jueves, 28 de marzo de 2024

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

https://pubmed.ncbi.nlm.nih.gov/37024676/ From the abstract: "Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene–environment interactions. "

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows

https://www.mdpi.com/2409-515X/10/2/27 From the abstract: "The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. "

Applications of genome sequencing as a single platform for clinical constitutional genetic testing

https://www.sciencedirect.com/science/article/pii/S2949774424009865 From the abstract: "The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing. "

Deep learning in cancer genomics and histopathology

https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-024-01315-6 From the abstract: " Histopathology and genomic profiling are cornerstones of precision oncology and are routinely obtained for patients with cancer. Traditionally, histopathology slides are manually reviewed by highly trained pathologists. Genomic data, on the other hand, is evaluated by engineered computational pipelines. In both applications, the advent of modern artificial intelligence methods, specifically machine learning (ML) and deep learning (DL), have opened up a fundamentally new way of extracting actionable insights from raw data, which could augment and potentially replace some aspects of traditional evaluation workflows. "

Leveling Up: Using Multilevel Interventions To Address Whole Person Health March 25, 2024 Jenny Baumgartner Jennifer Baumgartner, Ph.D.

https://www.nccih.nih.gov/research/blog/leveling-up-using-multilevel-interventions-to-address-whole-person-health?nav=govd

miércoles, 27 de marzo de 2024

Exercise could be the cure to your insomnia

https://www.news-medical.net/news/20240327/Exercise-could-be-the-cure-to-your-insomnia.aspx In a recent study published in the journal BMJ Open, an international team of researchers conducted a longitudinal study over 10 years to understand the association between physical activity and sleep duration, daytime sleepiness, and current insomnia symptoms in adults.

“A randomized double-blinded trial to assess recurrence of systemic allergic reactions following COVID-19 mRNA vaccination”

https://www.sciencedirect.com/science/article/pii/S0091674924002367?utm_campaign=+59950531&utm_content=&utm_medium=email&utm_source=govdelivery&utm_term= A small NIAID clinical trial has found that receiving second and booster doses of a COVID-19 mRNA vaccine under medical supervision was safe for people who reported a systemic allergic reaction to their first dose. After revaccination, 12.5% of study participants had a systemic allergic reaction, while 62.5% had a non-allergic reaction that mimics anaphylaxis and is called Immunization Stress-Related Response (ISRR). These findings highlight the opportunity to assess and manage pre-vaccination anxiety to reduce ISRR. The results are published in the Journal of Allergy and Clinical Immunology.