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Hearing loss and Alport syndrome
Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...
Expanding the role of FNA in thyroid nodule decision-making
Papillary thyroid cancer, the commonest histological type, has been extensively reported as having BRAF proto-oncogene mutations (most commonly the V600E mutation). There is great interest in BRAF as a molecular marker, particularly as a prognostic factor that may guide the...Dizziness: confusion, issues and considerations
Douglas L Beck gives his unique take on the difficulties involved in diagnosing dizzy patients and the importance of well-founded research acting as the basis for any diagnosis and treatment decisions. Dizziness. Uh-oh. We really have a very limited understanding...
Adult Rhinosinusitis Clinical Practice Guideline update
This is a summary of the ‘Clinical Practice Guideline: Adult Sinusitis’ from the American Academy of Otolaryngology-Head and Neck Surgery Foundation. This is an update of the 2015 version. Evidenc-based statements: 1a. Differential diagnosis of acute rhinosinusitis: Clinicians should distinguish...
Videofluoroscopic swallowing studies: balancing risks and benefits
Videofluoroscopic swallow studies (VFSS) are an important part of the diagnostic toolkit and arguably the current gold-standard for assessing swallow biomechanics and diagnosing dysphagia. However, the procedure does involve exposure to radiation, and any clinician requesting this should be able...
Risk of malignancy in non-diagnostic thyroid FNACs
Thyroid nodules are present in between 21-68% of the general population. The evaluation of these nodules to exclude thyroid carcinoma includes fine-needle aspiration cytology (FNAC) and a non-diagnostic cytology result occurs between 8-20% of the time. This retrospective cohort study...
Salivary pepsin – a simple test for LPR?
A diagnosis of laryngopharyngeal reflux (LPR) can be made on the basis of characteristic symptoms and nasendoscopy findings. Objective tests exist for this condition; for example, 24-hour dual-channel pH-metry which is considered to be the gold standard. Such tests are,...Recalcitrant chronic rhinosinusitis: What to do next?
Whilst the majority of patients with chronic rhinosinusitis (CRS) will significantly improve with treatment, we are sometimes left with a ‘hard-core’ of nasal cripples who fail to improve despite our best efforts. How can we deal with these patients? Valerie...Developments in diagnostic approaches for acutely dizzy patients
The acutely dizzy patient can be a diagnostic and management dilemma for emergency departments and general practitioners, with many patients consequently having delayed access to specialised assessment and treatment. David Jay tells us about HINTS, a bedside test that can...
