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Omega-3 PUFAs and vitamin D co-supplementation as a safe-effective therapeutic approach for core symptoms of autism spectrum disorder: case report and literature review.
Infante, M, Sears, B, Rizzo, AM, Mariani Cerati, D, Caprio, M, Ricordi, C, Fabbri, A
Nutritional neuroscience. 2020;(10):779-790
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Abstract
Introduction: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by abnormal development of cognitive, social, and communicative skills. Although ASD aetiology and pathophysiology are still unclear, various nutritional factors have been investigated as potential risk factors for ASD development, including omega-3 polyunsaturated fatty acids (PUFAs) and vitamin D deficiency. In fact, both omega-3 PUFAs and vitamin D are important for brain development and function. Case report: Herein, we report the case of a 23-year-old young adult male with autism who was referred to our Unit due to a 12-month history of cyclic episodes of restlessness, agitation, irritability, oppositional and self-injurious behaviours. Laboratory tests documented a markedly altered omega-6/omega-3 balance, along with a vitamin D deficiency, as assessed by serum levels of 25-hydroxyvitamin D. Omega-3 and vitamin D co-supplementation was therefore started, with remarkable improvements in ASD symptoms throughout a 24-month follow-up period. A brief review of the literature for interventional studies evaluating the efficacy of omega-3 or vitamin D supplementation for the treatment of ASD-related symptoms is also provided. Conclusion: To our knowledge, this is the first case reporting remarkable beneficial effects on ASD symptoms deriving from omega-3 and vitamin D combination therapy. This case report suggests omega-3 and vitamin D co-supplementation as a potential safe-effective therapeutic strategy to treat core symptoms of ASD. However, larger studies are needed to evaluate the real efficacy of such therapeutic approach in a broader sample of ASD patients.
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[Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review].
Cao, Q, Li, GM, Xu, H, Shen, Q, Sun, L, Fang, XY, Liu, HM, Guo, W, Zhai, YH, Wu, BB
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2017;(2):135-138
Abstract
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia. Extra-renal manifestations included cardiovascular abnormality, motor and mental retardation and unilateral ptosis. The patient had no consanguinity. A novel homozygous p. R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing, respectively. Family analysis showed that homozygous p. R360W mutation in COQ6 gene was inherited from his parents. Missense p. R360W mutation was damaging by prediction online PolyPhen and SIFT software. After 2 months of CoQ(10) complementary therapy, the patient's urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months. Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up. Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years. (2) There were 6 different mutations in coenzyme Q(10) biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping in the whole world. Each mutation was linked to early-onset SRNS with sensorineural deafness. Renal biopsy revealed FSGS in 7 cases and DMS in 1 case. Other manifestations included ataxia, seizures, facial dysmorphism, nephrolithiasis and growth retardation. Four patients received CoQ(10) supplementation and responded to the treatment. Conclusion: Renal disease caused by recessive COQ6 gene mutation was nephrotic syndrome. The patient benefited from early CoQ(10) complement and reached nephropathy remission.
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Nutrients and Neurology.
Kumar, N
Continuum (Minneapolis, Minn.). 2017;(3, Neurology of Systemic Disease):822-861
Abstract
PURPOSE OF REVIEW This article provides an update on the clinical presentation and management of neurologic disease related to key nutrient deficiencies. RECENT FINDINGS Major advances have been made in understanding the pathway related to vitamin B12 absorption and distribution. It is now known that deficiencies of vitamin B12 and copper have similar neurologic manifestations. Bariatric surgery is a risk factor for both. Alcoholism is just one of the many causes of thiamine deficiency. Early neurologic complications following bariatric surgery are often due to thiamine deficiency. Encephalopathy in the setting of alcoholism that persists despite thiamine replacement should prompt consideration of niacin deficiency. Pyridoxine deficiency and toxicity both have neurologic sequelae. Vitamin D deficiency and the risk for multiple sclerosis has been an area of ongoing research. SUMMARY Optimal functioning of the nervous system is dependent on a constant supply of certain vitamins and nutrients. This article discusses neurologic manifestations related to deficiency of these key nutrients.
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Optical Coherence Tomography Assessment Before and After Vitamin Supplementation in a Patient With Vitamin A Deficiency: A Case Report and Literature Review.
Saenz-de-Viteri, M, Sádaba, LM
Medicine. 2016;(6):e2680
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Abstract
Vitamin A is an essential fat-soluble vitamin important for the function of various body systems. In the eye, vitamin A is essential for the synthesis of visual pigments in photoreceptors. Vitamin A deficiency is a rare condition in the developed countries and might follow bariatric or intestinal bypass surgery.We present the case of a 67-year-old male that complained of visual loss and nyctalopia. Patient had bariatric surgery 15 years before for weight loss. Low serum levels of vitamin A confirmed the diagnosis and patient started vitamin A supplementation. Visual fields, macular thickness, and ganglion cell layer thickness were recorded and monitored 1 month, 6 months, and 1 year after the beginning of therapy. Visual fields were significantly altered and central macular thickness and ganglion cell layer thickness were reduced, but the first 2 showed a significant recovery with vitamin supplementation therapy. By the 1st month of treatment patient referred a complete remission of visual symptoms. Further, we observed hyperreflective material accumulating beneath a partially disrupted ellipsoid band in the high definition optical coherence tomography that also improved progressively with vitamin repletion.Newer and more sophisticated imaging systems have increased our knowledge of the mechanisms responsible for retinal diseases. To our knowledge, this is the first description of the effect of vitamin A deficiency and vitamin supplementation on macular thickness. This case also highlights the importance of considering bariatric bypass surgery as a cause of vitamin A deficiency in developed countries.
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Remission of Severe Myasthenia Gravis After Massive-Dose Vitamin D Treatment.
Cadegiani, FA
The American journal of case reports. 2016;:51-4
Abstract
BACKGROUND Vitamin D has been shown to be related to autoimmune diseases, such as multiple sclerosis and psoriasis. Correlations have been reported between vitamin D levels and prevalence and severity of other autoimmune disorders, and also between vitamin D therapy and disease improvement and remission. CASE REPORT This is a case report of a patient with severe and refractory myasthenia gravis (MG) who followed a "high-dose vitamin D treatment", a massive-dose treatment (80,000 to 120,000 IU/day) promoted by a medical center in Brazil (but still not proven), and she had her first complete remission after this type of treatment with increased vitamin D serum levels (400 to 700 ng/mL). CONCLUSIONS This case report may reinforce the reported correlation between vitamin D level and disease severity and introduces a possible new use for vitamin D as a potential target for treating autoimmune diseases. We recommend large, double-blind, placebo-controlled, randomized studies using high-dose vitamin D treatment for refractory autoimmune diseases to reliably assess this pharmacotherapy target for these diseases.
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Iatrogenic vitamin D toxicity in an infant--a case report and review of literature.
Ketha, H, Wadams, H, Lteif, A, Singh, RJ
The Journal of steroid biochemistry and molecular biology. 2015;:14-8
Abstract
Public concern over vitamin D deficiency has led to widespread use of over the counter (OTC) vitamin D (-D3 or -D2) supplements, containing up to 10,000 IU/unit dose (400 IU=10μg). Overzealous use of such supplements can cause hypercalcemia due to vitamin D toxicity. Infants are particularly vulnerable to toxicity associated with vitamin D overdose. OTC supplements are not subject to stringent quality control regulations from FDA and high degree of variability in vitamin D content in OTC pills has been demonstrated. Other etiologies of vitamin D induced hypercalcemia include hyperparathyroidism, granulomatous malignancies like sarcoidosis and mutations in the CYP24A1 gene. The differential diagnosis of hypercalcemia should include iatrogenic and genetic etiologies. C24-hydroxylation and C3-epimerization are two important biochemical pathways via which 25-hydroxyvitamin D3 (25(OH)D3) is converted to its metabolites, 24,25-dihydroxyvitamin D3 (24,25(OH)2D3) or its C3 epimer, 3-epi-25-OH-D3 respectively. Mutations in the CYP24A1 gene cause reduced serum 24,25(OH)2D3 to 25(OH)D3 ratio (<0.02), elevated serum 1,25-dihydroxyvitamin D (1,25(OH)2D3), hypercalcemia, hypercalciuria and nephrolithiasis. Studies in infants have shown that 3-epi-25(OH)D3 can contribute 9-61.1% of the total 25(OH)D3. Therefore, measurements of parathyroid hormone (PTH) and vitamin D metabolites 25(OH)D3, 1,25(OH)2D3, 3-epi-25(OH)D3 and 24,25(OH)2D3 are useful to investigate whether the underlying cause of vitamin D toxicity is iatrogenic versus genetic. Here we report a case of vitamin D3 associated toxicity in a 4-month-old female who was exclusively breast-fed and received an oral liquid vitamin D3 supplement at a dose significantly higher than recommended on the label. The vitamin D3 content of the supplement was threefold higher (6000 IU of D/drop) than listed on the label (2000 IU). Due to overdosing and higher vitamin D3 content, the infant received ∼50,000 IU/day for two months resulting in severe hypercalcemia, hypercalciuria and nephrocalcinosis. We also review the relevant literature on vitamin D3 toxicity in this report.
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Severe vitamin D deficiency in a patient with sickle cell disease: a case study with literature review.
Kaza, PL, Moulton, T
Journal of pediatric hematology/oncology. 2014;(4):293-6
Abstract
PURPOSE Vitamin D is essential for the normal absorption of calcium and to maintain calcium homeostasis. Vitamin D deficiency results in rickets, osteomalacia, and bony changes in the spine. Sickle cell disease patients are at an increased risk of vitamin D deficiency. CASE PRESENTATION We describe a case of severe vitamin D deficiency and response to vitamin D supplementation in a patient with sickle cell disease. CONCLUSIONS Currently, there are no recommendations for calcium and vitamin D supplementation in sickle cell patients. Vitamin D deficiency in these patients may be due to poor absorption.
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Effectiveness of the combination therapy with lisinopril, ivabradine and multivitamin supplementation in anthracycline-induced severe cardiotoxicity.
de Gregorio, C, Potenza, G, Ferraro, G
International journal of cardiology. 2014;(3):1374-6
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A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
Ferreira, F, Patel, V, Matts, S
BMJ case reports. 2014
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Abstract
Abetalipoproteinemia is a rare metabolic disorder that causes disturbed lipid absorption with consequent hypocholesterolaemia and liposoluble avitaminosis. The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in life expected manifestations include coagulopathy, myopathy, retinitis pigmentosa, peripheral neuropathy, hyporeflexia and ataxia. These neurological complications stem from demyelination secondary to vitamin E deficiency. Another complication is reduced fertility in women. In the event of a successful conception, issues arise in vitamin supplementation, the mainstay of treatment of abetalipoproteinemia. The skilful clinician must master the delicate balance between the teratogenic effects on the fetus of over as well as under replacement of vitamins, pregnancy complications such as premature rupture of membranes and eclampsia, and, finally, maternal complications such as corneal ulcers. We describe the management of a patient ranging from pubertal growth to bearing a successful spontaneous pregnancy with an outcome of a completely healthy mother and child.
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Vitamin D3 as a novel treatment for irritable bowel syndrome: single case leads to critical analysis of patient-centred data.
Sprake, EF, Grant, VA, Corfe, BM
BMJ case reports. 2012
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Abstract
Irritable bowel syndrome (IBS) is a chronic and debilitating functional disorder of the gastrointestinal tract with serious and detrimental impacts on quality of life. Its aetiology is largely unknown and the identification of effective management strategies remains far from complete. This paper first reports, a case of a 41-year-old woman IBS sufferer who reported significant symptom improvements with high-dose vitamin D3 supplementation. The sufferer identified a substantial body of patient data surrounding this potential therapy on social media sites, and this paper, therefore, also reports the findings from a systematic analysis of patient-centred, internet-based data surrounding this phenomenon. Data from 37 IBS sufferers commenting on the effect of vitamin D supplementation on their condition were located; approximately 70% of these reported that high-dose supplementation improved their IBS symptoms. A randomised controlled trial into the effect of vitamin D supplementation on IBS symptomatology to test this association scientifically is merited.