Orbital compartment syndrome secondary to subperiosteal abscess initiated by barotrauma.

This case report demonstrates an unusual complication of bacterial rhinosinusitis, causing orbital compartment syndrome from a presumed barotrauma. We postulate that the patient developed unilateral optic neuropathy, as a result of orbital compartment syndrome, secondary to orbital subperiosteal abscess following direct communication with the ethmoid sinus initiated by barotrauma. It is supported by evidence of a bony dehiscence on the lamina papyracea of the medial orbital wall with sudden onset of pain, proptosis and visual symptoms during flight.

Unusual presentation of granular cell tumour of buccal mucosa.

Granular cell tumour (GCT) is a rare soft tissue lesion which many consider to have malignant potential of yet unknown aetiopathogenesis. Oral GCT lesions may occur in an area of leucoplakia and are predominantly present on the tongue. This case study highlights an uncommon presentation of this condition located on the buccal mucosa and illustrates the need for meticulous evaluation of suspicious lesions.

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.

Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutations (nonsense or frame-shifting indels) manifest as mild disease. Exceptions to the dystrophin reading frame rule are usually resolved after molecular diagnosis on muscle RNA.