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排序方式: 共有248条查询结果,搜索用时 15 毫秒
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Dorothy Halliday Beatrice Emmanouil Grace Vassallo Karine Lascelles James Nicholson Saleel Chandratre Geetha Anand Martin Wasik Pieter Pretorius D. Gareth Evans Allyson Parry On behalf of the English NF research group 《Clinical genetics》2019,96(2):151-162
Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England <age 18 (N = 87; male 61%). Mean age at last review was 13.9 years with mean follow-up 6.5 years. Patients were stratified using a validated score (1A/1B:no NF2 pathogenic_variant in blood; 2A/2B:mild/moderate NF2 constitutional or mosaic pathogenic_variant in blood; 3: constitutional truncating exon 2-13 pathogenic_variant. A total of 91% patients had a constitutional NF2 pathogenic_variant (44% de novo). Mean age at first manifestation was 4.3 and 8.8 years in groups 3 and 2A, respectively. Bilateral vestibular schwannoma, intracranial meningioma and spinal schwannoma occurred in 77%, 52% and 65% of group 3 patients, respectively, and 58%, 26% and 33% in 2A. A total of 43% group 3 and 18% 2A had severe unilateral visual loss (logmar >1.0). Focal cortical dysplasia occurred in 26% group 3 and 4% 2A. A total of 48% of group 3 underwent ≥1 major intervention (intracranial/spinal surgery/Bevacizumab/radiotherapy) compared to 35% of 2A; with 23% group 3 undergoing spinal surgery (schwannoma/ependymoma/meningioma resection) compared to 4% of 2A. Mean age starting Bevacizumab was 12.7 in group 3 and 14.9 years in 2A. In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention. 相似文献
83.
The use of high-resolution optical coherence tomography (OCT) to visualize penetration kinetics during the initial phase of chemical eye burns is evaluated. The changes in scattering properties and thickness of rabbit cornea ex vivo were monitored after topical application of different corrosives by time-resolved OCT imaging. Eye burn causes changes in the corneal microstructure due to chemical interaction or change in the hydration state as a result of osmotic imbalance. These changes compromise the corneal transparency. The associated increase in light scattering within the cornea is observed with high spatial and temporal resolution. Parameters affecting the severity of pathophysiological damage associated with chemical eye burns like diffusion velocity and depth of penetration are obtained. We demonstrate the potential of high-resolution OCT for the visualization and direct noninvasive measurement of specific interaction of chemicals with the eye. This work opens new horizons in clinical evaluation of chemical eye burns, eye irritation testing, and product testing for chemical and pharmacological products. 相似文献
84.
AF Collins ; C Goncalves-Dias ; S Haddad ; R Talbot ; R Herst ; BJ Tyler ; E Zuber ; VS Blanchette ; NF Olivieri 《Transfusion》1994,34(6):517-520
BACKGROUND: Previous studies of transfusions of newly formed red cells (neocytes) demonstrated modest extensions of transfusion interval in patients with homozygous beta-thalassemia. STUDY DESIGN AND METHODS: The clinical benefits of a new system of neocyte preparation (Neocel, Cutter Biological, Berkeley, CA), reported to combine ease of preparation with reduction in the transfusion requirements of thalassemia patients, were evaluated. Sixteen thalassemic patients who had undergone splenectomy received eight consecutive, standard, automated, washed red cell transfusions (standard transfusions), followed by eight transfusions with the neocyte preparation (neocyte transfusions). In each arm of the study, mean pretransfusion hemoglobin and mean red cell mass transfused were carefully controlled and were similar. RESULTS: A significant (p < 0.0001) extension of transfusion interval was observed in patients receiving neocyte transfusions (mean +/− SD; 38.7 +/− 34 days; range, 35.0-44.5), over that in those receiving standard transfusions (32.9 +/− 2.5 days; range, 29.6-38.5). The mean prolongation of transfusion interval by neocyte transfusion corresponded to a mean reduction of 25 mL in packed red cells transfused per kg of body weight per patient per year and a mean reduction in transfused iron of 15 percent per year per patient. During neocyte transfusions, blood preparation costs were considerably increased and donor exposure was significantly (p < 0.0005) higher than during the standard transfusion period. CONCLUSION: These data demonstrate that extension of the transfusion interval, and reduction in transfused iron, may be achieved in thalassemic patients by use of the Neocel system. These benefits are achieved, however, with substantial increases in donor exposure and in component preparation costs. 相似文献
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Hasper D Schrage D Niesporek S Knollmann F Barckow D Oppert M 《International journal of cardiology》2006,106(3):407-409
We describe a case of a 41-year-old female patient who was admitted with typical signs of thrombotic-thrombocytopenic purpura. Markers of myocardial ischemia (Troponin T, CK, CK-MB) were even present at admission without symptoms of angina pectoris. Only a few hours after admission the patient developed all signs of cardiogenic shock with subsequently cardiac arrest. Postmortal coronary angiographies showed occlusions in all coronary arteries with significant myocardial necrosis. We are unaware of any report that describes macrovascular occlusions in thrombotic-thrombocytopenic purpura. 相似文献
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Rogerio S Parra Julio MF Chebli Heda MBS Amarante Cristina Flores Jose ML Parente Odery Ramos Milene Fernandes Jose JR Rocha Marley R Feitosa Omar Feres Antonio S Scotton Rodrigo B Nones Murilo M Lima Cyrla Zaltman Carolina D Goncalves Isabella M Guimaraes Genoile O Santana Ligia Y Sassaki Rogerio S Hossne Mauro Bafutto Roberto LK Junior Mikaell AG Faria Sender J Miszputen Tarcia NF Gomes Wilson R Catapani erson A Faria Stella CS Souza Rosana F Caratin Juliana T Senra Maria LA Ferrari 《World journal of gastroenterology : WJG》2019,25(38):5862-5882
BACKGROUND Inflammatory bowel diseases(IBD) have been associated with a low quality of life(QoL) and a negative impact on work productivity compared to the general population.Information about disease control,patient-reported outcomes(PROs),treatment patterns and use of healthcare resources is relevant to optimizing IBD management.AIM To describe QoL and work productivity and activity impairment(WPAI),treatment patterns and use of healthcare resources among IBD patients in Brazil.METHODS A multicenter cross-sectional study included adult outpatients who were previously diagnosed with moderate to severe Crohn's disease(CD) or ulcerative colitis(UC).At enrolment,active CD and UC were defined as having a Harvey Bradshaw Index≥8 or a CD Activity Index≥220 or calprotectin 200 μg/g or previous colonoscopy results suggestive of inadequate control(per investigator criteria) and a 9-point partial Mayo score≥5,respectively.The PRO assessment included the QoL questionnaires SF-36 and EQ-5 D-5 L,the Inflammatory Bowel Disease Questionnaire(IBDQ),and the WPAI questionnaire.Information about healthcare resources and treatment during the previous 3 years was collected from medical records.Chi-square,Fisher's exact and Student's t-/Mann-Whitney U tests were used to compare PROs,treatment patterns and the use of healthcare resources by disease activity(a=0.05).RESULTS Of the 407 patients in this study(CD/UC:64.9%/35.1%,mean age 42.9/45.9 years,54.2%/56.6% female,38.3%/37.1% employed),44.7%/25.2% presented moderate-to-severe CD/UC activity,respectively,at baseline.Expressed in median values for CD/UC,respectively,the SF-36 physical component was 46.6/44.7 and the mental component was 45.2/44.2,the EQ-visual analog scale score was 80.0/70.0,and the IBDQ overall score was 164.0/165.0.Moderate to severe activity,female gender,being unemployed,a lower educational level and lower income were associated with lower QoL(P 0.05).Median work productivity impairment was 20% and 5% for CD and UC patients,respectively,and activity impairment was 30 %,the latter being higher among patients with moderate to severe disease activity compared to patients with mild or no disease activity(75.0% vs 10.0%,P 0.001).For CD/UC patients,respectively,25.4%/2.8% had at least one surgery,38.3%/19.6% were hospitalized,and 70.7%/77.6% changed IBD treatment at least once during the last 3 years.The most common treatments at baseline were biologics(75.3%)and immunosuppressants(70.9%) for CD patients and 5-AS A compounds(77.5%) for UC patients.CONCLUSION Moderate to severe IBD activity,especially among CD patients,is associated with a substantial impact on QoL,work productivity impairment and an increased number of IBD surgeries and hospitalizations in Brazil. 相似文献
90.
A. Cordes A. Strobel C.H. Meyer F. Ender Prof. Dr. N. Schrage 《Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft》2009,106(9):775-782