New insight into genetic disease : the role of trinucleotide repeat expansions

The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991. These genetic diseases usually appear late in life and show the unusual phenomenon of anticipation in which the disease appears earlier and increases in severity in subsequent generations. In the present age of molecular genetics all physicians must be informed and educated about the implications of genetic diseases. Equally, there must be appropriate facilities for genetic testing and counselling and it is the responsibility of health authorities to ensure that such facilities are available and adequate.peer-reviewe

The diabetes epidemic in Malta

A note of appreciation and acknowledgement is forwarded to Professor Julian Mamo, Professor Josanne Vassallo and Professor Neville Calleja for their continuous support and advice during the academic progression.Aim: The small European Mediterranean island state of Malta is a highly prevalent type 2 diabetes (T2DM) country. Over recent decades drastic environmental, cultural and ethnic changes occurred and it was considered timely to undergo a cross-sectional survey to establish up-to-date prevalence of T2DM, its socio-geographical distribution and ultimately estimating the economic burden of T2DM. Methods: A health examination survey was conducted (2014-16) including a representative sample of the adult population stratified by 18-70 years, gender and locality (n=3,947; males n=1,997 male). The survey consisted of a socio-demographic questionnaire, various health examination measurements and blood samples for fasting blood glucose (FBG). Prevalence for T2DM (depending on medical history, medication and FBG >7mmol/L) were calculated for the general population as well as for each of the districts making up the Maltese Islands. The economic burden of T2DM for 2017 and projected burden for 2045 were calculated using secondary sources and by incorporating 2% compound interest per annum respectively. Results: A total response rate of 47.15% was obtained, with a mean age of 48 years for males and 46 years for females. Out of the total adjusted population (n=3,947, male n=1,998), the prevalence of T2DM was of 10.31%, with 6.31% already known to have T2DM while 4% were newly diagnosed. Females were diagnosed with T2DM at an earlier age than the males. No significant geographical T2DM prevalence differences were established. The total annual diabetes health care expenditure was approximately €107,316,517.82 for 2017, while the projected expenditure for 2045 was estimated at €244,136,040. Conclusion: Malta is a country with a high prevalence of diabetes. The females were observed to be at an earlier risk of developing undiagnosed diabetes compared to males. Although geographical location did not appear to have significant effect on T2DM distribution, this disease contributes to a high economic burden. The expected exponential increase in diabetes prevalence is subsequently expected to affect negatively the healthcare expenditure. This puts forward the recommendation for development of early screening programmes as part of preventive action strategies.The author is extremely grateful for the strong support forthcoming from the University of Malta (through the Medical School and Research Innovative Development Trust department) and from the Alfred Mizzi Foundation as major sponsors, as well as that of a host of others, including Atlas Health Insurance (Malta). The in-kind support and encouragement of the Parliamentary Secretariat for Health of the Government of Malta is also gratefully acknowledged.peer-reviewe

English and the science subjects

In his paper, 'Sex Differences in Science Achievement at G.C.E. 0 Level', Mr Ventura refers to an analysis by Falzon and Sammut of the results of rational examinations held in Government Secondary Schools in June-July 1975. Much against expectation, they found that girls scored significantly higher than boys even in a subject like General Science. In trying to account for this result, Falzon and Sammut hazarded that one of the reasons for the girls' superiority was their better grasp of English. Such a conclusion would give English a determining role in a candidate's success, or failure for that matter, in subjects where the language is the medium of instruction - of reading and writing and, often, of teacher's explanation.peer-reviewe

A survey of chromosome anomalies in Malta

433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age groups had a chromosome abnormality. Chromosome abnormalities were also found in 10 or 11% of boys or girls with problems of pubertal development, in 14% of azoospermic or severely oligospermic men, in 8.3% of couples with repeated foetal loss and in 5% of couples with malformed children. Whereas most cases of autosomal aneuploidies were diagnosed, a large proportion of sex chromosome anomalies, particularly in males, remained undetected presumably because of under-referral in the pubertal period. The prevalence of chromosome anomalies in Malta was 2.20 per 1,000 births between 1984 and 1987. The incidence of Down Syndrome showed great annual fluctuation with a mean of 1.88 per 1,000 births of which 61% occurred in mothers over 35 years of age. The lowest occurrence risk for trisomy 21 appears to be in the 25 to 34 years maternal age group.peer-reviewe

Three-year follow-up mortality rate in Malta

Introduction: Primary osteoporosis is a major factor in fragility hip fractures. The index fracture is loaded with morbidity and increased mortality in these very fragile patients. The aim of the study was to evaluate the mortality rate after 3 months, 1 year and 3 years post hip fracture with possible identification of any relationship between different hip fracture types and mortality. Method: A retrospective analysis of all hip fracture patients admitted to Mater Dei Hospital, from January to December 2011 was performed. Data was gathered from the operating theatre notes, the patient archiving and communication system and the electronic case summary software. The mortality data was achieved from the National Mortality Registry. Statistical analysis was performed. Results: Out of 281 patients with a hip fracture, 47% died (mortality group) within 3 years with a female predominance (68.9%). Within the mortality group, sustaining an intertrochanteric fracture exhibited a statistical difference between the females and males. Within 90 days of a hip fracture, the mortality rate was of 12.8% with the majority of the patients sustaining an intertrochanteric. The median survival period following hip fractures was 190 days for subcapital, 297 days for intertrochanteric and 427 days for subtrochanteric fractures. Conclusion: The mortality rate in our study compares well with the published results of similar studies. A team effort aimed at giving the best possible care and minimize the morbidity and mortality should be endeavored. This should encompass the whole pathway, starting with prevention and finishing with appropriate community care after hospital discharge.peer-reviewe

Mobility power flow analysis of an L-shaped plate structure subjected to acoustic excitation

An analytical investigation based on the Mobility Power Flow method is presented for the determination of the vibrational response and power flow for two coupled flat plate structures in an L-shaped configuration, subjected to acoustical excitation. The principle of the mobility power flow method consists of dividing the global structure into a series of subsystems coupled together using mobility functions. Each separate subsystem is analyzed independently to determine the structural mobility functions for the junction and excitation locations. The mobility functions, together with the characteristics of the junction between the subsystems, are then used to determine the response of the global structure and the power flow. In the coupled plate structure considered here, mobility power flow expressions are derived for excitation by an incident acoustic plane wave. In this case, the forces (acoustic pressures) acting on the structure are dependent on the response of the structure because of the scattered pressure component. The interaction between the structure and the fluid leads to the derivation of a corrected mode shape for the plates' normal surface velocity and also for the structure mobility functions. The determination of the scattered pressure components in the expressions for the power flow represents an additional component in the power flow balance for the source plate and the receiver plate. This component represents the radiated acoustical power from the plate structure

Assessing the outcome of patients who underwent a primary percutaneous coronary intervention

Introduction: Patients presenting with acute ST- elevation myocardial infarction (STEMI) of less than 12 hours from onset of chest pain are candidates for primary percutaneous coronary intervention (PPCI). Aim: To assess the patients’ outcome after 12 months of their admission by a retrospective observational study. Methodology: Data of patients admitted with STEMI and preceding to PPCI between 1st of January 2011 to 30th of June 2011 were analyzed. A total of 105 patients were recruited, identified and analyzed by using Cardiac Investigation and Patient Record (CIPR) software. Survival outcomes were determined by mortality data obtained from the Department of Information, Health and Research. Results: Out of the 105 patients having PPCI, the majority were men (81%). 8.6% died within one year. 20% had scheduled repeat coronary angiography, 9.5% requiring further PCI. 0.95% had target vessel revascularization while another 0.95% was referred for coronary artery bypass grafting (CABG) due to triple vessel coronary disease. Unplanned re-admissions rate due to another episode of chest pain was of 5.7%, out of which one presented with another STEMI requiring PPCI. The other patients underwent inpatient coronary angiogram, with 2 proceeding to PCI. The remaining 63% did not experience any other cardiovascular related episodes. Conclusion: This analysis showed that the re- admission rates over a year requiring further interventions were low as was the death rate. Only one target vessel revascularization was performed suggesting that the majority of the PPCI’s performed were successful. This is important when assessing the quality of cardiovascular interventional service provided by our state health system.peer-reviewe

Parametric and experimental analysis using a power flow approach

A structural power flow approach for the analysis of structure-borne transmission of vibrations is used to analyze the influence of structural parameters on transmitted power. The parametric analysis is also performed using the Statistical Energy Analysis approach and the results are compared with those obtained using the power flow approach. The advantages of structural power flow analysis are demonstrated by comparing the type of results that are obtained by the two analytical methods. Also, to demonstrate that the power flow results represent a direct physical parameter that can be measured on a typical structure, an experimental study of structural power flow is presented. This experimental study presents results for an L shaped beam for which an available solution was already obtained. Various methods to measure vibrational power flow are compared to study their advantages and disadvantages

Extension of vibrational power flow techniques to two-dimensional structures

In the analysis of the vibration response and structure-borne vibration transmission between elements of a complex structure, statistical energy analysis (SEA) or finite element analysis (FEA) are generally used. However, an alternative method is using vibrational power flow techniques which can be especially useful in the mid frequencies between the optimum frequency regimes for SEA and FEA. Power flow analysis has in general been used on 1-D beam-like structures or between structures with point joints. In this paper, the power flow technique is extended to 2-D plate-like structures joined along a common edge without frequency or spatial averaging the results, such that the resonant response of the structure is determined. The power flow results are compared to results obtained using FEA results at low frequencies and SEA at high frequencies. The agreement with FEA results is good but the power flow technique has an improved computational efficiency. Compared to the SEA results the power flow results show a closer representation of the actual response of the structure