Claudio Defilippi

Impact of Psychological Interventions on Reducing Anxiety, Fear and the Need for Sedation in Children Undergoing Magnetic Resonance Imaging

Children undergoing magnetic resonance imaging examination frequently experience anxiety and fear before and during the scanning. The aim of the present study was to assess: i) whether and to what extent psychological interventions might reduce anxiety and fear levels; ii) whether the intervention is related to a decrease in the need for sedation. The interventions consisted of three activities: a clown show, dog interaction and live music. The emotional status (anxiety and fear) of the children was evaluated before and after the activities through a rating scale questionnaire. The results showed that the activities had high effectiveness in reducing the level of anxiety and fear and decreased the need for sedation in the experimental group compared to the control group. This approach proved to be a positive patient experience, helping to alleviate children’s anxiety and fear, decreasing the need for sedation, and was cost-effective.

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients

To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD‐OCT).

Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol.

A newborn with unresectable kaposiform hemangioendothelioma associated with Kasabach Merritt phenomenon, unresponsive to vincristine and prednisone, received second‐line treatment with propranolol at a dose of 2 mg/kg/day, starting at 2 months of life and continued for 13 months. There was only slight reduction in tumor mass, but measurement of propranolol levels showed extremely low plasma concentrations. The propranolol dose was progressively increased to 3.5 mg/kg/day, leading to a substantial increase in plasma levels associated with clinically relevant tumor reduction. This case highlights the importance of relating propranolol dose to its plasma concentration before considering the treatment ineffective for this vascular tumor.

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene

Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder. Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. The exact incidence of this disorder is not known, however less than a hundred cases have been reported at present, with only two prenatal reports but without any reference to the molecular test. We describe the first report of molecular diagnosis of metatropic dysplasia carried out in prenatal diagnosis: the molecular testing of the TRPV4 (transient receptor potential cation channel, subfamily V, member 4, MIM *605427) gene in our case, in fact, detected a causative variant, confirming the diagnostic suspicion, which was made possible thanks also to the utilization of MRI and CT scan. In our case different imaging methods together with the close cooperation of a multidisciplinary team and test availability, allowed an accurate diagnosis.

Hydronephrosis and Pyonephrosis

Urinary tract infections (UTIs) are a frequent clinical problem in infants and children, and they may develop into serious complications with long-term sequelae. Their prevalence varies according to age and sex: males are more interested in the neonatal period and in the first year of age, while females are more involved after that time. The clinical outcome and the severity of UTIs depend on many risk factors including urinary tract malformations and dysfunctions, virulence and properties of the pathogen, host response to the infection, and promptness of diagnosis and management.

Lesioni ossee non accidentali

Nell’infanzia le lesioni ossee conseguenti ad eventi non accidentali (non accidental injury, NAI) possono dipendere, come nel Soggetto adulto, da azioni repentine che producono un effetto fisico acuto per il quale si rende necessario un intervento urgente oppure derivare da una condotta ripetuta, tale da produrre danno e sofferenza fisica prolungati.

Lesioni ossee traumatiche specifiche

Le numerose particolarita che differenziano l’osso infantile da quello del soggetto adulto determinano l’esistenza di una ricca gamma di lesioni traumatiche tipiche, cosi diverse e variabili, soprattutto in rapporto all’eta, da sfuggire ad una classificazione onnicomprensiva riconosciuta universalmente.

Fratture delle ossa lunghe degli arti nel bambino

La particolare tipologia di alcune lesioni come le green stick e le buckle fracture, peculiarita anatomiche specifiche come la placca di accrescimento e la differente evolutivita e prognosi delle fratture in Soggetti in eta di sviluppo determina oggettive difficolta che impediscono l’applicazione anche in ambito pediatrico della Classificazione AO unanimemente utilizzata per le fratture delle ossa lunghe dell’individuo adulto.

Inquadramento clinico-radiologico delle fratture pediatriche

I traumi dell’apparato muscolo-scheletrico rappresentano fino al 20% delle cause di accesso in Pronto Soccorso per quanto concerne la popolazione in eta pediatrica

Fratture del gomito

Circa il 65% –75% delle fratture pediatriche interessa l’arto superiore, principalmente a causa della frequenza con cui i bambini tendono a cadere sulla mano tesa.