Sökning: "haemophilia"

Visar resultat 1 - 5 av 20 avhandlingar innehållade ordet haemophilia.

1. 1. Register-based studies to assess long-term outcome in haemophilia

   Författare :Mehdi Osooli; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Registers; Haemophilia; Carriers of haemophilia; Long-term outcomes; Joint surgery; Survival; Longitudinal Studies;

   Sammanfattning : IntroductionHaemophilia is a X-linked bleeding disorder affecting mostly males. Women are mainly carriers ofhaemophilia, however, they can expereince high bleeding tendency and assocaited symptoms aswith males. In the absence of the appropriate treatment, bleedings, especially into the joints, result inadverse outcomes. LÄS MER

3. 2. Health-Related Quality of Life and Adherence in Haemophilia

   Författare :Karin Lindvall; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haemophilia; Adherence; Health-Related Quality of Life; Inhibitor; Patient; Partner; Caregive;

   Sammanfattning : Assessment of health-related quality of life (HRQoL) in haemophilia is important in order to provide information for clinical decision making and to verify the impact of haemophilia on patients and their families. Advances in haemophilia care and prophylactic treatment have improved HRQoL for the patients and where treatment is available, patients with haemophilia have almost reached the same life expectancy as the general population . LÄS MER

4. 3. Haemophilia in Sweden – Studies on mutations and clinical implications

   Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

   Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

5. 4. Prenatal Diagnosis of Haemophilia - psychological, social and ethical aspects

   Författare :Ulf Tedgård; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; reproduction; sense of coherence; risk factors; psychological reactions; genetic counselling; chorionic villus sampling; fetal blood sampling; fetoscopy; Haemophilia; prenatal diagnosis; therapeutic abortion; follow-up study; Pediatrics; Pediatri;

   Sammanfattning : The general aim of this study has been to study the psychological, social and ethical aspects for carriers of haemophilia and their spouses, related to the development of techniques for carrier testing and for prenatal diagnosis (PD) of haemophilia. This was investigated by a semi-structured follow-up interview with 29 carriers of haemophilia with experience of PD by fetal blood sampling (FBS), and with 29 carriers (and 23 spouses) with experience of PD by chorionic villus sampling (CVS). LÄS MER

7. 5. Haemophilia B - Diagnostic Insights, Genetic Aspects and Clinical Outcomes

   Författare :Kristina Kihlberg; Institutionen för translationell medicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Coagulation factor IX; Haemophilia B; Haemophilia A; F9 variant; Assay discrepancy; Chromogenic assay; One-stage assay; Bleeding disorders; Quality of life; Immune tolerance induction; Non-neutralising antibodies; Inhibitors; Treatment Adherence; Arthropathy;

   Sammanfattning : Haemophilia B (HB) is a rare inherited bleeding disorder caused by the deficiency of coagulation factor IX (FIX). The major clinical issues are bleedings, often targeting the joints, and the development of neutralising antibodies, i.e. inhibitors, to the FIX replacement therapy. LÄS MER