https://www.um.edu.mt/library/oar/handle/123456789/63270 Mon, 13 Apr 2026 11:54:16 GMT 2026-04-13T11:54:16Z https://www.um.edu.mt/library/oar/handle/123456789/107191 Title: Classification of von Willebrand disease in Maltese patients Abstract: Von Willebrand factor (vWF) plays a key role in platelet adhesion, thrombus formation and coagulation, the latter as carrier protein for factor VIII(F VIII). VWF deficiencies lead to von Willebrand Disease(vWD), the most common congenital bleeding disorder. Approximately 125 individuals per million population have symptomatic vWD, and this is roughly twice the prevalence of hemophilia A. Asymptomatic inherited defects in von Willebrand factor(VWF) function are extremely common and are detectable in nearly 1 % of unselected persons. In a survey of European patients, the prevalence of treated vWD varied from 4.5 to 24 per million. Preliminary results of an international survey of vWD indicate that about 3% of treated patients have seroconversion to human immunodeficiency virus, 50% of whom have symptoms. Recent progress in the characterization of mutations that cause vWD has provided the necessary stimulus to re-address the issue of how vWD is classified. In response to this situation, in July 1993, the subcommitee on vWF of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis proposed a simplified phenotypic classification of van Willebrand disease based on differences in pathophysiology. The revised classification basically distinguishes partial quantitative (type 1), qualitative (type 2) and total quantitative (type 3) deficiency of vWF. A goal for the new classification is to maximize the correlation of subtypes with treatment choices as it depends on the accurate diagnosis and classification of vWD in the patient. Specific aims: Tu try to identify all Maltese patients suffering from von Willebrand Disease by inviting all family members of all known cases of vWD patients to participate in the study. To perform two new assays which were never performed locally to help in the routine assay panel used to classifying Maltese patients in the recent revised classification. This is important as there are many treatment choices depending on the accurate diagnosis and classification of vWD in the patient for a successful patient management. Finally, genetic counselling for all the extended family for a better understanding of their bleeding condition. Description: B.SC.(HONS)MED.LAB.SCI. Mon, 01 Jan 1996 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/107191 1996-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/77467 Title: Investigations on the gene for human antithrombin III Abstract: Antithrombin III is a protein synthesised mainly in the liver. Its function is to support the fluidity of the blood through the inhibition of a number of serine proteases involved in the blood coagulation cascade. It does this by means of two active sites present in its molecule, the heparin binding site and the serine proteases binding site. Human liver mRNA was subjected to in-vitro translation using rabbit reticulocyte lysate. When the product was immunoprecipitated with antithrombin III antibody, a band was observed where antithrombin III was expected to migrate. From the same mRNA, cDNA was synthesised. This cDNA was subjected to the polymerase chain reaction utilising oligonucleotide probes flanking the known antithrombin III gene. The PCR products were cloned in M13 and pKK223-3 vectors and sequenced. The nucleic acid sequences were then compared with the sequences of the cloning vectors, antithrombin III and database. No significant homologies were however observed. The PCR products did not hybridise with the single stranded DNA containing the vector and PCR product. There are two possible conclusions; either something might have gone wrong from the moment the PCR product was subjected to Klenow enzyme, cleaned and cloned in M13 or the primers used in the polymerase chain reaction could have annealed to an unknown gene. Description: M.PHIL. Wed, 01 Jan 1992 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/77467 1992-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/54095 Title: Antiendomysial antibodies in coeliac enteropathy and other autoimmune diseases. Abstract: Patients with coeliac disease are characterized by the presence of elevated serum levels of antibodies to both gliadin (AGA) and endomysium (EmA), with EmA screening having a higher sensitivity. The EmA test is an indirect immunoflourescence technique using umbilical tissue as substrate tissue. In this study, 222 patients were screened for antiendomysial antibodies, 85 of which were first tested for AGA, 11 for double-stranded DNA, 75 for rheumatoid factor, 31 for anticardiolipin antibodies and 20 for autoantibody screening. The results show that the EmA test is very sensitive but less specific for coeliac disease. Description: B.SC.(HONS)MED.LAB.SCI. Wed, 01 Jan 1997 00:00:00 GMT https://www.um.edu.mt/library/oar/handle/123456789/54095 1997-01-01T00:00:00Z