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Journal of Molecular Medicine - Chronic exposure to high levels of particulate matter (PM) is correlated to a higher prevalence of cardio-metabolic disturbances. Adipose tissue represents a pivotal...  相似文献   
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The development of patient‐specific induced pluripotent stem cells (iPSCs) offered interesting insights in modeling the pathogenesis of Charcot‐Marie‐Tooth (CMT) disease and thus we decided to explore the phenotypes of iPSCs derived from a single CMT patient carrying a mutant ATP1A1 allele (p.Pro600Ala). iPSCs clones generated from CMT and control fibroblasts, were induced to differentiate into neural precursors and then into post‐mitotic neurons. Control iPSCs differentiated into neuronal precursors and then into post‐mitotic neurons within 6‐8 days. On the contrary, the differentiation of CMT iPSCs was clearly defective. Electrophysiological properties confirmed that post‐mitotic neurons were less mature compared to the normal counterpart. The impairment of in vitro differentiation of CMT iPSCs only concerned with the neuronal pathway, because they were able to differentiate into mesendodermal cells and other ectodermal derivatives. ATP1A1 was undetectable in the few neuronal cells derived from CMT iPSCs. ATP1A1 gene mutation (p.Pro600Ala), responsible for a form of axonal CMT disease, is associated in vitro with a dramatic alteration of the differentiation of patient‐derived iPSCs into post‐mitotic neurons. Thus, the defect in neuronal cell development might lead in vivo to a decreased number of mature neurons in ATP1A1‐CMT disease.  相似文献   
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BackgroundCondylar cartilage acts as a centre of craniofacial complex growth and magnetic resonance imaging (MRI) is the most suitable examination to differentiate tissues and identify pathological conditions of TMJ. Condylar growth disturbance can alter the maxillofacial morphology, including occlusal relationship, and the affected children may not present symptoms. Although TMJ in children is similar to that in adults, the anterior condylar inclination is straight and increases with age, presenting slight condylar flattening and slight contrast enhancement.ObjectiveThe present work aimed to review the literature focussing to assess how MRI and the development of TMJ can contribute to orthopaedic/orthodontic diagnosis in growing patients.Main resultsMRI can also complement the predictive diagnosis of growth in which the image of a double contour of the condyle reveals proliferation of cartilage cells with immature ossification. Considering that orthodontic therapy usually begins after eruption of permanent teeth, the moment of alternation of the double contour-like structure is close or coincident with the eruption of upper second molars.ConclusionClinically, the advantage of diagnosis of double contour is not to use any ionizing radiation related to scan in these subjects. Therefore, MRI could be a choice for the follow-up of growing patients.  相似文献   
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ObjectiveThe aim of this study was to create and validate an abbreviated version of the Spanish Transsexual Voice Questionnaire for Male-to-Female Transsexuals (SvTVQMtF).SettingThe study was conducted by two referral hospitals for voice feminization surgery and by a university department of psychology and speech therapy, all in Spain.Subjects and methodsWe prospectively studied 51 male-to-female transsexuals who underwent voice feminization surgery between January 2017 and December 2018. The SvTVQMtF was completed before and after surgery, and the 10 items with the greatest variation were selected by clinical consensus of an expert panel to develop the short version of the SvTVQMtF (SvTVQMtF-10). The correlation between the total score and the score for each item on the SvTVQMtF and the SvTVQMtF-10 was studied. The internal consistency of the SvTVQMtF-10 was analysed.ResultsGood correlation (Pearson coefficient above .90) was found between the two questionnaires. A significant correlation was found between the total SvTVQMtF-10 score and the score for each item. A significant negative correlation was found between the SvTVQMtF and fundamental frequency after voice feminization surgery. Cronbach's α was .79.ConclusionThe SvTVQMtF-10 is a valid short version of the SvTVQMtF and can be used to quantify voice-related quality of life in MtF transsexuals.  相似文献   
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MRI leverages multiple modes of contrast to characterize stroke. High‐magnetic‐field systems enhance the performance of these MRI measurements. Previously, we have demonstrated that individually sodium and stem cell tracking metrics are enhanced at ultrahigh field in a rat model of stroke, and we have developed robust single‐scan diffusion‐weighted imaging approaches that utilize spatiotemporal encoding (SPEN) of the apparent diffusion coefficient (ADC) for these challenging field strengths. Here, we performed a multiparametric study of middle cerebral artery occlusion (MCAO) biomarker evolution focusing on comparison of these MRI biomarkers for stroke assessment during sub‐acute recovery in rat MCAO models at 21.1 T. T2‐weighted MRI was used as the benchmark for identification of the ischemic lesion over the course of the study. The number of MPIO‐induced voids measured by gradient‐recalled echo, the SPEN measurement of ADC, and 23Na MRI values were determined in the ischemic area and contralateral hemisphere, and relative performances for stroke classification were compared by receiver operator characteristic analysis. These measurements were associated with unique time‐dependent trajectories during stroke recovery that changed the sensitivity and specificity for stroke monitoring during its evolution. Advantages and limitations of these contrasts, and the use of ultrahigh field for multiparametric stroke assessment, are discussed.  相似文献   
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