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Huntington’s disease: An overview

A look at the presentation and pathophysiology of Huntington’s disease and the latest national and international research approaches to developing therapies Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder causing movement, cognitive and psychiatric deterioration leading to progressive disability and eventual death. The genetic mutation was identified in 1993 as an expanded CAG repeat…

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Multiple sclerosis: Diagnosis, management and impact of Covid-19

MS overview MS is a neurological condition caused by inflammation affecting the brain and spinal cord. It is a demyelinating disease, which pathologically is characterised by damage to the myelin. The exact aetiology remains unclear although a combination of genetic and environmental factors such as Epstein-Barr virus (EBV) exposure, vitamin D and smoking play a…

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Migraine and healthcare professionals: The European picture

Lack of education and training for clinicians is a key issue impeding proper management of migraine On 22 September, the European Migraine and Headache Alliance (EMHA) organised ‘The Missing Lesson’ webinar to raise awareness about migraine at EU level and kick-start its EU policy advocacy campaign to make migraine a European health priority. The webinar…

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Telemedicine in rare neurological diseases

European Reference Networks are virtual networks that connect healthcare professionals around Europe with expertise in rare diseases to help patients We are living in unprecedented times. If I had been told this time last year that I would be seeing and doing clinical examination, even if limited in some cases, virtually on a regular basis…

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Cancer of unknown primary (CUP) – molecular characterisation and novel treatment strategies

CUP remains an important and challenging part of everyday oncology practice Cancers of Unknown Primary (CUP) are a widely heterogeneous group of metastatic tumours with no identifiable primary site, despite extensive diagnostic workup. They are also known as UKP (unknown primary) and MUO (malignancy of unknown origin). The median age of diagnosis is 60 years…

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CUPISCO

A phase 2 randomised study comparing the efficacy and safety of targeted therapy or cancer immunotherapy versus platinum-based chemotherapy in patients with cancer of unknown primary site (CUPISCO) CUPISCO is an ongoing phase 2 randomised controlled multicentre trial (NCT03498521), comparing the efficacy and safety of targeted therapy or immunotherapy versus standard of care platinum-based chemotherapy…

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Colorectal cancer and colorectal cancer in the young: An overview

Colorectal cancer is the commonest malignancy of the gastrointestinal tract and represents the fourth leading cause of cancer-specific mortality worldwide. In Ireland, it is the third most frequently diagnosed cancer in males (1,597 cases/year) and the fifth most frequently diagnosed cancer in females (1,104 cases/year). It is most often diagnosed after the sixth decade of…

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Immunotherapy is beneficial in gastric and oesophageal cancers, studies show

New data presented at this year’s virtual ESMO 2020 Congress have shown that immunotherapy is beneficial for patients with gastric  and  oesophageal cancers  who  currently have poor survival. Immune therapy would be a big change in treatment, since immune checkpoint inhibitors are not yet approved for early therapy in Western countries. Three studies provide evidence, based on different patient populations and different immune checkpoint…

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First new drug in over 20 years reduces recurrence in high-risk hormone receptor-positive early breast cancer

Adding abemaciclib to hormonal therapy reduces the risk of cancer recurrence by 25 per cent in patients with high-risk early hormone receptor positive (HR+) human epidermal growth factor receptor 2 negative (HER2-) breast cancer, according to results from a study at ESMO 2020. “This is the first time in more than 20 years that we have…

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An update on Covid-19 imaging

An overview of the recent guidelines and literature regarding imaging and Covid-19 As of early October 2020, the Covid-19 pandemic has infected more than 34 million people worldwide, resulting in over a million deaths. There are more than 36,000 confirmed cases in the Republic of Ireland alone with mortality close to 5 per cent. Imaging…

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