https://www.um.edu.mt/library/oar/handle/123456789/40425 2026-04-05T07:55:56Z https://www.um.edu.mt/library/oar/handle/123456789/120577 Title: Identifying genetic factors underlying osteoporosis and fragility fractures in Malta Abstract: Osteoporosis is a complex metabolic bone disease with a strong genetic background. Family-based studies have identified significant candidate genes implicated in bone pathophysiology. A two-generation Maltese family with primary osteoporosis at the spine or hip was recruited, with the aim of identifying known or novel genes and gene variants contributing to osteoporosis pathogenesis. A total of fifteen relatives were recruited with ages ranging from 28 to 74 years. Whole genome sequencing was performed on twelve relatives and a number of filtering schemes together with in silico modelling were applied to narrow down the list of potentially causal variants. Five missense variants segregating in a dominant inheritance pattern were shortlisted, all of which had an alternative allele frequency of ≤1% in the 1000Genome project. The variants identified were ADAMTS20 Tyr1364Asn (rs138035327), BMP1 Arg727Gln (rs368615556), SELP Tyr726Cys (rs754086574), TGF-β2 Pro379Leu (rs773943154) and TRIM45 Ser339Pro (rs146244405). Replication of ADAMTS20 Tyr1364Asn and TGF-β2 Pro379Leu variants in a case-control collection of 1045 Maltese postmenopausal women was performed to determine association with bone mineral density (BMD), fracture risk and other bone-related phenotypes. Heterozygosity for the ADAMTS20 Tyr1364Asn variant was associated with an increased risk of low total serum calcium levels compared to the homozygosity for the reference allele. Although heterozygosity for the TGF-β2 Pro379Leu variant was higher in research subjects with a low BMD and fracture history, numbers were too small to infer any statistical association. In conclusion, results suggest that identified variants, alone or in combination, could be disease-causing in the family, and possibly at the population level, requiring replication across larger collections. ADAMTS20 encodes a protease enzyme that cleaves aggrecan, required for cartilage and bone formation. TGF-β2 plays a role in bone remodelling by stimulating matrix protein synthesis. The two genes indirectly interact via the TGF-β pathway. Functional follow-up of the variants is warranted to determine their effect on bone physiology, particularly BMD and calcium homeostasis. Description: M.Sc.(Melit.) 2018-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/70319 Title: The effects of breathing retraining on dyspnoea measures and the six minute walking distance in patients with interstitial lung diseases Abstract: One of the most common symptoms experienced in patients with a diagnosis of interstitial lung disease (ILD) is shortness of breath which greatly affects their abilities to carry out activities of daily living. As most studies show, breathing retraining is said to lead to improvements in dyspnoea and walking distance in chronic obstructive pulmonary disease (COPD) patients. Evidence regarding the effects of such an intervention on reducing dyspnoea in ILD patients is lacking. In view of this, the aims of such a study were to identify whether breathing retraining led to better management of dyspnoea in ILD patients which in turn could help lead to less use of medical services to help manage their dyspnoea levels. Twenty Seven ILD patients were randomly distributed to either the control group (n=15) which received a 12week PR programme without breathing retraining or the active group (n=12) which received a 12week PR programme with breathing retraining. All patients had both their exercise tolerance using the 6-minute walk test and their level of breathlessness assessed at baseline and at 4 weekly intervals for a 12week period throughout the programme. Results from such a study show that a 12week PR programme with breathing retraining resulted in improved dyspnoea scores at rest, measures which increased for the control group and higher percentage changes for dyspnoea scores on exertion, and the 6MWD in the active group. As a conclusion, breathing retraining in a group of ILD patients resulted in clinically significant improvements in both dyspnoea measures and the six-minute walking distance. Description: B.SC.(HONS)PHYSIOTHERAPY 2018-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/41610 Title: Looking after adults with a percutaneous endoscopic gastrostomy (PEG) tube in the community : exploring the perceived needs of informal carers : a grounded theory approach Abstract: Background The PEG tube is introduced to provide a means for feeding to those individuals who have an inadequate oral intake which occurs due to dysphagia or that are not able to get enough food through their mouth to maintain an adequate nutrition status. Informal caregivers are generally involved in the care of community-based individuals who are dependent on tube feeding. Objectives To explore the perceived support needs of informal carers of adults who receive enteral tube feeding via percutaneous endoscopic gastrostomy tube living in Gozo. Design This study adopted a qualitative approach based on in-depth interviews, drawing upon principles of Grounded Theory. Setting The study took place in Gozo. Data generation and analysis took place concurrently and iteratively. Participants Participants were selected according to a set of criteria. Seven female informal carers were interviewed. These informal carers were caring for a person that have become dependent on tube feeding. Methods This study used analytic procedures in line with grounded theory methods involving coding and constant comparison of data which lead to the development of a theory about the perceived support and the coping process involved. Results The perceived needs and support that the informal carers expressed during the interviews were explored.Three categories were elicited from the findings which were: the “ Perceived Impact of the new situation”, the “ Perceived Help or Hindrance from the social environment” and “ Adjusting to the new Role”. These categories have contributed to the emergent theory. Conclusion The support received throughout the new role was given a great importance by the caregivers and it was evidently seen that to be able to adjust to the new situation, support played an important role. Recommendations for practice and future research based on the findings elicited from this study are presented. Description: M.SC.NURSING 2018-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/40872 Title: Whole body vibration therapy to lower the risk of falls in adults Abstract: Background Information: Falls, making up to approximately one third of admissions to the Accident and Emergency (A&E) Departments in Malta and Gozo, are not being given enough attention, and locally there are currently no falls prevention programmes. Whole body vibration therapy (WBVT) involves a horizontal plate vibrating at a set frequency and amplitude. These vibrations are then transmitted throughout the whole body, inducing muscle contraction and relaxation, exposing the user to passive exercise. The Formulated Research Question: Can WBVT lower the risk of falls in adults over 60 years of age? The PICO Elements: The population studied: males and females over 60 years. The intervention: WBVT with no comparison. The outcome: is to analyze whether WBVT lowers the risk of falls among the studied population. Method: An inclusion/exclusion criterion was established. Only articles published within the past ten years, performed on humans over 60 years, and published in the English language were included. Studies performed on animals or individuals who have suffered/suffer from neural, osteoporotic or muscular conditions, were excluded. A thorough search trail on Medline (ProQuest), Biomed central, SAGE Journals, PubMed, HyDi and EBSCO Host was carried out using the keyterms. Results: A total of 41 possible eligible articles were recovered. After reading the titles and abstracts of all these articles, and comparing them to Evans’ (2003) Hierarchy of Evidence, six articles (four systematic reviews and two randomised controlled trials), were considered as being valid for the search. These were then critically appraised using the Critical Appraisal Skills Programme (2017) tools. Conclusion: After interpreting the results of all papers, it was concluded that three or more weekly sessions of whole body vibration using a high frequency and amplitude, is effective in lowering the risk of falls in older adults. However, this should be further researched and guidelines on the optimal parameters used should be issued. Recommendations for Practice: Recommendations include educating healthcare professionals, those working within the hospital and community settings, about the high incidence of falls and possible treatments like WBVT. Other recommendations include the participation of nurse-led clinics, educating the community about the subject in day centres, leaflets and mass media. Description: B.SC.(HONS)NURSING 2018-01-01T00:00:00Z