Genetic Diseases, Inborn

Screening genomici neonatali: opportunità e sfide etiche

De Curtis M.

2025/10 — pag. 643-645 — DOI

Neonatal screening is one of the most significant achievements in preventive medicine that enables the early detection and treatment of many rare metabolic and genetic disorders. The introduction of exome (WES) and genome (WGS) sequencing now offers ...

La pediatria della complessità: tutti per uno o ciascuno per sé?

Selicorni A, Macchiaiolo M, Mazzoni E, Memo L, Onesimo R, Faravelli F, Di Michele S, ZampinoG.

2024/4 — pag. 216 — DOI

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...

Un’insolita associazione: iperferritinemia e cataratta

Guardo C, Esposto MP, Chinello M, Cesaro S

2023/10 — pag. 217-218 — DOI

A 3-year-old boy presented with microcytic anaemia and hyperferritinaemia, in the absence of signs of iron overload. Once the main gastroenterological, rheumatological, haematological and infectious causes had been ruled out, despite the absence of s...

Due libri, una Pediatria

2023/8 — pag. 487 — DOI

La sindrome KBG

Carrer A, Mariani M, Selicorni A.

2023/5 — pag. 321-323 — DOI

La tecnologia genetica: ciò che ogni pediatra dovrebbe sapere

Mariani M, Cianci P, Cereda A, Maitz A, Giagnacovo M, Modena P, Iascone M, Selicorni A

2021/5 — pag. 291-301 — DOI

Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also...

La dimissione protetta del bambino clinicamente complesso

Lugli L, Garetti E, Rossi K, Torcetta F, Cuomo G, Lucaccioni L, Pugliese M, Bertoncelli N, Rossi C, Riva M, Iughetti L, Ferrari F, Berardi A

2021/3 — pag. 173-179 — DOI

Background - In the last few years care for children with severe chronic conditions is a topic of increasing interest. Children with chronic illness often require a high complexity of care and a high level of coordination among health services. Obje...

Implementazione dell’analisi dell’esoma nella pratica clinica: uno studio di fattibilità

A. Aversano

2020/4 — pag. 94-94 — DOI

Approccio metodologico “di base” al bambino con sospetta sindrome malformativa

P. Cianci, F. Zanetto, A. Biolchini, A. Selicorni

2016/1 — pag. 27-33

The diagnosis of a genetic syndrome is very important in the life of a child and of their family for various reasons. Thus, paediatricians should be alert because the possible starting manifestations of a syndrome are really very different and vari...

Il bambino con infezione da micobatteri non tubercolari

M. Caironi, R. Badolato

2015/10 — pag. 634-638

Localized mycobacterial infections of cervical lymph nodes are frequently observed in normal children. These types of infections are sustained by environmental mycobacteria and can be treated by surgical therapy. On the contrary, disseminated mycob...

Compagni di viaggio

M. Vidoni, G. Bravar, R. Lualdi

2015/5

Il pediatra e le sindromi nella pratica: dal dire al fare

S. Casagranda, C. Fossati, M. Taiana, F. Zanetto, L. Mauri, A. Biolchini, M.L. Rabbone, A. Selicorni

2015/3 — pag. 181-186

Background - Children with special health care needs are a new emerging category of patients in the landscape of the modern paediatrics. Discussion regarding the care of these children is very often related to the job of expert centres only. Howeve...

Diagnosi autismo già 12-18 mesi, un progetto a TriestePubertà in ragazze arriva un anno primaTroppe diagnosi sindrome iperattività bimbi, boom farmaciCambiano malattie bimbi, in corsia boom di quelle geneticheClown in corsia, meno dolore e giornate in ospedaleSempre più mamme in rete alla ricerca notizie salute figliXIXI Congresso neonatologia. I “quattro” pericoli per il neonato e i “quattro” colori che li identificanoIl sonno in sicurezza, bastano sei mosseArriva una app per misurare il dolore nel bambinoNas, il decalogo per i giocattoli sicuri15% ictus avviene in età giovanileDiabete giovanile. Pronto piano strategico per inserimento bambini a scuola

2013/9

Cosa deve sapere il pediatra delle sindromi

A. Selicorni

2013/2 — pag. 114-115

Una neonata con ipotonia e un viso particolare

A. Biasini, L. Rocchetti, L. Marvulli, M.R. Pizzitola

2012/9 — pag. 600-602

The cure and care of the children with congenital chronic disabilities is the real challenge for the hospital-territorial network cooperative model. This organizational strategy will achieve success only if all the caregivers work strictly together t...

Genetica, Immunologia, Infezione

F. Panizon

2011/7

Il database Orphanet dedicato alle malattie rare

A cura della Redazione

2006/7

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...

Gli stretti rapporti tra pediatra e genetista

P. Gasperini

2006/6 — pag. 347-350

Gen-Etica: di chi sono i geni?

B. Dallapiccola

2003/9 — pag. 575-580

The Author offers an overview of all the main ethical issues related to the recent advances of genetics. Special attention is paid to the following: options in assisted fertilization, recent developments in our understanding of genetic basis of dis...

I geni della malattia: la cura delle malattie genetiche

L.D. Notarangelo

2001/1 — pag. 24-29

The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes,...

Il pediatra e il DNA

L. D. Notarangelo

2000/9 — pag. 552