Amino Acids, Sulfur

Rabdomiolisi massiva da influenza B: quando i dolori muscolari non sono una "banale influenza"

Operti M, Laccisaglia A, Feyles F, Vassia C, Peruzzi L, Conio A, Versace A

2025/1 — pag. 16-17 — DOI

A 10-year-old girl with severe rhabdomyolysis linked to type B influenza showed rapid improvement without dialysis after being treated with hydration, albumin, diuretics, N-acetylcysteine and oseltamivir. This severe case highlights the potential myo...

Rivista sfogliabile on line

2024/7

La B12 c'è ma non funziona

Vitale R.

2024/7 — pag. 468-470 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Omocisteina alta? Quello che il pediatra deve sapere

Cantarelli E, Biasucci G, Bortolamedi E, Ortolano R, Candela E, Baronio F, Lanari M.

2024/7 — pag. 435-442 — DOI

Hyperhomocysteinemia may cause concern to the paediatrician due to its correlation with increased cardiovascular risk. In paediatric age, the most common cause is a nutritional vitamin deficiency, particularly vitamin B12 or folate, which can be foun...

Quando e perché pensare all'omocisteina

Ramenghi U

2024/7 — pag. 415-416 — DOI

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...

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...

Un lattante che fa i calcoli

V. Dolcemascolo, E. Miorin, E. Vidal, P. Cogo

2018/1 — pag. 55-56

The paper presents the case of a four-month-old infant with a history of crying spells, vomit and renal stones on ultrasounds. Urinary excretion of dibasic amino acids and genetic study confirm a digenic cystinuria. The presented case shows that clin...

Partendo da MTHFR per arrivare all’omocisteina

2015/4 — pag. 252-254

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...

Sicurezza ed efficacia dei mucolitici in età pediatrica

L. Tartaglia, F. Trotta e i componenti del Working Group Pediatrico dell’AIFA

2011/2 — pag. 110-113

Following a signal from France, which showed an increase in the cases of bronchial obstruction and worsening respiratory disorders in children under 2 years of age treated with mucolytics, the Italian Drug Agency (AIFA) has revised the risk/benefit...

Mucolitici controindicati nei bambini al di sotto dei 2 anni: la nota dell’AIFA

2011/1 — pag. 15

La prescrizione dei mucolitici: tra provvedimentirestrittivi e ricerca delle evidenze

F. Marchetti

2011/1 — pag. 7-10

L\'utilizzo episodico della budesonide e del montelukast nei bambini dell\'età prescolare con wheezing intermittente non è in grado di aumentare la proporzione dei giorni liberi da sintomi

D. Radzik

2009/2

I leucotrieni (parte seconda)

G. Bartolozzi

2008/3

La storia vera, ma troppo lunga, di un lattante con ittero

V. Rametta, L. Zancan

2006/6 — pag. 385-386

Il montelukast offre benefici clinici modesti nel wheezing ricorrente del bambino in età prescolare.

D. Radzik

2006/1

Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

2005/1 — pag. 58-58

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He devel...