Key mutations may protect against coronary artery disease
1. Genetic mutations that led to the inactivation NPC1L1, a lipid transporter protein, were linked to lower low-density lipoprotein (LDL)...
Genetics
Reports of high-impact genetics studies by medical professionals
Extraordinary response, and resistance, to everolimus in thyroid cancer pinned to mutations
1. A metastatic anaplastic thyroid cancer with inactivation of tumor suppressor gene TSC2 and overactivation of the mammalian target of...
2 Minute Medicine Rewind September 22 – September 29, 2014
In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Ebola...
Decrease in sedentary lifestyle associated with longer telomere length
1. Reduced time spent sitting by elderly individuals was significantly associated with telomere lengthening in blood cells. 2. Increases in...
Transfusion therapy linked with reduced neurovascular disease in sickle cell anemia
1. In children with sickle cell anemia and silent infarcts, the incidence of recurrent infarcts was significantly lower in the...
Exome sequencing potentially valuable in diagnosing familial cerebellar ataxias
1. Clinical exome sequencing (CES) is a method of analyzing the protein-encoding genes of an entire genome. 2. CES may...
Marked decline in cystic fibrosis-related mortality over 10 years
1. From 2000 to 2010, adjusted mortality for cystic fibrosis (CF) patients dropped by 17% (1.8% per year). 2. Median...
PALB2 mutations shown to be important risk factor for breast cancer
1. Women with PALB2 mutations were 4 to 9 times more likely to be diagnosed with breast cancer when compared...
Proposed need for regulation of direct-to-consumer genetic testing
1. Direct to consumer genetic tests have increased in popularity due to technology, access, and affordable cost, and present both...
Genetic and non-genetic risk factors associated with pediatric celiac disease [TEDDY study]
1. Children with the HLA haplotype DR3-DQ2 were at a higher risk for developing celiac disease autoimmunity and celiac disease...
