Tag: Genetic Disorders
First Drug Approved to Treat Rare Metabolic Disorder
Oxlumo granted approval to treat primary hyperoxaluria type 1
Vosoritide Aids Bone Growth in Children With Dwarfism
Compared with placebo, vosoritide increased growth velocity to near-normal annual rate
Plasma Caffeine Concentration Lower in Parkinson Disease
Results similar for caffeine metabolites and non-xanthine marker for coffee consumption in plasma
Expressive Language Sampling Feasible in Fragile X Syndrome
Evidence of convergent construct validity seen for measures of vocabulary, syntax, unintelligibility
Treatment for Hereditary Breast Cancer Not Always Guideline-Concordant
Treatment seems less in line with practice guidelines, particularly for radiation therapy and chemotherapy
New Guidance Issued for Care of Children With Williams Syndrome
Children with WS should be evaluated by a pediatric cardiologist, undergo psychoeducational evaluation
Liposuction Benefits Women With Lipedema
Most wait years for diagnosis and have other health issues, often an underactive thyroid gland
Multigene Testing for All Breast Cancer Patients Cost-Effective
Findings support expansion of genetic testing to all women with breast cancer
More Aggressive Tx Needed for Familial Hypercholesterolemia
Even with care in specialty clinics, LDL cholesterol levels remain above targets for most patients
Cell-Free DNA Testing IDs Trisomy 21 in Twin Pregnancies
Performance of cfDNA test for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies
