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1.
neurogenetics - Evidence about the link between glucocerebrosidase (GCase) and parkinsonism is growing. Parkinsonism was described in adult type 1 Gaucher disease (GD); few case reports described...  相似文献   
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T cells are polarized toward regulatory T cells (Tregs) in tumor microenvironment by the shuttling of microRNAs that target T cell–activating signaling pathways. We evaluated the expression of the miR‐182 cluster (miR‐96, 182, and 183) in peripheral blood mononuclear cells (PBMCs) of patients with breast cancer (BC), and T cell polarization by the expression of FOXO1, NFATs, ITK, TCR/CD3 complex, and IL‐2/IL‐2RA. Twenty‐six microRNAs overexpressed in tumor tissues and sera of these patients were extracted by a meta‐analysis. Then, the expression of the miR‐182 cluster was investigated in PBMCs and sera of these patients and correlated with their targets in PBMCs. Finally, miR‐182 was cloned into Jurkat cells to evaluate its effects on T cell polarization. FOXO1, CD3d, ITK, NFATc3, NFATc4, and IL‐2RA were targeted by miR‐182, due to which their expression decreased in PBMCs of patients. Although IL‐6, IL‐17, and TGF‐β increased after miR‐182 transduction, IL‐2 dramatically decreased. We revealed CD4+FOXP3+ T cell differentiation in the miR‐182–transduced group. Although miR‐182 has inhibitory effects on T cells by the inhibition of FOXO1, TCR/CD3 complex, NFATs, and IL‐2/IL‐2RA signaling pathways, it increases FOXP3, TGF‐β, and IL‐17 expression to possibly drive T cell deviation toward the transitional state of IL‐17–producing Tregs and Treg formation in the end.  相似文献   
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The aim of this study was to develop and evaluate a clinically feasible approach to diffusion‐weighted (DW) MRI of the prostate without susceptibility‐induced artifacts. The proposed method relies on an undersampled multi‐shot DW turbo‐STEAM sequence with rotated radial trajectories and a multi‐step inverse reconstruction with denoised multi‐shot phase maps. The total acquisition time was below 6 min for a resolution of 1.4 × 1.4 × 3.5 mm3 and six directions at b = 600 s mm?2. Studies of eight healthy subjects and two patients with prostate cancer were performed at 3 T employing an 18‐channel body‐array coil and elements of the spine coil. The method was compared with conventional DW echo‐planar imaging (EPI) of the prostate. The results confirm that DW STEAM MRI avoids geometric distortions and false image intensities, which were present for both single‐shot EPI (ssEPI) and readout‐segmented EPI, particularly near the intestinal wall of the prostate. Quantitative accuracy of the apparent diffusion coefficient (ADC) was validated with use of a numerical phantom providing ground truth. ADC values in the central prostate gland of healthy subjects were consistent with those measured using ssEPI and with literature data. Preliminary results for patients with prostate cancer revealed a correct anatomical localization of lesions with respect to T2‐weighted MRI in both mean DW STEAM images and ADC maps. In summary, DW STEAM MRI of the prostate offers clinically relevant advantages for the diagnosis of prostate cancer compared with state‐of‐the‐art EPI‐based approaches. The method warrants extended clinical trials.  相似文献   
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Purpose

The objectives of this study were to evaluate emergency medicine resident-performed ultrasound for diagnosis of effusions, compare the success of a landmark-guided (LM) approach with an ultrasound-guided (US) technique for hip, ankle and wrist arthrocentesis, and compare change in provider confidence with LM and US arthrocentesis.

Methods

After a brief video on LM and US arthrocentesis, residents were asked to identify artificially created effusions in the hip, ankle and wrist in a cadaver model and to perform US and LM arthrocentesis of the effusions. Outcomes included success of joint aspiration, time to aspiration, and number of attempts. Residents were surveyed regarding their confidence in identifying effusions with ultrasound and performing LM and US arthrocentesis.

Results

Eighteen residents completed the study. Sensitivity of ultrasound for detecting joint effusion was 86% and specificity was 90%. Residents were successful with ultrasound in 96% of attempts and with landmark 89% of attempts (p = 0.257). Median number of attempts was 1 with ultrasound and 2 with landmarks (p = 0.12). Median time to success with ultrasound was 38 s and 51 s with landmarks (p = 0.23). After the session, confidence in both US and LM arthrocentesis improved significantly, however the post intervention confidence in US arthrocentesis was higher than LM (4.3 vs. 3.8, p < 0.001).

Conclusions

EM residents were able to successfully identify joint effusions with ultrasound, however we were unable to detect significant differences in actual procedural success between the two modalities. Further studies are needed to define the role of ultrasound for arthrocentesis in the emergency department.  相似文献   
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Cancer is one of the major causes of death worldwide. The diagnosis of this disease can cause significant stress, which destroys the patient's hopes, dreams and expectations. The aim of this qualitative phenomenological study was to explore the perceptions of 23 Iranian patients about life with cancer using in-depth and semi-structured interviews as the method of data collection. The data were analyzed using Benner's interpretive thematic analysis method. Four main themes were clarified by studying the patients' experiences of life with cancer: (i) cancer as a kind of divine test; (ii) a very bitter and debilitating experience; (iii) chemotherapy as the most difficult experience of cancer; and (iv) a continuous struggle. Life with cancer is full of suffering, stress and bitterness. Fear and hope are intertwined; this phase can be successfully endured by patience, tolerance and stability. It is also helpful if close relatives can raise the patient's morale. Certainly, in this process, religious beliefs, faith and culture-oriented interventions can significantly help patients deal with cancer.  相似文献   
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