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Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array:A case report

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World Journal of Clinical Cases 2024年第8期12卷 1517-1522页

作者： Işın Kaya Medical Genetics Bakırçay UniversityÇiğli Education ve Training Hospitalİzmir 35620Turkey

BACKGrOUnD nonallelic homologous recombination(nAHr)of segmental duplications or low copy repeats(LCrs)result in DnA gain/loss and play an important role in the origin of genomic *** SUMMArY A 3-year-old boy was referred for genetic *** genomic hybrid-ization array analysis revealed a loss of 3776 kb in the 4p16.3 chromosomal region and a gain of 3201 kb in the 11p15.5p15.4 chromosomal *** Genomic imbalances caused by nAHr in LCrs result in deletion and duplication syndromes.

关键词： Wolf-Hirschhorn syndrome Silver-russell syndrome recurrent rearrangements Case report

Characterization of bright betatron radiation generated by direct laser acceleration of electrons in plasma of near critical density

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Matter and radiation at Extremes 2024年第2期9卷 26-35页

作者： J.Cikhardt M.Gyrdymov S.Zähter P.Tavana M.M.Günther n.Bukharskii n.Borisenko J.Jacoby X.F.Shen A.Pukhov n.E.Andreev O.n.rosmej Faculty of Electrical Engineering Czech Technical University in Prague16627 Prague 6Czech Republic Goethe University FrankfurtMax-von-Laue-Straße 160438 Frankfurt am MainGermany GSI Helmholtzzentrum für Schwerionenforschung GmbH Planckstraße 164291 DarmstadtGermany Focused Energy GmbH Im Tiefen See 4564293 DarmstadtGermany national research nuclear University MEPhI Kashirskoe shosse 31115409 MoscowRussian Federation Lebedev Physical Institute rAS Leninskiy Prospekt 53119991 MoscowRussian Federation Heinrich-Heine-University Düsseldorf Universitätsstrasse 1DüsseldorfGermany Joint Institute for High Temperatures RASIzhorskaya st.13Bldg.2125412 MoscowRussian Federation Moscow Institute of Physics and Technology Institutskiy Pereulok 9141700 DolgoprudnyRussia

Directed x-rays produced in the interaction of sub-picosecond laser pulses of moderate relativistic intensity with plasma of near-critical density are investigated. Synchrotron-like (betatron) radiation occurs in the process of direct laser acceleration (DLA) of electrons in a relativisticlaser channel when the electrons undergo transverse betatron oscillations in self-generated quasi-static electric and magnetic fields. In anexperiment at the PHELIX laser system, high-current directed beams of DLA electrons with a mean energy ten times higher than the ponderomotive potential and maximum energy up to 100 MeV were measured at 10^(19) W/cm^(2)laser intensity. The spectrum of directed x-raysin the range of 5–60 keV was evaluated using two sets of ross filters placed at 0°and 10°to the laser pulse propagation axis. The differential x-ray absorption method allowed for absolute measurements of the angular-dependent photon fluence. We report 10^(13) photons/sr withenergies >5 keV measured at 0°to the laser axis and a brilliance of 10^(21) photons s^(−1) mm^(−2) mrad−2(0.1%BW)−1. The angular distributionof the emission has an FWHM of 14°–16°. Thanks to the ultra-high photon fluence, point-like radiation source, and ultra-short emissiontime, DLA-based keV backlighters are promising for various applications in high-energy-density research with kilojoule petawatt-class laserfacilities.

关键词： laser acceleration critical

Hepatic perivascular epithelioid cell tumors:Benign,malignant,and uncertain malignant potential

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World Journal of Gastroenterology 2024年第18期30卷 2374-2378页

作者： Marcelo Fabián Amante División Patología Hospital General de Agudos Cosme ArgerichBuenos Aires C1155AHAArgentina División Patología Hospital Alemán de Buenos AiresBuenos Aires C1155AHAArgentina

In 2013,the World Health Organization defined perivascular epithelioid cell tumor(PEComa)as“a mesenchymal tumor which shows a local association with vessel walls and usually expresses melanocyte and smooth muscle markers.”This generic definition seems to better fit the PEComa family,which includes angiomyolipoma,clear cell sugar tumor of the lung,lymphangioleiomyomatosis,and a group of histologically and immunophenotypically similar tumors that include primary extrapulmonary sugar tumor and clear cell myomelanocytic *** cell tumors with this immunophenotypic pattern have also had their malignant variants *** localizing to the liver,preoperative radiological diagnosis has proven to be very difficult,and most patients have been diagnosed with hepatocellular carcinoma,focal nodular hyperplasia,hemangioma,or hepatic adenoma based on imaging *** of a malignant variant of the liver have been ***,reports of malignant variants of these lesions have increased in recent ***,we support the use of the Folpe criteria,which in 2005 established the criteria for categorizing a PEComa as benign,malignant,or of uncertain malignant *** they are not considered ideal,they currently seem to be the best approach and could be used for the categorization of liver tumors.

关键词： PEComas Liver Pathology Malignant Benign Uncertain malignant potential

Contributions to the knowledge of Antarctodon sobrali(Mammalia:Astrapotheria)from the Eocene of Antarctica

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Advances in Polar Science 2024年第1期35卷 48-62页

作者： Javier n.GELFO Consejo nacional de Investigaciones Científicasy Técnicas(COnICET) Buenos Aires C1425FQBArgentina División Paleontología Vertebrados Museo de La PlataFacultad de Ciencias Naturales y Museo de La PlataUniversidad Nacional de La PlataLa Plata B1900FWAArgentina

The Astrapotheria constitutes one of the five orders of extinct South American native ungulates,with a fossil record that also extends to the Eocene of the Antarctic *** contrast to the abundant specimens known for litoptern Sparnotheriodontidae and metatherians,astrapotheres are represented by scant remains assigned to the endemic Antarctodon sobrali and indeterminate astrapotheres,restricted to levels 35C_(u0)and 35n of the Cucullaea I Allomember of the La Meseta *** discovery of alower molar assignable to this species in the Eocene levels of Seymour(Marambio)Island,enables a revision of the diagnosis and the homologies of the dental characters used to describe this taxon.A reanalysis of its phylogenetic relationships reveals the nearly simultaneous presence of basal astrapotheres in the early Eocene of Itaboraí(Brazil),Patagonia,and West *** taxa are characterized by lacking dental specializations usually associated with more abrasive diets like terminal forms of Uruguaytheriinae and *** appears to have thrived on the Antarctic continent during the Early Eocene Climatic Optimum within the paleoclimatic context of a hot-house *** present conditions in Antarctica where no terrestrial mammals inhabit,the early Eocene climate was characterized by warmer temperatures and a biologically diverse environment rich in primary producers,dominated by nothofagus forests,encompassing both deciduous and evergreen forests,which supported a diverse assemblage of continental vertebrates.

关键词： Astrapotheria Antarctodon Eocene Seymour Island La Meseta Formation

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Thermo-and pH-sensitive Polymer with Pendant Spacer-linked Imidazole Cycles

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Chinese Journal of Polymer Science 2024年第4期42卷 437-445页

作者： natalya V.Zakharova Stanislav n.Zelinskiy Mariya S.Strelova Elena n.Danilovtseva Vadim V.Annenkov Institute of Macromolecular Compounds of the russian Academy of Sciences Saint Petersburg199004Russia Limnological Institute of Siberian Branch of the russian Academy of Sciences Irkutsk664033Russia

By the reaction of poly(acryloyl chloride) with n-(3-aminopropyl)imidazole, poly(n-(3-(1H-imidazol-1-yl)propyl)acrylamide) was synthesized. The new polymer contains an imidazole ring removed from the main chain by a spacer of five bonds. The structure and purity, molecular weight, hydrodynamic and thermosensitive properties of the obtained sample were studied by1H-and13C-nMr, FTIr spectroscopy, acid-base titration, light scattering, turbidimetry and viscometry. The observed ability of the imidazole-containing polymer to form and destroy associates in water-salt solutions at pH 6.6-7.4 and temperatures of 29-48℃ indicates that these are promising candidates for designing complex biomedical systems. The new polymer is able to form complexes with oligo-DnA more actively than poly(1-vinylimidazole), which is of interest for gene delivery applications. The polymer cross-linked with epichlorohydrin gives micro-relief coatings on the plastic surface, and the modified surface is able to attach negatively charged objects. This thermo-and pH-sensitive polymer modification can be applied to create finely controlled surfaces for cell culturing.

关键词： Imidazole-containing polymer Thermolability pH-sensitivity The modified surface DnA immobilization

Imprints of a gravitational wave through the weak field deflection of photons

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Chinese Physics C 2024年第8期48卷 240-245页

作者： reggie C.Pantig AliÖvgün Physics Department Mapúa University658 Muralla St.IntramurosManila 1002Philippines Physics Department Eastern Mediterranean UniversityFamagusta99628 North Cyprusvia Mersin 10Turkiye

In this study,we investigate the novel phenomenon of gravitational lensing experienced by gravitational waves traveling past a Schwarzschild black hole perturbed by a specific,first-order,polar gravitational *** apply the Gauss-Bonnet theorem,finding a topological contribution to the deflection of light rays passing near the black *** demonstrate that the deflection angle can be determined by analyzing a region entirely outside the path of the light ray,leading to a calculation based solely on the parameters of the perturbing wave(Legendre polynomial order,l;frequency,σ).This approach offers a unique perspective on gravitational lensing and expands our understanding of black hole interactions with gravitational waves.

关键词： supermassive black holes gravitational waves chaos weak deflection angle Gauss-Bonnet theorem

The impact of maternal immune activation on the morphology and electrophysiological properties of postnatally-born neurons in the offspring

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neural regeneration research 2024年第2期19卷 399-400页

作者： Emilio J.Galván Angelica Zepeda Departamento de Farmacobiología CINVESTAV Unidad Sur CdMxMéxico、Centro de Investigaciones sobre el EnvejecimientoCIE-CinvestavCdMxMéxico Departamento de Medicina Genómica y Toxicología Ambiental Instituto de Investigaciones BiomédicasUniversidad Nacional Autónoma de MéxicoUNAMCdMxMéxico

Pregnancy comes with a combination of physical changes and physiological immunosuppression that increases the susceptibility of women to pathogens and in turn,rises the prevalence of infectious diseases.

关键词： prevalence activation impact

Implications of regional identity for neural stem and progenitor cell transplantation in the injured or diseased nervous system

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neural regeneration research 2024年第4期19卷 715-716页

作者： Prakruthi Amar Kumar Jennifer n.Dulin Department of Biology Texas A&M UniversityCollege Station Texas A&M Institute for neuroscience Texas A&M UniversityCollege Station

neural stem and progenitor cell(nSPC)transpla ntation has emerged as a promising therapeutic strategy for replacing lost neuronal populations and repairing damaged neural circuits following nervous system injury and disease.A great deal of experimental work has investigated the biology of nSPC grafting in preclinical animal models;more recently.

关键词： neural system injured

Targeting muscle to treat Charcot-Marie-Tooth disease

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neural regeneration research 2024年第8期19卷 1653-1654页

作者： David Villarroel-Campos James n.Sleigh Department of neuromuscular Diseases and UCL Queen Square Motor neuron Disease Centre UCL Queen Square Institute of NeurologyUniversity College LondonLondonUK UK Dementia research Institute University College LondonLondonUK

Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb *** patients display gait abnormalities,foot deformities,loss of sens... 详细信息

关键词： Marie sensation neuropathy