Correlation of DEFA1 Gene Copy Number Variation with Intestinal Involvement in Behcet's Disease

Copy number variation has been associated with various autoimmune diseases. We investigated the copy number (CN) of the DEFA1 gene encoding α-defensin-1 in samples from Korean individuals with Behcet's disease (BD) compared to healthy controls (HC). We recruited 55 BD patients and 35 HC. A duplex Taqman® real-time PCR assay was used to assess CN. Most samples (31.1%) had a CN of 5 with a mean CN of 5.4 ± 0.2. There was no significant difference in the CN of the DEFA1 gene between BD patients and HC. A high DEFA1 gene CN was significantly associated with intestinal involvement in BD patients. Variable DEFA1 gene CNs were observed in both BD patients and HC and a high DEFA1 gene CN may be associated with susceptibility to intestinal involvement in BD

Pregnancy outcomes in twin pregnancies over 10 years

Objective The aim of this study was to evaluate the changes in twin pregnancy outcomes between 2007 and 2016 in a Korean population. Methods The data for this nationwide population-based study was obtained from the national birth registry of the Korean National Statistical Office and the Health Insurance Review & Assessment Service of Korea. Women with twin pregnancies who gave birth between 2007 and 2016 were included. Results From 2007 to 2016, the rate of twin pregnancies increased (1.37% vs. 1.91%, respectively, P<0.0001). The risk of preterm birth (adjusted odds ratio [aOR], 1.77; 95% confidence interval [CI], 1.66–1.89) also increased; however, the risk of twin growth discordance (aOR, 0.90; 95% CI, 0.82–0.99) decreased. The risks of cesarean section (aOR, 1.16; 95% CI, 1.03–1.29), gestational diabetes mellitus (aOR, 2.10; 95% CI, 1.83–2.39), and postpartum hemorrhage (aOR, 1.27; 95% CI, 1.14–1.41) all increased from 2007 to 2016. Conclusion Twin pregnancy outcomes have changed significantly in Korea over a recent 10-year period

Extracellular High-Mobility Group Box 1 is Increased in Patients with Behçet's Disease with Intestinal Involvement

High-mobility group box 1 (HMGB1) protein has been demonstrated to play an important role in chronic inflammatory diseases including rheumatoid arthritis, and systemic lupus erythematosus. This study investigated the association between extracellular HMGB1 expression and disease activity, and clinical features of Behçet's disease (BD). Extracellular HMGB1 expression in the sera of 42 BD patients was measured and was compared to that of 22 age- and sex-matched healthy controls. HMGB1 expression was significantly increased in BD patients compared to healthy controls (78.70 ± 20.22 vs 10.79 ± 1.90 ng/mL, P = 0.002). In addition, HMGB1 expression was significantly elevated in BD patients with intestinal involvement compared to those without (179.61 ± 67.95 vs 61.89 ± 19.81 ng/mL, P = 0.04). No significant association was observed between HMGB1 concentration and other clinical manifestations, or disease activity. It is suggested that extracellular HMGB1 may play an important role in the pathogenesis of BD

Corticospinal Tract Compression by Hematoma in a Patient with Intracerebral Hemorrhage: A Diffusion Tensor Tractography and Functional MRI Study

The purpose of this study was to demonstrate corticospinal tract compression that was due to a hematoma by using diffusion tensor tractography (DTT) and functional MRI (fMRI) in a patient with an intracerebral hemorrhage (ICH). A 23-year-old right-handed woman presented with severe paralysis of her right extremities at the onset of a spontaneous ICH. Over the first three days from onset, the motor function of the affected upper and lower extremities rapidly recovered to the extent that she was able to overcome applied resistance to the affected limbs, and her limbs regained normal function 3 weeks after onset. The tract of the right hemisphere originated from the primary sensori-motor cortex (SM1) and it passed through the known corticospinal tract pathway. However, the tract of the left hemisphere was similar to that of the right hemisphere except that it was displaced to the antero-medial side by the hematoma at the cerebral peduncle. Only the contralateral SM1 area centered on the precentral knob was activated during affected (right) or unaffected (left) hand movements, respectively. In conclusion, fMRI and DTT demonstrated a corticospinal tract compression due to hematoma in this patient. We conclude that the combined use of these two modalities appears to improve the accuracy of investigating the state of the corticospinal tract

Two Dosages of Oral Fluoropyrimidine S-1 of 35 and 40 mg/m2 bid: Comparison of the Pharmacokinetic Profiles in Korean Patients with Advanced Gastric Cancer

Objective: In this study, we compared the pharmacokinetic profiles of 5-fluorouracil (5-FU), tegafur, 5-chloro-2,4-dihydroxypyridine (CDHP) and potassium oxonate (Oxo) after adminis-tration of S-1 at 35 or 40 mg/m2 bid for 28 consecutive days, in Cycles 1 and 3, in patients with advanced gastric cancer. Methods: Three patients were enrolled for each dosage. S-1 dosage was assigned based on body surface area (BSA), which is different from the Japanese dosing system. The median daily dose per BSA was 76 mg/m2, ranging from 70 to 88 mg/m2. Results: Plasma levels of 5-FU, tegafur, CDHP and Oxo at 4 h post-dose reached steady-state on day 8. The estimated steady-state level was dependent on S-1 dosage. There were no intercyclic differences of pre-dose and 4 h post-dose levels between Cycles 1 and 3, implying no cumulative effect of S-1 was shown probably due to 2-week drug-resting period. Pharmacokinetic profiles on day 28 were similar to previous Japanese report. Cmax and AUC0–48h values of each S-1 component increased depending on S-1 dosage. Pharmacokinetic parameters were not correlated with tumor response or toxicity. Conclusions: We suggest that these pharmacokinetic profiles of Asian population could provide a basis for schedule optimization and for additional studies on interaction with other antitumor drugs. Key words: S-1 – gastric cancer – pharmacokinetics – Asian populatio

Impact of Caveolin-1 Expression on the Prognosis of Transitional Cell Carcinoma of the Upper Urinary Tract

This study aimed to investigate the relationship of caveolin-1 expression with prognosis in patients with transitional cell carcinoma of the upper urinary tract (TCC-UUT). Formalin-fixed, paraffin-embedded tissue sections of TCC-UUT from 98 patients, who had undergone radical nephroureterectomy, were stained immunohistochemically using antibodies against caveolin-1. The expression pattern of caveolin-1 was compared with the clinicopathological variables. The caveolin-1 expression was significantly correlated with T stage (p<0.001) and grade (p=0.036). The survival rate of patients with caveolin-1 positive tumors was significantly lower than that of patients with caveolin-1 negative tumors (p<0.0001). The univariate analyses identified T stage, grade, and caveolin-1 expression as significant prognostic factors for cancer-specific survival, whereas the multivariate analyses indicated that T stage and caveolin-1 expression were independent prognostic factors. These results show that the increased expression of caveolin-1 is associated with tumor progression and poor prognosis in TCC-UUT, suggesting that caveolin-1 may play an important role in the progression of TCC-UUT

Prenatally Detected Congenital Perineal Mass Using 3D Ultrasound which was Diagnosed as Lipoblastoma Combined with Anorectal Malformation: Case Report

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also normal. As the fetus grew up, the mass size was slowly increased more and more. At birth, a female neonate had a perineal mass on the right side as expected. During operation, the anal sphincteric displacement was found near the mass and reconstructed through posterior sagittal incision. This is the first reported case of prenatally diagnosed congenital perineal mass, after birth which was diagnosed as lipoblastoma and even combined with anorectal malformation. This case shows that it can be of clinical importance to be aware of this rare fetal perineal mass in prenatal diagnosis and counseling