7 Result(s)
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Article
Open AccessPediatric torticollis: clinical report and predictors of urgency of 1409 cases
To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign a...
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Article
Open AccessCentral nervous system tumours in neonates: what should the neonatologist know?
Central nervous system (CNS) tumours in neonates are relatively rare and present differently when compared with those occurring later in childhood in terms of aetiology, clinical features, location, histology ...
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Article
Open AccessLong-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report
Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it is characterized by the formation of pseudomembranes (due to deposition of f...
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Article
Half-dose versus full-dose macrocyclic gadolinium at 3-T magnetic resonance imaging in paediatric bone and soft-tissue disease
Given the recent concerns about gadolinium-based contrast agent safety, dose reduction strategies are being investigated.
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Article
Fungal infections of the lung in children
Fungal infections of the lungs are relatively common and potentially life-threatening conditions in immunocompromised children. The role of imaging in children with lung mycosis is to delineate the extension o...
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Article
Open AccessMultiple cerebral sinus thromboses complicating meningococcal meningitis: a pediatric case report
Cerebral venous sinus thrombosis (CVT) is a rare and potentially life-threatening condition in the pediatric population. The clinical presentation is frequently nonspecific; thus diagnosis is often delayed or ...
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Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Δ1-Pyrroline-5-carboxylate synthetase (P5CS) catalyzes the first two steps of ornithine/proline biosynthesis. P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity....
