Genetics

Reports of high-impact genetics studies by medical professionals

New genetic link in pulmonary arterial hypertension holds therapeutic promise

Image: PD 1. A new link has been found between KCNK3 gene mutations and pulmonary arterial hypertension. 2. The mutations identified affect the ability of the...

High-dose prophylaxis for hemophilia increases costs with minimal benefit

Image: PD 1. High-dose prophylaxis for severe hemophilia increases total cost of care.  2. Compared to intermediate-doses, high-dose prophylaxis reduces bleeding and hemophilic arthropathy, but results in...

Quality improvement methods increase adherence to pediatric UTI guidelines

Image: PD 1. Quality improvement (QI) methods were associated with increased adherence to American Academy of Pediatrics (AAP) guidelines for imaging in children 2-24 months...

2 Minute Medicine Rewind September 30- October 6, 2013

Image: PD In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the past week. A Randomized Trial of...

Plastin 3 protein mutations may be involved in osteoporosis

Image: PD 1. Pathogenic variants of the plastin 3 (PLS3) gene were identified in five families with X-linked osteoporosis and osteoporotic fractures.   2. A rare PLS3...

A new genetic test for susceptibility to dapsone hypersensitivity syndrome

Image: PD  1. The HLA-B*13:01 allele was strongly associated with dapsone hypersensitivity syndrome.  2. The presence of the allele is 85.5% sensitive and 85.7% specific for...

New gene associated with essential thrombocytopenia and primary myelofibrosis

Image: PD 1. Mutations in the gene encoding calreticulin (CALR) were found in a majority of patients with non-JAK2, non-MPL essential thrombocythemia or primary myelofibrosis. 2....

Mitochondrial dysfunction identified in the pathogenesis of renal Fanconi’s syndrome

Image: PD  1. A missense mutation in the gene encoding the enzyme, EHHADH was identified in all members of a family diagnosed with isolated Fanconi’s...

Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]

Image: CC 1. Maternal plasma cell-free DNA (cfDNA) testing had significantly lower false positive rates and higher positive predictive values for trisomies 21 and 18...

2 Minute Medicine Rewind February 24th – March 2nd, 2014

In this section, we will highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Prevalence of Childhood and Adult...

All-time hits