Tag: genetics

1. Higher frequencies of malignant ventricular arrhythmia and end-stage heart failure were found among individuals carrying truncating variants of the gene encoding filamin C versus the gene encoding TTN. 2. These results suggest that higher left ventricular ejection fraction values than those currently recommended should be considered for prophylactic implantable...
1. 30% of the population suffers from reflex syncope, a major cause of transient loss of consciousness. Understanding genetic basis of this condition may offer new insight on therapeutic solution. Evidence Rating Level: 2 (Good) Study Rundown: Previously, population-based studies on familial aggregation of reflex syncope were lacking. This cohort study...
1. The association between major birth defects and cancer risk was present in children, adolescents, and adults, although the risk was lower in adults. 2. Chromosomal abnormalities were associated with a 5.5 times higher risk of cancer, compared to 1.5 times greater risk for non-chromosomal abnormalities. Evidence Rating Level: 3 (Average) Birth...
1. The SHISA3 gene was found to be silenced through promoter methylation at higher levels in breast cancer tissues compared to normal breast tissues. Evidence Rating Level: 1 (Excellent) Breast cancer (BC) accounts for 15% of tumor related deaths in women, translating to over 627,000 deaths worldwide in 2018 alone. Late...
1. Cross-generational transmission between bipolar disorder and schizophrenia was predominantly based on genetics, while transmission between bipolar disorder and major depression was equally influenced by genetics and child-rearing practices. Evidence Rating Level: 2 (Good) Cross-generational transmission of bipolar disorder is less well-known, with specific gaps related to whether parental bipolar disorder...
1. Whole exome sequencing (WES) provided diagnosis for a subset of patients with chronic kidney disease (CKD). 2. Identification of certain mutations, via WES, changed the clinical management of CKD patients. Evidence Rating Level: 2 (Good) Study Rundown: Over the past 10 years, we have seen significant advances in genetics technology that...
1. In this prospective analysis, prenatal exposure to environmental pollution was associated with decreased telomere length in newborns. 2. The link between prenatal pollution and telomere length demonstrated a non-linear dose-response relationship, and displayed the greatest effect in the second trimester. Evidence Rating Level: 2 (Good) Study Rundown: Telomeres are short stretches...
1. In a cohort of children under the age of 12 months admitted to the intensive care unit (ICU) without a clear diagnosis, rapid, targeted genetic testing revealed a diagnosis in about one-third of patients. 2. Genetic diagnoses significantly impacted the care of those children identified as having a genetic...
1. Pedigrees of families with infantile hemangioma (IH) were consistent with 2 distinct modes of transmission: autosomal dominant transmission and maternal inheritance, both with incomplete penetrance. 2. Current discomfort from IH lesions was reported to be greater in familial cases compared to that of sporadic cases. Study Rundown: Infantile hemangiomas (IHs),...
1. In a pre-clinical study of post-mortem brains of Alzheimer’s disease (AD) patients, there was an isolated depletion of neuronal Breast Cancer Type 1 Susceptibility Protein (BRCA1), a DNA repair protein, compared to controls. 2. BRCA1-knock out mice models demonstrated memory and spatial learning deficits as well as decreased long-term...