Parental Psychological Distress of Missed Diagnosis of Down Syndrome at Antenatal Screening: A Rare, but Still Real Occurrence - A Case Report and Review of Literature.

INTRODUCTION: Prenatal screening programs are important components for pregnant women care and are often linked with grief and shock based on gestational age or the diagnosis. Lower/no sensitivity is also associated with these screening programs leading to providing false-negative outputs. CASE PRESENTATION: Present work shows a case of missed antenatal diagnosis of Down syndrome and its persistant medical and psychological impact on the family members. We have also discussed the relevant economic and medical-legal issues related to the context and aimed to maintain an adequate awareness among healthcare to discuss properly these investigations (difference between screening and diagnostic testing), their possible outcome (chances of false results) and enabled the pregnant women/couple to take informed decision on early pregnancy. CONCLUSION: These programs are considered as routine clinical practice in many countries from last few years and are necessary to assess the pros and cons of these programs. One of the prime cons involves the likeliness of obtaining a false-negative result due to lack of 100% sensitivity and specificity.

Epidemiology of multiple sclerosis in the Campania Region (Italy): Derivation and validation of an algorithm to calculate the 2015-2020 incidence.

OBJECTIVE: We aim to validate an algorithm based on routinely-collected healthcare data to detect incidence of multiple sclerosis (MS) in the Campania Region (South Italy) and to explore its spatial and temporal variations. METHODS: We included individuals resident in the Campania Region who had at least one MS record in administrative datasets (drug prescriptions, hospital discharge, outpatients), from 2015 to 2020. We merged administrative to the clinical datasets to ascertain the actual date of diagnosis, and validated the minimum interval from our study baseline (Jan 1, 2015) to first MS records in administrative datasets to detect incident cases. We used Bayesian approach to explore geographical distribution, also including deprivation index as a covariate in the estimation model. We used the capture-recapture method to estimate the proportion of undetected cases. RESULTS: The best performance was achieved by the 12-month interval algorithm, detecting 2,150 incident MS cases, with 74.4% sensitivity (95%CI = 64.1%, 85.9%) and 95.3% specificity (95%CI = 90.7%, 99.8%). The cumulative incidence was 36.68 (95%CI = 35.15, 38.26) per 100,000 from 2016 to 2020. The mean annual incidence was 7.34 (95%CI = 7.03, 7.65) per 100,000 people-year. The geographical distribution of MS relative risk shows a decreasing east-west incidence gradient. The number of expected MS cases was 11% higher than the detected cases. CONCLUSIONS: We validated a case-finding algorithm based on administrative data to estimate MS incidence, and its spatial/temporal variations. This algorithm provides up-to-date estimates of MS incidence, and will be used in future studies to evaluate changes in MS incidence in relation to different risk factors.

Health-Related Quality of Life in pre-dialysis patients with chronic kidney disease: the role of Big-Five personality traits and illness denial.

BACKGROUND: Health-Related Quality of Life (HRQoL) in patients with chronic kidney disease (CKD) is significantly affected, regardless of the stage of the disease, as regards the physical, psychological and social functioning dimension. Big-Five personality traits can affect patients' HRQoL and willingness to take treatment options. Illness denial consists of denial of negative emotions, resistance to change and conscious avoidance. Poorer HRQoL can predict a higher risk of hospitalization and mortality, and broadly a worse adjustment to the dialytic therapy. Thus, a clearer knowledge of the psychological variables associated with a worse HRQoL in the predialysis stage might improve the intervention planning. No study investigated illness denial and personality traits simultaneously. We investigated the role of illness denial and Big-Five personality traits in the domains of HRQoL in predialysis patients with CKD. METHODS: One hundred adults (mean age: 75.87 years) with CKD participated. The Kidney Disease Quality of Life Short form, the Italian version of Ten Item Personality Inventory Revised, the Illness Denial Questionnaire, and the State-Trait Anxiety Inventory Form-Y were administered. RESULTS: Illness denial was associated with increased HRQoL related to symptoms/problems, effect and burden of CKD and cognitive functions domains, and it was a predictor of higher HRQoL in the last three domains mentioned above. Extraversion was related to better work status and sexual function; agreeableness was linked to elevated cognitive function, quality of social interaction and sexual function; conscientiousness was related to better sexual function; neuroticism was linked to improved cognitive and sexual functions; in the end, openness to experience was related to fewer symptoms and problems. CONCLUSIONS: This is the first study which simultaneously assessed Big-Five personality traits and illness denial in different domains of HRQoL of CKD patients. Personalised psychological interventions aimed at improving HRQoL in this population might focus on specific illness denial processes and personality traits.

Acrylamide levels in smoke from conventional cigarettes and heated tobacco products and exposure assessment in habitual smokers.

Acrylamide (AA) is a neurotoxic, genotoxic, and carcinogenic compound developed during heating at high temperatures. Foods such as potatoes, biscuits, bread and coffee are the main foodstuffs containing AA. Cigarette smoke may be a significant additional source of exposure. However, AA content may vary among different types of cigarettes. The study aimed to evaluate the AA content in conventional cigarettes (CC) and heated tobacco products (HTP) and its resulting exposure through their use. AA levels from the two types of cigarettes were determined by GC-MS and the daily exposure to AA was also ascertained. The margin of exposure (MOE) was calculated for neurotoxic and carcinogenic risk based on benchmark dose lower confidence limit for a 10% response (BMDL10) of 0.43 and 0.17, 0.30, and 1.13 mg/kgbw/day. AA level in CC ranged from 235 to 897 ng/cigarette, whereas HTP reported AA levels in the range of 99-187 ng/cigarette. The data showed a low neurotoxic risk for either CC or HTP, whereas a carcinogenic risk emerged through the smoking of CC based on different Benchmark doses. The carcinogenic risk for CC based on the highest Benchmark dose that was considered showed unsafe levels, as little as 10 CC cigarettes/day, whereas it was almost always of low concern for HTP. Another approach based upon the incremental lifetime cancer risk (ILCR) analysis led to similar results, exceeding, in some cases, the safety value of 10-4, as far as CC are concerned. Overall, the results confirmed that CC are a significant source of AA, and its levels were five times higher than in HTP.