Additional file1: Supplementary Table 1. Clinical, instrumental, histological and molecular features of CHKB-mutated MCMD patients reported so far (y: years; m: months; d: days; NA: not assessed; DCM: dilated cardiomyopathy; LVFS: left ventricular systolic function; PDA: Patent ductus arteriosus).

Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xlsx (MS Excel) spreadsheet exemplifies the transformation of the original 1KGP mutations—expressed in VCF format—into GDM genomic regions. As a demonstrative example, some variants about chromosome X have been selected from the source data (in VCF format) and listed in the first table at the top of the file. The values of columns #CHROM, POS, REF and ALT appear...

Background Frailty is a major health issue which impacts the life of older people, posing a significant challenge to the health system. One of the key emerging areas is the development of frailty interventions to halt or reverse the progression of the condition. In many countries, economic evidence is required to inform public funding decisions for such interventions, and cost-effectiveness models are needed to estimate long-term costs and effects. Such models should capture current clinical...

Although it has been proposed that childhood adversities (CAs) may affect the hypothalamic-pituitary-adrenal (HPA) axis activity and psychotic symptoms severity, these associations have not been fully confirmed in first-episode psychosis (FEP). This study explored the association between CA, cortisol and psychotic symptoms in FEP patients. 81 FEP patients were enrolled. CAs were evaluated by the Childhood Experience of Care and Abuse Questionnaire and a semi-structured interview. Psychotic symptoms were evaluated by the Positive and Negative...

Additional file 1.

Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). To understand the role of autophagy in the pathogenesis of glial tumors in vivo, we used an established Drosophila melanogaster model of glioma based on overexpression in larval glial cells of an active human EGFR and of the PI3K homolog Pi3K92E/Dp110. Interestingly, the resulting hyperplastic glia express high levels of key...

Psychotic disorders are frequently associated with decline in functioning and cognitive difficulties are observed in subjects at clinical high risk (CHR) for psychosis. In this work, we applied automatic approaches to neurocognitive and functioning measures, with the aim of investigating the link between global, social and occupational functioning, and cognition. 102 CHR subjects and 110 patients with recent onset depression (ROD) were recruited. Global assessment of functioning (GAF) related to symptoms (GAF-S) and disability (GAF-D)....

Background:Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset.Methods:We used data from the BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis), a multicentre multinational prospective observational study on CVT. Composite factors analysis (CFA) was performed to determine the impact on the age of CVT onset in males and females.Results:A total of 1309 CVT...

Abstract Background In 2020, the European Medicines Agency approved infliximab subcutaneous (SC) for the treatment of inflammatory bowel disease. This new mode of infliximab administration will reduce outpatient visits and costs of intravenous (IV) administration. This article describes a budget impact analysis of introducing infliximab SC to the Big-5 European (E5) market (Germany, France, Italy, Spain and UK) for 5 years, from the healthcare payer’s perspective. Methods A prevalence-based budget impact model was developed to...

Additional file 2. Example of transformed metadata: In this .xlsx (MS Excel) file, we list all the output metadata categories generated for each sample from the transformation of the 1KGP input datasets. The output metadata include information collected from all the four 1KGP metadata files considered. Some categories are not reported in the source metadata files—they are identified by the label manually_curated__...—and were added by the developed pipeline to store technical details (e.g., download date,...

Abstract Background Population variant analysis is of great importance for gathering insights into the links between human genotype and phenotype. The 1000 Genomes Project established a valuable reference for human genetic variation; however, the integrative use of the corresponding data with other datasets within existing repositories and pipelines is not fully supported. Particularly, there is a pressing need for flexible and fast selection of population partitions based on their variant and metadata-related characteristics. Results Here,...

Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). To understand the role of autophagy in the pathogenesis of glial tumors in vivo, we used an established Drosophila melanogaster model of glioma based on overexpression in larval glial cells of an active human EGFR and of the PI3K homolog Pi3K92E/Dp110. Interestingly, the resulting hyperplastic glia express high levels of key...

Abstract Background Metastatic breast cancer (MBC) is an incurable disease and its treatment focuses on prolonging patients’ (pts) overall survival (OS) and improving their quality of life. Eribulin is a microtubule inhibitor that increases OS in pre-treated MBC pts. The most common adverse events (AEs) are asthenia, neutropenia and peripheral neuropathy (PN). Methods PAINTER is a single arm, phase IV study, aimed at evaluating the tolerability of eribulin in MBC pts. Secondary objectives were the...

Additional file 2. Example of transformed metadata: In this .xlsx (MS Excel) file, we list all the output metadata categories generated for each sample from the transformation of the 1KGP input datasets. The output metadata include information collected from all the four 1KGP metadata files considered. Some categories are not reported in the source metadata files—they are identified by the label manually_curated__...—and were added by the developed pipeline to store technical details (e.g., download date,...

Abstract Background Population variant analysis is of great importance for gathering insights into the links between human genotype and phenotype. The 1000 Genomes Project established a valuable reference for human genetic variation; however, the integrative use of the corresponding data with other datasets within existing repositories and pipelines is not fully supported. Particularly, there is a pressing need for flexible and fast selection of population partitions based on their variant and metadata-related characteristics. Results Here,...

Although it has been proposed that childhood adversities (CAs) may affect the hypothalamic-pituitary-adrenal (HPA) axis activity and psychotic symptoms severity, these associations have not been fully confirmed in first-episode psychosis (FEP). This study explored the association between CA, cortisol and psychotic symptoms in FEP patients. 81 FEP patients were enrolled. CAs were evaluated by the Childhood Experience of Care and Abuse Questionnaire and a semi-structured interview. Psychotic symptoms were evaluated by the Positive and Negative...

Additional file 1.

Additional file 1. Table S1. List of the SNPs analysed. Table S2. Other uncommon Adverse Events–maximum grade. Table S3. QOL scores – change from baseline to third cycle. Table S4. QOL scores – change from baseline to end of treatment. Table S5. Frequency of variants of all the 15 SNPs and the prevalence of each polymorphism was compared with the expected prevalence in Europe. Table S6. Number of eribulin cycles based on previous neurotoxicity.

Additional file1: Supplementary Table 1. Clinical, instrumental, histological and molecular features of CHKB-mutated MCMD patients reported so far (y: years; m: months; d: days; NA: not assessed; DCM: dilated cardiomyopathy; LVFS: left ventricular systolic function; PDA: Patent ductus arteriosus).

Abstract Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mitochondrial membranes. Autosomal recessive CHKB mutations cause a rare form of congenital muscular dystrophy known as megaconial congenital muscular dystrophy (MCMD). Case presentation We describe a novel proband presenting MCMD due to unpublished CHKB mutations. The patient is a 6-year-old boy...

Background Frailty is a major health issue which impacts the life of older people, posing a significant challenge to the health system. One of the key emerging areas is the development of frailty interventions to halt or reverse the progression of the condition. In many countries, economic evidence is required to inform public funding decisions for such interventions, and cost-effectiveness models are needed to estimate long-term costs and effects. Such models should capture current clinical...

Abstract Introduction We aimed to assess harms (post-vaccine myocarditis and pericarditis) and benefits (preventing severe disease) of COVID-19 vaccination. Methods We conducted a population-based retrospective cohort study. Using the integrated platform of the vaccination campaign of Lombardy Region (Italy), after the exclusion of 24,188 individuals not beneficiaries of the Regional Health Service, 9,184,146 citizens candidates to vaccine at December 27, 2020 were followed until November 30, 2021 (the loss to follow-up rate was 0.5%). From...

Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xlsx (MS Excel) spreadsheet exemplifies the transformation of the original 1KGP mutations—expressed in VCF format—into GDM genomic regions. As a demonstrative example, some variants about chromosome X have been selected from the source data (in VCF format) and listed in the first table at the top of the file. The values of columns #CHROM, POS, REF and ALT appear...

Abstract Background Metastatic breast cancer (MBC) is an incurable disease and its treatment focuses on prolonging patients’ (pts) overall survival (OS) and improving their quality of life. Eribulin is a microtubule inhibitor that increases OS in pre-treated MBC pts. The most common adverse events (AEs) are asthenia, neutropenia and peripheral neuropathy (PN). Methods PAINTER is a single arm, phase IV study, aimed at evaluating the tolerability of eribulin in MBC pts. Secondary objectives were the...

Background:Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset.Methods:We used data from the BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis), a multicentre multinational prospective observational study on CVT. Composite factors analysis (CFA) was performed to determine the impact on the age of CVT onset in males and females.Results:A total of 1309 CVT...