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IDH1/2 mutations in acute myeloid leukemia
Ja Min Byun,Seung-Joo Yoo,Hyeong-Joon Kim,Jae-Sook Ahn,Youngil Koh,Jun Ho Jang,Sung-Soo Yoon 대한혈액학회 2022 Blood Research Vol.57 No.1
The mutational and epigenetic landscape of acute myeloid leukemia (AML) has become increasingly well understood in recent years, informing on biological targets for precision medicine. Among the most notable findings was the recognition of mutational hot-spots in the isocitrate dehydrogenase (IDH) genes. In this review, we provide an overview on the IDH1/2 mutation landscape in Korean AML patients, and compare it with available public data. We also discuss the role of IDH1/2 mutations as biomarkers and drug targets. Taken together, occurrence of IDH1/2 mutations is becoming increasingly important in AML treatment, thus requiring thorough examination and follow-up throughout the clinical course of the disease.
Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Ahn, Kyung Jin,Yoon, Ja Kyoung,Kim, Gi Beom,Kwon, Bo Sang,Bae, Eun Jung,Noh, Chung Il The Korean Pediatric Society 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.no.sup1
Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit. The clinical symptoms are variable, and recognition in children with hypertension can aid early diagnosis and optimal treatment. Hypertension with MAS is malignant and often refractory to several antihypertensive drugs. Recently, radiologic modalities have been developed and have led to numerous interventional procedures. We describe the case of a 3-year-old boy presenting with left ventricular hypertrophy whose severely elevated blood pressure led to the diagnosis of idiopathic MAS. This case highlights the importance of measuring blood pressure and conducting a detailed physical examination to diagnose MAS. This is the first reported case of idiopathic MAS diagnosed in childhood in Korea.
( Ja Yoon Heo ),( Beom Kyung Kim ),( Jun Yong Park ),( Do Young Kim ),( Sang Hoon Ahn ),( Won Young Tak ),( Young Oh ),( Kweon ),( Kwang-hyub Han ),( Soo Young Park ),( Seung Up Kim ) 대한간학회 2019 Gut and Liver Vol.13 No.2
Background/Aims: Acoustic radiation force impulse (ARFI) elastography predicts the presence of esophageal varices (EVs). We investigated whether an ARFI-based prediction model can assess EV bleeding (EVB) risk in patients with cirrhosis. Methods: The records of 262 patients with cirrhosis who underwent ARFI elastography and endoscopic surveillance at two institutions in 2008 to 2013 were retrospectively reviewed, and ARFI-spleen diameter-to-platelet ratio scores (ASPS) were calculated. Results: The median patient age (165 men, 97 women) was 56 years. The median ARFI velocity, spleen diameter, platelet count, and ASPS were 1.7 m/sec, 10.1 cm, 145×109/L, and 1.16, respectively. During the median 38-month follow-up, 61 patients experienced EVB. Among all patients (179 without EVs and 83 with EVs), the cutoff value that maximized the sum of the sensitivity (73.1%) and specificity (78.4%) (area under receiver operating characteristic curve [AUROC], 0.824) for predicting EVB was 2.60. The cumulative EVB incidence was significantly higher in patients with ASPS ≥2.60 than in those with ASPS <2.60 (p<0.001). Among patients with EVs (n=83), 49 had high-risk EVs (HEVs), and 22 had EVB. The cumulative EVB incidence was significantly higher in HEV patients than in low-risk EV patients (p=0.037). At an ASPS of 4.50 (sensitivity, 66.7%; specificity, 70.6%; AUROC, 0.691), the cumulative EVB incidence was significantly higher in patients with a high ASPS than in those with a low ASPS (p=0.045). A higher ASPS independently predicted EVB (hazard ratio, 4.072; p=0.047). Conclusions: ASPS can assess EVB risk in patients with cirrhosis. Prophylactic management should be considered for patients with HEVs and ASPS ≥4.50. (Gut Liver 2019;13:206-214)
Interim result of autologous bone marrow cell infusion in patients with advanced Liver cirrhosis
( Ja Kyung Kim ),( Young Nyun Park ),( Mee Sook Park ),( Myeong Jin Kim ),( Hyun Ok Kim ),( Jin Seok Kim ),( Yoo Hong Min ),( Kyung Sik Kim ),( Sang Hoon Ahn ),( Chae Yoon Chon ),( Kwang Hyub Han ) 대한간학회 2007 Clinical and Molecular Hepatology(대한간학회지) Vol.13 No.3(S)
A Case of Recurrent Superficial Acral Fibromyxoma
Ja Woong Goo,Ye Jin Jung,Jae Hong Kim,Sung Yul Lee,Sung Ku Ahn 대한피부과학회 2010 Annals of Dermatology Vol.22 No.1
Superficial acral fibromyxoma (SAFM) is a rare myxoid tumor that was first described in 2001. The presence of a very slow growing solitary tender mass in the subungual area is the typical clinical feature at presentation. Histopathologically, SAFM is composed of stellate cells in a myxocollagenous matrix with a poorly circumscribed margin. This tumor is thought to be benign, but its natural course is not fully understood. We describe a 15-year-old patient with recurrent SAFM and discuss the proper treatment and follow up. (Ann Dermatol 22(1) 110∼113, 2010)