Pharmacogenetics : the science of predictive clinical pharmacology

The study of pharmacogenetics has expanded from what were initially casual family-based clinical drug response observations, to a fully-fledged science with direct therapeutic applications, all within a time-span of less than 60 years. A wide spectrum of polymorphisms, located within several genes, are now recognised to influence the pharmacokinetics and pharmacodynamics of the majority of drugs within our therapeutic armamentarium. This information forms the basis for the new development of pharmacogenetic genotyping tests, which can be used to predict the therapeutic and/or adverse effects of a specific drug in a particular patient. Pharmacogenetic-guided, patient targeted therapy has now become the developing fulcrum of personalized medicine, as it provides the best means to optimize benefit/risk ratio in pharmacological management.peer-reviewe

Biotech drugs : biological therapeutic agents

The recent years has seen significant growth in a new therapeutic approach to the management of disease. Biological therapeutic agents, constitute a broad category of drugs, usually generated by recombinant techniques from living organisms. These therapies revolutionise the traditional approaches to drug design and development, and regulatory agencies have been swift in developing the necessary structures to ensure their optimal use.peer-reviewe

Solitary fibrous tumour of the nose and nasopharynx

A case of solitary fibrous tumour of the nasal cavity is reported. These tumours, rare in the nose, are believed to be similar to fibrous mesotheliomas of the pleural cavity. The main presenting symptom is that of unilateral nasal obstruction and diagnosis is made on histological examination of the lesion. These tumours have to be distinguished from other spindle-cell tumours of the nasal cavity and sinuses.peer-reviewe

A retrospective study on the Maltese population of the outcome of retinal detachment repair after the removal of silicone oil

Background: Silicone oils of different viscosities are used in the treatment of retinal detachments of varying pathology. Method: Seventy-two cases of retinal detachments managed with silicone oil were reviewed in a retrospective chart analyses. Eighty nine patients were reviewed from which data on primary pathology, type of silicone oil, duration of oil “in situ” and complications (including emulsification, increased intraocular pressure (IOP), re-detachment, cataract and presence of CME) were compiled. Of this number, 72 patients with post- operative follow-up of two years or more and documentation of the above parameters were included. The data was carefully analysed in an effort to determine the primary factor or factors of the varying silicone oil substitutes utilized responsible for the successful or non-successful re- attachment of the retina. Results: Retinal re-detachment rate is greater when Silicone Oil (SO) is removed before 12 months. Complex vs non-complex retinal re- detachments in sub-group analysis indicates superiority of retention of SO for greater than 12 months. Emulsification is greater in low viscosity SO (1300cts). Conclusion: The complication rates witnessed in this retrospective study are comparable to the findings of published studies present in the ophthalmic literature on an international scale. The findings of this study support the hypothesis that it is the duration of the SO “in situ” as opposed to the viscosity or other SO attributes which ultimately influences the re-detachment rate.peer-reviewe

Pharmacogenetics : the path to personalized prescribing

The fact that different patients may show dissimilar responses to the same drug, has been recognised for several years, and many variables, such as age, gender and body weight have been identified to contribute to this observation. The last half century has seen a rise in research concerning a new variable – genetic variation – which has been recognised to offer a major contribution to this phenomenon. Pharmacogenetics research has today established itself as an important arm of pharmacology, and has key applications in drug development and clinical therapeutics. The advent of high throughput methodologies coupled with new data derived from the human genome sequencing project, has helped to powerfully mobilise the developmental pace of this research work, and to introduce the concept of genome-wide pharmacogenetic studies, or pharmacogenomics. The eventual development of pharmacogenetic tests, able to identify patients who are most likely to adequately respond to specific therapies from those who are not, will be a landmark in the history of therapeutics, and coupled to the development of new drugs for specific pharmacogenetically-stratified patient populations, will provide a markedly enhanced toolkit for the optimization of the benefit-risk ratio in prescribing.peer-reviewe

Anxiety and the management of asthma in an adult outpatient population

Review of the literature suggests that anxiety is more common among patients with asthma than among the general population, yet it does not appear to be given the attention it deserves as part of the overall management of asthma. The aim of this study was to investigate the relationship between anxiety and asthma management, in terms of Global Initiative for Asthma steps, lung function and medication. Methods: A total of 201 consecutive patients with respiratory physician-diagnosed asthma were recruited from an adult outpatient asthma clinic. Participants underwent a sociodemographic review, and a medical interview which included a detailed drug history. Forced expiratory volume in 1 second (FEV1) and peak expiratory flow (PEF) values were recorded using a Micro Medical portable spirometer. The level of anxiety was assessed using the Beck Anxiety Inventory (BAI). Results: A total of 51.5% of participants registered clinically significant levels of anxiety. Of these only 21% had already been diagnosed and were receiving treatment. Females reported significantly higher BAI scores than males (p<0.01). More females (66.3%) registered clinically significant levels of anxiety as compared with males (33.7%) (p<0.05). There was a positive correlation between the BAI score and the prescribed dose of inhaled glucocorticoids (rs¼0.150, p<0.05) and between anxiety and GINA treatment step (rs¼0.139, p<0.05). There was also a positive correlation between anxiety and the number of medicines taken by patients (rs¼0.259, p<0.001). Conclusions: Physicians treating patients with asthma should be sensitised to the association between asthma and anxiety, and should also consider assessing patients for the possibility of anxiety disorders as part of asthma management plans.peer-reviewe

Congenital hearing loss in Malta : a survey

The congenitally deaf infant who acquires deafness prior to development of language present special problems when compared to other hearing impaired individuals. This is because both the development of speech and of language depends on adequate hearing. As speech and language are our prime means of communication, the congenitally deaf child is automatically also handicapped in his psychological development, social adaptation and work adaptability. The authors reviewed cases of congenital hearing loss presenting on a 20 year period to establish the incidence of congenital hearing impairment in the Maltese islands; to determine the common causes; to highlight any difficulties in early diagnosis and management of these children.peer-reviewe

Pharmacogenetics and personalized medicine : does gender have a role?

The study of the role of genetic polymorphisms in drug responses, is now a firmly established field of pharmacology research. It has robust applications in predicting drug effect, and therefore contributes to the process of optimum selection of drug and dose for specific patients. Since the last 10 years, the FDA as well as the EMA have set up their own pharmacogenomics advisory groups, and have flagged an increasing number of medicinal products with specific genotyping recommendations in order to reap their greatest benefit. The contribution of gender to therapeutic outcomes has long been recognised, but recent research suggests that gender influence may not only occur via well recognised hormonal pathways, but also via direct non-hormone-mediated mechanisms. This influence may confound pharmacogenetic predictors, and gender stratification may therefore be an important consideration in pharmacogenetic-based drug trials.peer-reviewe

Biotech drugs : biological therapeutic agents

The recent years has seen significant growth in a new therapeutic approach to the management of disease. Biological therapeutic agents, constitute a broad category of drugs, usually generated by recombinant techniques from living organisms. These therapies revolutionise the traditional approaches to drug design and development, and regulatory agencies have been swift in developing the necessary structures to ensure their optimal use.peer-reviewe

Pharmacogenetics : where do we stand?

“Our drugs do not work on most patients.” Such did Allen Roses, then worldwide vice-president of genetics at GlaxoSmithKline, greet his audience, during a scientific meeting in London in 2003.1 Nearly a decade has passed since then, and significant strides towards the development of genotype-guided prescribing have been made. Pharmacogenetics and pharmacogenomics are now an established area of pharmacology specialization, and they hold the promise of the key to personalized medicine, leading to safer and more effective patientfocussed therapeutic outcomes.peer-reviewe