Laura Menchini

Bio: Laura Menchini is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Respiratory failure & Tuberculous meningitis. The author has an hindex of 9, co-authored 15 publications receiving 161 citations.

Wandering spleen in children: a report of 3 cases and a brief literature review underlining the importance of diagnostic imaging.

Abstract: Wandering spleen is a rare condition in children that is often caused by loss or weakening of the splenic ligaments. Its clinical presentation is variable; 64% of children with wandering spleen have splenic torsion as a complication. To provide up-to-date information on the diagnosis, clinical management and diagnostic imaging approaches for wandering spleen in infants and children and to underline the importance of color Doppler US and CT in providing important information for patient management. We report a series of three children with wandering spleen treated at our children’s hospital over the last 6 years. All three underwent clinical evaluation, color Doppler US and CT and were surgically treated. We also reviewed 40 articles that included 55 patients younger than 18 years reported in the Medline database from 2002 to 2012. We correlated pathological data with imaging findings. Color Doppler US, the first imaging modality in investigating abdominal symptoms in children with suspected wandering spleen, yielded a diagnostic sensitivity of 54.9%, whereas CT achieved about 71.7%. Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery.

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.

Abstract: Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome. The disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.

Dynamic expiratory CT: An effective non-invasive diagnostic exam for fragile children with suspected tracheo-bronchomalacia.

Abstract: BACKGROUND Tracheobronchomalacia, defined as variable collapse of the airways, has been recognized as an important cause of respiratory morbidity but still widely underdiagnosed. Bronchoscopy is still considered as the gold standard, but numerous limitations are known, especially for fragile sick children. Moreover, information on parenchymal lung disease cannot be described. There is a real need for a reliable, non-invasive test to help detection of airway and parenchymal malformations in children, specifically when bronchoscopy cannot be performed. METHODS AND RESULTS 34 paediatric patients underwent cine multidector CT for ongoing respiratory symptoms and were included. All CT images were of good quality and sedation was never needed. Airway disease such as trachea-broncomalacia with/without stenosis was described in 53% with the first being more frequent. Bronchomalacia alone was described in 10 patients and in 4 patients was associated with tracheomalacia. Moreover, CT allowed identification of parenchymal disease in 10 patients. Airways stenosis alone was detected in seven patients. The majority of patients (85%) underwent also bronchoscopy for clinical decision. The agreement between CT and bronchoscopy was explored. The two examinations did not agree only in two cases. CT dynamic showed an excellent sensitivity of 100% (81.47-100 %), a great specificity of 82% (48.22-97.72 %), NPV 100%, and PPV 90% (72-96.9 %). CONCLUSION Dynamic CT results an effective and highly sensitive diagnostic exam for children with tracheo-bronchomalacia. CT is especially indicated for those small and fragile patients that cannot undergo an invasive investigation. Moreover, CT allows a detailed evaluation both of the airways and the lungs which is useful for the clinical management.

Magnetic Resonance Enteroclysis imaging of Crohn's.

Abstract: AIM The aim of our prospective study was to evaluate the diagnostic accuracy of MR Enteroclysis (MRE) to assess the extension and complications of Crohn's Disease (CD) in comparison with conventional enteroclysis (CE). MATERIALS AND METHODS The study comprised 30 consecutive patients affected by Crohn's disease (18 women and 12 men; age range 16-76, mean age 40.6 years), who underwent conventional and MR enteroclysis. The MR enteroclysis protocol includes three sequences: coronal and axial FIESTA and ssFSE sequences and T1-3D-FSPGR sequences before and after intravenous injection of gadolinium, acquired after administration of 1.6-2 l of iso-osmolar polyethylene glycol solution via a nasojejunal catheter. Two radiologists blindly scored each sequence for opacification of the lumen, small bowel distension and image quality and evaluated the following parameters: presence of wall ulcers, pseudopolyps, stenoses and fistulae. RESULTS The accuracy of the FIESTA sequence was significantly higher (p<0.01) than the ssFSE and 3D FSPGR sequences in the evaluation of lumen opacification and bowel distension, and for the overall quality of the images (p<0.01). The sensitivity and specificity of MRE were 82% and 100% for the visualisation of parietal ulcers, 87% and 100% for pseudopolyps, 100% and 88% for stenoses, 75% and 100% for parietal fistulae. High-grade stenoses with prestenotic dilation (n=6) and low-grade stenoses (n=9) were visualised both by MRE and CE. MRE also showed abscesses in two patients, not seen at CE. The FIESTA and ssFSE sequences had higher accuracy in the detection of wall ulcers and fistulae, whereas the 3D FSPGR sequences showed higher accuracy in the evaluation of wall thickening. CONCLUSIONS MRE is able to demonstrate the spectrum of superficial, intramural and exoenteric alterations in Crohn's disease and closely correlates with CE in demonstrating alterations of the bowel lumen and wall.

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF‐1/NKX2.1 gene

Abstract: NK2 homeobox-1 (NKX2.1) gene encoding the thyroid transcription factor-1 (TTF-1) plays a critical role in lung, thyroid, and central nervous system morphogenesis and function; mutations cause a rare form of progressive respiratory failure associated with alterations of surfactant synthesis, composition, and homeostasis. Molecular mechanisms are heterogeneous and poorly explored. A 28 days old male, soon after birth, presented respiratory failure requiring oxygen treatment at FiO2 27%, prolonged for 2 weeks. Routine neonatal screenings detected a high thyroid stimulating hormone concentration. On day 27 congenital hypothyroidism was confirmed and substitutive treatment was begun. Since the persistence of respiratory symptoms sweat test, CFTR mutation, lymphocyte subpopulations, and sputum cultures were tested, resulting negative. Brain and cardiac defects were also ruled out. Bronchoscopy and BAL analysis were normal. Computed tomography showed bilateral multiple ground glass attenuation, consolidative areas and diffuse bronchial wall thickening. Based on the severity of symptoms, the exclusion of other causes of respiratory disease and the CT findings of interstitial lung disease, we investigated genes affecting the surfactant homeostasis. Sequencing analysis of the three exons of the TTF1 revealed a heterozygous mutation c.334G > T that results in the replacement of glycine in position 112 with a stop codon, generating a nonsense protein that lacks the correct transactivation domain in the C-terminal region. Genetic analysis of the family showed that the father, who was asymptomatic, carried the mutation. Screening for TTF-1 deletions or mutations should always be considered in children with congenital hypothyroidism and an unexplained neonatal respiratory distress or neurodevelopmental deficits.

Inflammatory Bowel Disease Diagnosed with US, MR, Scintigraphy, and CT: Meta-analysis of Prospective Studies

Abstract: Purpose: To compare, by performing a meta-analysis, the accuracies of ultrasonography (US), magnetic resonance (MR) imaging, scintigraphy, computed tomography (CT), and positron emission tomography (PET) in the diagnosis of inflammatory bowel disease (IBD). Materials and Methods: MEDLINE, EMBASE, CINAHL, and Cochrane databases were searched for studies on the accuracy of US, MR imaging, scintigraphy, CT, and PET, as compared with a predefined reference standard, in the diagnosis of IBD. Sensitivity and specificity estimates were calculated on per-patient and per-bowel-segment bases by using a bivariate random-effects model. Results: Thirty-three studies, from a search that yielded 1406 articles, were included in the final analysis. Mean sensitivity estimates for the diagnosis of IBD on a per-patient basis were high and not significantly different among the imaging modalities (89.7%, 93.0%, 87.8%, and 84.3% for US, MR imaging, scintigraphy, and CT, respectively). Mean per-patient specificity estimates were...

Comparison of MR enteroclysis with MR enterography and conventional enteroclysis in patients with Crohn’s disease

Abstract: To prospectively compare the diagnostic accuracy of MR enteroclysis with duodenal intubation with MRI after drinking oral contrast agent only (MR enterography) with conventional enteroclysis (conv-E) as reference standard in patients with Crohn’s disease. Forty consecutive patients (22 males and 18 females; mean age 36; range 16–74 years) with proven Crohn’s disease underwent conv-E and MR imaging. Twenty-two patients underwent MR enteroclysis with intubation (MRE) and 18 underwent MR-enterography (MR per OS). Two radiologists reached a consensus about the following imaging findings: luminal distension and visualization of superficial mucosal, mural and mesenteric abnormalities. Standard descriptive statistics and a Wilcoxon rank sum test were used. Statistical significance was inferred at P < 0.05. There was no significant difference in the adequacy of luminal distention between the MRE and conv-E (P = 0.08), and both were statistically superior in comparison to MR per OS in the distension of the jejunum (P < 0.01) and less significant at the ileum and terminal ileum levels (P < 0.05). MRE and conv-E were comparable for the accuracy of superficial mucosal abnormalities; meanwhile conv-E compared with MR per OS was statistically superior (P < 0.01). MRE compared with MR per OS was statistically better when visualizing superficial abnormalities (P < 0.01). No statistically significant differences were found in assessing the diagnostic efficacy between MR examinations for the depiction of mural stenosis (P = 0.105) and fistulae (P = 0.67). The number of detected mesenteric findings was significantly higher with both MRE and MR per OS compared to conv-E (P < 0.01). MRE can serve as the diagnostic procedure for initially evaluating patients suspected of having Crohn’s disease. MR per OS may have a role in patients that refuse or have failed intubation and also for follow-up.

Diseases of Pulmonary Surfactant Homeostasis

Abstract: Pulmonary surfactant is required for adaptation to air breathing after birth, reducing surface tension at the air-liquid interface in the alveolus to maintain lung volumes during the respiratory cycle. Disorders of pulmonary surfactant homeostasis are associated with acute and chronic respiratory disease in infants and adults. Mutations in the surfactant protein genes encoding SP-B and SP-C cause severe respiratory failure in infancy and chronic interstitial lung disease in older individuals.

Assessment of Crohn's disease in the small bowel: Prospective comparison of magnetic resonance enteroclysis with conventional enteroclysis.

Abstract: Our objective was to assess the diagnostic value of magnetic resonance enteroclysis (MRE) compared with conventional enteroclysis (CE) in patients with Crohn’s disease. A secondary objective was to evaluate the diagnostic accuracy of each different MR sequence. Sixty-six consecutive patients with known Crohn’s disease underwent MRE and CE. Fast imaging employing steady-state acquisition (FIESTA), single-shot fast spin-echo (ssFSE), and contrast-enhanced T1-weighted sequences were assessed by two radiologists who reached a consensus about the following findings: visualization of wall ulcers, pseudopolyps, fistulae, mural stenosis, and mesenteric abnormalities. Standard descriptive statistics and the McNemar test were used. The sensitivity, specificity and accuracy of MRE were 90–87% and 83% for the depiction of parietal ulcers, 84%–88% and 86% for pseudopolyps, 100–94% and 96% for mural stenosis, 93–100% and 94% for fistulae. The number of detected extraluminal findings was significantly higher with MRE (P<0.01). The accuracy of FIESTA sequence was statistically higher in the depiction of wall ulcers and fistulae than that of three-dimensional fast spoiled gradient echo (3D-FSPGR) (P<0.01) and ssFSE (P<0.05) sequences. Contrast-enhanced 3D-FSPGR was superior for mural stenosis visualization compared to ssFSE (P<0.05) and FIESTA (P<0.05). MRE correlates accurately with CE in the detection of superficial and transmural abnormalities and has the advantage of assessing the mesenteric manifestations.

CT and MR enterography in evaluating small bowel diseases: when to use which modality?

Abstract: MR and CT techniques optimized for small bowel imaging are playing an increasing role in the evaluation of small bowel disorders. Several studies have shown the advantages of these techniques over traditional barium fluoroscopic examinations due to improvements in spatial and temporal resolution combined with improved bowel distending agents. The preference of MR vs. CT has been geographical and based on expertise and public policy. With the increasing awareness of radiation exposure, there has been a more global interest in implementing techniques that either reduce or eliminate radiation exposure. This is especially important in patients with chronic diseases such as inflammatory bowel disease who may require multiple studies over a lifetime or in studies that require sequential imaging time points such as in assessment of gastrointestinal motility. MRI has many properties that make it well suited to imaging of the small bowel: the lack of ionizing radiation, the improved tissue contrast that can be obtained by using a variety of pulse sequences, and the ability to perform real time functional imaging. Moreover, MR modalities allow visualization of the entire bowel, without overlapping bowel loops, as well as the detection of both intra- and extraluminal abnormalities.The intra- and extraluminal MR findings, combined with contrast enhancement and functional information, help to make an accurate diagnosis and consequently characterize small bowel diseases.