83 research outputs found
The role of preclinical models in creatine transporter deficiency: Neurobiological mechanisms, biomarkers and therapeutic development
Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong assistance. Thus, the research of novel intervention strategies is a major scientific challenge. Animal models are an excellent tool to dissect the disease pathogenetic mechanisms and drive the preclinical development of therapeutics. This review illustrates the current knowledge about Cr metabolism and CTD clinical aspects, with a focus on mainstay diagnostic and therapeutic options. Then, we discuss the rodent models of CTD characterized in the last decade, comparing the phenotypes expressed within clinically relevant domains and the timeline of symptom development. This analysis highlights that animals with the ubiquitous deletion/mutation of SLC6A8 genes well recapitulate the early onset and the complex pathological phenotype of the human condition. Thus, they should represent the preferred model for preclinical efficacy studies. On the other hand, brain-and cell-specific conditional mutants are ideal for understanding the basis of CTD at a cellular and molecular level. Finally, we explain how CTD models might provide novel insight about the pathogenesis of other disorders, including cancer
Validating the Body Uneasiness Test (BUT) in obese patients
OBJECTIVE: To investigate the psychometric properties of the Body
Uneasiness Test (BUT) in a large sample of subjects with obesity seeking treatment. BUT is a
71-item self-report questionnaire in two parts: BUT-A which measures weight phobia, body
image concerns, avoidance, compulsive self-monitoring, detachment and estrangement feelings
towards one’s own body (depersonalization); and BUT-B, which looks at specific worries
about particular body parts or functions. METHODS: We recruited a clinical sample of
1,812 adult subjects (age range 18-65 years, females 1,411, males 401) with obesity (Body
Mass Index, BMI ≥30 kg/m2) and a normal weight (BMI value between 18.5 and 25 kg/m2)
non-clinical sample of 457 adult subjects (females 248, males 209) with an Eating Attitudes
Test-26 (EAT-26) score under the cut-off point 20 (scores ≥20 indicate possible cases of eating
disorders). RESULTS: The exploratory and confirmatory analyses confirmed a structural
five-factor model for BUT-A and an eight-factor model for BUT-B. Internal consistency was
satisfactory. Concurrent validity with Binge Eating Scale (BES) and Three-Factor Eating
Questionnaire (TFEQ) was evaluated. The authors calculated mean values for BUT scores in
adult (18-65 years) patients with obesity, and evaluated the influence of gender, age and BMI.
Females obtained statistically significant higher scores than males in all age groups and in all
classes of obesity; patients with obesity, compared with normal weight subjects, generally
obtained statistically significant higher scores, but few differences could be attributed to the
influence of BMI. CONCLUSION: The BUT can be a valuable multidimensional tool for the
clinical assessment of body uneasiness in obesity; the scores of its sub-scales do not show a
linear correlation with BMI values
Comorbidades fÃsicas e psicológicas antes e depois da cirurgia bariátrica : um estudo longitudinal
Introduction: Morbid obesity has multiple implications for
psychological and physical health. Bariatric surgery has been
selected as the treatment of choice for this chronic disease,
despite the controversial impact of the surgery on psychosocial
health. The objective of this study was to describe candidates
for bariatric surgery and analyze changes in weight, psychopathology,
personality, and health problems and complaints at
6- and 12- month follow-up assessments.
Methods: Thirty obese patients (20 women and 10 men) with a
mean age of 39.17±8.81 years were evaluated in different dimensions
before surgery and 6 and 12 months after the procedure.
Results: Six and 12 months after bariatric surgery, patients
reported significant weight loss and a significant reduction in
the number of health problems and complaints. The rates of
self-reported psychopathology were low before surgery, and
there were no statistically significant changes over time. The
conscientiousness, extraversion, and agreeableness dimensions
increased, but neuroticism and openness remained unchanged.
All changes had a medium effect size.
Conclusions: Our results suggest that patients experience
significant health improvements and some positive personality
changes after bariatric surgery. Even though these findings
underscore the role of bariatric surgery as a relevant treatment
for morbid obesity, more in-depth longitudinal studies
are needed to elucidate the evolution of patients after the
procedure.Introdução: A obesidade mórbida tem várias implicações para
a saúde psicológica e fÃsica. A cirurgia bariátrica tem sido o
tratamento de escolha para essa doença crônica, apesar da
controvérsia sobre o impacto da cirurgia na saúde psicossocial.
O objetivo deste estudo foi descrever candidatos a cirurgia bariátrica e analisar mudanças no peso, psicopatologia personalidade,
problemas e queixas de saúde desses pacientes em avaliações
realizadas 6 e 12 meses após a cirurgia.
Métodos: Trinta pacientes obesos (20 mulheres e 10 homens)
com idade média de 39,17±8,81 anos foram avaliados em diferentes
dimensões antes da cirurgia e 6 e 12 meses após.
Resultados: Aos 6 e 12 meses após a cirurgia bariátrica, os
pacientes relataram significativa perda de peso e significativa
redução no número de problemas e queixas de saúde. As taxas
de psicopatologia autorrelatada foram baixas antes da cirurgia e
não sofreram mudanças significativas com o tempo. As dimensões
conscienciosidade, extroversão e agradabilidade aumentaram,
mas o neuroticismo e a abertura permaneceram inalteradas.
Todas as mudanças apresentaram um tamanho de efeito médio.
Conclusões: Os nossos resultados sugerem que os pacientes
experimentam melhoras significativas em saúde e algumas mudanças
positivas de personalidade após a cirurgia bariátrica.
Embora esses achados reforcem o papel da cirurgia bariátrica
como um tratamento relevante para a obesidade mórbida, mais
estudos longitudinais e aprofundados são necessários para elucidar
a evolução dos pacientes após a realização do procedimento.(undefined
Eating disorders in weight-related therapy (EDIT): Protocol for a systematic review with individual participant data meta-analysis of eating disorder risk in behavioural weight management
The Eating Disorders In weight-related Therapy (EDIT) Collaboration brings together data from randomised controlled trials of behavioural weight management interventions to identify individual participant risk factors and intervention strategies that contribute to eating disorder risk. We present a protocol for a systematic review and individual participant data (IPD) meta-analysis which aims to identify participants at risk of developing eating disorders, or related symptoms, during or after weight management interventions conducted in adolescents or adults with overweight or obesity. We systematically searched four databases up to March 2022 and clinical trials registries to May 2022 to identify randomised controlled trials of weight management interventions conducted in adolescents or adults with overweight or obesity that measured eating disorder risk at pre- and post-intervention or follow-up. Authors from eligible trials have been invited to share their deidentified IPD. Two IPD meta-analyses will be conducted. The first IPD meta-analysis aims to examine participant level factors associated with a change in eating disorder scores during and following a weight management intervention. To do this we will examine baseline variables that predict change in eating disorder risk within intervention arms. The second IPD meta-analysis aims to assess whether there are participant level factors that predict whether participation in an intervention is more or less likely than no intervention to lead to a change in eating disorder risk. To do this, we will examine if there are differences in predictors of eating disorder risk between intervention and no-treatment control arms. The primary outcome will be a standardised mean difference in global eating disorder score from baseline to immediately post-intervention and at 6- and 12- months follow-up. Identifying participant level risk factors predicting eating disorder risk will inform screening and monitoring protocols to allow early identification and intervention for those at risk
Eating disorders in weight-related therapy (EDIT): protocol for a systematic review with individual participant data meta-analysis of eating disorder risk in behavioural weight management
The Eating Disorders In weight-related Therapy (EDIT) Collaboration brings together data from randomised controlled trials of behavioural weight management interventions to identify individual participant risk factors and intervention strategies that contribute to eating disorder risk. We present a protocol for a systematic review and individual participant data (IPD) meta-analysis which aims to identify participants at risk of developing eating disorders, or related symptoms, during or after weight management interventions conducted in adolescents or adults with overweight or obesity. We systematically searched four databases up to March 2022 and clinical trials registries to May 2022 to identify randomised controlled trials of weight management interventions conducted in adolescents or adults with overweight or obesity that measured eating disorder risk at pre- and post-intervention or follow-up. Authors from eligible trials have been invited to share their deidentified IPD. Two IPD meta-analyses will be conducted. The first IPD meta-analysis aims to examine participant level factors associated with a change in eating disorder scores during and following a weight management intervention. To do this we will examine baseline variables that predict change in eating disorder risk within intervention arms. The second IPD meta-analysis aims to assess whether there are participant level factors that predict whether participation in an intervention is more or less likely than no intervention to lead to a change in eating disorder risk. To do this, we will examine if there are differences in predictors of eating disorder risk between intervention and no-treatment control arms. The primary outcome will be a standardised mean difference in global eating disorder score from baseline to immediately post-intervention and at 6- and 12- months follow-up. Identifying participant level risk factors predicting eating disorder risk will inform screening and monitoring protocols to allow early identification and intervention for those at risk
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