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The Gene Ontology (GO) provides a resource for consistent annotation of genes and gene products that is extensively used by numerous large public repositories.
Vitamin D deficiency is a global public health problem and has been associated with an increased incidence and severity of many diseases including diseases...
Our data suggest that the PDGFRA locus does not transfer a major risk of corneal astigmatism in people of Northern European ancestry.
This study examined the cross-sectional association between dietary patterns & cognition in a sample of 249 people, 65-90 years, with mild cognitive impairment
Parental occupational exposure to engine exhausts and childhood brain tumors.
Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin...
To describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.
Functional impairment is a core feature of both autism and schizophrenia spectrum disorders. While diagnostically independent, they can co-occur in the same individual at both the trait and diagnostic levels. The effect of such co-occurrence is hypothesized to worsen functional impairment. The diametric model, however, suggests that the disorders are etiologically and phenotypically diametrical, representing the extreme of a unidimensional continuum of cognition and behavior.
Having a child on the autism spectrum (AS) is known to impact caregiver quality of life (QoL), time use, and stress. A co-occurring diagnosis of intellectual disability (ID) is common among children on the autism spectrum, with ID itself impacting caregiver outcomes. This study sought to understand how co-occurring ID in children on the autism spectrum may influence caregiver-related outcomes. Secondary analysis of survey data from caregivers of 278 children on the autism spectrum with (n = 62) and without (n = 216) co-occurring ID was conducted, exploring impacts on caregiver QoL, stress, coping, and time-use.
Congenital intracranial meningiomas are rare lesions. We present a case of congenital intraventricular cystic meningioma, initially characterized with fetal MRI and confirmed postnatally with histopathology. To our knowledge, this is the first in vivo description of a congenital meningioma with fetal MRI. The fetal MRI was able to characterize the lesion as an atypical intraventricular mass which was separate from the choroid plexus, differentiating the mass from a choroid plexus neoplasm.