A female newborn had the following characteristics; a congenital localized absence of skin over the lower extremities; blistering of the skin or mucous membrane, incited by trauma, which heals without scarring; and congenital absence or deformity of the nails. In respect to the characteristic manifestation, clinical course and electron microscopic features, our patient seems to fit well into Bart's syndrome. The inheritance pattern appears to be autosomal dominant but, as in this report, isolated cases have been recognized. As the review of the literatures, congenital localized absence of skin has been observed in various subsets of inherited E.B. But, we believe that the term Bart's syndrome should be used to identify patients with good prognosis as the Bart's initial description To the best of our knowedge, this is the first reported case of Bart's syndrome in the korean literature.
Blister ; Cicatrix ; Congenital Abnormalities ; Female ; Humans ; Infant, Newborn ; Inheritance Patterns ; Lower Extremity ; Mucous Membrane ; Prognosis ; Skin

Avulsion injury of the flexor digitorum profundus tendon from distal phalanx is considered as a rare injury. Accrording to the classification by Leddy and Pacter, this case is Type III, which is a large bony fragment retained by the tendon. The distal pulley prevents retraction beyond the middle phalanx. We are reporting a case with brief review of literatures.
Classification ; Tendon Injuries ; Tendons

Some variables can influence the efficiency of leukocyte removal filter for red cell concentrates. We performed this study to evaluate whether the filtration efficiency for platelet concentrates(PCs) can be influenced by bedside filter(PXL8K, Pall Corporation, USA) used, platelet storage time and transient stopping of platelet agitation, and to measure the amount of cytokines released from donor leukocytes in PCs during the storage time. In addition, we examined the effect of leukocyte reduction by filtration before the storage of PCs on the subsequent generation of cytokines. Any of the above mentioned variables did not make significant differences. From day 1 to day 5, there were significant increases in IL-1 beta (<1 vs. 8.6 pg/mL, p<0.05), IL-8 (<10 vs. 455.3 pg/mL, p<0.05) and TNF-alpha (<4 vs. 16.6 pg/mL, p<0.05) in unflltered PCs, whereas no increased revels of cytokines were found in the cases of prestorage filtration.
Blood Platelets* ; Cytokines ; Dihydroergotamine ; Filtration* ; Humans ; Interleukin-1beta ; Interleukin-8 ; Leukocytes* ; Tissue Donors ; Tumor Necrosis Factor-alpha

OBJECTIVE: To investigate psychological distress and fertility quality of life (FertiQoL) in infertile Korean women, and to investigate whether a correlation exists between psychological distress and FertiQoL. METHODS: Participants in this study were made up of 141 infertile women and 65 fertile women. We conducted a survey on psychological distress (using the Depression Anxiety Stress Scales [DASS]-42 questionnaire) and administered a FertiQoL questionnaire. The levels of stress hormones (adrenocorticotropic hormone [ACTH] and cortisol) in serum were assessed. RESULTS: The scores for depression (13.7±8.4), anxiety (10.7±6.4), and stress (18.0±8.3) among the infertile women were significantly higher than the scores for depression (9.4±7.5), anxiety (6.6±6.0), and stress (12.2±8.3, p<0.001) among the fertile women. There was no difference in the scores for depression (13.5±8.2, 13.8±8.6), anxiety (10.0±6.2, 11.5±6.6) and stress (17.7±8.4, 18.4±8.1) between younger (≤34) and older (≥35) participants. The mind-body (r =–0.495) and emotional (r =–0.590) subscales showed a higher negative correlation with stress compared with other scales of psychological distress. At the same time, the social (r =–0.537) and relational (r =–0.385) subscales showed a higher negative correlation with depression. Levels of cortisol and ACTH in infertile women were 9.1 µg/mL and 11.9 pg/mL, respectively, which are within normal ranges. CONCLUSION: The levels of psychological distress and quality of life in infertile Korean women seem to require psychological intervention. This study provides a baseline measurement of psychological distress and FertiQoL in infertile women in Korea, which will be available for developing psychological interventions for infertile Korean women.
Adrenocorticotropic Hormone ; Anxiety ; Depression ; Female ; Fertility* ; Humans ; Hydrocortisone ; Korea ; Quality of Life* ; Reference Values ; Weights and Measures

Objective: To evaluate the severity of depression, anxiety, associated risk factors, and cognitive distortion in Korean patients with ulcerative colitis (UC) and Crohn’s disease (CD). Methods: This study included 369 patients with inflammatory bowel disease. The severity of depression and anxiety was examined using Patient Health Questionnaire-9 and Hospital Anxiety and Depression Scale. The Anxious Thoughts and Tendencies scale was used to measure catastrophizing tendency. Multivariate regression analyses were performed. Results: The predictors of depression were marital status, anti-tumor necrosis factor-α (TNF-α) agent use, age, and body mass index in UC patients and marital status, disease activity, alcohol use, and employment status in CD patients. For anxiety, sex and marital status were the associated factors in UC patients, whereas steroid use was the only significant predictor in CD patients. Comparing the cognitive distortion level, there were no significant differences between UC and CD patients although there was an increasing tendency according to the severity of depression or anxiety. Conclusion If patients are accompanied by high levels of depression or anxiety and their associated risk factors including TNF-α agent or steroid use, it is recommended that not only symptoms are treated but also cognitive approach and evaluation be performed.

Optimal treatments for patients with advanced hepatocellular carcinoma (HCC) are still limited and their prognosis remains dismal. Yet, there have been rare cases that have shed light on longer survival in these patients assisted by various treatments. This paper aims to present an extraordinary case of far advanced HCC that had been properly managed in spite of continuous recurrence. A patient visited the hospital with a ruptured large HCC with main portal vein tumor thrombosis but survived longer than 14 years owing to active and prompt interventions.

Objective: This study investigated whether adding outer-well medium to inhibit osmotic changes in culture media in a dry-type incubator improved the clinical outcomes of in vitro fertilization-embryo transfer (IVF-ET) cycles. Methods: In culture dishes, the osmotic changes in media (20 µL)-covered oil with or without outer-well medium (humid or dry culture conditions, respectively) were compared after 3 days of incubation in a dry-type incubator. One-step (Origio) and G1/G2 (Vitrolife) media were used. Results: The osmotic changes in the dry culture condition (308 mOsm) were higher than in the humid culture conditions (285–290 mOsm) after 3 days of incubation. In day 3 IVF-ET cycles, although the pregnancy rate did not significantly differ between the dry (46.2%) and humid culture (52.2%) groups, the rates of abortion and ongoing pregnancy were significantly better in the humid culture group (2.3% and 50.2%, respectively) than in the dry culture group (8.3% and 37.8%, respectively, p<0.05). In day 5 IVF-ET cycles, the abortion rate was significantly lower in the humid culture group (2.2%) than in the dry culture group (25.0%, p<0.01), but no statistically significant difference was observed in the rates of clinical and ongoing pregnancy between the dry (50% and 25.0%, respectively) and humid culture groups (59.5% and 57.3%, respectively) because of the small number of cycles. Conclusion Hyperosmotic changes in media occurred in a dry-type incubator by evaporation, although the medium was covered with oil. These osmotic changes were efficiently inhibited by supplementation of outer-well medium, which resulted in improved pregnancy outcomes.

OBJECTIVE: To explore potential relationships between sperm DNA integrity and both semen parameters and clinical outcomes. METHODS: Semen analysis of 498 samples was performed according to the 2010 criteria of the World Health Organization. The sperm DNA fragmentation Index (DFI) of the semen samples was assessed using a neutral comet assay. RESULTS: Sperm DFI showed a significant correlation with semen parameters, including the patient's age, sperm viability, motility, morphology, and number of leukocytes (p<0.05). The sperm DFI values for asthenozoospermic (15.2%), oligoteratozoospermic (18.3%), asthenoteratozoospermic (17.5%), and oligoasthenoteratozoospermic semen samples (21.3%) were significantly higher than that observed in normozoospermic semen samples (10.5%, p<0.05). A sperm DFI value of 14% was used as a threshold of sperm DFI in assessing whether DNA was highly damaged. In 114 IVF-ET cycles, the fertilization rate of the sperm DFI <14% group (70 cycles, 61.7%) was significantly higher than that observed for the > or =14% group (44 cycles, 55.3%), but there was no difference in the other clinical outcomes between the two groups. In the > or =14% group, the pregnancy rates of the ICSI cycles (40.0%) and half-ICSI (44.0%) were higher than conventional IVF cycles (30.7%), but the difference was not statistically significant. CONCLUSION: Along with the conventional semen analysis, the sperm DFI assessed using the comet assay was shown to improve the quality of the semen evaluation. To evaluate the precise effect of ICSI on pregnancy rates in the patients who demonstrate high sperm DFI values, further study is necessary.
Comet Assay ; DNA ; DNA Fragmentation ; Fertilization ; Humans ; Leukocytes ; Pregnancy Rate ; Semen ; Semen Analysis ; Sperm Injections, Intracytoplasmic ; Spermatozoa ; World Health Organization

BACKGROUND: TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome. Additional genetic changes, associated with TEL/AML1, are frequently found. We evaluated the prevalence and prognostic significance of TEL/AML1 rearrangement and additional genetic changes in the TEL and AML1 genes in Korean childhood precursor B-ALL. METHODS: We performed FISH using LSITEL/AML1 ES probe (Vysis, USA) in 123 children diagnosed as having precursor B-ALL and assessed clinical relevance of the TEL/AML1 rearrangement and additional genetic abnormalities. RESULTS: The frequency of TEL/AML1 was 17.1% (21/123) in patients with precursor B-ALL. TEL/ AML1-positive group showed male predominance (P=0.012) and younger age of onset than TEL/ AML1-negative group by 1.6 yr (P=0.013). The outcome of TEL/AML1-positive group tended to show lower incidences of relapse (1/21 vs 20/102), death (1/21 vs 17/102) and longer event free survival. Among TEL/AML1-positive patients, unrearranged TEL deletion, AML1 gain, and unrearranged TEL deletion combined with AML1 gain were detected in 61.9%, 23.8%, and 9.5%, respectively. There were no significant differences in the clinical features and outcome according to the presence or absence of additional genetic changes. CONCLUSIONS: The frequency of TEL/AML1 and additional genetic changes in TEL and AML1 is higher than previous studies in Korean children, and in close agreement with usually reported one, 20-25%. TEL/AML1-positive group showed a tendency toward better prognosis. Further study is needed to clarify the prognostic significance of additional changes in TEL and AML1 based on a large sample size.
Age Factors ; Asian Continental Ancestry Group/*genetics ; Child ; Child, Preschool ; Core Binding Factor Alpha 2 Subunit/*genetics ; Disease-Free Survival ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukocyte Count ; Male ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/mortality ; Prognosis ; Proto-Oncogene Proteins c-ets/*genetics ; Repressor Proteins/*genetics ; Republic of Korea ; Survival Rate ; *Translocation, Genetic