Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

"Baseline physical functioning status of metastatic colorectal cancer patients predicts the overall survival but not the activity of a front-line oxaliplatin-fluoropyrimidine doublet"

BACKGROUND: No differences in response rate (RR), progression-free survival (PFS), overall survival (OS) and quality of life (QoL) were seen in patients randomly treated with biweekly oxaliplatin plus either fluorouracil/folinic acid or capecitabine. METHODS: We investigated the independent effect of baseline clinical characteristics and physical functioning (PF) domain on RR, PFS, and OS in 310 patients who completed the EORTC QLQ-C30 questionnaire. Multivariate analyses stratified by treatment were performed. An exploratory analysis was done by grouping patients with a PF score superior or equal to the highest quartile (n = 111), included between the highest and the lowest quartiles (n = …

Oncogeriatry: Communication, sharing, coordination of an emerging reality. The IIIrd Official Meeting of the AIOM Working Group on Oncogeriatry

The clinical management of the oncological elderly patient represents one of the most important challenges for today's oncology and, above all, for the future. The number of elderly patients with neoplastic pathologies is destined to increase proportionally to the duration of life and therefore a correct management of their conditions becomes an element of priority from the scientific and economic point of view. Close relationships and collaborations between Oncologist and Geriatrics are definitely desirable to be able to guarantee the best way for a good treatment (specific and of support) of these elderly patients. The components of the AIOM Working Group on Oncogeriatry have gathered the…

Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar de generation. Platform Presentation