Publications by authors named "Josanne Aquilina"

Article Synopsis
  • The study examines the genetic and clinical profiles of the largest group of ALS patients from Malta, highlighting the island's unique genetic isolate status.
  • Using whole-genome sequencing, researchers found that over 45% of patients had damaging genetic variants associated with ALS, primarily in less common genes like ALS2 and SETX.
  • Importantly, major ALS-related genes were rarely found in Maltese patients, suggesting that Malta’s population presents a distinct genetic landscape for understanding ALS risk factors.
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Introduction: Deep Brain Stimulation (DBS) requires a specialist multidisciplinary approach and lifelong follow-up. Patient access can be a challenge for small nation states. Malta is an island nation with a population of just under 450 000.

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This is a patient who was presented initially with symptoms of malaise, tiredness and exertional dyspnoea and found to have a severe normocytic normochromic anaemia with low reticulocyte counts. Bone marrow confirmed the diagnosis of pure red cell aplasia (PRCA) and at the time serology for recent parvovirus infection was positive. He was successfully treated with transfusions and intravenous Ig.

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Opsoclonus myoclonus syndrome (OMS) is a rare, neurological condition affecting 1 in 10 000 000 people annually. Opsoclonus, defined as involuntary rapid, multivectorial oscillations of the eyes, together with ataxia and myoclonus are usually present. OMS may be paraneoplastic: often associated with occult neuroblastoma in childhood and with breast carcinoma or small cell lung carcinoma in adults.

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A 25-year-old man presented with blurred vision, headache and dizziness. On questioning, there was also a history of a preceding diarrhoeal illness. Initial investigations were normal.

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