Articles related to GENETIC DISORDERS

The constant presence of pain affects every aspect of daily living, with minimal friction causing severe blistering and requiring multiple daily wound care interventions across numerous body sites.

CDC data indicates heart disease prevalence increases dramatically with age, from 1% in adults aged 18-44 to 20% in those over 65, highlighting the importance of early screening for inherited conditions.

Poor metabolizers of UGT1A1 face a significantly increased risk of severe neutropenia from irinotecan therapy, making genetic testing crucial for appropriate dose modification.

Bevacizumab therapy demonstrated marked improvement in both epistaxis severity and abdominal symptoms, despite unchanged radiographic appearance of hepatic AVMs, suggesting therapeutic benefit at the microvasculature level.

Yale researchers have developed an AI model capable of diagnosing Marfan syndrome from facial photographs with 98.5% accuracy, potentially enabling earlier intervention for this life-threatening genetic disorder.