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.

OBJECTIVES: There is a great deal of interest in the possibility that environmental factors may influence the risk of developing allergic rhinitis (AR) in early life. We investigated the simultaneous effects of mode of delivery and duration of breastfeeding on the development of AR in children. METHODS: Data from 1,374 children participating in the Allergic Rhinitis Cohort Study for kids (ARCO-kids study) was analyzed. All subjects were divided into AR or non-allergic rhinitis (NAR) groups. Data on environmental factors, mode of delivery and duration of breastfeeding were collected using a questionnaire. RESULTS: Compared with short-term breastfeeding (<6 months), long-term breastfeeding (≥12 months) was significantly associated with a lower prevalence of AR (adjusted odds ratio [aOR], 0.54; 95% confidence interval [CI], 0.34 to 0.88). Children in the AR group also had a higher cesarean delivery rate than those in the NAR group (39.1% vs. 32.8%, P=0.05). Regarding the combined effects of mode of delivery and duration of breastfeeding, long-term breastfeeding with a vaginal delivery strongly suppressed the development of AR, compared to short-term breastfeeding with a cesarean delivery (aOR, 0.47; 95% CI, 0.30 to 0.73). CONCLUSION: Long-term breastfeeding (≥12 months) and a vaginal delivery are associated with a lower risk of developing childhood AR.
Breast Feeding ; Cesarean Section ; Child ; Cohort Studies ; Delivery, Obstetric ; Female ; Humans ; Odds Ratio ; Pregnancy ; Prevalence ; Rhinitis ; Rhinitis, Allergic

BACKGROUND/AIMS: Propofol is widely used for sedation during endoscopy. Because propofol may cause hepatic encephalopathy, hemodynamic compromise, and respiratory depression, cautious use is required in patients with liver cirrhosis. We evaluated the safety and efficacy of propofol in compensated cirrhosis during endoscopic examination. METHODS: Thirty-nine cirrhotic patients (19 and 20 cases of Child Pugh classes A and B, respectively) and 56 control subjects were included. The initial dose of propofol (40 mg) was increased by 20-mg increments until moderate sedation was achieved. The number connection test, flapping tremor test, blood pressure, heart rate, oxygen saturation, liver enzymes, and prothrombin time were evaluated before and after endoscopy. RESULTS: No significant change was observed in any parameter compared to baseline in either group. The mean dose of propofol was significantly lower in cirrhotic versus control subjects (49.7+/-15.8 versus 65.0+/-17.9 mg, respectively; p<0.001). Scores based on a visual analog scale evaluating patient satisfaction did not differ between groups (72+/-27 versus 64+/-26, respectively; p=0.196), nor did mean recovery time (16.4+/-9.8 versus 14.2+/-6.7 min, respectively; p=0.186). CONCLUSION: Propofol is safe and effective for moderate sedation in compensated liver cirrhosis.
Child ; Conscious Sedation ; Endoscopy ; Fibrosis ; Heart Rate ; Hematologic Tests ; Hemodynamics ; Hepatic Encephalopathy ; Humans ; Liver ; Liver Cirrhosis ; Oxygen ; Patient Satisfaction ; Propofol ; Prothrombin Time ; Respiratory Insufficiency ; Tremor

BACKGROUND/AIMS: The removal of esophageal and gastric submucosal tumors is difficult using conventional endoscopic mucosal resection methods. This study examined the usefulness of an endoscopic subtumoral dissection for an en-bloc resection of submucosal tumors. METHODS: An endoscopic subtumoral dissection was attempted for an en-bloc resection in 15 submucosal tumors (M: F=10 : 5, 13 stomach, 2 esophagus). Before the procedures, endoscopic ultrasonography was performed in all cases. The procedure was carried out using various electrosurgical knives, such as an endoscopic submucosal dissection. RESULTS: Pathological and immunohistochemical studies confirmed a gastrointestinal stromal tumor in 6 cases. Other pathological diagnoses were made in 9 patients with submucosal lesions: leiomyoma (4), ectopic pancreas (3), lipoma (1), and hemangioma (1). An en-bloc resection was performed in 13 of the 15 tumors (86.7%). The mean specimen size was 29.5x21.1 mm. The mean procedure time was 49.4 minutes (range: 8~103 minutes). Gastric perforation was a complication in 2 cases with GIST. However, the two perforated cases were treated with endoscopic closure using endoclips and recovered without the need for surgery. CONCLUSIONS: An endoscopic subtumoral dissection technique is useful for an en-bloc resection of esophageal and gastric submucosal tumors. However, sufficient attention should be paid to the detection of perforations in the case of tumors with a proper muscle origin.
Endosonography ; Gastrointestinal Stromal Tumors ; Hemangioma ; Humans ; Leiomyoma ; Lipoma ; Muscles ; Pancreas ; Stomach

BACKGROUND/AIMS: Bowel preparation for colonoscopy remains an unpleasant experience because oral solutions have unpleasant tastes and may provoke abdominal pain, nausea, vomiting, and sleep disturbance. Duodenoscopic bowel preparation is an alternative method for patients who are unwilling to take oral preparation solution or for those who are supposed to have both gastroscopic and colonoscopic examination on the same day. We assessed the effectiveness and tolerance of duodenoscopic bowel preparation. METHODS: Patients in group OA (orally administered) ingested 45 mL of sodium phosphate (NaP) in the evening before the day of procedure and in the morning on the day of colonoscopy, whereas patients in group EA (endoscopically administered) were prepared for the procedure by duodenoscopic infusion of 90 mL of NaP diluted with 180 mL of water into the second portion of the duodenum. After 4 hours, we assessed the overall quality of colonic cleansing, using a range of excellent to inadequate. The patients completed a questionnaire on their preparation-associated symptoms, tolerance, and preference. RESULTS: In group EA, sleep disturbance (p<0.05) and nausea (p<0.05) occurred less frequently than in group OA. Overall, the tolerance rating for preparation was higher in group EA. However, the quality of colonic cleansing and cecum intubation time was not different between the two groups. Patients in group EA who had ingested NaP in the past preferred duodenoscopic bowel preparation. CONCLUSIONS: Duodenoscopic bowel preparation may play a role in colonic cleansing especially for patients who are scheduled to undergo gastroscopic and colonoscopic examination on the same day and for those who are unwilling to ingest NaP.
Administration, Oral ; Adult ; Aged ; Cathartics/*administration & dosage/adverse effects ; *Colonoscopy ; *Duodenoscopy ; Female ; Humans ; Image Enhancement ; Irrigation ; Male ; Middle Aged ; Phosphates/*administration & dosage/adverse effects/chemistry ; Questionnaires ; Treatment Outcome

BACKGROUND/AIMS: Bowel preparation for colonoscopy remains an unpleasant experience because oral solutions have unpleasant tastes and may provoke abdominal pain, nausea, vomiting, and sleep disturbance. Duodenoscopic bowel preparation is an alternative method for patients who are unwilling to take oral preparation solution or for those who are supposed to have both gastroscopic and colonoscopic examination on the same day. We assessed the effectiveness and tolerance of duodenoscopic bowel preparation. METHODS: Patients in group OA (orally administered) ingested 45 mL of sodium phosphate (NaP) in the evening before the day of procedure and in the morning on the day of colonoscopy, whereas patients in group EA (endoscopically administered) were prepared for the procedure by duodenoscopic infusion of 90 mL of NaP diluted with 180 mL of water into the second portion of the duodenum. After 4 hours, we assessed the overall quality of colonic cleansing, using a range of excellent to inadequate. The patients completed a questionnaire on their preparation-associated symptoms, tolerance, and preference. RESULTS: In group EA, sleep disturbance (p<0.05) and nausea (p<0.05) occurred less frequently than in group OA. Overall, the tolerance rating for preparation was higher in group EA. However, the quality of colonic cleansing and cecum intubation time was not different between the two groups. Patients in group EA who had ingested NaP in the past preferred duodenoscopic bowel preparation. CONCLUSIONS: Duodenoscopic bowel preparation may play a role in colonic cleansing especially for patients who are scheduled to undergo gastroscopic and colonoscopic examination on the same day and for those who are unwilling to ingest NaP.
Administration, Oral ; Adult ; Aged ; Cathartics/*administration & dosage/adverse effects ; *Colonoscopy ; *Duodenoscopy ; Female ; Humans ; Image Enhancement ; Irrigation ; Male ; Middle Aged ; Phosphates/*administration & dosage/adverse effects/chemistry ; Questionnaires ; Treatment Outcome

BACKGROUND/AIMS: The increasing trend of antibiotic resistance emphasizes the need for the assessment of eradication rate of first and second-line therapy for Helicobacter pylori (H. pylori) infection. The reinfection rate depends on the geographical, national, or socioeconomic status of the patients. The aim of this study was to evaluate the recent 5-year changes of eradication rates and the reinfection rates after the successful eradication of Helicobacter pylori infection for 3-years follow-up in Bucheon, Korea. METHODS: From February 2001 to August 2006, 3,267 patients with H. pylori-positive peptic ulcer disease received the first-line therapy for 7 days. The 317 patients who failed to the first-line therapy received the second-line therapy for 7 days. The 167 patients with 3-years follow-up after the successful eradication were included. (13)C-urea breath tests or rapid urease tests and histologies were assessed to determine the H. pylori status after the eradication. RESULTS: The eradication rate of first-line therapy was 83.7% in 2001, 83.4% in 2002, 83.7% in 2003, 85.9% in 2004, 87.2% in 2005, and 81.8% in 2006 by per protocol analysis (PP), respectively. The eradication rate of second-line therapy was 80.0% in 2002, 86.8% in 2003, 89.7% in 2004, 98.0% in 2005, and 78.8% in 2006 by PP. The cumulative reinfection rate was 6.0%. The annual reinfection rate was 2.0%. The recurrence rate of peptic ulcer was 17.2% in the patients without reinfection and 50% with reinfection. CONCLUSIONS: The eradication rate for H. pylori have not changed in the recent 5-years. The annual reinfection rate was low. The successful eradication of H. pylori was effective for preventing the recurrence of peptic ulcers.
Adult ; Aged ; Aged, 80 and over ; Anti-Bacterial Agents/therapeutic use ; Demography ; Female ; Follow-Up Studies ; Helicobacter Infections/*drug therapy/prevention & control ; Helicobacter pylori/*drug effects ; Humans ; Male ; Middle Aged ; Peptic Ulcer/microbiology/therapy ; Recurrence ; Remission Induction ; Time Factors ; Treatment Outcome

The purpose of this study was to determine the effect of twin-to-twin delivery interval on umbilical artery acid-base status of the second twin at birth. This was a retrospective cohort study of all live-born twins with measured acid-base status in umbilical arterial blood who were delivered after 34 weeks' gestation from June 2003 to February 2006. Twins with any maternal or fetal complications were excluded. Subjects were divided into two groups based on the mode of delivery of the first twin: normal cephalic vaginal deliveries (n=40) or cesarean deliveries (n=67). The inter-twin differences in umbilical arterial blood pH, PCO2, PO2, and base excess in twin newborns born vaginally were significantly greater than the corresponding differences in those born by cesarean section. A significant positive correlation was found between twin-to-twin delivery interval and inter-twin difference in umbilical arterial blood pH in twin newborns born vaginally. The umbilical arterial blood pH of the second twin was less than 7.0 in 14% (2/14) in cases delivered more than 20 min after the first twin. The umbilical arterial blood gas status of the second twin worsened with increasing twin-to-twin delivery interval, and pathologic fetal acidemia (pH<7.0) might develop in the second twin when the twin-to-twin delivery interval was greater than 20 min.
Umbilical Arteries/*chemistry ; Twins/*blood ; Time Factors ; Statistics ; Retrospective Studies ; Infant, Newborn ; Hydrogen-Ion Concentration ; Humans ; Delivery, Obstetric/*methods ; Cohort Studies ; *Acid-Base Equilibrium

OBJECTIVE: The objective of this study is to compare the pregnancy outcomes and postnatal developmental problems according to the types of cleft lip and/or palate, and to evaluate the increase of the risk of the presence of cleft palate. METHODS: Retrospective analysis was performed in 96 cases of cleft lip and/or palate that were delivered, aborted, or terminated at Seoul National University Hospital from January 1990 to July 2004. The cases of cleft lip and/or palate were categorized based on the Nyberg's classification, and cleft palate alone was added to it. According to the types, the frequencies of associated anomaly and chromosomal anomaly were assessed, and the frequencies of termination, spontaneous abortion, fetal death in utero, and infant death were compared. When long-term follow-up was possible among the surviving infants, we compared the frequencies of ventilatory tube insertion into the middle ear, hearing problem, and speech-language problem. We evaluated the increase of the risk in the presence of cleft palate. RESULTS: Associated anomalies were present in 23.7% (9/38) of cases with cleft lip alone and in 55.1% (32/58) of those with cleft palate. The most common associated anomaly was cardiac anomaly. The surviving infants with cleft palate showed significantly higher rates of ventilatory tube insertion (70.0% [14/20] vs 3.1% [1/32]) and speech-language problem (42.1% [8/19] vs 10.7 % [3/28]) than those with cleft lip alone. The presence of cleft palate increased the risk of occurrence of associated anomaly (OR 3.97), termination (OR 5.20), infant death (OR 12.96), ventilatory tube insertion (OR 72.33), and speech-language problem (OR 6.06). CONCLUSION: Associated cleft palate in patients with cleft lip has a poor impact on pregnancy outcomes, middle ear disease, and speech-language problem. Therefore, during the prenatal screening ultraso-nography, the careful examination should be directed for the detection of cleft palate in cases with cleft lip.
Abortion, Spontaneous ; Classification ; Cleft Lip* ; Cleft Palate* ; Ear, Middle ; Female ; Fetal Death ; Follow-Up Studies ; Hearing ; Humans ; Infant ; Palate ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Retrospective Studies ; Seoul

The cavernous hamangioma is a relatively rare intracranial vascular malformation and generally asymptomatic, Seizure is the most common clinical presentation and the hemorrhage is the second. Because reproductive females have the hormonal and hemodynamic changes, the first symptoms might develope in the gestational period. As we experienced a case of intracranial cavernous hemangioma initially diagnosed in pregnancy with new-onset seizures, we report this case with a brief review of literature.
Female ; Hemangioma, Cavernous* ; Hemodynamics ; Hemorrhage ; Humans ; Pregnancy* ; Seizures ; Vascular Malformations