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Nutrition: Vitamins

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Total 92 results found since Jan 2013.

Current Diagnosis and Management of Abetalipoproteinemia
J Atheroscler Thromb. 2021 May 16. doi: 10.5551/jat.RV17056. Online ahead of print.ABSTRACTAbetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a vari...
Source: Journal of Atherosclerosis and Thrombosis - May 17, 2021 Category: Cardiology Authors: Manabu Takahashi Hiroaki Okazaki Ken Ohashi Masatsune Ogura Shun Ishibashi Sachiko Okazaki Satoshi Hirayama Mika Hori Kota Matsuki Shinji Yokoyama Mariko Harada-Shiba Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Dis Source Type: research

Intracranial Hemorrhage Secondary to Vitamin K Deficiency in X-linked Myotubular Myopathy
X-linked myotubular myopathy (XLMTM) is a congenital, centronuclear myopathy presenting at birth with facial anomalies, profound hypotonia, and respiratory muscle weakness leading to early respiratory failure. It is a rare disorder, estimated at 1 in 50,000 male births with a high mortality and modest 1-year survival between 25-64% [1-3]. While definitive data are not known, one study found that patients often died at around 7 years of age secondary to respiratory failure [1]. Patients with XLMTM typically experience multiple co-morbidities requiring extensive supportive care [2,3].
Source: Neuromuscular Disorders - May 11, 2021 Category: Neurology Authors: Jeremy M. Neese, Sabrina Yum, Susan Matesanz, Leslie J. Raffini, Hilary B. Whitworth, Kathleen M. Loomes, Oscar H. Mayer, Alicia M. Alcamo Tags: Case report Source Type: research

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia
We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride transfer protein gene, resulting in the absence of microsomal triglyceride transfer protein function in the small bowel. It is characterized by the absence of plasma apolipoprotein B-containing lipoproteins, fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy, myopathy, and acanthocytosis. A biopsy of the small intestine characteristically shows marke...
Source: Journal of Pediatric Hematology Oncology - March 31, 2021 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Bariatric surgery related proximal myopathy: A partially reversible complication
We report cases of five patients with morbid obesity who developed within 2 to 4 months of a BS, proximal myopathy following significant and rapid weight loss worsened by postoperative gastrointestinal complications. Muscle weakness concerned lower limbs in particular in quadriceps and less frequently in upper limbs and diaphragm, sometimes mimicked a Guillain-Barré syndrome. Muscle biopsy performed in 1 patient, revealed selective atrophy of type 2 fibers. Weakness slowly decreased with refeeding with vitamins supplementation. We enlarge here the clinical pattern of post-BS complications.PMID:33640114 | DOI:10.1016/j.neurol.2020.10.012
Source: Revue Neurologique - February 28, 2021 Category: Neurology Authors: M Brisset M C Durand A Iosif M Hanachi C Palazzo R-Y Carlier P Lafor êt G Nicolas Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition Source Type: research

Vitamin D supplementation rescues simvastatin induced myopathy in mice via improving mitochondrial cristae shape.
In conclusion, these findings suggested that moderate vitamin D supplementation rescued simvastatin induced myopathy via improving the mitochondrial cristae shape and function. PMID: 32479918 [PubMed - as supplied by publisher]
Source: Toxicology and Applied Pharmacology - May 28, 2020 Category: Toxicology Authors: Ren L, Xuan L, Han F, Zhang J, Gong L, Lv Y, Zhang W, Yang S, Xu B, Yan Y, Guo L, Liu H, Wan Z, Liu L Tags: Toxicol Appl Pharmacol Source Type: research

Effect of Vitamin D Analogue on Rosuvastatin-Induced Myopathy in Wistar Rats.
Conclusion: The present study shows that the vitamin D analogue alfacalcidol prevents statin-induced myopathy. The serum CK levels are comparable to the control group on day 15 of vitamin D administration. PMID: 32292293 [PubMed - in process]
Source: The Scientific World Journal - April 16, 2020 Category: Science Tags: ScientificWorldJournal Source Type: research

Phosphate Metabolism in Health and Disease
AbstractPhosphorus, a 5A element with atomic weight of 31, comprises just over 0.6% of the composition by weight of plants and animals. Three isotopes are available for studying phosphorus metabolism and kinetics.31P is stable, whereas the radioactive isotope33P has a half-life of 25  days and32P has a half-life of 14  days. Phosphate ester and phosphoanhydride are common chemical linkages and phosphorus is a key element in organic molecules involved in a wide variety of essential cellular functions. These include biochemical energy transfer via adenosine triphosphate (ATP), maintenance of genetic information wi th nucle...
Source: Calcified Tissue International - April 6, 2020 Category: Orthopaedics Source Type: research

An overview of statin-induced myopathy and perspectives for the future.
Authors: Nikolic D, Banach M, Chianetta R, Luzzu LM, Pantea Stoian A, Diaconu CC, Citarrella R, Montalto G, Rizzo M Abstract Introduction: Statins remain the most commonly prescribed lipid-lowering drug class for the treatment of atherosclerotic cardiovascular disease. Their well-recognized side effects are known as statin-associated muscle symptom (SAMS). Some advances in this field have been made in recent years, but the understanding of the mechanisms has lagged. Investigating the specific role of the anti-HMGCR autoantibody, pharmacokinetic genetic variants, characterization of the known phenotypes of statin to...
Source: Expert Opinion on Drug Safety - April 3, 2020 Category: Drugs & Pharmacology Tags: Expert Opin Drug Saf Source Type: research

Vitamin D serum level in subjects with critical illness polyneuropathy and myopathy.
CONCLUSION: Almost all subjects showed Vitamin D deficiency. No difference was detected between those with and without CIPNM. The condition might represent a secondary phenomenon resulting from the inflammatory process as well as from conditions that could interfere with vitamin D metabolism. PMID: 32131367 [PubMed - in process]
Source: Journal of Musculoskeletal Neuronal Interactions - March 6, 2020 Category: Neurology Tags: J Musculoskelet Neuronal Interact Source Type: research

Mitochondrial and Metabolic Myopathies
This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy. Over the past decade, advances in genetic testing have revolutionized patient evaluation. The main goal of this review is to give the clinician the basic understanding to recognize patients at risk of these diseases using the standard history and physical examination. RECENT FINDINGS Primary mitochondrial disease is the cur...
Source: CONTINUUM: Lifelong Learning in Neurology - December 1, 2019 Category: Neurology Tags: REVIEW ARTICLES Source Type: research

Searching for Atrial Fibrillation Poststroke: A White Paper of the AF-SCREEN International Collaboration.
H, Kirchhof P, Korompoki E, Krieger DW, Lip GYH, Løchen ML, Mairesse GH, Montaner J, Neubeck L, Ntaios G, Piccini JP, Potpara TS, Quinn TJ, Reiffel JA, Ribeiro ALP, Rienstra M, Rosenqvist M, Sakis T, Sinner MF, Svendsen JH, Van Gelder IC, Wachter R, Wijeratne T, Yan B Abstract Cardiac thromboembolism attributed to atrial fibrillation (AF) is responsible for up to one-third of ischemic strokes. Stroke may be the first manifestation of previously undetected AF. Given the efficacy of oral anticoagulants in preventing AF-related ischemic strokes, strategies of searching for AF after a stroke using ECG monitoring fol...
Source: Circulation - November 25, 2019 Category: Cardiology Authors: Schnabel RB, Haeusler KG, Healey JS, Freedman B, Boriani G, Brachmann J, Brandes A, Bustamante A, Casadei B, Crijns HJGM, Doehner W, Engström G, Fauchier L, Friberg L, Gladstone DJ, Glotzer TV, Goto S, Hankey GJ, Harbison JA, Hobbs FDR, Johnson LSB, Kame Tags: Circulation Source Type: research

Worsening of unrecognized tumor-induced osteomalacia with inadvertent use of recombinant human parathyroid hormone.
Conclusion Hypophosphatemia with teriparatide use is an oddity. Unexplained hypophosphatemia in a patient on teriparatide should make the physician think of hypophosphatemic osteomalacia. Serum phosphate levels should be estimated prior to teriparatide use and its use refrained in patients with unexplained hypophosphatemia. PMID: 31566250 [PubMed - as supplied by publisher]
Source: Endokrynologia Polska - September 29, 2019 Category: Endocrinology Authors: Pal R, Agrawal K, Gupta S, Bhansali A, Behera A, Bhadada SK Tags: Endokrynol Pol Source Type: research