Genetic Testing

La sindrome di Malan

Ramazzotti S, Nuvoli V, Baldo F.

2026/2 — pag. 114-117 — DOI

L’indizio nel rene, la chiave negli occhi

Gulisano C, Lugani F, De Benedetti E, Chiarenza DS, Verrina EE

2026/2 — pag. 41-41 — DOI

A 20-month-old boy with severe growth failure and Fanconi syndrome was diagnosed with nephropathic cystinosis, confirmed by corneal deposits and CTNS gene analysis. Despite septic complications, cysteamine therapy successfully stabilised his conditio...

Fibrosi cistica 2025: stato dell’arte e novità

Maschio M, Grazian F, Traunero A, Ghirardo S, Amaddeo A.

2025/7 — pag. 430-440 — DOI

Cystic Fibrosis is caused by the mutations in the CFTR chloride channel protein and is still one of the most common fatal genetic disease worldwide. It is a multisystem disease but, to date, most of its morbidity and mortality is due to muco-obstruct...

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A

2025/3 — pag. 72-72 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Una comune caduta per una rara diagnosi: un caso di emicrania emiplegica

Ferrera G, Gammeri C, di Cataldo G, Gauci MC, Dierna F, Biasco A, Greco F

2024/26 — pag. 8-9 — DOI

The Authors describe the case of a three-year-old girl with hemiplegic migraine triggered by mild trauma; the diagnosis was confirmed through genomic analysis (heterozygous missense variant c.1091>T in the ATP1A2 gene). ...

Lo spettro della sindrome Cornelia de Lange

Prada E, Mariani M, Selicorni A.

2023/3 — pag. 183-185 — DOI

Intolleranza al lattosio, test genetici Vaccino antipertosse e gravidanza

2023/2 — pag. 131 — DOI

Quando una mela al giorno… non toglie il medico di torno!

Calderara ML, Di Cesare Merlone A, Prada E, Atzeri F.

2023/2 — pag. 123-125 — DOI

The case of a 2.6-year-old boy with lypotimia after the ingestion of a herbal product is described. The diagnosis of fructose intolerance based on genetic test was eventually made....

Sindrome dell’X fragile

Carrer A, Mariani M, Selicorni A.

2023/2 — pag. 119-120 — DOI

Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici

Sciarrotta C, Bona I, Lo Cascio A, Corsello G.

2022/5 — pag. 328-329 — DOI

The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching. and the therapy...

La Genetica democratica

Marchetti F.

2022/5 — pag. 279-280 — DOI

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F

2022/5 — pag. 97-101 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Ipoglicemia in un neonato e iperinsulinismo

Risso FM, Tornese G.

2022/1 — pag. 56-58 — DOI

The authors describe the case of a newborn with hyperinsulinemic hypoglicemia due to a genomic variant, with paternal segregation, in ABCC8 gene. The therapeutic and prognostic implications are discussed...

Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Zanus C, Musante L, Faletra F, Carrozzi M, Costa P.

2022/1 — pag. 33-40 — DOI

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) d...

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...

Decifrare la bassa statura nei bambini

Chiarelli F, Castorani V, Polidori N

2021/3 — pag. 159-166 — DOI

Short stature is the most common cause of referral to paediatricians. Only a minority of children with short stature have an underlying pathology. Although well-established diagnostic and management paradigms do exist, recent advances in molecular te...

Disforia di genere: l’importante è aiutarli da piccoli Probiotici: miraggi e metanalisi Autismo: utilità clinica dei test genetici Nausea Neutropenia isolata Confronti in Pediatria

2020/9 — pag. 555-556 — DOI

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

A. Aversano

2020/4 — pag. 94-94 — DOI

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...

Una febbre ricorrente: Mare Nostrum

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

2018/8

Un caso di pericardite ricorrente che nasconde una febbre mediterranea familiare

V. Gragnaniello, S. Ascione

2017/7

Modi diversi di sviluppare un diabete

M. Pavan, A. Lora, G. Gortani, E. Faleschini

2017/6 — pag. 395-396

Modi diversi di sviluppare un diabete

M. Pavan, A. Lora, G. Gortani, E. Faleschini

2017/6

La diagnosi e la presa in carico di sindrome rara associata a ipoacusia

2016/7 — pag. 456-457

Una diagnosi a tappe

M.C. Pellegrin, M. Mariani, S. Maitz, A. Selicorni

2016/1

Una “famiglia Fabry”… per caso

S. Dal Bo, F. Pugliese, F. Marchetti

2015/8 — pag. 529-530

Dobbiamo dare il beta-bloccante a ogni bambino con il QT lungo?

V. Murgia

2015/6

Due colestasi a confronto

M. Massaro, E. Benelli, M.C. Pellegrin

2014/9

DIV… ersi

I. Marinelli, M. Lepri

2013/9

Una neonata con ipotonia ed un viso particolare

A. Biasini, L. Rocchetti, L. Marvulli, MR Pizzitola

2012/9

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...

Aspetti clinici inusuali e ingannevoli dell’acidosi tubulare renale distale all’esordio

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

2011/5 — pag. 329-330

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...

Screening neonatale metabolico allargatoIn arrivo una nuova realtà per la pediatria

I. Bruno, A. Ventura, A. Burlina

2010/7 — pag. 429-433

Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in...

Malattia di Charcot-Marie-Tooth

P. Fioretti, R. Camozzato

2010/6 — pag. 395-396

Tante sincopi con l’angoscia di correre

M. Copertino, F. Marchetti, A. Benettoni, et al.

2009/2 — pag. 105-111

This work reports the story of a 11-year-old boy with recurrent syncopes that occurred during the latest 4 years of his life, while he was under physical stress. Syncope is a common pediatric problem which implies the differential diagnosis between...

Test genetici per scoprire bambini a rischio di infartoScoperto il gene responsabile del neuroblastomaPiccoli giornalisti (con deficit dell'ormone della crescita) cresconoGli adolescenti che dormono poco sono a rischio ipertensioneJunior cup di calcio per giovani diabetici, trionfo italianoGeorgia, quasi 40.000 bambini hanno bisogno di urgente aiutoPannolino e infezioniDiscalculia: più diffusa della dislessiaItalia delle mamme e dei bimbi

Irene Bruno

2008/7

Il test del sudore

V. Kiren, L. Travan, E. Barth

2004/9 — pag. 573-577

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...

Il pediatra e il DNA

L. D. Notarangelo

2000/9 — pag. 552

La sindrome dell’X fragile: recenti acquisizioni e prospettive future

S. Vatta, E. Bevilacqua, A. Belgrano, M. Morgutti, A. Amoroso

2000/8 — pag. 522-525

Fibrosi cistica: dal gene alla pratica

L. Giglio, D. Faraguna

1999/1 — pag. 21-25

The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At pres...

Malattia granulomatosa cronica: una diagnosi che può sfuggire

C. Pignata, L. Balducci, M. Bardare e coll.

1998/3 — pag. 155-160

This is a comprehensive review article aimed at providing to paediatricians the basic knowledge on CGD and at improving the quality of care of patients affected by this rare disorder of cellular immune response. Since early diagnosis is very imp...

Celiachia: diagnosi genetica?

L. Greco, B. Di Caprio

1998/2 — pag. 96-101