Publications by authors named "Jessica Gabriel"

Introduction: Post-traumatic stress disorder and substance use disorders commonly co-occur and are associated with worse health outcomes. Currently, only psychosocial therapies are specifically recommended for use in the co-occurring population, but these come with numerous barriers to access and engagement. This study aims to identify potential pharmacological treatments to enhance treatment options and outcomes for this population.

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Purpose: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, and costs.

Methods: An observational study in an area representing one-fifth of England.

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What Is Known On The Subject: Research suggests that the Dynamic Appraisal of Situational Aggression (DASA) is a useful risk assessment instrument to identify individuals who might be at risk of aggression in mental health inpatient units. Although, risk assessment research has typically focused on an individual's risk of aggression, recent research has begun exploring whether the DASA could be used to assess the likelihood that a group of patients would be aggressive.

What The Paper Adds To Existing Knowledge: While the DASA was useful for assessing whether an individual was likely to be aggressive, the group average score was not a useful indicator for the likelihood of aggression once the individual DASA score was taken into consideration.

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Background And Aim: Serrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG) guidelines advise gene panel testing if the patient is under 50 years, there are multiple affected individuals within a family, or there is dysplasia within any of the polyps.

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Importance: Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined.

Observations: Whole-exome sequencing identified a novel, heterozygous p.(Gly671Trp) mutation in the AFG3L2 gene encoding an mt protease--previously associated with dominant spinocerebellar ataxia type 28 disease--in a patient with indolent ataxia and PEO.

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