Yonsei medical journal
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This study aimed to present our experiences with a precise surgical strategy for sacrectomy. ⋯ In surgical resection of sacral tumors, the surgical approach depends on the size, location, extension, and pathology of the tumors. The recommended treatment option for sacral tumors is to remove as much of the tumor as possible. The level of root sacrifice is a predicting factor for postoperative neurologic functional impairment and the potential for morbidity. Pre-operative angiography and embolization are recommended to prevent excessive bleeding during surgery. Spinopelvic reconstruction must be considered following a total or high sacrectomy or sacroiliac joint removal.
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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.