Point-of-care genetic counselling : should family physicians counsel patients on genetic testing and screening?

Family medicine has come of age, with family doctors/general practitioners taking on greater roles and responsibilities and health care systems recognizing the important role of primary care. It is in this scenario that the question of pre- and post- testing counselling of genetic tests which are or would be offered directly to the general public through advertising and over-the-counter testing is being raised. This type of counselling would require enough personnel to deal with a large number of people; people who may not have genetic disorders in their families but who are curious about testing such as that for Breast Cancer (BRCA). It is argued that family doctors, albeit needing continuing professional development in this area, already have a solid foundation in genetics and are strategically placed in the community and numerous enough to impart such counselling. This would also liberate the responsibility from specialised geneticists who need to deal with families and individuals who have more serious genetic disorders to be managed.peer-reviewe

The Malta Medical School Conference

The next Malta Medical School Conference, the ninth one in the series, is being held towards the end of 2015.peer-reviewe

Treating Rheumatoid Arthritis yesterday and today

Rheumatoid arthritis is a chronic, systemic inflammatory disorder that mainly affects joints. It is the most common form of inflammatory joint disease, and the second commonest joint disease, osteoarthritis being the commonest. The overall prevalence of rheumatoid arthritis has generally been given as 1% - with females outnumbering males in a ratio of 3-4:1, although there is some evidence that the incidence of the disease is decreasing. 1 Apart from this, the occurrence of rheumatoid arthritis is not the same throughout the world. It is quite rare in less developed rural parts of the world - thus one study in Nigeria failed to find one single case.2 Studies in Europe have shown that there is a gradient in the prevalence of rheumatoid arthritis, starting from a low prevalence in the South (e.g. Italy 0.31%)3 to a higher prevalence in the North (e.g. Finland 0.8%)4 While no formal epidemiological studies on rheumatoid arthritis have been carried out in Malta, a total of approximately 600 patients with the disease are followed up at the Rheumatology Clinic at St. Luke's Hospital, giving a prevalence of 0.16%.peer-reviewe

Dermal fillers

Tissue augmentation is a specialist area of bio-engineering which has been the subject of intrinsic research over the last twenty-five years, and represents a marriage of innovative pharmacology and chemical applications as diverse as reconstructive surgery, cosmetology, ophthalmic/ ENT and orthopaedics. In the field of cosmetic surgery, dermal filling is one of the most performed procedures. The earliest skin tissue expander or filler was autologousfat which is today undergoing a revival, as extraction and injection methods improve.peer-reviewe

The provision of financial education in Malta

It is becoming evident that preparation for life requires more than developing the ability to read and write, manipulate figures, and become technologically savvy. The provision of holistic education also entails developing other forms of literacies, amongst which is the ability to empower individuals to manage personal finances and understand corporate and public financial decisions and outcomes. In the absence of such a preparation, students emerge out of compulsory schooling vulnerable to scams and untrained to manage personal wealth and plan ahead. Given that little local research has so far been undertaken to investigate this area, this paper is an attempt to stimulate discussion on financial education in Malta. It takes a close look at the local educational system and investigates access and content in this area provided by compulsory schooling. This paper employs content analysis of local and international official documentation to bring to the fore the urgent need for local research on the requisites to enhance the provisions of financial literacy. Further research into the levels of school leavers’ financial literacy and the quality of financial education is deemed crucial by this study to shed further light on the subject. This study emphasizes the lack of research in this important area, notwithstanding the fact that financial education is of direct interest to policy-makers, educators, and the business community.peer-reviewe

Maltese doctors : views and experiences on end of life decisions and care

Background: End of life (EoL) decisions are important and challenging for doctors. Aim: To better understand, describe and quantify this aspect of care. Methodology: A national cross-sectional validated survey was mailed to all doctors of the country. Results: The response rate was 39.3%. The respondents had been practicing for 19.72 years (95% CI: 18.3 – 21.0). 86% of respondents declared that their religion was important in EoL care. 42.9% (25.6% disagreed, 31.5% neutral) agreed with the right of a patient to decide whether or not to hasten the end of life. 48.6% agreed (34% disagreed, 17.4% neutral) that high quality palliative care nearly removes all requests for euthanasia. 60.4% agreed (23.9% disagreed, 15.7% neutral) that physicians should aim to preserve life. Each doctor cared for an average of 10.5 EoL (95%CI: 8.45-12.64) patients in the prior 12 months. 32.1% of doctors withdrew or withheld treatment in the care of these patients. Of the remaining 67.9%, 36.6% agreed with such practices. 50.3% had intensified analgesia at EoL with the possibility of hastening death. Only 6% had sedated patients at EoL. Lastly, 11.9% received request for euthanasia whilst 90.2% of doctors would never consider euthanasia. Significant correlations were observed between considering euthanasia, importance of religion, withdrawing/withholding treatment, doctors’ specialty, preservation of life and request for euthanasia. A thematic analysis of comments highlighted the importance of the topic, feeling uncomfortable in EoL care, the religious aspect of care, lack of legal framework and the challenge of symptom control. Conclusions: The overall majority of doctors is against euthanasia. There is a strong sense of guidance by their religious beliefs when it comes to EoL care. Doctors believe in preserving life as a guiding principle at the end of life, but do not shun intensification of analgesia at the end of life. Different specialties have slightly different views on EoL. Doctors need guidance – legal and moral - on this subject, in the absence of which, their religion and philosophy of life is used to guide them in this rather difficult area of practice.peer-reviewe

Pathogenesis of endocrine thyroid cancer

This review aims to discuss the different genetic alterations that may come about and thus give rise to thyroid cancer. The importance of understanding the pathogenesis of this disease is in the use of these genetic alterations as prognostic markers and as targets in treatment. Principal alterations to these central pathways, namely the MAPK pathway and PI3K/AKT pathway, are mutations, increase in gene number, methylations and translocations. The effects of the environment on the progression of thyroid cancer, such as the effects of the microenvironment and exposure to endocrine disruptors, will also be discussed.peer-reviewe

The use of salt in restaurants

A high intake of salt is detrimental to health as it causes high blood pressure thus increasing the risk of cardiovascular disease (CVD) and renal disease. Such conditions, mostly hypertension, are common in Malta. A framework for a National Salt Initiative was proposed by the European Union (EU) to establish a common vision for a general European approach towards salt reduction. Since the initiative partly targets reformulation actions with industry and catering, a study done in collaboration with the World Action on Salt and Health (WASH) exploring the use and perceptions of salt amongst chefs and caterers was carried out. A validated questionnaire developed by WASH was sent via email to 66 restaurants together with a covering letter. These included first, second and third class restaurants registered with the Malta Hotels and Restaurants Association (MHRA). 31 restaurants responded to the questionnaire to give a response rate of 47%. The main outcome of the study showed that 90% of the participants added salt to dishes to enhance flavour and improve taste. Although 99% of the respondents were aware which foods are low or high in salt, salt in dishes was replaced by soy sauce and stock cubes. 58% of the respondents were ready to consider reducing salt in their dishes as long as taste was not compromised. Due to the poor response rate, the study cannot be generalised to the Maltese population thus repeating the study with the aim of increasing the response rate so that further recommendations for salt reduction can be made within the population as well as for the catering industry.peer-reviewe

Anti-phospholipid antibodies : case report and review of the literature

There is currently considerable interest in antibodies directed against phospholipids. Several clinical associations with these antibodies have been defined, the strongest ones being with thrombosis and recurrent foetal loss. These antibodies were originally studied in patients with systemic lupus erythematosus, but they have also been found to occur in patients who do not have this disease. This paper describes two such patients and discusses current views on antiphospholipid antibodies.peer-reviewe