Purpose: Preclinical data indicate that response to radiotherapy (RT) depends on DNA damage repair. In this study, we investigated the role of mutations in genes related to DNA damage repair in treatment outcome after RT. Materials and Methods: Patients with solid tumor who participated in next generation sequencing panel screening using biopsied tumor tissue between October 2013 and February 2019 were reviewed and 97 patients that received RT were included in this study. Best response to RT and the cumulative local recurrence rate (LRR) were compared according to absence or presence of missense, nonsense, and frameshift mutations in ATM and/or BRCA1/2. Results: Of the 97 patients, five patients harbored mutation only in ATM, 22 in only BRCA1/2, and six in both ATM and BRCA1/2 (ATMmtBRCAmt). Propensity score matching was performed to select the control group without mutations (ATMwtBRCAwt, n=33). In total, 90 RT-treated target lesions were evaluated in 66 patients. Highest objective response rate of 80% was observed in ATMmtBRCAmt lesions (p=0.007), which was mostly durable. Furthermore, the cumulative 1-year LRR was the lowest in ATMmtBRCAmt lesions and the highest in ATMwtBRCAwt lesions (0% vs. 47.9%, p=0.008). RT-associated toxicities were observed in 10 treatments with no significant difference among the subgroups (p=0.680). Conclusion Tumors with ATM and BRCA1/2 mutations exhibited superior tumor response and local control after RT compared to tumors without these mutations. The results are hypothesis generating and suggest the need for integrating the tumor mutation profile of DNA repair genes during treatment planning.

PURPOSE: The severity of non-alcoholic fatty liver disease (NAFLD) in type 2 diabetes mellitus (T2DM) population compared with that in normal glucose tolerance (NGT) individuals has not yet been quantitatively assessed. We investigated the prevalence and the severity of NAFLD in a T2DM population using controlled attenuation parameter (CAP). MATERIALS AND METHODS: Subjects who underwent testing for biomarkers related to T2DM and CAP using Fibroscan® during a regular health check-up were enrolled. CAP values of 250 dB/m and 300 dB/m were selected as the cutoffs for the presence of NAFLD and for moderate to severe NAFLD, respectively. Biomarkers related to T2DM included fasting glucose/insulin, fasting C-peptide, hemoglobin A1c (HbA1c), glycoalbumin, and homeostasis model assessment of insulin resistance of insulin resistance (HOMA-IR). RESULTS: Among 340 study participants (T2DM, n=66; pre-diabetes, n=202; NGT, n=72), the proportion of subjects with NAFLD increased according to the glucose tolerance status (31.9% in NGT; 47.0% in pre-diabetes; 57.6% in T2DM). The median CAP value was significantly higher in subjects with T2DM (265 dB/m) than in those with pre-diabetes (245 dB/m) or NGT (231 dB/m) (all p<0.05). Logistic regression analysis showed that subjects with moderate to severe NAFLD had a 2.8-fold (odds ratio) higher risk of having T2DM than those without NAFLD (p=0.02; 95% confidence interval, 1.21-6.64), and positive correlations between the CAP value and HOMA-IR (ρ=0.407) or fasting C-peptide (ρ=0.402) were demonstrated. CONCLUSION: Subjects with T2DM had a higher prevalence of severe NAFLD than those with NGT. Increased hepatic steatosis was significantly associated with the presence of T2DM, and insulin resistance induced by hepatic fat may be an important mechanistic connection.
Adult ; Aged ; Biomarkers/metabolism ; C-Peptide/metabolism ; Case-Control Studies ; Diabetes Mellitus, Type 2/*complications/metabolism ; Female ; Hemoglobin A, Glycosylated/metabolism ; Humans ; Insulin Resistance ; Male ; Middle Aged ; Non-alcoholic Fatty Liver Disease/*epidemiology/metabolism/pathology ; Odds Ratio ; Prevalence

OBJECTIVE: Symptoms of posterior reversible encephalopathy syndrome (PRES) include headache, altered mental status, visual disturbances, and seizures. Typical radiological features include edema of the parieto-occipital lobes. The purpose of this study is to review the clinical and radiological findings in patients diagnosed with PRES. METHODS: All patients diagnosed with PRES between January 2006 and December 2012 were retrospectively included in this study. We reviewed demographic and clinical characteristics, and radiological findings. RESULTS: We identified 16 patients with PRES. The most common clinical presentation was seizure (n = 12, 75%). Clinical recovery occurred in all patients within days (mean, 5.7 +/- 4.6 days). Comorbid conditions included hypertension (n = 4, 25%), cytotoxic medications (n = 3, 18.8%), sepsis (n = 4, 25%), malignancy (n = 4, 25%), subarachnoid hemorrhage (n = 1, 6.3%), autoimmune disorders (n = 1, 6.3%) and eclampsia (n = 1, 6.3%). The most commonly involved location was the parieto-occipital lobe (n = 13, 81.3%). Atypical radiological findings included significant basal ganglia involvement in 4 episodes; brainstem in 3, cerebellum in 2, and thalamus in 3. Eleven patients (68.8%) underwent diffusion-weighted imaging and apparent diffusion coefficient mapping. Of those, 9 patients (81.8%) had hypo- or isointensity on diffusion-weighted imaging. On the apparent diffusion coefficient map, 10 patients (90.9%) had hyperintensity, and the other had normal values. CONCLUSION: We suggest that PRES may occur in patients with complex systemic conditions. The prognosis of PRES is usually benign. Physicians should be aware of certain atypical radiological findings to avoid a delayed diagnosis of PRES, as delayed diagnosis and treatment can result in permanent neurological sequlae.
Basal Ganglia ; Brain Stem ; Cerebellum ; Delayed Diagnosis ; Diffusion ; Eclampsia ; Edema ; Female ; Headache ; Humans ; Hypertension ; Pregnancy ; Prognosis ; Retrospective Studies ; Seizures ; Sepsis ; Subarachnoid Hemorrhage ; Thalamus

OBJECTIVE: Symptoms of posterior reversible encephalopathy syndrome (PRES) include headache, altered mental status, visual disturbances, and seizures. Typical radiological features include edema of the parieto-occipital lobes. The purpose of this study is to review the clinical and radiological findings in patients diagnosed with PRES. METHODS: All patients diagnosed with PRES between January 2006 and December 2012 were retrospectively included in this study. We reviewed demographic and clinical characteristics, and radiological findings. RESULTS: We identified 16 patients with PRES. The most common clinical presentation was seizure (n = 12, 75%). Clinical recovery occurred in all patients within days (mean, 5.7 +/- 4.6 days). Comorbid conditions included hypertension (n = 4, 25%), cytotoxic medications (n = 3, 18.8%), sepsis (n = 4, 25%), malignancy (n = 4, 25%), subarachnoid hemorrhage (n = 1, 6.3%), autoimmune disorders (n = 1, 6.3%) and eclampsia (n = 1, 6.3%). The most commonly involved location was the parieto-occipital lobe (n = 13, 81.3%). Atypical radiological findings included significant basal ganglia involvement in 4 episodes; brainstem in 3, cerebellum in 2, and thalamus in 3. Eleven patients (68.8%) underwent diffusion-weighted imaging and apparent diffusion coefficient mapping. Of those, 9 patients (81.8%) had hypo- or isointensity on diffusion-weighted imaging. On the apparent diffusion coefficient map, 10 patients (90.9%) had hyperintensity, and the other had normal values. CONCLUSION: We suggest that PRES may occur in patients with complex systemic conditions. The prognosis of PRES is usually benign. Physicians should be aware of certain atypical radiological findings to avoid a delayed diagnosis of PRES, as delayed diagnosis and treatment can result in permanent neurological sequlae.
Basal Ganglia ; Brain Stem ; Cerebellum ; Delayed Diagnosis ; Diffusion ; Eclampsia ; Edema ; Female ; Headache ; Humans ; Hypertension ; Pregnancy ; Prognosis ; Retrospective Studies ; Seizures ; Sepsis ; Subarachnoid Hemorrhage ; Thalamus

PURPOSE: This study was performed in order to determine the changes over time in preventable and potentially preventable traumatic death rates, and to assess the factors that affected the deaths of trauma patients which occurred in Korean pre-hospital and hospital settings. METHODS: All trauma deaths occurring either in the emergency department (ED) or after admission at twenty Korean hospitals between August 2009 and July 2010 were retrospectively analyzed. The deaths were initially reviewed by a team of multidisciplinary specialists and classified into non-preventable, potentially preventable, and preventable deaths. Only preventable and potentially preventable deaths were the subject of our analysis. Structured data extraction included patient demographics, vital signs, injury severity, probability of survival, preventability of mortality, reported errors in the evaluation and management of the patient, and classification of error types (system, judgment, knowledge). RESULTS: During the study period, 446 trauma victims died in the ED or within 7 days after admission. The mean age was 52 years, 74.1% were men and the mean time from injury to death was 35.6 hours. The most common cause of death was head injury (44.7%) followed by hemorrhage (30.8%) and multi-organ failure (8.0%). The rates of preventable/potentially preventable deaths were 35.2% overall and 29.8% when limited to patients surviving to admission. Of all death classifications, 31.2% were potentially preventable and 4.0% were preventable. Errors leading to preventable death occurred in the emergency department (51.2%), pre-hospital setting (30.3%) and during inter-hospital transfer (60.8%). Most errors were related to clinical management (48.4%) and structural problems in the emergency medical system (36.5%). CONCLUSION: The preventable death rates for Korean trauma victims were higher than those found in other developed countries, possibly due to poorly established emergency medical systems for trauma victims in pre-hospital and hospital settings. A system wide approach based on the emergency medical system and well-developed in-hospital trauma teams should be adopted in order to improve the quality of care of trauma victims in Korea.
Cause of Death ; Craniocerebral Trauma ; Demography ; Developed Countries ; Emergencies ; Emergency Medical Services ; Hemorrhage ; Humans ; Judgment ; Korea ; Male ; Retrospective Studies ; Specialization ; Vital Signs

BACKGROUND/AIMS: The prevalence of gastroesophageal reflux disease (GERD) in Korea was believed to be low until now. Korea is now believed to be on the evolving stage of GERD in its' prevalence. The aims of this study were to evaluate the epidemiologic and clinicopathologic characteristics among the subgroups of GERD i.e. non-erosive GERD (NERD), erosive GERD (ERD) and Barrett's esophagus (BE), and the role of Helicobacter pylori (H. pylori) infection in the pathogenesis of GERD. METHODS: A total of 253 patients with typical symptoms of GERD who underwent EGD were enrolled from October 2002 to January 2004. Patients were grouped as NERD, ERD or BE based on the symptoms and endoscopic findings. BE was histologically confirmed if necessary. Various clinical parameters including the status of H. pylori infection were analyzed. RESULTS: Among 253 patients, 106 patients were classified as NERD while 116 and 31 patients were classified as ERD and BE group respectively. BE and ERD group showed no gender predilection while NERD showed female preponderance (2.31:1, p<0.05). NERD group were younger (49.57 y.o.) than BE (57.87 y.o.) and ERD (52.30 y.o.) group. About three quarters of the patients of erosive esophagitis were LA-A (74.2%) grade. This suggests the mild nature of erosive esophagitis in Korea. ERD showed significantly higher BMI (kg/m2) compared to NERD (p<0.05). Hiatal hernia was frequently associated with BE and ERD (p<0.05), but less frequently in NERD. Overall H. pylori positivity among GERD was significantly lower than the age and gender matched control group (p<0.05). CONCLUSIONS: Subgroups of GERD in Korea showed different epidemiologic and clinical characteristics. Lower rate of H. pylori infection among GERD group may reflect the protective role of H. pylori infection regarding GERD prevalence in Korea.
Aged ; Barrett Esophagus/diagnosis/drug therapy/microbiology ; Female ; Gastroesophageal Reflux/diagnosis/drug therapy/*microbiology ; Helicobacter Infections/*complications/drug therapy/epidemiology ; *Helicobacter pylori ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Prevalence

BACKGROUND: Cystic neoplasms of the pancreas are being recognized with increased frequency. In 1993, a report on 123 cases of cystic neoplasms of the pancreas diagnosed over a period of 32 years was published in Korea. Many changes on the concept of cystic neoplasms of the pancreas have been made, including classification and diagnostic criteria. The present study was conducted wherein a new survey on cystic neoplasms of the pancreas in Korea. METHODS: Cystic neoplasms of the pancreas diagnosed over a period of 12 years, from 1993 to 2004 in 25 university hospitals throughout Korea were collected. They were classified according to the World Health Organization classification of cystic neoplasms of the pancreas. RESULTS: A total of 1264 cases of cystic neoplasms of the pancreas were diagnosed. The diagnoses and frequencies are as follows: intraductal papillary mucinous neoplasm, 499 (39.5%); mucinous cystic neoplasm, 318 (25.2%); serous cystic neoplasm, 232 (18.4%); solid pseudopapillary neoplasm, 192 (15.2%); cystic endocrine neoplasm, 11 (0.8%); lymphoepithelial cyst, 8 (0.6%); acinar cell neoplasm, 3 (0.2%); mature teratoma, 1 (0.1%). Increase in the annual number of diagnoses was evident. In intraductal papillary mucinous neoplasm and mucinous cystic neoplasm, a significant increase in mean age was seen in patients with malignant neoplasms. CONCLUSIONS: Cystic neoplasms of the pancreas are diagnosed with increasing frequency in Korea, the most common being intraductal papillary mucinous neoplasm of the pancreas. In intraductal papillary mucinous neoplasm and mucinous cystic neoplasm, the grade of dysplasia increased with mean age, suggesting an adenoma-carcinoma sequence.
Acinar Cells ; Classification ; Diagnosis ; Hospitals, University ; Humans ; Korea* ; Mucins ; Pancreas* ; Teratoma ; World Health Organization

BACKGROUND AND OBJECTIVES: This study was done to evaluate the safety of Gore-Tex as a nasal implant. Materials and METHOD: A retrospective multicenter study was carried out on 15 surgeons from 11 general hospitals and 4 private practice clinics regarding the safety of the Gore-Tex as a nasal implant. The study involved 853 patients, of whom 656 received primary surgery and 197 revision surgery. Gore-Tex was mainly used as a dorsal implant in a form of sheet or as a reinforced nasal implant. RESULTS: The overall complication rate associated with Gore-Tex was 2.5% (21 cases). Infection was the most common complication (18 cases ; 2.1%) followed by 2 cases of seroma and 1 case of persistent nasal swelling. In 19 out of 21 complication cases, the graft needed removal to control the infection or seroma (91% removal rate). Nine cases of infection developed in both primary cases (1.37%) and in revision cases (4.57%), which suggests a higher association rate between infection and revision cases (p=0.0062). Infection developed within 1 month in 5 cases while 9 cases developed infection after 6 months of operation. Other complications such as aesthetic problems (malpositioning of the implant or dorsal irregularities) were found in 15 cases (1.8%) and hematoma in 1 case. CONCLUSION: The infection rate of Gore-Tex used in rhinoplasty was about 2% and it rose significantly in the revision cases. If infected, almost all of the implanted Gore-Tex needs removal; therefore, we suggest judicious use of Gore-Tex in rhinoplasty.
Hematoma ; Hospitals, General ; Humans ; Polytetrafluoroethylene* ; Private Practice ; Retrospective Studies ; Rhinoplasty* ; Seroma ; Transplants

BACKGROUND/AIMS: We aimed to evaluate the long-term outcome of patients with MALT lymphoma in respect to various treatment modalities and clinicopathologic characteristics, including endoscopic findings. We also tried to deduce suitable strategic guideline to treat MALT lymphoma. METHODS: We retrospectively studied 55 patients (24 males and 31 females) aged 23 to 74 years who had primary low-grade gastric MALT lymphoma that were diagnosed between May 1992 and August 2002. RESULTS: The majority of endoscopic findings showed lesions with ulceration or with color and surface change of mucosa. All but one was H. pylori positive when tested. Treatment modalities included anti H. pylori treatment, radiation, surgery and/or chemotherapy. Eradication was successful in all the 29 patients associated with H. pylori infection. Complete remission was obtained in 24 patients (82.8%). Only one patient suffered a relapse after 28 months during the follow up (2~74 months). The duration to reach complete remission was 12 months (85 percentile, 2~33 months). Six patients showed complete remission with radiation therapy. Two of them were H. pylori treatment failure cases. One of 14 patients treated by surgery displayed relapse during follow-up (12~20 months). Endoscopically, the ulcerative and/or the protruding type showed unfavorable response to anti H. pylori treatment. CONCLUSION: H. pylori eradication alone should be considered as an initial treatment for MALT lymphoma and radiation therapy could be preferred in patients with no evidence of H. pylori infection or who do not response to H. pylori eradication therapy 12 months after successful eradication.
Drug Therapy ; Endoscopes ; Follow-Up Studies* ; Humans ; Lymphoma, B-Cell, Marginal Zone* ; Male ; Mucous Membrane ; Recurrence ; Retrospective Studies ; Treatment Failure ; Ulcer

Spontaneous total necrosis of hepatocellular carcinoma is extremely rare, with only 15 cases reported to date in the English literature, and the involved mechanism remains unresolved. This paper describes a case of spontaneous necrosis of hepatocellular carcinoma in a 70-year-old man with chronic hepatitis. The patient suffered epigastric pain on admission and computed tomography revealed a 4 cm mass with low density in the left lobe of the liver. Fine needle aspiration biopsy revealed a few scattered, naked and irregular nuclei exhibiting nuclear hyperchromasia in the dirty necrotic background, a finding highly suggestive of malignancy. The lobectomized liver revealed a 3.5 cm, well encapsulated, round, and nearly totally necrotic mass. On microscopic examination, the tumor was found to be composed of thick trabeculae of necrotic tumor cells, supporting the diagnosis of hepatocellular carcinoma. After surgery and throughout 13 months of follow up the patient has recovered well.
Aged ; Carcinoma, Hepatocellular/*pathology ; Case Report ; Human ; Liver Neoplasms/*pathology ; Male ; Necrosis ; Thrombosis/*pathology