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1.
Article in English | WPRIM | ID: wpr-874161

ABSTRACT

Background@#We developed an assay to measure DNA-incorporated 6-thioguanine (DNATG) and validated its clinical applicability in Korean pediatric patients with acute lymphoblastic leukemia (ALL) in order to improve individualized thiopurine treatment and reduce the life-threatening cytotoxicity. @*Methods@#The DNA-TG assay was developed based on liquid chromatography-tandem mass spectrometry, with isotope-labeled TG-d3 and guanine-d3 as internal standards.This method was applied to 257 samples of pediatric ALL patients. The DNA-TG level was compared with erythrocyte TG nucleotide (RBC-TGN) level in relation to the TPMT and NUDT15 genotypes, which affect thiopurine metabolism, using Spearman’s rank test and repeated measure ANOVA. @*Results@#For DNA-TG quantification, a linearity range of 10.0-5,000.0 fmol TG/µg DNA;bias for accuracy of –10.4% –3.5%; coefficient of variation for intra- and inter-day precision of 3.4% and 5.8% at 80 fmol TG/µg DNA and of 4.9% and 5.3% at 800 fmol TG/µg DNA, respectively; and recovery of 85.7%–116.2% were achieved without matrix effects or carry-over. The median DNA-TG level in the 257 samples was 106.0 fmol TG/µg DNA (interquartile range, 75.8–150.9). There was a strong correlation between DNA-TG and RBC-TGN levels (ρ = 0.68,ρ < 0.0001). The DNA-TG/RBC-TGN ratio was significantly higher in NUDT15 intermediate metabolizers (*1/*2 and *1/*3) than in patients with wildtype alleles (ρ < 0.0001). @*Conclusions@#This simple and sensitive method for measuring DNA-TG level can improve therapeutic drug monitoring for thiopurine treatment.

2.
Laboratory Animal Research ; : 188-196, 2020.
Article | WPRIM | ID: wpr-836909

ABSTRACT

Brain Factor-7® (BF-7), silk fibroin peptide, is known to be effective in improvement of memory and learning ability. In this study, the effects of BF-7 (10 mg/kg, p.o., pre-treatment for 7 days and post-treatment for 7 days) on neuroprotection and memory and learning functions were investigated in a rat model of transient focal cerebral ischemia and a gerbil model of transient global forebrain ischemia. Furthermore, to find the mechanism of BF-7, we examined the neuroprotective and antioxidative effects of BF-7 in vitro using neuroblastoma (SH-SY5Y) cells. In vivo model, treatment with BF-7 significantly reduced the number of errors in 8-arm maze test and significantly increased latency time in passive avoidance test at 7 days after focal ischemia compared to those in the vehicle-treated group. In addition, treatment with BF-7 significantly decreased the infarct size or neuronal death at 7 day following transient ischemia compared to that in the vehicle-treated group. In vitro model, 10 or 20 μg/ml of BF-7 treatment significantly increased cell viability in dose-dependent manner. In addition, oxidative stress was significantly attenuated in the ischemic cells, showing that 10 or 20 μg/ml of BF-7 treatment significantly reduced the generation of reactive oxygen species (ROS) compared to that in the ischemic cells. These results indicate that BF-7 treatment can attenuate ischemic damages and improve memory deficits via reduction of ROS generation.

3.
Article | WPRIM | ID: wpr-833956

ABSTRACT

Background@#Previous studies have shown that body composition is associated with chronic kidney disease (CKD), and perimenopause is associated with increased fat mass and decreased lean body mass. Muscle wasting is common among patients with CKD. Sarcopenic obesity (SO) refers to excess adiposity with decreased muscle mass. However, little is known about the relationship between SO and renal function decline. Here, we identified the relationship between SO and decreased estimated glomerular filtration rate (eGFR) in postmenopausal women. @*Methods@#We conducted a cross-sectional study based on the data from the Korea National Health and Nutrition Examination Survey (2008–2011). We analyzed 4,560 postmenopausal women who underwent dual energy X-ray absorptiometry. Sarcopenia was defined based on weight-adjusted appendicular skeletal muscle mass. Obesity was defined based on body mass index. The eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration equation. Subjects were classified into four groups: normal, obese, sarcopenic, and sarcopenic obese. Logistic regression analysis was performed to examine the association between SO and decreased eGFR. The results were adjusted for variable confounders. @*Results@#In the unadjusted model, the odds ratio (OR) of decreased eGFR for SO was 1.67 (95% confidence interval [CI], 1.23–2.26). The obese and sarcopenic groups had ORs of 0.67 (95% CI, 0.44–1.03) and 0.70 (95% CI, 0.44–1.10), respectively. After controlling for confounding variables, there was also a significant association between SO and decreased eGFR (adjusted OR, 1.48; 95% Cl, 1.05–2.07). @*Conclusion@#SO was independently associated with decreased eGFR in postmenopausal Korean women.

4.
Yonsei Medical Journal ; : 542-546, 2020.
Article | WPRIM | ID: wpr-833355

ABSTRACT

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APDS1 and collected data on the efficacy and safety profile of sirolimus, a mammalian target of rapamycin inhibitor and pathway-specific targeted medicine. The same heterozygous PIK3CD mutation was detected in all three patients (E1021K). After genetic diagnosis, all patients received sirolimus and experienced an excellent response, including amelioration of lymphoproliferation and improvement of nodular mucosal lymphoid hyperplasia in the gastrointestinal tract. The median trough level of sirolimus was 5.5 ng/mL (range, 2.8–7.5) at a dose of 2.6–3.6 mg/m2. Two patients who needed highdose, short-interval, immunoglobulin-replacement treatment (IGRT) had a reduced requirement for IGRT after initiating sirolimus, and the dosing interval was extended from 2 and 3 weeks to 4 weeks. The IgG trough level after sirolimus treatment (median, 594 mg/dL; range, 332–799 mg/dL) was significantly higher than that before sirolimus treatment (median, 290 mg/dL; range, 163–346 mg/dL) (p<0.001). One episode of elevated serum creatinine with a surge of sirolimus (Patient 2) and episodes of neutropenia and oral stomatitis (Patient 1) were observed. We diagnosed the first three patients with APDS1 in Korea. Low-dose sirolimus may alleviate clinical manifestations thereof, including hypogammaglobulinemia.

5.
Article in English | WPRIM | ID: wpr-832792

ABSTRACT

Inflammatory myofibroblastic tumor is a rare benign lesion that accounts for 0.04–1% of all lung tumors and usually appears as a solitary pulmonary nodule or mass. Here, we report the case of an endobronchial inflammatory myofibroblastic tumor in a 21-year-old man with a focus on the imaging findings and a review of previous literature.

6.
Article in English | WPRIM | ID: wpr-832791

ABSTRACT

Tracheal leiomyoma is a rare benign tumor, which is composed of transformed cells of mesenchymal origin. We describe a case in which digital tomosynthesis was useful to evaluate a tracheal tumor that was overlooked on initial chest radiographs.

7.
Article | WPRIM | ID: wpr-832104

ABSTRACT

Hereditary spherocytosis (HS) is the most common inherited red cell membrane disorder. Its main laboratory finding is anemia with reticulocytosis. However, in the case of an aplastic crisis, there may be no reticulocytosis, making the diagnosis of HS difficult. We present the case of a 4-year-old boy who initially presented with persistent fever and sore throat. His 8-year old brother also had anemia of unknown etiology, and his father had a history of splenectomy in his 20s. Physical examination revealed anemic conjunctivae and hepatosplenomegaly, and laboratory findings showed anemia with decreased reticulocyte count and elevated ferritin and lactate dehydrogenase levels. A peripheral blood smear showed microcytic hypochromic anemia with severe poikilocytosis (spherocytes, acanthocytes, schistocytes), and bone marrow examination revealed decreased erythroid cells and increased hemophagocytosis. Increased osmotic fragility was observed, and parvovirus B19 was detected using polymerase chain reaction. Hence, we established the diagnosis of hereditary spherocytosis manifested as an aplastic crisis caused by parvovirus B19 infection

8.
Article in English | WPRIM | ID: wpr-831569

ABSTRACT

Background@#Hodgkin's lymphoma (HL) constitutes 10%–20% of all malignant lymphomas and has a high cure rate (5-year survival, around 90%). Recently, interest has increased concerning preventing secondary complications (secondary cancer, endocrine disorders) in long-term survivors. We aimed to study the epidemiologic features and therapeutic outcomes of HL in children, adolescents, and young adults in Korea. @*Methods@#We performed a multicenter, retrospective study of 224 patients aged < 25 years diagnosed with HL at 22 participating institutes in Korea from January 2007 to August 2016. @*Results@#A higher percentage of males was diagnosed at a younger age. Nodular sclerosis histopathological HL subtype was most common, followed by mixed cellularity subtype.Eighty-one (36.2%), 101 (45.1%), and 42 (18.8%) patients were classified into low, intermediate, and high-risk groups, respectively. Doxorubicin, bleomycin, vinblastine, dacarbazine was the most common protocol (n = 102, 45.5%). Event-free survival rate was 86.0% ± 2.4%, while five-year overall survival (OS) rate was 96.1% ± 1.4%: 98.7% ± 1.3%, 97.7% ± 1.6%, and 86.5% ± 5.6% in the low, intermediate, and high-risk groups, respectively (P = 0.021). Five-year OS was worse in patients with B-symptoms, stage IV disease, highrisk, splenic involvement, extra-nodal lymphoma, and elevated lactate dehydrogenase level.In multivariate analysis, B-symptoms and extra-nodal involvement were prognostic factors for poor OS. Late complications of endocrine disorders and secondary malignancy were observed in 17 and 6 patients, respectively. @*Conclusion@#This is the first study on the epidemiology and treatment outcomes of HL in children, adolescents, and young adults in Korea. Future prospective studies are indicated to develop therapies that minimize treatment toxicity while maximizing cure rates in children, adolescents, and young adults with HL.

9.
Cancer Research and Treatment ; : 1251-1261, 2020.
Article | WPRIM | ID: wpr-831133

ABSTRACT

Purpose@#Neuroblastoma (NB) is the most common extracranial solid tumor found in children. To identify significant genetic factors for the risk of NB, several genetic studies was conducted mainly for Caucasians and Europeans. However, considering racial differences, there is a possibility that genetic predispositions that contribute to the development of NB are different, and GWAS study has not yet been conducted on Korean NB patients. @*Materials and Methods@#To identify the genetic variations associated with the risk of pediatric NB in Korean children, we performed a genome-wide association analysis with 296 NB patients and 1000 unaffected controls (total n = 1,296) after data cleaning and filtering as well as imputation of non-genotyped SNPs using IMPUTE v2.3.2. @*Results@#After adjusting for multiple comparisons, we found 21 statistically significant SNPs associated with the risk of NB (Pcorr < 0.05) within 12 genes (RPTN, MRPS18B, LRRC45, KANSL1L, ARHGEF40, IL15RA, L1TD1, ANO7, LAMA5, OR7G2, SALL4, and NEUROG2). Interestingly, out of these, 12 markers were nonsynonymous SNPs. The SNP rs76015112 was most significantly associated with the risk of NB (p = 8.1E-23, Pcorr = 2.3E-17) and was located in the RPTN gene. In addition, significant nonsynonymous SNPs in ADGRE1 were found in patients with MYCN amplification (rs7256147, p = 2.6E-05). In high-risk group, rs7256147 was observed as a significant SNP (p = 5.9E-06). @*Conclusion@#Our findings might facilitate improved understanding of the mechanism of pediatric NB pathogenesis. However, functional evaluation and replication of these results in other populations are still needed.

10.
Article | WPRIM | ID: wpr-831082

ABSTRACT

Purpose@#Adenocarcinoma is an extremely rare malignancy in the pediatric population. Research regarding pediatric adenocarcinoma is very rare in Korea. This study aimed to investigate the clinical features of pediatric adenocarcinomas of various primary organ sites in Korea. @*Materials and Methods@#Pediatric patients under 18 years, diagnosed with adenocarcinoma of various sites between January 1995 and December 2016, were included. We retrospectively reviewed patient and tumor characteristics and calculated survival estimates, reported as 5-year survival rate and 95% confidence interval. @*Results@#Of 80 patients (median age, 15 years; range, 10 to 17 years), 37 (46.3%) were men, and 24 (30%) had a family history of cancer or underlying disease relevant to malignancy. The cancer locations were the colon and rectum (n=32), ovaries (n=18), stomach (n=15), lung (n=4), small bowel (n=1), and other sites (n=10). Totally, 54.8% patients (42/77) had stage 3 or 4 disease. The median follow-up period was 2.0 years (range, 0 to 20.4). The 5-year overall survival estimate for all patients, and for those with stomach, colorectal, ovarian, and other cancer sites were 57.9%±11.5%, 58.2%±25.7%, 41.5%±18.2%, 87.5%±16.2%, and 64.0%±34.4%, respectively. The 5-year survival rate differed significantly between categories of adenocarcinomas into gastrointestinal (GI) (44.7%) and non-GI adenocarcinomas (78.8%) (p=0.007). The 5-year survival rate also differed significantly according to carcinoembryonic antigen level (69.3% in 3 ng/mL; p < 0.001). @*Conclusion@#In pediatric patients, adenocarcinomas arise from various organs and are often diagnosed at advanced stages. Large, prospective studies for their accurate clinical characteristics and prognostic factors are needed.

11.
Article | WPRIM | ID: wpr-831054

ABSTRACT

Purpose@#Loss of heterozygosity (LOH) at chromosomes 1p and 16q is a poor prognostic factor infavorable histology Wilms tumor (FHWT). This study investigated the prevalence of LOH at1p and 16q and evaluated its prognostic value in Korean children with FHWT. @*Materials and Methods@#We analyzed 101 FHWT patients who were diagnosed between 1996 and 2016 in KoreanSociety of Pediatric Hematology Oncology Group hospitals. Using paraffin-embedded kidneytissue samples sent from each center, we reviewed LOH at 1p and 16q in each patient andassessed the prognostic value of LOH status for clinical parameters affecting event-freesurvival (EFS). @*Results@#Of the 101 patients, 12 (11.9%) experienced recurrence; the 3-year EFS was 87.6%. LOHat 1p or 16q was detected in 19 patients (18.8%), with five having LOH at both 1q and 16q.The frequency of LOH at 1p was higher among younger patients (p=0.049), but there wasno difference in LOH prevalence according to tumor stage. In the multivariate analysis, LOHat 16q was a significant negative prognostic factor affecting EFS (3-year EFS, 73.7% vs.91.1%; hazard ratio, 3.95; p=0.037), whereas LOH at 1p was not (p=0.786). @*Conclusion@#LOH at 16q was a significant negative prognostic factor affecting outcome in Korean pediatricFHWT patients. Due to the small sample size of this study, large-scale multicenter trialsare warranted to investigate the prognostic value of LOH at 1p and 16q in Korean childrenwith FHWT.

12.
Article | WPRIM | ID: wpr-830176

ABSTRACT

Background@#Low density lipoprotein (LDL) cholesterol is an important metabolic marker, and it is suggested to be closely related with dietary habits.The use of nutrition labels is beneficial for making healthier food choices. In addition, dietary habits and nutrients of interest vary among nutrient label users. This study investigated the association between different nutrients of interest and LDL cholesterol levels in Korean adults. @*Methods@#This cross-sectional study included 21,870 adults from the 2008–2011 Korea National Health and Nutrition Examination Survey (KNHANES). Participants were divided into five groups according to the nutrients they were most interested in: 1) total calories, 2) carbohydrates, 3) protein, 4) fat, and 5) non-users of nutrition label. LDL cholesterol target level was set according to individual cardiovascular risk level. Multivariate logistic regression analysis was used to verify which nutrient of interest is related to the achievement of LDL cholesterol target level. @*Results@#Participants who were interested in total calories consumed lesser total calories and carbohydrates daily than those in the other groups did. Moreover, compared with the “not reading nutrition label” group, the odds ratios (95% confidence intervals) for achieving LDL cholesterol target level was 1.29 (1.05–1.58, P=0.015) in the “total calories” group after adjusting for confounding variables. @*Conclusion@#Participants who were interested in total calories were more likely to achieve optimal LDL cholesterol levels than those who did not read nutrition labels. Therefore, reading nutrition labels, especially focusing on total calories, can be helpful for reducing cardiovascular risk.

13.
Article in English | WPRIM | ID: wpr-762571

ABSTRACT

BACKGROUND: Since the night time work was introduced as a ‘harmful factor’ for the worker's special health examination (WSHE) in 2014, the validation of the questionnaire used for screening gastrointestinal (GI) disorder has not been conducted. The purpose of this study is to verify the validity of the questionnaire using the data of specific health screening cluster. METHODS: We used WSHE screening data for 3 years, from 2014 to 2016, in health screening cluster. The subjects who had received upper GI endoscopy in opportunistic screening and WSHE simultaneously regardless of the results of the questionnaire were selected. We tested the validity of the questionnaire using upper GI endoscopy as a gold standard. RESULTS: This study was conducted on 5,057 examinees in 2014, 8,352 examinees in 2015, and 10,587 examinees in 2016. The validity of the questionnaire for each year was as follows: sensitivity 12.3% (95% confidence interval [CI], 11.1–13.4), specificity 88.6% (95% CI, 87.2–90.1), accuracy 41.1% (95% CI, 39.8–42.5) in 2014, sensitivity 5.9% (95% CI, 5.2–6.5), specificity 93.6% (95% CI, 92.7–94.4), accuracy 38.6% (95% CI, 37.6–39.6) in 2015, sensitivity 6.0% (95% CI, 5.4–6.5), a specificity of 9.42% (95% CI, 93.4–95.0), accuracy of 34.2% (95% CI, 33.3–35.1) in 2016. In generally, questionnaire showed sensitivity of 10%, specificity of 90%, and accuracy of 40%. CONCLUSIONS: Despite the purpose of WSHEs aiming to identify target disease early, the sensitivity of the questionnaire for GI disease was too low as 10%. The reasons for this are the problem of the question itself, and the problem of ambiguous target disease. In the future, the questionnaire should be improved to meet the purpose of the WSHE, and further correction of the target disease should be made.


Subject(s)
Endoscopy , Mass Screening , Sensitivity and Specificity
14.
Article in English | WPRIM | ID: wpr-761930

ABSTRACT

Proton-pump inhibitors (PPIs) are effectively used to treat acid-related diseases, including gastroesophageal reflux disease (GERD); however, many unmet medical needs still exist. As a new treatment option, potassium-competitive acid blockers (P-CABs), such as tegoprazan, have been developed. This study was performed to compare the pharmacokinetics (PKs) between two formulations (test and reference drugs) of tegoprazan 100 mg tablets. A randomized, single oral dose, two-treatment, two-period, two-sequence study was conducted with 12 healthy subjects. Each subject received the test drug or reference drug in the first period and the alternative treatment in the second period. For PK evaluation, blood samples were collected up to 48 hours post-dose in each period. The plasma concentrations of tegoprazan and its active metabolite (M1) were measured by liquid chromatography-tandem mass spectrometry. PK parameters, including maximum plasma concentration (C(max)) and area under the concentration-time curve from zero to the last measurable time (AUC(last)), were estimated using a non-compartmental method. The plasma concentration-time profiles of the two formulations were comparable. The geometric mean ratios [90% confidence intervals (CIs)] of the test drug to the reference drug for C(max) and AUC(last) were 0.98 (0.85–1.12) and 1.03 (0.93–1.13), respectively. The corresponding values of M1 were 0.99 (0.89–1.11) and 1.01 (0.93–1.09), respectively. The two formulations of tegoprazan exhibited comparable PK profiles, fulfilling the regulatory criteria for bioequivalence.


Subject(s)
Gastroesophageal Reflux , Healthy Volunteers , Humans , Male , Mass Spectrometry , Methods , Pharmacokinetics , Plasma , Tablets , Therapeutic Equivalency
15.
Korean Journal of Radiology ; : 1167-1175, 2019.
Article in English | WPRIM | ID: wpr-760284

ABSTRACT

OBJECTIVE: To compare the objective and subjective image quality indicators and radiation doses of computed tomography (CT) venography performed using model-based iterative reconstruction (MBIR) at 80 kVp and adaptive statistical iterative reconstruction (ASIR)-V at 70 kVp. MATERIALS AND METHODS: Eighty-three patients who had undergone CT venography of the lower extremities with MBIR at 80 kVp (Group A; 21 men and 20 women; mean age, 55.5 years) or ASIR-V at 70 kVp (Group B; 18 men and 24 women; mean age, 57.3 years) were enrolled. Two radiologists retrospectively evaluated the objective (vascular enhancement, image noise, signal-to-noise ratio [SNR], contrast-to-noise ratio [CNR]) and subjective (quantum mottle, delineation of contour, venous enhancement) image quality indicators at the inferior vena cava and femoral and popliteal veins. Clinical information, radiation dose, reconstruction time, and objective and subjective image quality indicators were compared between groups A and B. RESULTS: Vascular enhancement, SNR, and CNR were significantly greater in Group B than in Group A (p ≤ 0.015). Image noise was significantly lower in Group B (p ≤ 0.021), and all subjective image quality indicators, except for delineation of vein contours, were significantly better in Group B (p ≤ 0.021). Mean reconstruction time was significantly shorter in Group B than in Group A (1 min 43 s vs. 131 min 1 s; p < 0.001). Clinical information and radiation dose were not significantly different between the two groups. CONCLUSION: CT venography using ASIR-V at 70 kVp was better than MBIR at 80 kVp in terms of image quality and reconstruction time at similar radiation doses.


Subject(s)
Female , Humans , Image Enhancement , Image Processing, Computer-Assisted , Lower Extremity , Male , Noise , Phlebography , Popliteal Vein , Retrospective Studies , Signal-To-Noise Ratio , Veins , Vena Cava, Inferior , Venous Thrombosis
16.
Korean Journal of Radiology ; : 1498-1514, 2019.
Article in English | WPRIM | ID: wpr-760259

ABSTRACT

Image-guided localization materials are constantly evolving, providing options for the localization of small pulmonary nodules to guide minimally invasive thoracic surgery. Several preoperative methods have been developed to localize small pulmonary lesions prior to video-assisted thoracic surgery. These localization techniques can be categorized into 4 groups according to the materials used: localization with metallic materials (hook-wire, microcoil, or spiral coil), localization with dye (methylene blue or indigo carmine), localization with contrast agents (lipiodol, barium, or iodine contrast agents), and radiotracers (technetium-99m). However, the optimal localization method has not yet been established. In this review article, we discuss the various localization techniques and the advantages and disadvantages of localization techniques as well as the available safety and efficacy data on these techniques.


Subject(s)
Barium , Coloring Agents , Contrast Media , Indigo Carmine , Iodine , Lung , Methods , Plants , Thoracic Surgery , Thoracic Surgery, Video-Assisted , Tomography, X-Ray Computed , Ultrasonography
17.
Article in English | WPRIM | ID: wpr-765167

ABSTRACT

In the initial published version of this article, there was a mistake in the title. The correct title should be “Impact of Day 14 Peripheral Blood Chimerism after Allogeneic Hematopoietic Stem Cell Transplantation on the Treatment Outcome of Non-Malignant Disease”.

18.
Article in English | WPRIM | ID: wpr-765152

ABSTRACT

BACKGROUND: The impact of early peripheral blood chimerism on the outcome of allogeneic hematopoietic stem cell transplantation (allo-HSCT) is unclear. We aimed to determine whether day 14 peripheral blood chimerism after allo-HSCT predicts outcomes in patients with non-malignant diseases. METHODS: Data from 56 patients who received allo-HSCT between April 2007 and March 2016 were retrospectively analyzed. Chimerism was evaluated using short-tandem repeat polymerase chain reaction, with mixed chimerism (MC) defined as greater than 1% recipient cells which was further categorized into low-level MC (> 1% and < 15% of recipient-derived cells) and high-level MC (≥ 15% of the recipient-derived cells). RESULTS: Thirty-six patients showed complete donor chimerism (CC), 14 low-level MC, and 6 high-level MC at day 14 post-transplant. The estimated 5-year event-free survival (EFS) was higher in the CC or low-level MC groups than in the high-level MC group (86.1% vs. 71.4% vs. 33.3%; P = 0.001). In BM or peripheral blood stem cell (BM/PBSC) transplants, the 5-year EFS was higher in the CC or low-level MC group than in the high-level MC group (93.1% vs. 66.7% vs. 0%; P < 0.001). However, in cord blood transplants, the 5-year OS and EFS according to the day 14 peripheral blood chimerism did not reach statistical significance. CONCLUSION: Although CC is not always necessary after allo-HSCT for non-malignant diseases, our data suggest that day 14 peripheral blood chimerism may predict outcomes in patients with non-malignant diseases who underwent BM/PBSC transplants.


Subject(s)
Bone Transplantation , Chimerism , Disease-Free Survival , Fetal Blood , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Humans , Polymerase Chain Reaction , Retrospective Studies , Stem Cells , Tissue Donors , Treatment Outcome
19.
Article in English | WPRIM | ID: wpr-765092

ABSTRACT

BACKGROUND: Neurotrophin-3 (NT-3), a member of the NT family, has only been considered an ancillary compound that provides anti-apoptotic benefits by inactivating tropomyosin receptor kinase C (TrkC)-induced apoptotic signals. However, little is known about the clinical relevance of NT-3 expression itself in neuroblastoma. The purpose of this study was to assess NT-3 expression in patients with neuroblastoma and its relevance to clinicopathologic findings and treatment outcomes. METHODS: In this study, expression of NT-3 and TrkC was analyzed using immunohistochemistry in 240 patients with newly diagnosed neuroblastoma. RESULTS: The results of the study revealed that NT-3 expression was associated with older age at diagnosis, localized tumors, and more differentiated tumors but was not associated with early treatment response (degree of residual tumor volume after three cycles of chemotherapy) and progression-free survival (PFS). However, when analysis was confined to patients with MYCN amplified tumors, NT-3 expression was associated with better early treatment response with borderline significance (P = 0.092) and higher PFS (86.9% vs. 58.2%; P = 0.044). In multivariate analysis in patients with MYCN amplified tumors, NT-3 was independent prognostic factor (hazard ratio, 0.246; 95% confidence interval, 0.061–0.997; P = 0.050). In another subgroup analysis, the early treatment response was better if NT-3 was expressed in patients without TrkC expression (P = 0.053) while it was poorer in patients with TrkC expression (P = 0.023). CONCLUSION: This study suggests that NT-3 expression in neuroblastoma has its own clinical significance independent of TrkC expression, and its prognostic significance differs depending on the status of MYCN amplification and/or TrkC expression.


Subject(s)
Diagnosis , Disease-Free Survival , Humans , Immunohistochemistry , Multivariate Analysis , Neoplasm, Residual , Neuroblastoma , Phosphotransferases , Tropomyosin
20.
Article in Korean | WPRIM | ID: wpr-787389

ABSTRACT

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption.The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.


Subject(s)
Clavicle , Cleidocranial Dysplasia , Clinical Coding , Codon, Nonsense , Core Binding Factor Alpha 1 Subunit , Cranial Sutures , Exons , Female , Humans , Molecular Biology , Mothers , Osteogenesis , Sequence Deletion , Tooth , Tooth Eruption , Tooth, Supernumerary , Transcription Factors , Young Adult
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