Ultrasound detection of pneumonia in febrile children with respiratory distress: a prospective study.

To analyse the usefulness of bedside lung ultrasound (LUS) in detecting lung consolidation in a paediatric emergency room (ER) setting, febrile children seen at our ER from 2008 to 2012 with a moderate to severe respiratory distress underwent LUS, chest X-ray (CXR) and laboratory investigations. At first ER assessment, LUS identified a lung consolidation in 207 patients of 222 children enrolled, with a liver-like appearance in 75 (36.2%) and an associated pleural effusion in 36.7% of cases. CXR proved positive in 197 cases, showing a parenchymal consolidation (68.5%) or a focal ground-glass opacity (31.4%). LUS liver-like consolidation was significantly associated with longer duration of fever (p = 0.002), higher neutrophil counts and C-reactive protein (CRP) values (p = 0.015 and p < 0.0001, respectively), and with the discovery of a homogeneous and dense parenchymal consolidation on CXR (p < 0.0001). CONCLUSION: LUS can be adopted by the clinician as a non-invasive bedside tool to expand the physical evaluation of febrile children with respiratory distress. In our study, LUS results appeared not only as reliable as CXR in detecting lung consolidations but also consistent with clinical and laboratory data. WHAT IS KNOWN: The diagnosis of pneumonia is mainly based on physical examination plus radiologic and laboratory evaluation when needed. Although lung ultrasound (LUS) has shown high sensitivity in detecting several pleuropulmonary diseases in adults, its role in the work-up of pneumonia in children is not yet widely recognized. WHAT IS NEW: LUS is confirmed to be a reliable imaging technique for the diagnostic work-up of febrile children with respiratory distress, consistent not only with CXR results as previously reported by others but also with clinical and laboratory data. In the hands of trained clinicians, it may represent a valuable supplemental bedside tool for a rapid evaluation in such circumstances.

Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

UNLABELLED: Glycogenosis type II, a genetic muscle-wasting disorder, results in a spectrum of clinical phenotypes. Enzyme replacement therapy is effective in the infantile form of the disease, while little is known about its effectiveness in late-onset disease, especially in juvenile patients. The purpose of this retrospective cohort study was to assess the long-term effects of enzyme replacement therapy (ERT) in juvenile glycogenosis type II (GSDII). Eight Italian juvenile GSDII patients, receiving biweekly infusions of 20 mg/kg recombinant human α-glucosidase for at least 72 months, were enrolled (median age at therapy start was 11.8 years). Six-minute walk test (6MWT) and forced vital capacity (FVC), measured in upright position, were chosen as the principal outcome measures. Global motor disability (modified Walton scale (WS)), muscle enzymes levels [creatine phosphokinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST), alanine transaminase (ALT)] and body mass index (BMI) were also analysed both at baseline (therapy start) and annually afterwards. At baseline, most patients (six out of eight) did not show muscle function impairment (WS ≤ 2). The performance at 6MWT showed a slight improvement during follow-up as well as FVC. Muscle enzymes levels showed a clear decrease after the 1st year of treatment while remained stable afterwards. An overall decrease in BMI was also observed during follow-up, although at the individual level, trends were variable. CONCLUSION: ERT is effective in stabilising both motor and lung functions in juvenile patients with GSDII, possibly slowing down the rate of disease progression. Randomised controlled trials are needed to understand whether early treatment allows juvenile patients to reach adulthood with a more beneficial residual muscular function than untreated patients.