Articles related to Medical Genetics
People Who Live to Be 90+ with Superior Thinking Skills Found to be Resilient to Alzheimer’s Pathology in their Brains
Unveiling the Secret to Superior Cognitive Health in the Oldest-Old In a breakthrough research, an understanding of the resistance of certain 90+ individuals to neurodegenerative pathologies leading to superior cognitive abilities emerges, presenting avenues for preserving cognitive health in advanced ages. Key Points: “There are some individuals who can maintain high levels of cognitive function well into advanced ages. Further research into the factors that enable these individuals to maintain their cognitive function could provide insights into how to preserve cognitive health despite advanced age.” María M. Corrada, ScD, co-principal investigator of the study
Family Medicine/General Practice June 13th 2023
Altered Mental Status in a Man with Metabolic Syndrome
The authors speculate that pharmacogenomic testing can identify patients at higher risk for adverse events related to drug-drug and drug-gene interactions based on the 29-year-old man’s prescription list and gene testing results. Potential drug-drug interactions should also be investigated, and patients should be appropriately monitored for adverse reactions. Before performing pharmacogenomic testing, consider the severity of potential reactions, cost, and the possibility of using an alternative regimen that avoids the interaction of concern entirely. As more is learned about pharmacogenomics and the potential personalization of therapeutic regimens, clinical considerations that warrant testing should be evaluated on a regular basis to facilitate both resource stewardship and optimal patient care.
Clinical Pharmacology January 30th 2023
MKSAP Quiz: Genetic Consult for Breast Cancer Risk
A 29-year-old woman bought a genetic test that includes BRCA analysis. She comes to you with the results and asks for guidance. The results are negative for BRCA1 and BRCA2, but she has a positive family history for breast cancer. What do you advise?
Family Medicine/General Practice September 20th 2022
Four Groundbreaking Clinical Studies Worth Your Attention
A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.
Cardiology September 20th 2022
Preconception Antidiabetic Drugs in Men and Birth Defects in Offspring
Diabetes medications, such as metformin, have glucose-independent effects on the male reproductive system. However, until now, it was unknown if these effects lead to birth defects in offspring. This study concludes that metformin intake in men is associated with major birth defects, particularly genital birth defects in boys.
Endocrinology, Diabetes, Metabolism April 5th 2022
Which Med Specialties Have the Worst Lifestyles?
Let’s be honest, some medical specialties are easier than others, offering better hours at higher rates of pay and with less stress. However, for every doctor whose specialty affords them time on the golf course, there are other specialties that leave physicians trapped in a spiraling cycle of unpredictable hours, bad pay, and terrible work-life balance. How does your specialty measure up?
Allergy & Immunology December 6th 2021