Zobrazení zdroje stránky Warebrowne7228

To characterize the neuro-ophthalmological phenotype of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a reproducible, quantitative outcome measure.<br /><br /> We retrospectively analyzed clinical data from patients with CDD. Complete neuro-ophthalmological assessments, including visual acuity, were evaluated.<br /><br /> Of 26 patients (22 females, four males; median age 4y, interquartile range 2y 1mo-7y 10mo), cerebral visual impairment (CVI), defined as visual dysfunction in the absence of ocular or anterior visual pathway abnormalities, was diagnosed in all those over 2years of age. Ophthalmological examinations revealed nystagmus in 10 patients and strabismus in 24 patients. Visual acuity was measured in 24 patients, by preferential looking in all and by sweep visual evoked potential in 13. Visual acuities were lower than age expectations and demonstrated improvement in the first 3years. Adjusting for age and sex, average preferential looking visual acuity after 2years of age was higher in patients with intact mobility than in those who were non-mobile.<br /><br /> CVI was observed in patients with CDD. Visual acuity improved over time and correlated with mobility. Visual acuity, as a quantifiable measure of visual function, should be considered as an outcome measure in pre-clinical and clinical studies for CDD.<br /><br />CVI was observed in patients with CDD. Visual acuity improved over time and correlated with mobility. Visual acuity, as a quantifiable measure of visual function, should be considered as an outcome measure in pre-clinical and clinical studies for CDD.<br /><br /> Several theories propose that visual acuity impairment is associated with psychosis. Visual impairment could lead to psychosis or the converse, or they may share underlying pathology or risk factors. In the first evidence synthesis in this area for over 25years, we collated studies measuring the association between visual acuity impairment and psychosis.<br /><br /> We searched the MEDLINE, EMBASE, PsycINFO, and Web of Science databases for studies published from 1992 to 2020, using the Newcastle Ottawa Scale to assess risk of bias. We narratively synthesized findings and meta-analyzed sufficiently homogenous results.<br /><br /> We included 40 papers, which reported on 31studies. Evidence from seven cohort studies was inconsistent, which precluded meta-analysis of this study design. These contradictory results also made it difficult to draw conclusions regarding a temporal association. We found evidence for an association from eight cross-sectional studies treating visual acuity impairment as the exposure and psychosis as the outcome [pooled odds ratio (OR) =1.76, 95% confidence interval (CI) 1.34-2.31], and four with the reverse exposure and outcome (OR 1.85, 95% CI 1.17-2.92). Seven case-control studies with mixed findings were found, but only two primarily addressed our research question, and these findings were mixed.<br /><br /> Although evidence supports a cross-sectional association between visual acuity impairment and psychosis, further research is needed to clarify the temporal direction, given the mixed findings in cohort studies. Understanding the association may give insights into prevention strategies for people at risk of visual acuity impairment and psychosis.<br /><br />Although evidence supports a cross-sectional association between visual acuity impairment and psychosis, further research is needed to clarify the temporal direction, given the mixed findings in cohort studies. Understanding the association may give insights into prevention strategies for people at risk of visual acuity impairment and psychosis.Myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes show a male predominance and men with MDS/MPN have worse outcomes, but it is unknown if the mutational burden differs between genders. We reviewed 167 patients with MDS/MPN and found that men had worse overall survival [hazard ratio (HR) 2·09, 95% confidence interval (CI) 1·16-3·75; P = 0·013] independent of subtype, Revised International Prognostic Scoring System score and age at diagnosis. We analysed the genomic data of a subset of 100 patients. Men had 0·88 more somatic mutations on average (95% CI 0·20-1·56, P = 0·011) independent of subtype, sample source and blast percentage. More somatic mutations was associated with a higher incidence of transformation to acute myeloid leukaemia (subdistribution HR 1·30, 95% CI 1·01-1·70; P = 0·046). Men had 0·70 more mutations in high-risk genes [additional sex combs like-1 (ASXL1), enhancer of zeste homolog 2 (EZH2), Runt-related transcription factor 1 (RUNX1), SET binding protein 1 (SETBP1), NRAS proto-oncogene, GTPase (NRAS), stromal antigen 2 (STAG2)] on average (95% CI 0·11-1·29, P = 0·021), and 13-times higher odds of harbouring an EZH2 mutation (95% CI 1·64-102·94, P = 0·015). The presence of an EZH2 mutation was associated with worse survival among men (HR 2·98, 95% CI 1·1-8·0; P = 0·031). [https://www.selleckchem.com/products/hexa-d-arginine.html Hexa-D-arginine concentration] Our present findings suggest that the worse outcomes in men with MDS/MPN are associated with a higher number of somatic mutations, especially in high-risk genes. These results warrant validation in larger cohorts and investigation of the underlying mechanisms.<br /><br /> Studying the organization of functional traits in plant leaves and stems has revealed notable patterns linking function and form; however, evidence of similarly robust organization in root tissues remains controversial. We posit that anatomical traits in roots can provide insight on the overall organization of the root system. We hypothesized that size variation in the tissue outside the stele is related in a nonlinear fashion with functional traits associated with direct resource uptake, including a negative relationship with root architectural traits, and that similar relationships detected in tropical areas also hold true in other biomes.<br /><br /> We addressed our hypotheses using empirical data from 24 tropical tree species in French Guiana, including anatomical measurements in first order roots and functional trait description for the entire fine root system. In addition, we compiled a global meta-analysis of root traits for 500+ forest species across tropical, subtropical, and temperate forests.<br /><br /> Our results supported the expected nonlinear relationships between cortical size and morphological traits and a negative linear trend with architectural traits.