16 research outputs found
supplemetary_methods – Supplemental material for Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family
No full textSupplemental material, supplemetary_methods for Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family by Nikolai Paul Pace, Christopher Rizzo, Alexia Abela, Mark Gruppetta, Stephen Fava, Alex Felice and Josanne Vassallo in Clinical Medicine Insights: Case Reports</p
Structured Illumination for In-Vivo Retinal Imaging
No full textStructured illumination can potentially be used for superresolved axially-sectioned retinal images. A method for applying structured illumination to in-vivo retinal imaging is proposed
The life journey of gifted adults : a narrative exploration of developmental differences
No full textThe experiences of culturally diverse gifted learners have become a focus for research within the last decade, as have the experiences of gifted adults, yet few of these studies have been completed within Australia. The majority of research currently available in this field within Australia focuses on gifted children or adolescents. This doctoral research investigates the narrative lives of gifted adults across multicultural Australia. Interviews with Indigenous, Asian and European participants provided an array of cultural perspectives, and also represented a range of religious beliefs including Atheist, Buddhist, Christian, and Islamic viewpoints. Their culturally diverse life experiences, education, moral and spiritual development are shared through the presentation of their perspectives, insights and understandings of the phenomenon of giftedness. The study involved a bricolage of qualitative research methodology and data collection strategies, including phenomenology, ethnography, narrative and art inquiry, to inform the research. Therefore the narratives are collected from interview data, value activities and collage work. The research journey is complemented by metaphoric imagery and key themes are also represented visually. The author uses a bicompetent approach to research incorporating both traditional academic and indigenous styles of presentation. The combination of these methodologies and variety of data collection and analysis strategies used resulted in a many faceted, multi-voiced dissertation contributing to the literature on giftedness by exploring an under utilised source, the gifted adults of multicultural Australia, whilst honouring their narrative life stories
Long-Term Survival After Acute Myocardial Infarction and Relation to Type 2 Diabetes and Other Risk Factors
No full textStudy of the dynamic tear film aberrations using a curvature sensing setup
No full textThe advancement in adaptive optics in recent years has increased the interest in the dynamic aberrations of the eye, including those introduced by the first optical surface provided by the tear film. A curvature sensing system to measure the dynamic topography of the tear film is described. This optical system was used to measure the aberrations of the tear film on 14 eyes. The evolution of this surface is monitored through videos of the tear film topography. The effect on optical quality is studied from the time-evolution of the RMS wavefront error showing non-negligible aberration variations attributed to the tear film layer; the effect of tear film break-up on the ocular optical quality is also discussed. Furthermore, the aberration maps are decomposed into their constituent Zernike components showing stronger contributions from 4th order terms, and also from those components with vertical symmetry which can be attributed to the effect of the eye lids on the tear film. Finally, the power spectra of the RMS wavefront error evolution show that the strongest contributions of the tear film aberrations are to be found at low frequencies, typically below 2Hz
Measurement of the dynamic aberrations introduced by the tear film in the human eye using a curvature sensor for the optimization of retinal imaging with adaptive optics
No full textInternational audienc
Effect of wavefront aberrations on a focused plenoptic imaging system: a wave optics simulation approach
No full textA plenoptic imaging system records simultaneously the intensity and the direction of the rays of light. This additional information allows many post processing features such as 3D imaging, synthetic refocusing and potentially evaluation of wavefront aberrations. In this paper the effects of low order aberrations on a simple plenoptic imaging system have been investigated using a wave optics simulations approach
Identification of an p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family
No full textThe diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α ( HNF1A ) are responsible for most forms of monogenic diabetes in Northern European populations. Genetic analysis through a combination of whole exome sequencing and Sanger sequencing in three Maltese siblings and their father identified a rare duplication/frameshift mutation in exon 4 of HNF1A that lies within a known mutational hotspot in this gene. In this report, we provide the first description of an HNF1A -MODY3 phenotype in a Maltese family. The findings reported are relevant and new to a regional population, where the epidemiology of atypical diabetes has never been studied before. This report is of clinical interest as it highlights how monogenic diabetes can be misdiagnosed as either type 1, type 2, or gestational diabetes. It also reinforces the need for a better characterisation of monogenic diabetes in Mediterranean countries, particularly in island populations such as Malta with a high prevalence of diabetes
Presentation and management of diabetic ketoacidosis in adults in Malta
No full textAim: The aim of this audit was to assess adherence to local guideline in the management of Diabetic Ketoacidosis (DKA).
Method: Patients admitted with DKA between April 2013 and March 2015 were identified and data was retrospectively collected from patients’ confidential files and Isoft®. Data collected included initial parameters recorded and biochemical investigations taken (initial and subsequent assessment of pH, HCO3-, blood glucose, potassium levels and urinary ketones), insulin regime started and intravenous fluid administered.
Results: During the established time period 40 cases of DKA were identified in 18 patients. Median age was 33 years with a female preponderance of 60%. Six patients had newly diagnosed diabetes mellitus while 8 patients had more than one admission of DKA. All cases had capillary blood glucose monitoring (BGM) and/or venous random blood (plasma) glucose (RBG) checked and pH and HCO3- recorded on admission. 0.9% sodium chloride was the intravenous fluid started in all cases (as recommended by the guideline) and a median of 6.75L was prescribed during the first 24 hours. The median time spent on intravenous insulin infusion was 42.7 hours while the median time to pH >7.30, HCO3- >15mmol/L and negligible urinary ketones were 6.88, 12.83 and 34.5 hours respectively. Subcutaneous insulin was started at a median time of 48.21 hours from initiation of DKA protocol.
Conclusion: This audit showed good adherence to local guideline. The great discrepancy between the time to pH >7.3 and the time to negligible urinary ketones highlights the need to introduce tools to measure systemic ketone production in the management of DKA with an update in the current local clinical practice guideline.peer-reviewe
