Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016–2020 and provide a comprehensive clinical and genetic landscape in the studied cohort. Molecular diagnosis using exome sequencing was made in 45 families giving a yield of 51.7%. In 9 additional families probable causative variants were detected. We identified disease causing variations in 49 genes that are involved in different functional pathways Among these, 36 had an autosomal recessive pattern, 8 had an autosomal dominant pattern (all inherited de novo), and 5 had an X-linked pattern. In 41 probands where sequence variations in autosomal recessive genes were identified 31 were homozygotes (including 16 from non-consanguineous families). The study added 28 novel pathogenic/likely pathogenic variations. The study also calls attention to phenotypic variability and expansion in spectrum as well as uncovers genes where microcephaly is not reported previously or is a rare finding. We here report phenotypes associated with the genes for ultra-rare NDDs with microcephaly namely ATRIP, MINPP1, PNPLA8, AIMP2, ANKLE2, NCAPD2 and TRIT1.     

慢阻肺急性加重期患者延迟就医与家庭动力学的相关性研究

目的研究慢阻肺急性加重期患者延迟就医与家庭动力学的相关性,希望能够为慢阻肺急性加重期患者拟定护理措施提供科学依据。方法选取2017年1月-2019年12月我院240例诊断为慢阻肺急性加重期的患者为研究对象。根据患者入院就医的时间进行分组,时间≥24h的延迟就医的患者为观察组,时间<24h的及时就医患者为对照组。结果两组患者在文化水平、家庭年收入、在职状态、医疗保险和婚姻状况和APACHEⅡ评分比较(P<0.05)。观察组患者疾病观念、个性化、系统逻辑和家庭氛围得分比对照组高(P<0.05)。Pearman的相关性分析结果显示:慢阻肺急性加重期患者延迟就医时间与各个层面分数以及家庭动力总分呈现负相关性(P<0.05)。应变量为延迟就医为应变量,患者的一般资料为自变量,经Logistic回归分析结果表明:延迟就医的影响因素为文化水平、家庭动力评分、职业状态、家庭收入、婚姻状况和APACHEⅡ评分。结论慢阻肺急性加重期患者家庭动力总分与疾病观念、个性化、系统逻辑和家庭氛围得分与延迟就医时间呈现负相关性,患者延迟就医的影响因素是家庭动力学评分。     

多元化联合教学模式在超声引导下疼痛介入治疗中的应用

目的探讨多元化联合教学模式在超声引导下疼痛介入治疗教学中的应用效果。方法选择2018年1月至2020年12月在北京大学第三医院疼痛科进修的30名医师作为研究对象,将其分为对照组与观察组;对照组采用常规教学模式;观察组采用多元化联合教学模式,比较两组医师技能考核成绩、教学质量评分和满意度评分。结果观察组医师技能考核成绩优良率为93.3%,高于对照组的73.3%(P<0.05);观察组医师对基础理论知识掌握、临床思维能力的提高、学习兴趣的激发、疾病诊治能力的提高4个方面的评分均高于对照组(P<0.01)。结论多元化联合教学模式可促进超声引导下疼痛介入治疗技能的提高,有利于提高学员的综合临床能力。     

Silver Diamine Fluoride Protocol for Reducing Preventable Dental Hospitalisations in Victorian Children

IntroductionThis study was designed to assess whether a dental caries management protocol combining a single application of 38% silver diamine fluoride (SDF) with comprehensive oral health education will successfully divert high-risk children from dental treatment under dental general anaesthesia (DGA), arrest active caries in primary teeth, and improve parent-reported child oral health–related quality of life (OHRQoL).MethodsChildren aged 2 to 10 years, who attended two public dental agencies in Victoria, Australia, and were unable to tolerate restorative treatments in the clinic setting, elected to participate in either a 38% SDF intervention protocol or, alternatively, referral for DGA. Follow-up examinations were completed at 6 months to assess caries progression, decayed missing filled tooth index, PUFA index (pulpal involvement, ulceration, fistula, abscess), DGA referral rates, and OHRQoL (Early Childhood Oral Health Impact Scale [ECOHIS]).ResultsOf the total sample, 89.5% of children (n = 102) [mean (SD) age, 4.1 (1.0) years] with 401 active carious lesions elected to participate in the 38% SDF protocol; 10.5% (n = 12) of parents opted for referral for treatment under DGA. The proportion of active caries subsequently arrested at follow-up (number of arrested lesions/number of lesions treated) was 0.78 (95% CI, 0.69 to 0.87). There was an 88% reduction in referrals for DGA in eligible children over the 6-month period. The 38% SDF intervention group showed a significant improvement in ECOHIS scores at follow-up (P < .001).DiscussionAdoption of the 38% SDF intervention protocol resulted in a significant reduction in the rate of preventable dental hospitalisations. Most parents opted against referral for DGA. Parent-reported OHRQoL for children improved significantly.     

Associations of accelerometer-based sleep duration and self-reported sleep difficulties with cognitive function in late mid-life: the Finnish Retirement and Aging Study

ObjectivesPrior evidence suggests that sleep duration and sleep difficulties may be associated with cognitive function in old age, but little is known about the sleep–cognition association in late mid-life. Our aim was to examine the associations of accelerometer-based sleep duration as well as subjective sleep difficulties with different domains of cognitive function among aging workers.MethodsThe study population consisted of 289 participants (mean age 62.4 years, SD 1.02; 83% women) from the Finnish Retirement and Aging Study (FIREA). Sleep difficulties were measured using Jenkins Sleep Problem Scale (difficulties falling asleep, difficulties maintaining sleep, waking up too early in the morning, and nonrestorative sleep). Sleep duration was measured with wrist-worn accelerometer and self-report, and participants were divided into short (<7 h/night), mid-range (7–9 h/night) and long (≥9 h/night) sleepers. Participants underwent extensive cognitive testing covering three domains: (1) memory, (2) executive function, and (3) attention and information processing.ResultsGreater difficulties in waking up too early in the morning were associated with poorer executive function measured with Spatial Working Memory (SWM) test (p = 0.005). Additionally, nonrestorative sleep was associated with poorer executive function measured with Trail Making Test, B–A, (p = 0.036) and borderline significantly with lower SWM (p = 0.056). Compared to mid-range sleepers, long sleepers tended to have poorer cognitive function (all memory function tests and SWM), but the associations were not statistically significant due to small number of long sleepers.ConclusionsSubjective sleep difficulties may be linked to poorer executive function in a relatively healthy population of older workers in their 60 s. Thus, promoting good sleep quality may translate into better cognitive health in late mid-life.     

The association among demographic factors,health behaviors and sleep quality in youth with Autism Spectrum Disorder

BackgroundA majority of youth with Autism Spectrum Disorder (ASD) have disrupted sleep patterns, but there has been limited research examining factors associated with sleep in this population. Objective: The objective of this study was to compare demographic and lifestyle behaviors with sleep quality in youth with ASD. Methods: A total of 49 children (12.44 years; 78% male) with ASD wore the Actigraph GT9X accelerometer over seven days and nights to assess moderate to vigorous physical activity (MVPA), sedentary behavior (SB), total sleep duration, and sleep efficiency. Parents reported their child’s weekly amount of screen time and demographic information. Participants were classified according to whether they met sleep criteria for duration and efficiency (8–9 h of sleep duration and ≥85% sleep efficiency). T-tests and ANOVA were used to compare demographic and lifestyle factors between the groups. Results: Participants who meet both sleep duration and efficiency criteria had greater minutes of MVPA per day (113.65 min/day) than participants who only met sleep efficiency criteria (40.27 min/day) and participants who did not meet either sleep criteria (67.5 min/day; p < 0.0001). Additionally, participants who met both sleep criteria had fewer minutes of SB compared to those who only met sleep efficiency criteria (384.79 vs 526.05 min/day; p = 0.02). Conclusions: Youth who had indicators of good sleep quality had greater amounts of MVPA and lower amounts of SB. Studies should further examine the relationship between sleep and health behaviors in youth with ASD to determine causal mechanisms, leading to more effective sleep interventions.     

品管圈在植入式静脉输液港患者护理中的应用

目的探讨品管圈在植入式静脉输液港(IVAP)患者护理中的应用。方法选取本院2018年10月-2018年12月IVAP患者30例作为对照组,2019年1月-2019年3月品管圈活动干预后IVAP患者30例作为观察组。对照组采用常规护理措施,观察组采用品管圈活动干预后的护理措施。比较两组IVAP患者并发症的发生率和对护理工作的满意度。结果观察组导管堵塞1例;并发症发生率为3.33%(1/30)。对照组感染4例,血栓2例,导管堵塞4例;并发症发生率为33.33%(10/30)。观察组并发症发生率低于对照组(P <0.05)。观察组对优质服务、技术水平、关怀、出院指导、护理总满意度评分分别为(42.39±5.27)分、(31.49±4.32)分、(22.25±4.69)分、(20.26±4.91)分、(112.24±10.38)分;对照组分别为(38.65±4.91)分、(28.68±4.26)分、(19.96±4.30)分、(19.94±4.63)分、(103.37±10.12)分;观察组对优质服务、技术水平、关怀、出院指导、护理总满意度评分均高于对照组(P <0.05)。结论通过品管圈活动干预后的护理措施明显降低IVAP患者并发症的发生率,提高患者对护理工作的满意度。     

心脏瓣膜置换术后患者的出院准备度现状及其影响因素分析

目的:调查心脏瓣膜置换术后患者的出院准备度现状,并分析其影响因素。方法:于2018年9月至2019年3月用一般资料、出院准备度量表、出院指导质量量表对139例瓣膜置换术后患者进行调查。结果:心脏瓣膜置换术后患者的出院准备度总分为(89.51±8.53)分,与出院指导质量呈正相关;多元回归分析显示,主要照顾者、婚姻状况、工作状态、服药种类、出院指导质量为出院准备度影响因素。结论:心脏瓣膜置换术后患者的出院准备度有待提高,患者感知的个人状态得分不理想;护士应鼓励患者配合进行早期康复,强化出院指导,采取有效措施提供康复信息,满足患者及其家属需求,提高出院准备度。