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101.
102.
S. S. Meshaal R. E. El Hawary D. S. Abd Elaziz A. Eldash R. Alkady S. Lotfy A. A. Mauracher L. Opitz J. Pachlopnik Schmid M. van der Burg J. Chou N. M. Galal J. A. Boutros R. Geha A. M. Elmarsafy 《Clinical and experimental immunology》2019,195(2):202-212
Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual recombinase activity. The aim of this study is to describe a variety of clinical phenotypes in RAG-deficient patients from the highly consanguineous Egyptian population. Thirty-one patients with RAG mutations (from 28 families) were included from 2013 to 2017. On the basis of clinical, immunological and genetic data, patients were subdivided into three groups; classical T–B– severe combined immunodeficiency (SCID), Omenn syndrome (OS) and atypical SCID. Nineteen patients presented with typical T–B–SCID; among these, five patients carried a homozygous RAG2 mutation G35V and five others carried two homozygous RAG2 mutations (T215I and R229Q) that were detected together. Four novel mutations were reported in the T–B–SCID group; three in RAG1 (A565P, N591Pfs*14 and K621E) and one in RAG2 (F29S). Seven patients presented with OS and a novel RAG2 mutation (C419W) was documented in one patient. The atypical SCID group comprised five patients. Two had normal B cell counts; one had a previously undescribed RAG2 mutation (V327D). The other three patients presented with autoimmune cytopaenias and features of combined immunodeficiency and were diagnosed at a relatively late age and with a substantial diagnostic delay; one patient had a novel RAG1 mutation (C335R). PID disorders are frequent among Egyptian children because of the high consanguinity. RAG mutations stand behind several variable phenotypes, including classical SCID, OS, atypical SCID with autoimmunity and T–B+ CID. 相似文献
103.
Tryntsje Fokkema Fred Hartgens Bas Kluitenberg Evert Verhagen Frank J.G. Backx Henk van der Worp Sita M.A. Bierma-Zeinstra Bart W Koes Marienke van Middelkoop 《Journal of Science and Medicine in Sport》2019,22(1):106-111
Objectives
To determine the proportion of participants of a running program for novice runners that discontinued running and investigate the main reasons to discontinue and characteristics associated with discontinuation.Design
Prospective cohort study.Methods
The study included 774 participants of Start to Run, a 6-week running program for novice runners. Before the start of the program, participants filled-in a baseline questionnaire to collect information on demographics, physical activity and perceived health. The 26-weeks follow-up questionnaire was used to obtain information on the continuation of running (yes/no) and main reasons for discontinuation. To determine predictors for discontinuation of running, multivariable logistic regression was performed.Results
Within 26 weeks after the start of the 6-week running program, 29.5% of the novice runners (n = 225) had stopped running. The main reason for discontinuation was a running-related injury (n = 108, 48%). Being female (OR 1.74; 95% CI 1.13–2.68), being unsure about the continuation of running after the program (OR 2.06; 95% CI 1.31–3.24) and (almost) no alcohol use (OR 1.62; 95%CI 1.11–2.37) were associated with a higher chance of discontinuation of running. Previous running experience less than one year previously (OR 0.46; 95% CI 0.26–0.83) and a higher score on the RAND-36 subscale physical functioning (OR 0.98; 95% CI 0.96–0.99) were associated with a lower chance of discontinuation.Conclusions
In this group of novice runners, almost one-third stopped running within six months. A running-related injury was the main reason to stop running. Women with a low perceived physical functioning and without running experience were prone to discontinue running. 相似文献104.
<正>Microtubules (MTs) are cytoskeletal elements formed by a non-covalent association ofα-andβ-tubulin heterodimers. They provide structure and shape to all eukaryotic cells and are implicated in a variety of fundamental cellular processes including cell motility, cell division, 相似文献
105.
Marinus J. Becks Rashindra Manniesing Jeroen Vister Sjoert A.H. Pegge Stefan C.A. Steens Ewoud J. van Dijk Mathias Prokop Frederick J.A. Meijer 《Journal of neuroradiology. Journal de neuroradiologie》2019,46(2):124-129
Background and purpose
To evaluate whether brain CT perfusion (CTP) aids in the detection of intracranial vessel occlusion on CT angiography (CTA) in acute ischemic stroke.Materials and methods
Medical-ethical committee approval of our hospital was obtained and informed consent was waived. Patients suspected of acute ischemic stroke who underwent non-contrast CT(NCCT), CTA and whole-brain CTP in our center in the year 2015 were included. Three observers with different levels of experience evaluated the imaging data of 110 patients for the presence or absence of intracranial arterial vessel occlusion with two strategies. In the first strategy, only NCCT and CTA were available. In the second strategy, CTP maps were provided in addition to NCCT and CTA. Receiver-operating-characteristic (ROC) analysis was used for the evaluation of diagnostic accuracy.Results
Overall, a brain perfusion deficit was scored present in 87–89% of the patients with an intracranial vessel occlusion, more frequently observed in the anterior than in the posterior circulation. Performance of intracranial vessel occlusion detection on CTA was significantly improved with the availability of CTP maps as compared to the first strategy (P = 0.023), due to improved detection of distal and posterior circulation vessel occlusions (P-values of 0.032 and 0.003 respectively). No added value of CTP was found for intracranial proximal vessel occlusion detection, with already high accuracy based on NCCT and CTA alone.Conclusion
The performance of intracranial vessel occlusion detection on CTA was improved with the availability of brain CT perfusion maps due to the improved detection of distal and posterior circulation vessel occlusions. 相似文献106.
AbstractThis paper reviews the military context of exposure to combat and deployment in Dutch soldiers. It does so by reviewing war victims and military psychiatry after WWII in the Netherlands, and describes Dutch deployments from the late 1970s to the present. ‘Who is the Dutch soldier’ is asked to articulate the mental load on the individual soldier before, during, and after deployment. The narrative review of this paper allows one to review how the armed forces personnel is challenged in relation to their specific assignment and in what respect the psychological dimensions are addressed and met in the face of risk and adversity. Finally, some critical considerations for future veterans care programmes are raised. 相似文献
107.
108.
Ragnhild B. Wijma Marloes Emous Merel van den Broek Anke Laskewitz Anneke C. Muller Kobold André P. van Beek 《Surgery for obesity and related diseases》2019,15(1):73-81
Background
Early dumping is a poorly defined and incompletely understood complication after Roux-en-Y gastric (RYGB).Objective
We performed a mixed-meal tolerance test in patients after RYGB to address the prevalence of early dumping and to gain further insight into its pathophysiology.Setting
The study was conducted in a regional hospital in the northern part of the Netherlands.Methods
From a random sample of patients who underwent primary RYGB between 2008 and 2011, 46 patients completed the mixed-meal tolerance test. The dumping severity score for early dumping was assessed every 30 minutes. A sum score at 30 or 60 minutes of ≥5 and an incremental score of ≥3 points were defined as indicating a high suspicion of early dumping. Blood samples were collected at baseline, every 10 minutes during the first half hour, and at 60 minutes after the start.Results
The prevalence of a high suspicion of early dumping was 26%. No differences were seen for absolute hematocrit value, inactive glucagon-like peptide-1, and vasoactive intestinal peptide between patients with or without early dumping. Patients at high suspicion of early dumping had higher levels of active glucagon-like peptide-1 and peptide YY.Conclusion
The prevalence of complaints at high suspicion of early dumping in a random population of patients after RYGB is 26% in response to a mixed-meal tolerance test. Postprandial increases in both glucagon-like peptide-1 and peptide YY are associated with symptoms of early dumping, suggesting gut L-cell overactivity in this syndrome. 相似文献109.
Mara Buijs Patricia J. Zondervan Daniel M. de Bruin Krijn P. van Lienden Axel Bex Otto M. van Delden 《Urologic oncology》2019,37(3):183.e1-183.e8
Background
Irreversible electroporation (IRE) has the potential to overcome limitations of thermal ablation, enabling small renal mass (SRM) ablation near vital structures.Purpose
To assess feasibility and safety of percutaneous IRE for the treatment of SRMs.Materials and methods
This prospective study is a phase 2 trial (NCT02828709) of IRE for patients with SRMs. Primary endpoints are feasibility and safety. Device- and procedural-adverse events were assessed by Clavien-Dindo and Common Terminology Criteria for Adverse Events version 4.0 grading systems. Technical feasibility was assessed by recording the technical success of the procedures. Technical success was evaluated by performing a CT immediately after ablation where complete tumor coverage and nonenhancement were evaluated. Tumor charcateristics and patient characteristics, procedural and anesthesia details, postprocedural events, and perioperative complications were recorded.Results
Ten SRMs were included with a mean tumor size of 2.2 cm (range 1.1–3.9 cm) were treated with IRE. Renal mass biopsies revealed 7 clear cell and 1 papillary renal cell carcinoma. Two renal mass biopsies were nondiagnostic. The median follow-up was 6 months (range 3–12 months). Technical success was achieved in 9 out of 10 cases. One patient had a grade 3 Clavien-Dindo complication (1/10, 95% Confidence interval (CI) 0.0179–0.4041). Mean anesthesia time was 3.7 hours (range 3–5 hours), mean procedural time was 2.1 hours (range 1 hour 45 minutes–2 hours 30 minutes) and mean ablation time was 50 minutes (range 20 minutes–1 hour 45 minutes). The creatinine preoperative and postoperative (1 week, 3 months, 6 months, and 12 months) did not significantly differ. In total, 8 out of 10 cases did not experience postoperative pain.Conclusion
IRE in SRMs is safe and feasible. Renal function is not affected by IRE and postoperative pain is rare. Anesthesia time and procedural time are a potential concern. 相似文献110.
Despite common experiences of identity damage, decline, and deterioration, many brain injury survivors succeed in reconstructing robust identities in the wake of injury. Yet, while this accomplishment greatly benefits survivors’ quality of life, little is known about how positive identity work might be facilitated or enhanced in therapeutic institutions. Drawing on data from a women’s self-help group, we argue that an egalitarian, reflective, strength-focused, and gender-segregated environment can provide female ABI (acquired brain injury) survivors with a fertile scene for identity enhancement and offer unique opportunities for collective identity development. Sociolinguistic interactional analysis revealed four types of positive identity work undertaken within the group: constructing competent selves; tempering the threat of loss and impairment; resisting infantilisation and delegitimisation; and asserting a collective gender identity. This identity work was facilitated by specific programme attributes and activities and contributed to the global project of decentring disability and destigmatising impairments and losses. We call for increased attention to identity issues in brain injury rehabilitation and argue that gender-segregated programming can provide a unique space for female survivors to construct empowering individual and collective identities after injury. 相似文献