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Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
(2019)
The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum of primary CMP in a large cohort of patients ≤18 years referred to a tertiary center. Eighty unrelated index patients with pediatric primary CMP underwent genetic testing with a panel-based next-generation sequencing approach of 89 genes. At least one pathogenic or probably pathogenic variant was identified in 30/80 (38%) index patients. In all CMP subgroups, patients carried most frequently variants of interest in sarcomere genes suggesting them as a major contributor in pediatric primary CMP. In MYH7, MYBPC3, and TNNI3, we identified 18 pathogenic/probably pathogenic variants (MYH7 n = 7, MYBPC3 n = 6, TNNI3 n = 5, including one homozygous (TNNI3 c.24+2T>A) truncating variant. Protein and transcript level analysis on heart biopsies from individuals with homozygous mutation of TNNI3 revealed that the TNNI3 protein is absent and associated with upregulation of the fetal isoform TNNI1. The present study further supports the clinical importance of sarcomeric mutation-not only in adult-but also in pediatric primary CMP. TNNI3 is the third most important disease gene in this cohort and complete loss of TNNI3 leads to severe pediatric CMP.
Due to demographic change the number of serious kidney diseases and thus required transplantations will increase. The increased demand for donor organs and a decreasing supply of these organs underline the necessity for effective early rejection diagnostic measures to improve the lifetime of transplants. Expert systems might improve rejection diagnostics but for the development of such systems data models are needed that encompass the relevant information to enable optimal data aggregation and evaluation. Results of a literature review concerning published data models and information systems concerned with kidney transplant rejection diagnostic lead to a set of data elements even if no papers could be identified that publish data models explicitly.
Background: Available preliminary data on menopause does not relate changes in body fat mass (BFM) and handgrip strength (HGS) (an indicator of body/muscle strength) to gait parameters.
Objective: To determine the relationship between BFM, HGS and gait parameters, namely, stride length (SL) (an indicator of walking balance/postural stability), stride frequency (SF), and velocity (V) (gait out- put), to guide gait training.
Methods: Ninety consenting (45 postmenopausal and 45 premenopausal) female staffof the University of Nigeria Teaching Hospital, Enugu, were randomly selected and assessed for BFM and HGS with a hydration monitor and dynamometer, respectively, in an observational study. The mean of 2 trials of the number of steps and time taken to cover a 10-m distance at normal speed was used to calculate SF, SL, and V. Data were analyzed using an independent t test and a Pearson correlation coefficient at P < 0.05.
Results: Premenopausal (BFM = 42.93% [12.61%], HGS = 27.89 [7.52] kg, stride ratio = 1.43, and velocity = 1.04 [0.01] m/sec) and postmenopausal (BFM = 41.55% [12.71%], HGS = 30.91 [7.07] kg, stride ratio = 1.44, and velocity = 1.06 [0.01] m/sec) women showed no significant differences in gait output/velocity ( t = 0.138; P = 0.89; d = 0.029). At postmenopause, BFM was significantly and negatively ( r = –0.369; r 2 = 0.1362; P = 0.013) correlated with SL, whereas HGS was positively and significantly ( r = 0.323; r 2 = 0.104; P = 0.030) correlated with gait output at premenopause.
Conclusions: BFM may adversely influence walking balance at postmenopause, whereas HGS may enhance gait output at premenopause but not postmenopause. Therefore, muscle strengthening alone may not enhance gait output in postmenopausal women without balance training.
The growing importance of social media in the political arena seems to be in line with the mediatization of politics thesis, which states that mediated communication is becoming more important in politics and increasingly influences political processes. However, how politicians’ social media activities and politicians’ perceptions concerning social media have developed over time has rarely been examined. Moreover, it is unclear how the politicians’ activities and perceptions are related to each other. Referring to theoretical approaches, such as the influence of presumed influence approach, four surveys were conducted among German parliamentarians (MPs) between 2012 and 2016 (n = 194/149/170/118). The results indicate that the MPs’ self-reported social media activities and perceptions have remained remarkably constant since 2012. Regression analyses indicate that MPs’ self-reported social media activities and perceptions are hardly related to each other. This raises the question whether mediatization processes are indeed driven by politicians’ perceptions about media influences.
Background: Oral cancers (OC) are malignant lesions occurring in the oral cavity that include squamous cell carcinomas (SCC), salivary gland and odontogenic neoplasms. Even though it is the eighth most common malignancy globally but in Pakistan it is the second commonest type of cancer. Lack of awareness about ill-effects of preventable risk factors of oral cancer increases the burden of disease due to the associated high cost of treatment, permanent impairment and high mortality. Hence, awareness can be very helpful in prevention, control and early diagnosis of oral cancer.
Methods: A cross-sectional study was carried out among university students from Karachi, Pakistan during April to May 2018. Three hundred students were approached to participate in the study of which 277 agreed to participate. Pretested questionnaire was distributed and collected data was analysed using IBM SPSS version 23.
Results: There were 125 (45%) males and 152 (55%) females in the study and response rate was 94%. Sixty one percent (154/250) respondents correctly identified smoking, and tobacco chewing as possible causes of oral cancer. Almost one third (74%; 184/250) respondents correctly responded that oral cancer does not spread from person to person through touch or speaking. Sixty six percent (164/250) respondents believed that oral cancer is curable. Mean score of knowledge was higher in females (61%) than males (53%). Significantly higher number of females compared to male participants answered correctly to questions regarding cause of oral cancer, spread of disease and occurrence of oral cancer in AIDS patients.
Conclusions: Participants showed poor knowledge about oral cancer. Female participants showed better knowledge compared to male counterparts. Details about oral cancer should be incorporated in the university curriculum and periodic awareness programs should be organized for students.
Eine durch die Digitalisierung veränderte und auf Open Science ausgerichtete Wissenschaftspraxis benötigt angepasste Infrastrukturen und Services. Daraus ergeben sich verschiedene neue oder veränderte Aktionsfelder für wissenschaftliche Bibliotheken und Infrastruktureinrichtungen. Zu nennen sind zum Beispiel die nicht-textuellen Materialien wie Forschungsdaten, AV-Medien oder Software und die Umsetzung der FAIR-Prinzipien. Hinzu kommen neue Aufgaben im Bereich der Forschungsinformationen, zum Beispiel in der Unterstützung institutioneller Forschungsinformationssysteme, die Gestaltung von Open Access, die Unterstützung kollaborativen wissenschaftlichen Arbeitens sowie die Schaffung von offenen Infrastrukturen. In diesem Artikel werden diese Felder kurz vorgestellt und sich daraus abzeichnende Anforderungen an das bibliothekarische Berufsbild skizziert.
Die Digitalisierung der Geisteswissenschaften eröffnet Wissenschaftlerinnen und Wissenschaftlern unter anderem neue Möglichkeiten des kollaborativen Arbeitens, des offenen Publizierens oder der direkten und öffentlichkeitswirksamen Wissenskommunikation. Auch die Literaturrecherche als ein Grundpfeiler wissenschaftlichen Arbeitens erfährt schon seit Jahren einen stetigen Wandel. Bibliotheken befinden sich als Anbieter von Literatur, Medien und Rechercheinstrumenten in einem Spannungsfeld: Die Kerntätigkeitsbereiche der Erwerbung sowie der Vermittlung von Informationskompetenz unterliegen auch aufgrund der zunehmenden Digitalisierung veränderten Rahmenbedingungen, die meistens außerhalb der Reichweite der lokalen Bibliothek liegen. Diese Bedingungen beeinflussen sowohl die Tätigkeiten des Bibliothekspersonals als auch die Informationsversorgung der Bibliothekskundinnen und -kunden stark.
In diesem Artikel soll mit Bezug auf eine Universitätsbibliothek mittlerer Größe und mit Blick auf eine ihrer wichtigsten Zielgruppen, nämlich die der Studierenden, dargestellt werden, wie sich im Zuge der zunehmenden Digitalisierung Fragen der Erwerbungspolitik und unterschiedliche Wege der Literaturrecherche auf das wissenschaftliche Arbeiten auswirken. Ein besonderes
Augenmerk gilt dabei dem Bestandsaufbau im Fachreferat Germanistik im Gefüge der an der Universität zu versorgenden Fächer. An der Schnittstelle zu Forschung, Lehre und Studium sind es die Fachreferentinnen und Fachreferenten der Bibliothek, die sowohl die Rahmenbedingungen als auch die verschiedenen Möglichkeiten der Literaturrecherche proaktiv vermitteln müssen.
Background: Antimicrobial resistance has become a serious global problem. A potential post-antibiotic era is threatening present and future medical advances. In Pakistan, the usage of antibiotic is unnecessarily high and due to over exposure to these drugs, bacteria are developing resistance against these drugs. It is necessary to improve public awareness about the rational use of antibiotics in order to bring a change in consumer’s behaviour. Therefore, present study was undertaken to assess the existing knowledge, attitude and practices related to antibiotic usage among university students.
Methods: A cross-sectional study was carried out among university students from Karachi, Pakistan during May-June 2018. 200 students were approached to participate in the study of which 159 agreed to participate (males: 70, females: 89). Pretested questionnaire was distributed to the study subjects and the collected data was analyzed using IBM SPSS version 23.
Results: Substantial number of (33% and 50%) participants were unaware about the differences in antibiotic: anti-inflammatory drugs and antibiotic: antipyretics respectively. 29% of the participants thought it is right to stop antibiotics only based on symptomatic improvement. Thirty nine percent and eighty three percent participants believed that antibiotics should always be prescribed to treat flu like symptoms and pneumonia respectively.
Conclusions: Participants demonstrated average knowledge about antibiotics. Similarly, their attitude and practice toward antibiotic use was associated with misconceptions. An educational intervention is necessary to make them aware about rational use of antibiotics.
Background: Compromised immune function, associated with human immune deficiency virus (HIV) infection, is improved by antiretroviral therapy (ART) which also decreases bone mineral density (BMD), and possibly the quality of life (QoL). However, physical (aerobic/resistance) exercises, were reported to induce reverse effects in uninfected individuals and were appraised in the literature for evidence of similar benefits in people living with HIV/AIDS(PLWHA). The main study objective was to evaluate the impact of physical (aerobic and resistance) exercises on CD4+ count,
BMD and QoL in PLWHA.
Methods: A systematic review was conducted using the Cochrane Collaboration protocol. Searching databases, up to June 2017, only randomized control trials investigating the effects of either aerobic, resistance or a combination of both exercise types with a control/other intervention(s) for a period of at least 4 weeks among adults living with HIV, were included. Two independent reviewers determined the eligibility of the studies. Data were extracted and risk of bias (ROB) was assessed with the Cochrane Collaboration ROB tool. Meta-analyses were conducted using random effect models using the Review Manager (RevMan) computer software.
Results: Nineteen studies met inclusion criteria(n = 491 participants at study completion) comprising male and female with age range 22–66 years. Two meta-analyses across 13 sub-group comparisons were performed. However, there were no RCTs on the impact of physical exercises on BMD in PLWHA. The result showed no significant change in CD4+ count unlike a significant effect of 5.04 point (95%CI:-8.49,-3.74,p = 0.00001) for role activity limitation due to physical health (QoL sub-domain). Overall, the GRADE evidence for this review was of moderate quality.
Conclusions: There was evidence that engaging in moderate intensity aerobic exercises (55–85% Maximum heart rate-MHR), for 30–60 min, two to five times/week for 6–24 weeks significantly improves role activity limitation due to physical health problems, otherwise physical(aerobic or/and resistance) exercises have no significant effects on CD4+ count and other domains of QoL. Also, there is lack of evidence on the impact of exercises on BMD in PLWHA due to the paucity of RCTs. The moderate grade evidence for this review suggests that further research may likely have an important impact on our confidence in the estimate of effects and may change the estimate.
Background:
Promoting patient and occupational safety are two key challenges for hospitals. When aiming to improve these two outcomes synergistically, psychosocial working conditions, leadership by hospital management and supervisors, and perceptions of patient and occupational safety climate have to be considered. Recent studies have shown that these key topics are interrelated and form a critical foundation for promoting patient and occupational safety in hospitals. So far, these topics have mainly been studied independently from each other. The present study investigated hospital staffs’ perceptions of four different topics: (1) psychosocial working conditions, (2) leadership, (3) patient safety climate, and (4) occupational safety climate. We present results from a survey in two German university hospitals aiming to detect differences between nurses and physicians.
Methods:
We performed a cross-sectional study using a standardized paper-based questionnaire. The survey was conducted with nurses and physicians to assess the four topics. The instruments mainly consisted of scales of the German version of the COPSOQ (Copenhagen Psychosocial Questionnaire), one scale of the Copenhagen Burnout Inventory (CBI), scales to assess leadership and transformational leadership, scales to assess patient safety climate using the Hospital Survey on Patient Safety Culture (HSPSC), and analogous items to assess occupational safety climate.
Results:
A total of 995 completed questionnaires out of 2512 distributed questionnaires were returned anonymously. The overall response rate was 39.6%. The sample consisted of 381 physicians and 567 nurses. We found various differences with regard to the four topics. In most of the COPSOQ and the HSPSC-scales, physicians rated psychosocial working conditions and patient safety climate more positively than nurses. With regard to occupational safety, nurses
indicated higher occupational risks than physicians.
Conclusions:
The WorkSafeMed study combined the assessment of the four topics psychosocial working conditions, leadership, patient safety climate, and occupational safety climate in hospitals. Looking at the four topics provides an overview of where improvements in hospitals may be needed for nurses and physicians. Based on these results,
improvements in working conditions, patient safety climate, and occupational safety climate are required for health care professionals in German university hospitals – especially for nurses.