Purpose: Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS. Materials and Methods: Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected. Results: Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respectively. The repeated mutations were p.Arg273His, p.Ala138Val, and pPro190Leu. The sister with breast cancer harbored the same mutation of p.Ala138Val. Seven patients had multiple primary cancers. Breast cancer was most frequently observed, and other types of tumor included sarcoma, thyroid cancer, pancreatic cancer, brain tumor, adrenocortical carcinoma, ovarian cancer, endometrial cancer, colon cancer, vaginal cancer, skin cancer, and leukemia. The median follow-up period was 51.5 months. Two and four patients showed local recurrence and distant metastasis, respectively. Two patients died of leukemia and pancreatic cancer 3 and 23 months after diagnosis, respectively. Conclusion This study provides information on different characteristics of patients with LFS, including types of mutation, types of cancer, and prognostic outcomes. For more appropriate management of these patients, proper genetic screening and multidisciplinary discussion are required.

Purpose: The ACOSOG Z0011 trial has proven the oncological safety of sentinel lymph node biopsy (SLBx) for node negative breast cancer. Accordingly, treatment paradigm including axilla surgery was changed. We retrospectively reviewed breast cancer patients to evaluate the clinical effect of paradigm shift in breast cancer surgery after applying the Z0011 criteria. Methods: All women who underwent breast-conserving surgery at the National Cancer Center between January 1, 2000, and December 31, 2015, were enrolled and classified according to the Z0011 criteria. The primary endpoint of the study was the disease-free survival rates, and the secondary was the adverse events, especially arm lymphedema. Results: Total 361 patients were enrolled the study (271 axillary lymph node dissection [ALND] group, 90 SLBx group). After the Z0011 guideline was adopted in our institute, the use of ALND decreased, and lymph node sampling (removing only a few axillary lymph nodes) replaced ALND. The total mean number of retrieved nodes were more in ALND group (13.02) than SLBx group (3.43). However, there was no difference in the mean number of positive nodes between two groups (2.34 in ALND group vs. 1.12 in SLBx group, P=0.001). During follow-up, 25 patients experienced disease recurrence: 22 from the ALND group and three from the SLBx group. All of died seven patients were from the ALND group. The ALND group had more complications than the SLBx group (P=0.02). Arm edema occurred more frequently in the ALND group (29.5%) than in the SLBx group (5.6%), although without statistical significance (P=0.07). Conclusion In our study, we concluded that SLBx can be used safely in Z0011-eligible cohort without increased risk of locoregional recurrence. Moreover, we found that omission of ALND is favored to reduce some serious complications such as arm lymphedema.

BACKGROUND: Psoriasis is an immune-mediated, chronic inflammatory disease affecting multiple aspects of patients' lives. Its epidemiology varies regionally; however, nationwide epidemiologic data on psoriasis depicting profile of Korean patients has not been available to date. OBJECTIVE: To understand nationwide epidemiologic characteristics and clinical features of adult patients with psoriasis visited university hospitals in Korea. METHODS: This multicenter, non-interventional, cross-sectional study recruited 1,278 adult patients with psoriasis across 25 centers in Korea in 2013. Various clinical data including PASI, BSA, DLQI, SF-36 and PASE were collected. RESULTS: A total of 1,260 patients completed the study (male:female=1.47:1). The mean age was 47.0 years with a distribution mostly in the 50s (24.9%). Early onset (<40 years) of psoriasis accounted for 53.9% of patients. The mean disease duration was 109.2 months; mean body mass index was 23.9 kg/m²; and 12.7% of patients had a family history of psoriasis. Plaque and guttate types of psoriasis accounted for 85.8% and 8.4%, respectively. Patients with PASI ≥10 accounted for 24.9%; patients with body surface area ≥10 were 45.9%. Patients with DLQI ≥6 accounted for 78.8%. Between PASI <10 and PASI ≥10 groups, significant difference was noted in age at diagnosis, disease duration, blood pressure, waist circumference of female, and treatment experiences with phototherapy, systemic agents, and biologics. CONCLUSION: This was the first nationwide epidemiologic study of patients with psoriasis in Korea and provides an overview of the epidemiologic characteristics and clinical profiles of this patient population.
Adult ; Biological Products ; Blood Pressure ; Body Mass Index ; Body Surface Area ; Cross-Sectional Studies* ; Diagnosis ; Epidemiologic Studies ; Epidemiology ; Female ; Hospitals, University ; Humans ; Korea* ; Phototherapy ; Psoriasis* ; Waist Circumference

BACKGROUND: The development of therapies for psoriasis has led to the need for a new strategy to the treatment of patients with moderate-to-severe psoriasis. New consensus guidelines for psoriasis treatment have been developed in some countries, some of which have introduced treatment goals to determine the timing of therapeutic regimens for psoriasis. OBJECTIVE: To investigate the opinions held by Korean dermatologists who specialize in psoriasis about treatment goals, and to compare these with the European consensus. METHODS: Korean dermatologists who specialize in psoriasis were asked 11 questions about defining the treatment goals for psoriasis. The questionnaire included questions about the factors used to classify the severity of psoriasis, defining the induction and maintenance phases of psoriasis treatment, defining treatment responses during the induction phase, and defining treatment responses during the maintenance phase. RESULTS: The Korean consensus showed responses that were almost similar to the European consensus, even without using the Delphi technique, which uses repeated rounds of questions to reach a consensus. Only one response that related to psoriasis severity in the context of the quality of patients' lives differed from the European consensus. CONCLUSION: The concept of using treatment goals in the treatment of moderate-to-severe psoriasis can be applied to Korean psoriasis patients. Since a tool for assessing the quality of patients' lives is not commonly used in Korea, the development of a simple, rapidly completed, and region-specific health-related quality of life assessment tool would enable treatment goals to be used in routine clinical practice.
Consensus* ; Delphi Technique ; Humans ; Korea ; Psoriasis* ; Quality of Life ; Severity of Illness Index ; Surveys and Questionnaires

Nowadays, tumor necrosis factor-alpha (TNF-alpha) blockers are used for treatment of rheumatoid arthritis, inflammatory bowel diseases, ankylosing spondylitis, psoriatic arthritis, and psoriasis. Paradoxically, there are some reports on the appearance of psoriasis after administration of TNF-alpha blockers. Here, we report on a patient with monoarthritis in a knee joint who experienced psoriasis after TNF-alpha blocker therapy (adalimumab and etanercept). Oral medication was not a treatment option due to patient intolerance; thus, we tried ustekinumab, an anti-interleukin (IL)-12/23 monoclonal antibody used for treatment of psoriasis. Following ustekinumab injection, psoriatic skin lesions and joint symptoms were much improved. However, in the following period, joint pain and swelling became aggravated and synovial fluid cytokine levels including IL-6 and IL-17 were elevated. The treatment was changed to tocilizumab, a humanized monoclonal antibody against IL-6 receptor. After injection, knee joint swelling rapidly subsided without worsening of psoriatic skin lesions.
Arthralgia ; Arthritis, Psoriatic ; Arthritis, Rheumatoid ; Humans ; Inflammatory Bowel Diseases ; Interleukin-17 ; Interleukin-6 ; Joints ; Knee Joint ; Psoriasis* ; Receptors, Interleukin-6 ; Skin ; Spondylitis, Ankylosing ; Synovial Fluid ; Tumor Necrosis Factor-alpha* ; Ustekinumab

BACKGROUND/AIMS: Liver biopsy is a standard method for diagnosis of liver cirrhosis in patients with chronic hepatitis. Because liver biopsy is an invasive method, non-invasive methods have been used for diagnosis of compensated liver cirrhosis in patients with chronic hepatitis. The current study was designed to evaluate the usefulness of ultrasonography and routine blood tests for diagnosis of compensated liver cirrhosis in patients with chronic viral hepatitis. METHODS: Two hundred three patients with chronic viral hepatitis who underwent liver biopsy were included in this study and ultrasonography and routine blood tests were analyzed retrospectively. Ultrasonographic findings, including surface nodularity, parenchyma echogenecity, and spleen size, were evaluated. The diagnostic accuracy of ultrasonography and routine blood tests were examined. RESULTS: Discriminant analysis with forward stepwise selection of variables showed that liver surface nodularity, platelet count, and albumin level were independently associated with compensated liver cirrhosis (p<0.05). Cross-tabulation revealed that the following 4 variables had >95% specificity: platelet count <100,000 /uL; albumin level <3.5 g/dL; INR >1.3; and surface nodularity. If at least one of the four variables exists in a patient with chronic viral hepatitis, we can predict liver cirrhosis with 90% specificity and 61% sensitivity. CONCLUSIONS: These results suggest that four variables (platelet count <100,000 /uL, albumin level <3.5 g/dL, INR >1.3, and surface nodularity) can be used for identification of liver cirrhosis in patients with chronic viral hepatitis with high specificity.
Adult ; Area Under Curve ; Discriminant Analysis ; Female ; Hepatitis, Chronic/*complications ; Hepatitis, Viral, Human/*complications ; Humans ; Liver Cirrhosis/*diagnosis/pathology/ultrasonography ; Male ; Platelet Count ; Predictive Value of Tests ; Retrospective Studies ; Sensitivity and Specificity ; Serum Albumin/analysis

This study was aimed to evaluate the efficacy of a single administration of long-acting gonadotrophin-releasing hormone agonist (GnRHa) as compared with daily administrations of short-acting GnRHa in controlled ovarian hyperstimulation (COH) for in vitro fertilization and embryo transfer (IVF-ET) cycles. The mean dosage of recombinant follicle-stimulating hormone (rFSH) required for COH (2,354.5+/-244.2 vs. 2,012.5+/-626.1 IU) and the rFSH dosage per retrieved oocyte (336.7+/-230.4 vs. 292.1+/-540.4 IU) were significantly higher in the long-acting GnRHa group (N= 22) than those in the short-acting GnRHa group (N=28) (p<0.05). However, the mean number of visit to the hospital that was required before ovum pick-up (3.3+/-0.5 vs. 22.2+/-2.0) and the frequency of injecting GnRHa and rFSH (12.8+/-1.2 vs. 33.5+/- 3.5) were significantly decreased in the long-acting GnRHa group (p<0.0001). The clinical pregnancy rate, implantation rate, and early pregnancy loss rate were not significantly different between the 2 groups. So, we suggest that a single administration of long-acting GnRHa is a useful alternative for improving patient's convenience with clinical outcomes comparable to daily administrations of short-acting GnRHa in COH for IVF-ET cycles.
Adult ; Buserelin/*therapeutic use ; *Embryo Transfer ; Female ; *Fertilization in Vitro ; Follicle Stimulating Hormone/therapeutic use ; Goserelin/therapeutic use ; Humans ; Leuprolide/*therapeutic use

Ovarian pregnancy is rare form of ectopic pregnancy occurring in 0.5-1% of all ectopic pregnancies. But the presenting symptom is very similar and difficult to distinguish with other forms of ectopic pregnancy. We report a case of ovarian pregnancy mimicking cornual pregnancy managed with laparoscopy. Early detection is important role in preserving fertility to avoid the ablation of functional ovarian tissue. The diagnostic criteria, etiology, and management are discussed.
Adenomyosis* ; Female ; Fertility ; Laparoscopy* ; Pregnancy ; Pregnancy* ; Pregnancy, Ectopic*

Anomalies of the intestinal rotation mainly produce clinical manifestations in infants and children, but are uncommon in adults. We report three adult patients who presented with a surgical abdomen and the characteristic computed tomographic findings associated with anomalies of the intestinal rotation. Two patients presented with acute appendicitis, and one presented with an intestinal obstruction caused by colon cancer. In all patients, the computed tomographic findings were suggestive and were helpful for making a preoperative diagnosis of the anomalies of intestinal rotation: (1) a left-sided colon and/or (2) mesenteric vascular inversion. A computed tomographic scan is useful not only for providing an accurate diagnosis of a suspected surgical abdomen but also for detecting associated rotational anomalies, which may require a separate surgical correction.
Abdomen ; Adult* ; Appendicitis ; Child ; Colon ; Colonic Neoplasms ; Diagnosis ; Humans ; Infant ; Intestinal Obstruction

OBJECTIVE: To assess the impact of premenopausal total abdominal hysterectomy (TAH) on the function of remaining ovaries by reviewing the menopausal age in patients treated with total abdominal hysterectomy. METHODS: We retrospectively reviewed medical records of 510 women previously treated with TAH or TAH with unilateral salpingo-oophorectomy (USO) due to benign disease at the department of Obstetric and Gynecology, Yonsei University College of Medicine, between Jan, 1989 and Dec, 1992. Out of 510 women, 94 women who were thoroughly follwed up were included in the study, and their meopausal age based on patients symptoms were compared to those of the control group. RESULT: Mean menopausal age in patients treated with TAH was 46.3+/-3.0 years and in the normal control group was 49.1+/-3.2 years. The mean age of menopause was significantly lowered in patients treated with TAH/TAH with USO (P< 0.001). There was positive correlation between age at operation and menopausal age. CONCLUSION: According to this study, TAH accelerated ovarian dysfunction, and younger the patient is at the time of operation, earlier the menopause. Therefore, woman treated with TAH is at risk of early menopause and should receive adequate hormone replacement therapy.
Female ; Gynecology ; Hormone Replacement Therapy ; Humans ; Hysterectomy* ; Medical Records ; Menopause ; Ovary ; Retrospective Studies