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Significant bradycardia due to person suffering from diabetes ketoacidosis.
Background The aim of the German Medical Informatics Initiative is to establish a national infrastructure for integrating and sharing health data. To this, Data Integration Centers are set up at university medical centers, which address data harmonization, information security and data protection. To capture patient consent, a common informed consent template has been developed. It consists of different modules addressing permissions for using data and biosamples. On the technical level, a common digital representation of information from signed consent templates is needed. As the partners in the initiative are free to adopt different solutions for managing consent information (e.g. IHE BPPC or HL7 FHIR Consent Resources), we had to develop an interoperability layer. Methods First, we compiled an overview of data items required to reflect the information from the MII consent template as well as patient preferences and derived permissions. Next, we created entity-relationship diagrams to formally describe the lusions The proposed digital representation is (1) generic enough to capture relevant information from a wide range of consent documents and data use regulations and (2) interoperable with common technical standards. Selleck Ionomycin We plan to extend our model to include more fine-grained status codes and rules for automated access control.Background The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes. Case presentation Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin rashes, features of autoimmunity and atopy. However, platelets were initially reported as normal in numbers and morphology as were baseline immune investigations. An older male sibling had died in infancy from suspected immunodeficiency. Uncertainty of diagnosis and suspected severe PIDD prompted urgent further molecular investigation. Whole exome sequencing identified c. 397 G > A as a novel hemizygous missense mutation located in exon 4 of WAS. Conclusion With definitive molecular diagnosis, we could target treatment and offer genetic counselling and prenatal diagnostic testing to the family. The identification of novel variants is important to confirm phenotype variations of a syndrome.Background Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. Most research has focused on common genetic variants which differ across populations and hence do not fully account for HbF variation. Methods We investigated rare and common genetic variants that influence HbF levels in 14 SCD patients to elucidate variants and pathways in SCD patients with extreme HbF levels (≥7.7% for high HbF) and (≤2.5% for low HbF) in Tanzania. We performed targeted next generation sequencing (Illumina_Miseq) covering exonic and other significant fetal hemoglobin-associated loci, including BCL11A, MYB, HOXA9, HBB, HBG1, HBG2, CHD4, KLF1, MBD3, ZBTB7A and PGLYRP1. Results Results revealed a range of genetic variants, including bi-allelic and multi-allelic SNPs, frameshift insertions and deletions, some of which have functional importance. Notably, there were significantly more deletions in individuals with high HbF levels (11% vs 0.9%). We identified frameshift deletions in individuals with high HbF levels and frameshift insertions in individuals with low HbF. CHD4 and MBD3 genes, interacting in the same sub-network, were identified to have a significant number of pathogenic or non-synonymous mutations in individuals with low HbF levels, suggesting an important role of epigenetic pathways in the regulation of HbF synthesis. Conclusions This study provides new insights in selecting essential variants and identifying potential biological pathways associated with extreme HbF levels in SCD interrogating multiple genomic variants associated with HbF in SCD.Background The European region achieved interruption of malaria transmission during the 1970s. Since then, malaria control programs were replaced by surveillance systems in order to prevent possible re-emergence of this disease. Sporadic cases of non-imported malaria were recorded in several European countries in the past decade and locally transmitted outbreaks of Plasmodium vivax, most probably supported by Anopheles sacharovi, have been repeatedly reported from Greece since 2009. The possibility of locally-transmitted malaria has been extensively studied in Italy where the former malaria vector An. labranchiae survived the control campaign which led to malaria elimination. In this study, we present paradigmatic cases that occurred during a 2017 unusual cluster, which caused strong concern in public opinion and were carefully investigated after the implementation of the updated malaria surveillance system. Methods For suspected locally-transmitted malaria cases, alerts to Ministry of Health (MoH) and the Naws that the locally acquired events are sporadic, often remain unresolved and classified as cryptic ones despite investigative efforts. The "cluster" of seven non-imported cases that occurred in 2017 in different regions of Italy therefore represents a conscious alert that should lead us to maintain a constant level of surveillance in a former malaria endemic country.Background Little is known about how to build leadership capacity to support implementation of evidence-based practices within health systems. We observed substantial variability across sites in uptake and sustainability of a peer-led educational outreach intervention for lay health workers (LHWs) providing tuberculosis care in Malawi. Feedback from peer-trainers (PTs) suggested that leadership may have contributed to the variation. We sought to assess the impact of PT leadership style on implementation, and to identify leadership traits of more successful PTs, to inform future implementation planning and to identify targets for leadership capacity building. Methods Qualitative study employing interviews with PTs and LHWs at high and low implementation sites, and review of study team and quarterly PT meeting notes. High implementation sites achieved high uptake, sustainability and fidelity of implementation including close adherence to training content and process, high levels of coverage (training most or allopment and evaluation of a leadership capacity building intervention for unit level leaders to support implementation.Background High-quality information is essential if clients who request an abortion are to reach informed decisions and feel prepared for the procedure, but little is known concerning the readability of web-based sources containing such material. The aim was to investigate the readability of web-based information about induced abortion. Methods The search engine Google was used to identify web pages about induced abortion, written in the English language. A total of 240 hits were screened and 236 web pages fulfilled the inclusion criteria. After correcting for duplicate hits, 185 web pages were included. The readability of the text-based content of each web page was determined with Flesch Kincaid Grade Level, Gunning Fog Index, Coleman-Liau Index, Simple Measure of Gobbledygook, and Flesch Reading Ease. Data were analyzed with descriptive statistics, Pearson's correlation coefficient and Kruskal-Wallis with Dunn's test as post hoc analysis. Results Across all grade level measures, a small minority of the web pages had a readability corresponding to elementary school (n 153, 65%). The means of the grade level measures ranged between 10.5 and 13.1, and the mean Flesch Reading Ease score was 45.3 (SD 13.6). Only weak correlations (rho less then 0.2) were found between the readability measures and search rank in the hit lists. Consistently, web pages affiliated with health care had the least difficult readability and those affiliated with scientific sources had the most difficult readability. Conclusions Overall, web-based information about induced abortions has difficult readability. Incentives are needed to improve the readability of these texts and ensure that clients encounter understandable information so that they may reach informed decisions and feel adequately prepared when requesting an abortion.Background The French healthcare system is evolving to meet the challenges of an aging population, the growing prevalence of chronic diseases, the development of new technologies and the increasing involvement of patients in the management of their disease. The aim of this study is to assess the satisfaction and priorities of chronic patients regarding medical care, information and services and their quality of life. Methods A cross-sectional study was conducted from February to March 2018 via the French Carenity platform. Adult patients enrolled in type 1 diabetes, heart failure or obesity communities were invited to answer an online questionnaire. A numeric scale from 0 (meaning not satisfied) to 5 was used to evaluate patients' satisfaction. Patients' priorities were assessed using a ranking question. Patients' satisfaction and priorities have been combined in a matrix to identify patients' expectations. Results Sixty-seven respondents of each condition answered a questionnaire. The most important and least satisfactory items about medical care are availability and active listening from healthcare providers, as well as access to coordinated and multidisciplinary care. Regarding information and services, respondents mostly expect connected medical devices, in addition to lifestyle and dietary measures. As for the quality of life, respondents fear that their chronic condition will keep impacting their daily mood and ability to do physical activities. Conclusions This study shows that chronic patients want to be more actively involved in their care pathway. Patient training and therapeutic patient education programs could help them manage their chronic conditions within a patient-centred healthcare system.Background Due to an increasingly elderly population, a higher incidence of chronic diseases and higher expectations regarding public service provision, healthcare services are under increasing strain to cut costs while maintaining quality. The importance of promoting systems of co-produced health between stakeholders has gained considerable traction both in the literature and in public sector policy debates. This study provides a comprehensive map of the extant literature and identifies the main themes and future research needs. Methods A quantitative bibliometric analysis was carried out consisting of a performance analysis, science mapping, and a scientific collaboration analysis. Web of Science (WoS) was chosen to extract the dataset; the search was refined by language, i.e. English, and type of publication, i.e. journal academic articles and reviews. No time limitation was selected. Results The dataset is made up of 295 papers ranging from 1994 to May 2019. The analysis highlighted an annual percentage growth rate in the topic of co-production of about 25%.
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