Hilar Cholangiocarcinoma - Klatskin’s Tumour : review of the literature and report of first successfully resected case in Malta

Hepatic duct confluence sclerosing cholangiocarcinoma (Klatskin’s Tumour) is described as a small tumour in an inaccessible position, high up in the hilum of the liver. In the past the position of the tumour made it difficult to diagnose at operation, but nowadays with intelligent use of ultrasonography, percutaneous transhepatic cholangiography and digital subtraction angiography, pre-operative identification and localisation of this tumour is possible in a high percentage of cases. In this article the first case successfully treated by curative resection in Malta is presented after reviewing in detail the present international state of surgery for these tumours.peer-reviewe

Unravelling the tangle of genetic testing : part 2

Apart from the DNA sequences that can be translated into the corresponding protein, the gene contains or is related to other sequences that control its function and expression. Just upstream of the start codon there is a region that is called the promoter region. This area controls (promotes) the expression of the corresponding gene. Other sequences, this time downstream from the last codon, can also exert: control on the gene transcription (enhancing mRNA production). Other important areas are the 5' and 3' untranslated regions, the former playing a major role in the control of mRNA translation whilst the latter has an important role in mRNA stability.peer-reviewe

Thalassaemia : a review

Although reference to a disease causing anaemia in children can be found in ancient Greek and Italian writings, the first clinical description of thalassaemia as a separate entity, was done by Cooley and Lee in 1925. Since then b-thalassaemia has also been known as Cooley's anaemia. The term 'thalassaemia' was in fact coined by Whipple and Bradford in 1932, in their paper on the pathology of the disease. Thalassaemia is derived from the Greek word Qalassa (Thalassa) meaning 'the sea'. It has been generally accepted that the high incidence of thalassaemia and the common haemoglobin variants, Hb S, Hb E and HB C, in certain areas of the world is the result of selective pressures of Plasmodiumfalciparum malaria. As can be seen in figure 1, the distribution of these disorders follow quite closely the distribution of P. falciparum. There is good evidence to believe that carriers of one mutated gene had a higher reproductive fitness in malarial areas as compared to normal individuals, possibly due to an inability of the intracellular parasite to complete its life cycle.peer-reviewe

Health perceptions and adherence to diet

Advances in the medical and technological field have greatly extended the life-expectancy of individuals with chronic conditions. However, such individuals may still experience difficulties in various domains such as in adjusting to their condition and in adhering to a recommended treatment regimen. Hence, one potential role of research on health perspectives is to provide information on factors which contribute to the favorable management of a chronic condition. This paper will utilize Leventhal’s self-regulation model1 in order to explain plausible cognitive factors that may have an influence on adherence to a diet regimen.peer-reviewe

Coeliac disease : the wandering iceberg

Coeliac disease (CD), also known as coeliac sprue, non-tropical sprue, and gluten-sensitive enteropathy, is an inflammatory disease of the upper small intestine that results from gluten ingestion in genetically susceptible individuals.peer-reviewe

The genetics of the muscular dystrophies

When one mentions muscular dystrophy, the mental picture that emerges is that of Duchene Muscular Dystrophy (DMD). In reality, the term muscular dystrophy refers to around six, heterogenous groups of inherited disorders characterised by progressive muscle wasting and weakness. The common feature of all the dystrophies is the histological picture of muscle biopsy with the typical signs of muscle fibre variation, muscle necrosis and increased fat and connective tissues.peer-reviewe

Psoriasis : new insights into and old disease

With an estimated worldwide incidence of about 2%, psoriasis is the most common autoimmune disease in the world with about 80 million affected persons, 20 million of whom being affected in a moderate to severe way. Though psoriasis is common in people of all ages, it appears more frequently in early adulthood.peer-reviewe

The current situation for the water sources in the Maltese Islands

This commentary addresses issues related to the scarcity of water in the Maltese Islands and its main causes. Some basic metrics related to the abstraction of freshwater, contamination of groundwater by nitrate and the limitations and challenges of the water sources in the Maltese Islands are highlighted. Hereafter, the relation between water scarcity, rainfall and population density, as well as the resultant effects on the sustainability of the freshwater sources of the Maltese Islands are presented. The current focus is on the production of good quality water based on a number of Reverse Osmosis (RO) plants that are found around the Maltese Islands. The significant energy requirements of this technology are compared with those for groundwater and wastewater treatment production. Current practices in the Maltese Islands regarding the treatment and use of sewage effluent by Sewage Treatment Plants (STPs) are described. The use of treated sewage effluent as an alternative source of water to RO water and of groundwater for second class uses is discussed. This paper concludes that the technology needed to employ treated effluents for unrestricted agricultural use and also for aquifer recharge is now in existence.peer-reviewe

National strategy for health research and innovation

In 2011, the Malta Council for Science and Technology (MCST) commissioned the Development of a dedicated strategy for health research and innovation in line with its mandate from Government to identify areas of national priority and design and to also implement strategic approaches to enhance economic competitiveness and quality of life. The Strategy was drawn up by a steering group which also included people from outside the health sector, to ensure that it also keeps note of the economic side of things.peer-reviewe

Methylation status of the Runx2 p2 promoter in a family with ectopic maxillary canines

Genetic factors contribute to the aetiology of the ectopic canine (EC) (OMIM 189490), the inheritance pattern being autosomal dominant with variable expression and incomplete penetrance. However there is also evidence for an epigenetic component. The Runx2 gene is intimately involved in the mechanism of tooth eruption. It controls differentiation and maturation of osteoblasts and is expressed in the dental follicle and alveolar bone at all stages of development [2,3]. Mutations of this gene result in delayed and ectopic eruption of teeth. There is a large CpG island spanning its proximal promoter, first exon and part of the first intron. Similarities between the inheritance patterns of EC and other methylation disorders raises the hypothesis that differential methylation of the Runx2 promoter may contribute to EC. This study investigates the methylation status of the Runx2 P2 promoter in ectopic canine subjects and unaffected controls. There was no evidence of differential methylation between the groups.peer-reviewe