一例Sifrim-Hitz-Weiss综合征患儿的临床与CHD4基因变异分析

目的探讨一例Sifrim-Hitz-Weiss综合征(Sifrim-Hitz-Weiss syndrome,SIHIWES)患儿的基因型与表型的对应关系。方法收集先证者及其父母的外周血样,提取基因组DNA,采用全外显子测序对先证者进行检测,并应用Sanger测序对先证者及父母进行验证。结果先证者为一例2岁女性患儿,表现为全面发育迟缓、智力障碍、特殊面容等。其产前表现为NT增厚,颅面部异常和胎动减少等。全外显子测序发现患儿CHD4基因发生了致病性变异NM_001273:c.2989C>G(p.Leu997Val)(GRCh37/hg19)。与以往报道的SIHIWES的临床表型相比,该患儿产前临床特征未有描述,而产后某些新的表型包括眼底检查结果和某些特殊面容如左右耳不对称、眼睑下垂、长人中和嘴角下斜等也呈现出来。结论本文研究结果扩展了CHD4基因变异谱,并丰富了SIHIWES的临床表型谱。     

Construct validity of a newly developed instrument: Profile of Occupational Engagement in people with Schizophrenia,POES

It is highly relevant to estimate to what extent a person with schizophrenia engages in occupations and participates in different life situations in order to understand the determinants of well-being in this group of people. This study aimed at examining the construct validity of the instrument Profile of Occupational Engagement in persons with Schizophrenia, POES. Global Assessment of Functioning, GAF, and a scale measuring Satisfaction with daily occupations and Activity level were chosen as standards against which POES was validated. As hypothesized, moderate associations were found between POES and GAF (0.73), Activity level (0.70), and Satisfaction with daily occupations (0.50). Regarding the separate items of POES, the items that concerned the range of occupations performed had the strongest association with Activity level, and the items that concerned ongoing occupations, i.e. Routines and Extent of performing meaningful occupations, correlated most strongly with Satisfaction with daily occupations. Thus, the strongest associations were found for the expected items. Altogether, POES seems to possess satisfactory construct validity and be a construct in its own right, as indicated by correlations of expected size and direction with the selected instruments and for expected items.     

长江江滩江岸段日本血吸虫病流行因素调查

目的了解长江江滩江岸段日本血吸虫病流行因素及其特点,为制定江滩地区血吸虫病防制对策提供依据。方法采用系统抽样法结合环境抽样法,开展江滩钉螺调查工作;根据等距离棋盘式投放法投放鼠夹,对捕获的野鼠通过解剖学与粪便检查法进行检测;采用系统抽样法,收集江滩滩面新鲜人粪、犬粪及其他动物粪便,并进行孵化计算野粪阳性率。结果共调查钉螺面积318.07万m^2,查出有螺面积256.93万m^2,未发现感染性钉螺;共投放鼠夹868个,回收鼠夹738个,捕获野鼠67只,经解剖阳性野鼠2只,野鼠阳性率为0.23%;共收集各类新鲜野粪样本248份,经孵化阳性野粪2份,野粪阳性率为0.81%,阳性野粪经专家鉴定为犬粪。结论江滩地区血吸虫病流行可能与野鼠、狗等哺乳动物有关,但明确各种感染宿主在该地区血吸虫病传播的地位尚待进一步验证。     

Analysis of the cervical spine sagittal alignment in young idiopathic scoliosis: a morphological classification of 120 cases

Purpose

To analyze the relationship between the cervical spine and global spinal-pelvic alignment in young patients with idiopathic scoliosis based on a morphological classification, and to postulate the hypothesis that cervical kyphosis is a part of cervico-thoracic kyphosis in them.

Methods

120 young patients with idiopathic scoliosis were recruited retrospectively between 2006 and 2011. The following values were measured and calculated: cervical angles (CA), cervico-thoracic angles (CTA), pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), spinal sacral angle (SSA), hip to C7/hip to sacrum, thoracic kyphosis (TK), lumbar lordosis (LL), Roussouly sagittal classification, Lenke Type Curve and Lumbar Modifier. The cervical curves were classified as lordosis, straight, sigmoid and kyphosis. They were categorized into four groups as cervical non-kyphosis group (CNK Group), cervical kyphosis group (CK Group), cervical-middle-thoracic kyphosis group (CMTK Group), and cervical-lower-thoracic kyphosis group (CLTK Group) according to their morphological characters of sagittal alignments. All parameters were compared and analyzed among groups.

Results

The incidence of cervical kyphosis was 40 % (48/120). The CA and the CTA were in significant correlation (r = 0.854, P = 0.00). The cervical spine alignments were revealed to be significantly different among groups (r = 85.04, P = 0.00). Significant differences among groups in CA, CTA and TK were also detected. A strong correlation between the group type and Lenke Lumbar Modifier was still seen (P < 0.05). Fisher’s exact test revealed that the individual vertebral body kyphosis and wedging were directly related to the overall cervical kyphosis (P = 0.00, respectively).

Conclusion

The cervical kyphosis is correlated with global sagittal alignment, and is a part of cervico-thoracic sagittal deformity in young patients with idiopathic scoliosis. Despite the deformity in cervical alignment, the global spine could still be well-balanced with spontaneous adjustment. The correlation between our grouping based on the morphological characteristics of the sagittal alignments and Lenke Lumbar Modifier suggests that the coupled motion principle be appropriate to explain the modifications both in coronal and sagittal planes.     

Gender and occupational role differences in work-related post-traumatic stress symptoms,burnout and global functioning in emergency healthcare workers

ObjectivesTo explore gender and occupational role impact on work-related Post-Traumatic Stress Symptoms, Post-Traumatic Stress Disorder, burnout and global functioning in a sample of emergency healthcare workers.DesignA cross-sectional study.Participants/setting126 healthcare workers of the Emergency Department, including Intensive Care Unit, Emergency Room and Emergency Medicine, of a major University Hospital in central Italy were recruited.Main outcome measuresParticipants were assessed by means of the: Trauma and Loss Spectrum-Self Report (TALS-SR) to explore Post-Traumatic Stress Spectrum Symptoms, Professional Quality of Life (ProQOL) Scale to assess Compassion Satisfaction, Burnout and Compassion Fatigue and Work and Social Adjustment Scale (WSAS) to measure global functioning.ResultsThe present findings showed females were more prone to develop Post-Traumatic Stress Symptoms, particularly re-experiencing (p = .010) and hyperarousal (p = .026) symptoms and medical doctors reporting higher Burnout (p < .001) and lower Compassion Satisfaction (p = .009) mean scores than nurses. Higher levels of functioning impairment emerged amongst medical doctors rather than nurses, in both social (p = .029) and private (p = .020) leisure activities. Linear correlations highlighted relationships between the TALS-SR, ProQOL and WSAS scores. Finally, medical doctor status was significantly associated with lower Compassion Satisfaction (p = .029) and higher Burnout (p = .015).ConclusionOur results highlight high post-traumatic stress symptoms and burnout levels in emergency healthcare workers with a relevant impact of female gender and occupational role, supporting the need for preventive strategies, also in light of the current COVID-19 pandemic.     

卫生外交研究领域的中文文献计量分析

目的：了解卫生外交领域中文文献的研究态势,为该领域研究提供参考.方法：采用文献计量学方法,采用Note Express软件描述分析CNKI、万方、VIP中所收录卫生外交中文文献的年份、期刊、研究内容、作者职业和地域分布,运用布拉德福定律分析是否形成核心期刊群.结果：研究显示,1965至2013年6月卫生外交的中文文献共计573篇,刊载于239种期刊;卫生领域研究者发表的文献比国际关系领域早38年;从事相关研究的科研单位和大专院校师生发文量相对较多;所查文献主要分布于中国的30个省份和其他5个国家.结论：进入21世纪后国内研究对卫生外交领域的关注增加,但尚无核心期刊群,国际关系领域开展卫生外交研究有待提高.     

Internationalizing nursing curricula in a rapidly globalizing world

Rapid transformations in our globalizing world means there is an urgency for nurse educators to revitalize curricula to prepare nurses better for practice and the emphasis on achieving global health for all has never been greater. Nurses are being urged to collaborate across borders to achieve the United Nations' Sustainable Development Goals, through research, practice, policy and education. Thus, nurse educators and leaders need to consider the critical importance of internationalizing nurses’ education at all levels, as well being committed to their roles in curricula reform and using innovative technology. There are challenges to internationalization, but the benefits include helping nurses to grow cultural competence, developing strength in nursing voices globally, capacity building in global health, health policy and advocacy, growing scholarship in nursing across borders, developing the skills and knowledge of nurses from low-income countries, and forming partnerships to work together to achieve global health.