Caiulo V.A.,Perrino Hospital
La Pediatria medica e chirurgica : Medical and surgical pediatrics | Year: 2011
The use of ultrasound for the evaluation of the lung is relatively recent. We describe the case of a newborn with pulmonary atelectasis and shift of the mediastinum underlining both advantages and limits of lung ultrasound (LUS). The baby, 1 month of age, was admitted to our hospital for tachypnoea, vomiting and poor weight gain. Chest X-ray (CXR) showed displacement of the heart to the right, suggesting the presence of atelectasis of the right lung. LUS confirmed the displacement of the mediastinum to the right and atelectasis of the right lung, clearly visible as a consolidation with the presence of air bronchograms. The computed tomography image showed that the lung parenchyma displayed in the right hemithorax could be attributed to the hyperexpanded left lung. However, once this information was acquired, and compared to the ultrasound picture, we were able to monitor the patient by LUS until normalization, thus avoiding further exposure to ionizing radiation. Our case, in accordance with the recent Literature, indicates that LUS can be adopted as a simple and non-invasive method for evaluating children with lung disease. It is easy to perform at bedside, allows a close follow-up and avoids the use of ionizing radiation.
Muzza M.,University of Milan |
Rabbiosi S.,Vita-Salute San Raffaele University |
Vigone M.C.,Vita-Salute San Raffaele University |
Zamproni I.,Vita-Salute San Raffaele University |
And 11 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2014
Context: Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect. Objective: This study aimed to verify the prevalence of DUOX2 mutationsandthe associated clinical features in children selected by criteria supporting a partial iodide organification defect (PIOD). Patients and Methods: Thirty children with PIOD-like criteria were enrolled and genotyped. A detailed clinical characterization was undertaken together with the functional analysis of the DUOX2 variations and the revision of the clinical and molecular data of the literature. Results: In this large selected series, the prevalence of the DUOX2 mutations was high (37%). We identified 12 missense variants, one splice site, and three frameshift DUOX2 mutations. Functional analyses showed significant impairment of H2O2 generation with five missense variants. Stopcodon mutants were shown to totally abolish DUOX2 activity by nonsense-mediated RNA decay, exon skipping, or protein truncation. DUOX2 mutations, either mono- or biallelic, were most frequently associated with permanent congenital hypothyroidism. Moreover, the present data suggested that, together with goiter and PIOD, the most significant features to select patients for the DUOX2 analysis are the low free T4 and the high TSH concentrations at the first postnatal serum sampling, despite borderline blood spot TSH. Interestingly, the analysis of previously described DUOX2 mutated cases confirmed the validity of these findings. Conclusions: The defects in the peroxide generation system are common among congenital hypothyroidism patients with PIOD. The most robust clinical parameters for selecting patients for DUOX2 analysis have been identified, and several DUOX2 variants have been functionally characterized. Copyright © 2014 by the Endocrine Society.
Derchi G.,Ematologia Centro della Microcitemia e delle Anemie Congenite |
Galanello R.,University of Cagliari |
Bina P.,University of Cagliari |
Cappellini M.D.,University of Milan |
And 8 more authors.
Circulation | Year: 2014
Background-Pulmonary arterial hypertension (PAH) remains a concern in patients with β-thalassemia major (TM) and intermedia (TI); however, studies evaluating its prevalence and risk factors using systematic confirmation on right heart catheterization are lacking. Methods and Results-This was a multicenter cross-sectional study of 1309 Italian β-thalassemia patients (mean age 36.4±9.3 years; 46% men; 74.6% TM, 25.4% TI). Patients with a tricuspid-valve regurgitant jet velocity ≥3.2 m/s (3.6%) on transthoracic echocardiography further underwent right heart catheterization to confirm the diagnosis of PAH (mean pulmonary arterial pressure ≥25 mm Hg and pulmonary capillary wedge pressure ≤15mm Hg). The confirmed PAH prevalence on right heart catheterization was 2.1% (95% confidence interval [CI], 1.4-3.0) and was higher in TI (4.8%; 95% CI, 3.0-7.7) than TM (1.1%; 95% CI, 0.6-2.0). The positive predictive value for the tricuspid-valve regurgitant jet velocity ≥3.2 m/s threshold for the diagnosis of pulmonary hypertension was 93.9%. Considerable functional limitation and decrease in the 6-minute walk distance were noted in patients with confirmed PAH. On multivariate logistic regression analysis, independent risk factors for confirmed PAH were age (odds ratio, 1.102 per 1-year increase; 95% CI, 1.06-1.15) and splenectomy (odds ratio, 9.31; 95% CI, 2.57-33.7). Conclusions-The prevalence of PAH in β-thalassemia patients as confirmed on right heart catheterization was 2.1%, with an ≈5-fold higher prevalence in TI than TM. Advanced age and splenectomy are risk factors for PAH in this patient population. © 2013 American Heart Association, Inc.
Caiulo V.A.,Neonatal Nephrology Study Group |
Caiulo S.,University of Milan |
Gargasole C.,University of Milan |
Chiriaco G.,University of Trieste |
And 5 more authors.
Pediatric Nephrology | Year: 2012
Background There is a high incidence of congenital anomalies of the kidneys and urinary tract (CAKUT). Early diagnosis of these defects may allow the best medical and/or surgical treatment to be implemented as rapidly as possible, preventing or at least slowing down an evolution toward chronic kidney disease. Methods Ultrasound mass screening for kidney and urinary tract abnormalities in infants at 2 months of age was carried out in Salento, Italy. The centers involved in the study examined a total of 17,783 infants between January 1992 and December 2010. Results A total of 171 CAKUT were identified in the course of the mass screening. The frequency of CAKUT was 0.96%. Vesicoureteral reflux (n=39) was the most frequent renal abnormality found, followed by ureteropelvic junction obstruction (n=33), ectopic kidney (n=26), and renal dysplasia (n=19). In addition, nephrogenic rests (n=2), as well as several extra-renal pathologies, including abdominal neuroblastoma (n=3), were diagnosed incidentally. Conclusion Ultrasound has been effective for early detection of renal and urinary tract anomalies. In addition, this screening has proved to be very useful for the early identification and management of both renal and extra-renal precancerous as well as cancerous lesions. However, most patients requiring surgery in this study (0.24%) would probably have been symptomatic and come to medical attention without routine screening. On the basis of our results screening is not justified. © IPNA 2012.
Caiulo V.A.,Perrino Hospital |
Gargani L.,National Research Council Italy |
Caiulo S.,University of Milan |
Fisicaro A.,University of Milan |
And 4 more authors.
Pediatric Pulmonology | Year: 2013
Background The diagnosis of community-acquired pneumonia (CAP) is based mainly on the patient's medical history and physical examination. However, in severe cases a further evaluation including chest X-ray (CXR) may be necessary. At present, lung ultrasound (LUS) is not included in the diagnostic work-up of pneumonia. Aim To describe the ultrasonographic appearance of CAP at presentation and during the follow-up. Methods A total of 102 patients with clinical signs and symptoms suggesting pneumonia, who underwent a clinically driven CXR, were evaluated by LUS on the same day. LUS signs of pneumonia included subpleural lung consolidation, B-lines, pleural line abnormalities, and pleural effusion. The diagnostic gold standard was the ex-post diagnosis of pneumonia made by two independent experienced pediatricians on the basis of clinical presentation, CXR and clinical course following British Thoracic Guidelines recommendations. Results A final diagnosis of pneumonia was confirmed in 89/102 patients. LUS was positive for the diagnosis of pneumonia in 88/89 patients, whereas CXR was positive in 81/89. Only one patient with normal LUS examination had an abnormal CXR, whereas 8 patients with normal CXR had an abnormal LUS. LUS was able to detect pleural effusion resulting from complicated pneumonia in 16 cases, whereas CXR detected pleural effusion in 3 cases. Conclusions LUS is a simple and reliable imaging tool, not inferior to CXR in identifying pleuro-pulmonary alterations in children with suspected pneumonia. During the course of the disease, LUS allows a radiation-free follow-up of these abnormalities. Pediatr Pulmonol. 2013; 48:280-287. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.