Results 161 to 170 of about 78,021 (259)

Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali, Priyanka Menon, Halil I. Corbali, Ram Jagannathan, Allan I. Levey   +4 more
wiley   +1 more source

Preoperative brain injury and neurodevelopmental outcomes in syndromic and non-syndromic children with complex congenital heart disease: a single-centre cohort study. [PDF]

Eur J Pediatr
Paolin C, Pozza A, Ancona C, Mezzalira L, Cogo P, Di Salvo G, Padalino M, Scattolin F, Vida V, Sartori S, Manara R.   +10 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation. [PDF]

Mol Genet Genomic Med
Li X, Wang X, Liu X, Wang S, Yang W.
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension. [PDF]

Clin Genet
Aldalaan A, Nadeef S, Khouj E, Alahmadi F, Aljamal B, Alturaif N, Alharbi N, Abdulwahab F, Alqahtani M, Alzubi F, Abuyousef O, Hashem MO, Zaytoun H, Alhamoud H, Alshidi T, Jaafar A, Alabdi L, Alkuraya FS.   +17 more
europepmc   +1 more source

“Low‐Positive” MOG‐IgG Cases Among Adults With a First Event Suggestive of Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the prevalence and clinical characteristics of patients with “low‐positive” (LP) MOG‐IgG (titres 1:160–1:320) among adults with a first demyelinating event (FDE) suggestive of multiple sclerosis (MS). Methods From the Barcelona CIS inception cohort, we included adult patients with serum collected ≤ 6 months from the FDE.
Javier Villacieros‐Álvarez, Carmen Espejo, Georgina Arrambide, Mireia Castillo, Marta Rodriguez, Helena Ariño, Iker Elosua, Carmen Tur, Angela Vidal‐Jordana, Andreu Vilaseca, Joaquín Castilló, Ingrid Galán, Luciana Midaglia, Carlos Nos, Breogan Rodríguez‐Acevedo, Ana Zabalza, Luca Bollo, Agustín Pappolla, René Carvajal, Neus Mongay‐Ochoa, Jordi Rio, Jaume Sastre‐Garriga, Manuel Comabella, Gesualdina Busiello, Sofia Sceppacuercia, Àlex Rovira, Xavier Montalban, Mar Tintoré, Cristina Auger, Álvaro Cobo‐Calvo   +29 more
wiley   +1 more source

A Novel Loss-of-Function Variant in <i>TGFBI</i> Associated with Non-Syndromic Orofacial Clefts in a Chinese Pedigree. [PDF]

Genes (Basel)
Hou S, Li S, Wang X, Zhang S, Lu Y, Zhang T, Zhou Z, Huang W, Wang X, Han B, Zhang J.   +10 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Speech Intelligibility and Perceived Listening Effort in Children With Cleft Palate: A Comparison Between Non-Syndromic and Selected Syndromic Conditions. [PDF]

Int J Lang Commun Disord
Hosseinabad HH, Xing Y.
europepmc   +1 more source