Oxidoreductases

Wilson Wilson Wilson

Carciofi A, Pugliese F, D'alba I, Coccia P, Lionetti ME, Gatti S

2025/5 — pag. 120-121 — DOI

A 13-year-old boy was admitted with abdominal pain, vomiting and unexplained cytopoenia. Initial investigations showed splenomegaly, ileal wall thickening, hepatic structural alterations and persistent pancytopenia. Extensive infectious, haematologic...

Che sudori!

Benevenuta C, Caci AM, Calvo MM, Mussinatto I, Costagliola G, Tuscano A, Calosso G, Timeus FS

2024/10 — pag. 661-663 — DOI

The article presents the case of a one-year-old boy who was hospitalized for episodes of intense sweating, pallor, mild shortness of breath and hypertension. Tests revealed elevated LDH and catecholamines, and an ultrasound identified an 8 cm abdomin...

Che sudori!

Benevenuta C, Caci AM, Calvo MM, Mussinatto I, Costagliola G, Tuscano A, Calosso G, Timeus FS

2024/10 — pag. 215-216 — DOI

The article presents the case of a one-year-old boy who was hospitalized for episodes of intense sweating, pallor, mild shortness of breath and hypertension. Tests revealed elevated LDH and catecholamines, and an ultrasound identified an 8 cm abdomin...

Indagare cum “granuloma” salis: malattia granulomatosa cronica vs malattia di Crohn

C. Pantuso, M. Citrano, M. Giuffrè, G. Corsello

2020/5 — pag. 315-316

Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple ti...

Non solo ginecomastia peripuberale… aromatase excess syndrome (AEXES)

M. Mauro, L. Baggio, P. Cavarzere

2018/1

La leucemia ridotta all’osso: fatti e misfatti

A.G. Grasso, C. Radice, F. Corrias, F. Verzegnassi, F. Marchetti

2017/7 — pag. 428-434

Acute Lymphoblastic Leukaemia (ALL) is the most common cancer disease in paediatric age. Even though in the last decade there has been a steady improve of the chances of survival from this disease, it is relatively uncommon in the life of a general...

Glutarico-aciduria di tipo 1

V. Carrato

2017/1 — pag. 44-46

Malattia delle urine a sciroppo d’acero e screening neonatale metabolico allargato

2016/8 — pag. 524-525

La ginecomastia: cosa deve sapere il pediatra

M.C. Pellegrin, G. Patti, E. Faleschini, G. Tornese, A. Ventura

2016/6 — pag. 357-363

Gynecomastia is the glandular proliferation of male breast tissue, involving up to 65% of men in their lifetime. It is often a benign condition, but it can be the sign of a serious endocrine disease and the source of significant physical and psycho...

Insufficienza surrenalica: rara ma non troppo

G. Patti, G. Tornese, M.C. Pellegrin, K. Vecchiato, E. Faleschini, A. Ventura

2016/1 — pag. 21-26

Adrenal insufficiency is a rare condition in childhood. Clinical characteristics of adrenal insufficiency in children may be non-specific. Therefore, the diagnosis may be suspected late. If unrecognized, adrenal insufficiency may present with life-...

Partendo da MTHFR per arrivare all’omocisteina

2015/4 — pag. 252-254

Cifoscoliosi, ipotonia e iperlassità ligamentosa alla nascita: a quale sindrome pensare?

L. Matarazzo, C. Zanchi

2014/8

L’ipoglicemia da iperinsulinismo: la diagnosi, le cause, la gestione

F. Marchetti, V. Graziani, M. Cappella, G. Vieni, C. Muratori, T. Tosi, M. La Bianca, F. Faletra

2014/5 — pag. 309-314

The paper describes the case of a 3-month-old girl with seizures due to persistent nonketotic hypoglicaemia with moderate iperammoniaemia. Once tyrosinemia, urea cycle disorders, deficit of fatty-acids-beta-oxidation and other organic acidurias had...

Attacchi di panico? …Non sempre

M. Biagioni, S. Francolini, E. Moschini, G. Brusa, R. Genga, D. Carboni, N. Filomeni

2014/3

The paper describes the case of a 13-year-old girl with diagnosis of panic attack and treated with antidepressant therapy. She had sudden episodes of air hunger and difficulty in breathing that resolved spontaneously. She had a transient initial bene...

Una tumefazione del clitoride

V. Graziani, M. Mainetti, F. Currò, S. Dal Bo, P. Ghetti, A. Zucchini, F. Marchetti

2014/2 — pag. 113-115

Insufficienza epatica acuta nel bambino: non è tutto oro... (ma rame)

G. Maggiore, S. Riva, M. Sciveres, F. Cirillo

2014/2

La Codeina nell’adenotonsillectomia: nuove evidenze di rischio per un vecchio farmaco

V. Murgia

2013/5 — pag. 328-330

La Codeina nell’adenotonsillectomia: nuove evidenze di rischio per un vecchio farmaco

V. Murgia

2013/5

Rachitismo vitamina D-resistente: dalla clinica alla genetica, “andata e ritorno”

G.I. Baroncelli, B. Toschi, L. Cinquanta, P. Manfredi, A. Rossodivita, A. Michelucci, F. Baldinotti, S. Bertelloni

2013/2 — pag. 89-99

The term “vitamin D-resistant rickets” was used to describe a clinical condition which was indistinguishable from the common rickets except that the signs occurred in spite of adequate vitamin D treatment. Recent studies showed that vitamin D-resis...

Pubarca precoce, irsutismo, amenorrea e bassa statura: quale diagnosi?

A. Zucchini, F. Marchetti

2013/1 — pag. 35-38

Non-classical congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms. The article reports a case of NCCAH due to 21-hydroxylase deficiency in a 14-year-old girl with prem...

Malattia di Wilson: dieci motivi per (ri)parlarne ai pediatri

R. Iorio, G. Ranucci, D. Liccardo, M.G. Puoti, F. Di Dato

2012/8 — pag. 501-507

Wilson disease (WD) is an inherited autosomal recessive disorder of copper metabolism characterized by progressive copper accumulation in the liver and then in other organs, such as the nervous system, eyes and kidneys. In childhood, clinical prese...

Dalle curve di crescita alla diagnosi di sindrome adrenogenitale

D. Cimino, V. Giacchi

2012/7 — pag. 463-464

Non-classical congenital adrenal hyperplasia (NC CAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms (premature pubarche, accelerated growth, advanced bone age, penile enlargement, and hypertrophy of...

Dalle curve di crescita alla diagnosi di sindrome adrenogenitale

D. Cimino, V. Giacchi

2012/7

Non-classical congenital adrenal hyperplasia (NC CAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms (premature pubarche, accelerated growth, advanced bone age, penile enlargement, and hypertrophy of...

L’ossigeno nella rianimazione neonatale

E. Scalini, M. Manzionna

2012/4 — pag. 233-239

The article reports the partly exciting, partly tragic and partly confused, anyhow instructive story of the use of oxygen in neonatal intensive care. Oxygen, the “eminently breathable gas”, starts to be used in medicine already by the end of 1700. ...

I difetti di ossidazione degli acidi grassi

2010/8 — pag. 527-528

La fenilchetonuria

2010/7 — pag. 461-462

Leucemia linfoblastica acuta all\'esordio: quando nel dubbio è meglio fare...

G. Fusilli, V. Cecinati, G. Merico, M. Anna Piccione, G. Sarli, A. Granieri, G. Labalestra, F. Sarli, G. Russo, N. Santoro, D. De Mattia

2009/9

Leucemia linfoblastica acuta all’esordio: quando nel dubbio è meglio fare…

G. Fusilli, V. Cecinati, G. Merico, M.A. Piccione, G. Sarli, A. Granieri, G. Labalestra, F. Sarli, G. Russo, N. Santoro, D. De Mattia

2009/9 — pag. 597-598

Acute lymphoblastic leukemia is the most common malignancy diagnosed in children. We report the case of a female patient presenting with asthenia and limb pain when admitted to our Operative Unit of Pediatrics. Laboratory studies showed high leve...

La sclerodermia (seconda parte)

G. Bartolozzi

2009/8

Genetica ed epigenetica dell'obesità

F. Panizon

2009/7 — pag. 431-439

Obesity is, first of all, a matter of genetics and it better develops in conditions of more food availability and sedentary lives as it occurs in rich countries. The control of the energetic balance (intake > accumulation > dispersion) is connected...

Il rischio di andare alla deriva sull'iceberg della celiachia

M. Fornaro, R. Gaudino, L. Balanzoni, et al.

2009/2 — pag. 124-125

A 12-year old child with failure-to-thrive had diagnosis of celiac disease at the age of 20 months, in spite of negative serologic markers and only slight histological modifications at the duodenal biopsy. After 10 years of gluten free diet his w...

Il rischio di andare alla deriva sull\'iceberg della celiachia

M. Fornaro, R. Gauno, L. Balanzoni, C. Bortoluzzi, S. Conte, E. Valletta

2009/2

I leucotrieni (parte prima)

G. Bartolozzi

2008/2

Difetti congeniti, prima e dopo la fortificazione della farina di grano con acido folico

G. Bartolozzi

2006/9

...E se il Dotto Arterioso Pervio persiste nonostante la terapia con ibuprofene?

A. Secinaro, E. Antonielli d'Olux, P. Manzoni, D. Farina, M. L. Leonessa, G. Gomirato

2006/7

Crederci sempre, arrendersi mai!

G. Maggiore

2006/6 — pag. 385-386

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...

Eritromicina per bocca e rischio di morte improvvisa

G. Bartolozzi

2004/9

Implicazioni cliniche della ricerca di baseTrasmissione intrafamiliare dell’infezione da Helicobacter pyloriMalattie autoimmuni e chimerismo (materno-fetale)Diagnosi sierologica della malattia infiammatoria cronica intestinaleTerapie anticitochiniche nell’asma: ombre e luciRitardo della diagnosi di sindrome di TurnerPerché nono c’è risposta immunologica al meningococco di gruppo B?Pidocchi e trattamenti anti-pidocchioIl magnesio ad alte dosi per via venosa nella cura dell’asma moderato-grave

2001/1 — pag. 11-12

Gli anticonvulsivanti riducono l'efficacia della chemioterapia nella leucemia

G. Bartolozzi

2000/7

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...

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...