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Tag: Genetics

ENDO: Crinecerfont Aids Patients With Congenital Adrenal Hyperplasia

Crinecerfont results in greater decrease from baseline in mean daily glucocorticoid dose among patients with CAH

Individuals With BAP1 Have High Rate of Nail Abnormalities

Almost all patients with nail involvement had polydactylous involvement with onychopapillomas

Male, Female V1421 Carriers Face Similar Risk for Heart Failure Hospitalization

Carriers face similar and substantial risk for heart failure hospitalization, mainly with reduced ejection fraction

Novel Genetic Loci ID’d for Hypertension in European Ancestry

Clinically meaningful differences in BP and increased HTN risk seen in top versus bottom decile of polygenic risk scores

GWAS Identifies 108 Independent Risk Loci for Kidney Cancer

Validated polygenic risk score generated, with area under the curve of 0.65 among European ancestry individuals

Recombinant ADAMTS13 Effective, Safe in Congenital Thrombotic Thrombocytopenic Purpura

Treatment had few adverse events and increased ADAMTS13 activity versus standard therapy

Healthy Lifestyle Can Overcome Genetic Predisposition to Premature Death

Optimal healthy lifestyles include never smoking, regular physical activity, adequate sleep duration, and a healthy diet

Patient Gets First-Ever Pig Kidney Transplant Plus Heart Pump

By Dennis Thompson HealthDay Reporter WEDNESDAY, April 24, 2024 (HealthDay News) -- New Jersey native Lisa Pisano was staring down the end of her days.The...

New Prostate Cancer Urine Test Has High Diagnostic Accuracy

Higher AUROC seen for 18-gene MPS2 model compared with current guideline-endorsed biomarkers

Heritability for Autism Spectrum Disorder Varies for Males and Females

Difference in heritability estimated at 11.3 percent, with higher heritability for males than females