The Italian multiple sclerosis register

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups

The Italian multiple sclerosis register

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups

Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

Introduction Over the years, disease registers have been increasingly considered a source of reliable and valuable population studies. However, the validity and reliability of data from registers may be limited by missing data, selection bias or data quality not adequately evaluated or checked.This study reports the analysis of the consistency and completeness of the data in the Italian Multiple Sclerosis and Related Disorders Register.MethodsThe Register collects, through a standardized Web-based Application, unique patients.Data are exported bimonthly and evaluated to assess the updating and completeness, and to check the quality and consistency. Eight clinical indicators are evaluated.ResultsThe Register counts 77,628 patients registered by 126 centres. The number of centres has increased over time, as their capacity to collect patients.The percentages of updated patients (with at least one visit in the last 24 months) have increased from 33% (enrolment period 2000-2015) to 60% (enrolment period 2016-2022). In the cohort of patients registered after 2016, there were >= 75% updated patients in 30% of the small centres (33), in 9% of the medium centres (11), and in all the large centres (2).Clinical indicators show significant improvement for the active patients, expanded disability status scale every 6 months or once every 12 months, visits every 6 months, first visit within 1 year and MRI every 12 months.ConclusionsData from disease registers provide guidance for evidence-based health policies and research, so methods and strategies ensuring their quality and reliability are crucial and have several potential applications

The role of cytokine gene polymorphisms in Alzheimer's disease.

Alzheimer\u2019s disease (AD) is a neurodegenerative disorder that preferenzially affects individuals above 60 years (yrs) with increasing risk in older ages. Neuropathological hallmarks of AD include brain atrophy, senile plaques and neurofibrillary tangles. There is also evidence that inflammatory processes may contribute to the development of AD through production of cytokines and free radicals that can damage and kill neurones.In this study, we have selected 25 late-onset AD patients (mean age 68 yrs) and 66 control subjects(CS) (mean age 64 yrs) without signs of dementia. AD diagnosis was performed according to DSM III R and NINDCS/ADRDA criteria. The Cytokine Genotyping Tray was used to analyze polymorphisms of the following cytokine genes: IL-1A,IL-1B,IL-1R,IL-1RA,IL-2,IL-4,IL-4RA,IL-6,IL-10,IL-2,TGFB,IFN-G,TNF-A. Genotype frequencies between AD patients and CS were compared using chi-square analysis and Fisher\u2019s exact twotailed tests.The results showed an increased frequency in AD patients as compared to CS of: 1) the high-producer-174G/C gene promoter phenotype (p<0.019); 2) the homozygous haplotype -1082A/-819T/-592A which is associated with low IL-10 production (p<0.021); 3) IL-1A (-889)allele T homozigousity (p<0.03) as well as homozygousity of IL-1B (-511)allele T (p<0.005). The combined analysis of the latter two genotypes was found to confer a greater risk of AD (OR 7.7, p< 0.001).No correlation was found with the other cytokine gene polymorphisms. In conclusion, our data support the hypothesis that a pro-inflammatory phenotype is associated with late-onset AD likely contributing to the development and/or the progression of the disease

"Pure" meningeal carcinomatosis as the autopsy-proven sole manifestation of an undetected cancer

Meningeal carcinomatosis (MC) was diagnosed in a 37-year-old woman, based on the finding of neoplastic cells in the cerebrospinal fluid. The patient had no relevant antecedent except the resection of a breast "nodule" at the age of 20. No primary cancer nor other metastases were detected, even at autopsy. Histopathology, immunocytochemistry and electron microscopy confirmed pure leptomeningeal infiltration by poorly differentiated adenoepithelial cancer. This case includes several unusual features and raises the possibility of an extremely long-lasting interval between an unrecognized primary (breast?) carcinoma and MC

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G→C) is reported in an HNPP family. By reverse transcriptase‐polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non‐functional protein

Concurrent benign tertiary syphilis and asymptomatic neurosyphilis in an immunocompetent patient

syphilis is known to be "the great imitator": since the patient's history is often deceiving and the spectrum of clinical signs and symptoms is extremely broad, diagnosis may be particularly challenging1,2 . Tertiary syphilis is rarely seen nowadays but it should be taken into account when dealing with granulomatous disorders of unclear nature. Indeed, up to 25% of the patients with untreated primary syphilis develop symptoms of tertiary syphilis, usually occurring three to five years after primary infection and involving several organs, mainly skin, heart and central nervous system

The changing face of multiple sclerosis: Prevalence and incidence in an aging population.

none9Solaro C;Ponzio M;Moran E;Tanganelli P;Pizio R;Ribizzi G;Venturi S;Mancardi G;Battaglia MSolaro, C; Ponzio, M; Moran, E; Tanganelli, P; Pizio, R; Ribizzi, G; Venturi, S; Mancardi, GIOVANNI LUIGI; Battaglia, M