General Population Level Research Articles

Strategies for Sudden Cardiac Death Prevention.

Sudden cardiac death (SCD) represents a major challenge in modern medicine. The prevention of SCD orbits on two levels, the general population level and individual level. Much research has been done with the aim to improve risk stratification of SCD, although no radical changes in evidence and in therapeutic strategy have been achieved. Artificial intelligence (AI), and in particular machine learning (ML) models, represent novel technologic tools that promise to improve predictive ability of fatal arrhythmic events. In this review, firstly, we analyzed the electrophysiological basis and the major clues of SCD prevention at population and individual level; secondly, we reviewed the main research where ML models were used for risk stratification in other field of cardiology, suggesting its potentiality in the field of SCD prevention.

Predicting Plasma Vitamin C Using Machine Learning

ABSTRACT Precision Nutrition makes use of personal information about individuals to produce nutritional recommendations that have more utility than general population level recommendations. In many cases, being able to predict current status is a necessary first step in offering tailored nutritional advice. The objective of this study is to predict plasma vitamin C using machine learning. The NHANES dataset was used to predict plasma vitamin C in a cohort of 2952 American adults using regression algorithms and clustering in a way that a hypothetical health application might. Variables were selected based on a known or hypothesized relationship with plasma vitamin C, and variables that are expensive or difficult to obtain were excluded in order to more closely replicate the situation of a real health application. The best performance was seen with the XGBoost regressor, with random forest performing almost identically. Clustering was also investigated as a means of improving regression accuracy by splitting the data up into smaller yet more homogeneous groups, however, this was not successful. The low R-squared scores obtained by the models are likely to be due to the low resolution of the NHANES data, particularly the dietary data. This emphasizes the need for high-quality data sets in Precision Nutrition research.

Recognition of the Mental Workloads of Pilots in the Cockpit Using EEG Signals

The commercial flightdeck is a naturally multi-tasking work environment, one in which interruptions are frequent come in various forms, contributing in many cases to aviation incident reports. Automatic characterization of pilots’ workloads is essential to preventing these kind of incidents. In addition, minimizing the physiological sensor network as much as possible remains both a challenge and a requirement. Electroencephalogram (EEG) signals have shown high correlations with specific cognitive and mental states, such as workload. However, there is not enough evidence in the literature to validate how well models generalize in cases of new subjects performing tasks with workloads similar to the ones included during the model’s training. In this paper, we propose a convolutional neural network to classify EEG features across different mental workloads in a continuous performance task test that partly measures working memory and working memory capacity. Our model is valid at the general population level and it is able to transfer task learning to pilot mental workload recognition in a simulated operational environment.

Health Plans for Suicide Prevention in Spain: A Descriptive Analysis of the Published Documents.

The number of deaths by suicide worldwide each year is more than 800,000 people, which is equivalent to one death every 40 seconds. Suicide prevention has been listed by the World Health Organisation as a global imperative and has become a priority for global public health. This descriptive study describes and compares the intervention components included in the suicide prevention plans in the different provinces of Spain. We analysed the published documents through an extensive literature search and summarised the findings using descriptive content analysis. The search was carried out through the official websites of the government and health departments of each province in addition to consulting other official digital platforms such as the National Suicide Observatory, the World Health Organisation and the National Institute of Statistics. The results show the most relevant differences between the prevention plans, revealing that although all the activities included were related to the health sector, not all of them include prevention aimed at the general population level. We conclude that there is a lack of interventions related to the application of universal prevention, while selective and indicated prevention are the most developed tools in Spain.

Literacy in the time of Coronavirus: an Italian perspective: Value of literacy in the context of a pandemic.

COVID-19 pandemic, with its dramatic impact on society, poses a challenge to Health Pro-motion and to its principles of empowerment, social cohesion and citizens' democratic participation in health policies. In this pressing emergency, public health strategies aimed at preventing the spread of the pandemic have been primarily oriented towards restrictive measures (travel restrictions, use of PPE) in absence of an adequate educational communication, aimed at increasing citizens' knowledge and skills in regard to the emergency context. To offer a perspective on the Italian situation, in terms of health literacy and life skills in the context of COVID-19 pandemic, aimed not only at identifying deficits, but particularly at determining opportuni-ties and resources (assets) - offered by the peculiar context of crisis - useful to provide citizens with the necessary tools to comprehend the criticalities linked with the emergency and to shape their behaviour to new requirements, in absence of external obligations, as well as to promote future participation of the population - both effective and informed - in a social and political context. A non-systematic review of literature on the subject of health literacy and social cohesion in emergency contexts has been supported by a qualitative assessment, based on the model of assets and on the Italian condition in the last trimester of 2020. The scarce ability of the population to independently adequate habits and behaviour to new criti-calities required by the risk of infection - as well as the necessity to suspend their empowerment and capa-bility from government authorities to protect public health - has been firstly traced back to a widespread lack of literacy and life skills at a general population level. The current situation of crisis offers a peculiar opportunity of tools, circumstances and receptiveness to highlight such deficits, as well as an intervention on multiple fronts, in order to increase literacy and capability, both on an individual and on a community level, through inclusive and sustainable initiatives. A prevention strategy based on the critical understanding of risk and risk-related criticalities is the only one which can aspire to last over time, while offering an effective tool for the safeguarding of public health, along with an opportunity of being prepared to contrast future emergencies more effectively. The development of such strategies represents one of the most significant contributions Health Promotion can offer in the time of Coronavirus.

Investigation on Quality of Life and Economic Burden of Children with Cerebral Palsy in Changzhou.

Based on the data of children with cerebral palsy (CP) in Changzhou obtained by the Disabled Persons' Federation, this study sampled some children with CP and investigated their survival status, treatment cost, and family burden so as to provide scientific decision-making basis and policy suggestions for coping with disease hazards and improving children's quality of life. In this study, a simple random sampling method was used to conduct household surveys of the selected children with CP. The economic burden of CP is measured by direct and indirect methods, and the quality of life of patients of children with CP and their families is analyzed qualitatively and quantitatively by the EuroQol Five Dimensions (EQ-5D) Questionnaire. The average family economic burden of each case of CP in Changzhou was about 4,188,500 yuan, of which the direct medical burden was 205,800 yuan and the indirect economic burden was 3,982,700 yuan. The socioeconomic burden of CP in Changzhou is as high as about 2.244 billion yuan. From the EQ-5D measurement results of 55 children with CP, the average index score was 0.423, which was lower than the national general population level. The proportions of patients with CP who have problems in the five aspects of action, self-care, daily activities, pain/discomfort, and anxiety/depression are 72.73%, 81.82%, 81.82%, 83.64%, and 92.73%, respectively, which are significantly higher than those of the national general population. The average score of the Visual Analogue Scale (VAS) is 58.09, which is significantly lower than the national general population level. The only major factor affecting the quality of life of patients with CP and their families is the health status represented by the EQ-5D score. To liberate and develop the labor ability of patients and their direct caregivers through clinical treatment, rehabilitation, and special education is the most effective way to reduce the socioeconomic burden of CP. Relevant government departments should perform their duties, integrate social assistance resources, implement early intervention, and launch targeted support and assistance policy.

Discordant parameters of insulin-like growth factor 1 and growth hormone in the diagnosis and monitoring of acromegaly

Acromegaly is a rare endocrine disorder associated with multiple complications and increased mortality. Timely diagnosis and adequate treatment can bring the life expectancy of patients with acromegaly closer to the general population level. The tests for the diagnosis of acromegaly are measurement of both serum GH, and GH after oral glucose administration; serum insulin-like growth factor-1 (IGF-1). However, in clinical practice, up to 39% of patients with discordant results are found. The patients with discordant GH and IGF-1levels, are the most difficult to manage. This review discusses the prevalence of discordant GH and IGF-1 outcomes in patients with acromegaly; factors causing this discrepancy; the impact of hormone levels on treatment outcomes. Although endocrinologists are used to dealing with this discrepancy in clinical practice for many years, discordant patients'outcome remains uncertain and undefined The optimal treatment should be individually tailored for each patient, taking into account all clinical parameters.

Responding to COVID-19 with real-time general practice data in Australia

IntroductionAs SARS-CoV-2 spread around the world, Australia was no exception. Part of the Australian response was a robust primary care approach, involving changes to care models (including telehealth) and the widespread use of data to inform the changes. This paper outlines how a large primary care database responded to provide real-time data to inform policy and practice. Simply extracting the data is not sufficient. Understanding the data is. The POpulation Level Analysis and Reporting (POLAR) program is designed to use GP data for multiple objectives and is built on a pre-existing engagement framework established over a fifteen-year period. Initially developed to provide QA activities for general practices and population level data for General Practice support organisations, the POLAR platform has demonstrated the critical ability to design and deploy real-time data analytics solutions during the COVID-19 pandemic for a variety of stakeholders including state and federal government agencies. MethodsThe system extracts and processes data from over 1,300 general practices daily. Data is de-identified at the point of collection and encrypted before transfer. Data cleaning for analysis uses a variety of techniques, including Natural Language Processing and coding of free text information. The curated dataset is then distilled into several analytic solutions designed to address specific areas of investigation of interest to various stakeholders. One such analytic solution was a model we created that used multiple data inputs to rank patient geographic areas by the likelihood of a COVID-19 outbreak. The model utilised pathology ordering, COVID-19 related diagnoses, indication of COVID-19 related concern (via progress notes) and also incorporated state based actual confirmed case figures. ResultsUsing the methods described, we were able to deliver real-time data feeds to practices, Primary Health Networks (PHN) and other agencies. In addition, we developed a COVID-19 geographic risk stratification based on local government areas (LGAs) to pro-actively inform the primary care response. Providing PHNs with a list of geographic priority hotspots allowed for better targeting and response of Personal Protective Equipment allocation and pop-up clinic placement. ConclusionsThe program summarised here demonstrates the ability of a well-designed system underpinned by accurate and reliable data, to respond in real-time to a rapidly evolving public health emergency in a way which supports and enhances the health system response.

Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank

Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank

Prevalence of new coronavirus infection COVID-19 in patients undergoing pulmonary thromboendarterectomy (data from a single-center registry)

Aim. To assess the prevalence and clinical and functional features of a new coronavirus infection (COVID-19) in patients who underwent pulmonary thromboendarterectomy (PTE) using data from a single-center registry. Methods. This study included 127 patients with chronic thromboembolic pulmonary hypertension who underwent PTE from January 2016 to March 2020 and were included in a follow-up group. The follow-up after surgery was 6 or more months. The prevalence of COVID-19 and clinical and functional properties of the cardiorespiratory system were assessed in the study group. Results. The average follow-up period after PTE in the study group was 2.5 ± 0.9 years. 14 (11%) deaths not associated with COVID-19 were reported during this period. 5 cases of COVID-19 were detected among the remaining 113 patients. In one case, the infection was asymptomatic, while other patients had the typical clinical symptoms and developed bilateral polysegmental pneumonia. No patients required mechanical ventilation or died of COVID-19. All patients who underwent PTE were compliant with anticoagulation therapy and PAH-specific therapy for residual pulmonary hypertension. No adjustment of PAH-specific and anticoagulation therapy was required during COVID-19. Conclusion. The prevalence of COVID-19 in patients who underwent PTE was 4.4%, no deaths were recorded. Outpatient follow-up and timely informing of patients undergoing PTE allow keeping the COVID-19 morbidity and mortality in the studied group at the general population level. Evaluation of the impact of chronic anticoagulants and PAH-specific therapy on the outcome of COVID-19 deserves further research.

Sensory Responsiveness Is Linked With Communication in Infant Siblings of Children With and Without Autism.

Purpose Differences in communication development impact long-term outcomes of children with autism. Previous research has identified factors associated with communication in children with autism, but much of the variance in communication skill remains unexplained. It has been proposed that early differences in sensory responsiveness (i.e., hyporesponsiveness, hyperresponsiveness, and sensory seeking) may produce "cascading effects" on communication. Evidence for this theory is limited, however, as relations between sensory responsiveness and communication in the earliest stages of development have not been well established. The purpose of this study was to evaluate (a) whether infants with a heightened likelihood of autism diagnosis (i.e., infants with an older sibling with autism) differ from infants at general population-level likelihood of autism (i.e., infants with an older, nonautistic sibling) on patterns of sensory responsiveness, (b) whether early sensory responsiveness is correlated with concurrent communication, and (c) whether the aforementioned between-groups differences and associations are moderated by age. Method Participants were 40 infants (20 infants with an older sibling with autism, 20 infants with an older, nonautistic sibling) aged 12-18 months. A series of observational and parent report measures of sensory responsiveness and communication skill were administered. Results Group differences in sensory responsiveness across the 12- to 18-month period were limited (i.e., only observed for one measure of hyporesponsiveness), though selected differences in sensory responsiveness (i.e., parent-reported hyperresponsiveness and sensory seeking) emerged between groups over this developmental window. Parent-reported hyporesponsiveness was unconditionally, negatively associated with communication skills. Associations between expressive communication and (a) parent-reported sensory seeking and (b) an observational measure of hyperresponsiveness were moderated by age. Conclusions This study provides new insights into the nature of sensory responsiveness and theorized links with communication skill in infants at elevated and general population-level likelihood of autism diagnosis. Further work is needed to better characterize the effects of interest in a larger sample spanning a wider age range. Supplemental Material https://doi.org/10.23641/asha.14515542.

Burnout Toll on Empathy Would Mediate the Missing Professional Support in the COVID-19 Outbreak.

PurposeThe year 2020 was marked by the COVID-19 pandemic, massively disruptive at the general population level and for healthcare systems. We aimed to evaluate the psychological distress associated with work-related experiences among medical professionals and supporting staff during the pandemic outbreak.Patients and MethodsA cross-sectional survey was conducted between April and May 2020, employing a self-administered on-line questionnaire that included the collection of socio-demographic and professional status information, Hamilton Anxiety Rating Scale, nine-item Patient Health Questionnaire (PHQ-9), Maslach Burnout Inventory - General Survey, Connor-Davidson Resilience Scale, and a subscale of the International Personality Item Pool (IPIP) for empathy. A total of 364 professionals of the county-coordinated area responded. Descriptive statistics summarized the findings and a mediation model was analyzed, applying the causal step strategy. The specific direct and causal mediation effects were estimated with the bias-corrected and accelerated bootstrap sampling method.ResultsAnxiety, burnout, stress, resilience, and empathy proved to be significantly associated with both the professional category (ie, consultant, specialty doctor, trainee doctor, senior nurse, trainee nurse or other) and the perceived professional support (the nonparametric multivariate permutation test resulted in p=0.048 and p<0.001, respectively). When controlling for the marital and professional status, the female gender had an OR=2.26, 95% CI (1.21; 4.22) toward a high level of empathy compared to males. The causal mediation effect of the perceived lack of professional support on empathy through burnout-depersonalization was highly significant (p<0.001) with an average of 0.0599, 95% CI (0.0238; 0.10), while the direct effect was non-significant (p=0.536) with an average of 0.0295, 95% CI (−0.0774; 0.15).ConclusionWe highlighted the impact of the lack of professional support on healthcare workers’ empathy through burnout-depersonalization in a context of a high workload, time pressure, job stress beyond previous training, and inherently limited organizational support, which are potentially modifiable factors in the mid-term.

“Everybody Needs to Do Their Part, So We Can Get This Under Control.” Reactions to the Norwegian Government Meta‐Narratives on COVID‐19 Measures

On March 12, 2020, the Norwegian government put the country on lock‐down to get the COVID‐19 situation under control. Making people adhere to restrictive measures is difficult. Even so, the Norwegian government largely succeeded in getting the population to comply and became the first European country to announce control over the situation. In this study, we ask what narratives the government put forth in their communication of the measures and how these measures were handled and made sense of in personal narratives at the general population level. We base our discussion on near daily government press conferences in March–April, as well as qualitative interviews with 16 individuals. Using a cultural narrative perspective on the data, we tie these meta‐narratives and personal narratives together. Persuading people to comply with prevention and control measures in a crisis is crucial, and our study shows the importance of the selection of meta‐narratives. There will be cultural differences in governance and receptiveness of the population across different settings, and our study suggests that governments will have to balance where on different continua they place their COVID‐19 narratives, balancing freedom up against restrictions, hope against fear, and individualism against solidarity. Highlights Practitioners and policymakers need to be aware of the narratives they use to communicate COVID‐19 measures and how these fit with the overarching narratives in society. Using narratives that resonate as much as possible with people's personal narratives may aid meaning making and compliance.Practitioners also need to balance where on different continua they place their COVID‐19 narratives: balancing freedom against restrictions, hope against fear, and individualism against solidarity. The ideal placement of the narratives depends on culture and context.Ambiguously communicated messages make room for subjective interpretations in people's everyday lives, allowing for differing and conflicting personal narratives. Therefore, communication should be as concrete and consistent as possible.

PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity

Background: Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines—cytokine storm. Objective: The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D). Methods: We cross-compare the association data for PRF1:p.A91V mutation derived from GWAS on adult MS and pediatric T1D in Sardinians. The novel association with T1D was replicated in metanalysis in 12,584 cases and 17,692 controls from Sardinia, the United Kingdom, and Scotland. To dissect this mutation function, we searched through the coincident association immunophenotypes in additional set of general population Sardinians. Results: We report that PRF1:p.A91V, is associated with increase of lymphocyte levels, especially within the cytotoxic memory T-cells, at general population level with reduced interleukin 7 receptor expression on these cells. The minor allele increased risk of MS, in 2903 cases and 2880 controls from Sardinia p = 2.06 × 10−4, odds ratio OR = 1.29, replicating a previous finding, whereas it protects from T1D p = 1.04 × 10−5, OR = 0.82. Conclusion: Our results indicate opposing contributions of the cytotoxic T-cell compartment to MS and T1D pathogenesis.

Screening and eradication of Helicobacter pylori for gastric cancer prevention: the Taipei global consensus

ObjectiveA global consensus meeting was held to review current evidence and knowledge gaps and propose collaborative studies on population-wide screening and eradication of Helicobacter pylori for prevention of gastric cancer...

COVID-19 and mental health in Brazil: Psychiatric symptoms in the general population

Public health interventions at general population level are imperative in order to decrease the spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but they may contribute to widespread emotional distress and increased risk for psychiatric illnesses. We report on the results of an investigation into the occurrence and determinants of psychiatric symptoms among the Brazilian general population (N = 1996). We assessed sociodemographic variables and general mental health (DSM-5 Self-Rated Level 1 Cross-Cutting Symptom Measure), depression (PROMIS depression v.8a), anxiety (PROMIS anxiety v.8a), and post-traumatic stress symptoms (Impact of Event Scale-IES-R scale) using an online web-based survey. Anxiety (81.9%), depression (68%), anger (64.5%), somatic symptoms (62.6%) and sleep problems (55.3%) were the most common psychiatric symptoms. Younger age, female gender, low income, lower level of education, longer period of social distancing, and self-reported history of previous psychiatric illness were strongly associated with higher severity of symptoms. Our results support the negative impact of the COVID-19 pandemic on the mental health of the Brazilian population. The high prevalence of psychiatric symptoms observed in our sample indicates that the mental health impact of the COVID-19 pandemic should be considered a public health problem in Brazil. The health systems and individual clinicians must be prepared to offer and implement specific interventions in order to identify and treat psychiatric issues.

Use of Bisphosphonates, Calcium and Vitamin D for Bone Demineralization in Patients with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome: A Systematic Review and Meta-Analysis of Clinical Trials.

Background The present study performed a systematic review and meta-analysis of clinical trials using bisphosphonates for bone demineralization in human immunodeficiency virus (HIV) patients.Methods A comprehensive literature search was performed from January 2004 to January 2020 considering the bone mineral density (BMD) of the lumbar spine (LS) as the main outcome. Out of 214 titles that met criteria, 9 studies fulfilled the selection criteria.Results A total of 394 patients were identified, and they were allocated into 2 groups: the intervention group (200 patients), to whom a combination of alendronate or zoledronate with calcium and vitamin D was administered; and control group (194 patients), to whom only calcium and vitamin D was administered. Clinical profile and indicators of bone metabolism of the participants were evaluated regarding effect size, homogeneity, and consistency. No substantial heterogeneity between the groups was found for the baseline variables, and there was high consistency to the main outcome. The meta-analysis shows a significant difference in post-treatment BMD, favoring the intervention over the control treatment. The intervention improved LS density up to 0.227 g/cm², raising the average to the levels of general population. Adverse effects related to intervention were fever immediately after zoledronate administration and gastrointestinal complaints during alendronate usage. Other adverse effects were barely reported and poorly connected to intervention by studies’ authors, despite all of them have been successfully resolved.ConclusionsThis study provides evidence that BMD post-treatment is better in HIV patients who used bisphosphonates combined with calcium and vitamin D.

Rates of primary and secondary treatments for patients on active surveillance for localized prostate cancer—A population‐based cohort study

BackgroundThe rate of primary and secondary treatment while on active surveillance (AS) for localized prostate cancer at the general population level is unknown. Our objective was to determine the patterns of secondary treatments after primary surgery or radiation for patients who undergo AS.MethodsThis was a population‐based retrospective cohort study of men aged 50‐80 years old in Ontario, Canada, between 2008 and 2016. We identified 26 742 patients with prostate cancer, a Gleason grade score ≤7, and an index prostate‐specific antigen ≤10 ng/mL. Patients were categorized as undergoing AS with or without delayed primary treatment (DT; treatment >6 months after diagnosis) versus immediate treatment (IT; treatment ≤6 months). Patients receiving DT and IT were propensity score matched and the rate of secondary treatment (surgery or radiation ± androgen deprivation treatment) was compared using Cox proportional hazards models.ResultsWe identified 10 214 patients who underwent AS and 11 884 patients who underwent IT. Among patients undergoing AS, 3724 (36.5%) eventually underwent DT and among them, 406 (10.9%) underwent secondary treatment. The median time to DT was 1.2 years (IQR 0.5‐8.1 years). The relative rate of undergoing secondary treatment was similar in the DT vs IT group (HR 0.92; 95% CI: 0.79‐1.08). The risk of death in the DT group was higher compared to patients who did not undergo treatment (HR 1.23, 95% CI: 1.01‐1.49).ConclusionsAmong patients with localized prostate cancer on AS, one third undergo DT. The rate of secondary treatment was similar between the DT and IT groups. Patients in the DT group may experience a higher risk of mortality compared to those who remained on AS.

Awareness level of general population regarding acute chest pain in Aseer region, Southern of Saudi Arabia

Background: Myocardial infarction is caused by sudden closure of a coronary artery due to plaque rupture. Symptoms include chest pain, which travels from left arm to neck, dyspnea, sweating, nausea, vomiting, arrhythmia, anxiety, fatigue and weakness. Complications of acute myocardial infarction include papillary muscle rupture and mitral regurgitation, ventricular septal rupture, free-wall rupture, and right ventricular infarction. Adequate awareness of acute chest diseases improves medical consultation for suspected cases by general population.Methods: A descriptive cross-sectional approach was used targeting all population in Aseer region. The study was conducted during the period from December 2019 to March 2020. Data were collected using structured questionnaire included person’s socio-demographic data, Participants’ family history regarding heart attack, participants’ awareness regarding acute chest pain.Results: A total sample of 1287 respondents was included in the study. About 54% of the respondents aged 30 years or more and 65.3% were females. Only 9.2% of the participants correctly defined heart attack. Regarding symptoms, 59.9% of the participants reported left arm pain, 57.1% reported difficulty breathing and 29% told about burning sensation in middle of the chest. Totally, nearly one quarter of the participants had good awareness level regarding heart attack.Conclusions: In conclusion, the population awareness regarding heart attack and stroke is poor. Also, population with high risk were more knowledgeable. More effort should be paid to improve the public knowledge of stroke, more effective community-based education programs should be organized constantly with screening for population at high risk.

Tryptophan metabolism in phenylketonuria: A French adult cohort study.

Many similarities between tryptophan (Trp) and phenylalanine (Phe) metabolisms exist. It is possible that a modification of Trp metabolism might be seen in phenylketonuria (PKU). As some of these metabolites have neuroactive properties, they should be consider in neurological impairment seen in this pathology and not totally explained by blood Phe concentrations. One hundred and fifty-one adult PKU patients (mean age 26.8 years) were included for this study. Plasma Trp, kynurenine (KYN), 3-hydroxykynurenic acid (3HK), and kynurenic acid (KA) were analyzed by liquid chromatography coupled with tandem mass spectrometry. KYN and 3HK were significantly lower in PKU patients compared to general population (P < .0001), and KA was significantly enhanced is this population (P = .009). Furthermore, 3HK concentration was significantly different between PKU patients underwent controlled low-Phe diet compared to PKU patients without this diet (P = .0016). In PKU patients with diet, taking AA substitute enable higher plasma 3HK concentration than without (P = .0008) but still not reaching general population level (P < .0001). Although further study has to be done, it is clear that Trp metabolism is modified in adult PKU patients. An exploration of complete Trp metabolism, and not only Trp concentration, is needed in PKU population, but also in other inborn error of metabolism treated with hypoprotidic diet.