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      Corticosteroid-induced bradycardia in multiple sclerosis and maturity-onset diabetes of the young due to hepatocyte nuclear factor 4-alpha mutation: A case report

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          Abstract

          BACKGROUND

          Intravenous steroid pulse therapy is the treatment of choice for acute exacerbation of multiple sclerosis (MS). Although steroid administration is generally well-tolerated, cases of cardiac arrhythmia have been reported. Herein, we describe a young woman who developed marked sinus bradycardia and T-wave abnormalities after corticosteroid administration. We also present plausible explanations for the abnormalities observed in this patient.

          CASE SUMMARY

          An 18-year-old woman experienced vertiginous dizziness and binocular diplopia 1 wk prior to admission. Neurological examination revealed left internuclear ophthalmoplegia with left peripheral-type facial palsy. The initial laboratory results were consistent with those of type 2 diabetes. Brain magnetic resonance imaging revealed multifocal, non-enhancing, symptomatic lesions and multiple enhancing lesions. She was diagnosed with MS and maturity-onset diabetes of the young. Intravenous methylprednisolone was administered. On day 5 after methylprednisolone infusion, marked bradycardia with T-wave abnormalities were observed. Genetic evaluation to elucidate the underlying conditions revealed a hepatocyte nuclear factor 4-alpha (HNF4A) gene mutation. Steroid treatment was discontinued under suspicion of corticosteroid-induced bradycardia. Her electrocardiogram changes returned to normal without complications two days after steroid discontinuation.

          CONCLUSION

          Corticosteroid-induced bradycardia may have a significant clinical impact, especially in patients with comorbidities, such as HNF4A mutations.

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          Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

          Sue Richards, Nazneen Aziz, Sherri Bale … (2015)
          The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.
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            Multiple sclerosis

            Sergio E. Baranzini, Bernhard Hemmer, Jeroen J.M. Geurts … (2018)
            Multiple sclerosis continues to be a challenging and disabling condition but there is now greater understanding of the underlying genetic and environmental factors that drive the condition, including low vitamin D levels, cigarette smoking, and obesity. Early and accurate diagnosis is crucial and is supported by diagnostic criteria, incorporating imaging and spinal fluid abnormalities for those presenting with a clinically isolated syndrome. Importantly, there is an extensive therapeutic armamentarium, both oral and by infusion, for those with the relapsing remitting form of the disease. Careful consideration is required when choosing the correct treatment, balancing the side-effect profile with efficacy and escalating as clinically appropriate. This move towards more personalised medicine is supported by a clinical guideline published in 2018. Finally, a comprehensive management programme is strongly recommended for all patients with multiple sclerosis, enhancing health-related quality of life through advocating wellness, addressing aggravating factors, and managing comorbidities. The greatest remaining challenge for multiple sclerosis is the development of treatments incorporating neuroprotection and remyelination to treat and ultimately prevent the disabling, progressive forms of the condition.
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              Inwardly rectifying potassium channels: their structure, function, and physiological roles.

              Hiroshi HIBINO, Atsushi Inanobe, Kazuharu Furutani … (2010)
              Inwardly rectifying K(+) (Kir) channels allow K(+) to move more easily into rather than out of the cell. They have diverse physiological functions depending on their type and their location. There are seven Kir channel subfamilies that can be classified into four functional groups: classical Kir channels (Kir2.x) are constitutively active, G protein-gated Kir channels (Kir3.x) are regulated by G protein-coupled receptors, ATP-sensitive K(+) channels (Kir6.x) are tightly linked to cellular metabolism, and K(+) transport channels (Kir1.x, Kir4.x, Kir5.x, and Kir7.x). Inward rectification results from pore block by intracellular substances such as Mg(2+) and polyamines. Kir channel activity can be modulated by ions, phospholipids, and binding proteins. The basic building block of a Kir channel is made up of two transmembrane helices with cytoplasmic NH(2) and COOH termini and an extracellular loop which folds back to form the pore-lining ion selectivity filter. In vivo, functional Kir channels are composed of four such subunits which are either homo- or heterotetramers. Gene targeting and genetic analysis have linked Kir channel dysfunction to diverse pathologies. The crystal structure of different Kir channels is opening the way to understanding the structure-function relationships of this simple but diverse ion channel family.
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                Author and article information

                Contributors
                Sung-Yeon Sohn
                Shin Yeop Kim
                In Soo Joo
                Journal
                Journal ID (nlm-ta): World J Clin Cases
                Journal ID (publisher-id): WJCC
                Title: World Journal of Clinical Cases
                Publisher: Baishideng Publishing Group Inc
                ISSN (Electronic): 2307-8960
                Publication date (Print): 26 July 2022
                Publication date (Electronic): 26 July 2022
                Volume: 10
                Issue: 21
                Pages: 7415-7421
                Affiliations
                Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, Suwon 16499, South Korea
                Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, Suwon 16499, South Korea
                Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, Suwon 16499, South Korea. isjoo@ 123456ajou.ac.kr
                Author notes

                Author contributions: Sohn S-Y conceptualized, investigated and wrote the manuscript; Kim SY investigated and reviewed the manuscript; Joo IS supervised, reviewed and edited the manuscript.

                Corresponding author: In Soo Joo, MD, Professor, Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, No.164 World Cup Road, Yongtong District, Suwon 16499, South Korea. isjoo@ 123456ajou.ac.kr

                Article
                Other ID: jWJCC.v10.i21.pg7415
                DOI: 10.12998/wjcc.v10.i21.7415
                PMC ID: 9353935
                SO-VID: 8ccb0950-4906-4f2e-90b0-054eeb7f38db
                Copyright © ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
                License:

                This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/

                History
                Date received : 24 September 2021
                Date revision received : 8 April 2022
                Date accepted : 4 June 2022
                Categories
                Subject: Case Report

                Keywords: steroids,bradycardia,multiple sclerosis,maturity-onset diabetes of the young,hepatocyte nuclear factor 4-alpha,case report
                Data availability:
                Keywords: steroids, bradycardia, multiple sclerosis, maturity-onset diabetes of the young, hepatocyte nuclear factor 4-alpha, case report

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