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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFImplementation of a program to strengthen oral hygiene in patient with cleft deformities: a prospective randomized controlled clinical trial.
Trials
January 2025
INSERM, Regenerative Medicine and Skeleton, RMeS, CHU Nantes, Nantes Université, UMR 1229, Nantes, 44000, France.
Background: Cleft lip and/or palate is the most common congenital orofacial deformity, affecting 1/800 births. A thorough review of the literature has shown that children with cleft have poorer oral hygiene and dental health than other children, with higher levels of caries in both temporary and permanent teeth and poorer periodontal health. Cleft patients are treated by a multidisciplinary team that aims to provide comprehensive care from pre- or post-natal diagnosis to early adulthood and the end of growth.
View Article and Find Full Text PDFSuprachoroidal injection of triamcinolone acetonide as adjuvant to surgical treatment of epiretinal membrane.
Int J Retina Vitreous
January 2025
Eye Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, 25121, Brescia, Italy.
Background: To analyse the effect of suprachoroidal injection (SChI) of triamcinolone acetonide (TA) on macular thickness (CRT), ectopic inner foveal layer thickness (EIFL-T) and best corrected visual acuity (BCVA) in pseudophakic patients undergoing vitrectomy for epiretinal membrane (iERM) compared to intravitreal injection of TA (IVTA).
Methods: Prospective matched comparison of patients undergoing vitrectomy for Govetto stage 3 and 4 iERM. 25 eyes receiving IVTA (G-1) were compared to 23 eyes receiving SChI-TA (G-2) during vitrectomy.
SMAC-armed oncolytic virotherapy enhances the anticancer activity of PD1 blockade by modulating PANoptosis.
Biomark Res
January 2025
Department of Hematology and Medical Oncology, Emory University, 201 Dowman Dr, Atlanta, GA, 30322, USA.
Background: Oncolytic viruses (OVs) are increasingly recognized as promising tools for cancer therapy, as they selectively infect and destroy tumor cells while leaving healthy cells unharmed. Despite considerable progress, the limited therapeutic efficacy of OV-based virotherapy continues to be a significant challenge in cancer treatment.
Methods: The SMAC/DIABLO gene was inserted into the genome of vesicular stomatitis virus (VSV) to generate VSV-S.
Plasma S100β is a predictor for pathology and cognitive decline in Alzheimer's disease.
Fluids Barriers CNS
January 2025
Sanders-Brown Center on Aging, College of Medicine, University of Kentucky, 760 Press Ave, 124 HKRB, Lexington, KY, 40536-0679, USA.
Background: Blood-brain barrier dysfunction is one characteristic of Alzheimer's disease (AD) and is recognized as both a cause and consequence of the pathological cascade leading to cognitive decline. The goal of this study was to assess markers for barrier dysfunction in postmortem tissue samples from research participants who were either cognitively normal individuals (CNI) or diagnosed with AD at the time of autopsy and determine to what extent these markers are associated with AD neuropathologic changes (ADNC) and cognitive impairment.
Methods: We used postmortem brain tissue and plasma samples from 19 participants: 9 CNI and 10 AD dementia patients who had come to autopsy from the University of Kentucky AD Research Center (UK-ADRC) community-based cohort; all cases with dementia had confirmed severe ADNC.
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