缺血性脑卒中病人院前发病过程应对轨迹的质性研究

目的 明确缺血性脑卒中病人和家属院前发病的应对过程,解明其应对规律和影响因素,为构建全面的脑卒中院前干预方案提供科学依据.方法 通过半结构式访谈收集10例个案资料,运用扎根理论研究方法进行资料分析.结果 缺血性脑卒中病人和家属院前发病过程经历了四个阶段,即识别阶段、反应阶段、警觉阶段和行动阶段.结论 健康教育人员应当结合缺血性脑卒中病人和家属院前应对的整个过程,构建全面的、综合性的干预措施.     

Brief Report: Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion

Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here we show that several NIPBL mutations impair the DNA loop extrusion activity of cohesin. Because this activity is required for the formation of chromatin loops and topologically associating domains, which have important roles in gene regulation, our results suggest that defects in cohesin-mediated loop extrusion contribute to the etiology of CdLS by altering interactions between developmental genes and their enhancers.     

Some Aspects of the Burning Process of Antimony and Potassium Manganate(VII) Compositions

Antimony and potassium manganate(VII) compositions are widely used in time delay elements of detonators. Despite the existing literature on such systems, there is no complete information on the burning process of Sb/KMnO₄ compositions in closed systems. There are also no data on the heat of their combustion in conditions of increased pressure without the access of oxygen from the air and on the composition of solid combustion products. These issues are the subject of the presented work.     

Clinical Situations in Which the Diagnosis of Autism is Debatable: An Analysis and Recommendations

The “autism spectrum disorder” (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations.     

Mothers' questionnaire of preschoolers' language and motor skills: a validation study

Objective Parent questionnaires of child motor and language skills are useful in many contexts. This study validates one such measure, the Preschool Child Development Inventory (PCDI), a mother‐answered standardized measure of motor (fine and gross) and language (expression and comprehension) skills of 3–6‐year‐old children. Methods Eighty‐one mothers answered the inventory and their children were concurrently tested on six verbal subtests of WPPSI‐R^IS. Results The six language and motor subtests of the PCDI revealed the predicted convergent and divergent correlations with the verbal subtests of the WPPSI‐R^IS. As predicted, the motor subtests diverged and the language subtests converged with the expected WPPSI‐R^IS subtests. Principal components analysis of all the measures (the PCDI and the WPPSI‐R^IS subtests) revealed two components, verbal and motor in content. Conclusions The findings support the validity of a mother‐answered inventory to assess language and motor development. It is pointed out that such inventories are a viable brief and cost effective alternative to individual testing, both to supplement such measures in clinical practice and as main information in research, for example on determinants of development. Some suggestions are made for future research and applications.     

Three endpoints of in vivo tumour radiobiology and their statistical estimation

Purpose:?To review the existing endpoints of tumour growth delay assays in experimental radiobiology with an emphasis on their efficient estimation for statistically significant identification of the treatment effect. To mathematically define doubling time (DT), tumour-growth delay (TGD) and cancer-cell surviving fraction (SF) in?vivo using exponential growth and regrowth models with tumour volume measurements obtained from animal experiments.

Materials and methods:?A statistical model-based approach is used to define and efficiently estimate the three endpoints of tumour therapy in experimental cancer research.

Results:?The log scale is advocated for plotting the tumour volume data and the respective analysis. Therefore, the geometric mean should be used to display the mean tumour volume data, and the group comparison should be a t-test for the log volume to comply with the Gaussian-distribution assumption. The relationship between cancer-cell SF, TGD and rate of growth is rigorously established. The widespread formula for cell kill is corrected; it has been rigorously shown that TGD is the difference between DTs. The software for the tumour growth delay analysis based on the mixed modeling approach with a complete set of instructions and example can be found on the author's webpage.

Conclusions:?The existing practice for TGD data analysis from animal experiments suffers from imprecision and large standard errors that yield low power and statistically insignificant treatment effect. This practice should be replaced with a model-based statistical analysis on the log scale.     

Interpretation of compound nouns by adolescents with specific language impairment and autism spectrum disorders: An investigation of phenotypic overlap

Abstract

The study aimed to investigate (i) whether adolescents with Specific Language Impairment (SLI) and Autism plus Language Impairment (ALI) experience word-formation difficulties, and (ii) whether these two groups present with a similar language phenotype. The study investigated four groups using a 2 (language status) ×2 (autism status) design; adolescents with SLI (n =?14), ALI (n =?16), Autism Language-Typical (ALT; n =?14), and language matched controls (n =?17), with all groups presenting with typical non-verbal skills. Mean age was 14;10. Comprehension of conventional Noun–Noun lexical compounds (e.g., snowman), synthetic compounds (SCs, e.g., cat chaser), and novel root compounds (RCs, e.g., sheep socks), was assessed using a forced-choice picture selection task. The SLI and ALI participants frequently mis-parsed the SCs, interpreting the first noun as the agent. Those with poorer vocabularies and non-word repetition had greater difficulties. Reaction time (RT) profiles were flatter in the ASD groups, with similar RTs across different compounds. Language difficulties in the SLI and ALI groups extend to word-formation processes; for example, comprehension of SCs. This may reflect difficulties making analogies with stored lexical items. Overall the results support the hypothesis of a phenotypic overlap between SLI and ALI.