Adrenoleukodystrophy 1례

We describe a 9-year-old boy who showed typical neurologic manifestations i.e., progressive behavioral changes, intellectual impairment, visual disturbances and hearing loss, cerebellar and pyramidal signs with characteristic neuroimaging features, which led us to make a clinical deagnosis of ALD. It was confirmed later by demonstration of increased VLCFA levels in RBC membrane using HPLC. He has no family history of neurologic or endocrine disorder. Prophylactic antiepileptic medicaion could not prevent the development of seizure disorder

The Protective Effect of Apamin on LPS/Fat-Induced Atherosclerotic Mice

Apamin, a peptide component of bee venom (BV), has anti-inflammatory properties. However, the molecular mechanisms by which apamin prevents atherosclerosis are not fully understood. We examined the effect of apamin on atherosclerotic mice. Atherosclerotic mice received intraperitoneal (ip) injections of lipopolysaccharide (LPS, 2 mg/kg) to induce atherosclerotic change and were fed an atherogenic diet for 12 weeks. Apamin (0.05 mg/kg) was administered by ip injection. LPS-induced THP-1-derived macrophage inflammation treated with apamin reduced expression of tumor necrosis factor (TNF)-α, vascular cell adhesion molecule (VCAM)-1, and intracellular cell adhesion molecule (ICAM)-1, as well as the nuclear factor kappa B (NF-κB) signaling pathway. Apamin decreased the formation of atherosclerotic lesions as assessed by hematoxylin and elastic staining. Treatment with apamin reduced lipids, Ca2+ levels, and TNF-α in the serum from atherosclerotic mice. Further, apamin significantly attenuated expression of VCAM-1, ICAM-1, TGF-β1, and fibronectin in the descending aorta from atherosclerotic mice. These results indicate that apamin plays an important role in monocyte/macrophage inflammatory processing and may be of potential value for preventing atherosclerosis

Simple Quantification of Pentosidine in Human Urine and Plasma by High-Performance Liquid Chromatography

Pentosidine is an advanced glycation end-product (AGE) and fluorescent cross-link compound. A simple high-performance liquid chromatographic (HPLC) method was developed for the detection and quantification of pentosidine in human urine and plasma. The mobile phase used a gradient system to improve separation of pentosidine from endogenous peaks, and chromatograms were monitored by fluorescent detector set at excitation and emission wavelengths of 328 and 378 nm, respectively. The retention time for pentosidine was 24.3 min and the lower limits of quantification (LLOQ) in human urine and plasma were 1 nM. The intraday assay precisions (coefficients of variation) were generally low and found to be in the range of 5.19–7.49% and 4.96–8.78% for human urine and plasma, respectively. The corresponding values of the interday assay precisions were 9.45% and 4.27%. Accuracies (relative errors) ranged from 87.9% to 115%. Pentosidine was stable in a range of pH solutions, human urine, and plasma. In summary, this HPLC method can be applied in future preclinical and clinical evaluation of pentosidine in the diabetic patients

IGRINS Spectral Library

We present a library of high-resolution (R $\equiv$ $\lambda$/$\Delta$$\lambda$ $\sim$ 45,000) and high signal-to-noise ratio (S/N $\geq$ 200) near-infrared spectra for stars of a wide range of spectral types and luminosity classes. The spectra were obtained with the Immersion GRating INfrared Spectrograph (IGRINS) covering the full range of the H (1.496-1.780 $\mu$m) and K (2.080-2.460 $\mu$m) atmospheric windows. The targets were primarily selected for being MK standard stars covering a wide range of effective temperatures and surface gravities with metallicities close to the Solar value. Currently, the library includes flux-calibrated and telluric-absorption-corrected spectra of 84 stars, with prospects for expansion to provide denser coverage of the parametric space. Throughout the H and K atmospheric windows, we identified spectral lines that are sensitive to $T_\mathrm{eff}$ or $\log g$ and defined corresponding spectral indices. We also provide their equivalent widths. For those indices, we derive empirical relations between the measured equivalent widths and the stellar atmospheric parameters. Therefore, the derived empirical equations can be used to calculate $T_\mathrm{eff}$ and $\log g$ of a star without requiring stellar atmospheric models.Comment: 65 pages, 27 figures, 8 tables, accepted for publication in ApJ

Alpha-Methylacyl-Coenzyme A Racemase-Expressing Urachal Adenocarcinoma of the Abdominal Wall

Urachal adenocarcinomas are very rare and about one third of these neoplasms arise in urachal remnants. To demonstrate the origin of the urachal adenocarcinoma is not easy, but it is very important for managing patient care. We report on a 35-year-old man who complained of a palpable mass in the periumbilical area. The mass was incidentally identified 10 days earlier. Computed tomography revealed a well-defined enhancing mass with internal calcification and septation abutting on the dome of the urinary bladder. The clinical diagnosis was urachal cancer, which seemed to invade the urinary bladder. Thus, we performed mass excision and partial resection of the bladder. Histopathologically, the mass was diagnosed as mucinous cystadenocarcinoma originating from urachal remnants that showed an unusual expression of alpha-methylacyl-coenzyme A racemase (AMACR). To our knowledge, this report is the first case of AMACR-expressing urachal adenocarcinoma arising in the abdominal wall

Predictive value of progression-related gene classifier in primary non-muscle invasive bladder cancer

<p>Abstract</p> <p>Background</p> <p>While several molecular markers of bladder cancer prognosis have been identified, the limited value of current prognostic markers has created the need for new molecular indicators of bladder cancer outcomes. The aim of this study was to identify genetic signatures associated with disease prognosis in bladder cancer.</p> <p>Results</p> <p>We used 272 primary bladder cancer specimens for microarray analysis and real-time reverse transcriptase polymerase chain reaction (RT-PCR) analysis. Microarray gene expression analysis of randomly selected 165 primary bladder cancer specimens as an original cohort was carried out. Risk scores were applied to stratify prognosis-related gene classifiers. Prognosis-related gene classifiers were individually analyzed with tumor invasiveness (non-muscle invasive bladder cancer [NMIBC] and muscle invasive bladder cancer [MIBC]) and prognosis. We validated selected gene classifiers using RT-PCR in the original (165) and independent (107) cohorts. Ninety-seven genes related to disease progression among NMIBC patients were identified by microarray data analysis. Eight genes, a progression-related gene classifier in NMIBC, were selected for RT-PCR. The progression-related gene classifier in patients with NMIBC was closely correlated with progression in both original and independent cohorts. Furthermore, no patient with NMIBC in the good-prognosis signature group experienced cancer progression.</p> <p>Conclusions</p> <p>We identified progression-related gene classifier that has strong predictive value for determining disease outcome in NMIBC. This gene classifier could assist in selecting NMIBC patients who might benefit from more aggressive therapeutic intervention or surveillance.</p

Granular Cell Tumor of the Urinary Bladder

A 67-year-old Korean man presented with gross, painless hematuria that had lasted for the previous 2 months. Cystoscopy showed a semispherical tumor approximately 1 cm in diameter that was covered with normal bladder mucosa and extended from the bladder neck to the posterior wall of the bladder. The patient underwent transurethral resection of the tumor. Histological examination and immunohistochemical staining showed a granular cell tumor (GCT). There were no features suggesting a malignant phenotype. On follow-up, the patient has remained free of bladder recurrence. We herein report this case of a GCT of the urinary bladder and review the literature

Effect of Jeju Water on Blood Glucose Levels in Diabetic Patients: A Randomized Controlled Trial

Jeju water is the groundwater of Jeju Island, a volcanic island located in Republic of Korea. We investigated whether Jeju water improved glycemic control in patients with diabetes. This was a 12-week single-center, double-blind, randomized, and controlled trial. The subjects daily drank a liter of one of three kinds of water: two Jeju waters (S1 and S2) and Seoul tap water (SS). The primary outcome was the proportion of patients in the per-protocol (PP) population achieving glycated hemoglobin (HbA1c) < 7.0% at week 12. In total, 196 patients were randomized and analyzed in the intention-to-treat (ITT) population (66 consuming S1, 63 consuming S2, and 67 consuming SS); 146 patients were considered in the PP population. There were no significant differences in the primary outcomes of the groups consuming S1, S2, or SS. However, the percentage of patients achieving HbA1c < 8% was significantly higher in the S2 group than in the SS group. In the ITT population, the 12-week HbA1c and fructosamine levels were lower in the S1 group than in the SS group and the 4-, 8-, and 12-week fructosamine levels were lower in the S2 group than in the SS group. Although we failed to achieve the primary outcome, it is possible that the Jeju waters improve glycemic control compared with the Seoul tap water in diabetic patients