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排序方式: 共有6832条查询结果,搜索用时 15 毫秒
141.
Ahmed Aziz Bousfiha Leïla Jeddane Fatima Ailal Waleed Al Herz Mary Ellen Conley Charlotte Cunningham-Rundles Amos Etzioni Alain Fischer Jose Luis Franco Raif S. Geha Lennart Hammarström Shigeaki Nonoyama Hans D. Ochs Chaim M. Roifman Reinhard Seger Mimi L. K. Tang Jennifer M. Puck Helen Chapel Luigi D. Notarangelo Jean-Laurent Casanova 《Journal of clinical immunology》2013,33(6):1078-1087
The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician’s observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way. We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since. 相似文献
142.
Cornelia Speth Gerhard Blum Magdalena Hagleitner Caroline Hörtnagl Kristian Pfaller Beate Posch Helmut Werner Ott Reinhard Würzner Cornelia Lass-Flörl Günter Rambach 《Medical microbiology and immunology》2013,202(5):379-389
Aspergillus terreus-induced invasive infections exhibit high lethality, partly due to the intrinsic resistance for amphotericin B (AmB). We compared the virulence and pathogenesis of an AmB-resistant isolate of A. terreus (ATR) with that of a rare variant showing enhanced sensitivity for AMB (ATS). The modifications that result in enhanced AmB sensitivity of isolates are not associated with reduced virulence in vivo; instead, the ATS-infected mice died even faster than the ATR-infected animals. Since A. terreus enters the blood stream in most patients and frequently induces thrombosis, we studied a putative correlation between virulence of the two A. terreus isolates and their effect on thrombocytes. Those mice infected with the more virulent ATS isolate had lower thrombocyte numbers and more phosphatidylserine exposure on platelets than ATR-infected mice. In vitro experiments confirmed that ATS and ATR differ in their effect on thrombocytes. Conidia, aleurioconidia and hyphae of ATS were more potent than ATR to trigger thrombocyte stimulation, and thrombocytes adhered better to ATS than to ATR fungal structures. Furthermore, ATS secreted more soluble factors that triggered platelet stimulation than ATR. Thus, it might be suggested that the capacity of a fungal isolate to modulate thrombocyte parameters contributes to its virulence in vivo. 相似文献
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Wiebke Onkes Regina Fredrik Francesca Micci Benjamin J Schönbeck Jose I Martin‐Subero Reinhard Ullmann Felix Hilpert Karen Bräutigam Ottmar Janssen Nicolai Maass Reiner Siebert Sverre Heim Norbert Arnold Jörg Weimer 《Genes, chromosomes & cancer》2013,52(5):512-522
About 20% of ovarian carcinomas show alterations of 19p13 and/or 19q13 in the form of added extra material whose origin often is from chromosome 11. Based on earlier spectral karyotype analysis of the ovarian cancer cell line SKOV‐3, which shows an unbalanced translocation der(19)t(11;19), the aim of this study was to determine the precise breakpoints of that derivative chromosome. After rough delimitation of the breakpoints of microdissected derivative chromosomes by array analysis, we designed a matrix of primers spanning 11q13.2 and 19p13.2 detecting multiple amplicons on genomic and cDNA. Sequencing the amplicons, accurate localization of both breakpoints on both chromosomes was possible and we found that exon 14 of HOOK2 from chromosome 19 and exon 2 of ACTN3 from chromosome 11 were fused in the derivative chromosome. The breakpoint in the HOOK2 gene was in an intrinsic triplet of nucleic acids leading to a shift in the ACTN3 reading frame in the derivative chromosome. This frameshift alteration should give rise to an early stop codon causing a loss of function of ACTN3. Signals in two‐dimensional Western blotting exactly match to calculated molecular mass and the isoelectric point of the fusion protein. © 2013 Wiley Periodicals, Inc. 相似文献
146.
Bissinger Ricarda Müller Daniel David Reymus Marcel Khazaei Yegane Hickel Reinhard Bücher Katharina Kühnisch Jan 《Clinical oral investigations》2021,25(1):133-143
Clinical Oral Investigations - The objectives of this retrospective clinical study were to describe characteristics of crown fractures in permanent teeth and to investigate the survival of pulp... 相似文献
147.
Feher Balazs Frommlet Florian Lettner Stefan Gruber Reinhard Nemeth Letizia Elisabeth Ulm Christian Kuchler Ulrike 《Clinical oral investigations》2021,25(11):6093-6099
Clinical Oral Investigations - With only limited information available on dimensional changes after jaw cyst surgery, postoperative cyst shrinkage remains largely unpredictable. We aimed to propose... 相似文献
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Susanne Krämer James Lucas Francisca Gamboa Miguel Peñarrocha Diago David Peñarrocha Oltra Marcelo Guzmán-Letelier Sanchit Paul Gustavo Molina Lorena Sepúlveda Ignacio Araya Rubén Soto Carolina Arriagada Anne W Lucky Jemima E Mellerio Roger Cornwall Fatimah Alsayer Reinhard Schilke Mark Adam Antal Fernanda Castrillón Camila Paredes Maria Concepción Serrano Victoria Clark 《Special care in dentistry》2020,40(Z1):3-81