1,873 research outputs found

    Screening extended families for genetic hemoglobin disorders in Pakistan

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    A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

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    OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services

    Μελέτη και καταγραφή των μεθόδων ιατρικής συμμόρφωσης και στατιστική ανάλυση του επιπέδου συμμόρφωσης των ασθενών μέσω mobile εφαρμογών

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    149 σ.Η παρούσα διπλωματική έχει ως στόχο να παρουσιάσει αρχικά την έννοια της "κινητής" υγείας (mobile health), καθώς και βασικές έννοιες και τεχνολογίες που συνδέονται με αυτήν. Θα αναλυθεί η σχέση της με τη βελτίωση της ποιότητας της υγείας και ειδικότερα με τη φαρμακευτική συμμόρφωση των ασθενών μέσω εφαρμογών (mobile applications) που έχουν αναπτυχθεί για έξυπνα τηλέφωνα (smartphones). Θα γίνει μια εκτενής αναφορά σε προγράμματα mHealth που έχουν πραγματοποιηθεί σε χώρες του αναπτυσσόμενου κόσμου, εστιάζοντας στα τεχνολογικά μέσα με τα οποία υλοποιήθηκαν όπως επίσης και στο σκοπό για τον οποίο έγιναν και στα αποτελέσματα που επέφερε η εφαρμογή τους. Πέρα από αυτές τις αναφορές, θα δοθεί ιδιαίτερη βαρύτητα στην έννοια της φαρμακευτικής συμμόρφωσης και τις παραμέτρους που σχετίζονται με αυτήν. Θα πραγματοποιηθεί μελέτη των σχετικών εφαρμογών για κινητά και λεπτομερής στατιστική ανάλυση των χαρακτηριστικών και των αποτελεσμάτων τους. Θα αξιολογηθούν οι εφαρμογές αυτές ως προς το επίπεδο συμμόρφωσης που κρίνεται ότι προσφέρουν ώστε να αναδυθούν οι καλύτερες και επικρατέστερες εφαρμογές και θα συγκριθούν μεταξύ τους ενδελεχώς προκειμένου να καταγραφούν τα πλεονεκτήματα και οι ελλείψεις που έχουν.The present thesis aims at first to present the meaning of mobile health, as well as the principles and the technologies which are related with it. We analyze mobile health's relation with the enhancement of the quality health level and especially with the patients' medication adherence through mobile applications for smartphones. We make an extensive report to mHealth projects which have been made in developing countries and we focus on the technological means which were used for it, as well as on the purpose for which the projects were made and on their outcome. Apart from these reports, we pay great attention to the meaning of medication adherence and its related parametres. We study relative mobile applications and we make a detailed statistical analysis of their characteristics and results. We rate these apps according to their offered compliance level, in order to present the best and most well-known apps. We compare the apps with each other in order to record their advantages and their lack of functionality which they probably have.Πέτρου Μαρί
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