OAR@UM Collection:https://www.um.edu.mt/library/oar/handle/123456789/420312024-03-29T05:35:56Z2024-03-29T05:35:56ZAlkaptonuria from bench to bedside and beyondhttps://www.um.edu.mt/library/oar/handle/123456789/404842019-05-22T05:29:16Z2018-01-01T00:00:00ZTitle: Alkaptonuria from bench to bedside and beyond
Abstract: Dr Michelle Muscat meets Mr Reece Edmends, the Administration and Communications officer of the Alkaptonuria Society based in Cambridge, UK. Alkaptonuria is also known as black bone disease, a disorder affecting the metabolism of tyrosine and phenylalanine, where homogentistic acid accumulation occurs in connective tissue (ochronosis). In the young the disease may be asymptomatic, with the main finding being urinary discoloration when left standing with symptoms such as joint pains starting to develop as they grow older. In alkaptonuria there is homogentistic acid oxidase deficiency. The Egyptian mummy Harwa - believed to date back as far as 1500 BC - was actually documented to be ochronotic and probably had alkaptonuria. Alkaptonuria is an autosomal recessive disorder first described by the British doctor Sir Archibald Garrod in 1902 - interestingly, Sir Archibald served in Malta providing medical consultancy to the army during World War One and was made Knight Commander (KCMG).2018-01-01T00:00:00ZManagement of localised renal cell cancerVassallo, Pierrehttps://www.um.edu.mt/library/oar/handle/123456789/404822019-05-22T05:29:22Z2018-01-01T00:00:00ZTitle: Management of localised renal cell cancer
Authors: Vassallo, Pierre
Abstract: Renal cell cancer (RCC) is common, and its incidence is increasing due to increasing exposure to risk factors which include tobacco use, hypertension and obesity. Localised renal cancers are often detected incidentally, and their increased incidence also results from the increased use of imaging. Localised renal cancer now accounts for 60-70% of new RCC cases. Many of these cancers are slow growing and show little tendency to metastasize. Only a minority of patients with localised renal cell cancer have any clinical signs such as haematuria or abdominal pain. These tumours are often detected incidentally on ultrasound but are best characterised using computed tomography (CT), where they may appear as a solid contrast-enhancing mass or a complex cystic lesion. Imaging features are similar on Magnetic Resonance Imaging (MRI) and the latter is equally accurate for the evaluation of renal lesions; it may be used in patients who are allergic to iodinated contrast material, in those with poor renal function, in lesions containing complex haemorrhage or where radiation exposure must be avoided (e.g. pregnancy).2018-01-01T00:00:00ZClinical implications of bioinformaticsGrech, AlfredBalzan, Michaelhttps://www.um.edu.mt/library/oar/handle/123456789/404812019-09-27T08:09:07Z2018-01-01T00:00:00ZTitle: Clinical implications of bioinformatics
Authors: Grech, Alfred; Balzan, Michael
Abstract: Over the past decade, the science of clinical bioinformatics has become one of the fastest growing areas of research and development within the healthcare environment. Indeed, the job of a bioinformatician has become an integral part of research laboratories. In particular, clinical bioinformatics aims to address the challenges in diagnosis, prognosis, and therapies of patients with diseases such as cancer, neurodegenerative (e.g. ALS, Alzheimer’s and Parkinson’s disease), allergic (e.g. asthma), and psychiatric disorders (e.g. depression), amongst others.2018-01-01T00:00:00ZThe pitfalls of immunohistochemistryCilia Vincenti, Alberthttps://www.um.edu.mt/library/oar/handle/123456789/404802019-05-22T05:29:43Z2018-01-01T00:00:00ZTitle: The pitfalls of immunohistochemistry
Authors: Cilia Vincenti, Albert
Abstract: This is 1996. I had returned to a consultant histopathologist’s post at St Luke’s Hospital the year before, and had become acquainted socially with a Maltese commercial lawyer and his ex-pat wife. Shortly afterwards, he informed me that his wife hasn’t been well and that Dr Mario Vassallo had just performed a private gastroscopy, was worried she had something serious and whether I would mind looking at the biopsy material. Mario Vassallo found a large gastric ulcer with rolled edges, practically diagnostic of a carcinoma. Fortunately the histology showed a low grade lymphoma of “mucosa-associated lymphoid tissue” (MALT) type, which carried a far better prognosis.2018-01-01T00:00:00Z