With their prospective cohort study on chromosomal microarray analysis (CMA) performed in high-risk pregnancies, Hillman and colleagues contribute another study to this field and also present their data in the context of an up-to-date systematic review and meta-analysis of the literature. They provide overall detection rates of abnormalities by CMA compared with conventional karyotyping for var...

Congenital heart defects (CHDs) are common birth defects and result in significant morbidity and global economic impact. Genetic factors play a role in most CHDs; however, identification of these factors has been historically slow due to technological limitations and incomplete understanding of the impact of human genomic variation on normal and abnormal cardiovascular development. The advent o...

We have previously shown in rainbow trout (Oncorhynchus mykiss) that gastric distension induces an instantaneous alpha-adrenoceptor-mediated increase in the dorsal aortic blood pressure (P(da)), with no change in cardiac output (CO), gut blood flow (Q(cma)), or heart rate. To investigate if feeding habits affect these patterns and to compare the differences between gastric distension alone and ...

Chronic metabolic acidosis (CMA) might result in a decrease in vivo in bone mass based on its reported in vitro inhibition of bone mineralization, bone formation, or stimulation of bone resorption, but such data, in the absence of other disorders, have not been reported. CMA also results in negative nitrogen balance, which might decrease skeletal muscle mass. This study analyzed the net in vivo...

BACKGROUND The mechanisms through which aberrant alpha-synuclein (ASYN) leads to neuronal death in Parkinson's disease (PD) are uncertain. In isolated liver lysosomes, mutant ASYNs impair Chaperone Mediated Autophagy (CMA), a targeted lysosomal degradation pathway; however, whether this occurs in a cellular context, and whether it mediates ASYN toxicity, is unknown. We have investigated present...

Metabolic acidosis has profound effects on vascular tone. This study investigated the in vivo effects of acute metabolic acidosis (AMA) and chronic metabolic acidosis (CMA) on hemodynamic parameters and endothelial function. CMA was induced by ad libitum intake of 1% NH4Cl for 7 days, and AMA was induced by a 3-h infusion of 6 M NH4Cl (1 mL/kg, diluted 1:10). Phenylephrine (Phe) and acetylcholi...