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We aim to estimate the incidence rates (IRs) of SARS-CoV-2 infections stratified by disease severity and comorbidities in pediatric population and to describe the COVID-19 vaccination coverage in children with and without comorbidities. A population-based cohort study was conducted in 6 electronic healthcare records databases from Italy, Spain, and Norway. The study lasted from 1 January 2020 to the latest databases' available data in each site, i.e., in Italian ARS Tuscany and PEDIANET: December 2021, in Spanish BIFAP: February 2022; SIDIAP: June 2022, and VID: December 2021. Finally, in Norwegian Health Registries: December 2021. Children and adolescents were included and stratified into three age categories (< 5, 5- < 12, and 12- < 18 years old). IRs (95% confidence intervals) per 100 person-years (PY) for non-severe (positive SARS-CoV-2 test or diagnosis without hospitalization) and severe COVID-19 (hospitalization, intensive care unit admission, and death after COVID-19) are reported. The cumulative COVID-19 vaccination rollout was stratified by population with and without comorbidities. The study population comprised 5,654,040 individuals < 18 years of age (51% females) across the six European databases (median age: 6 years), with 1.4 to 8.5% of them having at least one at-risk comorbidity for severe COVID-19. Incidence rates of severe COVID-19 were low (0-1 per 100 PY) but 3 to 4 times higher among children and adolescents with comorbidities during Omicron BA.1-2 wave in December 2021-January 2022. Percentages of vaccination rollout in the general population were between 13% in PEDIANET-IT and 64% in BIFAP-ICU-ES. In ARS-IT and SIDIAP-IT, vaccination rate in children with comorbidities was slightly lower than that in the general population., Conclusion: Severe COVID-19 was rare across databases, but up to 3 to 4 times higher in children with comorbidities during the predominance of Omicron BA.1-2 variant in winter 2021-2022. COVID-19 vaccination coverage was slightly lower in children with comorbidities in ARS (Tuscany) and SIDIAP (Catalonia) data sources. Our findings will inform future public policies aimed to protect the pediatric population, both within these countries and globally., What Is Known: • Pediatric population is susceptible to SARS-CoV-2 infection. • COVID-19 severity rates in children vary across study settings and context., What Is New: • This study confirms the low severity rates of COVID-19 in the pediatric population based on a large cohort of children and adolescents residing in Spain, Italy, and Norway. • Incidence of severe COVID-19 in children and adolescents with comorbidities was up to 3 to 4 times higher than in the general pediatric population during the SARS-CoV-2 high transmission wave of Omicron BA.1-2 variant in winter 2021-2022 in Italy and Spain., Competing Interests: Declarations Ethics approval Most data partners that provided data for the herein-presented results had passed the local ethical review process for the whole COVID-19 Vaccine Monitor study (EUPAS42467); Norwegian data (NHR): Regional Committee for Research Ethics (approval number 155294/REK Nord) and the Data Protection Officer at the University of Oslo (approval number 523275); Valencian data (VID): Comité Ético de Investigación con Medicamentos del Hospital General Universitario de Elche (approval number: PI-90/2021); Catalonian data (SIDIAP): Comitè Ètic d'Investigació amb medicaments (CEIm) de l'IDIAP Jordi Gol (approval number: 21/199-PCV); and BIFAP (several Spanish regions): Comité de Ética de la Investigación con Medicamentos del Hospital Universitario de la Princesa and Comité Científico de BIFAP (approval number: CEIm 14/21). There was no need of ethical committee approval for Italian databases (ARS and PEDIANET). This research adhered to the rules and principles of the European Network of Centers of Pharmacoepidemiology and Pharmacovigilance (ENCePP) Code of Conduct. Consent to participate This research was conducted using secondary heathcare data. Informed consent to participate was not obtained. The whole COVID-19 Vaccine Monitor study (EUPAS42467) was conducted following the ENCePP Code of Conduct. Competing interests The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Although genetically heterogeneous, ARHSP-TCC is frequently associated with mutations in the SPG11 gene, on chromosome 15q. However, it is becoming evident that ARHSP-TCC can also be the clinical presentation of mutations in ZFYVE26 (SPG15), as shown by the recent identification of eight families with a variable phenotype. Here, we present an additional Italian ARHSP-TCC patient harboring two new, probably loss-of-function mutations in ZFYVE26. This finding, together with the report of a mutation in another Italian family, provides confirmation that ZFYVE26 is the second gene responsible for ARHSP-TCC in the Italian population.

Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found 11 patients (2.8%) carrying a heterozygous mutant GBA allele, whereas only one control subject (0.2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD., (2007 Movement Disorder Society)

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Background: The genes encoding myeloperoxidase (MPO) and alpha(2)-macroglobulin (A2M) are involved in molecular pathways leading to beta-amyloid deposition. Two polymorphic sites in these genes (MPO-G/A and A2M-Ile/Val) have been associated with Alzheimer disease (AD), but conflicting findings have been reported in populations with different ethnic backgrounds., Objectives: To study the association of MPO-G/A and A2M-Ile/Val polymorphisms with sporadic AD and to investigate the interactions among the MPO, A2M, and apolipoprotein E (APOE) gene polymorphisms in determining the risk of the development of AD., Design: Case-control study., Setting: Referral center for AD in Calabria, southern Italy., Participants: One hundred forty-eight patients with sporadic AD and 158 healthy control subjects., Results: The MPO-G and A2M-Val alleles were found more frequently in cases than in controls, as were the MPO-G/G and A2M-Val/Val genotypes. The odds ratio (OR) for the MPO-G/G genotype was 1.78 (95% confidence interval [CI], 1.13-2.80); for the A2M-Val/Val genotype, 3.81 (95% CI, 1.66-8.75). The presence of MPO-G/G and A2M-Val/Val genotypes synergistically increased the risk of AD (OR, 25.5; 95% CI, 4.65-139.75). Stratification of cases by sex, age at onset of AD, and APOE-epsilon 4 status did not show significant differences in the distribution of MPO or A2M polymorphisms., Conclusions: The MPO and A2M polymorphisms are associated with sporadic AD in southern Italy. Moreover, a genomic interaction between these polymorphisms increases the risk of the development of AD.

Although multiple sclerosis (MS) is considered to be an inflammatory demyelinating disease, increasing evidence indicates that it is also an axonal pathology; indeed, studies of experimental allergic encephalitis showed that several neuronal proteins such as synapsins take part in the pathogenesis of the axonal dysfunction. Synapsins are a family of abundant neuron-specific phosphoproteins with crucial roles in synaptogenesis and neuronal plasticity. Distinct genes encode the three different isolated proteins (I, II and III); of interest, the gene of synapsin III (SYN3) is located in the chromosome 22q12-q13, a locus close to one of the candidate susceptibility regions (22q13.1) for MS. In the present study we selected two polymorphisms (g.-631C > G and g.-196A > G) within the SYN3 5'-promoter region because of the protein's role and genetic location; we analysed the allele and genotype distributions of these polymorphisms in a selected MS population of southern Italy. An inverse association between MS and the g-631C > G polymorphism was found; indeed, the two polymorphisms were in almost complete linkage disequilibrium and the haplotype analysis showed that the C631/A196 haplotype seemed to confer a significant protection against MS.

To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.