Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked genetic disease manifesting itself in a disproportionate skeletal structure, is caused by mutations in the SEDL gene. Four missense mutations (S73L, V130D, F83S, and D47Y) have been identified by molecular diagnosis as disease-causing SEDT. Nevertheless, how SEDL mutations disrupt the skeletal structure and cause disease remains unknown. We report here the cloning, expression, and characterization of three different missense mutations (S73L, V130D, and D47Y) in mouse SEDL. The overexpression of the D47Y mutation was mainly observed in the supernatant but those of the S73L and V130D mutations are shown in the insoluble pellets. The substitution of the S73L mutation induces the exposure to hydrophobic amino acids and causes aggregation. That of V130D might break hydrophobic interaction and decrease the secondary structure. The CD spectra of three mutants (S73L, V130D, and D47Y) showed that the a-helices decreased more than that of wild-type SEDL. The F83S (stop) mutant might suggest a large conformational change as the mutant V130D. In order to visualize conformational changes in mutated structures, we used molecular modeling techniques minimizing the total energy. These results could provide the biological characterization and conformational information of the SEDL mutants and suggest the clinical severity of the disorder among human SEDL patients

Crystal structure of Cmr5 from Pyrococcus furiosus and its functional implications

AbstractThe bacterial acquired immune system consists of clustered regularly interspaced short palindromic repeats (CRISPRs) and CRIPSR-associated (Cas) genes, which include Cas-module repeat-associated mysterious proteins (Cmr). The six Cmr proteins of Pyrococcus furiosus (pfCmr1–pfCmr6) form a Cmr effector complex that functions against exogenous nucleic acid. Among the Cmr proteins, the role of pfCmr5 and its involvement in the complex’s cleavage activity have been obscure. The elucidated pfCmr5 structure has two inserted α-helices compared with the other trimeric Cmr5 structure. However, pfCmr5 exists as a monomeric protein both in the crystalline state and in solution. In vitro assays indicate that pfCmr5 interacts with pfCmr4. These structural and biophysical data might help in understanding the complicated and ill-characterized Cmr effector complex.Structured summary of protein interactionspfCmr4 and pfCmr5 bind by molecular sieving (View interaction)pfCmr4 and pfCmr4 bind by molecular sieving (View interaction)pfCmr5 and pfCmr4 bind by ion exchange chromatography (View interaction

Improvements of motion vector in variational echo tracking technique by correction of initial guess

Póster presentado en: 3rd European Nowcasting Conference, celebrada en la sede central de AEMET en Madrid del 24 al 26 de abril de 2019

Air-stable n-type operation of Gd-contacted carbon nanotube field effect transistors

We report air-stable n -type operations of the single-walled carbon nanotube field effect transistors (SWNT-FETs) fabricated with Gd electrodes. Unlike previously reported n -type SWNT-FETs, our devices maintained their n -type operation characteristics in ambient atmosphere for more than two months. The shallow Gd films with a thickness below 20 nm are corroded by environmental oxygen, whereas the well-contacted Gd-SWNT interfaces underneath the thick Gd layers are protected from contaminations by air molecules. Theoretical studies based on the first-principles electronic structure calculations confirm that Gd layers have an excellent binding affinity to the SWNTs.open8

Lung cancer with superior vena cava syndrome diagnosed by intravascular biopsy using EBUS-TBNA

AbstractSince superior vena cava syndrome (SVCS) is a critical condition, immediate diagnostic approach and therapy are imperative to avoid potentially life-threatening complications. Here, we report a case of lung cancer with SVCS, which was diagnosed through intravascular tumor biopsy using endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA). EBUS-TBNA enabled us to obtain tissue sufficient for diagnosis, without significant complications. Prompt diagnosis was followed by appropriate anticancer treatment and improvement in the symptoms. For patients suspected of SVCS and requiring prompt pathologic diagnosis, we can consider EBUS-TBNA to diagnose intravascular or mediastinal tumors and provide an accurate diagnosis

Value of Manganese-Enhanced T1- and T2-Weighted MR Cholangiography for Differentiating Cystic Parenchymal Lesions from Cystic Abnormalities which Communicate with Bile Ducts

We present a case report to show how manganese-enhanced T1- and T2-weighted MR cholangiography could differentiate cystic parenchymal lesions from cystic abnormalities which communicate with the bile ducts

Potassium chloride elicits enhancement of bilobalide and Ginkgolides production by Ginkgo biloba cell cultures

This study investigated the ability of potassium chloride (KCl) to elicit the production of bilobalide (BB), ginkgolide A (GA) and ginkgolide B (GB) by Ginkgo biloba cell suspension cultures. The salt stress by KCl treatments increased production of BB, GA and GB in both suspended cells and cultured medium. Especially, treatment of KCl 800 mM of highest concentration was stimulated emission into cultured medium BB, GA and GB compounds accumulated in cells. Although KCl 800 mM severely inhibited cells growth, the maximum content of GA and GB in cells was obtained in the treatment of KCl 800 mM, which was 1.9 and 4.0 times higher than the control. These results thus suggest that salt stress can afford enhanced production of secondary metabolites by plant cell cultures

Hepatic Cavernous Hemangioma in Cirrhotic Liver: Imaging Findings

Objective: To document the imaging findings of hepatic cavernous hemangioma detected in cirrhotic liver. Materials and Methods: The imaging findings of 14 hepatic cavernous hemangiomas in ten patients with liver cirrhosis were retrospectively analyzed. A diagnosis of hepatic cavernous hemangioma was based on the findings of two or more of the following imaging studies: MR, including contrast-enhanced dynamic imaging (n = 10), dynamic CT (n = 4), hepatic arteriography (n = 9), and US (n = 10). Results: The mean size of the 14 hepatic hemangiomas was 0.9 (range, 0.5 1.5) cm in the longest dimension. In 11 of these (79%), contrast-enhanced dynamic CT and MR imaging showed rapid contrast enhancement of the entire lesion during the early phase, and hepatic arteriography revealed globular enhancement and rapid filling-in. On contrast-enhanced MR images, three lesions (21%) showed partial enhancement until the 5-min delayed phases. US indicated that while three slowly enhancing lesions were homogeneously hyperechoic, 9 (82%) of 11 showing rapid enhancement were not delineated. Conclusion: The majority of hepatic cavernous hemangiomas detected in cirrhotic liver are small in size, and in many, hepatic arteriography and/or contrastenhanced dynamic CT and MR imaging demonstrates rapid enhancement. US, however, fails to distinguish a lesion of this kind from its cirrhotic background.ope