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41.
Larissa Arning Jörg T. Epplen Elisa Rahikkala Corinna Hendrich Albert C. Ludolph Anne-Dorte Sperfeld 《Neurogenetics》2013,14(1):53-61
Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having ALS4. Yet, epidemiologic and in silico evidence indicates that all newly identified variations and two previously published ALS4-related missense variations (C1554G and I2547T) are most likely non-pathogenic, demonstrating the problems of interpretation of SETX missense alleles in the absence of functional assays. 相似文献
42.
Corinna?M?SadlierEmail author Aisling?Brown John?S?Lambert Gerard?Sheehan Patrick?W?G?MallonEmail author 《AIDS research and therapy》2013,10(1):23
Background
Although the Centres for disease Control and Prevention (CDC) recommends empiric treatment for schistosomiasis and strongyloidiasis (prevalent but treatable parasitic infections) in some refugee groups it is unclear if these guidelines should be extended to non-refugee immigrants from endemic areas. We aimed to assess seroprevalence of, and risk factors for, positive schistosomiasis and strongyloides serology in HIV-infected patients from endemic areas attending a European Infectious Diseases clinic.Methods
In a prospective cohort study, HIV-infected patients from helminth endemic areas underwent clinical assessment and blood draw for schistosomiasis and strongyloides serology, routine haematology and inflammatory markers (ESR and CRP). Between-group differences were analyzed by Wilcoxin Signed Rank and Fisher’s t tests as appropriate.Results
Ninety HIV-infected patients (mean [standard deviation (SD)] age 34 [6] years, 29% male) were recruited from May 2008 to June 2009. Nine (10%) subjects tested positive for helminth infections. Seven tested positive for schistosomiasis (8%) while two tested positive for strongyloides (2%). Seropositive subjects were more likely to have higher eosinophil counts (mean [SD]) (0.3 [0.3] vs. 0.15 [0.2] x103cells/cm, P?=?0.021) with a trend towards lower CD4+ T-cell counts (mean [SD]) (280 [218] vs. 395 [217] cells/mm3, P?=?0.08).Conclusion
The high prevalence of helminth infections (10%) in asymptomatic HIV infected adults identified in this study supports routine screening of immigrants from helminth endemic areas or with exposure history.43.
Rasche L Bernard C Topp MS Kapp M Duell J Wesemeier C Haralambieva E Maeder U Einsele H Knop S 《Annals of hematology》2012,91(7):1031-1037
Extramedullary (e) relapse in multiple myeloma(MM) has an adverse prognosis, but knowledge concerning biological features and preferred treatment is scarce. We screened the myeloma registry of our institution for eMM relapses and identified 24 cases among 357 patients (pts).Only 8% of eMM relapses occurred after initial therapy, but 54% occurred after third-line or subsequent therapy. Baseline molecular cytogenetics revealed high-risk features in 10 of 19 evaluable patients. Most frequently, eMM presented as soft tissue (67%) and organ involvement (25%) or malignant effusion (12.5%). Incidence of leptomeningeal/CNS involvement was 21%. At eMM relapse, bone marrow infiltration was absent in 46% and low in 21%. Ten eMM biopsies were available showing increased proliferation, i.e., Ki-67 of 67%(range, 30–90%) of all cancer cells. Pts received radiation therapy, dose-intense chemotherapy, novel agents, and allogeneic SCT resulting in an overall response rate of 54%. Median progression-free survival was 2 (95% CI 0.08–3.92) and median overall survival 7 months (95% CI 3.56–10.43), respectively,with only three patients being alive at 12 months from diagnosis. EMM relapse may present at any anatomical site with frequent CNS involvement. Biological features include increased proliferation and low rate of marrow involvement.Prognosis remains poor despite intensive treatment. 相似文献
44.
The visual system can predict visual features across saccades based on learned transsaccadic associations between peripheral and foveal input. This has been shown for simple visual features such as shape, size, and spatial frequency. The present study investigated whether transsaccadic predictions are also made for more complex visual stimuli. In an acquisition phase, new transsaccadic associations were established. In the first experiment, pictures of real-world objects changed category during the saccade (fruits were changed into balls or vice versa). In the second experiment, the gender of faces was manipulated during the saccade (faces changed from male to female or vice versa). In the following test phase, the stimuli were briefly presented in the periphery, and participants had to indicate which object or face, respectively, they had perceived. In both experiments, peripheral perception was biased toward the acquired associated foveal input. These results demonstrate that transsaccadic predictions are not limited to a small set of simple visual features but can also be made for more complex and realistic stimuli. Multiple new associations can be learned within a short time frame, and the resulting predictions appear to be object specific. 相似文献
45.
The management of children with craniosynostosis is multidisciplinary and has evolved significantly over the past five decades. The treatment is primarily surgical. The anesthetic challenges continue to be the management of massive blood transfusion and prolonged anesthesia in small children, often further complicated by syndrome‐specific issues. This two‐part review aims to provide an overview of the anesthetic considerations for these children. The first part described the syndromes associated with craniosynostosis, the provision of services in the UK, surgical techniques, preoperative issues and induction and maintenance of anesthesia. This second part will explore hemorrhage control, the use of blood products, metabolic disturbance and postoperative issues. 相似文献
46.
47.
Rob Labruyère Corinna N. Gerber Karin Birrer-Brütsch Andreas Meyer-Heim Hubertus J.A. van Hedel 《Research in developmental disabilities》2013,34(11):3906-3915
We investigated whether children with neurological gait disorders who walked in a driven gait orthosis could adjust their participation level according to the demands of a newly developed rehabilitation game. We further investigated if cognitive capacity and motor impairment influenced game performance. Nineteen children with neurological gait disorders (mean age: 13.4y, 42% girls) participated. To quantify game participation, electromyographic muscle activity (M. rectus femoris) and heart rate were compared in a demanding part and a less demanding part of the game. Cognitive capacity was assessed with the Test of Nonverbal Intelligence (TONI-4). Furthermore, the Functional Independence Measure for Children (WeeFIM), Manual Muscle Tests and a therapist-derived score of how well the child was able to train were assessed. Results showed that muscle activity and heart rate were higher during the demanding part of the game (30.7 ± 22.6 μV; 129.4 ± 15.7 bpm) compared to the less demanding part (16.0 ± 13.4 μV; 124.1 ± 15.9 bpm; p < 0.01 for both measures). Game performance correlated moderately with the TONI-4 (r = 0.50, p = 0.04) and the cognition subscale of the WeeFIM (ρ = 0.59, p = 0.01). The therapist-derived score correlated significantly with game performance (p = 0.75, p < 0.01) and the ability to modify muscle activity to the demands of the game (p = ?0.72, p < 0.01). Receiver operating characteristic analyses revealed that the latter factor differentiated well between those children suitable for the game and those not. We conclude that children with neurological gait disorders are able to modify their activity to the demands of the VR-scenario. However, cognitive function and motor impairment determine to which extent. These results are important for clinical decision-making. 相似文献
48.
49.
Infectious Complications in Children With Acute Myeloid Leukemia and Down Syndrome: Analysis of the Prospective Multicenter Trial AML‐BFM 2004 下载免费PDF全文
50.
Mehnert A Scherwath A Schirmer L Schleimer B Petersen C Schulz-Kindermann F Zander AR Koch U 《Patient education and counseling》2007,66(1):108-118
OBJECTIVE: The possible association between neuropsychological impairment, self-perceived cognitive deficits, fatigue and health related quality of life has been studied in high-risk breast cancer survivors 5 years following standard adjuvant (n=23) versus high-dose chemotherapy (n=24) and in early-stage breast cancer patients (n=29) (comparison group) following radiation therapy. METHODS: A neuropsychological assessment covering attention, memory and executive functions was used together with the questionnaire for self-perceived deficits in attention (FEDA), the multidimensional fatigue inventory (MFI-20) and the EORTC-QLQ-C30. RESULTS: Findings have shown that neuropsychological impairment is not directly associated with self-perceived cognitive deficits, fatigue and HRQOL. However, 46% of patients reported self-perceived cognitive deficits and 82% of the patients complained about cancer related fatigue. Except for reduced activity we did not find significant group differences, even though patients who received standard-dose chemotherapy had consistently higher levels of self-perceived cognitive deficits and fatigue, and the lowest HRQOL. CONCLUSION: Results emphasize the need for psychosocial counseling and support during treatment phase and follow up care as well. Sensitive cancer-specific measures for the assessment of self-perceived cognitive deficits in different cognitive domains according to neuropsychological measurements are required. PRACTICE IMPLICATIONS: The role of self-perceived cognitive deficits and fatigue should be considered in educational interventions and counseling. Specific rehabilitation measures should be developed, implemented and evaluated in order to meet the needs of these patients and to decrease the frequency of cognitive deficits following cancer treatment. 相似文献