Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations DOI Creative Commons
Carl E. Stafstrom, Li‐Rong Shao

Children, Journal Year: 2024, Volume and Issue: 11(12), P. 1513 - 1513

Published: Dec. 13, 2024

Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome unclear. In general, neuronal excitability and therefore seizure predisposition results from an imbalance of excitation over inhibition neurons neural networks brain. Animal models provide clues thereby potential therapeutic approaches. Ts65Dn mice have been most widely used animal model DS. model, there is evidence for both abnormal cerebral inhibition: infantile spasms-like clinical electrographic activity can be elicited administration gamma-aminobutyric acid (GABA)-B receptor agonist, gamma-butyrolactone (GBL), depolarizing GABA-A responses persist beyond age their usual switch hyperpolarized responses. But despite its widespread use, may suboptimal because absence numerous genes that triplicated human presence not Recently, a transchromosomic mouse artificial chromosome 21 (TcMAC21) has developed, carries copy genetic composition more similar As mice, exposure TcMAC21 GBL epileptic spasms, aberrant also demonstrated. This review summarizes excitatory inhibitory dysfunction play role generation seizures providing perspective on past studies prelude future ones. Further elucidation will hopefully lead rational options children with spasms.

Language: Английский

Blood DNA methylation in post-acute sequelae of COVID-19 (PASC): a prospective cohort study DOI Creative Commons
Joseph Balnis, Andy Madrid, Lisa A. Drake

et al.

EBioMedicine, Journal Year: 2024, Volume and Issue: 106, P. 105251 - 105251

Published: July 17, 2024

Language: Английский

Citations

5
Decoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease DOI
Christopher M. Stark,

Brian N. Hughes,

John P. Schacht

et al.

NeoReviews, Journal Year: 2025, Volume and Issue: 26(2), P. e73 - e88

Published: Feb. 1, 2025

Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies variable embryologic and molecular origins. A basic understanding the genetics implicated in nonsyndromic (isolated) syndromic structural CHD can better inform management decisions family counseling. When fetus or neonate develops as result genetic cause, it be due to mutation monogenic, oligogenic, polygenic pathogenic variant. In this review, we summarize embryology context signaling pathways proteins that are commonly CHD. We also provide an overview evaluation infants with common

Language: Английский

Citations

0
DNA methylation biomarkers of intellectual/developmental disability across the lifespan DOI Creative Commons
Janine M. LaSalle

Journal of Neurodevelopmental Disorders, Journal Year: 2025, Volume and Issue: 17(1)

Published: Feb. 19, 2025

Abstract Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond adapt dynamic during lifespan an individual. Genome-wide methylation analyses on wide range human biospecimens are beginning identify epigenetic biomarkers that can predict risk intellectual/developmental disabilities (IDD). methylation-based signatures becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While marks differ tissue source, recent studies have shown accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, cell free may serve surrogate tissues for testing relevant understanding genetic, environmental, gene interactions developing brain. These also provide important information about biological pathways become dysregulated prior disease progression could be used develop early pharmacological interventions. Future applications involve preventative screenings using pregnancy or period IDDs other neurodevelopmental disorders. adolescence adulthood likely tracking aging co-occurring health conditions across lifespan. In conclusion, expected more common clinical diagnoses IDD, improve complex IDD etiologies, endpoints trials, monitor potential concerns individuals with they age.

Language: Английский

Citations

0
High Altitude Exposure and the Birth Prevalence of Congenital Anomalies in Newborns with Down Syndrome DOI
Daniel Linares,

Beatriz Luna Barrón,

Edson Loayza

et al.

Published: Jan. 1, 2025

Language: Английский

Citations

0
High altitude exposure and the birth prevalence of congenital anomalies in newborns with Down syndrome DOI
Daniel Linares, Beatriz Luna,

Edson Loayza

et al.

Early Human Development, Journal Year: 2025, Volume and Issue: 205, P. 106270 - 106270

Published: April 23, 2025

Language: Английский

Citations

0
Methods in DNA methylation array dataset analysis: A review DOI Creative Commons

Karishma Sahoo,

Vino Sundararajan

Computational and Structural Biotechnology Journal, Journal Year: 2024, Volume and Issue: 23, P. 2304 - 2325

Published: May 17, 2024

Understanding the intricate relationships between gene expression levels and epigenetic modifications in a genome is crucial to comprehending pathogenic mechanisms of many diseases. With advancement DNA Methylome Profiling techniques, emphasis on identifying Differentially Methylated Regions (DMRs/DMGs) has become for biomarker discovery, offering new insights into etiology illnesses. This review surveys current state computational tools/algorithms analysis microarray-based methylation profiling datasets, focusing key concepts underlying diagnostic/prognostic CpG site extraction. It addresses methodological frameworks, algorithms, pipelines employed by various authors, serving as roadmap address challenges understand changing trends methodologies analyzing array-based datasets derived from diseased genomes. Additionally, it highlights importance integrating accurate identification, explores prognostic prediction models, discusses molecular subtyping disease classification. The also emphasizes contributions machine learning, neural networks, data mining enhance diagnostic workflow development, thereby improving accuracy, precision, robustness.

Language: Английский

Citations

3
Females with autism spectrum disorders show stronger DNA methylation signatures than males in perinatal tissues DOI Creative Commons
Julia S. Mouat, Nickilou Y. Krigbaum, Sophia M. Hakam

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: July 13, 2024

Autism spectrum disorder

Language: Английский

Citations

0
Bioinformatics in Neonatal/Pediatric Medicine—A Literature Review DOI Open Access
Dimitrios Rallis,

Maria Baltogianni,

Konstantina Kapetaniou

et al.

Journal of Personalized Medicine, Journal Year: 2024, Volume and Issue: 14(7), P. 767 - 767

Published: July 18, 2024

Bioinformatics is a scientific field that uses computer technology to gather, store, analyze, and share biological data information. DNA sequences of genes or entire genomes, protein amino acid sequences, nucleic acid, protein–nucleic complex structures are examples traditional bioinformatics data. Moreover, proteomics, the distribution proteins in cells, interactomics, patterns interactions between acids, metabolomics, types small-molecule transformations by biochemical pathways further streams. Currently, objectives integrative, focusing on how various combinations might be utilized comprehend organisms diseases. Bioinformatic techniques have become popular as novel instruments for examining fundamental mechanisms behind neonatal In first few weeks newborn life, these methods can conjunction with clinical identify most vulnerable neonates gain better understanding certain mortalities, including respiratory distress, bronchopulmonary dysplasia, sepsis, inborn errors metabolism. current study, we performed literature review summarize application medicine. Our aim was provide evidence could supply insights into underlying mechanism pathophysiology used an early diagnostic tool care.

Language: Английский

Citations

0
Genome-wide association studies of Down syndrome associated congenital heart defects DOI Creative Commons
E. Feldman, Yunqi Li, David J. Cutler

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 6, 2024

Congenital heart defects (CHDs) are the most common structural birth defect and present in 40-50% of children born with Down syndrome (DS). To characterize genetic architecture DS-associated CHD, we sequenced genomes a multiethnic group DS CHD (n=886: atrioventricular septal (AVSD), n=438; atrial (ASD), n=122; ventricular (VSD), n=170; other types n=156) structurally normal (DS+NH, n=572). We performed four GWAS for variants (MAF>0.05) comparing stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci each analysis suggestive significance (p<2×10

Language: Английский

Citations

0
Whole genome methylation sequencing in blood from persons with mild cognitive impairment and dementia due to Alzheimer's disease identifies cognitive status DOI Creative Commons
Andy Madrid, Ligia A. Papale,

Phillip E. Bergmann

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 27, 2024

Whole genome methylation sequencing (WGMS) in blood identifies differential DNA persons with late-onset dementia due to Alzheimer's disease (AD) but has not been tested mild cognitive impairment (MCI).

Language: Английский

Citations

0