Articles related to GENETIC DISORDERS

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.

The presence of hypophosphatemic rickets with elevated FGF23 levels in conjunction with classical features provides crucial diagnostic insights for clinicians evaluating pediatric bone disorders.

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.

The study reveals that 10% of patients treated with eli-cel developed hematologic cancer, with an incidence rate of 2.1 per 100 person-years. This finding emphasizes the need for careful monitoring and risk assessment in gene therapy approaches.

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.