检索结果-南通市图书馆

维普期刊数据库

missense mutations of the fibrillin-1 gene in two Chinese patients with severe marfan syndrome

在线全文

学校读者我要写书评

暂无评论

Chinese medical Journal 2001年第5期 25-28页

作者： ivan f.m. lo, Rosanna m.S. WONG, fanny W.f. LAm, Tony m.f. TONG and Stephen T.S. LAm

Objective To describe two Chinese patients with severe forms of.m.rfan syndrome and to report findings of.m.tational analysis of the fibrillin-1 (fBN1) *** Two Chinese patients were studied, one suffering from marfan syndrome of infantile onset and the other of neonatal onset. Their clinical features were described. mutational analysis of the fBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23 - 32,where the mutational hotspots for severe forms of.m.rfan syndrome are *** Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported *** Taking advantage of the clustering phenomenon of.m.tations in severe forms of.m.rfan syndrome, one can identify fBN1 mutations in these patients by first screening the mutational hotspots,thus reducing the effort that would otherwise be much greater because of the size of the gene.

关键词： marfan syndrome fibrillin-1 mutation

维普期刊数据库

Prader-Willi Syndrome:16-Year Experience in Hong Kong

在线全文

学校读者我要写书评

暂无评论

Journal of Genetics and Genomics 2012年第4期39卷 191-194页

作者： ivan f.m. lo Ho ming Luk luksite@*** Tony m.f. Tong Kent K.S. Lai Daniel H.C. Chan Albert C.f. Lam David K.H. Chan Edgar W.L. Hau Connie O.Y. fung Stephen T.S. Lam Clin Genet Serv Dept Hlth Kowloon Hong Kong Peoples R China

Prader-Willi syndrome （PWS） is an important, well-recognized syndromic form of neurodevelopmental disorder. The incidence is about 1 in 15,000-25,000 live births, and it affects both males and f.m.les （Vogels et al... 详细信息

关键词： PWS Prader-Willi Syndrome

维普期刊数据库

BaTiO3 solid solutions co-doped with Gd3+ and Eu3+:Synthesis,structural evolution and dielectric properties

在线全文

学校读者我要写书评

暂无评论

Journal of Rare Earths 2024年第10期 1920-1926页

作者： R.martínez-López m.Pérez-Labra J.A.Romero-Serrano f.R.Barrientos-Hernández m.Reyes-Pérez m.I.Valenzuela-Carrillo G.Urbano-Reyes V.E.Reyes-Cruz G.I.Dávila-Pulido Academic Area of Earth Sciences and materials Autonomous University of Hidalgo State metallurgy and materials Department ESIQIE-IPNUPALM Autonomous University of Coahuila Boulevard Adolfo López Mateos S/n

In this paper,the synthesis,structural evolution,and dielectric properties of BaTiO3solid solutions codoped with rare earth elements(Gd3+and Eu3+) prepared using the solid-state reaction method are *** pure precursor powders of BaCl3,TiO2,Gd2O3,and Eu2O3were mixed in stoichiometric proportions,ground in an agate mortar before being uniaxially pressed at 250 mPa and sintered at 1300℃ in air atmosphere for 6 h to obtain Ba1-3xGd2xTi1-3xEu4xO3（x=0,0.0015,0.01 and0.1）.X-ray diffraction（XRD） and Rietveld's refinement results reveal the crystal phase ferroelectric tetragonal BaTiO3for the samples with x=0,0.0015 and 0.01, as well as a consistent increment in the lattice parameters caused by the *** solubility limit of Gd3+and Eu3+in the BaTiO3structure is reached for the sample with x>0.01,and the orthorhombic Eu2TiO5and monoclinic BaTi2O5secondary phases were *** Raman results show the characteristic peaks of ferroelectric tetragonal BaTiO3around 716 cm-1（lo of A1 symmetry）,515 cm-1（TO of A1 symmetry）,and 305 cm-1（B1）.The maximum relative permittivity measured at 1 kHz was recorded to be 6151.8 for the sample with x=0.0015,and a decrease in the Curie temperature to 105℃ with respect to the undoped sample was *** punctual microanalysis for the samples with x=0.0015,0.01,and 0.1 reveals grains composed of Ba,Ti,O,Gd,and Eu homogeneously distributed in the *** Ba/Ti ratios for samples with x=0.0015,0.01 and 0.1 are 2.86,2.91,and 0.68,respectively,indicating substitution at the Ti site for samples with x=0.0015 and 0.01 and a substitution at the Ba site for the sample with x=0.1.

关键词：

from trees to fleas: masting indirectly affects flea abundance on a rodent host

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Integrative Zoology 2023年第3期18卷 440-452页

作者： ivan BALÁŽ michałBOGDZIEWICZ Sylwia DZIEmIAN-ZWOLAK Carlotta lo PRESTI Aleksandra WRÓBEL milena ZDUNIAK RafałZWOLAK faculty of Natural Sciences and Informatics Constantine the Philosopher University in NitraNitraSlovakia Department of Systematic Zoology Adam Mickiewicz University in Pozna´nPozna´nPoland INRAE LESSEMUniversity Grenoble AlpesSaint-Martind’HèresFrance University of Catania CataniaItaly Department of Zoology Pozna´n University of Life SciencesPozna´nPoland

mast seeding causes strongﬂuctuations in populations of forest ***,this phenomenon can be used as a natural experiment to examine how variation in host abundance affects parasite *** investigatedﬂeas infesting yellow-necked mice in beech forest after 2 mast and 2 non-mast *** tested 2 mutually exclusive scenarios:(1)as predicted by classical models of density-dependent transmission,an increase in host density will cause an increase in ectoparasite abundance(deﬁned as the number of parasites per host),versus(2)an increase in host density will cause a decline inﬂea abundance(“dilution,”which is thought to occur when parasite population growth is slower than that of the host).In addition,we assessed whether masting alters the relationship between host traits(sex and body mass)andﬂea *** found a hump-shaped relationship between host andﬂea ***,the most basic predictions are too simple to describe ectoparasite dynamics in this *** addition,masting modiﬁed seasonal dynamics ofﬂea abundance,but did not affect the relationship between host traits andﬂea abundance(individuals with the highest body mass hosted the mostﬂeas;after controlling for body mass,parasite abundance did not vary between sexes).Our results demonstrate that pulses of tree reproduction can indirectly,through changes in host densities,drive patterns of ectoparasite infestation.

关键词： Apodemusﬂavicollis fagus sylvatica indirect effects pulsed resources Siphonaptera

Targeted therapy for capillary-venous malformations

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Signal Transduction and Targeted Therapy 2024年第7期9卷 3024-3039页

作者： lola Zerbib Sophia Ladraa Antoine fraissenon Charles Bayard marina firpion Quitterie Venot Sanela Protic Clément Hoguin Amandine Thomas Sylvie fraitag Jean-Paul Duong Sophie Kaltenbach Estelle Balducci Coline Lefevre Patrick Villarese Vahid Asnafi Christine Broissand Nicolas Goudin ivan Nemazanyy Gwennhael Autret Bertrand Tavitian Christophe Legendre Nadia Arzouk Veronique minard-Colin Caroline Chopinet michael Dussiot Denise mAdams Tristan mirault Laurent Guibaud Paul Isenring Guillaume Canaud UniversitéParis Cité ParisFrance INSERm U1151 Institut Necker-Enfants MaladesParisFrance Service d’Imagerie Pédiatrique Hôpital Femme-Mère-EnfantHCLBronFrance CREATIS UmR 5220 Villeurbanne 69100France Service de Radiologie mère-Enfant Hôpital NordSaint EtienneFrance Service d’Anatomie pathologique Hôpital Necker-Enfants MaladesAP-HPParisFrance Laboratoire d’Oncohématologie Hôpital Necker-Enfants MaladesAP-HPParisFrance Pharmacie Hôpital Necker-Enfants MaladesAP-HPParisFrance Necker Bio-Image Analysis INSERM US24/CNRS UMS 3633ParisFrance Platform for metabolic Analyses Structure Fédérative de Recherche NeckerINSERM US24/CNRS UMS 3633ParisFrance Plateforme Imageries du Vivant Universitéde ParisPARCCINSERMParisFrance Service de Néphrologie Transplantation AdultesHôpital Necker-Enfants MaladesAP-HPParisFrance Service de Transplantation Hôpital La PitiéSalpétrièreAP-HPParisFrance Department of Pediatric and Adolescent Oncology INSERM 1015Gustave RoussyUniversitéParis-SaclayVillejuifFrance Service de Physiologie&Explorations fonctionnelles Cardiovasculaires CHU de LilleLille 59000France INSERm U1163 Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutic ImplicationsLaboratoire d’Excellence GR-ExParisFrance Division of Oncology Comprehensive Vascular Anomalies ProgramChildren’s Hospital of PhiladelphiaPhiladelphiaPAUSA Service de médecine Vasculaire hôpital Européen Georges-PompidouParisFrance Nephrology Research Group L’Hôtel-Dieu de Québec Research CenterDepartment of MedicineFaculty of MedicineLaval UniversityQuebecQC G1R2J6Canada Unitéde médecine translationnelle et thérapies ciblées Hôpital Necker-Enfants MaladesAP-HPParisFrance CNRS UmR8253 Institut Necker-Enfants MaladesParisFrance

Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK,an endothelial transmembrane receptor signaling through *** malformations are associated with pain,bleedings,thrombosis,pulmonary embolism,esthetic deformities and,in severe cases,life-threatening *** authorized medical treatment exists for patients with venous ***,we created a genetic mouse model of PIK3CA-related capillary venous malformations that replicates patient *** showed that these malformations only partially signal through AKT *** compared the efficacy of different drugs,including rapamycin,a mTORC1 inhibitor,miransertib,an AKT inhibitor and alpelisib,a PI3Kαinhibitor at improving the lesions seen in the mouse *** demonstrated the effectiveness of alpelisib in preventing vascular malformations’occurrence,improving the already established ones,and prolonging *** these findings,we were authorized to treat 25 patients with alpelisib,including 7 children displaying PIK3CA(n=16)or TEK(n=9)-related capillary venous malformations resistant to usual therapies including sirolimus,debulking surgical procedures or percutaneous *** assessed the volume of vascular malformations using magnetic resonance imaging(mRI)for each *** demonstrated improvement in all 25 *** malformations previously considered intractable were reduced and clinical symptoms were *** showed a decrease of 33.4%and 27.8%in the median volume of PIK3CA and TEK malformations respectively,over 6 months on *** conclusion,this study supports PI3Kαinhibition as a promising therapeutic strategy in patients with PIK3CA or TEK-related capillary venous malformations.

关键词： PIK3CA malformations venous

Liver expression of steroid hormones and Apolipoprotein D receptors in hepatocellular carcinoma

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2007年第23期13卷 3221-3227页

作者： fJ Vizoso m Rodriguez A Altadill mL González-Diéguez A Linares lo González S Junquera f fresno-forcelledo mD Corte L Rodrigo Unidad de Investigación. fundación Hospital de Jove. Gijón Spain Gastroenterology Service. Hospital Universitario Central de Asturias. Oviedo Spain Instituto Universitario de Oncología del Principado de Asturias. Oviedo Spain Pathology Service. Hospital Universitario Central de Asturias. Oviedo Spain

AIm: To evaluate the tissular expression of Androgen (A), Estrogen (E) and Progesterone (Pg) receptors, and Apolipoprotein D (ApoD), in liver tumors from resected hepatocellular carcinoma (HCC) cases in order to assess their possible relationship to prognosis. mETHODS: We performed an immunohistochemical study using tissue microarrays (containing more than 260 cancer specimens, from 31 HCC patients and controls) to determine the presence of specif ic antibodies against AR, ER, PgR and ApoD, correlating their findings with several clinico-pathological and biological variables. The staining results were categorized using a semi-quantitive score based on their intensity, and the percentage of immunostained cells was measured. RESULTS: A total of 21 liver tumors (67.7%) were positive for AR; 16 (51.6%) for ER; 26 (83.9%) for PgR and 12 (38.7%) stained for ApoD. We have found a wide variability in the immunostaining score values for each protein, with a median (range) of 11.5 (11.5-229.5) for AR; 11.1 (8.5-65) for ER; 14.2 (4-61) for PgR; and 37.7 (13.8-81.1) for ApoD. A history of heavy ethanol consumption, correlated positively with AR and PgR and negatively with ER status. HCV chronic infection also correlated positively with AR and PgR status. However, the presence of ApoD immunostaining did not correlate with any of these variables. Tumors with a positive immuno-staining for PgR showed a better prognosis. CONCLUSION: Our results indicate a moderate clinical value of the steroid receptor status in HCC, emphasizing the need to perform further studies in order to evaluate the possible role of new hormonal-based therapies.

关键词： Androgen Estrogen Progesterone and Apolipoprotein D receptors Hepatocellular carcinoma Tissue micro-arrays

long, thin transmission chains of Severe Acute Respiratory Syndrome Coronavirus 2 may go undetected for several weeks at low to moderate reproduction numbers: Implications for containment and elimination strategy

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Infectious Disease modelling 2021年第1期6卷 474-489页

作者： Gerry f.Killeen Patricia m.Kearney ivan J.Perry Niall Conroy School of Biological Earth&Environmental SciencesUniversity College CorkCorkIreland Environmental Research Institute University College CorkCorkIreland School of Public Health University College CorkCorkIreland Wide Bay Public Health Unit QueenslandAustralia faculty of.m.dicine University of QueenslandBrisbaneQueenslandAustralia

Severe Acute Respiratory Syndrome Coronavirus 1(SARS-CoV-1)infections almost always caused overt symptoms,so effective case and contact management enabled its effective eradication within ***,Severe Acute Respiratory Syndrome Coronavirus 2(SARS-CoV-2)usually causes only mild symptoms,so transmission chains may grow to include several individuals before at least one index case becomes ill enough to self-report for diagnosis and ***,simple mathematical models were developed to evaluate the implications of delayed index case detection for retrospective contact tracing and management ***,these simulations illustrate how:(1)Contact tracing and management may effectively contain most but not all large SARS-CoV-2 clusters arising at foci with high reproduction numbers because rapidly expanding transmission chains ensure at least one overtly symptomatic index case occurs within two viral generations a week or less apart.(2)However,lower reproduction numbers give rise to thinner transmission chains extending through longer sequences of non-reporting asymptomatic and paucisymptomatic individuals,often spanning three or more viral generations(2 weeks of transmission)before an overtly symptomatic index case occurs.(3)Consequently,it is not always possible to fully trace and contain such long,thin transmission chains,so the community transmission they give rise to is underrepresented in surveillance data.(4)Wherever surveillance systems are weak and/or transmission proceeds within population groups with lower rates of overt clinical symptoms and/or self-reporting,case and contact management effectiveness may be more severely limited,even at the higher reproduction numbers associated with larger outbreaks.(5)Because passive surveillance platforms may be especially slow to detect the thinner transmission chains that occur at low reproduction numbers,establishing satisfactory confidence of elimination may require that no confirmed cases are detec

关键词： Coronavirus COVID SARS2 Severe Acute Respiratory Syndrome Coronavirus 2 SARS-CoV-2 model Epidemiology Outbreak Case and contact management

A multifaceted approach towards understanding the peculiar behavior of(α)-hydroxyiminophosphonates

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Organic Chemistry frontiers 2022年第1期9卷 173-182页

作者： Thomas Toupy Christopher Kune Kristof Van Hecke loïc Quinton Jean-Christophe m.monbaliu Center for Integrated Technology and Organic Synthesis MolSys Research UnitUniversity of LiègeB-4000 Liège(Sart Tilman)Belgium mass Spectrometry Laboratory MolSys Research UnitUniversity of LiègeB-4000 Liège(Sart Tilman)Belgium XStruct Department of ChemistryGhent UniversityKrijgslaan 281-S3B-9000 GhentBelgium

The peculiar isomer-selective reduction of(α)-hydroxyiminophosphonates(oxime isomers)into(α)-hydroxyaminophosphonate(hydroxylamine)derivatives is presented.A library of 16(α)-hydroxyiminophosphonates is prepared and studied via a unique multifaceted approach involving the interplay of NmR,XRD,mS,Im-mS and computational chemistry *** combination of NmR,XRD and HPLC enables the seamless separation,identification and quantification of the oxime isomers(E/Z).Tandem mS(mS/mS)enables the determination of the fragmentation patterns for both *** energy breakdown curves highlight the order of apparition of the fragments as well as their related energy of fragmentation,demonstrating that the strength of the C–P bond in the Z isomers is much weaker than in the E *** chemistry demonstrates that favorable protonation site is isomer-dependent with the phosphonate moiety being the favorable protonation site for the E isomers,while protonation occurs preferentially on the amino moiety for Z isomers regardless of the phosphite *** combination of these various methods led an unprecedented level of characterization of oxime isomers,providing a better uderstanding of the isomer-dependent behavior of(α)-hydroxyiminophosphonates.

关键词： isomers phosphonate moiety

Investigational growth factors utilized in animal models of spinal fusion: Systematic review

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Orthopedics 2019年第4期10卷 176-191页

作者： Ethan Cottrill A Karim Ahmed Noah Lessing Zachary Pennington Wataru Ishida Alexander Perdomo-Pantoja Sheng-fu lo Elizabeth Howell Christina Holmes C Rory Goodwin Nicholas Theodore Daniel m Sciubba Timothy f Witham Department of Neurosurgery The Johns Hopkins Hospital Department of Neurosurgery Duke University Medical Center

BACKGROUND Over 400000 Americans annually undergo spinal fusion surgeries, yet up to 40%of these procedures result in pseudoarthrosis even with iliac crest autograft, the current "gold standard" treatment. Tissue engineering has the potential to solve this problem via the creation of bone grafts involving bone-promoting growth factors(e.g., bone morphogenetic protein 2). A broad assessment of experimental growth factors is important to inform future work and clinical potential in this area. To date, however, no study has systematically reviewed the investigational growth factors utilized in preclinical animal models of spinal *** To review all published studies assessing investigational growth factors for spinal fusion in animal models and identify promising agents for *** We conducted a systematic review of the literature using Pubmed, Embase,Cochrane Library, and Web of Science databases with searches run on may 29 th,2018. The search query was designed to include all non-human, preclinical animal models of spinal fusion reported in the literature without a timespan limit. Extracted data for each model included surgical approach, level of fusion,animal species and breed, animal age and sex, and any other relevant characteristics. The dosages/sizes of all implant materials, spinal fusion rates,and follow-up time points were recorded. The data were analyzed and the results reported in tables and text. PRISmA guidelines were followed for this systematic *** Twenty-six articles were included in this study, comprising 14 experimental growth factors: AB204(n = 1); angiopoietin 1(n = 1); calcitonin(n = 3);erythropoietin(n = 1); basic fibroblast growth factor(n = 1); growth differentiation factor 5(n = 4), combined insulin-like growth factor 1 +transforming growth factor beta(n = 4); insulin(n = 1); NELL-1(n = 5); noggin(n= 1); P-15(n = 1); peptide B2 A(n = 2); and secreted phosphoprotein 24(n = 1).The fusion rates of the current gold sta

关键词： Spinal fusion Growth factor Pseudoarthrosis Systematic review