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Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder caused by pathogenic germline variants of mainly SMAD4 or BMPR1A genes. Some patients with JPS, especially with SMAD4 variants, also develop hereditary, hemorrhagic telangiectasia (HHT). HHT is also an autosomal dominant inherited disorder. Herein, we identified a novel germline pathogenic variant of the SMAD4 in a Japanese family with JPS and HHT. A six-base pair deletion in the SMAD4 gene (NM_005359.6:c.1495_1500delTGCATA) was identified in the patients. Two amino acids are deleted from SMAD4 protein (p.Cys499_Ile500del), which are located in MSH2 domain essential for the binding with SMAD3. This is a novel variant that has not been registered in any database surveyed. Amino acid structural analysis predicted significant changes in the secondary and three-dimensional structures in the vicinity of the two amino acids’ deletion. The variant is classified as ‘Likely Pathogenic’ according to the American College of Medical Genetics and Genomics guidelines.

Knockout mice of diacylglycerol kinase (DGK) η, which has been repeatedly suggested to be associated with bipolar disorder (BPD) by genome-wide association studies, exhibited abnormal behaviors similar to the manic phase of BPD. Chronic stress is also linked to changes in mood symptoms, including BPD. In the present study, we analyzed the effects of the glucocorticoid stress hormones, triamcinolone acetonide (TAA) and dexamethasone (DEX), on DGKη protein levels in neuroblastoma cell lines, Neuro-2a and SH-SY5Y. The protein levels of DGKη were significantly increased in the undifferentiated Neuro-2a and SH-SY5Y cells by TAA and DEX, but not in the differentiated neuroblastoma cells. To assess the functions of DGKη in undifferentiated neuroblastoma cells, we established DGKη-deficient SH-SY5Y cells using the clustered regularly interspaced palindromic repeat/caspase 9 system. Notably, proliferation of DGKη-deficient SH-SY5Y cells was markedly attenuated, concomitant with the decrease in levels of phosphorylated extracellular signal-regulated kinase. Taken together, these results suggest that DGKη levels are increased in undifferentiated neuroblastoma cells by glucocorticoid stress hormones and regulate cell proliferation.

Histiocytic sarcoma is a relatively new disease category and the gastrointestinal origin is sporadic. We report a case of a 74-year-old woman who underwent chemotherapy and proximal gastrectomy for extremely rare, advanced gastric histiocytic sarcoma. The resected specimen was subjected to numerous immunostainings to meet the diagnostic criteria of histiocytic sarcoma and was positive for the histiocyte markers' cluster of differentiation 68 and lysozyme. The markers of Langerhans cells, follicular dendritic cells, and myelocyte were all negative. Six reports of surgical resection of histiocytic sarcoma originating in the stomach exist, including our case. We reviewed the clinical course and the histological and immunohistochemical diagnostic features of surgically resected gastric histiocytic sarcoma.

Reports of gastric collision tumors, comprising adenocarcinoma and gastrointestinal stromal tumor, are extremely rare. Here, we report the case of a 68-year-old male who was diagnosed with a lower-body, moderately differentiated, tubular-type adenocarcinoma and submucosal tumor and underwent an elective D2 distal gastrectomy. The tumor cells of the gastrointestinal stromal tumor were positive for H-caldesmon and CD117, weakly positive for smooth muscle actin and DOG-1, and negative for desmin, S-100 protein, CD31, and AE1/AE3. The tumor had grown into a mixed form of adenocarcinoma and gastrointestinal stromal tumor. Thus, we report the first case of a preoperatively diagnosed collision tumor in the stomach consisting of adenocarcinoma and gastrointestinal stromal tumor.

Colorectal cancer (CRC) is the third most common cancer worldwide, and surgical treatment remains the first-line treatment to provide a cure. In addition to the aging population, obesity, low physical activity, and smoking habits increase CRC risk. Despite advances in surgical techniques, chemotherapy, and radiotherapy, colorectal cancer remains the second leading cause of cancer-related deaths worldwide. For early-stage CRC, endoscopic treatment, including endoscopic mucosal resection and endoscopic submucosal dissection, has been performed. However, lymph node dissection is an integral part of surgical treatment for advanced-stage cancer because of the high incidence of lymph node metastasis. Conventional open surgery has evolved into laparoscopic and robotic surgery. Although prospective studies have confirmed the safety and feasibility of laparoscopic surgery for CRC, relevant treatment models of transverse colon cancer and rectal cancer still need to be further explored and validated. Furthermore, multidisciplinary treatment is needed to cure CRC completely. This review aimed to provide an update on recent advances in the surgical treatment of CRC.

The impact of clinical response to taxanes plus ramucirumab (RAM) on overall survival (OS) has not been clarified for advanced gastric cancer (AGC), although this type of therapy is already in use as second-line chemotherapy (CTx). This study aimed to investigate the prognostic impact of the clinical response to taxanes plus ramucirumab (RAM) for AGC patients.This study included AGC patients treated with paclitaxel (PTX) or nab-paclitaxel (nab-PTX) and RAM. A retrospective analysis of response and survival rates in consecutive medical records of patients was performed.Forty-two patients were enrolled. Median progression-free survival and OS were 5.4 months [95% confidence interval (CI)=4.440-6.361] and 11.8 months (95% CI=8.648-15.019), respectively. In Cox-hazard multivariate analysis, peritoneal metastasis [hazard ratio (HR)=2.830; 95% CI=1.320-6.067; p=0.008], and disease control rate (HR=0.310; 95% CI=0.129-0.741; p=0.008) were independent factors.The response to taxanes plus RAM CTx had an impact on the survival of patients with AGC.

Through the use of a new homemade probe, the angular dependences of the dc and ac susceptibilities of single crystals of [Tb3+(ZnL)2]CF3SO3 (H3L denotes a tripodal hexadentate Schiff base ligand) w...

The preoperative diagnosis of cecal volvulus (CV) is rare and difficult and emergent laparotomy is frequently performed. Here, we report a case of CV that was diagnosed by preoperative computed tomography in a patient with an intellectual disability. In addition, we demonstrate that elective laparoscopic cecopexy can be performed following conservative treatment, such as the use of an ileus tube per anus.

Chylous ascites associated with radical resection of gastric cancer is a serious clinical condition. Lymph node dissection is indispensable during gastrectomy for gastric cancer. However, postoperative chylous ascites prolongs the hospital stay and re-operation. There are few reports on this subject. Most cases of chylous ascites resolve without treatment, but the condition can result in substantial morbidity. The definition of chylous ascites is ambiguous and varies in the English literature. In this report, we discuss a case of chylous ascites in a 68-year-old man who underwent distal gastrectomy for early gastric cancer at our hospital. He was admitted 8 months after surgery with a main complaint of abdominal swelling. Abdominal puncture helped to diagnose chylous ascites with marked elevation of triglyceride level. The patient received a hypercaloric infusion through a central line, and octreotide acetate, but did not improve. After assessment of lymph outflow by lymph scintigraphy, surgical ligation of the lymph vessels was performed through laparotomy. The volume of milky-white ascites in the abdominal cavity was 3,000 mL. Macroscopically, the fluid was confirmed as flowing from behind the common hepatic artery. Thus, ligation was performed. Chylous ascites has not recurred at 12 months after the re-operation. In summary, a case of chylous ascites after radical gastrectomy for gastric cancer was successfully treated by surgery. We review and discuss the relevant literature.

The human mass balance of [14 C]Z-215, a novel proton pump inhibitor, was characterised in six healthy male volunteers following single oral administration of [14 C]Z-215 (20 mg, 3.7 MBq) to determ...

Limy bile syndrome extending to the common bile duct (CBD) is a rare condition that lacks a standardized treatment. Laparoscopic cholecystectomy with laparoscopic choledocholithotomy by CBD exploration is preferred because it preserves the function of the sphincter of the Vater's papilla and allows treatment of both lesions. A 37-year-old man who was receiving entecavir for chronic hepatitis B developed right upper quadrant pain. Abdominal ultrasonography revealed a calcified shadow in the gallbladder and CBD. Abdominal imaging revealed a liquid-like material identified by a calcified shadow in two phases separated by a fluid-fluid level. Abdominal and 3-D drip infusion cholangiography CT showed stones in the gallbladder and CBD with limy bile. The patient underwent laparoscopic cholecystectomy and choledocholithotomy. Intraoperatively, white-yellow-colored bile and stones were drained from the CBD. A C-tube was placed. Postoperatively, remnant stones and radiopaque materials were absent. The stones comprised of >95% calcium carbonate.

Limy bile syndrome extending to the common bile duct (CBD) is a rare condition that lacks a standardized treatment. Laparoscopic cholecystectomy with laparoscopic choledocholithotomy by CBD exploration is preferred because it preserves the function of the sphincter of the Vater's papilla and allows treatment of both lesions. A 37-year-old man who was receiving entecavir for chronic hepatitis B developed right upper quadrant pain. Abdominal ultrasonography revealed a calcified shadow in the gallbladder and CBD. Abdominal imaging revealed a liquid-like material identified by a calcified shadow in two phases separated by a fluid-fluid level. Abdominal and 3-D drip infusion cholangiography CT showed stones in the gallbladder and CBD with limy bile. The patient underwent laparoscopic cholecystectomy and choledocholithotomy. Intraoperatively, white-yellow-colored bile and stones were drained from the CBD. A C-tube was placed. Postoperatively, remnant stones and radiopaque materials were absent. The stones comprised of95% calcium carbonate.

OsWRKY53, a chitin oligosaccharide elicitor-responsive rice WRKY gene, has been found to be involved in defense responses in rice. We identified three tandem W-box elements, putative recognition sites for WRKY transcription factors, as cis elements that are essential to the elicitor-responsiveness of OsWRKY53 by deletion and mutation analysis of the promoter by dual luciferase assay.

Thermal response of N-isopropylacrylamide (NiPAM) gel particles of submicron size was investigated by means of ultrasonic velocity and density focusing on the hydration and dehydration behavior. Hydration number, defined as the number of water molecules bound to one NiPAM monomer unit, was quantitatively evaluated in the course of the volume phase transition. Hydration numbers at low and high temperatures were about 7.5 (20 °C) and 3 (40 °C), respectively. Hydration number decreases markedly near the volume phase transition temperature, and the decrease is responsible to the formation of hydrophobic bonding and dehydration. The hydration number is independent both of the size and the composition of gel particles in the shrunken state, although there exists a composition dependence in the swollen state. It was also found that the self-assemblies formed by hydrophobic interaction are more bulky compared to those in the hydrated state.

UTokyo Research掲載「イネの耐病性向上に成功」 URI: http://www.u-tokyo.ac.jp/ja/utokyo-research/research-news/enhanced-disease-resistance-in-rice-plants/, UTokyo Research "Enhanced disease resistance in rice plants" URI: http://www.u-tokyo.ac.jp/en/utokyo-research/research-news/enhanced-disease-resistance-in-rice-plants/

In order to examine the role of αC domains, especially the terminal region of it, of fibrinogen Aα chain in the fibrin gel formation, we prepared a recombinant fibrinogen, Aα570 fibrinogen. Aα570 fibrinogen is the fibrinogen that is truncated at Aα570 and lacks 40 amino acids at the terminus of the αC domain. We examined the thrombin-catalyzed polymerization by transmission spectroscopy and confocal laser scanning microscopy (CLSM). We found that Aα570 fibrinogen exhibited a significantly delayed aggregation showing the importance of the terminal region of the αC domain in the polymerization process. Contrary to the fact that the addition of glucose to the mixture of fibrinogen and thrombin results in a substantial delay of the lateral aggregation of protofibrils for the native fibrinogen, delaying effect due to the addition of glucose disappeared thoroughly in the case of Aα570 fibrinogen. Turbidity measurements dependent upon the wavelength in the time course of gelation showed that mass per unit fiber length of Aα570 fibrinogen decreased significantly compared to the native fibrinogen, and the lateral aggregation of protofibrils was hindered significantly. Those results are consistent with the CLSM measurements that the bundles of protofibrils of Aα570 fibrinogen are thinner and denser with more branching than those of the native one. It was confirmed that C-terminal region of the αC domain plays an important role in the lateral aggregation and glucose interferes the interacting process between the αC domains.

Gelation dynamics and gel structure of fibrinogen induced by serine protease, thrombin, was investigated by light scattering, real space observation using confocal laser scanning microscopy (CLSM), and turbidity. Effects of additives, such as (linear) saccharides, glucose to dextran, and cyclodextrin, were studied focusing on the interaction with fibrin(ogen) and thrombin. Light scattering measurement was ascertained to be able to characterize the gelation process and growth kinetics. Stepwise (two-step) gelation process, formation of fibrin monomers and protofibrils followed by the lateral aggregation to form fibrin fibers and gel network, was clearly ascertained. Gelation point could be characterized quantitatively. At the gelation point, dynamic light scattering exhibited a self-similar nature of the fibrin gel network, and the fractal dimension was evaluated in good accordance with the reconstructed 3D image of gel network by CLSM. The interaction between the additives and fibrin(ogen) and thrombin were studied by the inhibition test using synthesized substrate. Temporal variation of microstructure of fibrin gel network (lateral fiber growth) was investigated by turbidity in detail. Addition of saccharides affects significantly the network formation as revealed by turbidity. The interaction of dextran with fibrin fibers was examined by fluorescence microscopy, too, and the characteristic spatial distribution was observed.