Research and audit amongst undergraduate medical students

The student’s perception of their role in research and development Medical undergraduates are often too focused on their studies and disregard the importance of Medical Research and Audit both for their own personal development and also for the benefit of the general medical community. This is probably due to the lack of exposure and understanding of what being involved in such projects truly entails. Some view it as a waste of time, others see it as beyond their expertise while others don’t know where to start. This review on the topic is aimed at giving a general introduction to medical research, the pros and cons of getting involved and how any student should get started.peer-reviewe

A biomarker guided approach in heart failure

Heart failure is one of the commonest diagnoses presenting to physicians in the community or hospital care. Symptoms are often subjective, with clinicians having to rely on clinical assessment and radiological imaging to manage these patients. Treatment is often symptomatic with no clear therapeutic goals as yet identified. To date, there are no objective measures to diagnose, predict, prognosticate or guide therapy in compensated and decompensated heart failure, which is why a novel biomarker guided management approach is gaining so much momentum in the clinical community. This review encompasses recent data on this new approach and details on the potential clinical benefits of the most widely studied cardiac biomarkers currently available.peer-reviewe

Takotsubo cardiomyopathy in a healthy twenty year old

Takotsubo cardiomyopathy, also known as Transient apical ballooning syndrome, stress-induced cardiomyopathy and broken-heartsyndrome, is a rare non-ischemic cardiomyopathy that presents as an acute coronary syndrome without evidence of obstructive atherosclerotic coronary disease. Its name is derived from the Japanese Takotsubo – an octopus trap, resembling the elliptical shape of the very typical akinetic left ventricular apex during systole on imaging studies. It is nowadays increasingly recognized as a new disease entity when faced with normal coronary arteries on angiography with the very typical left ventriculogram, often presenting with acute heart failure, arrhythmias or rarely ventricular rupturepeer-reviewe

Puerperal Streptococcus pneumoniae endometritis : a case report and literature review

Streptococcus pneumoniae endometritis is an exceedingly rare clinical occurrence in the immunocompetent individual. This case report describes such an occurrence in an otherwise healthy woman 39 days post-normal vaginal delivery. The patient responded to prompt broad-spectrum intravenous antibiotics and made a full recovery. The clinical relevance of such a scenario, the likely pathogenesis of the event as well as a brief review of relevant clinical literature are discussed. Streptococcus pneumoniae genital infection was a well-documented clinical entity in the pre-antibiotic era with a high mortality rate – 26% for localised infection and 74% for peritonitis and sepsis. More recently, however, there have been only isolated reports of Streptococcus pneumoniae genital infection, with even less frequent accounts of this happening in immunocompetent individuals. In this report, we document a case of Streptococcus pneumoniae endometritis in a young, previously healthy female 39 days post-partum.peer-reviewe

Omeprazole-induced delirium

Delirium is a common manifestation in the elderly, with studies quoting a prevalence of up to 14% in the community in those aged 85 years and older. It occurs in 10-34% of patients living in long term care facilities and occurs in 30% of patients presenting to the accident and emergency departments. Despite the fact that 10-42% suffer from delirium during a hospital stay, complicating 17-61% of major surgical procedures, it is unfortunately only recognized in 20-50% of cases. Despite the higher prevalence in the elderly population, it may present in all age groups, identified as per the ‘American Psychiatric Association’ (APA) Diagnostic and Statistical Manual (DSM-IVTR and DSM-V Proposed Revision) criteria. Medications are potential causes for delirium, accounting for as much as 39% of cases of delirium in the elderly, with the latter population being more at risk than other age groups due to altered pharmacokinetic and pharmacodynamics associated with the aging process.peer-reviewe

Presentation and management of diabetic ketoacidosis in adults in Malta

Aim: The aim of this audit was to assess adherence to local guideline in the management of Diabetic Ketoacidosis (DKA). Method: Patients admitted with DKA between April 2013 and March 2015 were identified and data was retrospectively collected from patients’ confidential files and Isoft®. Data collected included initial parameters recorded and biochemical investigations taken (initial and subsequent assessment of pH, HCO3-, blood glucose, potassium levels and urinary ketones), insulin regime started and intravenous fluid administered. Results: During the established time period 40 cases of DKA were identified in 18 patients. Median age was 33 years with a female preponderance of 60%. Six patients had newly diagnosed diabetes mellitus while 8 patients had more than one admission of DKA. All cases had capillary blood glucose monitoring (BGM) and/or venous random blood (plasma) glucose (RBG) checked and pH and HCO3- recorded on admission. 0.9% sodium chloride was the intravenous fluid started in all cases (as recommended by the guideline) and a median of 6.75L was prescribed during the first 24 hours. The median time spent on intravenous insulin infusion was 42.7 hours while the median time to pH >7.30, HCO3- >15mmol/L and negligible urinary ketones were 6.88, 12.83 and 34.5 hours respectively. Subcutaneous insulin was started at a median time of 48.21 hours from initiation of DKA protocol. Conclusion: This audit showed good adherence to local guideline. The great discrepancy between the time to pH >7.3 and the time to negligible urinary ketones highlights the need to introduce tools to measure systemic ketone production in the management of DKA with an update in the current local clinical practice guideline.peer-reviewe

Identification of an HNF1A p.Gly292fs frameshift mutation presenting as diabetes during pregnancy in a Maltese family

The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α (HNF1A) are responsible for most forms of monogenic diabetes in Northern European populations. Genetic analysis through a combination of whole exome sequencing and Sanger sequencing in three Maltese siblings and their father identified a rare duplication/frameshift mutation in exon 4 of HNF1A that lies within a known mutational hotspot in this gene. In this report, we provide the first description of an HNF1A-MODY3 phenotype in a Maltese family. The findings reported are relevant and new to a regional population, where the epidemiology of atypical diabetes has never been studied before. This report is of clinical interest as it highlights how monogenic diabetes can be misdiagnosed as either type 1, type 2, or gestational diabetes. It also reinforces the need for a better characterisation of monogenic diabetes in Mediterranean countries, particularly in island populations such as Malta with a high prevalence of diabetes.peer-reviewe

An analysis of incidence and characteristics of Cushing's syndrome in Malta : a population based study

AIM: There are few reports discussing incidence and characteristics of the whole group of Cushing’s syndrome patients in the literature. The aim was to establish the incidence of endogenous Cushing’s syndrome with in-depth analysis of their various subtypes in a well-defined population.METHODS: Retrospective cross-sectional analysis of Cushing’s syndrome patients diagnosed between 2008 and 2017. A thorough search for patients was carried out in the central hospital registries including outpatients departments, surgical registries, radiological department and specialty clinic databases.RESULTS: 26 patients were identified as diagnosed with Cushing’s syndrome over the 10-year period equating to a standardised incidence rate (SIR) of 4.7/1,000,000/yr with an almost equal SIR among males and females. Analysing the various subtypes of Cushing’s syndrome, the majority (n = 13) were due to an ACTH secreting pituitary adenoma (SIR 2.5/1,000,000/yr). In this subtype males had a SIR of 3.4/1,000,000/yr compared to 1.7/1,000,000/yr in females. ACTH independent Cushing’s had a SIR of 1.8/1,000,000/yr with a strong female predominance (9:1) (SIR females: 3.0/1,000,000/yr; males: 0.5/1,000,000/yr). The SIR of ectopic ACTH secreting tumours was 0.4/1,000,000/yr. Interestingly hypokalaemia was present at diagnosis in those patients who harboured malignant causes for their Cushing’s syndrome (ectopic ACTH secreting tumours or adrenocortical carcinomas) and had markedly elevated cortisol levels at baseline compared to the rest (P < 0.001). Mean cortisol post overnight dexamethasone suppression testwas 1714 nmol/l (± 692 S.D.) in the malignant patients and 522 nmol/l (± 288 s.d.) in those patients with a benign tumour (P = 0.004). Mean ACTH values for Cushing’s disease patients was 110.4 (± 77.2 SD) pg/ml while in the ACTH independent group it was 5.5 (± 4.7 S.D.) pg/ml (P < 0.001).CONCLUSION: Cushing’s syndrome is a rare disease. Although the numbers are small, we could still establish distinct characteristics in the different subtypes.peer-reviewe