Molecular Diagnosis

Un caso di diffusione intra-familiare di colera

Pozza A, Moneta I, Riscassi S, Pagani E, Aschbacher R, Mercolini F, Pescollderungg L, Battisti L

2024/2 — pag. 22-26 — DOI

Cholera is an acute diarrhoeal disease caused by Vibrio cholerae (VC) serogroups O1 and O139. Transmission is oro-faecal and it might lead to acute dehydration. The disease is still endemic in resource-poor countries, nevertheless importation cases ...

Aspetti clinici inusuali e ingannevoli dell’acidosi tubulare renale distale all’esordio. Utilità della diagnosi molecolare

G. Liccioli, A. Provenzano, S. Giglio, I. Pela

2011/5

Primary distal renal tubular acidosis (dRTA) is a genetic disease in which the α-intercalated cells of the collecting duct are unable to secrete H+ and to acidify urine, resulting in hypercloremic metabolic acidosis. Other biochemical alteration...

Dalla clinica alla genetica: il percorso di una famiglia in un caso di sindrome di Rett

2002/5 — pag. 325-326

Report of a case of Rett’s syndrome: the family refused the diagnosis of Rett’s syndrome. Instead, it accepted the diagnosis of mercury neurotoxicity and the relevant treatment. Finally, it accepted the final molecular diagnosis posed by in si...

FEBBRI PERIODICHESindromi febbrili periodiche in Pediatria

A. Tommasini, E. Neri

2001/4 — pag. 225-238

A literature review is presented covering the recent advances regarding molecular bases and clinical features of recurrent febrile syndromes in childhood. These include hypoimmune (cyclic neutropenia, benign neutropenia) and hyperimmune (mediterran...