Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs.

Takenouchi-Kosaki Syndrome (TKS) is a congenital multi-organ disorder caused by the de novo missense mutation c.191A > G p. Tyr64Cys (Y64C) in the CDC42 gene.

Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.

Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anomalies.

The use of endoillumination probe-assisted Descemet membrane endothelial keratoplasty for bullous keratopathy secondary to argon laser iridotomy.

Purpose: To report the first case of Descemet membrane endothelial keratoplasty (DMEK) for bullous keratopathy (BK) secondary to argon laser iridotomy (ALI).

Patient: A 71-year-old woman presented with decreased visual acuity in her right eye due to BK secondary to ALI that was performed 10 years prior.

Results: Phacosurgery was performed first, followed by successful DMEK 4 months later.

Evaluation of internationally shipped prestripped donor tissue for descemet membrane endothelial keratoplasty by vital dye staining.

Purpose: The aim of this study was to evaluate endothelial cell damage of internationally shipped prestripped donor tissue for Descemet membrane endothelial keratoplasty (DMEK) using vital dye staining.

Methods: Six internationally shipped prestripped DMEK donors were stained with trypan blue and were subsequently photographed before they were cut with a trephine. Quantitative analysis assessment of endothelial damage of the donor graft area (8.

Surgical therapies for corneal perforations: 10 years of cases in a tertiary referral hospital.

Purpose: To report surgical therapies for corneal perforations in a tertiary referral hospital.

Methods: Thirty-one eyes of 31 patients (aged 62.4±18.

In vivo imaging of coin-shaped lesions in cytomegalovirus corneal endotheliitis by anterior segment optical coherence tomography.

Purpose: The aim of this study was to investigate in vivo corneal changes of coin-shaped lesions in cytomegalovirus corneal endotheliitis using anterior segment optical coherence tomography (AS-OCT).

Methods: Two eyes of 2 patients (69- and 71-year-old men), with polymerase chain reaction-proven CMV corneal endotheliitis presenting coin-shaped lesions, were included in this study. AS-OCT examination was performed on the initial visit and at follow-up visits by paying special attention to the coin-shaped lesions.

Endothelial keratoplasty with infant donor tissue.

Here we report a case of endothelial keratoplasty with infant donor tissue obtained after brain death. A 52-year-old man with endothelial dysfunction of unknown cause in the right eye underwent non-Descemet stripping automated endothelial keratoplasty (nDSAEK) with tissue from an infant donor (2 years). Intraoperative and postoperative complications were recorded.

In vivo imaging of radial keratoneuritis in patients with Acanthamoeba keratitis by anterior-segment optical coherence tomography.

Purpose: To investigate in vivo corneal changes of radial keratoneuritis in early-stage Acanthamoeba keratitis (AK) using anterior-segment optical coherence tomography (AS-OCT).

Design: Single-center, prospective clinical study.

Participants: Four eyes (4 patients with a mean age of 28.

In vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta.

Objective: To report the in vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta (OI) with special attention to the abnormality of Bowman's layer and sub-Bowman's fibrous structures (K-structures).

Patients And Methods: Two patients (67-year-old male and his 26-year-old son) with OI type I were included in this study. Slit lamp biomicroscopic and in vivo laser confocal microscopic examinations were performed for both patients.

Transglutaminase 2-dependent deamidation of glyceraldehyde-3-phosphate dehydrogenase promotes trophoblastic cell fusion.

Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is a multifunctional protein as well as a classic glycolytic enzyme, and its pleiotropic functions are achieved by various post-translational modifications and the resulting translocations to intracellular compartments. In the present study, GAPDH in the plasma membrane of BeWo choriocarcinoma cells displayed a striking acidic shift in two-dimensional electrophoresis after cell-cell fusion induction by forskolin. This post-translational modification was deamidation of multiple glutaminyl residues, as determined by molecular mass measurement and tandem mass spectrometry of acidic GAPDH isoforms.

Descemet's stripping and non-Descemet's stripping automated endothelial keratoplasty for microcornea using 6.0 mm donor grafts.

Background: The purpose of this paper is to report our experience of Descemet's stripping and non-Descemet's stripping automated endothelial keratoplasty (DSAEK/nDSAEK) for microcorneas using 6.0 mm donor grafts.

Methods: Three eyes of two patients (a 56-year-old woman and a 59-year-old woman) with microcornea and suffering from bullous keratopathy were treated with either DSAEK or nDSAEK.

In vivo laser confocal microscopy findings of radial keratoneuritis in patients with early stage Acanthamoeba keratitis.

Objective: To investigate in vivo corneal changes of keratoneuritis in early stage Acanthamoeba keratitis (AK) using in vivo laser confocal microscopy.

Design: Single-center, prospective, clinical study.

Participants: Thirteen eyes (12 patients; 5 men and 7 women; mean age ± standard deviation, 22.

Clinical features of single and repeated globe rupture after penetrating keratoplasty.

Background: In this paper, we report our experience of the clinical features of single and repeated globe rupture after penetrating keratoplasty.

Methods: We undertook a retrospective analysis of single and repeated globe ruptures following keratoplasty in eight eyes from seven consecutive patients referred to Kanazawa University Hospital over a 10-year period from January 2002 to March 2012. We analyzed their ophthalmic and demographic data, including age at time of globe rupture, incidence, time interval between keratoplasty and globe rupture, cause of rupture, complicated ocular damage, and visual outcome after surgical repair.

In vivo laser confocal microscopy after Descemet's membrane endothelial keratoplasty.

Objective: To investigate the in vivo corneal changes in patients with bullous keratopathy who underwent Descemet's membrane endothelial keratoplasty (DMEK) with the use of in vivo laser confocal microscopy.

Design: Single-center, retrospective clinical study.

Participants: Five eyes of 4 patients (3 men, 1 women; mean age, 61.

Rock-dependent calponin 3 phosphorylation regulates myoblast fusion.

Myogenesis occurs during embryonic development as well as regeneration following postnatal muscle fiber damage. Herein, we show that acidic calponin or calponin 3 (CNN3) regulates both myoblast cell fusion and muscle-specific gene expressions. Overexpression of CNN3 impaired C2C12 cell fusion, whereas CNN3 gene knockdown promoted skeletal myosin expression and fusion.

Identification of cytomegalovirus and human herpesvirus-6 DNA in a patient with corneal endotheliitis.

Purpose: To report the case of a patient with unilateral corneal endotheliitis in which both cytomegalovirus (CMV) and human herpesvirus-6 (HHV6) DNA was identified in the aqueous humor.

Case: A 67-year-old man with corneal endotheliitis OD was referred to us for decreased visual acuity. Local corneal stromal edema, pigmented keratic precipitates, a coin-shaped lesion and minimal anterior chamber reaction were observed by slit-lamp biomicroscopy.

Ex vivo laser confocal microscopy findings of cultured Acanthamoeba trophozoites.

Purpose: The purpose of the current study was to investigate ex vivo laser confocal microscopic findings of cultured Acanthamoeba trophozoites obtained from Acanthamoeba keratitis patients.

Methods: Eight cultured samples of Acanthamoeba trophozoites from eight eyes of seven patients (mean age, 26.9 years; age range, 18-52 years) were used.

Bowman's layer encystment in cases of persistent Acanthamoeba keratitis.

Background: The purpose of this study was to report Acanthamoeba encystment in Bowman's layer in Japanese cases of persistent Acanthamoeba keratitis (AK).

Methods: Laser confocal microscopic images of the cornea were obtained in vivo from 18 consecutive eyes from 17 confirmed AK patients. Retrospectively, 14 cases treated over 4 months were categorized as a nonpersistent group and three cases that required prolonged therapy for more than 6 months were categorized as a persistent group.

Rationale for performing penetrating keratoplasty rather than DSAEK in patients with bullous keratopathy in Japan.

Background And Objective: To analyze the rationale for performing penetrating keratoplasty (PK) rather than Descemet's stripping automated endothelial keratoplasty (DSAEK) in patients with bullous keratopathy (BK) in Japan.

Patients And Methods: A total of 136 eyes of 130 patients with consecutive BK were enrolled. Patients treated by DSAEK were categorized as the DSAEK group.

Calponin 3 regulates actin cytoskeleton rearrangement in trophoblastic cell fusion.

Cell-cell fusion is an intriguing differentiation process, essential for placental development and maturation. A proteomic approach identified a cytoplasmic protein, calponin 3 (CNN3), related to the fusion of BeWo choriocarcinoma cells. CNN3 was expressed in cytotrophoblasts in human placenta.

Facile synthesis of aryl ether dendrimer from unprotected AB2 building blocks using thionyl chloride as an activating agent.

[structure: see text] A novel, rapid, inexpensive, and highly efficient convergent approach for the synthesis of a Fréchet- type aryl ether dendrimer using thionyl chloride has been developed. In this method, the purification of each dendron and a dendrimer occurs by recrystallization, extraction, and precipitation. The MALDI-TOF MS spectrum supported the formation of the G2, G3, and G4 dendrons and the star-shaped G4 dendrimer.