Diffusion-Weighted MR Neurography with Unidirectional Motion-Probing Gradient to Evaluate Lumbar Nerve Roots at 1.5T MR.

Purpose: Recent studies have demonstrated the usefulness of diffusion-weighted MR neurography (DW MRN) for assessing nerve roots. This study aimed to evaluate the utility of DW MRN with a unidirectional motion-probing gradient (MPG) for the lumbar nerve roots at 1.5T MR. Materials and Methods: Sixty-four lumbar spine MRI scans with DW MRN using anteroposterior unidirectional MPG were retrospectively analyzed. Any changes in the 512 lumbar spinal nerve roots from L3 to S1 were evaluated using T2-weighted imaging (T2WI), contrast-enhanced T1-weighted imaging (CE T1WI), and DW MRN, with agreement and correlation analysis. Results: T2WI revealed compression of 78 nerve roots, and CE T1WI revealed 52 instances of nerve root enhancement. Sixty-seven nerve roots showed swelling and hyperintensity on DW MRN. A total of 42 nerve roots showed changes in the CE T1WI and DW MRN sequences. Moderate to substantial agreement and moderate positive correlation were observed between DW MRN and CE T1WI, as well as DW MRN and T2WI (κ = 0.59-0.65, ρ = 0.600-0.653). Conclusion: DW MRN with unidirectional anteroposterior MPG can help evaluate neuritis-related changes in spinal nerve roots and could serve as a sequence capable of complementing or substituting gadolinium CE imaging.

Effect of recombinant human bone morphogenetic protein-2 and osteoprotegerin-Fc in MC3T3-E1 cells.

Objective: We compared the osteoblastogenesis by serially administrating recombinant human bone morphogenetic protein-2 (rhBMP-2) and osteoprotegerin-immunoglobulin Fc segment complex (OPG-Fc). Methods: The MC3T3-E1 preosteoblast cell line was differentiated for 1, 3, and 7 days with a treatment of OPG-Fc in 10~200 ng/mL concentration and the cell viability was evaluated by Cell Counting Kit-8 analysis. The level of differentiation from MC3T3-E1 cells to osteoblasts was determined by alkaline phosphatase activity. The level of runt domain-containing transcription factor 2 (Runx2) and osteopontin (OPN) manifestation, involved in osteoblast differentiation, was examined by real-time polymerase chain reaction and western blotting. Results: During MC3T3-E1 cell differentiation, the differentiation level was high with 1-day treatment using 100 ng/mL OPG-Fc. The treatment with 50 ng/mL rhBMP-2 for 7 days, followed by 1-day treatment with 100 ng/mL OPG-Fc produced the highest differentiation level, which was approximately 5.3 times that of the control group (p<0.05). The expression of Runx2 mRNA significantly increased, reaching 2.5 times the level of the control group under the condition of 7-day treatment with rhBMP-2 and 1-day treatment with OPG-Fc (p<0.001). The expression of Runx2 protein significantly increased to approximately 5.7 times that of the control group under the condition of 7-day treatment with rhBMP-2, followed by 1-day treatment with OPG-Fc (p<0.01). The expression of OPN protein showed no change from that of the control group under various conditions of rhBMP-2 and OPG-Fc combinations. Conclusion: These results imply that the treating preosteoblasts with rhBMP-2 first and then with OPG-Fc increased osteoblast differentiation efficacy.

Irreversible myocardial injury attenuates the benefits of sacubitril/valsartan in heart failure patients.

BACKGROUND: Despite the established benefits of angiotensin receptor-neprilysin inhibitor (ARNI) in heart failure with reduced ejection fraction (HFrEF) across various etiologies, there are controversies regarding the effects of ARNI in patients with irreversible myocardial injury. The aim of this study is to investigate the impact of irreversible myocardial injury on the benefits of ARNI treatment in patients with HFrEF, consisted of both ischemic and non-ischemic etiologies. METHODS AND RESULTS: We conducted a retrospective single-center study including 409 consecutive patients with HFrEF treated with ARNI between March 2017 and May 2020. Irreversible myocardial injury was defined as nonviable myocardium without contractile reserve, which suggests a limited potential for recovery of left ventricular function and geometry. At baseline, irreversible myocardial injury was observed in 129 (31.5%) patients. Composite outcome was cardiovascular death or hospitalization for heart failure, which occurred in 56 (43.4%) and 61 (21.8%) patients with and without irreversible myocardial injury, respectively. On multivariable analysis, irreversible injury presence, but not ischemic etiology, was an independent predictor of composite outcome (hazard ratio 2.16, 95% confidence interval 1.33-3.49). Mediation analysis revealed that the increased risk of the composite outcome due to irreversible myocardial injury was mediated by attenuated LV reverse remodeling (Z value = 2.02, P = 0.043). CONCLUSIONS: The presence of irreversible myocardial injury was significantly associated with the response to ARNI treatment in patients with HFrEF, regardless of etiology.

Geographical variation in cardiovascular disease mortality in Norway: The role of life course socioeconomic position and parental health.

Despite substantial geographical variation in cardiovascular (CVD) mortality within countries, little is known about whether this variation can be explained by individuals' life course socioeconomic position (SEP) or differences in family history of premature CVD deaths. Cox proportional hazards models were used to investigate the association between the county of residence at ages 50-59 and CVD death in Norwegians born between 1940 and 1959 and survived to at least age 60, using national data. Individual life course SEP and family history of premature CVD death reduced the geographical variation in CVD mortality across Norwegian counties, but some significant differences remained. Furthermore, CVD risk varied by residents' migration histories between two counties with distinct CVD and socioeconomic profiles.

Stroke survival and the impact of geographic proximity to family members: A population-based cohort study.

INTRODUCTION: Familial support may be important for post-stroke survival. OBJECTIVE: To determine if geographical proximity between stroke survivors and their family members, i.e having a spouse/partner or distance to a nearest first-degree relative (parents, siblings, and offspring), as a proxy for familial support, is related to survivor mortality. METHODS: This study included all stroke survivors (n=128,227) hospitalised in Norway from 1994 to 2009, who were 30 years or older at the time of the stroke (born before 1965). National registries and censuses were used to calculate the distance to the nearest first-degree relative in the hospitalisation year. Cox proportional hazards models estimated hazard ratios (HRs) of all-cause mortality from 1994 to 2014 (mean 6.4 years follow-up), adjusting for sociodemographic and clinical covariates. RESULTS: Living up to 30 km from the nearest first-degree relative was associated with a higher mortality (HR 1.04, 95% CI: 1.03 to 1.06) than those living in the same household or neighbourhood as their nearest first-degree relatives. The association was more pronounced (1.13, 1.08 to 1.19 for ≤30 km; 1.25, 1.16 to 1.35 for >30 km) in survivors hospitalised at age ≤65 years, compared to older survivors. Among familial care predictors, having a spouse/partner was the most prominent predictor of reduced mortality (0.80, 0.78 to 0.82) in stroke survivors. CONCLUSION: Living close to first-degree relatives was weakly associated with better survival in stroke patients while having a spouse/partner exhibited a stronger association. Both associations were larger for survivors hospitalised at age ≤65 years. Our findings thus suggest that the impact of familial support on survival after stroke may differ by familial support condition and patient's age at a stroke hospitalisation.

Serial administration of rhBMP-2 and alendronate enhances the differentiation of osteoblasts.

AIM: The incorporation of growth factors is an effective strategy to accelerate bone induction. Bone morphogenetic protein-2 (BMP-2) promotes osteoblast differentiation and induces bone formation. Alendronate (ALN) is an osteoclast deactivation drug. We investigated the effect of serial administration of recombinant human BMP-2 (rhBMP-2) and ALN on osteoblast differentiation. METHODS: The effect of serial administration of rhBMP-2 (0-150 ng/mL) and ALN (0-15 µmol/L) on the viability and differentiation of a clonal murine calvarial cell line, MC3T3-E1, was evaluated at various concentrations and for different periods. The Cell Counting Kit-8 assay was used to assess cell viability. The alkaline phosphatase activity was evaluated as an indicator of osteogenic differentiation. The expression levels of runt domain-containing transcription factor 2 (Runx2) and osteopontin (OPN) were analyzed by real-time polymerase chain reaction and western blotting. Statistical analyses were performed using Student's t test. RESULTS: The serial treatment with rhBMP-2 and ALN increased the expression of the differentiation-related factors Runx2 and OPN, as well as the differentiation ability of osteoblasts compared with individual or simultaneous treatment. The osteoblasts treated with rhBMP-2 followed by ALN showed the highest differentiation. The degree of differentiation in the group treated with rhBMP-2 for 7 days followed by ALN for 3 days was increased by 1.5 times compared with that of the group treated with rhBMP-2 alone (P < .01). CONCLUSION: These findings indicate that the serial administration of rhBMP-2 and ALN may exert osteogenic effects on osteoblastic cells via the upregulation of Runx2 and OPN.

Magic Learning Pill: Ontological and Instrumental Learning in Order to Speed Up Education.

The purpose of this research is to investigate the phenomenology of learning - people"s attitudes toward their learning experiences that have inherent worth in themselves (i.e., ontological learning) or have value outside of the learning itself (i.e., instrumental learning). In order to explore this topic, 58 participants from the U.S., Russia, and Brazil were interviewed with a central question derived from the science fiction writer Isaac Asimov's short story "Profession": whether participants would take a "Magic Learning Pill" (MLP) to avoid the process of learning, and instead magically acquire the knowledge. The MLP would guarantee the immediate learning by skipping the process of learning while achieving the same effect of gaining skills and knowledge. Almost all participants could think of some learning experiences for which they would take MLP and others for which they would not. Many participants would not take MLP for ontological learning, which is learning experiences that have inherent value for the people, while they would take MLP for instrumental learning, which is learning that mainly serves some other non-educational purposes. The main finding suggests that both instrumental and ontological types of learning are recognized by a wide range of people from diverse cultures as present and valued in their lives. This is especially significant in light of the overwhelmingly instrumental tone of public discourse about education. In the context of formal education, ontological learning was mentioned 35 times (28.0%) while instrumental learning was mentioned 74 times (60.2%). Although ontological learning was often mentioned as taking place outside of school, incorporating pedagogy supporting ontological learning at school deserves consideration.

Short-term effects of Theracurmin dose and exercise type on pain, walking ability, and muscle function in patients with knee osteoarthritis.

The purpose of this study was to investigate the short-term of Theracurmin dose and exercise type on pain, walking ability, and muscle function in patients with knee osteoarthritis. Twenty-five patients with knee osteoarthritis randomly selected to Theracurmin intake (T) group and Theracurmin in combined with exercise (T+E) group. T group (n= 13) was taken orally a capsule of 700 mg, 3 times per day, (total 2,100 mg, 35 mg/kg-body weight). T+E group (n= 12) performed aerobic training of 30-min walking and weight training for increasing leg muscular strength. After treatment, the number of steps, muscle mass, range of motion of knee, and the muscle strength in flexion and extension significantly increased. The percent body fat, visual analogue scale, The Western Ontario and McMaster score, centers of pressure with closed eye, 10-m walking ability, stair ascending speed were significantly decreased after treatment. Although no difference observed between the T and T+E groups, the 4-week intake of Theracurmin with and without exercise appeared to be effective in reducing the pain and enhancing muscular and balancing function. Therefore, Theracurmin intake for early symptoms and additional exercise as symptoms alleviate might be an effective way of delaying and managing osteoarthritis, and additional studies investigating the effects of Theracurmin and exercise on osteoarthritis could be beneficial.

Adjuvant Chemotherapy for Advanced Gastric Cancer in Elderly and Non-elderly Patients: Meta-Analysis of Randomized Controlled Trials.

PURPOSE: This study evaluated the benefits of adjuvant chemotherapy on elderly patients with advanced gastric cancer (AGC) using meta-analysis of well-designed randomized controlled clinical studies. MATERIALS AND METHODS: PubMed, Embase, and Cochrane were searched to retrieve clinical studies evaluating the benefits of adjuvant chemotherapy in the elderly with AGC. Hazards ratios (HRs) with 95% confidence intervals (CIs) were pooled across studies using a fixed-effects model. RESULTS: Two studies were included in this meta-analysis to estimate HR for the overall survival (OS), and relapse-free survival (RFS) between adjuvant chemotherapy and surgery in elderly and non-elderly patients. HR for OS in the elderly and non-elderly was 0.745 (95% CI, 0.552 to 1.006, p=0.055) and 0.636 (95% CI, 0.522 to 0.776; p < 0.001), respectively, which showed no heterogeneity regarding HR between the two groups (pinteraction=0.389). HR for RFS in the elderly and non-elderly was 0.613 (95% CI, 0.466 to 0.806; p < 0.001) and 0.633 (95% CI, 0.533 to 0.753; p < 0.001), respectively (pinteraction=0.846). CONCLUSION: Meta-analysis suggests that the benefit of adjuvant chemotherapy to the elderly is not big enough to reach statistical significance while the HR for OS is less than 1 (0.745) and no heterogeneity are observed regarding the HR between the elderly and non-elderly patients.

Effects of therapeutic Tai chi on functional fitness and activities of daily living in patients with Parkinson disease.

The purpose of the study is to investigate the effects of therapeutic Tai chi (TTC) on the functional fitness status and activities of daily living (ADL) of patients with Parkinson disease (PD). The participants were clinically stable PDs in Hoehn and Yahr stage 1-2. These patients were randomly assigned to either the TTC group (n=11) or the control (CON) group (n=9). The TTC exercised at the clinic 2 times a week and performed home-based activity 1 time per week for 12 weeks. All the PDs were evaluated for functional fitness test and ADL screen before and after the 12-week trial. There was a significant Time × group interaction effect on the arm curl (P<0.01), functional reach (P<0.05), and stand on foot with eyes opened (P<0.05) of the functional fitness as compared to the CON. The results of the functional reach test in the CON worsened significantly during the 12-week intervention in comparison with those of the TTC (P<0.01). Also ADL showed significant changed in TCC (P<0.05). Tai chi training showed good effects on the functional fitness in PDs. This study suggests that further research into the based such as Tai chi intervention must be developed PD's quality of life in the future.

Ureteral Rupture Caused by a Suprapubic Catheter in a Male Patient With Spinal Cord Injury: A Case Report.

Spinal cord injury (SCI) may lead to urinary system disturbances. Patients with SCI usually have neurogenic bladder, and treatment optionss for this condition include clean intermittent catheterization and a permanent indwelling urethral or suprapubic catheter. Complications of catheterization include urinary tract infection, calculi, urinary tract injury, bladder contraction, bladder spasm, renal dysfunction, bladder cancer, and so forth. To the best of our knowledge, ureteral rupture is an unusual complication of catheterization, and ureteral rupture has been rarely reported in SCI patients. Therefore, here we report a case of ureteral rupture caused by a suprapubic catheter used for the treatment of neurogenic bladder with vesicoureteral reflux in a male patient with SCI. Due to SCI with neurogenic bladder, ureteral size can be reduced and the suprapubic catheter tip can easily migrate to the distal ureteral orifice. Thus, careful attention is required when a catheter is inserted into the bladder in patients with SCI.

Population-Based Regional Cancer Incidence in Korea: Comparison between Urban and Rural Areas.

PURPOSE: The purpose of this study is to investigate differences in organ-specific cancer incidence according to the region and population size in Korea. MATERIALS AND METHODS: We reviewed the data of the cancer registration program of Gyeongnam Regional Cancer Center between 2008 and 2011. Age-standardized rates of cancer incidence were analyzed according to population size of the region and administrative zone. RESULTS: Incidence of thyroid cancer has been increasing rapidly in both urban and rural areas. However, the thyroid cancer incidence was much lower in rural areas than in urban areas and megalopolis such as Seoul. Gastric cancer was relatively more common in rural areas, in megalopolis near the sea (Ulsan, Busan, and Incheon), and other southern provinces (Chungcheongnam-do, Gyeongsangbuk-do, and Gyeongsangnam-do). A detailed analysis in Gyeongsangnam-do revealed that rural areas have relatively low incidence of thyroid and colorectal cancer, and relatively high incidence of gastric and lung cancer compared to urban areas. CONCLUSION: This study suggests that there are some differences in cancer incidence by population size. Thyroid and colorectal cancer incidence was increasing, and gastric and lung cancer was slightly decreasing in urban areas, whereas gastric and lung cancer incidence still remains high in rural areas.

D-Dimer Can Serve as a Prognostic and Predictive Biomarker for Metastatic Gastric Cancer Treated by Chemotherapy.

Systemic activation of hemostasis and thrombosis has been implicated in tumor progression and metastasis. D-dimer has been used as an indicator for the thrombosis. Here, we investigated the role of the activation of coagulation in patients with metastatic gastric cancer by measuring D-dimer level.We conducted an observation study of 46 metastatic gastric cancer patients who received palliative chemotherapy (CTx). D-dimer levels were assessed before CTx and at the first response evaluation after CTx.The overall survival (OS) of patients with pretreatment D-dimer levels <1.5 µg/mL was significantly longer than that of patients with D-dimer levels ≥1.5 µg/mL (22.0 vs 7.9 months, P = 0.019). At the first response evaluation, the mean level of D-dimer was significantly decreased by 2.11 µg/mL in patients either with partial response or stable disease (P = 0.011) whereas the mean level of D-dimer, although the difference did not reach statistical significance, was increased by 2.46 µg/mL in patients with progressive disease. In addition, the OS of patients with D-dimer levels <1.0 µg/mL at the first response evaluation was significantly longer than that of patients with D-dimer levels ≥1.0 µg/mL (22.0 vs 7.0 months, P = 0.009). The lower D-dimer levels (<1.0 µg/mL) at the first response evaluation after CTx was independent predictive factor for better survival in multivariate analysis (P = 0.037).This study suggests that D-dimer levels may serve as a biomarker for response to CTx and OS in patients with metastatic gastric cancer.

Prognostic significance of the absolute monocyte counts in lung cancer patients with venous thromboembolism.

We investigated the clinical significance of the absolute monocyte count (AMC) as a predictor of the response to anticoagulation and survival in lung cancer patients with venous thromboembolism (VTE). We retrospectively reviewed 1707 patients with pathologically proven lung cancer who visited the hospital between July 2008 and May 2014. Among them, the clinical data of patients newly diagnosed with VTE and treated with anticoagulation were compared between the low and high AMC groups according to the median value of AMC (640/µL) at the time of VTE diagnosis. The incidence of VTE was 7.9 % during the study period. Most of the patients had non-small-cell lung cancer (82.1 %), stage IV (64.2 %), and pulmonary thromboembolism (76.1 %) and were incidentally diagnosed with VTE (76.9 %). The patients' characteristics and laboratory values were not significantly different between the low and high AMC groups. Among patients available for evaluation of the response to anticoagulation, the high AMC group was significantly more refractory to anticoagulation than the low AMC group (no response to anticoagulation, 21.7 vs. 6.8 %, respectively; p = 0.044). Additionally, the high AMC group showed worse overall survival (OS) than the low AMC group (median, 9.6 vs. 5.9 months; p = 0.038). On multivariate analysis, high AMC, low albumin, and advanced stage were independent poor prognostic factors for OS. High AMC is associated with refractoriness to anticoagulation and poor prognosis in lung cancer patients with VTE.

Carbamylated low-density lipoprotein attenuates glucose uptake via a nitric oxide-mediated pathway in rat L6 skeletal muscle cells.

Carbamylation is a cyanate-mediated posttranslational modification. We previously reported that carbamylated low-density lipoprotein (cLDL) increases reactive oxygen species and apoptosis via a lectin-like oxidized LDL receptor mediated pathway in human umbilical vein endothelial cells. A recent study reported an association between cLDL and type 2 diabetes mellitus (T2DM). In the current study, the effects of cLDL on glucose transport were explored in skeletal muscle cells. The effect of cLDL on glucose uptake, glucose transporter 4 (GLUT4) translocation, and signaling pathway were examined in cultured rat L6 muscle cells using 2-deoxyglucose uptake, immunofluorescence staining and western blot analysis. The quantity of nitric oxide (NO) was evaluated by the Griess reaction. The effect of native LDL (nLDL) from patients with chronic renal failure (CRF-nLDL) on glucose uptake was also determined. It was observed that cLDL significantly attenuated glucose uptake and GLUT4 translocation to the membrane, which was mediated via the increase in inducible nitric oxide synthase (iNOS)-induced NO production. Tyrosine nitration of the insulin receptor substrate-1 (IRS­1) was increased. It was demonstrated that CRF-nLDL markedly reduced glucose uptake compared with nLDL from healthy subjects. Collectively, these findings indicate that cLDL, alone, attenuates glucose uptake via NO-mediated tyrosine nitration of IRS­1 in L6 rat muscle cells and suggests the possibility that cLDL is involved in the pathogenesis of T2DM.

Clinical Significance of Fecal Lactoferrin and Multiplex Polymerase Chain Reaction in Patients with Acute Diarrhea.

BACKGROUND/AIMS: The diagnostic yield of fecal leukocyte and stool cultures is unsatisfactory in patients with acute diarrhea. This study was performed to evaluate the clinical significance of the fecal lactoferrin test and fecal multiplex polymerase chain reaction (PCR) in patients with acute diarrhea. METHODS: Clinical parameters and laboratory findings, including fecal leukocytes, fecal lactoferrin, stool cultures and stool multiplex PCR for bacteria and viruses, were evaluated prospectively for patients who were hospitalized due to acute diarrhea. RESULTS: A total of 54 patients were included (male, 23; median age, 42.5 years). Fecal leukocytes and fecal lactoferrin were positive in 33 (61.1%) and 14 (25.4%) patients, respectively. Among the 31 patients who were available for fecal pathogen evaluation, fecal multiplex PCR detected bacterial pathogens in 21 patients, whereas conventional stool cultures were positive in only one patient (67.7% vs 3.2%, p=0.000). Positive fecal lactoferrin was associated with presence of moderate to severe dehydration and detection of bacterial pathogens by multiplex PCR (21.4% vs 2.5%, p=0.049; 100% vs 56.5%, p=0.032, respectively). CONCLUSIONS: Fecal lactoferrin is a useful marker for more severe dehydration and bacterial etiology in patients with acute diarrhea. Fecal multiplex PCR can detect more causative organisms than conventional stool cultures in patients with acute diarrhea.

Can thymidine phosphorylase be a predictive marker for gemcitabine and doxifluridine combination chemotherapy in cholangiocarcinoma?: case series.

Unresectable cholangiocarcinoma is poorly responded to chemotherapy, especially for the case refractory to gemcitabine and cisplatin. Here, we tested whether high expression of thymidine phosphorylase (TP) can be a predictive biomarker for the indicator for gemcitabine and doxifluridine combination chemotherapy in the cholangiocarcinoma refractory to gemcitabine and cisplatin. Immunohistochemical staining for TP was performed with a biopsy specimen. We accepted the result as positive when more than 10% of cancer cells were stained with moderate intensity. Here, we report 2 cases of TP-positive cholangiocarcinoma well controlled with gemcitabine and doxifluridine combination chemotherapy, which had been refractory to the first line treatment with gemcitabine and cisplatin combination chemotherapy.

Prognostic significance of the lymphocyte-to-monocyte ratio in patients with small cell lung cancer.

We investigated the role of the lymphocyte-to-monocyte ratio (LMR) at diagnosis in patients with small cell lung cancer (SCLC) treated with standard chemotherapy. We retrospectively reviewed all SCLC patients who received frontline platinum-based chemotherapy or chemoradiotherapy. The cut-off LMR value at diagnosis was 4.19 according to time-dependent receiver-operating characteristic analysis. A total of 188 patients were divided into two groups according to the LMR at diagnosis (low vs. high LMR). Of the 171 patients evaluated for treatment response, 14 (12.4%) in the low LMR group and 1 (1.7%) in the high LMR group were non-responders (p = 0.025). In the whole patient cohort, progression-free survival and overall survival were significantly shorter in the low LMR group (low vs. high: median 6.4 vs. 7.1 months, p = 0.001; median 10.6 vs. 13.1 months, p = 0.003, respectively). On multivariate analysis, a low LMR at diagnosis was an independent unfavourable prognostic factor for predicting survival. The LMR at diagnosis could be helpful for predicting prognosis in SCLC.

The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.

Angiomyolipomas (AMLs) are relatively rare hamartomatous or benign tumors that occasionally occur as part of tuberous sclerosis complex (TSC). Mutations in either of the two genes, TSC1 and TSC2, have been attributed to the development of TSC. Between 1994 and January 2009, 83 patients were diagnosed with AML at the Samsung Medical Center. In that group of patients, 5 (6%) had AML with TSC (AML-TSC). Mutational analysis of the TSC2 gene was performed using 7 samples from the 5 AML-TSC patients and 14 samples from 14 patients with sporadic AML without TSC (AML-non-TSC). From this analysis, mutations in TSC genes were identified in 5 samples from the AML-TSC patients (mutation detection rate=71%) and 3 samples from AML-non-TSC patients (mutation detection rate=21%). In the case of AML-TSC, 6 mutations were found including 3 recurrent mutations and 3 novel mutations, while in the case of AML-non-TSC, 4 mutations were identified once, including 1 novel mutation. Also MLPA analysis of the TSC2 gene showed that TSC2 exon deletion is more frequently observed in AML-TSC patients than in AML-non-TSC patients. This is the first mutation and multiplex ligation-dependent probe amplification (MLPA) analyses of TSC2 in Korean AMLs that focus on TSC. This study provides data that are representative of the distribution of mutations and exon deletions at TSC genes in clinically diagnosed AML-TSC cases of the Korean population.