Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Diagnostic Services

274 articoli — 1997-2026 Include sottocategorie MeSH

RI Problemi speciali
Guida essenziale alla gestione nutrizionale nello scompenso metabolico acuto in Pediatria

Cimador V, Candela E, Pancaldi C, Biasucci G, Bortolamedi E, Ortolano R, Baronio F, Lanari M.

2026/3 — pag. 161-166 — DOI

Background - Inherited metabolic diseases (IMDs) are a heterogeneous group of rare disorders in which nutritional management is the cornerstone of therapy, both in chronic and acute phases. In cases of acute metabolic decompensation, the timely imple...

RI Se la conosci la riconosci
La sindrome di Malan

Ramazzotti S, Nuvoli V, Baldo F.

2026/2 — pag. 114-117 — DOI

EL Casi indimenticabili
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...

EL I Poster degli specializzandi
Accesso libero
Diagnosi e gestione precoce del neonato con familiarità per disordine congenito dell'immunità

Laudante U, Falco G, Ferrandino C, Romano AC, Turchetti F, Romano R, Giardino G

2026/1 — pag. 23-23 — DOI

This study examines the role of early diagnosis in managing inborn errors of immunity, which are often characterised by early onset and high mortality. By analysing data from 15 patients with a positive family history, the research evaluated the util...

RI Articolo speciale
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 ...

RI Problemi speciali
Anche il naso vuole la sua parte: quando l’odore può essere diagnostico

Candela E, Tagliaferri F, Baldo F.

2025/8 — pag. 503-506 — DOI

The distinctive body smell of a newborn or a child may be the sign of an underlying inherited metabolic disorder, and sometimes even the sole diagnostic key to identify severe genetic conditions in life or death situations (such as a coma). A quick r...

RI Il graffio
Accesso libero
HEADSSS-up (… su la testa, ma col cuore)

2025/8 — pag. 487 — DOI

RI Aggiornamento
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...

RI Lettere
Il disturbo dello spettro autistico: lo screening precoce e il ruolo chiave del pediatra

Lecciso F, De Giovanni L, Gurrado R, Innocente M, Dellarosa AC, Margiotta ML, Levante A.

2025/7 — pag. 422-423 — DOI

RI Protocolli di diagnosi e terapia
Facciamo il punto sull’anemia falciforme

Tessitore A, Cuzzubbo D, Russo G.

2025/5 — pag. 296-298 — DOI

Sickle cell disease (SCD) is an increasingly relevant condition in Italy due to rising immigration from high-prevalence regions. Early diagnosis through newborn screening and comprehensive management - including hydroxyurea, antibiotic prophylaxis, t...

RI Neonatologia
Infezioni herpetiche invasive neonatali

Valencic I, Moratti M, Conti F, Nanni N, Ancora G.

2025/3 — pag. 171-175 — DOI

Herpetic infection is a condition with high rates of neonatal morbidity and mortality; to date, there is no universally recognized strategy for the perinatal management of the risk of Herpes Simplex Virus (HSV) transmission based on the prognostic va...

EL I Poster degli specializzandi
Accesso libero
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 ...

RI Ricerca
Accesso libero
Screening per il diabete mellito di tipo 1: la parola ai pediatri di famiglia

Solidoro S, Tamaro G, Mari J, Braida C, Faleschini E, Tornese G.

2024/10 — pag. 641-647 — DOI

The screening programme for type 1 diabetes mellitus shall be implemented nationwide in Italy in 2025 with the goal of early identification of at-risk individuals through the detection of anti-beta cell autoantibodies. This study explored the knowled...

EL Pediatria nella Comunità
Accesso libero
Bambini adottati all'estero nell'esperienza piemontese

Petri A, Barbaglia M, Burzio V, Partenope C, Minelli G, Avataneo C, Signorile F, Garazzino S, Rabbone I, Guala A

2024/10 — pag. 207-213 — DOI

Internationally adopted children present specific health and social needs that deserve a dedicated care. In Italy, in the majority of cases, their medical evaluation is conducted by specific outpatient units belonging to a group of the Italian Societ...

RI Pagine elettroniche
Un caso di FPIES in paziente alimentata con latte di formula per galattosemia

Fumagalli R, Crescitelli V, Barzaghi S, Pretese R, Lazzerotti A, Gasperini S.

2024/9 — pag. 597-600 — DOI

Soy-derived proteins are a known trigger for Food Protein Induced Enterocolitis Syndrome. The authors present the case of a sly onset of chronic FPIES in a newborn fed by soy-based formula. The baby’s nutrition was switched to infant formula to avoid...

EL Caso contributivo
Un caso di FPIES in paziente alimentata con latte di formula per galattosemia

Fumagalli R, Crescitelli V, Barzaghi S, Pretese R, Lazzerotti A, Gasperini S

2024/9 — pag. 168-170 — DOI

Soy-derived proteins are a known trigger for Food Protein Induced Enterocolitis Syndrome. The authors present the case of a sly onset of chronic FPIES in a newborn fed by soy-based formula. The baby’s nutrition was switched to infant formula to avoid...

EL Il punto su
Fidarsi o non fidarsi del test prenatale non invasivo. Riflessioni a partire da un caso di falso negativo

Neirotti A, Bombaci S, Rubino C

2024/9 — pag. 183-186 — DOI

Non-invasive prenatal testing (NIPT) is a screening for foetal chromosomal abnormalities that identifies at-risk pregnancies and is used to propose a possible invasive genetic confirmation testing in case of its positive results. For Down syndrome (t...

EL I Poster degli specializzandi
Accesso libero
Anticipare il futuro (di circa otto anni) per provare a cambiarlo

Di Cataldo G, Gauci MC, Gammeri C, Dierna F, Ferrera G, Gambilonghi F, Meli C

2024/7 — pag. 141-141 — DOI

A 14-day-old infant was diagnosed with classical homocystinuria through extended newborn screening after detecting hypermethioninemia and elevated homocysteine levels. The infant exhibited feeding difficulties and poor general health. Following a low...

EL I Poster degli specializzandi
Accesso libero
Una diagnosi difficile da accettare

Vrinceanu AM

2024/7 — pag. 139-139 — DOI

An 18-month-old girl presented with low weight. Her parents denied her sickle cell anaemia diagnosis, confirmed at birth and neglected in treatment. Social and legal intervention was needed to ensure disease management. The case emphasizes the import...

EL I Poster degli specializzandi
Accesso libero
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). ...

EL Casi indimenticabili
Colestasi neonatale e fibrosi cistica

Maggiore G.

2024/6 — pag. 116-117 — DOI

The diagnosis of cystic fibrosis was eventually made in a one-month-old infant with cholestasis. The newborn screening for cystic fibrosis had been falsely negative....

RI Il commento
Screening e comunicazione

Baronciani D.

2024/4 — pag. 249-250 — DOI

RI L'aria che tira
Screening per diabete mellito tipo 1 e celiachia: intenzioni, pregi e difetti

Tornese G, Greco L.

2024/4 — pag. 243-247 — DOI

Italy is the first country in the world to have introduced screening on the entire paediatric population for type 1 diabetes mellitus and coeliac disease. It will be preceded by a preparatory pilot study in 4 regions on approximately 5,000 children a...

RI Aggiornamento
Difetti congeniti dell’immunità: non solo le vecchie immunodeficienze

Tommasini A, Valencic E, Naviglio S.

2024/4 — pag. 219-226 — DOI

Inborn errors of immunity are a rapidly-developing area of clinical study. Based on the description of a small set of disorders with a significant risk of infection that may be identified with a small number of lab tests, the definition has been expa...

RI Pagine elettroniche
Sferocitosi: una famiglia... tre malattie!

Ferrara D, Giordano C, Borsellino Z, Cuccia L, Ruffo GB, Corsello G.

2024/1 — pag. 54-57 — DOI

The paper describes the cases of three siblings affected by Hereditary Spherocytosis (HS). The different clinical presentations in the same family are examples of the heterogeneity of this pathology. HS is a common inherited type of haemolytic anaemi...

RI Aggiornamento
Screening neonatale esteso

Malni I, Candela E, Baldo F, Assirelli V, Daniotti M, Procopio E, Ruoppolo M, Pession A.

2023/9 — pag. 563-567 — DOI

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The i...

EL I Poster degli specializzandi
Accesso libero
Il gioco delle parti: bronchiolite e drepanocitosi

Izzo BPE, Radice C, Pelliccia V, Graziani V, Marchetti F

2023/9 — pag. 200-200 — DOI

The case of a 2-month-old Senegalese infant with severe anaemia and RSV-related bronchiolitis is described. The Authors stress the role of common infections in leading to the diagnosis of sickle cell anaemia....

RI Problemi speciali
Disordini tiroidei nel bambino e nell’adolescente con trisomia 21

Molinari S, Fossati F, Gazzarri A, Lazzerotti A, Barzaghi S, Ocello L, Grimaldi C, Nicolosi ML, Biondi A, Cattoni A.

2023/6 — pag. 374-380 — DOI

Thyroid function disorders are the most frequently detected medical complication among patients with trisomy 21, with a reported prevalence ranging from 4-8% in childhood to 50% or more in adulthood. Over 1% of newborns with Down syndrome show clinic...

RI Organizzazione sanitaria
I bilanci di salute trent'anni dopo

Cavallo R, Frigeri M, Mayer M.

2023/5 — pag. 313-318 — DOI

The well-baby visit represented the transition from a “demand” medicine to a “supplied” medicine to identify early risk factors and problems in the psycho-physical development of the child. Therefore, a significant number of screenings were introduce...

RI ABC
Le prove coagulative nel bambino sano (seconda parte)

Romano F, Del Monte F, Ramenghi U, Parodi E.

2023/5 — pag. 307-311 — DOI

In Paediatrics, coagulation tests are often prescribed in children without bleeding symptoms, for example before surgery/invasive procedures, or in case of family history of coagulopathy. Moreover, sometimes impairment in coagulation tests is occasio...

RI Lettere
Il chatbot dei poveri

Basile L.

2023/5 — pag. 284 — DOI

RI Se la conosci la riconosci
Lo spettro della sindrome Cornelia de Lange

Prada E, Mariani M, Selicorni A.

2023/3 — pag. 183-185 — DOI

RI Casi indimenticabili
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....

RI Se la conosci la riconosci
Sindrome dell’X fragile

Carrer A, Mariani M, Selicorni A.

2023/2 — pag. 119-120 — DOI

RI Pagine elettroniche
L’integrazione di differenti prospettive sullo sviluppo del bambino: l’osservazione del genitore e quella del pediatra

Clavenna A, Segre G, Roberti E, Costantino I, Scarpellini F, Tessarollo V, Bonati M

2023/1 — pag. 55-58 — DOI

Objective - To assess the feasibility of a shared approach that combines the clinical expertise of family paediatricians and the perspectives of parents in the early identification of potential disorders in children using standard clinical practice t...

RI Appunti di Neuropsichiatria
Screening del funzionamento psicologico: l’ottavo segno

Ghirigato E, Corona F, Cozzi G, Carucci S, Barbi E.

2023/1 — pag. 31-37 — DOI

Mental health problems are a significant cause of disability in children and adolescents. The most common are anxiety, depression, eating disorders and somatic symptom disorder. All these disorders have a negative impact on the child/adolescent funct...

EL Ricerca
Accesso libero
L’integrazione di differenti prospettive sullo sviluppo del bambino: l’osservazione del genitore e quella del pediatra

Clavenna A, Segre G, Roberti E, Costantino I, Scarpellini F, Tessarollo V, Bonati M

2023/1 — pag. 1-3 — DOI

Objective - To assess the feasibility of a shared approach that combines the clinical expertise of family paediatricians and the perspectives of parents in the early identification of potential disorders in children using standard clinical practice t...

EL Ricerca
Infezione congenita da citomegalovirus e ipoacusia

Gambacorta V, Orzan E, Lapenna R, Ricci G

2022/10 — pag. 195-199 — DOI

Background - Cytomegalovirus (CMV) infection is the most common of congenital infections, with a prevalence of 0.3-1.2% in industrialized countries and is the most frequent non-genetic cause of permanent hearing loss in children, with an incidence ra...

RI Pagine elettroniche
Screening della colonizzazione vagino-rettale da streptococco di gruppo B in gravidanza

Fangazio M, Melis S, Maglione S, Sfregola G, Barbaglia M, Finale E, Guala A.

2022/8 — pag. 527-530 — DOI

Group B beta-haemolytic streptococcus (GBS) is a bacterium that colonizes the genito-intestinal tract of many women and is one of the main causes of neonatal sepsis if screening and antibiotic prophylaxis are not carried out during pregnancy. The bes...

RI Editoriali
Accesso libero
Screening per streptococco B in gravidanza, possiamo migliorarlo?

Berardi A, Creti R.

2022/8 — pag. 483-484 — DOI

EL Pediatria per l'ospedale
Screening della colonizzazione vagino-rettale da streptococco di gruppo B in gravidanza

Fangazio M, Melis S, Maglione S, Sfregola G, Barbaglia M, Finale E, Guala A

2022/8 — pag. 163-167 — DOI

Group B beta-haemolytic streptococcus (GBS) is a bacterium that colonizes the genito-intestinal tract of many women and is one of the main causes of neonatal sepsis if screening and antibiotic prophylaxis are not carried out during pregnancy. The bes...

RI Appunti di Neuropsichiatria
Uno sguardo al neurosviluppo raggiunto ai 2 anni di età

Segre G, Costantino I, Scarpellini F, Tessarollo V, Clavenna A, Bonati M.

2022/5 — pag. 313-323 — DOI

When a child develops a psychological disorder, even a mild one, early diagnosis is essential to provide a timely and appropriate intervention that can improve the child’s symptoms and development. Early identification can prevent consequences of dif...

RI Editoriali
Accesso libero
La Genetica democratica

Marchetti F.

2022/5 — pag. 279-280 — DOI

EL Caso contributivo
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. ...

RI Casi indimenticabili
La storia dell’atrofia muscolare spinale: questione di tempo

Sutera M, Bruno I

2022/4 — pag. 255-258 — DOI

The authors present the case of a girl diagnosed with spinal muscular atrophy (SMA) and discuss how the new therapeutic approaches may change the prospect of life of the affected patients....

RI Problemi speciali
Diagnosi delle colestasi neonatali e infantili

Maggiore G, Della Corte C.

2022/4 — pag. 244-248 — DOI

Neonatal and infantile cholestasis (NIC) may represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical treatment. Timely recognition of NIC and identification of the underlying aetiology are para...

RI Casi indimenticabili
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...

RI L'angolo degli specializzandi
Ipoglicemie neonatali: dal sapere al saper fare

Schiulaz I, Paviotti G.

2022/1 — pag. 47-50 — DOI

RI Problemi speciali
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...

RI Farmacoriflessioni
Vitamina D e letteratura: fatti e misfatti

Contorno S, Pecile PA.

2021/10 — pag. 646-649 — DOI

In the last twenty years, the international scientific literature paid particular attention to vitamin D deficiency. Many pathological conditions, like allergy, asthma, cancers, autoimmune, cardiovascular and infectious diseases were attributed to vi...

EL Caso contributivo
L’omocistinuria classica in età pediatrica

Ravaglia A, Costagliola G, Spada M

2021/10 — pag. 309-313 — DOI

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increas...

RI Speciale
Neuropsichiatria infantile

Carucci S, Abbracciavento G

2021/26 — pag. 10 — DOI

RI Pagine elettroniche
Le masse surrenaliche nella sindrome di Beckwith-Wiedemann: un algoritmo diagnostico

Borraccetti N, Bruno I, Lambertini AG, Casadio L, Radice C, Donati I, Piccinini G, Minguzzi MT, Marchetti F

2021/5 — pag. 333-334 — DOI

Children with Beckwith-Wiedemann syndrome (BWs) have an increased risk of developing embryonic tumours during the first few years of life. Predisposition to the development of tumours is closely related to molecular subtype and therefore the cancer s...

RI Aggiornamento
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...

EL Il punto su
Le masse surrenaliche nella sindrome di Beckwith-Wiedemann: un algoritmo diagnostico

Borraccetti N, Bruno I, Lambertini AG, Casadio L, Radice C, Donati I, Piccinini G, Minguzzi MT, Marchetti F

2021/5 — pag. 150-153 — DOI

Children with Beckwith-Wiedemann syndrome (BWs) have an increased risk of developing embryonic tumours during the first few years of life. Predisposition to the development of tumours is closely related to molecular subtype and therefore the cancer s...

RI Aggiornamento
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...

RI Il graffio
Accesso libero
Medico e Bambina

2021/3 — pag. 149 — DOI

RI Il graffio
Accesso libero
L’ottavo giorno

2021/2 — pag. 79 — DOI

RI Pagine elettroniche
OctoberFAST. Ovvero: segni e sintomi dei bambini sottoposti a tampone per SARS-CoV-2 nell’esperienza dei pediatri bergamaschi

Carrozzo R, Bonicelli I, Caldiani C, Altobelli M, Bacchini M, Vitali A, Contardi C, Mariani D

2021/1 — pag. 55-57 — DOI

Background - From the beginning of the SARS-CoV-2 outbreak, one major issue has been the early identification of infectious cases. It is particularly challenging to perform a symptom-based screening in the paediatric population because of the seeming...

EL Ricerca
Accesso libero
OctoberFAST. Ovvero: segni e sintomi dei bambini sottoposti a tampone per SARS-CoV-2 nell’esperienza dei pediatri bergamaschi

Carrozzo R, Bonicelli I, Caldiani C, Altobelli M, Bacchini M, Vitali A, Contardi C, Mariani D

2021/1 — pag. 1-8 — DOI

Background - From the beginning of the SARS-CoV-2 outbreak one major issue has been the early identification of infectious cases. It is particularly challenging to perform a symptom-based screening in the paediatric population because of the seeming ...

RI Problemi speciali
L’inquadramento delle ipoacusie in epoca neonatale e pediatrica

A. Feresin, M. Bevacqua, G. Del Piero, P. Staffa, E. Barbi, E. Orzan

2020/8 — pag. 505-511 — DOI

Conductive, mild-moderate hearing impairment in children is a very frequent condition after newborn hearing screening that easily leads to misdiagnosis. Conductive hearing impairment needs an accurate differential diagnosis to avoid inadequate treatm...

EL Casi indimenticabili
Certificati medici per attività sportiva

V. Grigoletto


2020/5 — pag. 112-112 — DOI

EL I Poster degli specializzandi
Accesso libero
Implementazione dell’analisi dell’esoma nella pratica clinica: uno studio di fattibilità

A. Aversano

2020/4 — pag. 94-94 — DOI

RI Il graffio
Accesso libero
L’Europa al tempo del coronavirus

2020/3 — pag. 147

RI Problemi speciali
AAA tiroide cercasi

A. Trombetta, G. Tamaro, F. Alberti, G. Tornese

2019/9 — pag. 573-576

The paper presents the case of a newborn with congenital hypothyroidism and iatrogenic hyperthyroidism after replacement treatment at proper dosage was started. Laboratory findings suggested the diagnosis of ectopic thyroid gland that was confirmed...

RI Neonatologia
Osservazione nel neonato a rischio di sepsi precoce

A. Berardi, C. Spada, M. Ciccia, M Capretti, G. Brusa, F. Sandri, E. Balestri, L. Rocca, L. Gambini, M. Azzalli, V. Rizzo, G. Piccinini, E. Vaccina, L. Lucaccioni

2019/6 — pag. 370-376

The approach to the newborn at risk of early-onset sepsis is a challenge. In the past the approach was mainly based on laboratory tests, which were poorly predictive and might cause repeated blood samples and unnecessary antibiotic therapies, with ...

RI Articolo speciale
Guide for Monitoring Child Development

G. Tamburlini, I. Ertem

2019/2 — pag. 91-96

Monitoring and promoting early child development is an increasingly important task of paediatric primary care services. There is consensus that the most effective approach includes both longitudinal surveillance and monitoring rather than one-shot ...

EL Casi indimenticabili
Galattosemia e lieto fine: importanza dello screening neonatale allargato

L. Pecoraro, E. Rigotti, A. Dianin, G. Gugelmo, G. Rodella, I. Monge, E. Tadiotto, M. Clemente, A. Bordugo

2019/1 — pag. 12-12

RI Il commento
Le sfide della Medicina contemporanea

S. Maitz, A. Biondi

2018/10 — pag. 635

RI Articolo speciale
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...

EL Casi indimenticabili
Una febbre ricorrente: Mare Nostrum

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

2018/8

RI Il graffio
Scienza e carrelli

2018/7 — pag. 419

RI Ricerca
Bambino adottato: non pensiamo solo alle infezioni!

C. Totaro, B. Bortone, P. Putignano, L. Galli, M. De Martino, E. Chiappini

2018/5 — pag. 307-312

Background - According to the most recent statistic report by the Italian Commission for International Adoptions, in the period 2014-2015 Italy was the Nation with the highest rate of adoptions in Europe and the second one worldwide, following the Un...

RI Problemi speciali
Dislessia: possibilità di individuazione precoce nello studio del pediatra

A. Giangrande, L. Giangrande

2018/5 — pag. 301-305

This paper explores the possibility of early detection of some risk factors for the development of dyslexia. It specifically focuses on phonological awareness and rapid automatized naming, which are two of the main cognitive abilities considered ab...

RI News box
Accesso libero
Celiachia: analisi dei dati 2016

2018/4 — pag. 219-222

EL Ricerca
Misurazione non invasiva della bilirubina in Neonatologia: limiti e potenzialità

G. De Bernardo, R.T. Scaramuzzo, F. Gabbriellini, B. Barni, I. Vannozzi, C. Tuoni, F. Dini, M. Ciantelli, A. Boldrini

2018/3

Background - Besides traditional bilirubin measurement methods, in the past few years transcutaneous measurement has become popular in Neonatal Care Units, as it is easy to use and painless. However, transcutaneous bilirubinometers are currently limi...

RI Digest
Accesso libero
Screening per i disordini del neurosviluppo

2017/9 — pag. 591-592

RI ABC
Il pGALS: un sistema di valutazione dell’apparato muscolo-scheletrico nei bambini in età scolare

S. Lazzeri, G. Simonini

2017/7 — pag. 455-459

The pGALS is a simple and effective assessment tool used to identify school-aged children with musculoskeletal pathology. The approach is aimed at the non-specialist in paediatric musculoskeletal medicine as a basic clinical tool to be used in conj...

EL I Poster degli specializzandi
Accesso libero
Un caso di pericardite ricorrente che nasconde una febbre mediterranea familiare

V. Gragnaniello, S. Ascione

2017/7

RI Pagine elettroniche
Modi diversi di sviluppare un diabete

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

2017/6 — pag. 395-396

EL I Poster degli specializzandi
Accesso libero
Modi diversi di sviluppare un diabete

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

2017/6

RI Editoriali
La fibrosi cistica nel 2017

B.M. Assael

2017/2 — pag. 75-77

RI Pediatria flash
Glutarico-aciduria di tipo 1

V. Carrato

2017/1 — pag. 44-46

RI Casi indimenticabili
Persone dietro lo screening... per la fibrosi cistica

G. Boschi

2016/9 — pag. 596-598

RI Casi indimenticabili
Il gene del G6PD, le varianti cliniche e... la minestrina della nonna

M.L. Tortorella, F. Colonna, L. Fanti

2016/8 — pag. 526-528

RI Il commento
L’ipoacusia: dalla diagnosi alla presa in carico

E. Orzan

2016/7 — pag. 458

EL I Poster degli specializzandi
Accesso libero
Screening e sorveglianza dell’ipoacusia in Friuli Venezia Giulia

M. Gregori

2016/6

EL I Poster degli specializzandi
Accesso libero
Dalla testa ai piedi... passando per la pancia

G. Zanella

2016/4

EL I Poster degli specializzandi
Accesso libero
Una diagnosi a tappe

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

2016/1

RI Casi indimenticabili
Una “famiglia Fabry”… per caso

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

2015/8 — pag. 529-530

EL Casi indimenticabili
Un colpo d’occhio… siculo

M.C. Lia, I. Giuseppin, A. Tonetto, P.G. Flora

2015/7

EL I Poster degli specializzandi
Accesso libero
Prevalenza dell’HPV nei bambini abusati e non

S. Ghirardo, M. Bramuzzo

2015/7

RI Casi indimenticabili
La concessione del telefono, ossia una mamma testarda, una pediatra ostinata

M.G. Stabile

2015/1 — pag. 50-52

RI Pagine elettroniche
Quanti sono gli assistiti di un pediatra di cure primarie che a scuola necessitano di “bisogni educativi speciali”?

F. Profetto, D. Cimino

2014/9 — pag. 597-598

The Ministry of Education, University and Research (MIUR) has identified three categories of schoolchildren who require special educational needs: children with disabilities, those with specific learning disorders (ASD) and those with social, eco...

EL I Poster degli specializzandi
Accesso libero
Due colestasi a confronto

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

2014/9

RI Pagine elettroniche
Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6 — pag. 397-399

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

RI Aggiornamento
Ipoacusia infantile permanente

E. Orzan, E. Ciciriello, R. Marchi, F. Ruta, F. Ceschin, C. Marchese, C. Falzone, G. Canteri, P. Bolzonello

2014/6 — pag. 361-368

Newborn hearing screening programmes, voluntarily carried out or regulated by regional norms, have developed themselves into a standardized health organization system in several Italian regions in a few years. Hospital-based programmes are generall...

EL Caso contributivo
Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

EL Ricerca
Lo screening pediatrico della nefropatia diabetica

C. Cusumano, S. Dioguardi

2014/2

Background - Diabetic nephropathy is a slow and progressive Diabetes Mellitus complication, with structural and functional alterations of the renal glomerulus. Objectives - The primary objective of the study is to evaluate the prevalence of transi...

RI Casi indimenticabili
La fibrosi cistica al tempo dello screening

F. Marchetti, G. Vieni, F. Pugliese, I. Venturi, V. Poletti, M. Ambroni, F. Battistini

2014/1 — pag. 49-51

EL Casi indimenticabili
DIV… ersi

I. Marinelli, M. Lepri

2013/9

RI Domande e risposte
Screening uditivo Vaccino anti-meningococcico di tipo B

2013/8 — pag. 532

RI Editoriali
Neonati e Streptococco di gruppo B: come semplificarsi la vita

S. Demarini

2013/8 — pag. 483-485

EL Caso contributivo
Due infezioni riemergenti in una bambina proveniente dall'estero

D. Le Serre, S. Virano, S. Garazzino, M. Pinon, C. Scolfaro, P.A. Tovo

2013/4

Emerging infectious diseases may be present in foreign-born children. The case of a 5-year-old female, born in Ethiopia, who arrived in Italy one month before is reported. Screening investigations performed at our Centre documented a positive QuantiF...

EL Caso contributivo
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...

RI Aggiornamento
La mucopolisaccaridosi di tipo I: l’importanza di una diagnosi precoce ai fini dei recenti progressi terapeutici

G. Andria, M. Caniglia, M. Castorina, G.V. Coppa, M. Di Rocco, C. Dionisi Vici, O. Gabrielli, E. Lanino, C. Messina, F. Papadia, R. Parini, A. Rovelli, M. Scarpa, M. Sibilio, M. Spada

2012/6 — pag. 361-370

The present contribution proposes a monograph on Mucopolysaccharidosis type I for the paediatrician. Mucopolysaccharidosis I is one of the most frequent forms of lysosomal storage diseases and is characterized by a wide range of clinical presentati...

RI Aggiornamento
Le patologie della tiroide nell’infanzia e nell’adolescenza

F. Chiarelli, S. Agostinelli

2012/3 — pag. 157-167

Thyroid diseases are the most common endocrinopathies in childhood and adolescence. Congenital hypothyroidism affects infants from birth. The neurocognitive outcome of these patients has been much improved with the newborn screening programmes. Aut...

RI Il commento
Il ruolo del pediatra nella cura del bambino con autismo

C. Raffin

2012/3 — pag. 174-177

RI Problemi speciali
Il deficit di glucosio-6-fosfato deidrogenasi

M. Bramuzzo, S. Lega, I. Bruno

2011/10 — pag. 648-652

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked inherited disorder and it is the most common enzymatic defect in the world. G6PD is an enzyme involved in the genesis of NADPH which preserves the cells from oxidative stress. G6PD de...

RI Pediatria flash
La microematuria tra normalità e patologia

2011/9 — pag. 596-597

EL Casi indimenticabili
Uno screening traditore

I. Giuseppin

2011/9

RI Pediatria flash
Trucchi del mestiere in oftalmologia

2011/7 — pag. 462-463

RI Pagine elettroniche ; Il punto su
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...

RI Il commento
Noè, Stocastica e la fibrosi cistica

B.M. Assael

2011/3 — pag. 182-184

RI Pagine elettroniche ; Ricerca
Epidemiologia degli autolesionismi e comportamenti suicidari in adolescenzaAnalisi della popolazione scolastica in due province del Friuli Venezia Giulia

S. Battistutta, C. Zanus, M. Montico, S. Cremaschi, M. Carrozzi

2011/1 — pag. 53-54

Background - Deliberate self-harm and suicide attempts are recognised as a growing health problem in adolescence. Nevertheless, epidemiological studies show a considerable variability in rates due to the difficulties in defining and recognizing suici...

RI Pediatria flash
I difetti di ossidazione degli acidi grassi

2010/8 — pag. 527-528

RI Pediatria flash
La fenilchetonuria

2010/7 — pag. 461-462

RI Aggiornamento
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...

RI Casi indimenticabili
Malattia di Charcot-Marie-Tooth

P. Fioretti, R. Camozzato

2010/6 — pag. 395-396

RI Pagine elettroniche ; Ricerca
Screening per minori adottati o recentemente immigrati da Paesi a rischio?Un'esperienza su 100 casi

F. De Franco, F. Colonna, E. Miorin, I. Robieux, E. Moretto, P. Aragona, L. Lubrano

2010/3 — pag. 191-192

100 children were studied, 72 recently immigrated with their family from developing countries (40% from sub- Saharan Africa) and 28 adopted from foreign countries. By protocol a complete physical examination and the following tests were performed...

RI Editoriali
Accesso libero
Screening per minori adottati o recentemente immigrati da Paesi a rischio?

G. Bona, M. Zaffaroni

2010/3 — pag. 143-144

EL Contributi Originali - Ricerca
Accesso libero
Screening per minori adottati o recentemente immigrati da Paesi a rischio? Un’esperienza su 100 casi

F. De Franco, F. Colonna, E. Miorin, I. Robieux, E. Moretto, P. Aragona, L. Lubrano

2010/3

RI Ricerca
Quali curve di crescita per la diagnosi precoce di eccesso ponderale in età scolare?

R. Tanas, A. Beccati, M. Marsella, A. Albertini, F. Celenza, G. Gilli

2010/2 — pag. 103-111

Objectives - The high incidence of obesity registered among children worldwide urgently requests the identification of simple, shared instruments for early diagnosis and treatment. The aims of our study were to illustrate how the choice of growth c...

RI Focus
Anche il pediatra se ne deve occupare?

G. Garrone, P. Levi, L. Luzzatto, M. Merlo, P. Morgando, G. Patrucco, D. Rollier

2009/5 — pag. 295-306

Post-partum depression is frequent: it affects about 10% of mothers but it is not always recognized and treated. It is a particular type of depression, whose characteristics are described in the present work. Post-partum depression, which very ofte...

RI Aggiornamento monografico
Atresia delle vie biliari: quali insidie per il pediatra?

R. Iorio, A.M. Salzano, F. Cirillo, G. Vallone

2009/4 — pag. 224-231

Biliary atresia (BA) is the most common pediatric cause of cirrhosis, end-stage liver disease and indication for liver transplantation. The clinical presentation is characterized by jaundice with yellow or dark urine and pale stools, which eventually...

RI Percorsi clinici
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...

EL Appunti di Terapia
Accesso libero
Il riflesso rosso nel neonato, nel lattante e nel bambino

G. Bartolozzi

2009/1

EL Pediatria per l'ospedale
Accesso libero
Lo screening dei lipidi e delle lipoproteine in pediatria (parte seconda)

G. Bartolozzi

2008/8

RI Problemi correnti
Il ruolo del pediatra nell’individuazione dei segni premonitori dell’autismo

S. Cremaschi, E. Alberini, G. Zappulla

2008/8 — pag. 504-509

Autism is a syndrome caused by a biologically determined developmental disorder. It develops in the first years of life and it mainly affects mutual social interaction, the ability of communicating ideas and emotions and of establishing relationshi...

EL Pediatria per l'ospedale
Accesso libero
Lo screening dei lipidi e delle lipoproteine in pediatria (Parte prima)

G. Bartolozzi

2008/7

RI Focus
Test rapidi: screening di massa o case finding?

S. Brusa, B. Battistini, M. Capelli, D. Silvestrini, S. Stanzani, M. Lanari

2008/6 — pag. 361-370

The Authors report an epidemiologic prospective screening study that aimed at evaluating the clinical prevalence of coeliac disease in Emilia Romagna region using the rapid test for coeliac disease (Eu-tTG Quick). 4,414 asymptomatic patients, recrui...

RI Editoriali
Accesso libero
Test rapidi, celiachia e... società

A. Ventura

2008/6 — pag. 347-350

Il Big Bang delle conoscenze sulla celiachia è stato segnato dalla progressiva disponibilità, in stretta successione temporale, di test diagnostici sempre meno invasivi e sempre più sensibili, specifici e rappresentativi dei meccanismi patogenetic...

EL Contributi Originali - Ricerca
Accesso libero
Cercare la celiachia con il test rapido: l'esperienza brasiliana

S. Crovella, L. Brandao, R. Guimaraes, J. de Lima Filho, L.C. Arraes, A. Ventura, T. Not

2008/6

EL Contributi Originali - Ricerca
Accesso libero
Cercare la celiachia con il test rapido: l'esperienza serba

R. Jokić, V.N. Perišić, D. Zivković a nome del gruppo lavoro

2008/6

RI Farmacoriflessioni
Il Pap-test? Certamente! La vaccinazione anti-HPV? Sì, eventualmente

M. Bonati

2008/4 — pag. 251-253

Human papillomavirus (HPV) is associated with an increased risk of cervical cancer. However, only a few infected women develop cervical carcinoma. Combined cytology and HPV DNA screening are effective preventive interventions. Today, two vaccines a...

RI Linee guida
Accesso libero
Il test del sudore

A CURA DELLA SOCIETÀ ITALIANA FIBROSI CISTICA

2007/8 — pag. 512-516

The quantitative measurement of sweat electrolytes following stimulation by pilocarpine iontophoresis remains the gold standard for the diagnosis of both classical, atypical forms of CF and the so called CF related diseases also in the genomic era. I...

EL Protocolli di diagnosi e terapia
Accesso libero
Le Raccomandazioni italiane sul Test del Sudore

A cura della Società Italiana Fibrosi Cistica

2007/7

EL Pediatria per l'ospedale
Accesso libero
Il Neuroblastoma (parte prima)

G. Bartolozzi

2007/7

RI Editoriali
Accesso libero
Vaccinazione anti-HPV: alcuni interrogativi per il pediatra

Simona Di Mario, Vittorio Basevi, Nicola Magrini

2007/5 — pag. 279

EL Appunti di Terapia
Accesso libero
Il trattamento prenatale della toxoplasmosi congenita

G. Bartolozzi

2007/3

EL Contributi Originali - Ricerca
Accesso libero
Screening per la displasia evolutiva dell'ancaImpatto sull'outcome diagnostico e terapeutico su una popolazione di 6152 bambini

E. Mazzoleni, F. Braga, R. Pelizzari

2007/1

RI Pagine elettroniche ; Ricerca
Screening per la displasia evolutiva dell’anca

E. Mazzoleni, F. Braga, R. Pelizzari

2007/1 — pag. 51-53

Developmental Dysplasia of the Hip (DDH) is the most important congenital deformity with regard to its incidence, functional and aesthetical consequences and treatment difficulties. The objective of our study was to evaluate a population-based scr...

RI Aggiornamento
La dimissione del neonato fisiologico. Dalla revisione del problema a un possibile protocollo

Riccardo Davanzo, Cristina Brondello, Roberto Cerchio

2006/9 — pag. 562-569

In the last decades worldwide, the length of hospital stay for newborns and their mothers after childbirth has dramatically shortened mainly due to economical reasons. This choice may imply some risks for the newborn. The present article highlights t...

RI Focus
Quello che un pediatra deve sapere sulla fibrosi cistica

G. Magazzù e collaboratori

2006/3 — pag. 155-173

The medical care of the patient with CF is ideally carried out with the joint efforts of the CF Center specialists and the patient’s primary care physician (PCP). The implementation of a nation-wide neonatal screening may represent a unique opportuni...

RI Focus
Screening e malattia celiaca

T. Not

2005/7 — pag. 449-455

From the clinical and the epidemiological point of view, celiac disease may represent an appropriate disease model to apply a population based screening strategy. In the literature, the use of human tTG antibodies is described as an efficient scree...

RI Focus
La celiachia dal vero: dal bambino all’adulto filo conduttore è l’anemia

T. Gerarduzzi, M. Lazzerini, F. De Franco, A. Lenhardt, I. Berti

2005/7 — pag. 434-455

RI Focus
Cari ragazzi

A. Ventura

2005/7 — pag. 432-455

RI Aggiornamento monografico
Sindrome adreno-genitale congenita da deficit di 21-idrossilasi

A. Balsamo, A. Cicognani

2005/5 — pag. 293-301

Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of adrenal steroidogenesis. More than 90% of CAH is due to 21-hydroxylase deficiency (21-OH-D), found in 1:10.000 to 1:15.000 live births as classical form and detected i...

EL Seminari degli specializzandi
Accesso libero
L'ipotiroidismo dalla nascita in poi

I. Berti, I. Giuseppin, R. Meneghetti

2005/3

RI ABC
Il test del sudore

V. Kiren, L. Travan, E. Barth

2004/9 — pag. 573-577

EL Caso Clinico Interattivo
Accesso libero
Una dattilite bilaterale simmetrica

M. Lazzerini

2004/2

RI Problemi non correnti
La sifilide congenita C’è ancora?

E. Tridapalli, et al.

2003/10 — pag. 663-669

Syphilis is a re-emerging infectious disease. Over the last decade, an increase in the incidence of congenital syphilis has been observed, due to higher numbers of migrants, drug users and sex workers among women in fertile age. Serologic screening...

EL Contributi Originali - Casi contributivi
Accesso libero
Storia di una famiglia con sindrome di Peutz Jeghers: importanza dello screening strumentale anche nei soggetti asintomatici

S. Centuori, S. Martellossi, L. Ammar

2003/9

RI Pagine elettroniche
Storia di una famiglia con sindrome di Peutz-Jeghers: importanza dello screening strumentale anche nei soggetti asintomatici

2003/9 — pag. 606

Report on two brothers with PJS and a positive family history. The first one symptomatic from when was 16 months; the second one asymtomatic underwent to EGDS when fifteen and after endoscopic removal of 6 polyps (the biggest >3 cm) develop emorra...

RI Problemi correnti
La promozione dello sviluppo neonatale e infantile: l’approccio Brazelton

G. Rapisardi, A. Davidson

2003/3 — pag. 171-176

The Neonatal Behavioural Assessment Scale (NBAS) is a standardised tool to assess term newborn babies and young infants, based on the observation of the spontaneous behaviour of the baby and of his/her interaction with the caretaker. The tool is ai...

RI Aggiornamento
Il deficit di alfa1-antitripsina in età pediatrica

L. Giglio, I. Berti, C. Trevisiol

2003/3 — pag. 155-161

Alpha 1-antitrypsin deficiency (AATD) is an autosomal recessive disease, with more than 70 genetic variants, and a frequency which varies from 1:1000 to 1:5000, depending on genetic epidemiology and screening methods. The AATD involves primarily th...

RI Focus
Prevalenza dell’ADHD in bambini seguiti dal Pediatra di Famiglia

S. Corbo, F. Marolla, V. Sarno, et al.

2003/1 — pag. 22-32

Three family paediatricians carried out a survey of ADHD among their patients. Six simple screening questions and a checklist were used. 19 children, out of 794 referred to their office, fulfilled the ADHD criteria. Out of these children, 16 were r...

RI Editoriali
La legge inversa dell’evidenza

G. Tamburlini

2003/1 — pag. 7-8

RI Editoriali
Accesso libero
SGB nel neonato. Nuove raccomandazioni 2002 del CDC (Atlanta)

R. Davanzo

2002/9 — pag. 560

RI Aggiornamento monografico
Accesso libero
La profilassi dell’infezione neonatale da streptococco di gruppo B

A. Berardi, K. Rossi, C. Bussetti, F. Ferrari

2002/9 — pag. 571-578

Group B Streptococcus is the leading cause of vertically transmitted neonatal bacterial infections. The consequence of early and late-onset infections can be fatal diseases or severe neurological sequelae, when central nervous system is involved. M...

RI Pagine elettroniche
Accesso libero
Prevalenza del disturbo da deficit dell’attenzione con iperattività: una ricerca sul campo, a Roma

2002/9 — pag. 605-606

Over 9 months, 3 family paediatricians identified through 6 simple screening questions and a checklist 19 children, out of 794 referred to their office, who fulfilled the ADHD criteria. Out of these children, 16 were reassessed by an infantile neu...

EL Appunti di Terapia
Accesso libero
Strategie preventive nella malattia da streptococco gruppo B del neonato

G. Bartolozzi

2002/7

RI Editoriali
Accesso libero
Devolution

F. Panizon

2002/7 — pag. 415-417

EL Editoriali sui contributi originali
Accesso libero
Autismo e intestino: anche celiachia?

T. Not

2002/6

EL Contributi Originali - Ricerca
Accesso libero
Lo screening uditivo neonatale: un'esperienza a misura di Nido

M. C. Alberelli, L. Pavanello, E. Orzan.

2002/5

RI Pagine elettroniche
Accesso libero
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...

RI Pagine elettroniche
Accesso libero
Lo screening uditivo neonatale: una esperienza a misura di Nido

2002/5 — pag. 325-326

Report of an otoacoustic emissions screening carried out at a nursery. The cost calculated for each case of deep hearing loss identified at birth ranges from 1200 to 2400 Italian euro....

RI Pagine elettroniche
Accesso libero
La Pediatria di comunità in Emilia-Romagna

2002/3 — pag. 191

Analysis of the community activities performed in an Italian region, their results (vaccination coverage, screening coverage, assistance to chronic and extra-community children) and their changes during the last three years....

EL Editoriali sui contributi originali
Accesso libero
EDITORIALE

I. Berti

2002/1

EL Contributi Originali - Ricerca
Accesso libero
Studio in pediatria di base della prevalenza della celiachia in soggetti a rischio o con sintomatologia d'allarme

D. Ferrara, S. Teresi, A. Aloisio, C. Amoroso, B. Amoroso, A.M. Barresi, F. Cangemi, C. D'Andrea, M. Di Gregorio, E.Gucciarno, F. Grassa, T. Guzzetta, N. La Macchia, L. Palmeri, G. Papa D'Amico, M. Pipia, G. Portera, B. Rinaudo, S. Saccà, V. Sannasardo, N. Sirchia, A. Spataro, S. Spedale,

2002/1

RI Problemi non correnti
Accesso libero
Lo screening della microangiopatia diabetica

F. Chiarelli, D. Trotta

2002/1 — pag. 37-40

Retinopathy and glomerulopathy are among the most severe complications of type 1 diabetes. Retinopathy is relatively common in early onset diabetes. The best screening method for diabetic retinopathy is stereoscopic color fundus photography. Microa...

EL Contributi Originali - Ricerca
Accesso libero
Dislessia: indagine epidemiologica in una Scuola Elementare di Palermo

A. Spataro, I. Mirabile

2001/7

EL Editoriali sui contributi originali
Accesso libero
commento a:Dislessia: indagine epidemiologica in una Scuola Elementare di Palermo

A. Scabar

2001/7

RI Problemi correnti
Accesso libero
Celiachia: dove si nasconde?

L. Greco, S. Errichiello

2001/7 — pag. 437-447

The article offers an overview, based on 329 bibliographic references, of coeliac disease. Typical as well as atypical presenting signs and symptoms are described. The main clinical features, the complications and the associated syndromes and disea...

RI Pagine elettroniche
Accesso libero
Dislessia: indagine epidemiologica in una scuola elementare di Palermo

A. Spataro, I. Mirabile

2001/7 — pag. 463-464

In a primary school the teachers identified 25 children out of 276, through a reading and writing screening test. Out of these, the educational psychologist and the paediatrician diagnosed 9 children as affected by dyslexia. Screening for dyslexia...

RI Casi indimenticabili
Accesso libero
Celiachia, celiachia: il testing non basta

D. Sambugaro

2001/5 — pag. 323-324

RI Medicina e società
Accesso libero
Il bambino nato da genitori non italiani

G. Bartolozzi

2001/2 — pag. 101-107

The demographic and health profile of children who are residents in Italy and were born from non italian families has rapidly changed over the last few years. The biggest group is now represented by babies born in Italy from non italian parents: th...

RI Editoriali
Accesso libero
Il pediatra e il DNA

L. D. Notarangelo

2000/9 — pag. 552

RI L'angolo del genetista
Accesso libero
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

RI Editoriali
Accesso libero
Elettrocardiogramma gratis nel primo mese di vita, ovvero: il Ministro non legge M&B

F. Panizon

2000/8 — pag. 483

RI Pagina verde
Accesso libero
Testing: alla ricerca dei celiaci ignoti

M. Narducci, L. Mauri, L. Castelli, et al.

2000/7 — pag. 463-464

According to literature, we identified 32 coeliac disease-related conditions which can be divided into the following categories: symptoms, signs, pathologies, instrumental and laboratory tests, familiarity. During one year, 34 paediatricians in Mi...

RI Aggiornamento monografico
Accesso libero
Evidenze sulla SIDS

R. Buzzetti, L. Ronfani

2000/4 — pag. 223-233

Although current data may be not accurate due to absence of a national register, SIDS is the the main cause of death in infants after the first month in Italy, with an estimated incidence around 0.5 per thousand live births.The Authors summarise th...

RI Focus
Accesso libero
Lo screening della celiachia: le ragioni del medico dell’adulto

B. Ciacci

2000/1 — pag. 26-30

The clinical features of coeliac disease diagnosed in a series of 517 adult patients are described. The most frequent signs and symptoms are iron deficiency anemia, which is particularly prevalent among women, bone demineralization, diarrohea and m...

RI Focus
Accesso libero
CELIACHIA: DAL BAMBINO ALL’ADULTOCeliachia, autoimmunità e altro: sei famiglie e una lettera

A. Ventura, P. Petaros, T. Gerarduzzi, G. Torre, S. Martelossi, M. Persic

2000/1 — pag. 19-30

Six families are described where more than one component was diagnosed as coeliac. The reported cases provide strong evidence of both the genetic background and the broad clinical spectrum of gluten intolerance. Most cases did not show any gastroin...

RI Editoriali
Accesso libero
Celiachia: screening sì, screening no. O cosa?

A. Ventura, A. Tommasini

2000/1 — pag. 7-9

RI Editoriali
Accesso libero
Etica per il pediatra

F. Panizon

1999/9 — pag. 535-536

EL Protocolli in pediatria ambulatoriale
Accesso libero
Il sospetto di celiachia

S. Martelossi

1999/8

RI Aggiornamento monografico
Accesso libero
L’ipotiroidismo congenito

G. Tonini, M. Lazzerini

1999/8 — pag. 481-488

The incidence of Primary Congenital Hypothyroidism (PCH) is about 1:2000. Most cases are due to a dysgenetic/ectopic thyroid. Only in a small minority of cases a defect in the iodine metabolism is present. Congenital hypothyroidism secondary to a d...

EL Contributi Originali - Ricerca
Accesso libero
Un test immunoenzimatico rapido e semplice per ricercare gli anticorpi anti-transglutaminasi umana nella malattia celiaca

V. Baldas, A. Tommasini, C. Trevisiol, I. Bertii, A. Fasano, D. Sblattero, R. Marzari, A. Ventura, T. Not

1999/5

RI Pagina verde
Accesso libero
Un test immunoenzimatico rapido e semplice per ricercare gli anticorpi anti-trans-glutaminasi umana nella malattia celiaca

T. Not, V. Baldas, D. Sblattero, R. Marzari, A. Bradbury, V. Kiren, T. Gerarduzzi, C. Trevisiol, E. Neri, A. Città, S. Martelossi, G. Torre, A. Ventura

1999/5 — pag. 283-284

RI Pagina verde
Accesso libero
Prevalenza di malattie autoimmuni e di neoplasie in parenti di celiaci

P. Petaros, S. Martelossi, G. Torre, A. Ventura

1999/5 — pag. 283-284

RI Screening: luci e ombre
Accesso libero
L’infezione prenatale da Chlamydia trachomatis

D. Baronciani

1999/5 — pag. 327-328

RI Problemi non correnti
Accesso libero
L’infezione da HCV: ancora molte incertezze

L. Zancan, G. Svegliado, G. Guariso

1999/5 — pag. 311-314

HCV infection represents an emerging problem in an era of achieved control of HBV infection. There are still many open issues that the Authors briefly discuss. They regard the mechanisms of hepatic damage leading to chronic disease in a high propor...

RI Ricerca
Accesso libero
Cercare la celiachia “dentro e fuori” l’intestino

F. Andreotti, A. Baggiani, F. Fusco, D. Sambugaro, A. Ventura

1999/4 — pag. 253-255

Since highly sensitive and specific serologic tests were made available (AGAs and more recently EMAs) a high prevalence of coeliac disease has been found both in asymptomatic patients and in children affected by various clinical signs and diseases,...

RI Organizzazione sanitaria
Accesso libero
I tre paradossi della dimissione precoce

D. Baronciani, R. Bellu’, R. Zanini

1999/3 — pag. 181-183

The evidence on the health consequences of early newborn discharge are reviewed. Most of the studies on early discharge are aimed at showing that early discharge is safe and that no serious negative side effects are produced, rather than showing an...

EL Contributi Originali - Casi contributivi
Accesso libero
Fibrolipomatosi precalcaneale congenita:una curiosità che deve essere riconosciuta a prima vista

M. Cutrone

1999/1

RI Screening: luci e ombre
Accesso libero
L’infezione congenita da citomegalovirus

M. Pennesi, B. Cichetti, P. Piani

1999/1 — pag. 55-57

RI Problemi correnti
Accesso libero
I disturbi di apprendimento di letto-scrittura. Trattare o prevenire?

F. Ciotti

1999/1 — pag. 36-40

The prevalence of reading retardation in school children varies between 3,6% and 6% among 3rd-4th grade students. The Authors illustrates the diagnostic algorithm which is currently used to differentiate specific dyslexia from other learning proble...

RI Aggiornamento monografico
Accesso libero
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...

RI Aggiornamento monografico
Accesso libero
La displasia evolutiva dell’anca

G. Atti, P. Farina, P. Varni

1998/7 — pag. 431-438

Developmental dysplasia of the hip (DDH) describes a wide range of hip abnormalities, from a shallow acetabulum to a dislocated hip. The abnormality can be present at birth but also occur at later stages. Without therapy, patients with completel...

RI Editoriali
Accesso libero
La diagnosi clinica di reflusso vescico-urinario

M&B

1998/5 — pag. 280

RI Screening: luci e ombre
Accesso libero
L’ipoacusia neurosensoriale

D. Baronciani, A. Del Prete

1998/5 — pag. 327-329

RI Aggiornamento monografico
Accesso libero
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...

RI Focus
Accesso libero
Celiachia: diagnosi genetica?

L. Greco, B. Di Caprio

1998/2 — pag. 96-101

RI Screening: luci e ombre
Accesso libero
Screening ecografico delle malformazioni fetali

D. Baronciani

1998/2 — pag. 111-112

RI Screening: luci e ombre
Accesso libero
Appunti per una nuova rubrica

D. Baronciani

1998/2 — pag. 109-112

RI Linee guida
Accesso libero
Screening per una politica basata sull’evidenza

R. Buzzetti

1997/7 — pag. 449-454

The Author reviews the basic principles - such as ethics, quality effectiveness and cost, equity- that should inform screening programmes. The need for rigorous application of the epidemiological method for evaluating screening interventions is ...

RI Prevenzione
Accesso libero
A proposito dello screening uditivo

S. Chiappe

1997/3 — pag. 180-182

Although a screening approach is widely accepted as the method of choice for early detection of hearing loss in infants, in spite of recurring proposals of new methods, the “ideal” procedure has not yet been found. Thus, only limited success has...