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Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis
신상용,김훈구,김현영,김희진 연세대학교의과대학 2017 Yonsei medical journal Vol.58 No.3
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×109/L, and platelet count 195×109/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected. P50 (partial pressure at which Hb is half saturated with oxygen), which is an indicator of left-shift of oxygen dissociation curve (high oxygen affinity state), was 14.3 mm Hg (reference value 22.6–29.4 mm Hg). He was suspected to have CE. Mutation analysis of the HBB gene revealed the known Hb variant, Hb Heathrow [β103(G5)Phe→Leu]. This is the first report of Hb Heathrow in Asian.
신상용,정유회,이국행,강정구,Shin, Sang-Yong,Jung, Yu-Hoe,Lee, Kook-Heang,Kang, Jung-Koo 대한물리치료과학회 1999 대한물리치료과학회지 Vol.6 No.4
Objective: To investigate muscle strength after short term isotonic and isometric exercise. Method: Twenty two healthy men and women were randomly designed isometric and isotonic exercises. Each participant was asked to perform 10 sessions of isometric and isotonic exercises. The assessment measured pre and post 10 sessions exercises by Cybex 340. Result: Isometric exercise significantly increased by $60^{\circ}$/sec and isotonic exercise significantly increased by $120^{\circ}$/sec, $180^{\circ}$/sec. Isometric exercise and isotonic exercise increased by all speeds. Most increased at $120^{\circ}$/sec, $180^{\circ}$/sec by isometric exercise and $60^{\circ}$/see by isotonic exercise but not significantly. Conclusion: Short term isotonic and isometric exercise increase muscle strength. Even if the exercise session is short term, the sessions increase muscle strength.
신상용,박효순,채승완,우희연 대한진단검사의학회 2011 Annals of Laboratory Medicine Vol.31 No.3
Microangiopathic hemolytic anemia (MAHA) occurs occasionally as a paraneoplastic syndrome in some solid tumors, but MAHA accompanied by signet ring cell carcinoma of an unknown origin is very rare. In this study, we present the case of an 80-yr-old man who was admitted to the hospital because of a 1-month history of lower back pain and dyspnea. He was diagnosed with MAHA on the basis of the laboratory findings that revealed anemia with schistocytes, decreased haptoglobin levels, and a negative direct Coombs’ test. Bone marrow examination, which was performed because of the progression of anemia, revealed bone marrow metastases of signet ring cell carcinoma with extensive bone marrow necrosis. However, the primary origin of this signet ring cell carcinoma was not found. When the cause of progressive MAHA is unknown, the possibility of cancer-associated MAHA must be excluded by performing additional tumor workup, including the detection of tumor markers, gastric and colorectal endoscopic examinations, bone marrow examinations, and positron emission tomography-computed tomography or bone scans.