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The New England Journal of Medicine
The presence of hypophosphatemic rickets with elevated FGF23 levels in conjunction with classical features provides crucial diagnostic insights for clinicians evaluating pediatric bone disorders.
Medical Genetics November 27th 2024
Cleveland Clinic Journal of Medicine
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.
Gastroenterology October 28th 2024
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.
Hematology/Oncology October 17th 2024
Medical Xpress
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.
Cardiology August 21st 2024
In a phase 3 trial involving 103 pediatric patients with congenital adrenal hyperplasia, crinecerfont treatment resulted in a mean reduction of androstenedione levels by 197 ng/dL after 4 weeks, compared to an increase of 71 ng/dL in the placebo group.
Endocrinology, Diabetes, Metabolism August 21st 2024