Aust Fam Physician
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A polymorphism is a variant within a gene that does not necessarily affect its function, unlike a pathogenic mutation. Genetic testing for two common polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), 677C>T and 1298A>C, is being accessed by general practitioners (GPs) and alternative medicine practitioners (based on in-house records from referrals), and promoted through some pharmacies in Western Australia (based on the authors' personal communication). Due to the large, varied and often conflicting data reported on MTHFR, these polymorphisms have been weakly associated with multiple conditions, including autism, schizophrenia, cardiac disease, fetal neural tube defects, poor pregnancy outcomes and colorectal cancer. ⋯ On the basis of the available scientific evidence, we propose that there are very limited clinical indications for testing for the 677C>T and the 1298A>C polymorphisms in the MTHFR gene, and that testing is not indicated as a non-specific screening test in the asymptomatic general population.
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General practitioners (GPs) are commonly asked about popular diets. The Palaeolithic diet is both highly popular and controversial. ⋯ The Palaeolithic diet remains controversial because of exaggerated claims for it by wellness bloggers and celebrity chefs, and the contentious evolutionary discordance hypothesis on which it is based. However, a number of underpowered trials have suggested there may be some benefit to the Palaeolithic diet, especially in weight loss and the correction of metabolic dysfunction. Further research is warranted to test these early findings. GPs should caution patients who are on the Palaeolithic diet about adequate calcium intake, especially those at higher risk of osteoporosis.
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Clostridium difficile infection (CDI) has emerged as a serious worldwide public health threat. Although C. difficile has always been a cause of diarrhoeal disease in patients presenting to general practice, the rates of community-associated CDI (CA CDI) have increased. ⋯ Changes in the colonic flora (most often because of antibiotic use) and exposure to C. difficile are both required for the disease to develop. Potential sources of C. difficile in the community include the home environment, food and water, workplace and environment. Identification of risk factors for CDI may help in the early diagnosis and subsequent management of infection, and these are being explored further. GPs have a role in understanding and managing CA CDI through prudent prescribing, patient education and adequate testing.
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Ear syringing is a very common practice among general practitioners (GPs). It is used by many as the treatment of choice for cerumen (ear wax), and is usually effective and safe. However, complications from syringing are an increasingly common reason for presentation to ear, nose and throat (ENT) specialists and medico-legal complaints against GPs. ⋯ Ear wax is an important part of a normal functioning ear. It is mostly asymptomatic and requires no treatment. Softening ear drops may be necessary to help the ear fulfil its self-cleaning function, and should be considered first-line treatment. Syringing can be safely performed if this fails by taking a thorough history and examination to exclude contraindications, gaining patient consent and ensuring the appropriate use of equipment. Referral to an ENT clinic for manual removal with microsuctioning may be necessary in the event of contraindications, complications or failure.
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Provision of timely and high-quality general practitioner (GP) services to patients in residential aged care facilities (RACFs) is essential for this group of patients as they have high medical needs. ⋯ Models for general practice services include the Continuity Model, where GPs follow long-term patients; the RACF Panel model, where GPs provide care to several patients in nearby RACFs; the GPs with Special Interest in Residential Aged Care (GPwSI RAC) model, where GPs provide regularly scheduled services to larger groups of patients; the Longitudinal General Practice Team (LGPT) model, where GPs provide team-based care; and RACF-based models of care, where GPs partner with RACFs. Hospital-based models of care have also been developed to provide in-reach services to patients in RACFs during episodes of acute illness. There is limited evidence for which of these models is most effective. Developing and testing different models of general practice care should be a priority.