Yonsei medical journal
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Yonsei medical journal · Apr 2021
Case ReportsKetogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation.
Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delays and infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant with a de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implemented at an age less than 2 months. On the day of his birth, the infant presented with a pattern of convulsions with dozens of episodes per day. ⋯ The infant's seizures decreased significantly with a combination of KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of an illness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associated with SCN2A mutation.
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Yonsei medical journal · Apr 2021
ReviewSerological Biomarkers and Indices for the Current Activity and Prognosis of ANCA-Associated Vasculitis: Experience in a Single Centre in Korea.
Small vessel vasculitis is composed of two types of vasculitis based on immune-complex deposits, immune-complex vasculitis and antineutrophil cytoplasmic antibody-associated vasculitis (AAV) according to the 2012 Chapel Hill Consensus Conferences Nomenclature of Vasculitis. In general, the current disease-states are assessed in three ways in real clinical practice such as activity, damage and functional status. Birmingham vasculitis activity score (BVAS, version 3) and five-factor score were calculated for assessing the cross-sectional activity and for predicting the prognosis of AAV, respectively. ⋯ It is practically difficult to discover new biomarkers or indices that exceed the reliability of AAV-specific indices or acute-phase reactants established by long clinical experience. However, efforts to discover and develop new biomarkers or indices are expected to complement the clinical unmet need of existing AAV-specific indices and acute-phase reactants. In this review, we reviewed the serological biomarkers and indices that have been reported to date and introduced studies that investigated serological biomarkers and indices in Korean patients with AAV.
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Yonsei medical journal · Apr 2021
Multicenter StudyDifferent Seasonal Variations of Potassium in Hemodialysis Patients with High Longitudinal Potassium Levels: A Multicenter Cohort Study Using DialysisNet.
To determine seasonal variations in serum potassium levels among hemodialysis patients. ⋯ Different seasonal patterns of serum potassium were identified in the moderate and high potassium groups, with potassium levels being significantly higher in the summer season in the high potassium group and in winter for the moderate potassium group.
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Yonsei medical journal · Apr 2021
Antimicrobial Susceptibility Trends of Streptococcus pneumoniae by Age Groups Over Recent 10 Years in a Single Hospital in South Korea.
Streptococcus pneumoniae (S. pneumoniae) causes respiratory tract infections. Its non-vaccine serotypes and multidrug-resistant pneumococcal diseases have increased during the post-pneumococcal vaccination era. Therefore, it is important to understand the regional and age-related antimicrobial susceptibility of S. pneumoniae to select appropriate empirical antimicrobials. ⋯ Erythromycin and ceftriaxone resistance rates and the MDR rate of S. pneumoniae significantly increased during the recent 10 years; the trends in individual antimicrobial resistance rates significantly differed between the age groups. This study indicates the need for caution when using ceftriaxone as an empirical antimicrobial against pneumococcal infections.
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Yonsei medical journal · Apr 2021
Changes in Cardiovascular Health Status and Risk of Sudden Cardiac Death in Older Adults.
Cardiovascular health (CVH) status is associated with several cardiovascular outcomes; however, correlations between changes in CVH status and risk of sudden cardiac death (SCD) are unknown. We aimed to evaluate associations between changes in CVH status and risk of SCD and all-cause death in older adults. ⋯ Maintaining a high CVH status was associated with future risks of SCD and all-cause death among an older adult population.