Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.

Background & Aims: A genome-wide association study (GWAS) of 280 cases identified the hepatic cholesterol transporter ABCG8 as a locus associated with risk for gallstone disease, but findings have not been reported from any other GWAS of this phenotype. We performed a large-scale, meta-analysis of GWASs of individuals of European ancestry with available prior genotype data, to identify additional genetic risk factors for gallstone disease.

Methods: We obtained per-allele odds ratio (OR) and standard error estimates using age- and sex-adjusted logistic regression models within each of the 10 discovery studies (8720 cases and 55,152 controls).

Miscellaneous Topics in Computer-Aided Drug Design: Synthetic Accessibility and GPU Computing, and Other Topics.

Computer-aided drug design is still a state-of-the-art process in medicinal chemistry, and the main topics in this field have been extensively studied and well reviewed. These topics include compound databases, ligand-binding pocket prediction, protein-compound docking, virtual screening, target/off-target prediction, physical property prediction, molecular simulation and pharmacokinetics/pharmacodynamics (PK/PD) prediction. Message and Conclusion: However, there are also a number of secondary or miscellaneous topics that have been less well covered.

Room-temperature local ferromagnetism and its nanoscale expansion in the ferromagnetic semiconductor Ge(1-x)Fex.

We investigate the local electronic structure and magnetic properties of the group-IV-based ferromagnetic semiconductor, Ge(1-x)Fex (GeFe), using soft X-ray magnetic circular dichroism. Our results show that the doped Fe 3d electrons are strongly hybridized with the Ge 4p states, and have a large orbital magnetic moment relative to the spin magnetic moment; i.e.

Pulmonary Tumor Thrombotic Microangiopathy Caused by Urothelial Carcinoma Expressing Vascular Endothelial Growth Factor, Platelet-derived Growth Factor, and Osteopontin.

Pulmonary tumor thrombotic microangiopathy (PTTM) is a fatal cancer-related pulmonary complication. It is generally caused by gastric adenocarcinoma, and several molecules produced by tumor cells are reported to play important roles in its pathogenesis. We herein report an autopsy case of PTTM caused by urothelial carcinoma.

Fine-tuning of CD8(+) T-cell effector functions by targeting the 2B4-CD48 interaction.

Polyfunctionality and cytotoxic activity dictate CD8(+) T-cell efficacy in the eradication of infected and malignant cells. The induction of these effector functions depends on the specific interaction between the T-cell receptor (TCR) and its cognate peptide-MHC class I complex, in addition to signals provided by co-stimulatory or co-inhibitory receptors, which can further regulate these functions. Among these receptors, the role of 2B4 is contested, as it has been described as either co-stimulatory or co-inhibitory in modulating T-cell functions.

Direct Estimation of the Surface Location of Immobilized Functional Groups for Concerted Catalysis Using a Probe Molecule.

The location of active sites during concerted catalysis by a metal complex and tertiary amine on a SiO2 surface is discussed based on the interaction between the functionalized SiO2 surface and a probe molecule, p-formyl phenylboronic acid. The interactions of the probe molecule with the surface functionalities, diamine ligand, and tertiary amine, were analyzed by FT-IR and solid-state (13)C and (11)B MAS NMR. For the catalyst exhibiting high 1,4-addition activity, the diamine ligand and tertiary amine base exist in closer proximity than in the catalyst with low activity.

Immunoadsorption therapy for dilated cardiomyopathy using tryptophan column-A prospective, multicenter, randomized, within-patient and parallel-group comparative study to evaluate efficacy and safety.

Over the past few decades, several cardiac autoantibodies have been reported in sera from patients with dilated cardiomyopathy (DCM). Immunoadsorption (IA) therapy is one of the therapeutic tools to remove such autoantibodies. The objective of this study was to investigate functional effects of IA therapy using a tryptophan column in severe DCM patients.

Scedosporium prolificans Endocarditis: Case Report and Literature Review.

Scedosporium prolificans, a hyaline filamentous fungus, is widely distributed in the environment and is currently an emerging human pathogen, especially among immunocompromised patients. However, S. prolificans endocarditis is rare.

Global metabolomics reveals metabolic dysregulation in ischemic retinopathy.

Proliferative diabetic retinopathy (PDR) is the most severe form of diabetic retinopathy and, along with diabetic macular edema, is responsible for the majority of blindness in adults below the age of 65. Therapeutic strategies for PDR are ineffective at curtailing disease progression in all cases; however a deeper understanding of the ocular metabolic landscape in PDR through metabolomic analysis may offer new therapeutic targets. Here, global and targeted mass spectrometry-based metabolomics were used to investigate metabolism.

Characterization of the platelet transcriptome by RNA sequencing in patients with acute myocardial infarction.

Transcripts in platelets are largely produced in precursor megakaryocytes but remain physiologically active as platelets translate RNAs and regulate protein/RNA levels. Recent studies using transcriptome sequencing (RNA-seq) characterized the platelet transcriptome in limited number of non-diseased individuals. Here, we expand upon these RNA-seq studies by completing RNA-seq in platelets from 32 patients with acute myocardial infarction (MI).

Draft Genome Sequence of Methylobacterium sp. ME121, Isolated from Soil as a Mixed Single Colony with Kaistia sp. 32K.

Methylobacterium sp. ME121 was isolated from soil as a mixed single colony with Kaistia sp. 32K, and its growth was enhanced by coculture.

A pathologically proven case of adult-onset HIV-related lymphocytic interstitial pneumonia with acute exacerbation treated with steroid and antiretroviral therapy.

Lymphocytic interstitial pneumonia (LIP) is a rare opportunistic illness in human immunodeficiency virus (HIV)-infected adults, although it is relatively common among HIV-infected children. Most adult cases have been reported in African and Afro-Caribbean patients and few cases have been reported from Asia. Acute exacerbation of HIV-related LIP has not been well described.

MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice.

Mutations in mitochondrial DNA (mtDNA) can lead to a wide range of human diseases. We have developed a deep sequencing strategy, mitoRCA-seq, to detect low-frequency mtDNA point mutations starting with as little as 1 ng of total DNA. It employs rolling circle amplification, which enriches the full-length circular mtDNA by either custom mtDNA-specific primers or a commercial kit, and minimizes the contamination of nuclear encoded mitochondrial DNA (Numts).

Finding of thiosulfate pathway for synthesis of organic sulfur compounds in Saccharomyces cerevisiae and improvement of ethanol production.

We found that Saccharomyces cerevisiae utilizes thiosulfate as a sole sulfur source. The energetically-favored thiosulfate rather than sulfate as sulfur sources is also more effective for improving growth and ethanol-production rate in S. cerevisiae due to high levels of intracellular NADPH during thiosulfate utilization.

Absence of Jahn-Teller transition in the hexagonal Ba3CuSb2O9 single crystal.

With decreasing temperature, liquids generally freeze into a solid state, losing entropy in the process. However, exceptions to this trend exist, such as quantum liquids, which may remain unfrozen down to absolute zero owing to strong quantum entanglement effects that stabilize a disordered state with zero entropy. Examples of such liquids include Bose-Einstein condensation of cold atoms, superconductivity, quantum Hall state of electron systems, and quantum spin liquid state in the frustrated magnets.

Oncogenic Lmo3 cooperates with Hen2 to induce hydrocephalus in mice.

We previously reported that LMO3 and HEN2 act as oncogenes in neuroblastoma development through up-regulating MASH1 transcription by interfering with HES1. To confirm these results in vivo, we generated transgenic mice of these genes. Lmo3 or Hen2 was expressed under the control of Wnt1 promoter, which is expressed in the central nervous system and neural crest of the sympathoadrenal lineage from which neuroblastoma develops.

Differential changes in luteinizing hormone secretion after administration of the investigational metastin/kisspeptin analog TAK-683 in goats.

This study aimed to evaluate the hormonal and ovarian responses to the administration of a metastin/kisspeptin analog (TAK-683) under the endocrine environments of luteal and follicular phases in goats. Five estrous cycling goats received a prostaglandin F2α injection followed by 10 days of progesterone treatment by CIDR. The TAK-683 (35nmol) was intravenously administered (Hour 0) on 3 days after CIDR insertion (luteal phase condition; LC) and at 12h after CIDR removal (follicular phase condition; FC).

[A case of primary testicular diffuse large B-cell lymphoma with a p53 gene point mutation].

A 52-year-old man with bilateral swelling in the scrotum was referred to the department of urology in our hospital in January 2013. Pathological examination of the scrotum revealed diffuse large B-cell lymphoma(DLBCL). Immunohistochemical staining revealed p53 overexpression, and polymerase chain reaction-single strand conformation polymorphism(PCRSSCP) revealed a point mutation in exon 7 of the p53 gene.

Soft X-ray angle-resolved photoemission with micro-positioning techniques for metallic V₂O₃.

Soft X-ray angle-resolved photoemission has been performed for metallic V2O3. By combining a microfocus beam (40 µm × 65 µm) and micro-positioning techniques with a long-working-distance microscope, it has been possible to observe band dispersions from tiny cleavage surfaces with a typical size of several tens of µm. The photoemission spectra show a clear position dependence, reflecting the morphology of the cleaved sample surface.