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Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
Hitomi Yatsuki,Ken Higashimoto,Kosuke Jozaki,Kayoko Koide,Junichiro Okada,Yoriko Watanabe,Nobuhiko Okamoto,Yoshinobu Tsuno,Yoko Yoshida,Kazutoshi Ueda,Kenji Shimizu,Hirofumi Ohashi,Tsunehiro Mukai,Hid 한국유전학회 2013 Genes & Genomics Vol.35 No.2
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor features. BWS is caused by several genetic/epigenetic alterations, such as loss of methylation at KvDMR1,gain of methylation at H19-DMR, paternal uniparental disomy of chromosome 11, CDKN1C mutations, and structural abnormalities of chromosome 11. CDKN1C is an imprinted gene with maternal preferential expression, encoding for a cyclin-dependent kinase (CDK) inhibitor. Mutations in CDKN1C are found in 40 % of familial BWS cases with dominant maternal transmission and in *5 % of sporadic cases. In this study, we searched for CDKN1C mutations in 37BWS cases that had no evidence for other alterations. We found five mutations—four novel and one known—from a total of six patients. Four were maternally inherited and one was a de novo mutation. Two frame-shift mutations and one nonsense mutation abolished the QT domain, containing a PCNA-binding domain and a nuclear localization signal. Two missense mutations occurred in the CDK inhibitory domain,diminishing its inhibitory function. The above-mentioned mutations were predicted by in silico analysis to lead to loss of function; therefore, we strongly suspect that such anomalies are causative in the etiology of BWS.
Koizumi Hiroyuki,Yamamoto Daisuke,Handa Hajime,Saruta Wakiko,Shimizu Satoru,Hide Takuichiro,Kumabe Toshihiro 대한성형외과학회 2023 Archives of Plastic Surgery Vol.50 No.3
Metal fixation systems for cranial bone flaps cut by a drill are convenient devices for cranioplasty, but cause several complications. We use modified craniotomy using a fine diamond-coated threadwire saw (diamond T-saw) to reduce the bone defect, and osteoplasty calcium phosphate cement without metal fixation. We report our outcomes and tips of this method. A total of 78 consecutive patients underwent elective frontotemporal craniotomy for clipping of unruptured intracranial aneurysms between 2015 and 2019. The follow-up periods ranged from 13 to 66 months. The bone fixation state was evaluated by bone computed tomography (CT) and three-dimensional CT (3D-CT). The diamond T-saw could minimize the bone defect. Only one wound infection occurred within 1 week postoperatively, and no late infection. No pain, palpable/cosmetically noticeable displacement of the bone flap, fluid accumulations, or other complications were observed. The condition of bone fixation and the cosmetic efficacy were thoroughly satisfactory for all patients, and bone CT and 3D-CT demonstrated that good bone fusion. No complication typical of metal fixation occurred. Our method is technically easy and safety, and achieved good mid-term bone flap fixation in the mid-term course, so has potential for bone fixation without the use of metal plates.
BETTI NUMBERS OF GAUSSIAN FIELDS
Park, Changbom,Pranav, Pratyush,Chingangbam, Pravabati,Van De Weygaert, Rien,Jones, Bernard,Vegter, Gert,Kim, Inkang,Hidding, Johan,Hellwing, Wojciech A. The Korean Astronomical Society 2013 Journal of The Korean Astronomical Society Vol.46 No.3
We present the relation between the genus in cosmology and the Betti numbers for excursion sets of three- and two-dimensional smooth Gaussian random fields, and numerically investigate the Betti numbers as a function of threshold level. Betti numbers are topological invariants of figures that can be used to distinguish topological spaces. In the case of the excursion sets of a three-dimensional field there are three possibly non-zero Betti numbers; ${\beta}_0$ is the number of connected regions, ${\beta}_1$ is the number of circular holes (i.e., complement of solid tori), and ${\beta}_2$ is the number of three-dimensional voids (i.e., complement of three-dimensional excursion regions). Their sum with alternating signs is the genus of the surface of excursion regions. It is found that each Betti number has a dominant contribution to the genus in a specific threshold range. ${\beta}_0$ dominates the high-threshold part of the genus curve measuring the abundance of high density regions (clusters). ${\beta}_1$ dominates the genus near the median thresholds which measures the topology of negatively curved iso-density surfaces, and ${\beta}_2$ corresponds to the low-threshold part measuring the void abundance. We average the Betti number curves (the Betti numbers as a function of the threshold level) over many realizations of Gaussian fields and find that both the amplitude and shape of the Betti number curves depend on the slope of the power spectrum n in such a way that their shape becomes broader and their amplitude drops less steeply than the genus as n decreases. This behaviour contrasts with the fact that the shape of the genus curve is fixed for all Gaussian fields regardless of the power spectrum. Even though the Gaussian Betti number curves should be calculated for each given power spectrum, we propose to use the Betti numbers for better specification of the topology of large scale structures in the universe.
Charlie R. Adams,Christopher P. Porter,Thomas J. Robshaw,James P. Bezzina,Victoria R. Shields,Alan Hides,Richard Bruce,Mark D. Ogden 한국공업화학회 2020 Journal of Industrial and Engineering Chemistry Vol.92 No.-
This study reports the development of a hydrometallurgical treatment for activated carbon ash (ACA); awaste product of the carbon-in-pulp (CIP) process used in the gold mining industry, rich in adsorbedprecious metals. After an initial screening of known leaching chemistries, the research focusses on duallixiviant(thiourea and thiocyanate) and thiourea systems, both of which have lower environmentalimpact than traditional cyanide leaches. Comparing ferric sulfate and hydrogen peroxide as oxidantsshowed that a thiourea leach is more suited to ferric sulfate whereas the dual-lixiviant leach achievedgreater extraction with hydrogen peroxide. This was believed to be due to a more favourable effective[thiourea]:[thiocyanate] molar ratio in solution. The latter demonstrated faster kinetics and improvedefficiency for dissolution of gold and silver. However, both leaches had issues with silver extraction due toformation of passivating layers on the surface of the silver nanoparticles. Kinetic modelling showed bothsystems tended towards a mixed-controlled process. Gold extraction of 89%, with leaching reachingequilibrium within 100 min, using the dual-lixiviant process demonstrated that there is an alternative tocyanide leaches employed in gold recovery.