Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation

We established three iPSC lines from postmortem-cultured fibroblasts derived following the sudden unexpected death of an 8-year-old girl with Lennox-Gastaut syndrome, who turned out to have the R551H-mutant STXBP1 gene. These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated trilineage differentiation capability, indicating their utility in disease-modeling studies, i.e., STXBP1-encephalopathy. This is the first report on the establishment of iPSCs from a sudden death child, suggesting the possible use of postmortem-iPSC technologies as an epoch-making approach for precise identification of the cause of sudden death

Gene Transfer Using Micellar Nanovectors Inhibits Choroidal Neovascularization In Vivo

PURPOSE: Age-related macular degeneration caused by choroidal neovascularization (CNV) remains difficult to be treated despite the recent advent of several treatment options. In this study, we investigated the in vivo angiogenic control by intravenous injection of polyion complex (PIC) micelle encapsulating plasmid DNA (pDNA) using a mice CNV model. METHODS: The transfection efficiency of the PIC micelle was investigated using the laser-induced CNV in eight-week-old male C57 BJ/6 mice. Firstly, each mouse received intravenous injection of micelle encapsulating pDNA of Yellow Fluorescent Protein (pYFP) on days 1,3 and 5. The expression of YFP was analyzed using fluorescein microscopy and western blotting analysis. In the next experiments, each mouse received intravenous injection of micelle encapsulating pDNA of soluble Fms-like tyrosine kinase-1 (psFlt-1) 1,3 and 5 days after the induction of CNV and the CNV lesion was analyzed by choroidal flatmounts on day 7. RESULTS: Fluorescein microscopy and western blotting analysis revealed that the expression of YFP was confirmed in the CNV area after injection of the PIC micelle, but the expression was not detected neither in mice that received naked pDNA nor those without CNV. Furthermore, the CNV area in the mice that received intravenous injection of the psFlt-1-encapsulated PIC micelle was significantly reduced by 65% compared to that in control mice (p<0.01). CONCLUSIONS: Transfection of sFlt-1 with the PIC micelle by intravenous injection to mice CNV models showed significant inhibition of CNV. The current results revealed the significant potential of nonviral gene therapy for regulation of CNV using the PIC micelle encapsulating pDNA

Seismic Exploration Using Active Sources at Kuchierabujima Volcano, Southwest Japan

Seismic exploration using artificial sources was conducted at Kuchierabujima volcano, southwest Japan in November 2004 by 40 participants from 9 national universities andJapan Meteorological Agency to investigate the subsurface seismic structure. The exploration was the 11th joint experiment under the National Project for Prediction of Volcanic Eruptions. A total of 183 temporal stations equippedwith a 2 Hz vertical component seismometer (including 75 3component seismometers) and a portable data logger were deployed on Kuchierabu Island. Dynamite shots with charges of 10-115 kg were detonated at 19 locations, and seismic signals were successfully recorded. To reveal the P-wave velocity structure, 2955 arrival times of the first motion were picked from the seismograms, and 2187 were classified into ranks A and B. From the record sections and the arrival time data, characteristics reflecting the geological structure were identified. Refracted waves of 5 km/s were observed at stations＞5km from the shot points. Apparent velocities near the shot points depend on the surface geology around the shots. P-wave arrived earlier at stations near the summits. Strongly scattered waves were observed similarly near the summits

Transileocolic Vein Obliteration for Bleeding Rectal Varices with Portal Thrombus

We report a case of rectal varices treated successfully with transileocolic vein obliteration (TIO). A 70-year-old man was admitted to our hospital for evaluation of fresh bloody stools in January 2011. Emergent colonoscopy revealed fresh blood in the rectum and tortuous rectal varices. Three-dimensional computed tomography was used as a non-invasive method for the identification of rectal varices and thrombus in the extrahepatic portal vein. Angiography demonstrated that rectal varices were supplied with backward blood flow by the inferior mesenteric vein. Transileocolic variceal obliteration was performed using coils and 5% ethanolamine oleate with iopamidol. Complete hemostasis was achieved without complications. We conclude that TIO is a safe and effective hemostatic measure for ruptured rectal varices with portal thrombus

Influence of limb alignment and prosthetic orientation on patient-reported clinical outcomes in total knee arthroplasty

Background: The relationship between postoperative limb alignment and clinical outcomes in primary total knee arthroplasty (TKA) is well reported, but the instruments used to evaluate clinical outcomes of TKA are mainly scoring systems from the physician's viewpoint, not patient-reported outcomes. The purpose of this study was to investigate retrospectively the relationship between postoperative limb alignment and patient-reported clinical outcomes using the 2011 Knee Society Knee Scoring System (2011 KSS). Methods: The present study included 155 knees of patients (median age, 74 years) who underwent primary TKA for varus osteoarthritis, with a mean follow-up period of 46 months. The subjects were divided into three groups based on postoperative limb alignment and femoral and tibial component positioning angle (varus, neutral, and valgus). The 2011 KSS scores were compared among the groups. Results: For limb alignment, the postoperative objective knee indicator score was significantly lower in the valgus group than in the varus and neutral groups, whereas no significant differences were observed in any subjective categories of the 2011 KSS. However, for the femoral component angle, functional activity scores were significantly lower in the valgus group than in the varus and neutral groups. Conclusions: The subjective patient-reported score was not affected by the postoperative limb alignment. However, the valgus femoral component angle resulted in lower subjective functional scores. For clinical relevance, postoperative valgus positioning of femoral component should be avoided from patient-reported functional aspects during TKA

Mobile Bearing Total Knee Arthroplasty for Valgus Knee Osteoarthritis with Permanent Patellar Dislocation: A Case Report and Review of the Literature

Permanent patellar dislocation with tibiofemoral joint osteoarthritis is a relatively rare condition. To treat this condition, total knee arthroplasty with proximal or distal realignment of the extensor mechanism has been reported. We report a challenging case of an 80-year-old woman diagnosed with permanent patellar dislocation with tibiofemoral joint osteoarthritis treated by a mobile bearing total knee arthroplasty utilizing navigation system. Lateral retinaculum release was performed to improve patellar tracking; other proximal or distal realignment of the extensor mechanism was not necessary. Postoperative radiographs show stable patellar tracking and recurrent patellar dislocation was not observed. This clinical case indicates that the implant’s precise alignment and rotation during total knee arthroplasty could settle anatomical abnormalities of permanent patellar dislocation and the mobile bearing insert could contribute to stabilizing patellar tracking