Benderfreeman4376
Common data elements (CDEs) are standardized questions and answer choices that allow aggregation, analysis, and comparison of observations from multiple sources. Clinical CDEs are foundational for learning health care systems, a data-driven approach to health care focused on continuous improvement of outcomes. We aimed to create clinical CDEs for pediatric epilepsy.
A multiple stakeholder group (clinicians, researchers, parents, caregivers, advocates, and electronic health record [EHR] vendors) developed clinical CDEs for routine care of children with epilepsy. Initial drafts drew from clinical epilepsy note templates, CDEs created for clinical research, items in existing registries, consensus documents and guidelines, quality metrics, and outcomes needed for demonstration projects. The CDEs were refined through discussion and field testing. We describe the development process, rationale for CDE selection, findings from piloting, and the CDEs themselves. We also describe early implementation, including ex1294 encounters at one center.
We created, piloted, refined, finalized, and implemented a novel set of clinical CDEs for pediatric epilepsy.
We created, piloted, refined, finalized, and implemented a novel set of clinical CDEs for pediatric epilepsy.
Real-time microscopic imaging of freshly excised oral squamous cell carcinomas (OSCCs) would be potentially supportive in rapid recognition of oral malignancy and an optimal and time-saving management of patients' surgical treatment.
The aim of this study was to examine oral squamous cell cancer tissue in regards to the commonly known and well-described histomorphologic criteria for the diagnosis of OSCC in ex vivo confocal fluorescent microscopy and to analyze its correlation with grade of differentiation and level of invasiveness.
Ex vivo confocal laser scanning microscopy (CLSM) images of 38 OSCCs were evaluated immediately after excision for presence or absence of various cytological and architectural features based on the histopathological background. Next, these features were compared to the grade of differentiation as elaborated via gold standard histologic examination.
Of 38 invasive OSCCs, 14 were well differentiated, while three moderately and 19 were poorly differentiated. The presence of the commonly known cytologic and histopathologic criteria for the diagnosis of oral squamous cell carcinoma such as the destruction of the basal cell membrane, cellular and nuclear pleomorphism, anisocytosis, intraepithelial keratinization, nuclear hyperchromasia, atypical mitotic figures as well as the presence of necrosis, and mixed inflammation could be observed in ex vivo fluorescence confocal microscopy (FCM). In ex vivo fluorescence confocal microscopy pictures, cellular pleomorphism and anisocytosis were observed more often in poorly differentiated OSCCs. Intraepithelial keratinization was associated with well differentiated and moderately differentiated OSCCs.
The results demonstrate the high potential of ex vivo fluorescence confocal microscopy in fresh tissue for rapid real-time diagnosis of OSCC.
The results demonstrate the high potential of ex vivo fluorescence confocal microscopy in fresh tissue for rapid real-time diagnosis of OSCC.G-quadruplexes (G4) play crucial roles in biology, analytical chemistry and nanotechnology. The stability of G4 structures is impacted by the number of G-quartets, the length and positions of loops, flanking motifs, as well as additional structural elements such as bulges, capping base pairs, or triads. Algorithms such as G4Hunter or Quadparser may predict if a given sequence is G4-prone by calculating a quadruplex propensity score; however, experimental validation is still required. We previously demonstrated that this validation is not always straightforward, and that a combination of techniques is often required to unambiguously establish whether a sequence forms a G-quadruplex or not. In this article, we adapted the well-known FRET-melting assay to characterize G4 in batch, where the sequence to be tested is added, as an unlabeled competitor, to a system composed of a dual-labeled probe (F21T) and a specific quadruplex ligand. PhenDC3 was preferred over TMPyP4 because of its better selectivity for G-quadruplexes. In this so-called FRET-MC (melting competition) assay, G4-forming competitors lead to a marked decrease of the ligand-induced stabilization effect (∆Tm ), while non-specific competitors (e.g., single- or double-stranded sequences) have little effect. compound 78c purchase Sixty-five known sequences with different typical secondary structures were used to validate the assay, which was subsequently employed to assess eight novel sequences that were not previously characterized.
The clustering of arterial stiffness with microvascular disease (MD) and their effects on the clinical outcome of patients with type 2 diabetes (T2D) remains not fully clarified.
In a prospective study of 414 patients with T2D, we investigated the prognostic value of arterial stiffness and MD for clinical outcomes. Participants were assessed for the presence of MD (ie diabetic retinopathy, nephropathy and neuropathy) and arterial stiffness by pulse wave velocity (PWV) and followed-up for a median of 30 (range 1-60) months. The primary endpoint of the study was the composite endpoint of major adverse cardiovascular events, that is, cardiovascular and non-cardiovascular mortality and non-fatal myocardial infarction/stroke.
A total of 146 (35.3%) patients had evidence of MD at baseline. In cox regression models, MD and PWV were independently associated with the composite clinical endpoint; for MD hazard ratio (HR), 3.24, 95%CI, 1.10-9.54, P=.032, and for PWV HR, 1.20, 95%CI, 1.06-1.36, P=.004) after adjustment for traditional risk factors, and enhanced risk discrimination and reclassification. The subgroup of patients with MD and high PWV was associated with increased incidence of the composite clinical endpoint (20.9% vs 1.8% in those with no MD & low PWV, P=.001). Importantly, absence of MD at baseline was associated with no mortality events during the follow-up period. PWV at baseline was not associated with MD progression during follow-up.
These findings support that screening for arterial stiffness and MD in the routine clinical assessment of patients with T2D may enhance prognostication and cardiovascular risk reclassification.
These findings support that screening for arterial stiffness and MD in the routine clinical assessment of patients with T2D may enhance prognostication and cardiovascular risk reclassification.IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT). Several patients harboring IQSEC2 mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype-phenotype correlation, we collected data of 16 patients harboring IQSEC2 point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing IQSEC2. Most of our patients surprisingly shared a moderate-to-mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also IQSEC2 mutated patients may lay under the wide clinical spectrum of RTT and thus IQSEC2 should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for IQSEC2-associated phenotype delineation.Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective cohort, we studied the clinical, cognitive, and behavioral profile of 47 European patients with SMS caused by a 17p11.2 deletion. We update the clinical and neurobehavioral profile of SMS. Intrauterine growth was normal in most patients. Prenatal anomalies were reported in 15%. 60% of our patients older than 10 years were overweight. Prevalence of heart defects (6.5% tetralogy of Fallot, 6.5% pulmonary stenosis), ophthalmological problems (89%), scoliosis (43%), or deafness (32%) were consistent with previous reports. Epilepsy was uncommon (2%). link2 We identified a high prevalence of obstipation (45%). All patients had learning difficulties and developmental delay, but ID range was wide and 10% of patients had IQ in the normal range. Behavioral problems included temper tantrums and other difficult behaviors (84%) and night-time awakenings (86%). Optimal care of SMS children is multidisciplinary and requires important parental involvement. In our series, half of patients were able to follow adapted schooling, but 70% of parents had to adapt their working time, illustrating the medical, social, educative, and familial impact of having a child with SMS.Understanding how mutualisms persist over time requires investigations of how mutualist species coevolve and adapt to the interaction. In particular, the key factors in the evolution of mutualisms are the costs and benefits mutualists experience during the interaction. Here, we used a yeast nutritional mutualism to test how mutualists coevolve and adapt in an obligate mutualism. We allowed two yeast mutualists to evolve together for 15 weeks (about 150 generations), and then we tested if the mutualists had coevolved using time-shift assays. We also examined two mutualistic traits associated with the costs and benefits resource use efficiency and commodity production. We found that the mutualists quickly coevolved. Furthermore, the changes in benefits and costs were nonlinear and varied with evolutionary changes occurring in the mutualist partner. One mutualist initially evolved to reduce mutualistic commodity production and increase efficiency in mutualistic resource use; however, this negatively affected its mutualist partner that evolved reduced commodity production and resource use efficiency. As a result, the former increased commodity production, resulting in an increase in benefits for its partner. The quick, nonlinear, and asynchronous evolution of yeast mutualists closely resembles antagonistic coevolutionary patterns, supporting the view that mutualisms should be considered as reciprocal exploitation.Children with dyslexia are at elevated risk of internalizing (emotional) and externalizing (behavioural) problems. Clever Kids is a nine-week socioemotional well-being programme developed specifically for upper primary school children with dyslexia. link3 In a small randomized-controlled trial, we tested the feasibility, efficacy, and acceptability of the Clever Kids programme. 'Forty children (Mage = 10.45 years, 65% male) with clinically diagnosed dyslexia too part in the study. Children were randomized to either attend Clever Kids (n = 20) or to a wait-list control condition (n = 20). Coping skills, self-esteem, resilience, emotion regulation, and internalizing and externalizing symptoms were measured at pre-programme, post-programme, and at three-month follow-up. Recruitment and retention rates indicate high feasibility for further evaluation of the programme. There was a significant interaction between intervention condition and time for non-productive coping [F(2, 76) = 4.29, p = 0.017, f2 = 0.11]. Children who attended Clever Kids significantly reduced their use of non-productive coping strategies, and this was maintained at three-month follow-up assessment.
