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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...
Genetics
Reports of high-impact genetics studies by medical professionals
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...
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...
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...
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...
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...
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...
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...
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...
