Laparoendoscopic single-site concomitant surgery for gallstones and a giant ovarian teratoma.

Laparoendoscopic single-site (LESS) technique has gained popularity in several fields of surgery. Our patient had multiple gallstones and a left ovarian mature cystic teratoma 12 cm in diameter. She underwent concomitant laparoscopic cholecystectomy and adnectomy using LESS technique.

A practical method to detect SNVs and indels from whole genome and exome sequencing data.

The recent development of massively parallel sequencing technology has allowed the creation of comprehensive catalogs of genetic variation. However, due to the relatively high sequencing error rate for short read sequence data, sophisticated analysis methods are required to obtain high-quality variant calls. Here, we developed a probabilistic multinomial method for the detection of single nucleotide variants (SNVs) as well as short insertions and deletions (indels) in whole genome sequencing (WGS) and whole exome sequencing (WES) data for single sample calling.

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.

All TGF-beta family members have a prodomain that is important for secretion. Lack of secretion of a TGF-beta family member GDF5 is known to underlie some skeletal abnormalities, such as brachydactyly type C that is characterized by a huge and unexplained phenotypic variability. To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T>C; p.

Deterioration of glaucoma after carotid endarterectomy.

A 64-year-old man with a long history of untreated diabetes mellitus had suffered from visual disturbance in his right eye. Neovascular glaucoma in the right eye and diabetic retinopathy in both eyes were found, and ischemic ocular syndrome was suspected for the right eye. Neuroimaging revealed severe stenosis of the right internal carotid artery.

Integrated molecular analysis of clear-cell renal cell carcinoma.

Clear-cell renal cell carcinoma (ccRCC) is the most prevalent kidney cancer and its molecular pathogenesis is incompletely understood. Here we report an integrated molecular study of ccRCC in which ≥100 ccRCC cases were fully analyzed by whole-genome and/or whole-exome and RNA sequencing as well as by array-based gene expression, copy number and/or methylation analyses. We identified a full spectrum of genetic lesions and analyzed gene expression and DNA methylation signatures and determined their impact on tumor behavior.

Obesity and gastrointestinal diseases.

The prevalence of obesity in the Japanese population has been increasing dramatically in step with the Westernization of lifestyles and food ways. Our study demonstrated significant associations between obesity and a number of gastrointestinal disorders in a large sample population in Japan. We demonstrated that reflux esophagitis and hiatal hernia were strongly related to obesity (BMI > 25) in the Japanese.

Dense array EEG source estimation in neocortical epilepsy.

Rationale: Dense array EEG (dEEG) evenly covers the whole head surface with over 100 channels contributing to more accurate electrical source imaging due to the higher spatial and temporal resolution. Several studies have shown the clinical utility of dEEG in presurgical clinical evaluation of epilepsy. However validation studies measuring the accuracy of dEEG source imaging are still needed.

Total intravenous anesthesia affecting spike sources of magnetoencephalography in pediatric epilepsy patients: focal seizures vs. non-focal seizures.

Purpose: Magnetoencephalography (MEG) provides source localization of interictal spikes. This study evaluated the inhibitory effects of propofol on MEG spike sources (MEGSSs) among different types of seizures in patients who underwent two separate MEG studies with and without total intravenous anesthesia (TIVA) using propofol.

Methods: We studied 19 children (1-14 years; mean, 6.

Visible-light-induced oxygenation of benzene by the triplet excited state of 2,3-dichloro-5,6-dicyano-p-benzoquinone.

Photocatalytic oxygenation of benzene to phenol occurs under visible-light irradiation of 2,3-dichloro-5,6-dicyano-p-benzoquinone (DDQ) in an oxygen-saturated acetonitrile solution of benzene and tert-butyl nitrite. The photocatalytic reaction is initiated by photoinduced electron transfer from benzene to the triplet excited state of DDQ.

Identification of cell surface antigen expression in canine hepatocellular carcinoma cell lines.

The characteristics of surface antigens in canine hepatocellular carcinoma (cHCC) have not been clarified. The objective of this study was to investigate surface antigens, which are considered as stem/progenitor or cancer cell markers, in cHCC cell lines. Expression of various antigens including CD29, CD34, CD44, CD90, CD133 and Dlk-1 was assessed in four cHCC cell lines by flow cytometry.

Accumulation of xenotransplanted canine bone marrow cells in NOD/SCID/γc(null) mice with acute hepatitis induced by CCl4.

Bone marrow cell infusion (BMI) has recently been suggested as an effective therapy for refractory liver disease; however, the efficiency of BMI using canine bone marrow cells (cBMCs) has not been reported. We evaluated the accumulation potential of cBMCs in a mouse model of acute liver failure. Acute hepatitis was induced by carbon tetrachloride (CCl4) treatment in NOD/SCID/γc(null)(NOG) mice and wild-type (WT) C57BL mice, and the characteristics of liver dysfunction and the degree of hepatic injury and regeneration were compared between the two mouse models.

Chemical evidence for the synergistic effect of a cysteinyl thiol on the antioxidant activity of caffeic and dihydrocaffeic esters.

Antioxidant activity of methyl caffeate and methyl dihydrocaffeate in the presence of a cysteinyl thiol was measured in an azo-initiator-induced lipid oxidation system. The coexistence of the thiol was observed to display a synergistic effect on the antioxidant activity of both caffeates. The synergism was observed mainly with respect to the elongation of the induction period, rather than the inhibition rate for lipid oxidation.

Concealing surface topography by attachment of nanometer-thick film.

Concealing of surface topology of substrates by decal-like attachment of nanomembrane is demonstrated. The nanomembrane attachment provides a flat surface on various substrates, including porous substrates, and the surface property such as wettability was changed to that of the nanomembrane. The monitoring of drying process revealed that a nanomembrane with certain thickness tolerates their flexural deflection during the procedure.

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. Mutations in the type II hair keratin gene KRT85 and the HOXC13 gene on chromosome 12q have recently been identified in families with autosomal-recessive PHNED. In the present study, we have analyzed a consanguineous Syrian family with an affected girl having complete alopecia and nail dystrophy since birth.

The influence of infertility treatment on the prognosis of endometrial cancer and atypical complex endometrial hyperplasia.

Introduction: Many patients with endometrial cancer have no children when diagnosed, and thus are reluctant to undergo hysterectomy, hoping to preserve their fertility. Their requirement is met, at least partially, with high-dose medroxyprogesterone acetate that brings good response rate in the treatment of endometrial cancer in the early stage and atypical complex endometrial hyperplasia (EC/ACEH). Actually, a number of successful pregnancies after the conservative treatment have been reported.

High interaction variability of the bivalve-killing dinoflagellate Heterocapsa circularisquama strains and their single-stranded RNA virus HcRNAV isolates.

HcRNAV is a single-stranded RNA (ssRNA) virus that specifically infects the bivalve-killing dinoflagellate, Heterocapsa circularisquama. HcRNAV strains are grouped into 2 types (UA and CY), based on intra-species host specificity and the amino acid sequence of the major capsid protein (MCP). In the present study, we report the isolation of novel HcRNAV clones (n=51) lytic to the H.

Modulation of activity and inhibitor sensitivity of rabbit aldose reductase-like protein (AKR1B19) by oxidized glutathione and SH-reagents.

Rabbit aldo-keto reductase (AKR) 1B19 is an ortholog of human aldose reductase-like protein (ARLP), AKR1B10, showing 86% amino acid sequence identity. AKR1B19 exhibits the highest catalytic efficiency for 4-oxo-2-nonenal, a major product of lipid peroxidation, compared to known reductases of this aldehyde. In this study, we found that the reductase activity of AKR1B19 was activated to about 5-fold immediately after the addition of 10 μM SH-reagents (p-chloromercuriphenylsulfonic acid and p-chloromercuribenzoic acid) in the absence or presence of NADPH.

Characterization of rabbit morphine 6-dehydrogenase and two NAD(+)-dependent 3α(17β)-hydroxysteroid dehydrogenases.

Mammalian morphine 6-dehydrogenase (M6DH)(1) converts morphine into a reactive electrophile, morphinone. M6DH belongs to the aldo-keto reductase (AKR) superfamily, but its endogenous substrates and entire amino acid sequence remain unknown. A recent rabbit genomic sequencing predicts three genes for novel AKRs (1C26, 1C27 and 1C28) that share >87% amino acid sequence identity and are similar to the partial sequence of rabbit liver M6DH.

GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.

Background: Clouston syndrome is a rare autosomal dominant condition characterized by hypotrichosis, nail dystrophy, and occasionally palmoplantar keratoderma. The disease is caused by mutations in GJB6 gene, which encodes a gap junction protein connexin 30 (Cx30).

Objective: To disclose the molecular basis of Clouston syndrome in a Lebanese-German family, and also to determine precise expression of Cx30 in normal skin of humans and mice, as well as transcriptional regulation for the GJB6 expression.