Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/ehjacc/zuab059 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Human organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Instituto Neurológico de Colombia, Medellin, Antioquia, Colombia.
Background: This study examines an exceptional case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a hereditary cerebrovascular disease caused by a mutation in the notch3 gene. In contrast to typical cases manifesting before the age of 50 with migraines, this report highlights an atypical presentation in a 70-year-old woman with no history of migraines nor cognitive impairment.
Method: The patient, with a history of type 2 diabetes, hypothyroidism, and dyslipidemia, was initially treated for cognitive impairment and behavioral changes under suspicion of autoimmune encephalitis.
Background: SAAs represent a promising biomarker of Lewy Body disease (LBD), with high sensitivity (87.3%, 95%CI: 0.755-0.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Yonsei University College of Medicine, Seoul, Korea, Republic of (South).
Background: To investigate the relationship between basal forebrain (BF) cholinergic activity, dopaminergic degeneration, white matter hyperintensities (WMHs), and their effects on clinical manifestations of Alzheimer's disease (AD) and Lewy body disease (LBD).
Method: A total of 407 subjects who underwent 3-T MRI, dopamine transporter (DAT) positron emission tomography, neuropsychological tests, and assessments for parkinsonism, cognitive fluctuation (CF), visual hallucination (VH), and rapid eye movement sleep behavior disorder (RBD) were evaluated for probable AD, LBD, or both (AD+LBD). General linear models were used to investigate the relationships between BF volume (BFV), striatal DAT uptake, WMHs, and clinical manifestations after controlling for age, sex, education, vascular factors, and intracranial volume.
Biomarkers.
Alzheimers Dement
December 2024
Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
Background: Recent evidence suggests extensive myelin dysfunction in Alzheimer's Disease (AD), lending to investigation of biomarkers previously implicated in both AD and Multiple Sclerosis (MS) to find objective and obtainable diagnostic screening tools. Glial fibrillary acidic protein (GFAP), Chitinase-3-like protein 1 (CHI3L1), Chemokine (C-X-C motif) ligand 13 (CXCL13), and neurofilament light chain (Nfl) have been known to mark neuronal pathology in both diseases making them attractive markers. Retinal Optical Coherence Tomography (OCT) becomes a popular diagnostic tool in both conditions as an inexpensive and rapid way of obtaining a window into the cerebrum.
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!