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Papers by Maria Bondioni

Folia Morphologica, 2020

Background: Five-fingered hand (5-FH) with complete developed phalanges is a rare phenotype obser... more Background: Five-fingered hand (5-FH) with complete developed phalanges is a rare phenotype observed so far only in humans and characterized by three phalanges of the 1 st ray. A long-lasting, debated question is if the missing element of the normal hand 1 st ray is the metacarpal or the phalanx. In this study, comparative X-rays morphometry of long bones in normal and 5-FH is carried out with the aim to face this question through homology analysis of long bone segments in the transverse and longitudinal line of normal hand and 5-FH. Materials and methods: In the normal hand X-rays (n =20) and in a 5-FHX-rays series (n=9) the relative length of each segment on the ray total length and the index of growth rate (IGR) 2 were assessed. The calculation of the first parameter in normal hand bi-phalangeal thumb was carried out on the 3 rd ray total length in the same hand. Results: The parameters relative length and the proximal/distal growth rate asymmetry in the post-natal period (assessed through the IGR) confirmed in 5-FH the homology of all the five segment on the transverse line. In the normal control hand, the relative length assessment methodology was biased by the missing segment of the thumb, therefore, the reference to the 3 rd ray total length in the same hand (instead of the 1 st), allowed the homology analysis of the thumb metacarpal and 1 st phalanx with the lateral segments (2 nd-5 th ray) of the same hand. The 5-FH analysis was used to choose the more appropriate reference ray for the normal hand group. Conclusions: The relative length and IGR comparative analysis in the two groups suggested homology of the (anatomical) 1 st metacarpal with the 2 nd-5 th proximal phalanges in the same hand and that of the (anatomical) 1 st proximal phalanx with the 2 nd-5 th mid phalanges. These data suggest that the missing segment of the thumb normal hand is the metacarpal.

Journal of Clinical Immunology, 2019

Indian Journal of Dermatology, Venereology, and Leprology, 2015

Pediatric Radiology, 2002

Journal of Magnetic Resonance Imaging, 2003

Purpose: To compare the efficacy of two different MR contrast agents for the detection and diagno... more Purpose: To compare the efficacy of two different MR contrast agents for the detection and diagnosis of focal nodular hyperplasia (FNH). Materials and Methods: Fifty patients with 83 FNH lesions detected on spiral CT were studied in two different MRI sessions with Gd-BOPTA (MultiHance) and ferumoxides (Endorem®). MRI with Gd-BOPTA was performed precontrast (T1wGRE and T2wTSE sequences) and during the dynamic and late (1-3 hours) phases after injection (T1wGRE sequences only). MRI with ferumoxides (T1wGRE and T2wTSE sequences) was performed before and at least 30 minutes after injection. Hyper-or isointensity of FNH in the late phase was considered typical for Gd-BOPTA, while isointensity or lesion hypointensity was considered typical for ferumoxides. Results: With Gd-BOPTA, 83 FNH lesions (100%) appeared hyperintense during the arterial phase of dynamic MRI. All but one lesion was iso-or slightly hyperintense in the portal-venous and equilibrium phases. In the late phase, 81 FNH lesions were hyper-or isointense to the surrounding parenchyma, with two lesions appearing slightly hypointense. With ferumoxides, a significant (P Ͻ 0.001) number (21/83, 25.3%) of FNH lesions (mean diameter ϭ 16.8 Ϯ 6.6 mm) were not visible. Of the visible FNH lesions, 38/62 were slightly hyperintense, and 24/62 were isointense to the surrounding parenchyma on the T2wTSE images. On the T1wGRE images, 42/62 lesions were isointense, 19/62 were slightly hyperintense, and one lesion was slightly hypointense. Seventeen lesions in 12 patients with previous neoplasia were all detected after Gd-BOPTA administration, whereas only nine of these 17 lesions (52.9%) were detected after ferumoxide administration. Two of these nine lesions showed atypical enhancement features. Conclusion: Gd-BOPTA-enhanced MRI is significantly better than ferumoxide-enhanced MRI for the identification and characterization of FNH.

Investigative Radiology, 2011

Purpose: To evaluate hepatobiliary phase magnetic resonance imaging with gadobenate dimeglumine f... more Purpose: To evaluate hepatobiliary phase magnetic resonance imaging with gadobenate dimeglumine for differentiation of benign hypervascular liver lesions from malignant or high-risk lesions. Methods and Materials: Retrospective assessment was performed of 550 patients with 910 hypervascular lesions (302 focal nodular hyperplasia ͓FNH͔, 82 nodular regenerative hyperplasia ͓NRH͔, 59 hepatic adenoma or liver adenomatosis ͓HA/LA͔, 329 hepatocellular carcinomas ͓HCC͔, 12 fibrolamellar-HCC ͓FL-HCC͔, 21 peripheral cholangiocarcinomas ͓PCC͔, 105 metastases). Imaging was performed before and during the arterial, portal-venous, equilibrium, and hepatobiliary phases after gadobenate dimeglumine administration (0.05 mmol/kg). Histologic confirmation was available for Ն1 lesion per patient, except for patients with suspected FNH (diagnosis based on characteristic enhancement/follow-up). Lesion differentiation (benign/malignant) on the basis of contrast washout and lesion enhancement (hypo-/iso-/hyperintensity) was assessed (sensitivity, specificity, accuracy, PPV, and NPV) relative to histology or final diagnosis. Results: On portal-venous or equilibrium phase images, washout was not seen for 208 of 526 (39.5%) malignant (HCC, FL-HCC, PCC, metastases) and high-risk (HA/LA) lesions. Conversely, only 5 of 384 (1.3%) true benign lesions (FNH/NRH) showed washout. Taking washout as indicating malignancy, the sensitivity, specificity, and accuracy for malignant lesion identification during these phases was 61.8%, 98.7%, and 77.4%. On hepatobiliary phase images, 289 of 302 FNH, 82 of 82 NRH, 1 of 59 HA or LA, 62 of 341 HCC or FL-HCC, and 2 of 105 metastases were hyperintense or isointense. Taking iso-or hyperintensity as an indication for lesion benignity, the sensitivity, specificity, accuracy, PPV, and NPV for benign lesion identification was 96.6%, 87.6%, 91.4%, 85.1%, and 97.3%, respectively. Conclusions: Hepatobiliary phase imaging with gadobenate dimeglumine is accurate for distinguishing benign lesions from malignant or high-risk lesions. Biopsy should be considered for hypointense lesions on hepatobiliary phase images after gadobenate dimeglumine.

The use of general descriptive names, registered names, trademarks, etc. in this publication does... more The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature.

International Journal of Pediatric Otorhinolaryngology Extra, 2008

Contributions to Nephrology, 1997

Ultrasound in Obstetrics and Gynecology, 2010

Objectives Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of... more Objectives Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and extraskeletal defects, many of which can now be identified prenatally using advanced ultrasound equipment. The disorder is caused by mutations in SRY-box 9 (SOX9), a gene that is abundantly expressed in chondrocytes as well as in other tissues. However, the correlation between genotype and phenotype is still unclear. We report five cases of prenatally detected campomelic dysplasia in which the diagnosis was confirmed by molecular analysis.

Respiration, 2007

Primary immune deficiencies (PID) comprise a heterogeneous group of genetically determined disord... more Primary immune deficiencies (PID) comprise a heterogeneous group of genetically determined disorders that affect development and/or function of innate or adaptive immunity. Consequently, patients with PID suffer from recurrent and/or severe infections that frequently involve the lung. While the nature of the immune defect often dictates the type of pathogens that may cause lung infection, there is substantial overlap of radiological findings, so that appropriate laboratory tests are mandatory to define the nature of the immune defect and to prompt appropriate treatment. At the same time, the recent identification of a large number of PID-causing genes now allows early, even presymptomatic diagnosis, thus representing an essential tool for prevention of lung damage. This review article describes the most common forms of PID, their cellular and molecular bases, and the associated lung abnormalities, and reports on available treatment.

Journal of Computer Assisted Tomography, 2007

Objective: The aims of the study were 1) to identify and quantify pulmonary changes in subjects a... more Objective: The aims of the study were 1) to identify and quantify pulmonary changes in subjects affected by agammaglobulinemia (AG), and common variable immunodeficiency (CVID) and 2) to assess the incidence, type, and degree of chronic sinusitis and their relation to pulmonary changes. Methods: Forty-five patients affected by AG (18) and CVID underwent computed tomography of lungs and paranasal sinuses. Results: Of 45 patients, 26 (57.7%) had pulmonary changes, more frequent among CVID than AG patients (P = 0.37). Bronchiectases were detected in 7 of 12 AG and in 9 of 14 CVID; the difference is not statistically significant (P = 0.53). Computed tomographic findings of chronic sinusitis were detected in 41 of 45 patients. There was no statistically significant difference between AG and CVID patients. Bronchial and sinusal abnormalities did not correlate in 11 patients followed longitudinally. Conclusions: On computed tomography, the type and severity of lung lesions do not correlate either with the type of immunodeficiency or with the severity of the sinusal involvement.

American Journal of Medical Genetics Part A, 2013

Wave-shaped ribs were detected at prenatal ultrasound in a 20 þ1 week female fetus. At birth, ske... more Wave-shaped ribs were detected at prenatal ultrasound in a 20 þ1 week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood.

La radiologia medica, 2014

The aim of this study was to evaluate the diagnostic accuracy of postnatal multidetector computed... more The aim of this study was to evaluate the diagnostic accuracy of postnatal multidetector computed tomography (MDCT) compared with prenatal ultrasound (US), surgical findings, and histology, in 33 patients with congenital cystic lung disease. Thirty-three patients, 17 males and 16 females, were evaluated by MDCT. Twenty-seven of these patients underwent prenatal US between week 18 and 22, and between week 32 and 35 of gestation. Lung lobectomy, segmentectomy, atypical resection, lesion resection were performed in 31 patients and surgical specimens were analysed. Prenatal US and MDCT correctly diagnosed 76.9 and 94 % of the lesions, respectively. Disagreement occurred in six lesions with prenatal US and in two lesions with MDCT. No statistically significant differences were observed between the two techniques (P = 0.122). As most surgeons consider the surgical resection of these lesions mandatory, our study underscores the essential role of imaging, in particular CT, in providing invaluable preoperative information on congenital cystic lung diseases recognised in uterus.