0000000000553838
AUTHOR
Cudia B.
A rare clinical entity: stump appendicitis. Case report and complete review of literature.
BACKGROUND: Stump appendicitis is a rare delayed complication post-appendectomy and it represents a diagnostic problem as clinicians are often not very familiar with this pathology. MATERIALS AND METHODS: One case of stump appendicitis has been reported in a 54 year old woman, whose acute phase was conservatively treated in our Department. A review of Medline literature was also carried out, from 1945 to 2015, showing 111 cases of stump appendicitis. RESULTS: Stump appendicitis has been reported after either open or laparoscopic appendectomy, in a range between days to several years from the first procedure. Nowadays, it is not considered yet as a possible differential diagnosis in patients…
Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family
Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it …