Cytoskeletal Proteins

Bambino immobile: pensa anche alla miocardite

Rivellino L.

2025/4 — pag. 253-256 — DOI

This report describes a case of acute myocarditis in a 2-year-old child. Acute myocarditis is most commonly secondary to viral infections and, less frequently, to immune disorders or drug reactions. Among the various viruses, parvovirus B19 is rec...

Una strana pancitopenia: dalla gestione in urgenza alla diagnosi genetica

Di Filippo M, Rossoni L, Nebiolo M, Fioredda F, Carrato V, Pirlo D

2024/10 — pag. 201-206 — DOI

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder caused by a mutation in the WAS gene that codes for the WASp protein, which is involved in the functioning of the cytoskeleton of non-erythroid haematopoietic cells. This mutation lea...

Un cuore grande così... dalla nascita

Troisi A, Bruno I, Ragni L, Nuzzo A, Marchetti F

2024/2 — pag. 30-31 — DOI

The diagnosis of dilatative cardiomyopathy due to a new mutation of MYH7 gene was eventually made in a 1-month-old infant presenting with dyspnoea and difficult feeding. ...

Terra firma-forme dermatosis Un probabile mastocitoma isolato

2022/3 — pag. 198 — DOI

Quello strano dolore toracico...

Palella JM, Lamberti R, Salvatici E, Banderali G

2021/7 — pag. 433-436 — DOI

Myocarditis is a rare pathologic condition in paediatric age. It occurs above all in childhood and adolescence. Generally, it is brought about by a typical association with viral infections that cause a massive activation of the inflammatory cascade ...

Mal di cuore

V. Moressa

2020/4 — pag. 93-93 — DOI

GenitorialitàTroponina elevata

2019/10 — pag. 624-625

Una salmonella di gran cuore

L. Mambelli, A. Fumarola, M.R. Genovese, M. Mainetti, C. Renzelli, F. Marchetti

2019/5 — pag. 322-324

Il neonato a colori: a strisce colorate (Arlecchino)

G. Corsello, M. Schierz

2018/10 — pag. 649-650

Una febbre ricorrente: Mare Nostrum

L. Timpone, P. Abate, M.G. Limongelli, S. Citarella, F. Gallicola, F. Quarantiello, E. Varricchio

2018/8

Distrofia muscolare di Duchenne:stato dell’arte su nuovi approcci terapeutici

S. Messina, E. Mercuri

2016/9 — pag. 565-571

Duchenne muscular dystrophy is an X-linked disorder with an incidence of 1 in 5,000 male live births and is the most common muscular dystrophy in childhood. The disease is characterized by progression of muscle weakness and contractures leading to ...

Un arlecchino per Diletta

F. Fusco

2015/1

Miocardite: la grande simulatrice

E. Benelli, M. Starc, E. Berton, M. Anzini, A. Benettoni, A. Ventura, G. Sinagra

2013/7 — pag. 429-434

Myocarditis is a rare, but life threatening disease in childhood. It is most often due to common viral infections; less commonly, it may result from bacterial infections, immune mediated diseases or chemotherapy. Myocarditis may present with unspec...

Nuovi concetti nel campo della distrofia muscolare di Duchenne

M. Pane, F. Bianco, C. Palermo, A. Graziano, E. Mercuri

2012/7 — pag. 429-435

Duchenne muscular dystrophy has an incidence of 1 in 3,500 male live births and is the most common muscular dystrophy in childhood. The “typical” course of the disease is characterized by progression of muscle weakness and contractures leading to l...

Distrofia muscolare di Duchenne: si può fare di più

2010/10 — pag. 663-664

Ancora biopsia? Forse no!

S. De Virgilis

2005/7 — pag. 437-455

Recently, serum of celiac patients affected by autoimmune hepatitis revealed autoantibodies directed against actin filaments (AAA). The preliminary results regarding AAA showed a strong correlation between AAA antibody titre and the severity of int...

Piastrinopenia isolata x-linked da mutazione missense del gene WASP: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

PIastrinopenia isolata x-linked da mutazione missense del gene Wasp: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

Piastrinopenia isolata X-linked da mutazione del gene WASP

2004/7 — pag. 450-450

Wiskott-Aldrich (WAS) and X-linked thrombocytopenia (XLT) are two disorders caused by different mutations of the gene WASP. WAS is characterized by recurrent infections, eczema, thrombocytopenia with low mean platet volume (MPV) and increased sus...

Una diagnosi sofferta

E. Faleschini, L. Lepore, F. Marchetti

2003/8 — pag. 532-534