scholarly journals Estimates of PI*S and PI*Z Alpha-1 antitrypsin deficiency alleles prevalence in the Caribbean and North, Central and South America

2016 ◽  
Vol 71 (3) ◽  
Author(s):  
F.J. De Serres ◽  
I. Blanco ◽  
E. Fernández-Bustillo

Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of individuals with this deficiency to both lung and liver disease as well as other several adverse health effects. Studies to develop accurate estimates of the magnitude of this genetic disorder in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. In the present study, estimates of the prevalence of the two major deficiency alleles PI S and PI Z were estimated for 25 countries in the Caribbean and North, Central, and South America to supplement our previous studies on 69 countries worldwide. Method. Using data on the prevalence of the two most common deficiency alleles PI S and PIZ in the mother countries that provided the majority of immigrants to these 25 countries, as well as genetic epidemiological studies on various genetic subgroups indigenous to the Caribbean and North, Central and South America it was possible to develop new formulas to estimate the numbers in each of five phenotypic classes, namely PI MS, PI MZ, PI SS, PI SZ and PI ZZ for each country. Results. When these 25 countries were grouped into six different geographic regions, the present study demonstrated striking differences when comparisons were made in numeric tables, maps and figures. Highly significant numbers of individuals at risk for AAT Deficiency were found in both the European, Mestizo and Mulatto populations for most of the 25 countries studied in the Caribbean and North, Central and South America. Conclusions. Our studies demonstrated striking differences in the prevalence of both the PIS and PIZ alleles among these 25 countries in the Caribbean and North, Central and South America and significant numbers of individuals at risk for adverse health effects associated with AAT Deficiency in a given country. When these data are added to the results from our earlier studies on 69 countries, we now have data on AAT Deficiency in 94 of the 193 countries worldwide listed in the CIA FactBook.

2016 ◽  
Vol 67 (4) ◽  
Author(s):  
F.J. De Serres ◽  
I. Blanco ◽  
E. Fernández-Bustillo

Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, information on accurate estimates of the magnitude of alpha-1 antitrypsin deficiency in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. Method. Genetic epidemiological studies for alpha-1 antitrypsin deficiency made by others have been used to determine the percentages and estimates of the numbers in each of the five phenotypic classes (PI MS, PI MZ, PI SS, PI SZ, and PI ZZ) of the most common deficiency alleles: PI S and PI Z in each of 69 countries worldwide and also when grouped into 13 major geographic regions. Results. Our studies have demonstrated striking differences between these estimates when comparisons were made in numeric tables, maps and figures. Conclusions. Our studies demonstrated striking differences in the prevalences of both the PIS and PIZ alleles among these 69 countries and the numbers at risk for AAT Deficiency in a given country in specific geographic regions. Data on the prevalence of the two major deficiency alleles as well as the numbers in those phenotypic classes known to be at risk for AAT Deficiency is considered critical for the identification of individuals at risk for adverse health effects associated with AAT Deficiency as well as the treatment and management of those individuals identified in a given country.


2021 ◽  
Vol 64 (1) ◽  
pp. 3-11
Author(s):  
Jong-Tae Lee

There is a growing body of literature on the adverse health effects of ambient air pollution. Children are more adversely affected by air pollution due to their biological susceptibility and exposure patterns. This review summarized the accumulated epidemiologic evidence with emphasis on studies conducted in Korea and heterogeneity in the literature. Based on systematic reviews and meta-analyses, there is consistent evidence on the association between exposure to ambient air pollution and children’s health, especially respiratory health and adverse birth outcomes, and growing evidence on neurodevelopmental outcomes. Despite these existing studies, the mechanism of the adverse health effects of air pollution and the critical window of susceptibility remain unclear. There is also a need to identify causes of heterogeneity between studies in terms of measurement of exposure/outcome, study design, and the differential characteristics of air pollutants and population.


2014 ◽  
Vol 307 (4) ◽  
pp. H467-H476 ◽  
Author(s):  
Stephen A. Farmer ◽  
Timothy D. Nelin ◽  
Michael J. Falvo ◽  
Loren E. Wold

Concentrations of outdoor air pollution are on the rise, particularly due to rapid urbanization worldwide. Alternatively, poor ventilation, cigarette smoke, and other toxic chemicals contribute to rising concentrations of indoor air pollution. The World Health Organization recently reported that deaths attributable to indoor and outdoor air pollutant exposure are more than double what was originally documented. Epidemiological, clinical, and animal data have demonstrated a clear connection between rising concentrations of air pollution (both indoor and outdoor) and a host of adverse health effects. During the past five years, animal, clinical, and epidemiological studies have explored the adverse health effects associated with exposure to both indoor and outdoor air pollutants throughout the various stages of life. This review provides a summary of the detrimental effects of air pollution through examination of current animal, clinical, and epidemiological studies and exposure during three different periods: maternal (in utero), early life, and adulthood. Additionally, we recommend future lines of research while suggesting conceivable strategies to curb exposure to indoor and outdoor air pollutants.


Author(s):  
Mark J. Nieuwenhuijsen ◽  
James Grellier ◽  
Rachel Smith ◽  
Nina Iszatt ◽  
James Bennett ◽  
...  

This paper summarizes the epidemiological evidence for adverse health effects associated with disinfection by-products (DBPs) in drinking water and describes the potential mechanism of action. There appears to be good epidemiological evidence for a relationship between exposure to DBPs, as measured by trihalomethanes (THMs), in drinking water and bladder cancer, but the evidence for other cancers including colorectal cancer is inconclusive and inconsistent. There appears to be some evidence for an association between exposure to DBPs, specifically THMs, and little for gestational age/intrauterine growth retardation and, to a lesser extent, pre-term delivery, but evidence for relationships with other outcomes such as low birth weight, stillbirth, congenital anomalies and semen quality is inconclusive and inconsistent. Major limitations in exposure assessment, small sample sizes and potential biases may account for the inconclusive and inconsistent results in epidemiological studies. Moreover, most studies have focused on total THMs as the exposure metric, whereas other DBPs appear to be more toxic than the THMs, albeit generally occurring at lower levels in the water. The mechanisms through which DBPs may cause adverse health effects including cancer and adverse reproductive effects have not been well investigated. Several mechanisms have been suggested, including genotoxicity, oxidative stress, disruption of folate metabolism, disruption of the synthesis and/or secretion of placental syncytiotrophoblast-derived chorionic gonadotropin and lowering of testosterone levels, but further work is required in this area.


2021 ◽  
Author(s):  
◽  
Jarred Butler

<p>Regularly being exposed to the types of mould spores that can grow in houses has been shown to lead to adverse health effects such as respiratory diseases, and the exacerbation of asthma. While susceptible groups such as children, the elderly, and atopic persons are more susceptible to these effects, adverse health effects from mould spores have been shown to affect non-topic populations.  The 2015 Building Research Association of New Zealand House Condition Survey found that 46% of owner-occupied properties, and 54% of rented properties in a representative sample of the New Zealand housing stock have some form of mould in them. This means that a large portion of the population could be at risk of suffering from the adverse health effects associated with mould growth in houses. Increased air-tightness in new houses could also be at risk of being under-ventilated, potentially exacerbating this mould issue.  It is unknown whether the current New Zealand Building Code, at the time of writing, provides sufficient ventilation requirements to prevent new houses from being under-ventilated. It also does not consider existing houses, which is where most of the mould in the HCS was found.  This study explored whether data from the House Condition Survey and WuFi-Bio could be used to test mould mitigation strategies in New Zealand residential bathrooms. This was done by modelling a subset of houses from the House Condition Survey in WuFi-Pro, estimating the risk of mould in them with WuFi-Bio, and comparing this to the observations from the House Condition Survey. Parameters in the models were then changed to reflect the impact that strategies would have on the humidity and temperature in the bathrooms. The aim of this was to develop a hierarchy of recommendations that could help home occupiers and designers determine the most appropriate methods they could use to prevent mould from growing in their homes/designs.  However, the results did not align with the observations from the House Condition Survey, and testing the validity of the models by exploring the impact of assumptions showed they had no significant impact. The cause of this misalignment could not be determined, however a lack of internal condition time-series data and information about how observed mould from the House Condition Survey were identified of areas of uncertainty and prevented further exploration.  The exploration that was conducted revealed the importance of having enough data to understand the conditions that lead to any observed mould if an existing bathroom is being assessed using WuFi-Bio. It was concluded that attempting to assess a large number of houses with little data using WuFi-Bio was impractical. A controlled experimental study aimed at understanding a few houses in-depth would be a more appropriate method to test mould mitigation strategies, and help address the mould issue in New Zealand houses.</p>


2021 ◽  
Author(s):  
◽  
Jarred Butler

<p>Regularly being exposed to the types of mould spores that can grow in houses has been shown to lead to adverse health effects such as respiratory diseases, and the exacerbation of asthma. While susceptible groups such as children, the elderly, and atopic persons are more susceptible to these effects, adverse health effects from mould spores have been shown to affect non-topic populations.  The 2015 Building Research Association of New Zealand House Condition Survey found that 46% of owner-occupied properties, and 54% of rented properties in a representative sample of the New Zealand housing stock have some form of mould in them. This means that a large portion of the population could be at risk of suffering from the adverse health effects associated with mould growth in houses. Increased air-tightness in new houses could also be at risk of being under-ventilated, potentially exacerbating this mould issue.  It is unknown whether the current New Zealand Building Code, at the time of writing, provides sufficient ventilation requirements to prevent new houses from being under-ventilated. It also does not consider existing houses, which is where most of the mould in the HCS was found.  This study explored whether data from the House Condition Survey and WuFi-Bio could be used to test mould mitigation strategies in New Zealand residential bathrooms. This was done by modelling a subset of houses from the House Condition Survey in WuFi-Pro, estimating the risk of mould in them with WuFi-Bio, and comparing this to the observations from the House Condition Survey. Parameters in the models were then changed to reflect the impact that strategies would have on the humidity and temperature in the bathrooms. The aim of this was to develop a hierarchy of recommendations that could help home occupiers and designers determine the most appropriate methods they could use to prevent mould from growing in their homes/designs.  However, the results did not align with the observations from the House Condition Survey, and testing the validity of the models by exploring the impact of assumptions showed they had no significant impact. The cause of this misalignment could not be determined, however a lack of internal condition time-series data and information about how observed mould from the House Condition Survey were identified of areas of uncertainty and prevented further exploration.  The exploration that was conducted revealed the importance of having enough data to understand the conditions that lead to any observed mould if an existing bathroom is being assessed using WuFi-Bio. It was concluded that attempting to assess a large number of houses with little data using WuFi-Bio was impractical. A controlled experimental study aimed at understanding a few houses in-depth would be a more appropriate method to test mould mitigation strategies, and help address the mould issue in New Zealand houses.</p>


BMJ Open ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. e044833
Author(s):  
Gabriel Silver ◽  
Yordanka Krastev ◽  
Miriam K Forbes ◽  
Brenton Hamdorf ◽  
Barry Lewis ◽  
...  

IntroductionPerfluoroalkyl and polyfluoroalkyl substances (PFAS) are a diverse group of compounds that have been used in hundreds of industrial applications and consumer products including aqueous film-forming foam (AFFF) for many years. Multiple national and international health and environmental agencies have accepted that PFAS exposures are associated with numerous adverse health effects. Australian firefighters have been shown to have elevated levels of PFAS in their blood, specifically perfluorooctane sulfonic acid (PFOS) and perfluorohexane sulfonic acid (PFHxS), due to the historical use of AFFF. While PFAS concentrations decline over time once the source of exposure has been removed, their potential adverse health effects are such that it would be prudent to develop an intervention to lower levels at a faster rate than occurs via natural elimination rates.Methods and analysisThis is a randomised controlled trial of current and former Australian firefighters in the Metropolitan Fire Brigade/Fire Rescue Victoria, and contractors, with previous occupational exposure to PFAS and baseline elevated PFOS levels. The study is investigating whether whole blood donation every 12 weeks or plasma donation every 6 weeks will significantly reduce PFAS levels, compared with a control group. We have used covariate-adaptive randomisation to balance participants’ sex and blood PFAS levels between the three groups and would consider a 25% reduction in serum PFOS and PFHxS levels to be potentially clinically significant after 12 months of whole blood or plasma donation. A secondary analysis of health biomarkers is being made of changes between screening and week 52 in all three groups.Ethics and disseminationThis trial has been approved by Macquarie University Human Research Ethics Committee (reference number: 3855), final protocol V.2 dated 12 June 2019. Study results will be disseminated via peer-reviewed publications and presentations at conferences.Trial registration numberAustralian New Zealand Clinical Trials Registry (ACTRN12619000204145).


Sign in / Sign up

Export Citation Format

Share Document