島根県・中海の大根島における生業の変遷 －戦後の牡丹苗行商を生み出した背景－

論

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potential genes which may contribute to the phenotype. RESULTS: The identified triplication of 11q12.3 was 557 kb long and not embedded within the duplicated regions. The aberrant region was overlapped with the segment reported to be duplicated in 2 other patients. The common phenotypic features in the present patient and the previously reported patient were brain developmental delay, finger abnormalities (including arachnodactuly, camptodactyly, brachydactyly, clinodactyly, and broad thumbs), and preauricular pits. CONCLUSIONS: Triplications that are not embedded within duplicated regions are rare and sometimes observed as the consequence of non-allelic homologous recombination. The de novo triplication identified in the present study is novel and not embedded within the duplicated region. In the 11q12.3 region, many copy number variations were observed in the database. This may be the trigger of this rare triplication. Because the shortest region of overlap contained 2 candidate genes, STX5 and CHRM1, which show some relevance to neuronal functions, we believe that the genomic copy number gains of these genes may be responsible for the neurological features seen in these patients

Increased Interleukin-8 in Epithelial Lining Fluid of Collapsed Lungs During One-Lung Ventilation for Thoracotomy

The present study was designed to evaluate inflammatory changes in collapsed lungs during one-lung ventilation using the assistance of a bronchoscopic microsampling probe. Serial albumin and interleukin (IL)-8 concentrations in epithelial lining fluid (ELF) were measured in seven patients undergoing resection of lung tumors. The samples were taken after induction of anesthesia (baseline), 30 min after one-lung ventilation was started (point 2), just before resuming two-lung ventilation (point 3), and 30 min after two-lung ventilation was restarted (point 4). The albumin and IL-8 concentrations in ELF were significantly increased at point 2 and point 3, respectively, and remained to be high, compared to the baseline. The increase in IL-8 at point 3 was correlated with the interval of one-lung ventilation; however, none developed specific acute lung injury. These findings suggest that inflammatory changes can occur on the epithelium of a collapsed lung even in patients who underwent successful and standard thoracic surgery.ArticleINFLAMMATION. 35(6):1844-1850 (2012)journal articl

Lipid control profile in patients with acute coronary syndrome at Tokushima Prefectural Central Hospital

In Japan atherosclerosis society guideline, it is recommended for secondary prevention of acute coronary syndrome to manage lipid. In particular, hyper-LDLemia is known to develop and promote atherosclerosis, and lowering the LDL-C level leads to suppression of recurrence of atherosclerosis. We investigated the profile of lipid control in patients who succeeded in percutaneous coronary intervention for acute coronary syndrome（ACS）at our hospital, and examined by high risk patients（chronic kidney disease, diabetes, obesity）. The achievement rate of LDL-C <１００ at discharge was６２％ of all cases, and the achievement rate of LDL-C <７０was only１６％. In particular, only１２％ of obese patients achieved LDL-C <７０. In recent years, it has been shown that additional administration of ezetimibe or PCSK９ inhibitor to statins further lowers LDL-C and significantly reduces the risk of developing cardiovascular disease. We should recognize that some ACS patients have not reached their goals and actively treat them for secondary prevention

Characterization of a sperm factor for egg activation at fertilization of the newt Cynops pyrrhogaster

AbstractEggs of the newt, Cynops pyrrhogaster, arrested at the second meiotic metaphase are activated by sperm at fertilization and then complete meiosis to initiate development. We highly purified a sperm factor for egg activation from a sperm extract with several chromatographies. The purified fraction containing only a 45 kDa protein induced egg activation accompanied by an intracellular Ca2+ increase when injected into unfertilized eggs. Although injection of mouse phospholipase C (PLC) ζ-mRNA caused a Ca2+ increase and egg activation, partial amino acid sequences of the 45 kDa protein were homologous to those of Xenopus citrate synthase, but not to PLCs. An anti-porcine citrate synthase antibody recognized the 45 kDa protein both in the purified fraction and in the sperm extract. Treatment with the anti-citrate synthase antibody reduced the egg-activation activity in the sperm extract. Injection of porcine citrate synthase or mRNA of Xenopus citrate synthase induced a Ca2+ increase and caused egg activation. A large amount of the 45 kDa protein was localized in two lines elongated from the neck to the middle piece of sperm. These results indicate that the 45 kDa protein is a major component of the sperm factor for egg activation at newt fertilization

Association between serum vitamin D levels and skeletal muscle indices in an older Japanese population: The SONIC study

Onishi Y., Akasaka H., Hatta K., et al. Association between serum vitamin D levels and skeletal muscle indices in an older Japanese population: The SONIC study. Geriatrics and Gerontology International, (2024); https://doi.org/10.1111/ggi.14951.Aim: Vitamin D (VD) affects skeletal muscles. The high prevalence of VD deficiency in Japan may lead to decreased skeletal muscle mass and strength, increasing the prevalence of sarcopenia. Therefore, we aimed to investigate the association between serum VD levels and skeletal muscle indices in a Japanese community-dwelling older population. Methods: We extracted data from the Septuagenarians, Octogenarians, Nonagenarians Investigation with Centenarians (SONIC) study. We analyzed the data for participants in the 70s and 90s age groups. Skeletal mass index (SMI) using bioimpedance analysis, grip strength, walking speed, and serum VD levels using 25-hydroxyvitamin D [25(OH)D] were measured. Results: We analyzed the data of 310 participants in their 70s and 48 in their 90s. Mean serum 25(OH)D levels were 21.6 ± 5.0 ng/mL in the 70s group and 23.4 ± 9.1 ng/mL in the 90s group. In the 70s group, serum 25(OH)D levels correlated with SMI (r = 0.21, P < 0.0001) and grip strength (r = 0.30, P < 0.0001). Serum 25(OH)D levels were independently associated with SMI after adjusting for sex, body mass index, and serum albumin levels. In the 90s group, serum 25(OH)D levels were correlated with SMI (r = 0.29, P = 0.049) and grip strength (r = 0.34, P = 0.018). However, the multivariate analysis showed no independent association between SMI, grip strength, and serum 25(OH)D levels. Conclusion: In a cross-sectional analysis of an older population, serum VD levels were associated with SMI and grip strength, and this association was more pronounced in the 70s group than in the 90s group. Our results suggest that serum VD levels maintain skeletal muscle mass and grip strength

重傷外傷の認識が遅れ救急外来で緊急開腹術を行った１例

An８１-year-old man fell down and bruised his left abdomen. After a while the back pain got worse, and he admitted to the Emergency Department. At hospitals admission, several signs of shock were observed, and contrast-enhanced CT revealed a splenic injury. However, it took an hour and a half to diagnose and convene the trauma team because of the lack of information shared among medical staffs and the delay of the recognition as a severe traumatic injury. Since there was no available operation room at the time, nor there wasn’t time to transfer to another hospital, he was forced to undergo emergency open splenectomy at the Emergency Department. That decision saved his life as a result. In ２００２, it revealed that the deaths of about ４０％ of expired trauma patients who arrived at emergency centers were probably preventable. Since then, much progress has been made in establishing and generalizing the trauma care and evaluation guidelines. Our hospital is also making progress in organizing a trauma team and the massive transfusion protocol. However, even if they are well maintained, we won’t be able to decrease the number of preventable trauma deaths（PTD）unless we diagnose it. Improving clinical management as well as making efforts on teamwork, leads to a rapid definitive care in trauma patients