2,599 research outputs found
PRRT2 mutation in Japanese children with benign infantile epilepsy
No full textAbstract not availableAkihisa Okumura, Keiko Shimojima, Tetsuo Kubota, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tohru Okanishi, Hideo Enoki, Tatsuya Fukasawa, Takuya Tanabe, Leanne M. Dibbens, Toshiaki Shimizu, Toshiyuki Yamamot
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
No full textAbstractLissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. Patients with heterozygous deletion of this chromosomal region exhibit lissencephaly. Recently, we encountered a male patient who showed typical lissencephaly. Using a microarray analysis, we identified a 1.3Mb submicroscopic deletion in 17p13.3. This deletion included PAFAH1B. Both of the parents showed no deletion in this region. Therefore, this was determined to be derived from de novo origin. After obtaining the written informed consent, skin fibroblasts were provided from this patient and disease-specific induced pluripotent stem (iPS) cells were generated and used for medical research (Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, and Yamamoto T. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics, in press)
What is a logical diagram?
No full textRobert Brandom’s expressivism argues that not all semantic content may be made fully explicit. This view connects in interesting ways with recent movements in philosophy of mathematics and logic (e.g. Brown, Shin, Giaquinto) to take diagrams seriously - as more than a mere “heuristic aid” to proof, but either proofs themselves, or irreducible components of such. However what exactly is a diagram in logic? Does this constitute a semiotic natural kind? The paper will argue that such a natural kind does exist in Charles Peirce’s conception of iconic signs, but that fully understood, logical diagrams involve a structured array of normative reasoning practices, as well as just a “picture on a page”
Statistical Mechanics of Quantum Mixtures III : Surface Tension of the liquid ^3He-^4He system
No full textWe develope a theory of the surface tension for the liquid ^3He-^4He system basing on the cluster expansion scheme modified for the quantum system which the present author has proposed previously with K. Shimojima. We derive a general formula of the surface tension for the quantum mixtures and apply it to the dilute solution of ^4He in liquid ^3He.3KJ00001511918論文Articledepartmental bulletin pape
Evolution of replication efficiency following infection with a molecularly cloned feline immunodeficiency virus of low virulence
No full textThe development of an effective vaccine against human immunodeficiency virus is considered to be the most practicable means of controlling the advancing global AIDS epidemic. Studies with the domestic cat have demonstrated that vaccinal immunity to infection can be induced against feline immunodeficiency virus (FIV); however, protection is largely restricted to laboratory strains of FIV and does not extend to primary strains of the virus. We compared the pathogenicity of two prototypic vaccine challenge strains of FIV derived from molecular clones; the laboratory strain PET<sub>F14</sub> and the primary strain GL8<sub>414</sub>. PET<sub>F14</sub> established a low viral load and had no effect on CD4<sup>+</sup>- or CD8<sup>+</sup>- lymphocyte subsets. In contrast, GL8<sub>414</sub> established a high viral load and induced a significant reduction in the ratio of CD4<sup>+</sup> to CD8<sup>+</sup> lymphocytes by 15 weeks postinfection, suggesting that PET<sub>F14</sub> may be a low-virulence-challenge virus. However, during long-term monitoring of the PET<sub>F14</sub>-infected cats, we observed the emergence of variant viruses in two of three cats. Concomitant with the appearance of the variant viruses, designated 627<sub>W135</sub> and 628<sub>W135</sub>, we observed an expansion of CD8<sup>+</sup>-lymphocyte subpopulations expressing reduced CD8 ß-chain, a phenotype consistent with activation. The variant viruses both carried mutations that reduced the net charge of the V3 loop (K409Q and K409E), giving rise to a reduced ability of the Env proteins to both induce fusion and to establish productive infection in CXCR4-expressing cells. Further, following subsequent challenge of naïve cats with the mutant viruses, the viruses established higher viral loads and induced more marked alterations in CD8<sup>+</sup>-lymphocyte subpopulations than did the parent F14 strain of virus, suggesting that the E409K mutation in the PET<sub>F14</sub> strain contributes to the attenuation of the virus
Free Rides in Logical Space Diagrams Versus Aristotelian Diagrams
No full textsponsorship: The first author acknowledges the financial support from the Research Foundation - Flanders (FWO) of his research stay at Doshisha University with the second author. The third author holds a Postdoctoral Fellowship of the Research Foundation -Flanders (FWO) and a Research Professorship (BOFZAP) from KU Leuven. (Research Foundation - Flanders (FWO), KU Leuven)status: Publishe
Combination Treatment with Cryolipolysis and Hyaluronic Acid Fillers for Jawline Enhancement
No full textKumiko Shimojima,1 Mayuko Hashimoto,1 Yuhi Yamaoka,1 Krishan Mohan Kapoor2 1Kumiko Clinic, Tokyo, Japan; 2Anticlock Clinic, Chandigarh, IndiaCorrespondence: Krishan Mohan Kapoor, Department of Plastic Surgery, Anticlock Clinic, #1508, Sector 33-D, Chandigarh, 160022, India, Tel +91-9876600600, Email [email protected]: Facial contouring procedures are increasingly sought to address aesthetic concerns such as submental fat accumulation and lack of jawline definition. Cryolipolysis and hyaluronic acid (HA) injection have emerged as promising modalities for lower face contouring, targeting fat reduction and jawline enhancement, respectively.Objective: This study aims to assess the efficacy and safety of a combined treatment approach involving cryolipolysis followed by HA injection for addressing lower face contour concerns. Specifically, the study seeks to evaluate outcomes associated with this comprehensive treatment modality in the lower face region.Methods: A retrospective analysis was conducted on four females and one male who underwent cryolipolysis treatment for double chin reduction, followed by HA injection for jawline contouring. Pre- and post-treatment assessments, including digital photographs and standardized measurements, were performed to evaluate changes in lower face contouring. Objective evaluation of treatment outcomes was facilitated using digital photographs and standardized measurements, including 3-D images captured using the VECTRA system. Post-treatment assessments were conducted at 4-week intervals to monitor progress, with participant satisfaction assessed using the Global Aesthetic Improvement Scale (GAIS) at the end of six months after filler treatment.Results: Findings from this pilot study demonstrate significant improvement in lower face contouring resulting from the combined treatment of cryolipolysis and HA injection. Post-treatment improvements included reduced submental fullness, enhanced definition in the jawline and improved chin projection. The cervicomental angle, measured using VECTRA, demonstrated a reduction post-treatment in all subjects. After Cryolipolysis only, the mean change in cervicomental angle was − 4.94°, with a p-value of 0.0635. After both cryolipolysis and fillers, the mean change in cervicomental angle was − 9.34°, and the p-value was 0.0244, indicating a statistically significant reduction. Subjective reports from participants, using GAIS, indicated high satisfaction with treatment outcomes.Conclusion: These results indicate that while cryolipolysis alone shows a trend toward improvement, the addition of hyaluronic acid fillers provides a statistically significant enhancement in cervicomental angle and overall lower face contouring. Hence, integrating cryolipolysis and HA injections offers a comprehensive solution for addressing lower face contour concerns, providing synergistic benefits for both modalities.Keywords: fillers, cryolipolysis, jawline fillers, chin fillers, hyaluronic aci
Measurement of the mass difference m(D-s(+))-m(D+) at CDF II
No full textWe present a measurement of the mass difference m(D-s(+))-m(D+), where both the D-s(+) and D+ are reconstructed in the phipi(+) decay channel. This measurement uses 11.6 pb(-1) of data collected by CDF II using the new displaced-track trigger. The mass difference is found to be m(D-s(+))-m(D+)=99.41+/-0.38(stat)+/-0.21(syst) MeV/c(2)
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
No full textBackground: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. Methods: The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. Three of our patients were ascertained from the first 1133 children to have been investigated through this large-scale study. Case 4 was a phenotypically isolated case recruited into an undiagnosed rare disorders sequencing study. Results: Protein-altering de novo mutations in PURA were identified in four subjects. They include two different frameshifts, one inframe deletion and one missense mutation. PURA encodes Pur-?, a highly conserved multifunctional protein that has an important role in normal postnatal brain development in animal models. The associated human phenotype of de novo heterozygous mutations in this gene is variable, but moderate to severe neurodevelopmental delay and learning disability are common to all. Neonatal hypotonia, early feeding difficulties and seizures, or ‘seizure-like’ movements, were also common. Additionally, it is suspected that anterior pituitary dysregulation may be within the spectrum of this disorder. Psychomotor developmental outcomes appear variable between patients, and we propose a possible genotype–phenotype correlation, with disruption of Pur repeat III resulting in a more severe phenotype.Conclusions: These findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans, and help clarify the role of PURA in the previously described 5q31.3 microdeletion phenotype
Health-Care Providers' Preparedness for H1N1/09 Influenza Prevention and Treatment in Dar es Salaam, Tanzania.
No full text\ud
In Tanzania, the first case of H1N1/09 influenza was reported in September 2009. By March 2010, the reported number of cases was 770 with one death. Due to shortage of qualified human resources, essential medicines and laboratory supplies in health facilities, it was not known how well health-care providers in the country were prepared to deal with the pandemic. The study was conducted from December 2009 to May 2010 in public hospitals and private community pharmacies in Dar es Salaam, Tanzania. Fifty-three prescribers and 200 dispensers were interviewed to assess their knowledge on the prevention and treatment of H1N1/09 influenza, and dissemination of correct information to the public regarding the pandemic. Most participants had inadequate knowledge on the transmission, prevention and management of H1N1/09 influenza. The majority of prescribers knew neither the antiviral drugs recommended for the treatment of H1N1 influenza (64%) nor their adverse effects (92.5%). The drug dispensers' knowledge was also inadequate regarding the transmission, prevention and treatment of H1N1/09 influenza. Forty-one (20.5%) salespersons without formal training in pharmaceutical or medical sciences were found dispensing and supervising the pharmacies. Most participants had misconceptions on how H1N1/09 virus was transmitted. The results of the study revealed gaps in the knowledge of the health-care providers on the prevention and treatment of H1N1/09 influenza infection. This indicates the need for strengthening of health-care systems and provision of continuing education and professional development for health-care providers on new and re-emerging diseases in the community.\u
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