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91.
Laia Rodriguez-Revenga Irene Madrigal Antoni Borrell Josep M. Martinez Joan Sabria Lourdes Martin Wladimiro Jimenez Aurea Mira Celia Badenas Montserrat Milà 《Clinical genetics》2020,98(4):379-383
Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those pregnancies undergoing invasive prenatal diagnosis with a normal fetal ultrasound, conventional karyotyping is still performed. The aims of this study were to establish the diagnostic yield of CMA in prenatal diagnosis, and to provide new data that might contribute to reconsider current practices. We reviewed 2905 prenatal samples with a normal rapid aneuploidy detection test referred for evaluation by CMA testing. Our study revealed pathogenic and reported susceptibility copy number variants associated with syndromic disorders in 4.8% (n = 138/2905) of cases, being 2.8% (n = 81/2905) the estimated added diagnostic value of CMA over karyotyping. Clinically significant CMA abnormality was detected in 5.4% (107/1975) of the fetuses with ultrasound anomalies and in 1.4% (5/345) of those considered as low-risk pregnancies. Our series shows that in prenatal samples, CMA increases 2-fold the diagnostic yield achieved by conventional karyotyping. 相似文献
92.
Marlène Amara Stéphane Bonacorsi Jér?me Bedel Jean-Paul Mira Virginie Laurent Koryna Socha Fabrice Bruneel Béatrice Pangon Jean-Pierre Bédos David Grimaldi 《Journal of clinical microbiology》2014,52(12):4404-4406
We describe an exceptional case of life-threatening group A Escherichia coli-induced purpura fulminans. Genotyping of common polymorphisms in genes involved in innate immunity or coagulation did not reveal known susceptibility to such a manifestation. Genetic analysis of the strain revealed an unusual conserved virulence plasmidic region, pointing out its potential virulence. 相似文献
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Bergman David Modh Ankit Schultz Lonni Snyder James Mikkelsen Tom Shah Mira Ryu Samuel Siddiqui M. Salim Walbert Tobias 《Journal of neuro-oncology》2020,148(2):353-361
Journal of Neuro-Oncology - Outcomes for patients with recurrent high-grade glioma (HGG) progressing on bevacizumab (BEV) are dismal. Fractionated stereotactic radiosurgery (FSRS) has been shown to... 相似文献
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Test‐retest reliability of the default mode network in a multi‐centric fMRI study of healthy elderly: Effects of data‐driven physiological noise correction techniques
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Rocco Marchitelli Ludovico Minati Moira Marizzoni Beatriz Bosch David Bartrés‐Faz Bernhard W. Müller Jens Wiltfang Ute Fiedler Luca Roccatagliata Agnese Picco Flavio Nobili Oliver Blin Stephanie Bombois Renaud Lopes Régis Bordet Julien Sein Jean‐Philippe Ranjeva Mira Didic Hélène Gros‐Dagnac Pierre Payoux Giada Zoccatelli Franco Alessandrini Alberto Beltramello Núria Bargalló Antonio Ferretti Massimo Caulo Marco Aiello Carlo Cavaliere Andrea Soricelli Lucilla Parnetti Roberto Tarducci Piero Floridi Magda Tsolaki Manos Constantinidis Antonios Drevelegas Paolo Maria Rossini Camillo Marra Peter Schönknecht Tilman Hensch Karl‐Titus Hoffmann Joost P. Kuijer Pieter Jelle Visser Frederik Barkhof Jorge Jovicich 《Human brain mapping》2016,37(6):2114-2132
Understanding how to reduce the influence of physiological noise in resting state fMRI data is important for the interpretation of functional brain connectivity. Limited data is currently available to assess the performance of physiological noise correction techniques, in particular when evaluating longitudinal changes in the default mode network (DMN) of healthy elderly participants. In this 3T harmonized multisite fMRI study, we investigated how different retrospective physiological noise correction (rPNC) methods influence the within‐site test‐retest reliability and the across‐site reproducibility consistency of DMN‐derived measurements across 13 MRI sites. Elderly participants were scanned twice at least a week apart (five participants per site). The rPNC methods were: none (NPC), Tissue‐based regression, PESTICA and FSL‐FIX. The DMN at the single subject level was robustly identified using ICA methods in all rPNC conditions. The methods significantly affected the mean z‐scores and, albeit less markedly, the cluster‐size in the DMN; in particular, FSL‐FIX tended to increase the DMN z‐scores compared to others. Within‐site test‐retest reliability was consistent across sites, with no differences across rPNC methods. The absolute percent errors were in the range of 5–11% for DMN z‐scores and cluster‐size reliability. DMN pattern overlap was in the range 60–65%. In particular, no rPNC method showed a significant reliability improvement relative to NPC. However, FSL‐FIX and Tissue‐based physiological correction methods showed both similar and significant improvements of reproducibility consistency across the consortium (ICC = 0.67) for the DMN z‐scores relative to NPC. Overall these findings support the use of rPNC methods like tissue‐based or FSL‐FIX to characterize multisite longitudinal changes of intrinsic functional connectivity. Hum Brain Mapp 37:2114–2132, 2016. © 2016 Wiley Periodicals, Inc. 相似文献
98.
Daniel Neunhäuserer Josef Sturm Mira M. Baumgartlinger David Niederseer Eveline Ledl-Kurkowski Eva Steidle Martin Plöderl Clemens Fartacek Karl Kralovec Reinhold Fartacek Josef Niebauer 《The American journal of medicine》2013
Background
Regular physical activity promotes physical and mental health. Psychiatric patients are prone to a sedentary lifestyle, and accumulating evidence has identified physical activity as a supplemental treatment option.Methods
This prospective, randomized, crossover study evaluated the effects of hiking in high-risk suicidal patients (n = 20) who performed 9 weeks of hiking (2-3 hikes/week, 2-2.5 hours each) and a 9-week control period.Results
All patients participated in the required 2 hikes per week and thus showed a compliance of 100%. Regular hiking led to significant improvement in maximal exercise capacity (hiking period Δ: +18.82 ± 0.99 watt, P < .001; control period: P = .134) and in aerobic capability at 70% of the individual heart rate reserve (hiking period Δ: +8.47 ± 2.22 watt; P = .010; control period: P = .183). Cytokines, associated previously with suicidality (tumor necrosis factor-α, interleukin-6, S100), remained essentially unchanged.Conclusions
Hiking is an effective and safe form of exercise training even in high-risk suicidal patients. It leads to a significant improvement in maximal exercise capacity and aerobic capability without concomitant deterioration of markers of suicidality. Offering this popular mode of exercise to these patients might help them to adopt a physically more active lifestyle. 相似文献99.
Peter J. Mazzaglia Mira Milas Eren Berber Alan Siperstein Jack M. Monchik 《World journal of surgery》2010,34(6):1318-1324
Background
Elevation of parathyroid hormone (PTH) levels is commonly seen in patients with primary hyperparathyroidism (PHPT) who have undergone parathyroidectomy. This study evaluates differences in 2-week postoperative PTH levels in patients having focused-approach surgery versus four-gland exploration. 相似文献100.
Sacha P. Broccard Ali Abbaszadeh Kasbi Sanjay P. Bagaria Jeremy Jones Mira Shoudry Emmanuel M. Gabriel 《Journal of gastrointestinal oncology.》2022,13(1):438
ObjectiveIn this review, we summarize ongoing clinical trials involving liquid biopsies (LB) for colorectal cancer (CRC), outlining the current landscape and the future implementation of this technology. We also describe the current use of LB in CRC treatment at our institution, the Mayo Clinic Enterprise.BackgroundThe use of LB in CRC treatment merits close attention. Their role is being evaluated in the screening, non-intervention, intervention, and surveillance settings through many active trials. This, coupled with the technique’s rapid integration into clinical practice, creates constant evolution of care.MethodsReview of ClinicalTrials.gov was performed identifying relevant and active trials involving LB for CRC. “Colorectal cancer” plus other terms including “liquid biopsies” and “ctDNA” were used as search terms, identifying 35 active trials.ConclusionsLB use for the CRC is actively being investigated and requires close attention. Based on current evidence, Mayo Clinic Enterprise currently uses LB in the non-interventional, interventional and surveillance setting, but not for screening. Results of these trials may further establish the use of LB in the management of CRC. 相似文献