Publications by authors named "Daniel Maghsoudi"

Objective: Stickler Syndrome (SS) is associated with eye, joint and orofacial abnormalities. Most cases are dominantly inherited through COL2A1/COL11A1 variants encoding type-II/XI collagen, with patients having up to 78% retinal detachment (RD) risk. Rarer cases of recessive SS have also been identified, associated with pathogenic variants of genes including COL9A1, COL9A2 & COL9A3 encoding type-IX collagen, but there is limited published data on patients' phenotype or RD risk.

View Article and Find Full Text PDF

Introduction: Tibial osteomyelitis can follow open fractures with bacteria colonising the wound and persisting through biofilm and sequestrum formation. The treatment is complex, requiring eradication through debridement before limb reconstruction, for which the Taylor spatial frame (TSF) is one option. This study evaluates patient outcomes after reconstruction and identifies factors associated with post-operative complications.

View Article and Find Full Text PDF

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective-tissue disorder with vascular and musculoskeletal abnormalities similar to Marfan syndrome. However, unlike Marfan, retinal detachment (RD) is rarely reported, and screening protocols do not currently feature ophthalmic assessment or RD counseling. We report a 5-generation family affected by LDS, where RD occurred in six eyes of four individuals.

View Article and Find Full Text PDF

A 49-year-old patient, with a maternal history of arthritis, presented with an extra-capsular lump of the left knee. Following magnetic resonance imaging (MRI) scan and excision biopsy, the lump proved to be a benign ganglion cyst. The scan had also shown focal subchondral cyst formation and articular cartilage wear in the medial femoral condyle and patella, with no other abnormality.

View Article and Find Full Text PDF