Alcohol and the affluence paradox: A secondary analysis exploring the health disparities surrounding adolescent alcohol use and alcohol related harm in adulthood

Several studies have shown social differences in alcohol consumption, and social inequalities of harm related to alcohol use and abuse. However, relationships between the position in the socio-economic spectrum, alcohol use, and alcohol-related health problems are not clear cut. While there is some evidence of social gradients or associations between indicators of deprivation and some adolescence outcomes (e.g. externalising behaviour), the evidence regarding associations between socio-economic status and alcohol-related problems in adolescence is more conflicting. A major problem in studying socio-economic inequalities in adolescent health is related to the paucity of measures of socio-economic status in adolescence that are both conceptually and methodologically sound.
The aims of this study were to investigate socio-economic differences in pathways from onset to establishment of drinking patterns in adolescence, assess the consequences of these pathways in terms of alcohol related harm, and to consider the causal mechanisms that may contribute to socio-economic differences in drinking pathways and outcomes

Cognitive deficits in first-episode psychosis: A population-based study in Sao Paulo, Brazil

Background: Studies conducted in high-income countries have reported significant cognitive deficits in first on set schizophrenia subjects relative to asymptotic controls, and it has been suggested that the severity of such deficits could be directly related to the duration of untreated psychosis (DUP). It is relevant to conduct similar studies in developing countries, given the supposedly better outcome for schizophrenia patients living in the latter environments.

Methods: We applied verbal fluency and digit span tests to an epidemiological-based series of patients with first-onset psychoses (n = 179) recruited in the city of Sao Paulo, and compared the findings with those from non-psychotic control subjects randomly selected from the same geographical areas (n=383).

Results: Psychosis subjects showed lower scores on the three tests relative to controls, with greatest between-group differences for the backward digit span task (p < 0.0001). There were no significant differences between subjects with affective and schizophreniform psychosis. Cognitive performance indices were negatively correlated with the severity of negative symptoms, but showed no relation to DUP.

Conclusion: We found significant cognitive deficits in patients investigated early during the course of psychotic disorders in an environment that is distinct from those where the subjects investigated in previous studies have been drawn from. We found no support to the hypothesis of an association between greater cognitive deficits and a longer DUP. (c) 2006 Published by Elsevier B.V.

Neuro developmental status at 1 year predicts neuropsychiatric outcome at 14-15 years of age in very preterm infants

Background: Neurodevelopmental and behavioural problems have been repeatedly reported in very preterm. survivors, often showing themselves later in childhood as poor school performance. Early identification of problems would mean that appropriate remedial therapy can be implemented. We have previously shown that neurodevelopmental status at 1 year was predictive of outcome at 8 years in a cohort of preterm. infants. The aim of this paper was to see if neurodevelopmental outcome in adolescence could be predicted by assessment by 1 year in the same cohort of pretem infants. Study design: Prospective cohort study. Subjects: 150 adolescents, born before 33 weeks gestation. Outcome measures: Neurological examination, developmental quotient, vision and hearing by 1 year. At 14-15 years, neurological examination, school performance questionnaire, Schonnell test of reading age, a premorbid adjustment score, Rutter behavioural score and for those born from 1981, cognitive tests (WISC-R). Results: A highly significant relationship existed between neurological status by 1 year and the need for extra educational provision, overall neurodevelopmental status, cognitive function in those that had their IQs measured and premorbid adjustment score of prepsychotic symptoms in adolescence. However, status at 1 year was not predictive of adolescent reading age or behavioural score. Conclusions: Neurodevelopmental assessment at 1 year ispredictive of school performance and outcome in the adolescent period. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

The Northern Ireland early onset psychosis study:Phenomenology and co-morbidity in the first 25 cases

Diagnosing psychotic disorders in young people is difficult. High rates of co-morbidity may be one reason for this difficulty, but it may also be the case that current diagnostic categories are not the most useful when approaching the care of young people with psychotic symptoms. The Northern Ireland Early Onset Psychosis Study is the first study to investigate psychotic disorders in children and adolescents in this region. Young people presenting with psychotic symptoms with onset before their 18th birthday were prospectively ascertained over a three-year period (2001-2004). Those who provided informed consent were subject to a diagnostic interview using the Kiddie-Schedule for Affective Disorders and Schizophrenia - Present and Lifetime Version. Twenty-five young people have completed the full assessment process to date. Ten young people met criteria for schizophrenia, 11 for affective psychosis, two for schizoaffective disorder and two for schizophreniform disorder. Twenty-one (80%) subjects also fulfilled criteria for at least one other DSM-IV diagnosis. In conclusion, whilst all subjects met criteria for one or other psychotic disorder, co-morbidity was common in this clinical sample. Greater awareness of the difficulties encountered when trying to reach a diagnosis in this age group may help to improve treatment outcomes.

Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish Study of High-Density Schizophrenia Families

This study was an attempt to replicate evidence for a vulnerability locus for schizophrenia and associated disorders in the 8p22-21 region reported by Pulver and colleagues.

Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families

The enzyme catechol-o-methyltransferase (COMT) transfers a methyl group from adenosylmethionine to catecholamines including the neurotransmitters dopamine, epinephrine and norepinephrine. This methylation results in the degradation of catecholamines. The involvement of the COMT gene in the metabolic pathway of these neurotransmitters has made it an attractive candidate gene for many psychiatric disorders. In this article, we reported our study of association of COMT with schizophrenia in Irish families with a high density of schizophrenia. Three single nucleotide polymorphisms (SNPs) were genotyped for the 274 such families and within-family transmission disequilibrium tests were performed. SNP rs4680, which is the functional Val/Met polymorphism, showed modest association with the disease by the TRANSMIT, FBAT and PDT programs, while the other two SNPs were negative. These SNPs showed lower level of LDs with each other in the Irish subjects than in Ashkenazi Jews. Haplotype analysis indicated that a haplotype, haplotype A-G-A for SNPs rs737865-rs4680-rs165599, was preferentially transmitted to the affected subjects. This was different from the reported G-G-G haplotype found in Ashkenazi Jews, but both haplotypes shared the Val allele. We concluded that COMT gene is associated with schizophrenia and carries a small but significant risk to the susceptibility in the Irish subjects.

Evidence-based management and intervention for autism spectrum disorders

Autism Spectrum Disorder (ASD) is diagnosed along a continuum of behavioural variants in social communication and repetitive behaviours [96]. Most individuals on the autism spectrum also experience differences in sensory perception. Some individuals on the spectrum are ‘high-functioning’ and able to cope in every day environments, while others are severely affected, non-verbal, and may have co-occurring diagnoses, such as intellectual disability, epilepsy, and/or obsessional, conduct, or mental health disorders. These individuals require substantial support, caring and careful management, and evidence-based, effective interventions.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritization. We found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy. Overall, we identified disease-causing variants in 21% of cases, with the proportion increasing to 34% (23/68) for mendelian disorders and 57% (8/14) in family trios. We also discovered 32 potentially clinically actionable variants in 18 genes unrelated to the referral disorder, although only 4 were ultimately considered reportable. Our results demonstrate the value of genome sequencing for routine clinical diagnosis but also highlight many outstanding challenges.

The role of societal norms in portion size related behaviour in Denmark and on the Island of Ireland

Purpose:
Social norms influence eating behavior, but little is known about their role in portion size-related behavior. This study
explored the role of social eating norms in Denmark (DK) and the Island of Ireland (IOI) in relation to portion size-related
behavior.

Methods:
In a survey DK (n=1063) and IOI (n=1012) respondents rated social eating norms (11 items) and portion size-related behavior
(3 items) on a 7-point scale (1=strongly disagree to 7=strongly agree). The 3 items relate to: 1) anticipating how
much will be eaten at the beginning of a meal, 2) clearing the plate, and 3) clearing the plate even when full. Sociodemographics
and eating attitudes (e.g. cognitive restraint) were measured as background variables

Results:
Two social eating factors were identified: The ‘limit intake’ norm (6 items) and the ‘plate cleaning’ norm (3 items). The
DK participants reported stronger ‘limit intake’ norms and weaker ‘plate cleaning’ norms than IOI. In both countries
females reported stronger ‘limit intake’ norms while males reported stronger ‘plate cleaning’ norms. In DK, age was
positively correlated with both social eating norm factors. The ‘limit intake’ norm had stronger association with anticipating
how much will be eaten at the beginning of a meal, but the ‘plate cleaning’ norm had stronger association with
clearing the plate. Only the ‘plate cleaning’ norm was associated with clearing the plate even when full.

Conclusions:
The social eating norms vary significantly between countries and genders. The ‘limit intake’ and ‘plate cleaning’ norms
play a role in consumers’ reported portion size-related behavior.

How hydrogen peroxide and CXCL8 modulate neutrophil recruitment "in vivo"

Tese de doutoramento, Ciências Biomédicas (Biologia Celular e Molecular), Universidade de Lisboa, Faculdade de Medicina, 2014

Microbial community composition and mercury cycling in sediments of tagus estuary

Tese de doutoramento, Farmácia (Toxicologia), Universidade de Lisboa, Faculdade de Farmácia, 2016