Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Purpose: The incidence of human papillomavirus (HPV)-related oropharyngeal cancer (OPC) has increased, and staging and optimal therapeutic approaches are challenging. A questionnaire survey was conducted to investigate the controversial treatment policy of stage T2 OPC according to the N category and determine the opinions of multidisciplinary experts in Korea. Materials and Methods: Five OPC scenarios were developed by the Subcommittee on Oropharyngeal Treatment Guidelines of the Korean Society for Head and Neck Oncology and distributed to experts of multidisciplinary treatment hospitals. Results: Sixty-five experts from 45 institutions responded. For the HPV-positive T2N0M0 scenario, 67.7% of respondents selected surgery followed by definitive concurrent chemoradiotherapy (CCRT) or radiotherapy alone. For the T2N1M0 HPV-positive scenario, there was a notable difference in the selection of primary treatment by expert specialty; 53.9% of respondents selected surgery and 39.8% selected definitive CCRT as the primary treatment. For the T2N3M0 advanced HPV-positive scenario, 50.0% of respondents selected CCRT and 33.3% considered induction chemotherapy (IC) as the primary treatment. CCRT and IC were significantly more frequently selected for the HPV-related OPC cases (p=0.010). The interdepartmental variability showed that the head and neck surgeons and medical oncologists favored surgery, whereas the radiation oncologists preferably selected definitive CCRT (p < 0.001). Conclusion In this study, surgery was preferred for lymph node-negative OPC, and as lymph node metastasis progressed, CCRT tended to be preferred, and IC was administered. Clinical practice patterns by stage and HPV status showed differences according to expert specialty. Multidisciplinary consensus guidelines will be essential in the future.

OBJECTIVE: The Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's disease (KBASE) aimed to recruit 650 individuals, aged from 20 to 90 years, to search for new biomarkers of Alzheimer's disease (AD) and to investigate how multi-faceted lifetime experiences and bodily changes contribute to the brain changes or brain pathologies related to the AD process. METHODS: All participants received comprehensive clinical and neuropsychological evaluations, multi-modal brain imaging, including magnetic resonance imaging, magnetic resonance angiography, [11C]Pittsburgh compound B-positron emission tomography (PET), and [18F]fluorodeoxyglucose-PET, blood and genetic marker analyses at baseline, and a subset of participants underwent actigraph monitoring and completed a sleep diary. Participants are to be followed annually with clinical and neuropsychological assessments, and biannually with the full KBASE assessment, including neuroimaging and laboratory tests. RESULTS: As of March 2017, in total, 758 individuals had volunteered for this study. Among them, in total, 591 participants–291 cognitively normal (CN) old-aged individuals, 74 CN young- and middle-aged individuals, 139 individuals with mild cognitive impairment (MCI), and 87 individuals with AD dementia (ADD)–were enrolled at baseline, after excluding 162 individuals. A subset of participants (n=275) underwent actigraph monitoring. CONCLUSION: The KBASE cohort is a prospective, longitudinal cohort study that recruited participants with a wide age range and a wide distribution of cognitive status (CN, MCI, and ADD) and it has several strengths in its design and methodologies. Details of the recruitment, study methodology, and baseline sample characteristics are described in this paper.
Aging* ; Alzheimer Disease* ; Biomarkers ; Brain* ; Cohort Studies ; Dementia ; Early Diagnosis* ; Genetic Markers ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Mild Cognitive Impairment ; Neuroimaging ; Pathology ; Prospective Studies

PURPOSE: The effects of hepatic resection on patients with metastatic tumors from gastric adenocarcinomas are unclear. Therefore, we analyzed early clinical outcomes in patients who underwent surgical resection for hepatic metastases from gastric adenocarcinomas. MATERIALS AND METHODS: From January 2003 to December 2010, 1,508 patients with primary gastric cancers underwent curative gastric resections at the Korea Cancer Center Hospital. Of these patients, 12 with liver-only metastases underwent curative hepatic resection. Their clinical data were analyzed retrospectively. RESULTS: The median follow-up period was 12.5 months (range, 1~85 months); no operative mortalities or major complications were observed. Three patients underwent synchronous resections, and 9 underwent metachronous resections. In the latter group, the median interval between gastrectomy and hepatectomy for hepatic metastasis was 10.5 months (range, 5~47 months). The overall 1- and 5-year survival rates of these 12 patients were 65% and 39%, respectively, with a median overall survival of 31.0 months; 2 patients survived for >5 years. CONCLUSIONS: Hepatic resection can be a feasible procedure for treating hepatic metastases from gastric adenocarcinomas. Although this study was small and involved only selected cases, the outcomes of the hepatic resections were comparable and long-term (>5 years) survivors were identified. Surgical resection of the liver can be considered a feasible option in managing hepatic metastases from gastric adenocarcinomas.
Adenocarcinoma ; Follow-Up Studies ; Gastrectomy ; Hepatectomy ; Humans ; Korea ; Liver ; Neoplasm Metastasis ; Stomach Neoplasms ; Survival Rate ; Survivors

OBJECTIVE: The aim of this study was to evaluate the influences of uterine septum and their elimination on the reproductive outcomes in women who have history of recurrent spontaneous abortion (RSA) and/or infertility. METHODS: The medical records of reproductive outcomes in patients who have had history of RSA and infertility who were diagnosed with uterine septum only by hysterosalpingogram (HSG) between January 2008 and December 2009 were retrospectively analyzed. The subjects who have had severe male factor, tubal factors, other uterine factors, endocrine abnormalities, peritoneal factors, and abnormal karyotyping among both partners were excluded. In 27 patients, confirmation of diagnosis by laparoscopy and elimination of uterine septum by trans-vaginal hysteroscopy was done. Seventeen patients were strongly suspected to uterine septum on HSG but tried to get pregnancy without any other procedure for evaluation and management of uterine anomaly. Age matched 42 patients who have history of RSA and/or infertility and diagnosed to normal HSG finding at same period were randomly selected as control. The medical records of reproductive outcomes were analyzed and compared between groups. RESULTS: The mean time of observation after diagnosis was 21.8 months (10 to 32). 55.6% (15/27) of patients in patients who received trans-vaginal hysteroscopic uterine septotomy were success to get pregnancies and was significantly higher than that of 17 patients who did not receive proper management (23.5%, 4/17, p<0.05). In control population, 40.5% (17/42) were success to pregnancies and the differences were not statistically significant compared to both two study groups. The live birth rate which was excluded pregnancy loss by abnormal fetal karyotyping and congenital anomaly were 75% (9/12) in treated septated uterus group and 84.6% (11/13) in control group each which have no statistically significant different. In patients with septated uterus who did not receive proper management showed lower delivery rate (50%, 2/4) than that of other groups but was not statistically significant. CONCLUSION: According to present data, women with a uterine septum have an increased chance of successful pregnancy with improved obstetric outcome after proper management of the uterine cavity. And these results were showed in patients with no regard to their reproductive history. But, in case of failed to receive proper management, uterine septum can affect not only pregnancy ongoing but successful pregnancy too.
Abortion, Spontaneous ; Female ; Humans ; Hysteroscopy ; Infertility ; Karyotyping ; Laparoscopy ; Live Birth ; Male ; Medical Records ; Pregnancy ; Reproductive History ; Retrospective Studies ; Uterus

OBJECTIVE: To evaluate the significance and efficacy of trans-cervical fallopian tube catheterization (TFTC) in diagnosis and optimal treatment modality for tubal blockage. METHODS: The retrospective study was performed in those underwent TFTC from January 2005 to December 2009. A total of 342 fallopian tubes in 215 patients which showed tubal blockage in hysterosalpingography (HSG), were subjected to TFTC. Recanalization rate (RR) was compared according to portion of tubal blockage; proximal, isthmic and distal portion and blockage type; tapering, concave, and convex type. RESULTS: In total, RR was 72.5% (248/342 tube). According to the portion of tubal blockage, RR was 83.8% in proximal, 45.6% in isthmic and 100% in distal portion. RR was 92.3% in tapering, 80.2% in concave and 25.5% in convex type, respectively. There were 98 pregnancies in 156 patients after successful recanalization, which shows 62.7% pregnancy rate. CONCLUSION: TFTC were capable of recanalizing tubal blockage in 248 of 342 tubes in 156 of 215 patients (72.5%). The RR was increased with proximal portion and tapering type tubal blockage.
Catheterization ; Catheters ; Fallopian Tubes ; Female ; Humans ; Hysterosalpingography ; Infertility ; Pregnancy ; Retrospective Studies

INTRODUCTION: The prognosis of peri-ampullary cancer is poor because of its low respectability and high recurrence rate. Yet cancer of the Ampulla of Vater(AOV) has a relatively good prognosis. The aim of this study is to investigate the outcomes and to determine the factors that affect the survival rate of patients who underwent curative resection for AOV cancer. METHODS: From August 1988 to January 2008, 54 patients underwent curative resection for AOV cancer. We retrospectively reviewed the clinocopathologic data. The median follow up period was 45 months. RESULTS: Twenty-seven pancreaticoduodenectomies (PD) and 27 pyrolus-preserving pancreaticoduodenectomies (PPPD) were performed. There was no hospital mortality, but 25 out of 54 patients (47.3%) experienced postoperative complications. The 5-year overall survival (OS) rate was 53.97% and the 5-year disease free survival (DFS) rate was 51.75%. On multivariate analysis, the variables that affected the overall survival rate and the disease free survival rate was poor histologic differentiation (p<0.001). CONCLUSIONS: Although the AOV cancer is one of the periampullary cancers that have a very poor outcome, long-term survival and favorable outcomes can be achieved after a curative resection. In this study, poor-histologic differentiation was the only independent factor for a poor prognosis.
Ampulla of Vater ; Disease-Free Survival ; Follow-Up Studies ; Hospital Mortality ; Humans ; Multivariate Analysis ; Pancreaticoduodenectomy ; Postoperative Complications ; Prognosis ; Recurrence ; Retrospective Studies ; Survival Rate

PURPOSE: Malignant phyllodes tumors are rare breast tumors. Information on the prognosis and optimal treatment of these lesions is not yet sufficient. The aim of this study was to determine parameters that predict the recurrence of malignant phyllodes tumors of the breast. METHODS: Retrospectively, we reviewed the medical records and pathological slides of 23 patients with malignant phyllodes tumors that had undergone surgical treatment from 1988 to 2006. The age of the patients, tumor size, type of surgery, resection margin, adjuvant therapy and pathological characteristics of the tumors such as stromal hypercellularity, cellular phleomorphism, mitosis, margins, and stromal pattern were examined. RESULTS: The mean age of the patients was 41 yr. The tumor size ranged from 1 cm to 25 cm, with a median of 7.42 cm. The median follow-up time was 29.0 months. Recurrence was observed in 6 patients (26.1%) and the 5-yr disease free survival was 48.9%. Risk factors for recurrence of a malignant phyllodes tumor were a mitotic index greater than 10 per high-powered field (p=0.0242) and an invasive margin (p=0.0437). CONCLUSION: Frequent mitosis and an invasive margin were the principal determinants of recurrence. Patients with poor prognostic components should be treated more aggressively and the patients need more close follow-up.
Breast Neoplasms ; Breast* ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Medical Records ; Mitosis ; Mitotic Index ; Phyllodes Tumor* ; Prognosis ; Recurrence* ; Retrospective Studies ; Risk Factors*

OBJECTIVES: The authors investigated the possibility of homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) concentrations in plasma to be biological markers before and after the pharmacological treatment of schizophrenia. METHODS: Twenty-six patients with schizophrenia were enrolled after two week washout of neuroleptics. Baseline sampling was done after washout. Consequent samplings were done at two and four week time-points after neuroleptic treatment. The concentrations of HVA and MHPG were analysed with clinical variables, such as age, age of onset, duration of illness, period of hospitalization, and changes of clinical state. The HVA and MHPG were assayed using high pressure liquid chromatographyelectrochemical detection method. RESULTS: A significant association was observed between the age of onset and plasma HVA concentration in washout state of antipsychotics. The earlier onset group had lower plasma HVA concentration than the late onset group. A significant association was observed between the age of onset and plasma MHPG concentration in washout state of antipsychotics. The earlier onset group had lower plasma MHPG concentration than the late onset group. CONCLUSIONS: The present findings suggest that the activities of dopamine and norepinephrine are different with respect to age of onset in the neuroleptic-naive schizophrenia. Plasma HVA and MHPG concentration can be biological markers for the subgrouping of schizophrenia.
Age of Onset* ; Antipsychotic Agents ; Biomarkers ; Dopamine ; Homovanillic Acid* ; Hospitalization ; Humans ; Methoxyhydroxyphenylglycol ; Norepinephrine ; Plasma* ; Schizophrenia*

OBJECTIVE: To evaluate whether diagnostic laparoscopy before transcervical fallopian tube catheterization (TFTC) would improve tubal recanalization rate and pregnancy rate in patients with bilateral proximal tubal blockage in hysterosalpingogram (HSG). METHODS: The retrospective study was performed in those underwent TFTC from January 1998 to December 2001. A total of 50 patients with bilateral proximal tubal blockage in HSG were subjected to TFTC sequentially using repeated HSG (rHSG), selective salpingography (SS) followed by tubal catheterization (TFTC). Each procedure was terminated once patency had been achieved without proceding to the next technique. In Group A patients (n=35, 64 tubes), diagnostic laparoscopy was performed before TFTC was taken to exclude the tube combined with peritubal adhesion or distal tubal pathology. In Group B, patients (n=15, 26 tubes) were performed TFTC without diagnostic laparoscopy. RESULTS: There were significant difference in clinical pregnancy rate (45.7% vs 15.4%, p=0.034) but no differences were found in recanalization rate (75.0% vs 73.1%) and complication rate (8.6% vs 13.3%). Although there is no signficant difference, more tubes were canalized by SS, which means tubal obstruction rather than occlusion, in Group A (25.0% vs 5.3%, p=0.069). CONCLUSION: Diagnostic laparoscopy would be effective in the selection of tube for the relatively inexpensive and less invasive TFTC or patients in need of assisted reproductive technologies. With the tubes without combined peritubal adhesion or distal tubal pathology, pregnancy rate was significantly increased.
Catheterization ; Catheters ; Fallopian Tube Diseases ; Fallopian Tubes* ; Female ; Humans ; Hysterosalpingography ; Infertility* ; Laparoscopy* ; Pathology ; Pregnancy Rate ; Reproductive Techniques, Assisted ; Retrospective Studies