Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique\u2014Subtype and Stage Inference (SuStaIn)\u2014able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes; further the technique reveals within-genotype heterogeneity. In Alzheimer\u2019s disease, SuStaIn uncovers three subtypes, uniquely characterising their temporal complexity. SuStaIn provides fine-grained patient stratification, which substantially enhances the ability to predict conversion between diagnostic categories over standard models that ignore subtype (p = 7.18 7 10 124 ) or temporal stage (p = 3.96 7 10 125 ). SuStaIn offers new promise for enabling disease subtype discovery and precision medicine

The effect of kinesiotape on function, pain, and motoneuronal excitability in healthy people and people with achilles tendinopathy

MEDLINE® is the source for the MeSH terms of this document.Objective: To investigate the effect of kinesiotape on hop distance, pain, and motoneuronal excitability in healthy people and people with Achilles tendinopathy (AT). Design: Within-subject design. Setting: An academic health science center, which is an acute London National Health Service trust. Participants: With ethical approval and informed consent, a convenience sample of 26 healthy people and 29 people with AT were recruited. Seven participants were lost after functional testing, leaving 24 participants in each group. Interventions: Kinesiotape applied over the Achilles tendon. Main outcome measures: The single-leg hop test and visual analog scale were measured with and without the tape. Using the Hoffman (H) reflex, change in motoneuronal excitability of calf muscles was measured before tape application, with the tape on and after its removal. Results: There were no changes to hop distance when tape was applied (P = 0.55). Additionally, there were no changes to pain (P = 0.74). The H reflex amplitude of soleus and gastrocnemius increased in the healthy group after its removal (P = 0.01 and P = 0.03, respectively), whereas the H reflex remained unchanged in people with AT (P = 0.43 and 0.16, respectively). Conclusions: Calf muscles were facilitated by kinesiotape in healthy participants. Despite this, there was no change to hop distance. Kinesiotape had no effect on hop distance, pain, or motoneuronal excitability in people with AT. These results do not support the use of kinesiotape applied in this way for this condition.Peer reviewe

Achieving consensus and controversy around applicability of palliative care to dementia

Item does not contain fulltextBACKGROUND: People with dementia may benefit from palliative care which specifically addresses the needs of patients and families affected by this life-limiting disease. On behalf of the European Association for Palliative Care (EAPC), we recently performed a Delphi study to define domains for palliative care in dementia and to provide recommendations for optimal care. An international panel of experts in palliative care, dementia care or both, achieved consensus on almost all domains and recommendations, but the domain concerning the applicability of palliative care to dementia required revision. METHODS: To examine in detail, the opinions of the international panel of 64 experts around the applicability of palliative care, we explored feedback they provided in the Delphi process. To examine which experts found it less important or less applicable, ordinal regression analyses related characteristics of the panelists to ratings of overall importance of the applicability domain, and to agreement with the domain's four recommendations. RESULTS: Some experts expressed concerns about bringing up end-of-life issues prematurely and about relabeling dementia care as palliative care. Multivariable analyses with the two outcomes of importance and agreement with applicability indicated that younger or less experienced experts and those whose expertise was predominantly in dementia care found palliative care in dementia less important and less applicable. CONCLUSIONS: Benefits of palliative care in dementia are acknowledged by experts worldwide, but there is some controversy around its early introduction. Further studies should weigh concerns expressed around care receiving a "palliative" label versus the benefits of applying palliative care early