Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5935/0004-2749.202200103 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.
Biomolecules
December 2024
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.
View Article and Find Full Text PDFClinical and genetic characterization of patients with late onset Wilson's disease.
NPJ Genom Med
December 2024
Experimental Center of Clinical Research, the First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Wilson's disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset forms. In this study, we performed a retrospective cohort study of 105 WD patients (99 index cases, 6 siblings) with an onset age ≥35 years. We compared 99 index late-onset patients with 1237 early-onset patients and analyzed the ATP7B variant penetrance referring to the Genome Aggregation Database (gnomAD).
View Article and Find Full Text PDFComparison of Plasma p-tau217 and [F]FDG-PET for Identifying Alzheimer Disease in People With Early-Onset or Atypical Dementia.
Neurology
January 2025
Translational Neuroimaging Laboratory, The McGill University Research Centre for Studies in Aging, McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Background And Objectives: To compare the diagnostic performance of an immunoassay for plasma concentrations of phosphorylated tau (p-tau) 217 with visual assessments of fluorine-18 fluorodeoxyglucose [F]FDG-PET in individuals who meet appropriate use criteria for Alzheimer dementia (AD) biomarker assessments.
Methods: We performed a retrospective analysis of individuals with early-onset (age <65 years at onset) and/or atypical dementia (features other than memory at onset), who were evaluated at a tertiary care memory clinic. All participants underwent measurements of CSF biomarkers (Aβ42, p-tau181, and total tau levels), as well as [F]FDG-PET scans, amyloid-PET scans, and plasma p-tau217 quantifications.
Longitudinal cognitive performance of participants with sporadic early onset Alzheimer's disease from LEADS.
Alzheimers Dement
December 2024
Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Introduction: Early-onset Alzheimer's disease (EOAD) manifests prior to the age of 65, and affects 4%-8% of patients with Alzheimer's disease (AD). The current analyses sought to examine longitudinal cognitive trajectories of participants with early-onset dementia.
Methods: Data from 307 cognitively normal (CN) volunteer participants and those with amyloid-positive EOAD or amyloid-negative cognitive impairment (EOnonAD) were compared.
White matter changes in paediatric bipolar disorder: A systematic review of diffusion magnetic resonance imaging studiesA systematic review of diffusion magnetic resonance imaging studies.
J Affect Disord
December 2024
Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Background: Paediatric bipolar disorder (PBD) is characterized by severe mood fluctuations that deviate from typical childhood emotional development. Despite the efforts, the pathophysiology of this disorder is not well understood yet. In this review, we aimed to synthesize existing diffusion magnetic resonance imaging (dMRI) research findings in PBD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!