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Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

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Journal of Genetics and Genomics 2018年第6期45卷 333-335页

作者： Rachel Brockhage Jesse Slone Zeqian Ma Madhuri R.Hegde c.alexander Valencia Taosheng Huang Division of Human Genetics Children's Hospital Medical Center Cincinnati OH 45229 USA PerkinElmer Genomics Branford CT 06405 USA Department of Human Genetics Emory University Atlanta GA 30322 USA School of Biological Sciences Georgia Institute of Technology Atlanta CA 30332 USA West china Hospital Sichuan University Chengdu 610041 China Human Aging Research Institute Nanchang University Nanchang 330031 China

Diagnosis of mitochondrial DNA（mt DNA）disorders has traditionally been focused on the presence of point mutations and large ***,deviations in mitochondrial abundance or mt DNA copy number can also be associated with... 详细信息

关键词： WGS Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing DNA PcR

Synthesis and Single-crystal X-ray Studies of (E)-ethyl 2-fluoro-2-(3-oxoisobenzofuran-1(3H)-ylidene) Acetate

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chinese Journal of Structural chemistry 2013年第8期32卷 1139-1142页

作者： Muhammad Adeel Peter Langer alexander Villinger Department of chemistry Gomal University Dera Ismail KhanKPK Pakistan Institute of chemistry University of Rostock

The title compound （E）-ethyl 2-fluoro-2-（3-oxoisobenzofuran-1（3H）-ylidene） aceta- te was synthesized as an unexpected product by the reaction ofphthalyl dichloride with bis-silylenol ether, which is not in accordance with our previous studies. The title compound was characterized by single-crystal X-ray diffraction, 1H NMR, 13c NMR, 19F NMR, GcMS, HRMS and IR. The crystal （c12HgFO4, Mr = 236.19） belongs to the monoclinic system, space group P21/c, a = 19.1609（8）, b = 7.9831（3）, c = 13.7715（6） A, V= 2106.13（15） A3, Z= 8, Dx = 1.490 Mg m-3, MoKa radiation, 2 = 0.71073 A,μ = 0.12 mm-1, F（000） = 976, the final R = 0.025 and wR = 0.1300 for 4505 observed reflections with I〉 2σ（I）.

关键词： organo fluorine compounds crystal structure 1,3-bis-silylenol ether,phthalyl dichloride condensation reaction

Developing Recipe from Local ceramic Raw Materials for Making crucibles in Ghana

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Journal of Minerals and Materials characterization and Engineering 2023年第4期11卷 92-113页

作者： Kofi Asante-Kyei alexander Addae Ahmed Aflo Department of ceramic Technology Takoradi Technical University Takoradi Ghana

The study experimented with using local ceramic raw materials (white clay, kaolin and silica or quartz) found in AssinFosu in the central Region of Ghana to manufacture crucibles for melting metals and other precious minerals. Various physical tests were conducted on the materials to arrive at the body compositions. The compositions were also investigated for their elemental components by using X-ray fluorescence (XRF). The results revealed that the composition of cruc containing 70% of white clay, 20% of kaolin, 8% of quartz and 2% of white grog;sintered at 1500˚c was very successful and therefore used to develop the recipe to manufacture the proposed crucibles. The “throwing” technique was employed to fabricate the crucibles. Test for thermal expansion was conducted for the manufactured crucibles at 1000˚c for thermal shock and microcracking tests. It was found out among others, that the recipe developed had very good physical and chemical properties of alumina silicate refractory materials and was fit for use at any high-temperature application. The study also recommended among others, that the researchers and institutions responsible for clay research such as Ghana Geological Survey Authority (GGSA) and centre for Scientific and Industrial Research (cSIR) collaborate to improve upon this innovative idea.

关键词： White clay crucibles compositions Throwing Kaolin Quartz

Research on the Dynamics of the Hormonal Status of Athletes in a Series of Vibration and Traditional Training Exercises

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中国体育科技 2009年第1期45卷 21-26页

作者： alexander A. Mikheev Scientifi c Research Institute of Physical culture andSports of Republic of Belarus Minsk Belarus

The article presents the most important results of metabolic (hormonal) study of dosed vibration training (DVT).The author presents vibrating training as an alternative to anabolic steroids on the basis of a comparison of the effectiveness of two types of stimulants - forbidden (doping) and non-medicinal non-invasive, relating to permitted physical *** study shows that the level of androgens (testosterone),corticosteroids (cortisol), thyroid hormones (thyroxine,triiodothyronine),hormones of adenohypophysis (prolactin) increased under the effect of dosed vibration *** the same time the level of hormones have no changes under traditional strength training with the use of a synthetic anabolic steroid (retabolil).For the duration of a limited period of time (1 microcycles) dosed vibrotraining causes a more powerful secretion of testosterone than the traditional strength training with the use of anabolic steroids. In this case,the overall time spent on the performance of the DVT training program comprises not more than 15% of the time spent on the traditional training exercises.

关键词：体育运动兴奋剂雄性激素体育训练

computational Design of Rare-Earth Reduced Permanent Magnets

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Engineering 2020年第2期6卷 148-153页

作者： alexander Kovacs Johann Fischbacher Markus Gusenbauer Harald Oezelt Heike c.Herper Olga Yu.Vekilova Pablo Nieves Sergiu Arapan Thomas Schrefl Department for Integrated Sensor Systems Danube University KremsWiener Neustadt 2700Austria Department of Physics and Astronomy Uppsala UniversityUppsala 75120Sweden International Research centre in critical Raw Materials for Advanced Industrial Technologies University of BurgosBurgos 09001Spain IT4Innovations VSB-Technical University of OstravaOstrava-Poruba 70833Czech Republic

Multiscale simulation is a key research tool in the quest for new permanent *** with first principles methods,a sequence of simulation methods can be applied to calculate the maximum possible coercive field and expected energy density product of a magnet made from a novel magnetic material ***(Fe)-rich magnetic phases suitable for permanent magnets can be found by means of adaptive genetic *** intrinsic properties computed by ab initio simulations are used as input for micromagnetic simulations of the hysteresis properties of permanent magnets with a realistic *** machine learning techniques,the magnet’s structure can be optimized so that the upper limits for coercivity and energy density product for a given phase can be *** property relations of synthetic permanent magnets were computed for several candidate hard magnetic *** following pairs(coercive field(T),energy density product(kJ·m^-3))were obtained for iron-tin-antimony(Fe3Sn0.75Sb0.25):(0.49,290),L10-ordered iron-nickel(L10 FeNi):(1,400),cobalt-iron-tantalum(coFe6Ta):(0.87,425),and manganese-aluminum(MnAl):(0.53,80).

关键词： Rare-earth Permanent magnets Micromagnetics

Safety and efficacy of sofosbuvir/velpatasvir/voxilaprevir in postliver transplant patients with previous direct-acting antiviral failure:Six case reports

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World Journal of Hepatology 2020年第12期12卷 1341-1348页

作者： cory Higley christine c Hsu coleman Smith Sandeep Nadella alexander T.Lalos Department of Medicine MedStar Georgetown University HospitalWashingtonDC 20007United States Transplant Institute MedStar Georgetown University HospitalWashingtonDC 20007United States Department of Gastroenterology Medstar Georgetown University HospitalWashingtonDC 20007United States

BAcKGROUND Direct-acting antiviral(DAA)therapy regimens are highly effective at eliminating hepatitis c virus(HcV)infection but rates of sustained virologic response(SVR)are lower in patients with decompensated cirrhosis or hepatocellular *** many of these patients will be referred for liver transplant,they will require retreatment after ***/velpatasvir/voxilaprevir(SOF/VEL/VOX)is recommended by guidelines as the preferred regimen to treat HcV in DAA-experienced patients following liver transplant however there is limited *** SUMMARY We present the cases of six liver transplant recipients who had previous treatment failure with sofosbuvir-based DAA therapy prior to transplantation and who then received SOF/VEL/VOX after *** This case series demonstrate the real-world efficacy and safety of SOF/VEL/VOX in the post liver transplant *** was successful with all patients achieving SVR,it was well tolerated,and there were minimal drug-drug interactions with their immunosuppressants.

关键词： Sofosbuvir/velpatasvir/voxilaprevir Hepatitis c Liver transplant Directacting antiviral Drug-drug interactions case report

Disentangling multiple scattering with deep learning:application to strain mapping from electron diffraction patterns

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npj computational Materials 2022年第1期8卷 2419-2433页

作者： Joydeep Munshi alexander Rakowski Benjamin H.Savitzky Steven E.Zeltmann Jim ciston Matthew Henderson Shreyas cholia Andrew M.Minor Maria K.Y.chan colin Ophus center for Nanoscale Materials Argonne National LaboratoryArgonne DrWoodridge60517ILUSA National center for Electron Microscopy Molecular FoundryLawrence Berkeley National Laboratory1 Cyclotron RoadBerkeley94720CAUSA Department of Materials Science and Engineering University of California BerkeleyBerkeley94720CAUSA Scientific Data Division Lawrence Berkeley National Laboratory1 Cyclotron RoadBerkeley94720CAUSA

A fast,robust pipeline for strain mapping of crystalline materials is important for many technological *** electron nanodiffraction allows us to calculate strain maps with high accuracy and spatial resolutions,but this technique is limited when the electron beam undergoes multiple ***-learning methods have the potential to invert these complex signals,but require a large number of training *** implement a Fourier space,complex-valued deep-neural network,FcU-Net,to invert highly nonlinear electron diffraction patterns into the corresponding quantitative structure factor ***-Net was trained using over 200,000 unique simulated dynamical diffraction patterns from different combinations of crystal structures,orientations,thicknesses,and microscope parameters,which are augmented with experimental *** evaluated FcU-Net against simulated and experimental datasets,where it substantially outperforms conventional analysis *** code,models,and training library are open-source and may be adapted to different diffraction measurement problems.

关键词： valued adapted crystalline

NMR chemical shifts of carbon atoms and characteristic shift ranges in the oil sample

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Petroleum Research 2022年第2期7卷 269-274页

作者： Ilfat Z.Rakhmatullin Sergej V.Efimov alexander V.Klochkov Oleg I.Gnezdilov Mikhail A.Varfolomeev Vladimir V.Klochkov Kazan Federal University 18 Kremlevskaya St.Kazan420008Russian Federation

Application of high resolution^(13)c nuclear magnetic resonance(NMR)spectroscopy to characterize crude oil was *** chemical shifts of^(13)c NMR functional groups that determine the composition of the oil sample were *** fractions of primary,secondary,quaternary,tertiary,aromatic groups,aromatic factor and average hydrocarbon chain length of aliphatic hydrocarbons of the oil sample according to^(13)c NMR spectra were *** description of the^(13)c NMR spectra of the oil sample using a single consideration of three NMR spectra:^(13)c,^(13)c Attached Proton Test(APT),^(13)c with Gated Decoupling(GD)was *** different contribution of the studied oil sample in the aliphatic(10e75 ppm)and aromatic(115e165 ppm)areas of the^(13)c NMR spectra was *** presence of all major hydrocarbon components in the studied oil sample was established on the quantitative level,the aromaticity factor and the mean length of the hydrocarbon chain were *** fractions of aromatic molecules and functional groups constituting oil hydrocarbons were *** this work we demonstrate that the attached proton test and gated decoupling^(13)c NMR spectroscopy can afford all information to complete the chemical shift assignment of an oil sample,especially for determination of long range 1He^(13)c coupling constants and^(13)c multiplicity.

关键词： ^(13)c NMR spectroscopy crude oil Oil fraction Functional group Qualitative analysis Quantitative composition Aromaticity Attached proton test Gated decoupling

Melanoma:Molecular genetics,metastasis,targeted therapies,immunotherapies,and therapeutic resistance

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Genes & Diseases 2022年第6期9卷 1608-1623页

作者： William Wagstaff Rimel N.Mwamba Karina Grullon Mikhayla Armstrong Piao Zhao Bryce Hendren-Santiago Kevin H.Qin alexander J.Li Daniel A.Hu Andrew Youssef Russell R.Reid Hue H.Luu Le Shen Tong-chuan He Rex c.Haydon The Pritzker School of Medicine and the Medical Scientist Training ProgramThe University of Chicago Medical CenterChicagoIL 60637USA Molecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation MedicineThe University of Chicago Medical CenterChicagoIL 60637USA Department of Orthopaedic Surgery The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016PR China Laboratory of craniofacial Suture Biology and Development Department of Surgery Section of Plastic SurgeryThe University of Chicago Medical CenterChicagoIL 60637USA Department of Surgery The University of Chicago Medical CenterChicagoIL 60637USA

cutaneous melanoma is a common cancer and cases have steadily increased since the mid *** some patients,early diagnosis and surgical removal of melanomas is lifesaving,while other patients typically turn to molecular targeted therapies and immunotherapies as treatment *** sampling of melanomas allows the scientific community to identify the most prevalent mutations that initiate melanoma such as the BRAF,NRAS,and TERT genes,some of which can be therapeutically *** initially effective,many tumors acquire resistance to the targeted therapies demonstrating the need to investigate compensatory *** represent an alternative to molecular targeted ***,inter-tumoral immune cell populations dictate initial therapeutic response and even tumors that responded to treatment develop resistance in the long *** the protocol for combination therapies develop,so will our scientific understanding of the many pathways at play in the progression of *** future direction of the field may be to find a molecule that connects all of the ***,noncoding RNAs have been shown to play important roles in melanoma development and *** noncoding RNAs may help us to understand how resistance e both primary and acquired e develops;ultimately allow us to harness the true potential of current *** review will cover the basic structure of the skin,the mutations and pathways responsible for transforming melanocytes into melanomas,the process by which melanomas metastasize,targeted therapeutics,and the potential that noncoding RNAs have as a prognostic and treatment tool.

关键词： BRAF inhibitors checkpoint inhibitors Drug resistance Immunotherapy Melanoma Melanoma metastasis Skin cancer Targeted therapy Therapeutic resistance