A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5Danijela Krgović
, Ana Blatnik
, Ante Burmas
, Andreja Zagorac
, Nadja Kokalj-Vokač
, 2014, izvirni znanstveni članek
Opis: Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture.
Case presentation: Here we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear.
Conclusion: The cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.
Ključne besede: deletion with inverted duplication of 5p, trisomy 5, cri-du-chat syndrome, cat-like cry, ear agenesis
Objavljeno: 28.06.2017; Ogledov: 134; Prenosov: 2
Celotno besedilo (1,07 MB)
Using movies to teach professionalism to medical studentsZalika Klemenc-Ketiš
, Janko Kersnik
, 2011, izvirni znanstveni članek
Opis: Background: Professionalism topics are usually not covered as a separate lesson within formal curriculum, but in subtler and less officially recognizededucational activities, which makes them difficult to teach and assess. Interactive methods (e.g. movies) could be efficient teaching methods but are rarely studied. The aims of this study were: 1) to test the relevance and usefulness of movies in teaching professionalism to fourth year medical students and, 2) to assess the impact of this teaching method on students' attitudes towards some professionalism topics.
Method: This was an education study with qualitative data analysis in a group of eleven fourth year medical students from the Medical School of University Maribor who attended an elective four month course on professionalism. There were 8 (66.7%) female students in the group. The mean age of the students was 21.9 +/- 0.9 years. The authors used students' written reports and oral presentations as the basisfor qualitative analysis using thematic codes.
Results: Students recognised the following dimensions in the movie: communication, empathy, doctors' personal interests and palliative care. It also made them think abouttheir attitudes towards their own life, death and dying.
Conclusion: The controlled environment of movies successfully enables students to explore their values, beliefs, and attitudes towards features of professionalism without feeling that their personal integrity had been threatened. Interactiveteaching methods could become an indispensible aid in teaching professionalism to new generations.
Ključne besede: teaching methods, movies, medical students
Objavljeno: 28.06.2017; Ogledov: 148; Prenosov: 2
Celotno besedilo (246,35 KB)
Regional coordinatorsDavorina Petek
, Polona Vidič Hudobivnik
, Viktorija Jančar
, Bojana Petek
, Zalika Klemenc-Ketiš
, 2016, izvirni znanstveni članek
Opis: Background: A new project on education in family medicine training was implemented last year in Slovenia by establishing regional coordinators in the specialist training programme. They are responsible for conducting regular small-group meetings with family medicine trainees. This study wanted to explore the attitudes and opinions of regional coordinators and family medicine trainees concerning this new method.
Methods: This was a qualitative study based on focus groups. The participants were regional coordinators and family medicine specialist trainees. The data were analysed based on the principles of thematic content analysis with inductive technique.
Results: The study revealed five themes which were the same for the analysis of transcripts of both regional coordinators and family medicine trainees: 1) Meetings with trainees; 2) Coordination; 3) Characteristics of regional coordinators; 4) Position of regional coordinators, and 5) Evaluation of regional coordinators.
Conclusion: Participants of the study have many expectations for this new programme. They expect progress in trainees' clinical knowledge through experience-based group learning and with the help of the tutorship role of regional coordinators. The role of regional coordinators represents a new possibility for solving problems in the training programme in their coordinating role. In future, they have the potential to develop into an expert body that supervises the quality of training. A close follow-up is necessary to see if the position of regional coordinators is adequate and if they meet the expectations of the trainees as well as their own goals. Administrative and financial support for the programme is necessary. The project is important also in enabling the adaptation of the training programme's needs and the regional characteristics of medical care.
Ključne besede: family practice, education, mentors
Objavljeno: 28.06.2017; Ogledov: 97; Prenosov: 4
Celotno besedilo (467,20 KB)
Viral respiratory infections in a nursing homeTina Uršič
, Nina Gorišek Miksić
, Lara Lusa
, Franc Strle
, Miroslav Petrovec
, 2016, izvirni znanstveni članek
Opis: Background: The knowledge on viral respiratory infections in nursing home (NH) residents and their caregivers is limited. The purpose of the present study was to assess and compare the incidence of acute respiratory infections (ARI) in nursing home (NH) residents and staff, to identify viruses involved in ARI and to correlate viral etiology with clinical manifestations of ARI.
Methods: The prospective surveillance study was accomplished in a medium-sized NH in Slovenia (central Europe). Ninety NH residents and 42 NH staff were included. Nasopharyngeal swabs were collected from all participants at enrollment (December 5th, 2011) and at the end of the study (May 31st, 2012), and from each participant that developed ARI within this timeframe. Molecular detection of 15 respiratory viruses in nasopharyngeal swab samples was performed.
Results: The weekly incidence rate of ARI in NH residents and NH staff correlated; however, it was higher in staff members than in residents (5.9 versus 3.8/1,000 person-days, P=0.03), and was 2.5 (95 % CI: 1.36-4.72) times greater in residents without dementia than in residents with dementia. Staff members typically presented with upper respiratory tract involvement, whereas in residents lower respiratory tract infections predominated. Respiratory viruses were detected in 55/100 ARI episodes. In residents, influenza A virus, respiratory syncytial virus, and human metapneumovirus were detected most commonly, whereas in NH staff rhinovirus and influenza A virus prevailed. 38/100 ARI episodes (30/56 in residents, 8/44 in staff) belonged to one of three outbreaks (caused by human metapneumovirus, influenza A virus and respiratory syncytial virus, respectively). NH residents had higher chances for virus positivity within outbreak than HN staff (OR=7.4, 95 % CI: 1.73-31.48, P<0.01).
Conclusions: ARI are common among NH residents and staff, and viruses were detected in a majority of the episodes of ARI. Many ARI episodes among NH residents were outbreak cases and could be considered preventable. Trial registration The study was registered on the 1th of December 2011 at ClinicalTrials (NCT01486160).
Ključne besede: respiratory infections, nursing home, residents nursing home
Objavljeno: 28.06.2017; Ogledov: 88; Prenosov: 4
Celotno besedilo (688,60 KB)
The safety attitudes questionnaire - ambulatory versionZalika Klemenc-Ketiš
, Matjaž Maletič
, Vesna Stropnik
, Ellen Tveter Deilkås
, Dag Hofoss
, Gunnar Tschudi Bondevik
, 2017, izvirni znanstveni članek
Opis: Background: Several tools have been developed to measure safety attitudes of health care providers, out of which the Safety Attitudes Questionnaire (SAQ) is regarded as one of the most appropriate ones. In 2007, it was adapted to outpatient (primary health care) settings and in 2014 it was tested in out-of-hours health care settings in Norway. The purpose of this study was to translate the English version of the SAQ-Ambulatory Version (SAQ-AV) to Slovenian language; to test its reliability; and to explore its factor structure.
Methods: This was a cross-sectional study that took place in Slovenian out-of-hours primary care clinics in March- May 2015 as a part of an international study entitled Patient Safety Culture in European Out-of-hours services. The questionnaire consisted of the Slovenian version of the SAQ-AV. The link to the questionnaire was emailed to health care workers in the out-of-hours clinics. A total of 438 participants were invited. We performed exploratory factor analysis.
Results: Out of 438 invited participants, 250 answered the questionnaire (response rate 57.1%). Exploratory factor analysis put forward five factors: 1) Perceptions of management, 2) Job satisfaction, 3) Safety climate, 4) Teamwork climate, and 5) Communication. Cronbach's alpha of the whole SAQ-AV was 0.922. Cronbach's alpha of the five factors ranged from 0.587 to 0.791. Mean total score of the SAQ-AV was 56.6 +- 16.0 points. The factor with the highest average score was Teamwork climate and the factor with the lowest average was Job satisfaction.
Conclusions: Based on the results in our study, we cannot state that the SAQ-AV is a reliable tool for measuring safety culture in the Slovenian out-of-hours care setting. Our study also showed that there might be other safety culture factors in out-of-hours care not recognised before. We therefore recommend larger studies aiming to identify an alternative factor structure.
Ključne besede: patient safety, quality assurance, health care
Objavljeno: 28.06.2017; Ogledov: 152; Prenosov: 13
Celotno besedilo (515,91 KB)
Relationship between genome and epigenome - challenges and requirements for future researchGeneviève Almouzni
, Neža Grgurevič
, Gregor Majdič
, Uroš Potočnik
, Janez Ilaš
, 2014, kratki znanstveni prispevek
Opis: Understanding the links between genetic, epigenetic and non-genetic factors throughout the lifespan and across generations and their role in disease susceptibility and disease progression offer entirely new avenues and solutions to major problems in our society. To overcome the numerous challenges, we have come up with nine major conclusions to set the vision for future policies and research agendas at the European level.
Ključne besede: genome, epigenome, microbiome, environment
Objavljeno: 28.06.2017; Ogledov: 69; Prenosov: 2
Celotno besedilo (482,56 KB)
Which positive factors determine the GP satisfaction in clinical practice?Bernard Le Floch
, Hilde Bastiaens
, Jean-Yves Le Reste
, H. Lingner
, Robert Hoffman
, Sĺawomir Czachowski
, Radost Spiridonova Assenova
, Tuomas Koskela
, Zalika Klemenc-Ketiš
, P. Nabbe
, A. Sowinska
, T. Montier
, Lieve Peremans
, 2016, pregledni znanstveni članek
Opis: Background: Looking at what makes General Practitioners (GPs) happy in their profession, may be important in increasing the GP workforce in the future. The European General Practice Research Network (EGPRN) created a research team (eight national groups) in order to clarify the factors involved in GP job satisfaction throughout Europe. The first step of this study was a literature review to explore how the satisfaction of GPs had been studied before. The research question was "Which factors are related to GP satisfaction in Clinical Practice?"
Methods: Systematic literature review according to the PRISMA statement. The databases searched were Pubmed, Embase and Cochrane. All articles were identified, screened and included by two separate research teams, according to inclusion or exclusion criteria. Then, a qualitative appraisal was undertaken. Next, a thematic analysis process was undertaken to capture any issue relevant to the research question.
Results: The number of records screened was 458. One hundred four were eligible. Finally, 17 articles were included. The data revealed 13 subthemes, which were grouped into three major themes for GP satisfaction. First there were general profession-related themes, applicable to many professions. A second group of issues related specifically to a GP setting. Finally, a third group was related to professional life and personal issues.
Conclusions: A number of factors leading to GP job satisfaction, exist in literature They should be used by policy makers within Europe to increase the GP workforce. The research team needs to undertake qualitative studies to confirm or enhance those results.
Ključne besede: family medicine, primary health care, career
Objavljeno: 28.06.2017; Ogledov: 78; Prenosov: 3
Celotno besedilo (429,53 KB)
Process quality indicators in family medicineDanica Rotar-Pavlič
, Maja Sever
, Zalika Klemenc-Ketiš
, Igor Švab
, 2015, izvirni znanstveni članek
Opis: Background: The aim of our study was to describe variability in process quality in family medicine among 31 European countries plus Australia, New Zealand, and Canada. The quality of family medicine was measured in terms of continuity, coordination, community orientation, and comprehensiveness of care.
Methods: The QUALICOPC study (Quality and Costs of Primary Care in Europe) was carried out among family physicians in 31 European countries (the EU 27 except for France, plus Macedonia, Iceland, Norway, Switzerland, and Turkey) and three non-European countries (Australia, Canada, and New Zealand). We used random sampling when national registers of practitioners were available. Regional registers or lists of facilities were used for some countries. A standardized questionnaire was distributed to the physicians, resulting in a sample of 6734 participants. Data collection took place between October 2011 and December 2013. Based on completed questionnaires, a three-dimensional framework was established to measure continuity, coordination, community orientation, and comprehensiveness of care. Multilevel linear regression analysis was performed to evaluate the variation of quality attributable to the family physician level and the country level.
Results: None of the 34 countries in this study consistently scored the best or worst in all categories. Continuity of care was perceived by family physicians as the most important dimension of quality. Some components of comprehensiveness of care, including medical technical procedures, preventive care and health care promotion, varied substantially between countries. Coordination of care was identified as the weakest part of quality. We found that physician-level characteristics contributed to the majority of variation.
Conclusions: A comparison of process quality indicators in family medicine revealed similarities and differences within and between countries. The researchers found that the major proportion of variation can be explained by physicians' characteristics.
Ključne besede: family physician, process quality, comparison
Objavljeno: 28.06.2017; Ogledov: 58; Prenosov: 2
Celotno besedilo (697,85 KB)
Biomedical question answering using semantic relationsDimitar Hristovski
, Dejan Dinevski
, Andrej Kastrin
, Thomas Rindflesch
, 2015, izvirni znanstveni članek
Opis: Background: The proliferation of the scientific literature in the field of biomedicine makes it difficult to keep abreast of current knowledge, even for domain experts. While general Web search engines and specialized information retrieval (IR) systems have made important strides in recent decades, the problem of accurate knowledge extraction from the biomedical literature is far from solved. Classical IR systems usually return a list of documents that have to be read by the user to extract relevant information. This tedious and time-consuming work can be lessened with automatic Question Answering (QA) systems, which aim to provide users with direct and precise answers to their questions. In this work we propose a novel methodology for QA based on semantic relations extracted from the biomedical literature.
Results: We extracted semantic relations with the SemRep natural language processing system from 122,421,765 sentences, which came from 21,014,382 MEDLINE citations (i.e., the complete MEDLINE distribution up to the end of 2012). A total of 58,879,300 semantic relation instances were extracted and organized in a relational database. The QA process is implemented as a search in this database, which is accessed through a Web-based application, called SemBT (available at http://sembt.mf.uni-lj.si). We conducted an extensive evaluation of the proposed methodology in order to estimate the accuracy of extracting a particular semantic relation from a particular sentence. Evaluation was performed by 80 domain experts. In total 7,510 semantic relation instances belonging to 2,675 distinct relations were evaluated 12,083 times. The instances were evaluated as correct 8,228 times (68%).
Conclusions: In this work we propose an innovative methodology for biomedical QA. The system is implemented as a Web-based application that is able to provide precise answers to a wide range of questions. A typical question is answered within a few seconds. The tool has some extensions that make it especially useful for interpretation of DNA microarray results.
Ključne besede: semantic relations, biomedical question
Objavljeno: 28.06.2017; Ogledov: 77; Prenosov: 3
Celotno besedilo (2,76 MB)
Survival of node-negative breast cancer patients treated at the University Medical Centre Maribor in the period 2000-2009Nina Fokter Dovnik
, Darja Arko
, Nina Čas-Sikošek
, Iztok Takač
, 2017, izvirni znanstveni članek
Opis: Introduction: Breast cancer is increasingly diagnosed in the early stages without regional nodal involvement. The aim of the present study was to determine the 5-year overall (OS) and breast cancer specific survival (BCSS) for patients with node-negative breast cancer treated at the University Medical Centre Maribor, and compare it with survival at the national level.
Methods: Medical records were searched for information on patients with lymph node-negative invasive breast cancer who received primary treatment at the University Medical Centre Maribor in the period 2000–2009. Information on all Slovenian node-negative breast cancer patients diagnosed in the same period was obtained from the Cancer Registry of Republic of Slovenia. Time trends in survival were assessed by comparing the periods 2000–2004 and 2005–2009.
Results: The 5-year OS and BCSS of patients treated in Maribor in the period 2000–2009 were 92.3% (95% CI, 90.5%– 94.1%) and 96.4% (95% CI, 95.2%–97.6%), respectively, and did not differ from the corresponding OS and BCSS for Slovenian patients. Although the improvement in OS for patients from Maribor diagnosed in the period 2005–2009 compared to 2000–2004 did not reach statistical significance (HR 0.73; 95% CI, 0.51–1.05; p=0.086), BCSS significantly improved over the same time periods (HR 0.53; 95% CI, 0.30–0.94; p=0.028).
Conclusions: Survival of node-negative breast cancer patients treated at the University Medical Centre Maribor is comparable to survival of corresponding patients at the national level. The rising number of long-term breast cancer survivors places additional importance on survivorship care.
Ključne besede: breast cancer, survival, time trends, regional differences, Slovenia
Objavljeno: 26.06.2017; Ogledov: 125; Prenosov: 5
Celotno besedilo (854,97 KB)