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Background:
Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data.
Methods:
The source of data was a sample of the Institute for Applied Health Research Berlin (InGef) Research Database, comprising data of approximately four million insured persons from approximately 70 German statutory health insurances. The study was conducted in a retrospective cross-sectional design using 2015 and 2016 as a two-year observation period. At least two outpatient or inpatient ICD-10 codes for HD (ICD-10: G10) during the study period were required for case identification. Patients were considered incident if no HD diagnoses in the 4 years prior to the year of case identification were documented. Information on outpatient drug dispensations, medical aids and remedies were considered to describe the current treatment situation of HD patients.
Results:
A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.4–2.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.3–10.4) was observed. The prevalence of HD increased with advancing age, peaking at 60–69 years (16.8 per 100,000 persons; 95%-CI: 13.4–21.0) and decreasing afterwards.
The most frequently observed comorbidities and disease-associated symptoms in HD patients were depression (42.9%), dementia (37.7%), urinary incontinence (32.5%), extrapyramidal and movement disorders (30.5%), dysphagia (28.6%) and disorders of the lipoprotein metabolism (28.2%).
The most common medications in HD patients were antipsychotics (66.9%), followed by antidepressants (45.1%). Anticonvulsants (16.6%), opioids (14.6%) and hypnotics (9.7%) were observed less frequently.
Physical therapy was the most often used medical aid in HD patients (46.4%). Nursing services and speech therapy were used by 27.9 and 22.7% of HD patients, respectively, whereas use of psychotherapy was rare (3.2%).
Conclusions:
Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research.
Das Thema Elektromagnetische Verträglichkeit (EMV) ist noch immer ein wesentlicher Aspekt bei der Planung, bei der Installation und beim Betrieb von Automatisierungssystemen. Kommunikationsnetzwerke wie zum Beispiel PROFIBUS und PROFINET sind als robuste und zuverlässige Übertragungssysteme bekannt. Dennoch ist für deren Funktion die Beachtung einiger grundlegender Prinzipien wichtig, um einen störungsfreien Betrieb über ein langes Anlagenleben zu gewährleisten. Der Beitrag beschreibt zunächst einige Grundlagen der EMV. Basierend auf diesen Grundlagen werden dann sechs Handlungsempfehlungen abgeleitet, die bei der Planung eines Automatisierungssystems für den Einsatz in der Fertigungsindustrie zu beachten sind. Abschließend wird ein Ausblick auf die weiterführenden Arbeiten für Anlagen der Prozessindustrie gegeben.
The topic of electromagnetic compatibility (EMC) remains an important aspect during the planning, installation and operation of automation systems. Communication networks, such as PROFIBUS and PROFINET, are known to be robust and reliable transmission systems. Nevertheless, it is important that a number of fundamental principles needs to be observed to ensure fault-free operation over a long plant lifetime. This paper first describes a number of principles of EMC. On the basis of these principles, six recommendations for action are then developed which are to be observed during the planning of an automation system for use in the manufacturing industry. Finally, an overview is provided of future work for systems in the process industry.
Research into new forms of care for complex chronic diseases requires substantial efforts in the collection, storage, and analysis of medical data. Additionally, providing practical support for those who coordinate the actual care management process within a diversified network of regional service providers is also necessary. For instance, for stroke units, rehabilitation partners, ambulatory actors, as well as health insurance funds. In this paper, we propose the concept of comprehensive and practical receiver-oriented encryption (ROE) as a guiding principle for such data-intensive, research-oriented case management systems, and
illustrate our concept with the example of the IT infrastructure of the project STROKE OWL.
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: 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.
Background: India has the third largest HIV epidemic in the world. The Indian epidemic is characterized by low levels in the general population and elevated concentrations among high-risk groups. The present study was planned to determine the awareness of HIV among students from Mumbai University.
Methods: A cross-sectional study was carried out among students from Mumbai University, India during May–June 2017. Two hundred and fifty students were approached to participate in the study of which 199 agreed to participate (males: 132; females: 67). Pretested questionnaire was distributed and collected data was analyzed using IBM SPSS version 23.
Results: Study participants had high knowledge (86%) and attitude score (87%). There was no significant difference between males and female participants for attitude and knowledge, except for one question regarding knowledge about HIV transmission via breastfeeding to child.
Conclusions: Present study showed that there are no misconceptions or negative attitudes regarding HIV among students. A longitudinal study with a larger sample size across India is recommended for further investigation.
Background:
In order to prevent child abuse, instruments measuring child abuse potential (CAP) need to be appropriate, reliable and valid.
Objective:
This study aimed to confirm the 6-factor structure of the Brief Child Abuse Potential Inventory (BCAPI) in a German sample of mothers and fathers, and to examine longitudinal predictors of CAP.
Participants and setting:
Two waves of data were collected from 197 mothers and 191 fathers of children aged 10–21 months for the “Kinder in Deutschland–KiD 0–3” in-depth study. Families were stratified based on prior self-report data for screening purposes.
Methods:
138 fathers and 147 mothers were included in the analysis (invalid: 25% mothers, 30% fathers). First, validity of reporting was examined. Second, confirmatory factor analysis (CFA) was employed to assess factor structure. Third, internal reliability and criterion validity were examined. Finally, multivariate poisson regressions investigated longitudinal predictors of CAP in mothers.
Results:
A previously established six-factor structure was confirmed for mothers but not fathers. CFA failed for fathers due to large numbers of variables with zero variance. For mothers, internal consistency and criterion validity were good. BCAPI score at follow-up was associated with baseline BCAPI score (β= 00.08), stress (β= 0.06), education (β=-0.19) and alcohol use(β= .58).
Conclusions:
Findings confirm the six-factor structure of the BCAPI among German mothers. The clinical use of the BCAPI in fathers is not recommended as it might produce data that are hard to interpret. Further research with fathers is needed to establish if this is due to limitations with this dataset or with the questionnaire.
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.