Genetic and Environmental Contributors to Neurodegeneration: An Exploration of the Effects of Alcohol on Clinical Features of Huntington's Disease Using the Enroll-HD Global Platform.

Huntington's disease (HD) is a neurodegenerative dementia with a well recognised genetic cause. Alcohol misuse is a major environmental factor relevant to numerous neurological presentations, including HD. We explored the effects of alcohol intake on clinical features of HD by means of data from the Enroll-HD, which is a global registry study. A retrospective observational study making use of the Enroll-HD periodic dataset up to 2020 (in accordance with the Enroll-HD guidelines, encompassing 16,120 subjects with the HD gene (CAG expansion > 36), was carried out. This included 180 sites in 21 countries. The study looked at the association of alcohol use with the clinical presentation of HD, specifically looking into the age of first symptoms and HD severity. We also describe a specific case with manifest HD, a participant in the Enroll-HD study, whereby the patient's obsessionality was central to her pattern of high alcohol intake and to her successful avoidance of alcohol thereafter. A record of past problems with high alcohol intake was more common in the group with manifest HD (9.0%, n = 1121) when compared with the pre-manifest carriers of the HD genetic abnormality (2.3%, n = 339). Age at onset of symptoms was not significantly influenced by current alcohol misuse, or past misuse. The severity of clinical impairments in HD was influenced by alcohol. Patients who reported high alcohol intake in the past had a statistically significant increase in motor impairments, by the Unified Huntington's Disease Rating Scale total motor score (Kruskal-Wallis, post hoc Dunn's, p < 0.001), and a significantly higher burden of psychiatric symptoms by the Problem Behaviours Assessment score (Kruskal-Wallis, post hoc Dunn's, p < 0.01) compared with those not reporting high alcohol use. However, the past alcohol group did not have a lower Mini Mental State Examination score (Kruskal-Wallis, post hoc Dunn's, p > 0.05) The first symptom of HD, as determined by the assessing clinician, was more likely to be psychiatric disturbance in patients currently misusing alcohol or those with prior history of alcohol misuse (55% and 31% respectively) when compared with controls (5%). Individual case experience, such as that presented in this study, shows that HD and alcohol, two major genetic and environmental contributors to neurodegeneration, interact in producing clinical problems. However, the complexities of these interactions are difficult to define, and may require larger studies dedicated to exploring the various factors in this interaction.

Blowing the whistle: Perceptions of surgical staff and medical students in a public South African hospital.

Whistleblowing is defined as raising a concern about wrong doing and has gained prominence in the UK National Health Service (NHS) following the publication of the Francis Report (the report of the Mid-Staffordshire NHS Foundation Trust Public Inquiry) in 2013. The report revealed that lack of diligence and a reluctance to speak out about poor practice amongst staff had contributed to increased patient morbidity and mortality. In the wake of this report, a new framework was introduced by the NHS to help workers raise concerns regarding other staff and poor working practices in general. Nevertheless, it has been suggested that this new framework has not helped to increase whistleblowing or prevented staff who do raise concerns from being penalised. Furthermore, it has been claimed that such implementations will encourage defensive medicine and reduce the willingness of staff to report concerns, despite the important role of whistleblowing in helping to prevent catastrophic events and improve care. Further research is required to understand why healthcare professionals are reticent regarding whistleblowing. Moreover, while some research in the nursing and allied health community exists, this study is important as it adds to the limited evidence amongst medical students and staff in general.