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排序方式: 共有265条查询结果,搜索用时 46 毫秒
1.
Dobrovolny R Dvorakova L Ledvinova J Magage S Bultas J Lubanda JC Elleder M Karetova D Pavlikova M Hrebicek M 《Journal of molecular medicine (Berlin, Germany)》2005,83(8):647-654
We have identified 21 different -galactosidase A gene (GLA) mutations in 22 unrelated Czech and Slovak families with Fabry disease. Eleven of these mutations were novel (point mutations D93N, A135V, D155H, G171R, Q280K, G360S, Q330X, splicing errors c.194ins14, c.801ins36 and deletions c.674_732del59, g.3405_6021del2617). Genotyping of family members for family-specific mutations revealed 55 heterozygotes that manifested clinical symptoms of different severity. To examine the contribution of X-inactivation skewing to disease manifestation in Fabry heterozygotes, we have adopted the Mainz severity scoring scheme and compared the score values with the X-inactivation status in 39 carriers in an age-dependent manner. The age-score trendline of Fabry females who had a predominantly inactivated X-chromosome bearing a wild-type GLA allele (10 of 38 females) was markedly steeper than in the rest of the cohort. One female carrier with an inactivated mutated allele had a low score value when compared to the other heterozygotes of the same age. These data suggest that X-inactivation is indeed a major factor determining the severity of clinical involvement in Fabry heterozygotes. There was a statistically significant difference between the severity score values of heterozygotes with random and non-random X-chromosome inactivation at the 5% level of significance. Further studies will show if the degree of the wildtype allele inactivation will be useful as a predictive marker of severity of phenotype in Fabry heterozygotes. Although the correlation between X-inactivation skewing and presentation of the disease in Fabry heterozygotes has previously been suggested in the literature, this report is among the first attempts to examine this relationship systematically. 相似文献
2.
Marketa Sosnova Anna Maria Zeitlberger Michal Ziga Oliver P. Gautschi Luca Regli Astrid Weyerbrock Oliver Bozinov Martin N. Stienen Nicolai Maldaner 《The spine journal》2021,21(4):610-617
Background ContextSmartphone-based applications enable new prospects to monitor symptoms and assess functional outcome in patients with lumbar degenerative spinal disorders. However, little is known regarding patient acceptance and preference towards new modes of digital objective outcome assessment.PurposeTo assess patient preference of an objective smartphone-based outcome measure compared to conventional paper-based subjective methods of outcome assessment.Study designProspective observational cohort study.Patient sampleFourty-nine consecutive patients undergoing surgery for lumbar degenerative spinal disorder.Outcome measuresPatients completed a preference survey to assess different methods of outcome assessment. A 5-level Likert scale ranged from strong disagreement (2 points) over neutral (6 points) to strong agreement (10 points) was used.MethodsPatients self-determined their objective functional impairment using the 6-minute Walking Test application (6WT-app) and completed a set of paper-based patient-reported outcome measures (PROMs) before and 6 weeks after surgery. Patients were then asked to rate the methods of outcome assessment in terms of suitability, convenience, and responsiveness to their symptoms.ResultsThe majority of patients considered the 6WT-app a suitable instrument (median 8.0, interquartile range [IQR] 4.0). Patients found the 6WT more convenient (median 10.0, IQR 2.0) than the Zurich Claudication Questionnaire (ZCQ; median 8.0, IQR 4.0, p=.019) and Core Outcome Measure Index (COMI; median 8.0, IQR 4.0, p=.007). There was good agreement that the 6WT-app detects change in physical performance (8.0, IQR 4.0). 78 % of patients considered the 6WT superior in detecting differences in symptoms (vs. 22% for PROMs). Seventy-six percent of patients would select the 6WT over the other, 18% the ZCQ and 6% the COMI. Eighty-two percent of patients indicated their preference to use a smartphone app for the assessment and monitoring of their spine-related symptoms in the future.ConclusionsPatients included in this study favored the smartphone-based evaluation of objective functional impairment over paper-based PROMs. Involving patients more actively by means of digital technology may increase patient compliance and satisfaction as well as diagnostic accuracy. 相似文献
3.
Simona Borstnar Marketa Palacova Aleksandra acko Constanta Timcheva Einav Nili Gal-Yam Konstantinos Papazisis Juraj Beniak Pavol Kudela Gbor Rubovszky 《Radiology and oncology》2022,56(2):238
BackgroundThe CDK4/6 inhibitor, ribociclib in combination with endocrine therapy significantly improved progression-free survival in the first line setting in post-menopausal patients with HR+/HER2− advanced breast cancer (ABC) in a pivotal phase 3, placebo-controlled trial (MONALEESA-2) and demonstrated superior overall survival in premenopausal patients with HR+/HER2− ABC (MONALEESA-7). The multinational, phase 3b, CompLEEment-1 trial, which assessed the safety and efficacy of ribociclib plus letrozole in a broader population of patients who have not received prior endocrine therapy for advanced disease, is the largest phase 3 clinical trial to date to evaluate the safety and efficacy of a CDK4/6 inhibitor. We report a subanalysis of data from patients (N = 339) enrolled in the central and south European countries of the SERCE (Southern Europe, RUC, Central Europe) cluster of CompLEEment-1.Patients and methodsMen and women of any menopausal status with HR+/HER2− ABC received once-daily oral ribociclib 600 mg (3-weeks on/1-week-off), plus letrozole 2.5 mg continuously. Men/premenopausal women also received a GnRH-agonist. The primary outcome was the number of patients with adverse events (AEs) over a timeframe of approximately 36 months. Time-to-progression, overall response rate, and clinical benefit rate were also measured.ResultsSafety results in the SERCE subgroup were consistent with those in the pivotal clinical trials of ribociclib in combination with endocrine therapy. Treatment-related AEs leading to dose adjustments/interruption occurred in 63.1% of patients but led to treatment discontinuation in only 10.6%. The most common treatment-related AEs of grade ≥ 3 were neutropenia and transaminase elevations. There were no fatal treatment-related events.ConclusionsThese findings from the SERCE subgroup support the safety and manageable tolerability of ribociclib in a broad range of patients with HR+/HER2− ABC more representative of patients in real-world clinical practice.Key words: CDK4/6 inhibitor, ribociclib, HR+, HER2−, advanced breast cancer, CompLEEment-1 trial 相似文献
4.
Genomewide profiling of copy‐number alteration in monoclonal gammopathy of undetermined significance
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Aneta Mikulasova Jan Smetana Marketa Wayhelova Helena Janyskova Viera Sandecka Zuzana Kufova Martina Almasi Jiri Jarkovsky Evzen Gregora Petr Kessler Marek Wrobel Brian A. Walker Christopher P. Wardell Gareth J. Morgan Roman Hajek Petr Kuglik 《European journal of haematology》2016,97(6):568-575
Monoclonal gammopathy of undetermined significance (MGUS) is a benign condition with an approximate 1% annual risk of symptomatic plasma cell disorder development, mostly to multiple myeloma (MM). We performed genomewide screening of copy‐number alterations (CNAs) in 90 MGUS and 33 MM patients using high‐density DNA microarrays. We identified CNAs in a smaller proportion of MGUS (65.6%) than in MM (100.0%, P = 1.31 × 10?5) and showed median number of CNAs is lower in MGUS (3, range 0–22) than in MM (13, range 4–38, P = 1.82 × 10?10). In the MGUS cohort, the most frequent losses were located at 1p (5.6%), 6q (6.7%), 13q (30.0%), 14q (14.4%), 16q (8.9%), 21q (5.6%), and gains at 1q (23.3%), 2p (6.7%), 6p (13.3%), and Xq (7.8%). Hyperdiploidy was detected in 38.9% of MGUS cases, and the most frequent whole chromosome gains were 3 (25.6%), 5 (23.3%), 9 (37.8%), 15 (23.3%), and 19 (32.2%). We also identified CNAs such as 1p, 6q, 8p, 12p, 13q, 16q losses, 1q gain and hypodiploidy, which are potentially associated with an adverse prognosis in MGUS. In summary, we showed that MGUS is similar to MM in that it is a genetically heterogeneous disorder, but overall cytogenetic instability is lower than in MM, which confirms that genetic abnormalities play important role in monoclonal gammopathies. 相似文献
5.
Littoral cell angioma of the spleen: a study of 25 cases with confirmation of frequent association with visceral malignancies
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6.
Stella Mazurova Marketa Tesarova Jiri Zeman Viktor Stranecky Hana Hansikova Alica Baxova Maria Giertlova Jana Lastuvkova Vanda Chovanova Simona Rusnakova Maria Knapkova Gabriel Minarik Tomas Honzik Martin Magner 《The Journal of dermatology》2020,47(6):663-668
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients. 相似文献
7.
Dusan Kolarik Vaclav Pecha Miroslava Skovajsova Jozef Zahumensky Marketa Trnkova Lubos Petruzelka Michael Halaska Oldrich Sottner Michal Otcenasek Hana Kolarova 《Pathology, research and practice》2013
Breast cancer characteristics obtained at the time of diagnosis are important for setting the basic strategy of the treatment. Reliability of preoperative investigation differs for various features of the disease. The aim of this study was to ascertain the agreements and differences between preoperative and postoperative values. 相似文献
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10.
Veronika Válková Jaroslav Polák Marketa Marková Antonin Vítek Hana Hájková Cyril Šálek Bohumil Procházka Petr Cetkovský Marek Trněný 《Clinical transplantation》2013,27(1):E21-E29
Overall 42 patients (pts) transplanted in hematological CR1 were retrospectively analyzed. Median follow‐up was 15 months (range 2–77). The expression of WT1 gene was measured according to the European Leukaemia Net recommendations. At the time of allogeneic stem cell transplantation (allo‐SCT) 29 pts were WT1‐negative and 13 pts were WT1‐positive. In the univariate analysis, significantly better results were observed in the group of WT1 neg in terms of progression‐free survival (in three yr 77% vs. 27%, p = 0.001). In multivariate analysis, the only significant feature in terms of better OS was WT1 negativity (p = 0.029). Our results show that minimal residual disease status measured by quantitative assessment of WT1 gene in acute myeloid leukemia pts in CR1 significantly affects their future prognosis after allo‐SCT. 相似文献