domingo, 1 de octubre de 2023

An interpretable deep learning framework for predicting liver metastases in postoperative colorectal cancer patients using natural language processing and clinical data integration. Jia Li et al. Cancer Med 2023

https://phgkb.cdc.gov/PHGKB/translationClip.action?action=nonGhome

Lack of Standardization Across MDx Infectious Disease Tests Could Undermine Pandemic Preparedness Bonislawski A. GenomeWeb, Sep 13, 2023.

https://phgkb.cdc.gov/PHGKB/amdClip.action?action=home

Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable? Martina Ricci et al. Ann Neurol 2023

https://phgkb.cdc.gov/PHGKB/translationClip.action?action=home

Cost-Effectiveness Analysis in Public Health Genomics and Precision Health: Recent Findings, Methodologic Issues, and the Path Forward

Cost-Effectiveness Analysis in Public Health Genomics and Precision Health: Recent Findings, Methodologic Issues, and the Path Forward October 26, 2023, 11:00 am – 12:00 pm ET https://www.cdc.gov/genomics/events/cost_effectiveness_2023.htm

Muscular Dystrophy

https://www.cdc.gov/ncbddd/musculardystrophy/index.html Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life. https://www.cdc.gov/ncbddd/spanish/musculardystrophy/index.html

Sickle Cell Disease (SCD)

https://www.cdc.gov/ncbddd/sicklecell/index.html Sickle cell disease (SCD) is a group of inherited red blood cell disorders. In SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle.” People with SCD can live full lives and enjoy most of the activities that other people do. If you have SCD, it’s important to learn how to stay as healthy as possible. https://www.cdc.gov/ncbddd/spanish/sicklecell/index.html

Familial Hypercholesterolemia

Familial Hypercholesterolemia Familial hypercholesterolemia (FH) is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age. https://www.cdc.gov/genomics/disease/fh/FH.htm

Heart Disease, Family Health History, and Familial Hypercholesterolemia

https://www.cdc.gov/genomics/disease/fh/index.htm Having a family health history of heart disease makes you more likely to develop heart disease yourself. In some cases, having family members with heart disease at a young age (age 50 or younger) can be a sign of familial hypercholesterolemia, a genetic disorder that causes high cholesterol. Take time to collect your family health history of heart disease and share this information with your doctor and other family members. Your doctor can help you take steps to lower your chances of having heart disease.