficial.We conducted a literature search up to the 17th of July 2019 by using key terms and manual search in selected sources. We summarized the recommendations and the strength of the recommendation when and as reported by the authors. We summarized the main findings of systematic reviews with the certainty of the evidence as reported.A daily dose of 400 international units of vitamin D in infants has shown to be effective for improving bone health and preventing rickets. Evidence is more robust in groups of infants and children at risk. Vitamin D supplementation is well tolerated, and not associated with toxicity. Higher doses have not shown to add benefit while it could potentially cause toxic blood levels and hypercalcemia. Adequate levels of vitamin D might not be achieved with lower daily doses. Universal vitamin D supplementation starting shortly after birth, regardless of the mode of feeding and until 12 months of age, is strongly recommended. Beyond 12 months of age vitamin D supplementation is recommended only in groups of children at risk.
Topics: Child; Dietary Supplements; Humans; Infant; Rickets; Systematic Reviews as Topic; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 34496802
DOI: 10.1186/s12887-021-02776-z -
JAMA Feb 2024
Topics: Humans; Pellagra; Medicine in the Arts; Portraits as Topic; History, 20th Century; Paintings
PubMed: 38214915
DOI: 10.1001/jama.2023.27716 -
Current Pharmaceutical Design 2018The issue of vitamin deficiency persists to be a major health issue worldwide despite the advancements in medicine. At the same time, the effect of marginal vitamin... (Review)
Review
The issue of vitamin deficiency persists to be a major health issue worldwide despite the advancements in medicine. At the same time, the effect of marginal vitamin deficiency status on physiological processes is proven. However, general methods such as immune-enzyme and fluorescence analysis, microbiological assays, for example, have limitations in vitamin status assessment and are not able to reliably reflect personal vitamin demand. The potential usefulness of modern metabolomics methods in vitamin status assessment is described in this review. These methods can be used for vitamin metabolites detection as well as for comprehensive metabolic phenotyping that makes them even more valuable.
Topics: Avitaminosis; Humans; Metabolomics; Vitamins
PubMed: 30207224
DOI: 10.2174/1381612824666180912142743 -
Nederlands Tijdschrift Voor Geneeskunde Mar 2023Scurvy is taught in history class and most doctors consider it a disease of the past. However, several studies show that vitamin C deficiency is highly prevalent among...
Scurvy is taught in history class and most doctors consider it a disease of the past. However, several studies show that vitamin C deficiency is highly prevalent among alcoholics, but also in elderly, people with low socioeconomic status, mental disorders or a restricted diet (7.1 - 25%). Besides the classical signs of scurvy, individuals exhibit a wide variety of symptoms. We present three recent cases of patients with vitamin C deficiency, with symptoms of bleeding, lethargy and edema, in whom supplementation greatly improved symptoms. As our cases illustrate having a high suspicion of scurvy and starting ascorbic acid might be a low cost and very effective intervention.
Topics: Humans; Aged; Scurvy; Ascorbic Acid; Ascorbic Acid Deficiency; Mental Disorders
PubMed: 36988932
DOI: No ID Found -
Nursing Standard (Royal College of... Aug 2023Vitamin D deficiency is prevalent among various groups in the UK, and can result from insufficient sunlight exposure and dietary intake. There is a population-wide...
Vitamin D deficiency is prevalent among various groups in the UK, and can result from insufficient sunlight exposure and dietary intake. There is a population-wide recommendation of 10 micrograms (400 international units) of vitamin D per day, with a daily supplement advised. However, supplement use is often suboptimal, compounding the risk of deficiency. Long-term vitamin D deficiency can cause rickets in children and osteomalacia or osteoporosis in adults. Therefore, it is important that nurses recognise which groups are at increased risk of vitamin D deficiency and understand how to assess people's vitamin D status. Nurses also need to be able to support the prevention and treatment of low vitamin D levels, which typically involves supplementation and lifestyle changes.
Topics: Child; Adult; Humans; Vitamin D Deficiency; Vitamin D; Rickets; Vitamins; Dietary Supplements
PubMed: 37519156
DOI: 10.7748/ns.2023.e12136 -
International Journal of Laboratory... Apr 2022In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be... (Review)
Review
In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be provided. However, the focus of this review is the classic and unique features of MA in blood and bone marrow. Acquired MA is a benign disorder for many, but can be detrimental for some. The clinical presentation can vary considerably, and the spectrum of symptoms and signs is diverse and quite broad. Prompt recognition and therapy are critical to prevent potential irreversible damage and clinical sequelae, especially in patients with vitamin B deficiency. A delay in diagnosis of vitamin B deficiency can result in significant neurologic sequelae that may not fully resolve with treatment, including in neonates and young infants. The blood and bone marrow features in MA can closely mimic thrombocytopenic purpura, myelodysplasia, and other myeloid neoplasms. Both pancytopenia and normal MCV at presentation are common in MA and raise unique challenges for the diagnostician. Partially treated MA is also a significant diagnostic "trap". MA is highly responsive to treatment, and patients tend to improve rapidly upon treatment initiation. However, the broad range of clinical and hematologic features makes the rapid, successful diagnosis of MA a unique challenge for the hematopathologist. Even in the era of state-of-the-art laboratory testing, a high suspicion is required.
Topics: Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 34981651
DOI: 10.1111/ijlh.13789 -
Expert Review of Endocrinology &... 2023Vitamin D deficiency affects from 10% to 50% in various pediatric population groups and causes life-threatening hypocalcemia in infants, crippling rickets in infants and... (Review)
Review
INTRODUCTION
Vitamin D deficiency affects from 10% to 50% in various pediatric population groups and causes life-threatening hypocalcemia in infants, crippling rickets in infants and children, and increased risk of subsequent adult metabolic and neurologic problems.
AREAS COVERED
An English language literature search of PubMed was performed since 1940 as were the authors' personal literature collections. References identified in the reviewed literature are considered.
DIAGNOSIS
The diagnosis of vitamin D deficiency is based on serum 25-hydroxyvitamin D levels. Clinical features of rickets include bone deformities and elevated alkaline phosphatase. Most children and adolescents who are biochemically vitamin D deficient do not have specific symptoms or signs of deficiency.
PREVENTION
Prevention of vitamin D deficiency is via exposure to sunshine, food and beverage fortification, and dietary supplementation.
TREATMENT
Effective treatment of vitamin D deficiency is via oral or injectable administration of vitamin D. Dosing and duration of vitamin D therapy have been described for healthy children and for children with underlying medical conditions, but recommendations vary.
EXPERT OPINION
Further investigation is needed to determine long-term non-skeletal effects of childhood vitamin D deficiency, benefits of supplementation in asymptomatic individuals with biochemical vitamin D deficiency, and appropriate screening for vitamin D deficiency in asymptomatic children and adolescents.
Topics: Infant; Adolescent; Child; Humans; Vitamin D Deficiency; Rickets; Vitamin D; Hypocalcemia; Treatment Outcome
PubMed: 37861060
DOI: 10.1080/17446651.2023.2270053 -
Best Practice & Research. Clinical... Mar 2024Vitamin D is mainly produced in the skin (cholecalciferol) by sun exposure while a fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further... (Review)
Review
Vitamin D is mainly produced in the skin (cholecalciferol) by sun exposure while a fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further processed to 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D (calcitriol) in the liver and kidneys, respectively. Calcitriol is the active form which mediates the actions of vitamin D via vitamin D receptor (VDR) which is present ubiquitously. Defect at any level in this pathway leads to vitamin D deficient or resistant rickets. Nutritional vitamin D deficiency is the leading cause of rickets and osteomalacia worldwide and responds well to vitamin D supplementation. Inherited disorders of vitamin D metabolism (vitamin D-dependent rickets, VDDR) account for a small proportion of calcipenic rickets/osteomalacia. Defective 1α hydroxylation of vitamin D, 25 hydroxylation of vitamin D, and vitamin D receptor result in VDDR1A, VDDR1B and VDDR2A, respectively whereas defective binding of vitamin D to vitamin D response element due to overexpression of heterogeneous nuclear ribonucleoprotein and accelerated vitamin D metabolism cause VDDR2B and VDDR3, respectively. Impaired dietary calcium absorption and consequent calcium deficiency increases parathyroid hormone in these disorders resulting in phosphaturia and hypophosphatemia. Hypophosphatemia is a common feature of all these disorders, though not a sine-qua-non and leads to hypomineralisation of the bone and myopathy. Improvement in hypophosphatemia is one of the earliest markers of response to vitamin D supplementation in nutritional rickets/osteomalacia and the lack of such a response should prompt evaluation for inherited forms of rickets/osteomalacia.
Topics: Humans; Calcitriol; Receptors, Calcitriol; Osteomalacia; Vitamin D Deficiency; Familial Hypophosphatemic Rickets; Rickets; Vitamin D; Vitamins
PubMed: 38365463
DOI: 10.1016/j.beem.2024.101876 -
Sub-cellular Biochemistry 2018Vitamin B contributes to the overall health and wellbeing, including that of energy metabolism, methylation, synthesis and DNA repair and proper immune function.... (Review)
Review
Vitamin B contributes to the overall health and wellbeing, including that of energy metabolism, methylation, synthesis and DNA repair and proper immune function. Deficiency in B vitamins has been linked to neurocognitive disorders, mitochondrial dysfunction, immune dysfunction and inflammatory conditions. In ageing populations B vitamin deficiency has been linked to cardiovascular disorders, cognitive dysfunction, osteoporosis and methylation disorders and can increase the risk of developing degenerative diseases, particularly cardiovascular disease, cognitive diseases and osteoporosis. Optimization of B vitamin status in the elderly may prove beneficial in the prevention of degenerative diseases. Here we discuss broadly the role of B vitamins in ageing.
Topics: Aging; Humans; Vitamin B Complex; Vitamin B Deficiency
PubMed: 30779018
DOI: 10.1007/978-981-13-2835-0_15