Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome.

BACKGROUND: Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy. In addition to male hypergonadotropic hypogonadism, a wide range of neurodevelopmental disorders, anxiety and affective symptoms have been reported in a substantial proportion of cases. CASE DESCRIPTION: We document the rare case of a 43-year-old man diagnosed with Klinefelter syndrome and co-morbid Gilles de la Tourette syndrome. He presented with multiple motor and vocal tics since adolescence, as well as anxiety and affective symptoms as his main tic-exacerbating factors. Tic severity was rated as marked (Yale Global Tic Severity Scale score of 78/100), and recommendations for the treatment of both tics and psychiatric co-morbidities were formulated. DISCUSSION: Neurodevelopmental tics in the context of Klinefelter syndrome have been previously documented in three cases only. Gilles de la Tourette syndrome is 3-4 times more common in males than females and its etiological factors include multiple genetic components (genetic heterogeneity). Our case report widens the spectrum of neurodevelopmental disorders observed in the context of Klinefelter syndrome and contributes to genetic research on the role of the X chromosome in the pathophysiology of tic disorders.

A descriptive analysis of COVID-19 associated mortality in Parma Province: concordance between official national mortality register provided by ISTAT (National Institute of Statistics) and local ADS (Automated Data System) real-time surveillance flow.

BACKGROUND AND AIM: The Public Health Department of the Parma Local Health Authority (AUSL) has implemented a computerized system called ADS (Automated Data System) to collect data on COVID-19 cases and related deaths, as required by the Emilia-Romagna Region and the Italian Ministry of Health, to improve the daily flow of real-time information. However, official mortality data for all causes was collected even from the National Institute of Statistics (ISTAT) through death forms that were completed by certifying doctors in each municipality. This analysis aims to verify the agreement between the data collected by ISTAT and the data collected by ADS. METHODS: The study period went from January 1st to December 31st, 2021. The population under observation consisted of residents in the province of Parma who died due to COVID-19, as identified through the ISTAT and/or ADS data flow. RESULTS: In 2021, a total of 448 deaths due to COVID-19 were reported in the Parma Province, with a median age of 83 years. The ADS system identified 408 of these deaths, whereas ISTAT certified only 347. Three hundred and seven deaths were identified by both flows. CONCLUSIONS: The survey suggests that the ADS surveillance system may have overestimated the COVID-19 mortality data compared to the ISTAT flow. The ADS has been valuable in the immediate response to emergencies, providing a more sensitive system that prioritizes the precautionary principle and enables decisions aimed at minimizing risks for vulnerable populations. However, it is not recommended for routine surveillance, as it is less reliable compared to the ISTAT flow.

Can we get out of the COVID pandemic without adequate vaccination coverage in the pediatric population?

BACKGROUND: During the first and second COVID-19 pandemic waves, children, despite susceptible to SARS-CoV-2 infection, appeared at lower risk of severe disease, hospitalization, and death than adults and the elderly. Moreover, they seemed to play a minor role in the diffusion of the virus. The aim of this manuscript is to show epidemiological surveillance on COVID-19 incidence and hospitalization in the pediatric cohort in order to explain the importance of an adequate COVID-19 vaccination coverage in the pediatric population. METHODS: All subjects with documented SARS-CoV-2 infection diagnosed in Parma, Italy, between February 21st, 2020, and January, 31st, 2022, were recruited in this epidemiological surveillance. Diagnosis of infection was established in presence of at least one respiratory specimen positive for SARS-CoV-2 nucleic acid using a validated real-time reverse-transcriptase polymerase-chain-reaction (RT-PCR) assay. RESULTS: The number of COVID-19 pediatric cases remained very low and lower than that recorded in the general population between early February 2020 and the end of October 2021, despite in the last part of this period the Delta variant emerged. On the contrary, starting from November 2021, a sharp and significant increase in COVID-19 incidence in the pediatric population was evidenced. This was detected in all the age groups, although greater in the populations aged 5-11 and 12-17 years old. Interestingly, the peak in hospitalization rate was observed in children < 5 years old, for whom COVID-19 vaccination is not approved yet. At the beginning of November 2021 among people older than 18 years of age 85.7% had completed the primary series of COVID-19 vaccine. Almost all the infants and pre-school children were susceptible. Until January 31st, 2022, 80.4% of adolescents aged 11-17 years had received at least two doses of COVID-19 vaccine and only 52.4% received the booster. Among children 5-11 years old, on January 31st, 2022, only 28.5% had received at least one vaccine dose. CONCLUSIONS: Compared with adults and the elderly, presently a greater proportion of children and adolescents is susceptible to SARS-CoV-2 and could play a relevant role for the prolongation of the COVID-19 pandemic. Only a rapid increase in vaccination coverage of the pediatric populations can effectively counter this problem.

Influenza vaccine effectiveness in children: a retrospective study on eight post-pandemic seasons with trivalent inactivated vaccine.

BACKGROUND AND AIM OF THE WORK: The global burden of disease attributable to seasonal influenza virus in children is difficult to quantify. Children with chronic medical conditions and healthy children may experience severe or fatal complications. Aim of the study was to estimate the influenza vaccine effectiveness (VE) in a cohort of outpatient children. METHODS: From 2010 to 2018, a Pediatrician of Parma from the InfluNet network of Emilia-Romagna Region, performed nasal/throat swabs on every child with Influenza-like illness at least 14 days from the vaccination with trivalent vaccine. VE estimates against influenza season, virus type and subtype and age group were evaluated using a test-negative design. RESULTS: 2,480 swabs were performed. The 57.6% of the analyzed swabs were positive for influenza viruses. Type A (57%) and type B viruses (43%) co-circulated. The 37.1% of type A viruses belonged to subtype A(H3N2), 19.4% to subtype A(H1N1)pdm09. The subtype A(H3N2) was prevalent among children up to 23 months (42.4%) while the type B in the 2-4 (40.7%) and 5-16 year old age groups (49.4%). Overall, 19.9% of the children were vaccinated. The highest prevalence of vaccinated subjects was found in children aged 5-16 (30.5%). The VE against subtype A(H1N1)pdm09 was 63% (95%CI 42.6-76.0), against type B 27.5% (95%CI 7.9-42.9) and against subtype A(H3N2) -14.3%  (95%CI - 46.0-10.7). CONCLUSIONS: Our findings represent a useful contribution to the ongoing debate about the appropriateness of including influenza vaccination for healthy children, 6 months and older, in the updating National Vaccine Prevention Plan (PNPV).