Irene Maria Olivia Borzani - Academia.edu (original) (raw)

Papers by Irene Maria Olivia Borzani

European Journal of Pediatric Surgery Reports, Jun 7, 2023

Congenital pulmonary airway malformation (CPAM) is a rare congenital lung lesion, that usually re... more Congenital pulmonary airway malformation (CPAM) is a rare congenital lung lesion, that usually remains asymptomatic during the fetal and neonatal period. However, it can occasionally cause prenatal cardiocirculatory failure and fetal hydrops, requiring a thoraco-amniotic shunt (TAS) placement. In other cases, it can also cause symptoms at birth (such as respiratory distress), and may require urgent surgical intervention. Thoracoscopic lobectomy for neonates is rarely reported. Here, we report a case of right macrocystic CPAM causing fetal hydrops at 27 weeks of gestation. The fetus was treated with a TAS placement that successfully resolved the hydrops. At 39 weeks of gestation a male neonate was born (weight 2850g). The TAS spontaneously displaced during delivery, causing an open pneumothorax (PNX), initially treated with a drainage. His condition gradually worsened, requiring ventilatory support. TC scan showed different giant cysts in the context of the right lower lobe, left mediastinal shift and compression of the rest of the lung. An urgent surgical management was required. A thoracoscopic right lower lobectomy was performed at 10 days of life (weight 2840g). The postoperative course was uneventful, the child remained totally asymptomatic and showed a good recovery. To the best of our knowledge this is the first reported case of open iatrogenic PNX following TAS positioning and the second of neonatal thoracoscopic lobectomy in a newborn weighting less than 3kg. The purpose of this report is to indicate that minimally invasive surgery is feasible, safe and effective for the resection of congenital pulmonary airway malformation, even in small newborns

Italian Journal of Pediatrics, Jul 17, 2021

Background: Panton-Valentine leukocidin (PVL) is one of the major virulence factor of Staphylococ... more Background: Panton-Valentine leukocidin (PVL) is one of the major virulence factor of Staphylococcus aureus (SA) that might be associated with invasive life-threating infections. A prompt diagnosis and adequate treatment are essential in achieving the best outcome and avoiding serious sequelae. We describe a case of severe invasive PVL-SA infection in an infant. A literature review starting from 2010 was also performed in order to discuss clinical presentations, radiological findings, treatment and outcome. Case presentation: This is a case of a 6-month-old boy who rapidly developed high fever and poor general condition. He was diagnosed as having multiple muscular abscesses, multiple foci of osteomyelitis and bloodstream infections caused by Panton-Valentine leukocidin Methicillin-resistant Staphylococcus aureus. He received intravenous antibiotics and surgical drainage of the abscess with progressive recovery. Conclusion: Our report highlights the importance of improving awareness of this severe infection, as a prompt diagnosis and adequate manage is essential in order to save life and to prevent serious complications.

Prenatal Diagnosis, May 18, 2022

ObjectivesTo reach a molecular diagnosis for a family with two consecutive fetuses presenting wit... more ObjectivesTo reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.MethodsThe two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array‐CGH for both fetuses and trio‐based whole exome sequencing (WES) only for the second fetus.ResultsWES results, initially focusing on recessive or dominant de novo variants, were negative.However, as a result of new relevant information regarding family history, the variant c.648_651dup in the PTCH1 gene was identified as causative of the fetal phenotype.ConclusionsThis case further highlights how WES data analysis and interpretation strongly rely on family history and robust genotype–phenotype correlation. This is even more relevant in the prenatal setting, where access to fetal phenotype is limited and prenatal recognition of many morbid genes is not fully explored. We also provide a detailed description of the prenatal manifestations of Basal Cell Nevus Syndrome.

European Journal of Clinical Orthodontics, Oct 1, 2014

The aim of this study is to show the importance and reliability of ultrasonography (US) in the di... more The aim of this study is to show the importance and reliability of ultrasonography (US) in the diagnosis of the temporomandibular disorders (TMJ) in patients affected by orofacial pain and dysfunction with dentofacial and skeletal malocclusions. Materials and methods 30 patients have been assessed by ultrasonographic exams. Us was performed with a 11-18 MHz linear transducer. US offers specific advantages because it is non-invasive, does not require sedation or general anesthesia (which facilitates examinations for follow-up), is quickly accessible bedside, and is easy to combine with clinical assessment (interactivity). Agitation of the patient is rarely a problem, as MRI and multiple locations can be assessed during a single session. Furthermore, modern high-frequency US transducers used by experienced US examiners can provide unsurpassed resolution of the superficial musculoskeletal structures. Results Were detected morphological alterations and positions of mandibular condyles in the glenoid fossa, condylar synovitis, disc displacement and joint effusion. Conclusions Ultrasonography is a noninvasive and inexpensive diagnostic procedure that can be suggested for the evaluation of TMJ disorders, with particular accuracy in the detection of disc displacement and joint effusion. Limitations are especially related to the scarce accessibility of the medial part of the TMJ structures, and the need for trained and calibrated operators.

Genetics in Medicine, Nov 1, 2018

Aim: The purpose of this study was to show our experience in using ultrasonography for the detect... more Aim: The purpose of this study was to show our experience in using ultrasonography for the detection of temporomandibular joint (TMJ) changes in children with Juvenile Idiopathic Arthritis (JIA). Methods: Between June 2013 and December 2014 we investigated prospectively 70 patients (55 female and 15 male; mean age 9.11 years, range 2-18 years) with diagnosis of JIA. Examinations were performed with 11-18\u2009MHz array transducers according on pts size. Each joint was analyzed with regard to condylar irregularity, capsular thickness (effusion/synovial thickness), condylar disk dislocation, vascular increasing on Color-Doppler examination and symmetry in condylar translation between open- and closed-mouth position. Results: 24 out of 70 patients (34%) had normal US appearance on both side. Irregularities of the bony surface were found in 67 joints (90%) whereas capsular thickness in 49 ones (30%). Vascular signal was increased in 5 joints and always associated with other abnormalities, the same as disk dislocation (3 joints). Translational asymmetry between open and closed mouth position was found in 11 joints and could not be evaluated just 3 patients , the youngest ones (2 - 3 years). Conclusions: Ultrasonography could be an helpful screening method for the detection of TMJ involvement in children with JIA. It can be used and well tolerated even in very young children (2 years) without sedation or radiation risk. US identifies the patients that need further investigations and it can be used for monitoring the progression of TMJ involvement and its response to therapy even if not all parts of the TMJ are visible for ultrasonography. High-resolution ultrasonography is a valuable tool through in particular situations: (i) when MRI examination is not available; (ii) when children are afraid of MRI examination; (iii) in more advanced stages of JIA

Journal of Pediatric Surgery, Nov 1, 2016

To assess the anatomical results after posterior sagittal anorectoplasty (PSARP) by magnetic reso... more To assess the anatomical results after posterior sagittal anorectoplasty (PSARP) by magnetic resonance imaging (MRI) and to evaluate the correlation of these findings with clinical outcomes. Patients followed-up at our center after PSARP, being at least 6year old, with neither evidence of sacral abnormalities nor spinal dysraphisms were prospectively included. Complex ARMs were excluded. MRI was performed on a 1.5T unit. T1- and T2-weighted sequences were acquired, in orthogonal planes, according to the anal canal orientation. The degree of anorectal centering in the muscle complex (DARC), the pelvic floor symmetry, the rectal maximum diameter, the fat tissue interposition, and the presence of fibrosis were evaluated. A clinical questionnaire (Rintala score) was filled in by the parents. MRI findings were compared to the clinical outcomes assessed by the Rintala score. For statistical analysis the Spearman rho correlation coefficient was calculated and the Wilcoxon rank-sum test was performed. We recruited 11 patients (mean age 12years, range 6-19) with MRI. DARC (range 252-360°) was strongly correlated with the degree of fecal incontinence (rho=0.70), mildly with the ability to hold back defecation (rho=0.58), constipation (rho=0.46) and total Rintala score (rho=0.41). Pelvic floor symmetry correlated with the frequency of defecation (rho=0.58). Rectal maximum diameter negatively correlated with the ability to feel the urge to defecate (rho=-0.60). Patients with fibrosis were slightly more constipated (p=0.056) and presented more social impairment (p=0.04). Fat tissue interposition had no correlation with the clinical outcome. Thanks to soft tissue definition, multiplanar imaging, and lack of ionizing radiation, MRI is a valuable tool in the postoperative anatomical evaluation of patients with ARM. Our preliminary results show that abnormal anatomical findings can correlate to a nonoptimal functional outcome, thus helping in understanding the clinical course. The degree of anorectal centering in the muscle complex (DARC) seems to have the better correlation with the outcome, especially in terms of fecal continence. Prognosis study. level IV.

Pediatric Pulmonology, Sep 6, 2022

The European respiratory journal, Feb 28, 2019

This cross-sectional study aims to verify the relationship between quantitative multivolume proto... more This cross-sectional study aims to verify the relationship between quantitative multivolume proton-magnetic resonance imaging (1 H-MRI) and clinical indicators of ventilatory abnormalities in cystic fibrosis (CF) lung disease. Non-enhanced chest MRI, spirometry and multiple breath washout was performed by 28 patients (10-27 years) with CF lung disease. Images acquired at end-inspiration and end-expiration were registered by optical flow to estimate expiratory-inspiratory proton-density change (Δ 1 H-MRI) as a measure of regional ventilation. Magnetic resonance images were also evaluated using a CF-specific scoring system. Biomarkers of CF ventilation impairment were defined from the Δ 1 H-MRI as follows: Δ 1 H-MRI median, Δ 1 H-MRI quartile coefficient of variation (QCV) and percentage of low-ventilation volume (%LVV). Imaging biomarkers correlated to all the clinical measures of ventilation abnormality, with the strongest correlation between Δ 1 H-MRI median and forced expiratory volume in 1 s (r 2 =0.44, p<0.001), Δ 1 H-MRI QCV and lung clearance index (LCI) (r 2 =0.51, p<0.001) and %LVV and LCI (r 2 =0.66, p<0.001). Correlations were also found between imaging biomarkers of ventilation and morphological scoring. The study showed a significant correlation between quantitative multivolume MRI and clinical indicators of CF lung disease. MRI, as a non-ionising imaging technique, may be particularly attractive in CF care for longitudinal evaluation, providing a new imaging biomarker to detect early ventilatory abnormalities.

Revue Neurologique, Oct 1, 2022

Academic Radiology, Oct 1, 2021

Rationale and Objectives: Acute and chronic graft rejection remains the major problem in clinical... more Rationale and Objectives: Acute and chronic graft rejection remains the major problem in clinical surveillance of lung-transplanted patients and early detection of complications is of capital importance to allow the optimal therapeutic option. The aim of this study was to investigate the role of quantitative non contrast-enhanced magnetic resonance imaging (MRI) as a non-ionizing imaging modality to assess ventilation impairment in patients who have undergone lung transplantation, in comparison with quantitative computed tomography (CT) and spirometry. Materials and Methods: Ten lung-transplanted patients (39 §12 years, forced-expiratory volume in 1 second (FEV1) = 81 § 27%, forced vital capacity (FVC) = 87 § 27%) were acquired in breath-hold at full-expiration and full-inspiration with 1.5T MRI and CT. Maps of expiratory-inspiratory difference in MR signal-intensity and CT-density were computed to estimate regional ventilation. Based on expiratory, inspiratory, and expiratory-inspiratory difference values, each pixel was classified as healthy (H), low ventilation (LV), air trapping (AT), and consolidation (C) and the percent extent of each class was quantified. Results: Overall, expiratory-inspiratory difference in MR signal-intensity correlated to CT-density (r = 0.64, p < 0.0001) and to FEV1 (r = 0.71, p = 0.02). The linear correlation between MRI and CT functional maps considering all the four classes is r = 0.93 (p < 0.0001). MRI percent volumes of H, AT, and C correlated to FEV1 %pred, with the highest correlation reported for AT (r =-0.82). Conclusion: Results demonstrated a good agreement between MRI and CT ventilation imaging and between the corresponding percent volumes of lung damage. Quantitative MRI may represent an accurate non-ionizing imaging technique for longitudinal monitoring of lung transplant recipients.

Medicine, Dec 1, 2017

Rationale: Lymphatic malformations (LMs) are rare and benign anomalies resulting from the defecti... more Rationale: Lymphatic malformations (LMs) are rare and benign anomalies resulting from the defective embryological development of the primordial lymphatic structures. Due to their permeative growth throughout all tissue layers, treatment is often challenging. Small asymptomatic lesions can be conservatively managed, while symptomatic lesions require active management. Surgery has been historically considered the treatment of choice, but today less invasive therapeutic options are preferred (sclerotherapy, laser therapy, oral medications). However, there are not uniform therapeutic protocols. Sirolimus is an oral medication that has been reported to be effective in the recent literature. Here we present the case of 4 newborns with giant multicystic lymphangioma treated with oral sirolimus after surgical resection had failed. Patient concerns: At birth the LMs were clinically appreciated as giant masses involving different organs and structures. Diagnoses: All patients had a prenatal diagnosis of giant multicystic lymphangioma confirmed at histological and cytological analysis. Interventions: Patients were treated with oral sirolimus after unsuccessful surgical resection. Outcomes: In all patients, sirolimus determined an overall reduction of the mass and a global involution from the macro-to the microcystic composition. Sirolimus was safe and poor disadvantages had been observed. The main and isolated adverse effect at laboratory analysis was progressive dyslipidemia, with increasing levels of total cholesterol and triglycerides. Lessons: To date, our experience with sirolimus in the management of LMs is favorable. We recommend the use of sirolimus after unsuccessful surgical excision have been tried or when the surgical approach is not feasible. A multidisciplinary follow-up is needed to monitor disease evolution. Abbreviations: DOL = day of life, EXIT = ex utero intrapartum treatment, LMs = lymphatic malformations, MRI = magnetic resonance imaging.

Journal of Cystic Fibrosis, Jun 1, 2015

Objectives To report the usefulness of lung MR in the diagnosis and follow-up of endobronchial in... more Objectives To report the usefulness of lung MR in the diagnosis and follow-up of endobronchial invasive aspergillosis in 3 young pts. Methods We reviewed 79 lung MR examinations performed between January and December 2014 in 64 CF pts (age range 6–30 yrs). Results 3 out of 64 pts (2 girls and 1 boy, age range 11–12 yrs) demonstrated endobronchial mucous plugs with hyperintense T1 signal and hypointense T2 signal associated with parenchymal consolidation distal to the occluded bronchi. Two pts had right inferior lobe alterations and in the other both upper lobes were involved. These alterations suggested extensive mycotic endobronchial invasion. All pts had mild lung disease, hematological changes suggestive for Aspergillosis and positivity of antibodies vs A. fumigatus which was present in sputum in two of them. They did not show specific pulmonary symptoms with a mismatch between lung involvement on MR images and clinical evidence. 2 pts underwent lung CT in the same period that confirmed hyperdense endobronchial mucous and antimycotic therapy was started. BAL during bronchoscopy (flexible bronchoscope with direct DNase instillation) revealed presence of A. fumigatus only in one pt sensible at all antimycotic agents (amphotericin and azoles MIC-EUCAST) and lung MR was the method chosen to follow pulmonary disease. Conclusion Lung MRI performed to monitor pulmonary disease was the first examination suggesting mycotic bronchial colonization and can be considered a safe and accurate method for the detection of endobronchial aspergillosis and for its short and long-term follow-up.

Journal of Hypertension, Aug 18, 2022

Dietary and circulating fatty acids (FA) and desaturases activity, involved in FA metabolism, are... more Dietary and circulating fatty acids (FA) and desaturases activity, involved in FA metabolism, are associated with metabolic and cardiovascular disorders. In particular, a lower delta-5 desaturase activity (D5D) in contrast to a higher delta-6 desaturase (D6D) and stearoyl-CoA desaturase (SCD-16; the enzyme that metabolizes palmitic (PA) to palmitoleic acid (PtA)) activities were related to obesity and metabolic disorders. Design and method: FA profile was determined on whole blood drop in 244 children (50.2 % females; mean age 8.6 ± 0.72 years) participating in a schoolbased cross-sectional study. The possible associations between individual FA and desaturases activity (evaluated as product:precursor ratios) with indices of adiposity and blood pressure (BP) was investigated.

Regional intensity variations between 1H-MRI scans acquired at different lung volumes (Δ1H-MRI) c... more Regional intensity variations between 1H-MRI scans acquired at different lung volumes (Δ1H-MRI) can estimate regional ventilation (Pennati, Radiology2014). The study aims to evaluate if Δ1H-MRI correlates with FEV1 %pred and LCI in patients with CF lung disease. 28 patients with CF lung disease (10-27 years, FEV1=78.3±24.4 %pred, LCI=14.9±3.7) performed chest MRI, spirometry and multiple breath washout. Images acquired at end-inspiration (INSP) and end-expiration (EXP) were registered by optical flow to obtain Δ1H-MRI maps as a measure of regional ventilation. We defined the percent of low ventilation volume (%LVV) as the percent of lung volume with Δ1H-MRI less than 5% of the mean heart signal. Maps of Δ1H-MRI (Fig. 1A) and corresponding maps of %LVV (Fig.1B) are shown in two representative patients. In the overall population, %LVV ranged from 4.7% to 28% of total lung volume. %LVV negatively correlated with FEV1 %pred (r2=0.36, p=0.0007) and positively correlated with LCI (r2=0.66, p In conclusion, quantitative multivolume MRI correlated with FEV1 %pred and LCI, with a strong relationship with ventilation heterogeneity. Thus, MRI, as a non-ionizing imaging technique, is particularly attractive in CF care for longitudinal evaluation, providing a unique tool to regionally map early pulmonary alterations.

Pediatric Rheumatology, Sep 1, 2014

Muscle & Nerve, Jan 6, 2017

Poster: "ECR 2011 / C-1067 / Chest CT imaging interpretation in young patients with cystic f... more Poster: "ECR 2011 / C-1067 / Chest CT imaging interpretation in young patients with cystic fibrosis (CF): comparison of axial versus spiral HRCT" by: "I. M. Borzani1, M. Campoleoni1, N. Bonelli1, M. C. Russo1, P. Biondetti2, C. Colombo1; 1Milan/IT, 2Milano/IT"