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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Lower-extremity Dynamometry as a Novel Outcome Measure in a Double-blind, Placebo-controlled, Feasibility Trial of Intravenous Immunoglobulin (IVIG) for HIV-associated Myelopathy
Conclusion: We conclude that an adequately powered clinical trial of IVIG for HIVM would likely require a prolonged recruitment period and multiple participating sites. Lower limb dynamometry is a useful outcome measure for HIVM, which might also be useful in other HIV-related gait disorders. KEYWORDS: Dynamometry, intravenous immunoglobulin (IVIG), human immunodeficiency virus (HIV), myelopathy INTRODUCTION Human immunodeficiency virus (HIV)-associated myelopathy (HIVM) is a rare but well-described neurologic complication of HIV; it was first described early in the acquired immunodeficiency syndrome (AIDS) epidemic, and i...
Source: Innovations in Clinical Neuroscience - February 1, 2018 Category: Neuroscience Authors: ICN Online Editor Tags: Assessment Tools Current Issue Demyelinating Disease Movement Disorders Neurodegenerative Disease Neurology Original Research Primary Care Technology Trial Methodology Dynamometry human immunodeficiency virus (HIV) intravenous immu Source Type: research