Publications by authors named "E Boot"

Objective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.

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Article Synopsis
  • The study investigated the prevalence of obesity and metabolic syndrome (MetS) in 103 adults with a specific genetic condition (microdeletion 22q11.2), finding significantly higher rates of both compared to the general population.* -
  • Among the participants, 32% had generalized obesity, 51.5% had abdominal obesity, and 33% had MetS, with these numbers contrasting sharply with population-based statistics.* -
  • Age was identified as a key factor influencing obesity and MetS outcomes, with older age correlating positively with higher BMI and waist circumference, particularly in individuals not using antipsychotic medications.*
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Introduction: Reduced white matter integrity outside the stroke lesion may be a potential contributor of post-stroke cognitive impairment. We aimed to investigate how a stroke lesion affects the integrity of surrounding white matter, and whether the integrity of the non-lesioned part of white matter tracts is associated with cognitive performance after ischemic stroke in young adults.

Methods: Patients from the ODYSSEY study, aged 18-49 years, with a first-ever ischemic stroke, underwent 3T MRI and cognitive assessment within six months after the index event.

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Background: 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology.

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Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary approach. The aim was to investigate the reporting of genetic diagnoses in multidisciplinary ID care and to identify associated clinical and demographic factors.

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