ABSTRACT
Objectives: In order to study the phenotype-genotype relationship and to better understand the early consequences of the mutation, we would report the spectrum of electrocardiographic and genetic features in the relatives of hypertrophic cardiomyopathy (HCM) patients. Methods: Participants underwent a comprehensive clinical assessment, electrocardiography, standardized and echocardiography and genetic testing. In probands, next-generation sequencing was performed using the gene panel associated with HCM, while in relatives, Sanger sequencing was used to screen for mutations identified in their individual probands. Results: A total of 84 participants were included in this study. The interventricular septal and posterior wall thickness was highest in the G+/LVH+ group, followed by the G+/LVH- group, and was lowest in G-/LVH- group. Compared to the normal control group, the pathologic Q wave was statistically more prevalent in the G+/LVH- group. The prevalence of repolarization abnormalities and major abnormalities was highest in the G+/LVH+ group, followed by the G+/LVH- group, and lowest in G-/LVH- group. Conclusion: Our results suggested that sarcomere mutations have early consequences on myocardial biology. These findings suggest the possibility of implementing a mutation carrier detection model within families affected by HCM, where ECG could play a central role when combined with other relevant clinical factors. Longitudinal studies on a cohort of G+/LVH- patients are required.
ABSTRACT
Plasticizers such as di(2-ethylhexyl) phthalate (DEHP) and tris (2-butoxyethyl) phosphate (TBOEP) are manufactured chemicals produced in high volumes. These chemicals are frequently detected in the aquatic environment and cause toxic effects on organisms. In this study, we assessed the chronic impacts of DEHP and TBOEP, respectively, at the concentration of 100 µg L-1 dissolved in the artificial medium (M4/4) and Mekong River water on life history traits of a tropical micro-crustacean, Ceriodaphnia cornuta, for 14 days. DEHP and TBOEP substantially reduced the survival of C. cornuta. In M4/4 medium, both plasticizers strongly enhanced reproduction but did not influence the growth of C. cornuta. Mekong River water, plasticizers-exposed C. cornuta produced less neonates than those in the control. The detrimental impacts of DEHP and TBOEP on the fitness of C. cornuta were much stronger in natural river water than in M4/4. Our results suggest that plasticizers can cause adverse effects on tropical freshwater cladocerans, particularly in natural water. These results are of a deep concern, as national and international regulatory guidelines which are based on ecotoxicological tests using standard media may not fully capture these effects.
Subject(s)
Cladocera , Diethylhexyl Phthalate , Animals , Diethylhexyl Phthalate/toxicity , Humans , Infant, Newborn , Organophosphates , Phosphates , Phthalic Acids , Plasticizers/analysis , Plasticizers/toxicity , Rivers , WaterABSTRACT
A large number of white hard clam farms are in the estuary shoreline of Saigon-Dongnai Rivers, which flow through Ho Chi Minh City, a megacity, and numerous industrial zones in the basin catchment area. In this study, eleven trace elements (Mn, Fe, Co, Ni, Cu, Zn, As, Se, Cd, Hg, and Pb) in the hard clam Meretrix lyrata and its habitats including surface water, suspended particulate matter, and sediment were evaluated to understand the bioaccumulation of trace metals from the environment into the whole tissues of the hard clam as well as its different organs. The samples were collected monthly in dry, transition, and wet seasons of the southern part of Vietnam from March to September 2016. The results showed that seasonal and spatial variations of the studied metal concentrations in the hard clam M. lyrata might be influenced by the sea current as well as the surface runoff in the rainy season. The relationship between condition index and the element concentrations in M. lyrata might be affected by the living environment conditions and farming methods. In addition, the hazard index values of all trace elements in the hard clam M. lyrata harvested in the sampling time show that the hard clams farmed in the study area were safe for local consumers.