Genetics

Reports of high-impact genetics studies by medical professionals

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...

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...

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....

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...

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...

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...

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...

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...

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...

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