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Criterion validity of five open-source app-based cognitive and sensory tasks in an Australian adult life course sample aged 18 to 82: Labs without walls.
Behav Res Methods
January 2025
School of Psychology, University of New South Wales, Sydney, Australia.
With recent technical advances, many cognitive and sensory tasks have been adapted for smartphone testing. This study aimed to assess the criterion validity of a subset of self-administered, open-source app-based cognitive and sensory tasks by comparing test performance to lab-based alternatives. An in-person baseline was completed by 43 participants (aged 21 to 82) from the larger Labs without Walls project (Brady et al.
View Article and Find Full Text PDFThe Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFD,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).
JIMD Rep
January 2025
Adult and Paediatric National Metabolic Service Starship Children's Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand Tāmaki Makaurau Auckland New Zealand.
Background: Deficiency of the Glut1 transporter due to mono-allelic variants in causes hypoglycorrhachia, resulting in a neurological spectrum from neonatal epilepsy to adult-onset paroxysmal movement disorders (PMD). The brain utilises ketone bodies as an alternative energy source to glucose. Thus, early initiation of the ketogenic diet (KD) is standard care for Glut1 deficiency syndrome (Glut1DS).
View Article and Find Full Text PDFOxytocin levels in response to CRH administration in hypopituitarism and hypothalamic damage: a randomized, crossover, placebo-controlled trial.
Sci Rep
January 2025
Department of Endocrinology and Nutrition, Hospital de la Santa Creu i Sant Pau, IR-SANT PAU, CIBERER-U747 ISCIII, ENDO-ERN, Barcelona, Spain.
Increasing evidence supports the presence of oxytocin deficiency (OXT-D) in patients with hypopituitarism and hypothalamic damage (HHD), that might be associated with neuropsychological deficits and sexual dysfunction, leading to worse quality of life (QoL). Therefore, identifying a provocative test to diagnose an OXT-D will be important. Corticotropin-releasing hormone (CRH) is a candidate for such a test as it increases oxytocin secretion in animal models.
View Article and Find Full Text PDFChapter 2: PRIMARY HYPERPARATHYROIDISM: DIAGNOSIS.
Ann Endocrinol (Paris)
January 2025
University of Brest, CHU Brest, UMR1304 GETBO, 29200 Brest, France; Endocrinology and Diabetology Department, CHU Brest, 29200 Brest, France.
Primary hyperparathyroidism is now predominantly an asymptomatic pathology, as blood calcium assay has become systematic. Diagnosis therefore requires screening for target organ damage when this is not already indicative of primary hyperparathyroidism.Classical clinical manifestations include bone, kidney and muscle signs, and are characterized by reversibility after parathyroid surgery.
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