Tag: Genetic Disorders
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
Computer-Based Training Studied in Children With Fragile X Syndrome
Similar improvements seen in groups receiving adaptive, nonadaptive cognitive training program
Mavoglurant Improves Visual Attention in Fragile X Syndrome
Increases noted in total absolute looking time, number of fixations to eye region while viewing faces
AI Technology IDs Genetic Diseases by Analyzing Facial Photos
DeepGestalt technology better than doctors at identifying a range of genetic syndromes
More Variants in DCM-Tied Genes in Alcoholic Cardiomyopathy
Combination of TTNtv, excess alcohol consumption linked to worse LVEF in dilated cardiomyopathy
