Yonsei medical journal
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Yonsei medical journal · Jan 2021
Case ReportsTwo Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. ⋯ We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
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Yonsei medical journal · Jan 2021
Randomized Controlled Trial Multicenter Study Comparative StudyComparison of Different Types of Oral Adsorbent Therapy in Patients with Chronic Kidney Disease: A Multicenter, Randomized, Phase IV Clinical Trial.
Oral adsorbents delay disease progression and improve uremic symptoms in patients with chronic kidney disease (CKD). DW-7202 is a newly developed oral adsorbent with high adsorptive selectivity for uremic toxins. We evaluated patient preference for and adherence to DW-7202 versus AST-120 therapy and compared treatment efficacy and safety in patients with pre-dialysis CKD. ⋯ DW-7202 can be considered as an alternative to AST-120 in patients who cannot tolerate or show poor adherence to granule type adsorbents. Further studies to evaluate factors affecting patient preferences and improved adherence are warranted (Clinical trial registration No. NCT02681952).
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Yonsei medical journal · Jan 2021
Clinical TrialEffectiveness of 4-Week Oral Taurine Treatment for Muscle Cramps in Patients with Liver Cirrhosis: A Single-Arm Pilot Study.
Painful muscle cramps are a common complication in liver cirrhosis patients, and no effective treatment is available. This pilot study aimed to evaluate whether taurine supplementation improves muscle cramps in Korean cirrhotic patients. ⋯ Oral taurine therapy for 4 weeks improved muscle cramps safely in cirrhotic patients.
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Yonsei medical journal · Jan 2021
Comparative StudyComparison of Liver Transplantation and Liver Resection for Hepatocellular Carcinoma Patients with Portal Vein Tumor Thrombus Type I and Type II.
The aim of this study was to compare the efficacy of liver transplantation (LT) and liver resection (LR) for hepatocellular carcinoma (HCC) patients with portal vein tumor thrombus (PVTT) and to investigate risk factors affecting prognosis. ⋯ LT appeared to afford a better prognosis for HCC with PVTT type I than LR, especially in patients with AFP levels >200 ng/mL.
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Yonsei medical journal · Jan 2021
Comparative StudyComparison of Allergenic Properties among Commercially Available House Dust Mite Allergen Extracts in Korea.
Precise allergy diagnosis and effective allergen specific immunotherapy are largely dependent on the quality of allergen extract. A new extract of Dermatophagoides farinae was commercially developed by Prolagen. The allergenic properties of the new extract were compared with those of other commercial products. ⋯ Endotoxin levels varied 8.9-fold (1020 to 8985 EU/mL). The newly developed house dust mite extract showed equal or better allergenic properties than available commercial extracts. This new product may be useful for better diagnostics and allergen-specific immunotherapeutics.