School of Medicine: Recent submissions
Now showing items 921-940 of 3444
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
(2020)We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, ... -
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
(2021)NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism ... -
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders:A Review of the Literature
(2020)Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are ... -
The role of rare compound heterozygous events in autism spectrum disorder.
(2020)The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity ... -
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
(2020)Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug ... -
Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure
(2020)Neuroimaging has been extensively used to study brain structure and function in individuals with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) over the past decades. Two of the main ... -
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
(2021)NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different ... -
The altered immune microenvironment of human liver in metastatic disease
(Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2020)Globally, metastatic colon cancer is a significant disease with poor outcomes. Liver metastases are the leading cause of death and, despite maximal medical management, recurrent metastases are seen in up to 70% of patients ... -
USI National Report on Student Mental Health in Third Level Education
(2019)Third level education is a key life transition and can be an extremely stressful time for students. We already know that levels of mental illness, mental distress and low wellbeing among students in Higher Education is ... -
Mental Health and Disability at Third Level: Findings from a national study on student mental health
(2020)In 2018 the Union of Students in Ireland (USI) undertook a study to provide an overview of students’ mental health experience in third level education across the island of Ireland (Price, A. and Smith, HA. 2019). The ... -
Risk factors for Respiratory Syncytial Virus Bronchiolitis Admission
(2020)Aim: Determine the seasonal incidence of hospital Respiratory Syncytial Virus (RSV) bronchiolitis and explore the variables associated with admission to ward versus the Paediatric Intensive Care Unit (PICU). Method: ... -
Associations between cognitive function, actigraphy-based and self-reported sleep in older community-dwelling adults: Findings from the Irish Longitudinal Study on Ageing
(Wiley, 2020)Objective: Cognitive impairment is prevalent in older ages. Associations with sleep are well established; however, ambiguity remains in which sleep characteristics contribute to this impairment. We examined cross-sectional ... -
Discrepancies in self-reported and actigraphy-based sleep duration are associated with self-reported insomnia symptoms in community-dwelling older adults
(2021)Objectives: To establish agreement between self-reported and actigraphy-based total sleep time (TST). To determine the impact of self-reported sleep problems on these measurements. Design: Cross-sectional study using data ... -
The development of outcome key performance indicators for systemic anti-cancer therapy using a modified Delphi method
(2020)Objective: Performance measurement of health services informs safe, quality care. Key performance indicators (KPIs) offer one such measurement. Limited research exists on outcome KPIs in systemic anti‐cancer therapy ... -
The Effects of Different Smoking Patterns in Pregnancy on Perinatal Outcomes in the Southampton Women's Survey
(2020)Maternal smoking during pregnancy has established associations with poor perinatal outcomes. Among continuing pregnant smokers, harm-reduction strategies have been suggested, including temporary cessation of smoking during ... -
On the Genotype and Phenotype of inherited retinal degenerations in an irish popultion
(Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2021)Aim: To elucidate the molecular diagnosis and perform deep phenotyping on patients with inherited retinal degenerations (IRDs) Methods: Patients were identified through self-referral or referral by an ophthalmologist ... -
Examining the impact of a social prescribing service on the health & wellbeing of individuals living with and beyond cancer
(Trinity College Dublin. School of Medicine. Discipline of Occupational Therapy, 2020)Social prescribing is a community-based intervention that supports individuals with health needs and chronic conditions to access activities supports in their community. Due to medical improvements, more people than ever ... -
Clinical clustering of eight orthostatic haemodynamic patterns in The Irish Longitudinal Study on Ageing (TILDA)
(Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2021)INTRODUCTION: Orthostatic hypotension (OH) can be assessed with non-invasive continuous beat-to-beat haemodynamic monitoring during active stand (AS) testing; this yields large volumes of data outside the scope of the ... -
Ifosfamide-induced encephalopathy: the EEG with frontal intermittent delta activity, and rapid resolution with methylene blue: A case report.
(2020)Background: Encephalopathy is an established side effect of the chemotherapeutic agent, ifosfamide, occurring in 10-30% of cases. The EEG commonly shows non-specific features of encephalopathy, and rarely shows frontal ... -
Using Co-Design to Develop a Collective Leadership Intervention for Healthcare Teams to Improve Safety Culture
(2018)While co-design methods are becoming more popular in healthcare; there is a gap within the peer-reviewed literature on how to do co-design in practice. This paper addresses this gap by delineating the approach taken in the ...
