Malattie rare

L’intelligenza artificiale nel percorso diagnostico terapeutico delle malattie rare: facciamo il punto…

Casieri F, Vitale D, Selicorni A.

2026/4 — pag. 235-240 — DOI

Artificial Intelligence (AI) is playing an increasingly pivotal role in the field of rare diseases, where diagnostic complexity and the limited availability of therapeutic options still pose significant challenges. Machine learning and deep learning ...

La Bioetica sul campo: una sfida per il neonatologo e il pediatra

Serra G, Antona V, Giuffrè M, Guardino M, Piro E, Vassallo A, Corsello G.

2023/10 — pag. 637-645 — DOI

The communication of a genetic disease or malformation syndrome diagnosis regards the relationship between the medical staff and the family of the affected newborn or child. It should be considered as any other clinical, diagnostic or therapeutic pro...

La riforma europea della legislazione farmaceutica

Marchetti F, Addis A

2023/7 — pag. 113-118 — DOI

The European reform of pharmaceutical legislation: more available, more affordable and more innovative medicines: dream or reality?...

La Genetica democratica

Marchetti F.

2022/5 — pag. 279-280 — DOI

2022, Pediatria nello spazio

Tamburlini G.

2022/1 — pag. 9-9 — DOI

La narcolessia è una malattia pediatrica: le red flags per riconoscerla

E. Antelmi, L. Vignatelli, I. Ceretelli, et al.

2020/1 — pag. 29-34

Rationale - Narcolepsy is a chronic rare disease that frequently develops in children. It is characterised by excessive daily sleepiness, cataplexy, sleep paralysis, hypnagogic and hypnopompic hallucinations as well as disturbed nocturnal sleep. More...

Le sfide della Medicina contemporanea

S. Maitz, A. Biondi

2018/10 — pag. 635

Malattie rare a cavallo dell’innovazione: una sfida etica e scientifica

A. Tommasini, A. Magnolato, S. Pastore, I. Bruno

2018/10 — pag. 628-634

Recent advances in medicine are providing new opportunities to treat rare and complex disorders. Precision therapies are being developed to target molecular processes crucial to the disease pathogenesis. Media often present technological advances r...

Le Giornate di Medico e Bambino. A Trieste Vaccinare sempre: dalla gravidanza in poi… Encefaliti mediate da autoanticorpi: un capitolo da conoscere bene Asma difficile: inutile alzare la dose di corticosteroidi inalatori Profilassi antibiotica per la cistouretrografia: SÌ! I bambini non vanno picchiati Kingella kingae: la più… bella del reame

2018/3 — pag. 147-148

Prevalenza di malattie rare fra gli assistiti dei pediatri di libera scelta di un distretto sanitario torinese

M. Fanì, M. Balani, G. Bottero Seminario, G. Grillone, C. Imperiale, L. Pastorin, U. Sala, R. Stella, K. Tavassoli, E. Tempesta, A. Vighetti, S. Ferro, G. Benna

2011/9 — pag. 601-602

Objectives - To detect the prevalence of rare diseases among the patients of family paediatricians in a health district in Turin, with particular regard to children under 15. Methods - Research carried out through the analysis of computerized cli...

Prevalenza di malattie rare fra gli assistiti dei pediatri di libera scelta diun distretto sanitario torinese

M. Fanì, M. Balani, G. Bottero Seminario, G. Grillone, C., L. Pastorin, U. Sala, R. Stella, K. Tavassoli, E., A. Vighetti, S. Ferro, G. Benna

2011/9

Objectives - To detect the prevalence of rare diseases among the patients of family paediatricians in a health district in Turin, with particular regard to children under 15. Methods - Research carried out through the analysis of computerized clinic...

Malattie rare, narrazioni, alleanza terapeutica

G. Masera, D. Taruscio

2011/2 — pag. 75-78

Equità

Medico e Bambino

2011/2 — pag. 75-78

Noi, quelli delle malattie rareIntervista a Margherita De Bac

2010/7 — pag. 455-456

Politiche sanitarie e salute infantile in Italia

L. Perletti

2009/9 — pag. 584-587

The organizational models of the supra-regional centres for rare diseases in some European countries are compared by reporting the cases of biliary atresia and cochlear implants in children. Once again Italy departs from Europe; the causes are exam...

Sintomi comuni per malattie rare Un approccio generale del pediatra ai pazienti con malattie rare

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi

2007/4 — pag. 230-236

As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered “specialists” in the cure of common problems, but also “common” patients and “common” symptoms can hide ...

Il database Orphanet dedicato alle malattie rare

A cura della Redazione

2006/7

Che cosa deve sapere il pediatra delle malattie rare

A. Ventura, A. Gagliardo, I. Berti, F. Marchetti

2003/5 — pag. 292

Rare diseases constitute a highly eterogeneous category of (mainly genetic) disorders. Even if the individual diseases are rare, due to their global incidence, rare diseases represent both an important cause of morbidity and mortality and a challen...

LE MALATTIE RAREL’attività del Centro Nazionale Malattie Rare

D. Taruscio

2003/5 — pag. 287

The National Centre for Rare Diseases was established in the year 2000 at the Istituto Superiore di Sanità, Italy. The primary objective of the Centre is to improve the quality of life of children affected by rare diseases, through the coordination...

Sindrome di Shwachman-Diamond: uno studio collaborativo

L. Giglio, P. Petaros, E. Neri, et al.

2002/2 — pag. 85-89

Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive character, with quite variable clinical expression, course and prognosis. The mechanisms of the disease are still not well understood, but effective symptomati...

Ai lettori

2000/9 — pag. 553