The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.

This is the first report for a Japanese case of arthrochalasia type of Ehlers-Danlos syndrome (EDS). A 46-year-old woman consulted us for joint hypermobility and skin hyperextensibility that had been present soon after birth. There was no family history of a similar disease.

The involvement of reactive oxygen species derived from NADPH oxidase-1 activation on the constitutive tyrosine auto-phosphorylation of RET proteins.

Reactive oxygen species (ROS) play a key role in neoplastic growth and tumor invasion is supported by various experimental data. In this study, we analyzed the participation of ROS in the RET tyrosine auto-phosphorylation. The NIH3T3 cell lines transfected with cRET, MEN2A, and MEN2B individually (designated NIH3T3cRET, NIH3T3 RET-MEN2A, and NIH3T3RET-MEN2B) showed the elevated levels of intracellular ROS, and concomitantly increased Rac1 expression, as well as down-regulation of Mn SOD and Cu/Zn SOD in comparison with the parental cell line expressing RET.

Ptosis as partial oculomotor nerve palsy due to compression by infundibular dilatation of posterior communicating artery, visualized with three-dimensional computer graphics: case report.

Oculomotor nerve palsy (ONP) due to internal carotid-posterior communicating artery (PcomA) aneurysm generally manifests as partial nerve palsy including pupillary dysfunction. In contrast, infundibular dilatation (ID) of the PcomA has no pathogenic significance, and mechanical compression of the cranial nerve is extremely rare. We describe a 60-year-old woman who presented with progressive ptosis due to mechanical compression of the oculomotor nerve by an ID of the PcomA.

Reovirus type-2-triggered autoimmune cholangitis in extrahepatic bile ducts of weanling DBA/1J mice.

Background: Reovirus is a proposed cause of infantile biliary atresia. However, mechanistic insight regarding Reo-2 as a potential cholangiotropic virus is lacking. Furthermore, it is unknown whether Reo-2 infection can induce autoimmune-mediated bile duct injury.

Five-year postoperative outcomes of apodized diffractive multifocal intraocular lens implantation.

Purpose: To assess the long-term postoperative visual performance of an apodized diffractive multifocal intraocular lens (IOL).

Methods: Twenty-one patients (42 eyes) underwent cataract surgery with bilateral implantation of an apodized diffractive multifocal IOL. The monocular uncorrected and corrected distance visual acuities, uncorrected, distance-corrected and corrected near visual acuities, and manifest refractive spherical equivalent were measured 1 and 5 years postoperatively.

Surface light scattering and visual function of diffractive multifocal hydrophobic acrylic intraocular lenses 6 years after implantation.

Purpose: To evaluate the surface light scattering associated with diffractive multifocal intraocular lenses (IOLs) and visual function 6 years after implantation.

Setting: Private practice.

Design: Retrospective comparative case series.

Utility of early post-treatment single-photon emission computed tomography imaging to predict outcome in stroke patients treated with intravenous tissue plasminogen activator.

It is important to predict the outcome of tissue plasminogen activator (tPA)-treated patients early after the treatment for considering the post-tPA treatment option. We assessed cerebral blood flow (CBF) of tPA-treated patients with single-photon emission computed tomography (SPECT) 1 hour after tPA infusion to predict the patient outcome. Technetium-99m-hexamethylpropyleneamine oxime SPECT was performed in 35 consecutive tPA-treated patients.

Pericardial synovial sarcoma: a case report and review of the literature.

Primary pericardial synovial sarcoma is a rare disease. We herein report a case of synovial sarcoma that originated in the epicardium. A 13-year-old male visited our hospital with a fever and chest pain.

Optimal setting of image bounding box can improve registration accuracy of diffusion tensor tractography.

Purpose: When we register diffusion tensor tractography (DTT) to anatomical images such as fast imaging employing steady-state acquisition (FIESTA), we register the B0 image to FIESTA. Precise registration of the DTT B0 image to FIESTA is possible with non-rigid registration compared to rigid registration, although the non-rigid methods lack convenience. We report the effect of image data bounding box settings on registration accuracy using a normalized mutual information (NMI) method METHODS: MRI scans of 10 patients were used in this study.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5).

Assessment of whether visual outcomes with diffractive multifocal intraocular lenses vary with patient age.

Purpose: To assess whether corrected visual acuity after implantation of diffractive multifocal intraocular lenses (IOLs) varies with patient age.

Setting: Tokyo Dental College, Suidobashi Hospital, Tokyo, Japan.

Design: Cross-sectional study.

Clinicopathological analysis of glomerulopathy with fibronectin deposits (GFND): a case of sporadic, elderly-onset GFND with codeposition of IgA, C1q, and fibrinogen.

A 67-year-old Japanese man with recurrent nephrotic syndrome and impaired kidney function had a sporadic, elderly-onset case of glomerulopathy with fibronectin deposits. The daily urinary protein, serum albumin, blood urea nitrogen, and creatinine levels were 3.6 g/day, 2.

Assessment of some problematic factors in facial image identification using a 2D/3D superimposition technique.

The number of criminal cases requiring facial image identification of a suspect has been increasing because a surveillance camera is installed everywhere in the city and furthermore, the intercom with the recording function is installed in the home. In this study, we aimed to analyze the usefulness of a 2D/3D facial image superimposition system for image identification when facial aging, facial expression, and twins are under consideration. As a result, the mean values of the average distances calculated from the 16 anatomical landmarks between the 3D facial images of the 50s groups and the 2D facial images of the 20s, 30s, and 40s groups were 2.

Presurgical planning of feeder resection with realistic three-dimensional virtual operation field in patient with cerebellopontine angle meningioma.

Background: To devascularize meningiomas, the precise location of tumor attachment must be known. However, when a cerebellopontine angle (CPA) meningioma is in contact with many surrounding structures, it can be difficult to distinguish the most vascularized attachment (MVA) from other contact surfaces.

Objective: To validate the usefulness of a virtual operation field (VOF) of a CPA meningioma by high-spatial-resolution three-dimensional computer graphics (hs-3DCG).

Adenocarcinoma of the minor duodenal papilla: report of a case.

We report a rare case of adenocarcinoma of the minor papilla of the duodenum treated with transduodenal minor papillectomy. A 64-year-old woman was treated for an asymptomatic duodenal tumor detected on gastroduodenoscopy. Endoscopy showed a 15-mm sessile mass in the descending duodenum proximal to the major papilla.

Discriminant functions for sex estimation of modern Japanese skulls.

The purpose of this study is to generate a set of discriminant functions in order to estimate the sex of modern Japanese skulls. To conduct the analysis, the anthropological measurement data of 113 individuals (73 males and 40 females) were collected from recent forensic anthropological test records at the National Research Institute of Police Science, Japan. Birth years of the individuals ranged from 1926 to 1979, and age at death was over 19 years for all individuals.

Development and application of a simple LC-MS method for the determination of plasma rilpivirine (TMC-278) concentrations.

Rilpivirine (TMC-278) is a second-generation non-nucleoside reverse transcriptase inhibitor that is high potent against both wild-type and drug-resistant HIV-1 strains. Therefore, rilpivirine is expected to treat therapy-experienced patients who failed to use current drugs due to the emergence of drug-resistant HIV mutants. The quantification of rilpivirine in human plasma is important to support clinical studies and determine pharmacokinetic parameters of rilpivirine in HIV-1 infected patients.

Physicochemical studies of bacteriorhodopsin reconstituted in partially fluorinated phosphatidylcholine bilayers.

A membrane protein bacteriorhodopsin (bR) that is successfully reconstituted in liposome of a novel partially fluorinated analog of dimyristoylphosphatidylcholine (DMPC) with the perfluorobutyl segments in the myristoyl groups, diF4H10-PC, has been investigated by some spectroscopic and X-ray diffraction techniques to clarify effects of substitution of nine hydrogen atoms by fluorine atoms on structural and physical properties of the membrane protein by comparison with the previous results on proteoliposome of bR and DMPC. Below the gel-to-liquid crystalline phase transition of diF4H10-PC bilayer, bR molecules adopt the two-dimensional lattice structure of trimers as the structural unit and show a photocycle very similar to that of native purple membrane like reconstituted bR in DMPC liposome in the gel phase. Even upon heating up to temperatures well above the phase transition, the nativelike functional reconstitution and higher structural stability of bR molecules in diF4H10-PC liposome are retained, which strikingly contrasts with lipid phase transition-induced disaggregation of protein molecules and light-induced denaturation in DMPC liposome.

Effects of chain length of an amphipathic polypeptide carrying the repeated amino acid sequence (LETLAKA)(n) on α-helix and fibrous assembly formation.

Polypeptide α3 (21 residues), with three repeats of a seven-amino-acid sequence (LETLAKA)(3), forms an amphipathic α-helix and a long fibrous assembly. Here, we investigated the ability of α3-series polypeptides (with 14-42 residues) of various chain lengths to form α-helices and fibrous assemblies. Polypeptide α2 (14 residues), with two same-sequence repeats, did not form an α-helix, but polypeptide α2L (15 residues; α2 with one additional leucine residue on its carboxyl terminal) did form an α-helix and fibrous assembly.

Properties and water sorption characteristics of spaghetti prepared using various dies.

Spaghetti was prepared using dies made of different materials. The surface was observed using digital and optical microscopes, and was rougher for the spaghettis prepared using the Teflon, polypropylene, polycarbonate, aluminum, and bronze dies in this order. The extrusion velocity when passing through the die was faster, the bulk density was higher, and the rupture strength was greater for the spaghetti having the smoother surface.

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage.

Citrin-deficient children and adolescents between adult-onset type II citrullinemia and neonatal intrahepatic cholestasis by citrin deficiency do not have clear clinical features except for unusual diet of high-fat, high-protein, and low-carbohydrate food. The aims of the present study are to characterize fatigue and quality of life (QOL) in citrin-deficient patients during adaptation and compensation stage, and to define the relationship between fatigue and QOL. The study subjects were 55 citrin-deficient patients aged 1-22years (29 males) and 54 guardians.

A novel GABAergic action mediated by functional coupling between GABAB-like receptor and two different high-conductance K+ channels in cricket Kenyon cells.

The γ-aminobutyric acid type B (GABA(B)) receptor has been shown to attenuate high-voltage-activated Ca(2+) currents and enhance voltage-dependent or inwardly rectifying K(+) currents in a variety of neurons. In this study, we report a novel coupling of GABA(B)-like receptor with two different high-conductance K(+) channels, Na(+)-activated K(+) (K(Na)) channel and Ca(2+)-activated K(+) (K(Ca)) channel, in Kenyon cells isolated from the mushroom body of the cricket brain. Single-channel activities of K(Na) and K(Ca) channels in response to bath applications of GABA and the GABA(B)-specific agonist SKF97541 were recorded with the cell-attached patch configuration.

Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.

The late-onset type of ornithine transcarbamylase (OTC) deficiency is almost asymptomatic before an abrupt onset of metabolic crisis in adolescence. This study focused on coagulopathy in OTC deficiency. We collected laboratory data regarding coagulation from OTC-deficient patients in Kyushu University Hospital in Japan or from cases reported from previous articles.