Search

Epidemiologic studies consistently report a U-shaped curve relationship between the amount of alcohol consumption and cardiovascular disease, with consumption of ≥ three alcoholic drinks being associated with an increased risk. However, the cardioprotective effect of light and moderate alcohol consumption has been recently questioned. In the absence of a randomized trial confirming the cardioprotective effect of light or moderate alcohol consumption, an alternative method to prove the causality is Mendelian randomization using a genetic variant serving as a proxy for alcohol consumption. A Mendelian randomization analysis by Holmes et al. suggests that a reduction in alcohol intake is beneficial for cardiovascular health also in light to moderate drinkers. In a recent analysis of 83 prospective studies, alcohol consumption was roughly linearly associated with a higher risk of stroke, coronary heart disease excluding myocardial infarction, heart failure and risk of death from aortic aneurysm dissection. By contrast, increased alcohol consumption was associated with a lower risk of myocardial infarction. "Low-risk" alcohol consumption recommended by the National Institute of Public Health, Czech Republic, should not exceed 16 g of 100% ethanol/day for women and 24 g/day for men; at least two days a week should be alcohol free, and the dose of ethanol during binge drinking should not exceed 40 g. In practice, this means one standard drink daily for five days at most and two standard drinks at most when binge drinking. These amounts should be considered the highest acceptable limits, but alcohol consumption in general should be discouraged.

Purpose: The aim of this experimental study was to investigate whether paper-and-pencil and computerized surveys administered in the school setting yield equivalent data quality indicators and risk behavior prevalence estimates., Methods: Data were drawn from the European School Survey Project on Alcohol and Other Drugs (ESPAD®) carried out in Italy to monitor drug, alcohol, tobacco use and other risk-behaviors among Italian high school students aged 15-19 years. A sub-sample of schools was recruited for the study (1673 pupils). For each school, two entire randomly selected courses (from the first to the fifth grade) participated and were assigned randomly to the self-administered paper-and-pencil (N = 811) or computerized survey (N = 862). Differences in data quality were assessed using the following indicators: questionnaire completeness (missing gender and/or 50% of missing answers) and internal consistency (repetitive extreme response patterns). Separate logistic regression models were used to estimate the mode effect on the reporting of each risk behavior, controlling for gender and age. Finally, the prevalence estimates of the experimental study were compared to the results of the national ESPAD® study., Results: The computerized administration mode produced a higher proportion of invalid questionnaires, but the prevalence estimates generated from responses to the paper-and-pencil and computerized surveys were generally equivalent. Nevertheless, comparing these results with those of the national ESPAD® study, some differences in the prevalence rates were found., Conclusions: The findings suggest that in a proctored school setting, the computerized survey mode yields almost the same results as the paper-and-pencil mode. However, because of the reliance on existing informatics facilities until when all schools in the country will be sufficiently equipped for the computerized data collection, they should be given the opportunity to choose between paper-and-pencil and computerized survey modes, in order to avoid a possible selection bias., Competing Interests: The authors have declared that no competing interests exist.

Direct alcohol biomarkers are of growing interest for the assessment of alcohol consumption, with particular interest in phosphatidylethanol (PEth) in recent years. PEth is only formed when alcohol is present in the body. However, there is no statement about how much the PEth concentration increases after single moderate alcohol consumption. This study was conducted to determine the increase in PEth concentrations after a single drinking event. Additionally, a new volumetric sampling device (volumetric dried blood spot cards (DBSV)) was evaluated, which was designed to simplify further sampling processes and to allow for easy self-sampling. Dried blood samples from 31 volunteers were collected before and after single alcohol consumption with a mean maximum breath alcohol concentration of 0.4 mg/L (range: 0.30–0.55 mg/L). PEth concentrations were determined after automated extraction by liquid chromatography--tandem mass spectrometry. PEth 16:0/18:1 and PEth 16:0/18:2 concentrations increased to an average of 45 ng/mL each in patients starting below 20 ng/mL (range: 25.0–57.0 ng/mL for PEth 16:0/18:1; range 26.8–62.3 ng/mL for PEth 16:0/18:2). PEth concentrations in patients starting above 20 ng/mL increased by a mean of 30 ng/mL (range: 6.2–71.3 ng/mL for PEth 16:0/18:1; range 8.8–65.3 ng/mL for PEth 16:0/18:2). In addition, the comparison of the new sampling device DBSV with a standard filter paper card (with volumetrically applied 20 µL of blood samples) yielded a close agreement for the determined PEth concentrations in 24 forensic samples and three external controls. Therefore, the sampling device DBSV proved to be suitable for the determination of PEth concentrations in blood. [ABSTRACT FROM AUTHOR]

Background: Harmful Alcohol use is frequent among opioid dependents patients undergoing agonist maintenance treatment. The objective assessment of harmful alcohol use can be done using laboratory measures of serum biomarkers. For community-based patients, there is often a requirement of an alternative method due to lack of onsite laboratory services. The aim of the study was to examine filter paper as a matrix to measure serum biomarkers of harmful alcohol use. Methods: The initial phase involved standardization of the filter-paper-based assay. Conditions were optimised for extraction and estimation of alcohol biomarkers (Aspartate Aminotransferase; AST, Alanine Aminotransferase; ALT, Gamma Glutamyl transferase; GGT and Carbohydrate Deficient Transferrin; CDT) from the filter paper. For clinical validation, serum samples were collected from community clinics. Biomarker levels obtained from both the methods were correlated using linear regression analysis. Limits of agreement between the two methods was estimated using the Intraclass Correlation Coefficient (ICC). Results: The extraction of enzymes (AST, ALT and GGT) from filter paper was carried out using the substrate buffer available with the reagent kit (Randox, UK). CDT was readily extracted from filter paper using deionised water. Serum biomarker levels measured from samples collected from community clinics correlated well with filter paper extracted levels (ICC 0.97-0.99). More than 90% of alcohol biomarker levels were recovered from the filter paper matrix using this method. Conclusion: Filter paper has the potential to be used as a matrix to objectively measure alcohol biomarkers among opioid-dependent patients from community settings lacking onsite laboratory facilities. [ABSTRACT FROM AUTHOR]

Background: Childhood malnutrition in India remains among the highest in the world. Adult alcohol consumption and severe malnutrition have increased among indigenous people in South India. However, the association between them is poorly understood., Objectives: We aimed to evaluate this association, which could help design better intervention strategies., Methods: This case-control observational study was conducted in the Nilgiri district in South India. Cases included children aged 1-5 years with moderate malnutrition. Controls were defined as children in the same age group with normal weight-for-age. A questionnaire was used to collect data on demographics, socioeconomic status (SES), and parental education. The WHO Alcohol Use Disorders Identification Test (AUDIT) questionnaire was used to estimate parental alcohol use. Health-care workers collected data from within the community., Results: The baseline demographics of the children in the control (n = 250) and case groups (n = 177) were similar. Paternal age and AUDIT scores were not different in the two groups. SES was lower in the malnourished group, while maternal education among cases was significantly lower. Maternal and paternal education were associated with childhood malnutrition (odds ratio [OR]: 0.728 [95% confidence interval (CI): 0.583-0.903] and OR: 0.753 [95% CI: 0.589-0.957], respectively). After adjustment for covariates, paternal alcohol use was associated with a higher risk of malnutrition (OR: 1.56 [95% CI: 1.00-2.47]), which SES partly mediated., Conclusion: Paternal alcohol consumption is associated with childhood malnutrition, partially mediated by lower SES. Furthermore, lower SES appeared to be strongly associated with paternal alcohol consumption., (Copyright © 2024 Copyright: © 2024 Indian Journal of Public Health.)

This study aims to show that sensitive detection of ethyl glucuronide in dried blood spotted onto various surfaces after a period of 24h is feasible. At present, there is insufficient information how tightly ethyl glucuronide (EtG) binds to various materials and how easily it can be eluted. 4ml aliquots of blood samples obtained from seven volunteers after consumption of alcoholic beverages were applied to six different surfaces. After drying and a 24h-storage at 20±2°C the samples were re-dissolved in water, and EtG was subsequently analyzed by a LC-MS Paul-type ion trap. A comparison was made between dried and corresponding fluid samples. EtG was detectable in all subjects' samples following consumption of alcohol. EtG was also detectable after a storage time of four weeks at 4°C in whole blood that had been preserved with EDTA. EtG was detectable in all samples dried on different surfaces and its concentration remained relatively constant irrespective of the particular condition of the material. Detection of EtG in blood spots from the scene may indicate recent alcohol consumption in cases where collection of blood remained undone or could not be performed., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Objectives: There is insufficient evidence about the determinants of alcohol use amongst young people in India and other low-and middle-income countries, despite alcohol's high contribution to disease burden and increasing consumption in this population. We aimed to identify and estimate the determinants of alcohol use in a representative sample of 2716 young men from Bihar and Uttar Pradesh who participated in the 'Understanding the Lives of Adolescents and Young Adults' (UDAYA) study., Methods: First, we developed an exploratory conceptual framework of potential alcohol use determinants in the study settings based on available literature. We then estimated the effects of 35 potential alcohol use determinants identified in the conceptual framework (including 14 latent factors identified through exploratory factor analysis) on any alcohol use in the past 3 years and regular alcohol use amongst past three-year drinkers, using mixed-effects logistic models. The determinants explored were operationalised using longitudinal data from the UDAYA study., Results: Our adjusted models identified 18 determinants for past 3-year alcohol use and 12 determinants for regular use. Distal determinants (e.g., socioeconomic status), intermediate determinants (e.g., parental alcohol use, media use), and proximal determinants (e.g., emotional regulation, early tobacco use) were identified. Geographical variations in both outcomes indicate potential differences in unmeasured community-level determinants (e.g., alcohol availability and acceptability)., Conclusions: Our findings extend the generalizability of several known determinants across settings, yet highlight the importance of addressing alcohol use in young people as a complex and context-dependent issue. Many identified determinants (e.g., education, media use, poor parental support, early tobacco use) are amenable to intervention through multi-sectoral prevention programs/policies. Such determinants should be the focus of ongoing policy/intervention development efforts in the region, and our revised conceptual framework may inform further research in India or similar South Asian settings., (© 2023 The Authors Tropical Medicine & International Health Published by John Wiley & Sons Ltd.)

In April of 2006, a team of researchers consisting of both university and community partners from a Mi'kmaq reserve in Nova Scotia began the data-collection phase of a high school-based research study that had been two years in planning. The study examines the possible relationships between youth-reported childhood maltreatment, posttraumatic stress disorder (PTSD) symptoms, depressive symptoms, alcohol misuse, and resiliency factors. The aim of the research study is to provide information about adolescent alcohol misuse that is of practical benefit to community-based service providers, and capable of making a scholarly contribution to the scientific study of the relations of anxiety/mood symptoms and addictive behaviours. The primary aim of this paper is to present both the context from which the project grew, and the steps involved in conducting research with our school partners and the community service providers. A secondary aim is to present some of the preliminary data from the study, with a specific focus on resiliency. [ABSTRACT FROM AUTHOR]

Transcranial direct current stimulation (tDCS) is an emerging noninvasive brain neuromodulation technique aimed at relieving symptoms associated with psychiatric disorders, including addiction. The goal of the present study was to better identify which phase of alcohol-related behavior (hedonic effect, behavioral sensitization, self-administration, or motivation to obtain the drug) might be modulated by repeated anodal tDCS over the frontal cortex (0.2 mA, 20 min, twice a day for 5 consecutive days), using female mice as a model. Our data showed that tDCS did not modulate the hedonic effects of ethanol as assessed by a conditioned place preference test (CPP) or the expression of ethanol-induced behavioral sensitization. Interestingly, tDCS robustly reduced reacquisition of ethanol consumption (50% decrease) following extinction of self-administration in an operant paradigm. Furthermore, tDCS significantly decreased motivation to drink ethanol on a progressive ratio schedule (30% decrease). Taken together, our results show a dissociation between the effects of tDCS on "liking" (hedonic aspect; no effect in the CPP) and "wanting" (motivation; decreased consumption on a progressive ratio schedule). Our tDCS procedure in rodents will allow us to better understand its mechanisms of action in order to accelerate its use as a complementary and innovative tool to help alcohol-dependent patients maintain abstinence or reduce ethanol intake., (© 2022. The Author(s).)

Background: The acute effects of alcohol consumption are a major risk factor for suicide. Positive blood alcohol concentrations are present in almost one-third of all suicides at time of death. These suicides are defined as alcohol-related suicides. This cross-sectional study examines the geospatial distribution/clustering of high proportions of alcohol-related suicides and reports on socioeconomic and demographic risk factors., Methods: National Coronial Information System (NCIS) data were used to calculate proportions of suicides with alcohol present at the time of death for each level 3 statistical areas (SA3) in Australia. A density analysis and hotspot cluster analysis were used to visualise and establish statistically significant clustering of areas with higher (hotspots) and lower (coldspots) proportions. Subsequently, socioeconomic and demographic risk factors for alcohol use and suicide were reported on for hot and cold spots., Results: Significant clustering of areas with higher proportions of alcohol-related suicide occurred in northern Western Australia, the Northern Territory and Queensland, as well as inland New South Wales and inland Queensland. Clustering of SA3s with significantly lower proportions occurred in major city and inner regional Sydney and Melbourne. Conclusion and implications for public health: Results from this study identify areas in which prevention strategies should target alcohol use and can be used to inform prevention strategy design. Additionally, hotspots and coldspots identified in this study can be used for further analysis to better understand contextual risk factors for alcohol-related suicide., (© 2021 The Authors.)

The paper examines the impact of alcoholism on the values of family relationships and highlights the destructive consequences of alcohol abuse. The paper uses qualitative research methods and focuses on two distinct groups: middle-aged women from well-off families and children from children's homes who have experienced alcoholism from a family member. The paper reveals the pervasive consequences of parental alcohol abuse, such as low self-esteem, emotional instability and difficulties in establishing and maintaining healthy relationships. The findings highlight the urgent need for greater awareness and prevention efforts regarding the broader social and familial impacts of alcohol consumption. This research contributes to the understanding of relational dynamics in families affected by alcoholism. [ABSTRACT FROM AUTHOR]

Background: Although overall alcohol consumption is known to increase the risk of a number of cancers internationally, evidence for Australia and evidence regarding the pattern of drinking and cancer risk is limited., Methods: Adjusted hazard ratios (HR) and 95% confidence intervals (CI) for cancer risk in relation to overall alcohol consumption (drinks/week) and pattern of drinking were calculated using Cox proportional hazard regressions for 226,162 participants aged ≥45 years (2006-2009) in the 45 and Up Study, an Australian prospective cohort study. Incident primary cancer cases were ascertained by linkage to the New South Wales Cancer Registry to 2013 by the Centre for Health Record Linkage., Results: Over a median of 5.4 years, 17,332 cancers were diagnosed. Increasing levels of alcohol intake were associated with increased risk of cancers of the upper aerodigestive tract (1.19; 1.10-1.29), mouth and pharynx (1.18; 1.08-1.29), oesophagus (1.22; 1.04-1.43), colorectum (1.09; 1.04-1.15), colon (1.13; 1.06-1.20), liver (1.22; 1.04-1.44) and breast (1.11; 1.02-1.21). Breast cancer risk was marginally associated with drinking pattern, with higher risk when intake was concentrated on 1-3 days/week compared to the same amount spread over 4-7 days (P interaction  = 0.049)., Conclusions: Alcohol consumption confers a significant risk of cancer, and drinking pattern may be independently related to breast cancer risk.

Background Despite research highlighting the role of alcohol in military life, specifically in relation to mental health and certain combat experiences, there is no synthesised evidence looking at the relationship between military service and alcohol use. Aims To synthesize and examine evidence exploring the relationship between military service and alcohol use. Methods Six databases were examined across a 10-year period. Papers were included if they involved a military population and focused on alcohol use. From 4046 papers identified, 29 papers were included in the review. Results Military characteristics and experience were linked to high levels of alcohol use across military populations. Societal and cultural factors also played a role in alcohol use in military populations. Predatory behaviour of alcohol establishments, pressures to conform, an acceptance of alcohol use, and the role of religious services and military affiliated social networks were all considered. Excessive drinking impacted physical and mental health. Those diagnosed with PTSD and associated symptoms appeared to have greater alcohol use. Conclusions This review identified certain characteristics and experiences of military service that are associated with higher levels of alcohol use. It is important to identify risk factors for alcohol misuse to develop appropriate policy, targeting prevention. [ABSTRACT FROM AUTHOR]

Objective: To investigate the convergence of individual findings relating to psychological distress, alcohol use and social network (SN) to identify their associated clusters within Australian mineworkers., Methods: This study used cross-sectional survey data from 3,056 participants across 12 Australian mines. Latent class analysis used the scores of Kessler Psychological Distress Scale, Alcohol Use Disorders Identification Test (AUDIT) and Social Network Index., Results: Class 1 (moderate to very high psychological distress, low SN score and low to moderate AUDIT) included 39% (n=1,178) participants and class 2 (low to moderate psychological distress and AUDIT and very high SN) composed of 61% (n=1,873) participants. Class 1 was associated with younger age (OR=0.65, 95%CI=0.53-0.81), being a current smoker (OR=1.45, 95%CI=1.18-1.79), and reporting a history of anxiety (OR=3.00, 95%CI=2.23-4.05) and/or depression (OR=2.18, 95%CI=1.65-2.90)., Conclusions: These findings highlight the challenges the mining sector faces regarding the welfare of its employees. Implications for public health: Modifiable work factors associated with lower social networks and higher psychological distress need addressing at an individual and industry level through targeted and specifically tailored multi-component interventions., (© 2020 The Authors.)

This study compares estimates of self-reported substance use and psychological well-being obtained in computer-assisted and paper-and-pencil self-administered surveys. We examine the extent to which mode effects on survey responses are moderated by respondent characteristics and respondent attitudes, including attitudes toward computers, attitudes about confidentiality and privacy, and their general mistrust of others. Respondents age 12-34 were selected through a multistage area probability sample of urban and suburban areas nationally and were randomly assigned to interview mode. There were few main effects of mode on self-reported substance use and well-being. Significant mode-by-age interaction terms revealed that adolescents were more sensitive to mode of administration than older respondents. Adolescents reported significantly higher levels of alcohol use, illicit drug use, and psychological distress in the computer mode than on paper self-administered questionnaires. Significant mode-by-mistrust interactions were also found. Respondents with higher levels of mistrust in others were less likely to report substance use in the computer mode than in the paper-and-pencil format. [ABSTRACT FROM AUTHOR]

The use of screening questionnaires to detect early problem drinking has been stimulated by the development of the AUDIT (Alcohol-Use Disorders Identification Test). A comparison of a computerized version of the test and its paper and pencil original was conducted on 110 consecutive attenders at an alcoholism day-treatment facility. The findings suggest that the computer version is as acceptable as the paper and pencil one and that scores on the two formats are comparable. [ABSTRACT FROM PUBLISHER]

Purpose: The purpose of this study was to identify the impact of cigarette smoking and alcohol consumption on the incidence of colon cancer in adults with metabolic syndrome., Methods: This study employed a longitudinal study design and utilized secondary data drawn from the Korean Genome and Epidemiology Study (KoGES). The data of a sample of 2,327 adults with metabolic syndrome tracked every two years from 2001 to 2014 were used in this study. Statistical data analyses of the frequency, number of cases per 100,000 person-years, log-rank test, Kaplan-Meier curve, and Cox's proportional hazards regression were performed using IBM SPSS statistics version 24., Results: During the observation period, the number of colon cancer cases was 46, and the total person-years were 252,444. The incidence of colon cancer was higher in current, over 10 pack-year smokers when compared to non-smokers (hazard ratio=3.38, 95% confidence interval=1.09~8.42)., Conclusion: Excessive and long-term smoking should be avoided to prevent colon cancer, especially in adults with metabolic syndrome, since it might exacerbate the risk factors of colon cancer. Particularly, health professionals need to provide individualized smoking cessation interventions to those at high risk of colon cancer., Competing Interests: Data in this study were from the Korean Genome and Epidemiology Study (KoGES; 4851-302). National Research Institute of Health, Centers for Disease Control and Prevention, Ministry for Health and Welfare, Republic of Korea., (© 2019 Korean Society of Nursing Science.)

There has been increasing interest in using of web-based surveys--rather than paper based surveys--for collecting data on alcohol and other drug use in middle and high schools in the US. However, prior research has indicated that respondent confidentiality is an underlying concern with online data collection especially when computer-assisted surveys are administered in group settings such as computer labs and classrooms. Using a sample of 341 high school students, we conducted a study comparing alcohol risk behavior prevalence rates from the web-based surveys with paper-form version of the same survey. The online surveys used in the study implemented several programming safeguards to enhance privacy. The goal of our study was to see if the risk-behavior items--when transitioned to an online format with these additional safeguards--would provide prevalence estimates that are comparable to its paper form version. Results showed that overall alcohol prevalence rates did not vary significantly between the two conditions. However, there was a significant interaction between gender and survey mode. Females reported lower mean risk indicator rates compared to males, possibly indicating stronger privacy concerns among the former group. The results suggest that online survey administration may require targeted efforts to help alleviate confidentiality concerns among adolescent girls. [ABSTRACT FROM AUTHOR]

Introduction and aim. Alcohol is a factor that promotes injury- related death - poisoning, vehicle accidents, falls, drownings. Moreover, alcohol consumption contributes to the increase in suicide rate - blood alcohol content is present in many cases. Occasionally, its concentration is so high that it is questionable whether it is possible to commit a suicide or drive with such a high BAC. The study aimed to investigate if individuals with BAC over 3.5‰ can remain active and die of other reason than alcohol intoxication. Material and methods. Retrospective analysis of sectional protocols of people with BAC over 3.5‰ who did not die because of lethal blood concentration of alcohol from the Department of Forensic Medicine in Cracow in the years 2014-2022 was conducted. After finding cases with BAC over 3.5‰ who did not die as a result of alcohol intoxication, the analysis of the causes of their deaths was performed. Results. Having excluded subjects that did not meet our requirements, we obtained 43 cases in total -- 27 pedestrians hit by some vehicle, 4 drivers, 5 murdered victims, 5 died by hanging and 2 by falling from a height. We also searched for the highest possible BAC in general as well as in particular groups that enabled them remain active, and so we documented a pedestrian with BAC 4.8‰ who died in a road accident while crossing the road. Conclusion. Intoxicated people with BAC over 3.5‰ are able to perform different kinds of activities, which eventually become the cause of their death. Some people are still able to walk, hang themselves or even drive a car. The vast majority of our cases died in car accidents. The results of our research may thus undermine the claim that people with high blood alcohol levels are not capable of committing suicide. [ABSTRACT FROM AUTHOR]

The development of fast sensory analysis techniques is almost mandatory to meet the demand of the food and beverages industry, which requires quick responses that do not involve the investment of many resources. The increase in demand for sensory services, and the need for new methods that provide quick and useful data to the beverages industry, has caused a significant rise in sensory-related research. Sensory science is a young discipline that has proven to be very useful for the food and beverage industry, not only to guarantee the quality of the organoleptic properties of raw materials and processed foods/beverages, but also to increase the probability of the success of new developments, to understand consumer response and detect potential consumer niches, and to monitor competitors. [Extracted from the article]

A letter to the editor is presented in response to the articles related to alcohol consumption model under alcohol control policies by Kari Poikolainen in the previous issues of the periodical.

Background: Alcohol is often consumed in a social context. We aim to investigate whether social mobile sensing is associated with real-world social interactions and alcohol consumption. In addition, we investigate how social restriction policies implemented during the COVID-19 pandemic have influenced these associations., Methods: We conducted a smartphone-based ecological momentary assessment (EMA) study for 7 days over a 213-day period from 8 August 2020 to 9 March 2021 in Germany, including both no-lockdown and lockdown stages. Participants used a smartphone application which passively collects data on social behavior (e.g., app usage, phone calls, SMS). Moreover, we assessed real-world social interactions and alcohol consumption via daily questionnaires., Results: We found that each one-hour increase in social media usage was associated with a 40.2% decrease in the average number of drinks consumed. Mediation analysis suggested that social media usage decreases alcohol intake through decreased real-world social interactions. Notably, we did not find that any significant influence of the lockdown stage on the association between social mobile sensing and alcohol intake., Conclusions: Our study suggests that people who use more social media drink less, likely due to reduced face-to-face social interactions. This highlights the potential of social mobile sensing as an objective measure of social activity and its implications for understanding alcohol consumption behavior., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members. All the cases harbored biallelic PPA2 variants in compound heterozygous status. Two brothers from family 1 suffered sudden death after a small first intake of alcohol in 2013 and 2022. The sister remains alive but affected with cardiomyopathy, extensive scar on cardiac imaging, and high sensitivity to alcohol intake. The three siblings carried PPA2 c.290A > G (p.Glu97Gly) novel missense variant and PPA2 c.513C > T (p.Cys171 = ) altering splicing site variant, both probably leading to mRNA degradation based on in-silico and transcript analyses. A teenager from family 2 suffered sudden death after a small intake of alcohol in 2018 and carried PPA2 c.683C > T (p.Pro228Leu) missense and PPA2 c.980_983del (p.Gln327fs) novel frameshift variant, both probably leading to abnormal protein structure. All cases were asymptomatic until adolescence. Furthermore, the sister in family 1 has survived as an asymptomatic adult. PPA2 disease can manifest as cardiac arrest in the young, especially after alcohol exposure. Our results show that PPA2 deficiency can be related to different pathogenicity mechanisms such as abnormal protein structure but also mRNA decay caused by synonymous or missense variants. Strict avoidance of alcohol consumption and early defibrillator implantation might prevent lethal arrhythmias in patients at risk., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)