94 results on '"Tuo, G."'
Search Results
2. Prenatal detection of congenital heart disease at 12–13 gestational weeks: detailed analysis of false‐negative cases
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Bottelli, L., primary, Franzè, V., additional, Tuo, G., additional, Buffelli, F., additional, and Paladini, D., additional
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- 2022
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3. Color Doppler visualization of fetal coronary arteries is enhanced by high resolution and Radiantflow
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Paladini, D., primary, Bottelli, L., additional, Lops, G., additional, and Tuo, G., additional
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- 2022
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4. Prenatal detection of congenital heart disease at 12–13 gestational weeks: detailed analysis of false‐negative cases.
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Bottelli, L., Franzè, V., Tuo, G., Buffelli, F., and Paladini, D.
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CONGENITAL heart disease ,IMAGE analysis ,FETAL echocardiography ,MULTIPLE pregnancy ,FETAL surgery ,FETOFETAL transfusion - Abstract
Objectives: To report on the early detection of congenital heart disease (CHD) in low‐ and high‐risk populations managed at our hospital; and perform a detailed analysis of false‐negative diagnoses, in order to derive possible recommendations on how to reduce their incidence. Methods: This was a retrospective observational study analyzing cases which underwent an ultrasound examination at the end of the first trimester at the Fetal Medicine and Surgery Unit of Gaslini Children's Hospital, Genoa, Italy, in the period January 2015 to December 2021. The study population included both low‐risk pregnancies that underwent standard first‐trimester combined screening and high‐risk ones referred to our unit because of a positive combined test or suspicion of fetal anomalies raised in a regional community hospital. For each case, the following variables were retrieved and analyzed: number of fetuses, maternal body mass index, gestational age at first‐trimester screening, whether the pregnancy was low or high risk, nuchal translucency thickness (normal or > 99th centile), type of CHD, associated extracardiac anomalies, karyotype and pregnancy outcome. For low‐risk pregnancies, suspicion of CHD was also recorded. In low‐risk cases, sonographic cardiac screening comprised evaluation of the four‐chamber view (grayscale and color/power Doppler) and three‐vessel‐and‐trachea view (color/power Doppler). High‐risk cases underwent early fetal echocardiography. False‐negative cases were categorized according to likely cause of the missed diagnosis, as follows: human factor; technical factor; acoustic‐window factor. Results: Gestational age at ultrasound ranged from 12 + 0 to 13 + 6 weeks (crown–rump length (CRL), 50.1–84.0 mm) in the low‐risk group and from 11 + 5 to 13 + 6 weeks (CRL, 45.1–84.0 mm) in the high‐risk group. Over the 7‐year study period, 7080 pregnancies were evaluated in the first trimester. Of these, 6879 (7167 fetuses) were low‐risk and 201 were high‐risk cases. In the low‐risk group, there were 30 fetuses with CHD (including 15 major and 15 minor CHD), yielding a prevalence of 4.2/1000 (2.1/1000 for major CHD). Nine of the 30 CHD cases were suspected at screening ultrasound (7/15 major CHD). Excluding cases in which the CHD would not be expected to be associated with a modification of the screening views and would therefore not be detectable on screening ultrasound, 7/12 cases of major CHD were detected, corresponding to a sensitivity of 58.3%. Among the 201 high‐risk cases, there were 46 fetuses with CHD (including 44 major and two minor CHD), of which 43 were detected, corresponding to a sensitivity for early fetal echocardiography of 93.5%, or 97.7% if the two cases that were unlikely to be detectable on first‐trimester screening were excluded. Analysis of the 11 (of 24) false‐negative cases that would be expected to be picked up on screening views revealed that human error (image interpretation and/or scanning approach) was involved in all 11 cases and technical factors (excessive color priority (color‐balance function) and/or incorrect plane alignment) were present in two. There was impairment of the acoustic window (associated with maternal obesity and/or twin gestation) as a cofactor in five of the 11 cases. Conclusions: The sensitivity for detection of major CHD of early cardiac screening in low‐risk pregnancy is under 60%, partly due to the natural history of CHD and, it seems, partly relating to human error and technical issues with image quality. Factors associated with false‐negative diagnoses may be categorized into three types: human error, technical factors and acoustic‐window impairment. We recommend: appropriate assessment with fetal posterior spine; that sufficient time is spent on assessment of the fetal situs; and that color/power Doppler settings are adapted to the individual case. A lower threshold for referring doubtful cases for early fetal echocardiography should be adopted in cases of maternal obesity and in twin gestation. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]
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- 2023
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5. Unexplained right atrial enlargement may be a sign of Holt–Oram syndrome in the fetus
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Paladini, D., Tiesi, M., Buffi, D., Tuo, G., and Marasini, M.
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- 2014
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6. Frontal lobe growth is impaired in fetuses with congenital heart disease
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Paladini, D., primary, Finarelli, A., additional, Donarini, G., additional, Parodi, S., additional, Lombardo, V., additional, Tuo, G., additional, and Birnbaum, R., additional
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- 2021
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7. Redundancy of foramen ovale flap may mimic fetal aortic coarctation
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Vena, F., primary, Donarini, G., additional, Scala, C., additional, Tuo, G., additional, and Paladini, D., additional
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- 2020
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8. LncRNA TUG1 promotes tumor growth and metastasis of esophageal squamous cell carcinoma by regulating XBP1 via competitively binding to miR-498
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Jin, G., primary, Yang, Y., additional, Tuo, G., additional, Wang, W., additional, and Zhu, Z., additional
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- 2020
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9. Fetal interrupted aortic arch: 2D-4D echocardiography, associations and outcome
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Volpe, P., Tuo, G., De Robertis, V., Campobasso, G., Marasini, M., Tempesta, A., Gentile, M., and Rembouskos, G.
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- 2010
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10. Long-term results of catheter-based treatment of pulmonary atresia and intact ventricular septum
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Marasini, M, Gorrieri, P F, Tuo, G, Zannini, L, Guido, P, Pellegrini, M, Bondanza, S, Calevo, M G, and Pongiglione, G
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- 2009
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11. Prenatal Echocardiographic Assessment of Foramen Ovale Appearance in Fetuses with D-Transposition of the Great Arteries and Impact on Neonatal Outcome
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Tuo G., Paladini D., Montobbio G., Volpe P., Cheli M., Calevo M. G., Marasini M., Tuo, G., Paladini, D., Montobbio, G., Volpe, P., Cheli, M., Calevo, M. G., and Marasini, M.
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Male ,Transposition of great vessel ,Ductus Arteriosu ,Prognosi ,Risk Factor ,Prenatal diagnosi ,Video Recording ,Pulmonary Vein ,Hospitals, Pediatric ,Combined Modality Therapy ,Severity of Illness Index ,Ultrasonography, Prenatal ,Echocardiography, Doppler, Color ,Arterial Switch Operation ,Italy ,Echocardiography ,Pregnancy ,Retrospective Studie ,Female ,Postoperative Complication ,Fetu ,Angioplasty, Balloon, Coronary ,Hypoxia ,Foramen Ovale ,Human - Abstract
Introduction: Neonates with D-transposition of the great arteries (dTGA) may die at birth because of the inadequate intracardiac mixing due to a misdiagnosed restrictive foramen ovale. We reviewed our experience in echocardiographic assessment and perinatal management of fetuses with dTGA searching for new features that may predict the need for urgent balloon atrial septostomy (BAS) immediately after birth. Patients and Methods: We included fetuses diagnosed with dTGA between January 2000 and December 2014. We assessed pre- A nd postnatal appearance of the foramen ovale, ductus arteriosus and pulmonary veins. Both the diagnostic findings at the time of last prenatal echocardiogram and those findings deriving from a retrospective reevaluation of stored videos were considered. BAS was defined as urgent if performed in neonates with restrictive foramen ovale and severe hypoxemia. Results: We reviewed 40 fetuses with dTGA. 20/40 fetuses received urgent BAS at birth. Not only the restrictive but also the hypermobile and the redundant appearance of the foramen ovale was significantly associated with urgent BAS (p < 0.0001, p = 0.002 and p = 0.0001, respectively). Conclusions: Prenatal evaluation of the foramen ovale appearance in fetuses with dTGA is still challenging. Based on our experience, also the redundant foramen ovale appearance may need urgent BAS at birth.
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- 2017
12. P02.07: Prediction of emergency balloon atrioseptostomy at birth in transposition of the great arteries: a different approach
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Paladini, D., primary, Donarini, G., additional, Tuo, G., additional, Scala, C., additional, and Marasini, M., additional
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- 2019
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13. Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta‐analysis
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Paladini, D., primary, Pistorio, A., additional, Wu, L. H., additional, Meccariello, G., additional, Lei, T., additional, Tuo, G., additional, Donarini, G., additional, Marasini, M., additional, and Xie, H.‐N., additional
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- 2018
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14. Per Ippolito Rosellini
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Farina, Tuo G.
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- 1924
15. Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus
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PALADINI, DARIO, Tiesi, M, Buffi, D, Tuo, G, Marasini, M., Paladini, Dario, Tiesi, M, Buffi, D, Tuo, G, and Marasini, M.
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atriodigital dysplasia ,Heart Defects, Congenital ,Male ,Prenatal Diagnosi ,Infant, Newborn ,Pregnancy Outcome ,fetu ,Abortion, Induced ,Cardiomegaly ,Genetic Counseling ,fetal echocardiography ,skeletal anomaly ,right atrium ,Heart Septal Defects, Atrial ,Pregnancy ,Abnormalities, Multiple ,Female ,Heart Atria ,Upper Extremity Deformities, Congenital ,Human ,Lower Extremity Deformities, Congenital - Abstract
Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents.
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- 2014
16. P27.05: Prenatal diagnosis of total anomalous pulmonary venous connections (TAPVC): multicentre cohort study and meta-analysis
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Paladini, D., primary, Pistorio, A., additional, Wu, L., additional, Meccariello, G., additional, Lei, T., additional, Tuo, G., additional, Donarini, G., additional, Marasini, M., additional, and Xie, H., additional
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- 2017
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17. Vein of Galen aneurysmal malformation (VGAM) in the fetus: retrospective analysis of perinatal prognostic indicators in a two-center series of 49 cases
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Paladini, D., primary, Deloison, B., additional, Rossi, A., additional, Chalouhi, G. E., additional, Gandolfo, C., additional, Sonigo, P., additional, Buratti, S., additional, Millischer, A. E., additional, Tuo, G., additional, Ville, Y., additional, Pistorio, A., additional, Cama, A., additional, and Salomon, L. J., additional
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- 2017
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18. P20.04: Fetal double aortic arch: 2D and 4D echocardiography, associations and outcome
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De Robertis, V., primary, Tuo, G., additional, Rembouskos, G., additional, Fanelli, T., additional, Marasini, M., additional, and Volpe, P., additional
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- 2016
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19. OC06.06: Vein of Galen aneurysm: analysis of perinatal determinants of prognosis in a single centre series of 19 cases
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Paladini, D., primary, Buratti, S., additional, Martinetti, C., additional, Tuo, G., additional, Marasini, M., additional, Lampugnani, E., additional, Donarini, G., additional, Gandolfo, C., additional, and Rossi, A., additional
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- 2015
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20. P09.14: Sonographic characteristics of the atrial septum in fetuses with d-transposition of the great arteries needing emergency neonatal balloon atrioseptostomy
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Paladini, D., primary, Tuo, G., additional, Buffi, D., additional, Volpe, P., additional, De Robertis, V., additional, Zannini, L., additional, and Marasini, M., additional
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- 2014
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21. Familial transposition of the great arteries caused by multiple mutations in laterality genes
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De Luca, A., primary, Sarkozy, A., additional, Consoli, F., additional, Ferese, R., additional, Guida, V., additional, Dentici, M. L., additional, Mingarelli, R., additional, Bellacchio, E., additional, Tuo, G., additional, Limongelli, G., additional, Digilio, M. C., additional, Marino, B., additional, and Dallapiccola, B., additional
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- 2009
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22. OP17.08: Prenatal diagnosis and outcome of isolated vascular rings
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De Robertis, V., primary, Campobasso, G., additional, Tuo, G., additional, Rembouskos, G., additional, Marasini, M., additional, and Volpe, P., additional
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- 2009
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23. Low-temperature sequence of phase transitions inLiKSO4studied by EPR
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Perpe´tuo, G. J., primary, Dantas, M. S. S., additional, Gazzinelli, R., additional, and Pimenta, M. A., additional
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- 1992
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24. Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.
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De Robertis, V., Tuo, G., Rembouskos, G., Fanelli, T., Marasini, M., and Volpe, P.
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THORACIC aorta , *FETAL echocardiography , *MEDICAL imaging systems - Abstract
An abstract of the article "Fetal double aortic arch: 2D and 4D echocardiography, associations and outcome," by V. De Robertis and colleagues is presented.
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- 2016
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25. Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
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Giulio Calcagni, Maria Giovanna Russo, Gabriella Agnoletti, Giuseppe Pacileo, Maurizio Brighenti, Roberto Formigari, Giulia Tuo, Sonia B. Albanese, Ornella Milanesi, Marta Unolt, Francesca Cairello, Giuseppina Baldassarre, Enrica De Luca, Maria Cristina Digilio, Bruno Dallapiccola, Giovanni Battista Ferrero, Bruno Marino, Elena Banaudi, Maurizio Marasini, Anwar Baban, Fabrizio Drago, Jan Marek, Giulia Gagliostro, Giuseppe Limongelli, Luca Ragni, Andrea Donti, Marco Tartaglia, Juan Pablo Kaski, Paolo Versacci, Andrea Madrigali, Calcagni, G., Gagliostro, G., Limongelli, G., Unolt, M., De Luca, E., Digilio, M. C., Baban, A., Albanese, S. B., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Marasini, M., Cairello, F., Madrigali, A., Pacileo, G., Russo, M. G., Milanesi, O., Formigari, R., Brighenti, M., Ragni, L., Donti, A., Drago, F., Dallapiccola, B., Tartaglia, M., Marino, B., and Versacci, P.
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0301 basic medicine ,Aortic valve ,Adult ,Heart Defects, Congenital ,Embryology ,medicine.medical_specialty ,Adolescent ,Health, Toxicology and Mutagenesis ,medicine.medical_treatment ,030105 genetics & heredity ,RASopathy ,Toxicology ,Pericardial effusion ,CardioFacioCutaneous syndrome ,03 medical and health sciences ,Young Adult ,Ectodermal Dysplasia ,Internal medicine ,medicine ,Noonan syndrome multiple lentigines ,Noonan syndrome multiple lentigine ,Humans ,Noonan syndrome ,Child ,RASopathies ,Retrospective Studies ,congenital heart disease ,business.industry ,Mitral valve replacement ,Hypertrophic cardiomyopathy ,Middle Aged ,medicine.disease ,Cardiac surgery ,Failure to Thrive ,030104 developmental biology ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Pulmonary valve stenosis ,Cardiology ,ras Proteins ,business ,Developmental Biology - Abstract
Background RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. Methods A retrospective, multicentric observational study (CArdiac Rasopathy NETwork-CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected. Results Forty-five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow-up was 20.1 years (range 6.9-47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019. Conclusions Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended.
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- 2020
26. Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta‐analysis
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G. Donarini, Hong-Ning Xie, Angela Pistorio, Gabriella Meccariello, Lihong Wu, Maurizio Marasini, Dario Paladini, Giulia Tuo, Ting Lei, Paladini, D., Pistorio, A., Wu, L. H., Meccariello, G., Lei, T., Tuo, G., Donarini, G., Marasini, M., and Xie, H. -N.
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Heart Defects, Congenital ,medicine.medical_specialty ,Heart malformation ,fetu ,Gestational Age ,Prenatal diagnosis ,030204 cardiovascular system & hematology ,anomalous venous connection ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Retrospective Studie ,Scimitar syndrome ,Prenatal Diagnosis ,Internal medicine ,Humans ,echocardiography ,Medicine ,Radiology, Nuclear Medicine and imaging ,Vein ,Retrospective Studies ,030219 obstetrics & reproductive medicine ,Radiological and Ultrasound Technology ,business.industry ,Scimitar Syndrome ,Pregnancy Outcome ,Obstetrics and Gynecology ,Pulmonary Vein ,Retrospective cohort study ,General Medicine ,medicine.disease ,Venous Obstruction ,Echocardiography, Doppler, Color ,Surgery ,medicine.anatomical_structure ,Reproductive Medicine ,Pulmonary Veins ,meta-analysis of IPD ,Cardiology ,Female ,business ,Venous return curve ,Human ,Cohort study - Abstract
Objectives: The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS). Methods: A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970–2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features. Results: For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1–41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5–30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7–47.7%), a favorable outcome in 43.8% (95% CI, 24.0–65.8%), ventricular disproportion in 59.2% (95% CI, 45.1–72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1–73.5%) and a vertical vein in 59.3% (95% CI, 41.1–75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3–93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available. Conclusions: TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
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- 2018
27. Vein of Galen aneurysmal malformation (VGAM) in the fetus: retrospective analysis of perinatal prognostic indicators in a two-center series of 49 cases
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D, Paladini, B, Deloison, A, Rossi, G E, Chalouhi, C, Gandolfo, P, Sonigo, S, Buratti, A E, Millischer, G, Tuo, Y, Ville, A, Pistorio, A, Cama, L J, Salomon, Paladini, D., Deloison, B., Rossi, A., Chalouhi, G. E., Gandolfo, C., Sonigo, P., Buratti, S., Millischer, A. E., Tuo, G., Ville, Y., Pistorio, A., Cama, A., and Salomon, L. J.
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Adult ,prenatal diagnosi ,brain anomaly ,Cerebral Vein ,Predictive Value of Test ,fetal echocardiography ,Cerebral Veins ,Magnetic Resonance Imaging ,Ultrasonography, Prenatal ,Italy ,Predictive Value of Tests ,Pregnancy ,Retrospective Studie ,Vein of Galen Malformations ,Humans ,Female ,Vein of Galen Malformation ,Retrospective Studies ,Human - Abstract
Objective: Vein of Galen aneurysmal malformation (VGAM) is a rare fetal anomaly, the neurological outcome of which can be good with appropriate perinatal management. However, most fetal series are too small to allow reliable statistical assessment of potential prognostic indicators. Our aim was to assess, in a two-center series of 49 cases, the prognostic value of several prenatal variables, in order to identify possible prenatal indicators of poor outcome, in terms of mortality and cerebral disability. Methods: This was a retrospective study involving 49 cases of VGAM diagnosed prenatally and managed at two centers over a 17-year period (1999–2015). All cases had undergone detailed prenatal cerebral and cardiac assessment by grayscale ultrasound, color and pulsed-wave Doppler and magnetic resonance imaging (MRI). Ultrasound and MRI examination reports and images were reviewed and outcome information was obtained from medical reports. Volume of the VGAM (on ultrasound and MRI) was calculated and development of straight-sinus dilatation, ventriculomegaly and other major brain abnormalities was noted. Cardiothoracic ratio, tricuspid regurgitation and reversed blood flow across the aortic isthmus were evaluated on fetal echocardiography. Major brain lesions were considered by definition to be associated with poor outcome in all cases. Pregnancy and fetoneonatal outcome were known in all cases. Fetoneonatal outcome and brain damage were considered as dependent variables in the statistical evaluation. Poor outcome was defined as death, late termination of pregnancy due to association with related severe brain anomalies or severe neurological impairment. Results: At a mean follow-up time of 20 (range, 0–72) months, 36.7% of the whole series and 52.9% of the cases which did not undergo late termination were alive and free of adverse sequelae. Five (10.2%) cases showed progression of the lesion between diagnosis and delivery. On univariate analysis, dilatation of the straight sinus, VGAM volume ≥ 20 000 mm3 and tricuspid regurgitation were all significantly related to poor outcome. However, on logistic regression analysis, the only variables associated significantly with poor outcome were tricuspid regurgitation and, to a lesser extent, VGAM volume ≥ 20 000 mm3. The former was also the only variable associated with brain damage. Conclusions: Major brain lesions, tricuspid regurgitation and, to a lesser extent, VGAM volume ≥ 20 000 mm3 are the only prenatal variables associated with poor outcome in fetal VGAM. Prenatal multidisciplinary counseling should be based on these variables. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
- Published
- 2017
28. Familial transposition of the great arteries caused by multiple mutations in laterality genes
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Giuseppe Limongelli, Federica Consoli, Valentina Guida, Emanuele Bellacchio, Alessandro De Luca, Rosangela Ferese, Bruno Dallapiccola, Bruno Marino, Giulia Tuo, Maria Lisa Dentici, Anna Sarkozy, Maria Cristina Digilio, Rita Mingarelli, De Luca, A, Sarkozy, A, Consoli, F, Ferese, R, Guida, V, Dentici, Ml, Mingarelli, R, Bellacchio, E, Tuo, G, Limongelli, Giuseppe, Digilio, Mc, Marino, B, and Dallapiccola, B.
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Proband ,Male ,medicine.medical_specialty ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,Transposition of Great Vessels ,Pedigree chart ,medicine.disease_cause ,Transposition (music) ,Internal medicine ,medicine ,Missense mutation ,Humans ,Gene ,Genetics ,Mutation ,business.industry ,Transposition of the great vessels ,medicine.disease ,Pedigree ,Endocrinology ,Amino Acid Substitution ,Female ,Cardiology and Cardiovascular Medicine ,business ,Heterotaxy - Abstract
Background The pathogenesis of transposition of the great arteries (TGA) is still largely unknown. In general, TGA is not associated with the more common genetic disorders nor with extracardiac anomalies, whereas it can be found in individuals with lateralisation defects, heterotaxy and asplenia syndrome (right isomerism). Objective To analyse genes previously associated with heterotaxy in order to assess mutations in familial TGA unassociated with other features of laterality defects. Methods Probands of seven families with isolated TGA and a family history of concordant or discordant congenital heart disease were screened for mutations in the ZIC3 , ACVR2B , LEFTYA , CFC1 , NODAL , FOXH1 , GDF1 , CRELD1 , GATA4 and NKX2.5 genes. Results Mutation analysis allowed the identification of three sequence variations in two out of seven TGA probands. A FOXH1 (Pro21Ser) missense variant was found in a proband who was also heterozogous for an amino acid substitution (Gly17Cys) in the ZIC3 gene. This ZIC3 variant was also found in another family member with a second sequence variation (Val150Ile) in the NKX2.5 gene homeodomain who was affected by multiple ventricular septal defects. A second proband was found to harbour a splice site variant (IVS2-1G→C) in the NODAL gene. Conclusions The present study provides evidence that some cases of familial TGA are caused by mutations in laterality genes and therefore are part of the same disease spectrum of heterotaxy syndrome, and argues for an oligogenic or complex mode of inheritance in these pedigrees.
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- 2010
29. Vein of Galen aneurysmal malformation: does size affect outcome?
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Parodi C, Aluffi Valletti M, Tortora D, Buratti S, Mallamaci M, Tuo G, Pistorio A, Moscatelli A, Rossi A, and Severino M
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- Humans, Male, Female, Retrospective Studies, Reproducibility of Results, Infant, Newborn, Infant, Imaging, Three-Dimensional methods, Cerebral Veins diagnostic imaging, Cerebral Veins abnormalities, Vein of Galen Malformations diagnostic imaging, Magnetic Resonance Angiography methods
- Abstract
Purpose: To validate a semiautomated method for segmenting vein of Galen aneurysmal malformations (VGAM) and to assess the relationship between VGAM volume and other angioarchitectural features, cardiological findings, and outcomes., Methods: In this retrospective study, we selected all subjects with VGAM admitted to the Gaslini Children's Hospital between 2009 and 2022. Clinical data were retrieved from electronic charts. We compared 3D-Slicer segmented VGAM volumes obtained by two independent observers using phase-contrast MR venography to those obtained with manual measurements performed on T2-weighted images. The relationship between VGAM volumes and clinical and neuroimaging features was then explored., Results: Forty-three subjects with VGAM (22 males, mean age 6.56 days) were included in the study. Manual and semiautomated VGAM volumes were well correlated for both readers (r = 0.86 and 0.82, respectively). Regarding reproducibility, the inter-rater interclass correlation coefficients were 0.885 for the manual method and 0.992 for the semiautomated method (p < 0.001). The standard error for repeated measures was lower for the semiautomated method (0.04 versus 0.40 of manual method). Higher VGAM volume was associated with superior sagittal sinus narrowing, jugular bulb stenosis, and aqueductal stenosis (p < 0.05). A weak correlation was found between VGAM volume and straight sinus dilatation (r = 0.331) and superior sagittal sinus index (r = - 0.325). No significant associations were found with cardiac findings, post-embolization complications, and outcome (p > 0.05)., Conclusions: Semiautomated VGAM volumetry is feasible and reliable with improved reproducibility compared to the manual method. VGAM volume is not a prognostic factor for clinical outcome, but it is related to other venous findings with potential hemodynamic effects., (© 2024. The Author(s).)
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- 2024
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30. Borderline Ventricles: From Evaluation to Treatment.
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Mazza GA, Oreto L, Tuo G, Sirico D, Moscatelli S, Meliota G, Micari A, Guccione P, Rinelli G, and Favilli S
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A heart with a borderline ventricle refers to a situation where there is uncertainty about whether the left or right underdeveloped ventricle can effectively support the systemic or pulmonary circulation with appropriate filling pressures and sufficient physiological reserve. Pediatric cardiologists often deal with congenital heart diseases (CHDs) associated with various degrees of hypoplasia of the left or right ventricles. To date, no specific guidelines exist, and surgical management may be extremely variable in different centers and sometimes even in the same center at different times. Thus, the choice between the single-ventricle or biventricular approach is always controversial. The aim of this review is to better define when "small is too small and large is large enough" in order to help clinicians make the decision that could potentially affect the patient's entire life., Competing Interests: The authors declare no conflicts of interest.
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- 2024
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31. Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center.
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Buratti S, Mallamaci M, Tuo G, Severino M, Tortora D, Parodi C, Rossi A, Pasetti F, Castellan L, Capra V, Romano F, De Marco P, Pavanello M, Piatelli G, Paladini D, Calevo MG, and Moscatelli A
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Background: Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes., Objective: To describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes., Methods: This is a single center retrospective cohort study including all consecutive newborns with VGAM admitted to Gaslini Children's Hospital between 2009 and 2022. We reviewed clinical data, intensive care support, fetal and neonatal cardiologic and neuroradiologic findings and we studied the association with severe HOHF, endovascular complications and death., Results: Out of 40 newborns, 17 (42.5%) developed severe HOHF requiring early endovascular procedures. Medical treatment was focused on the main components of HOHF by providing inotropic support and peripheral vasodilation. Pulmonary vasodilators were avoided to reduce the negative effects of pulmonary overflow and prevent vascular remodeling. Reduction of the obligatory left to right shunt through the VGAM was possible only through endovascular treatment. Fetal cardiothoracic ratio was significantly associated with severe HOHF at birth and death. Cardiologic parameters of right ventricular overload, pulmonary hypertension and systemic steal were the leading findings associated with haemodynamic compromise at birth. The mediolateral diameter of the straight or falcine sinus at its shortest section (SS-MD), and arterial pseudofeeders were significantly associated with severe HOHF at birth in prenatal and postnatal assessments. None of the postnatal echocardiographic and MRI variables, nor a higher inotropic support were associated with major periprocedural complications or death. Mortality was due to palliation for congenital severe brain damage (4/40, 10%), or major periprocedural complications (3/40, 7.5%). None of the patients died due to HOHF and multiorgan failure. Overall survival at discharge was 82.5% (33/40)., Conclusions: The complexity of neonatal VGAM pathophysiology requires a multidisciplinary approach, specialized intensive care management, and early endovascular treatment to reduce mortality and optimize clinical outcomes. Cardiologic and neuroradiologic parameters are key to define risk stratification and treatment strategies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Buratti, Mallamaci, Tuo, Severino, Tortora, Parodi, Rossi, Pasetti, Castellan, Capra, Romano, De Marco, Pavanello, Piatelli, Paladini, Calevo and Moscatelli.)
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- 2023
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32. Fetal aortic coarctation: A combination of third-trimester echocardiographic parameters to improve the prediction of postnatal outcome.
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Tuo G, Paladini D, Marasini L, Buratti S, De Tonetti G, Calevo MG, and Marasini M
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Objectives: This study aims to determine a combination of third-trimester echocardiographic parameters for improving the prenatal prediction of coarctation of the aorta (CoA) after birth., Methods: We included all cases of suspected CoA during fetal echocardiography performed in the second and/or third trimester of pregnancy at Gaslini Children's Hospital between January 2010 and December 2020. The last prenatal ultrasound evaluation was reviewed considering most of the echocardiographic criteria were already published for prenatal CoA diagnosis. Associated minor cardiac anomalies, such as a ventricular septal defect, persistent left superior vena cava (PLSCV), and redundant foramen ovale (FO) membrane, as well as postnatal outcomes, were reported. Initial perinatal management was defined based on the risk stratification of CoA during prenatal echocardiography. Neonates were divided into two groups depending on the presence or absence of CoA after birth., Results: A total of 91 fetuses with CoA suspicion were selected, of which 27 (30%) were confirmed with CoA after birth and underwent surgical repair. All cardiac parameters except redundant FO membrane and PLSCV showed a significant correlation with CoA. Statistical analysis confirmed that cardiovascular disproportion with right predominance carries an increased risk for occurrence of CoA, especially if already evident during the ultrasound evaluation in the second trimester. Aortic valve (AV) z-score and distal transverse aortic arch (TAA) z-score resulted as the best predictors of CoA after birth. The best cutoff point for CoA discrimination with ROC analysis was an AV z-score of -1.25 and a distal TAA z-score of -0.37. A total of 46% of those without CoA were diagnosed with a cardiac defect, which was not diagnosed in utero, pulmonary hypertension, or a genetic syndrome., Conclusion: The current criteria for diagnosing CoA in utero allow accurate diagnosis of most severe cases but the rate of false positives remains relatively high for milder cases. A combination of anatomic and functional echocardiographic parameters might be used in stratifying the risk of CoA. We proposed the AV and the TAA diameter z-scores as the best predictors of CoA after birth. In addition, neonates without CoA deserve proper monitoring at birth because prenatal evidence of a significant cardiovascular discrepancy between the right and left cardiac structures has an inherent risk for additional morbidity postnatally., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Tuo, Paladini, Marasini, Buratti, De Tonetti, Calevo and Marasini.)
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- 2022
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33. Timely Recognition and Early Multi-Step Antinflammatory Therapy May Prevent ICU Admission of Patients With MIS-C: Proposal for a Severity Score.
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Brisca G, Consolaro A, Caorsi R, Pirlo D, Tuo G, Campanello C, Castagnola E, Moscatelli A, Gattorno M, and Ravelli A
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In this observational study, we report the clinical, therapeutics and outcome features of 23 patients with multisystem inflammatory syndrome (MIS-C) who have been treated in Gaslini Children Hospital (Genoa, Italy) with a multistep antinflammatory treatment protocol, based on disease severity at admission. Patients were initially assigned to four severity classes on admission and treated accordingly. The therapeutic options ranged from IV immunoglobulin alone to a combination of IVIG plus pulses of methylprednisolone plus anakinra for patients with marked cardiac function impairment or signs of macrophage activation syndrome, with rapid treatment escalation in case of inadequate therapeutic response. With the application of this therapeutic strategy, no patient required admission to Intensive Care Unit (ICU) or invasive mechanical ventilation, and no inotropic drugs administration was required. Early aggressive treatment of MIS-C, with therapeutic interventions modulated based on the severity of clinical manifestations may help to prevent the progression of the inflammatory process and to avoid the need of admission to the ICU. A timely intervention with anti-IL-1 blockers can play a pivotal role in very severe patients that are at risk to have an incomplete response to immunoglobulins and steroids., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Brisca, Consolaro, Caorsi, Pirlo, Tuo, Campanello, Castagnola, Moscatelli, Gattorno and Ravelli.)
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- 2021
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34. Delivery Room Intensive Care Unit: 5 Years' Experience in Assistance of High-Risk Newborns at a Referral Center.
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Buratti S, Lampugnani E, Faggiolo M, Buffoni I, Paladini D, De Tonetti G, Tuo G, Marasini M, Mattioli G, and Moscatelli A
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Objective: The aim of the study is to describe a delivery room intensive care unit (DRICU) model and evaluate its effectiveness in preventing morbidity and mortality in high-risk newborns. Design: This retrospective case series includes all DRICU procedures performed from 2016 to 2020. Setting: Gaslini Children's Hospital is a major pediatric tertiary care center where high-risk pregnancies are centralized. The Neonatal and Pediatric Intensive Care Unit admits every year about 100 high-risk newborns. Patients: The selected patients are newborns at risk of critical conditions immediately after birth for respiratory or cardiovascular congenital disorders. Interventions: The perinatal plan is defined by the multidisciplinary team of Fetal and Perinatal Medicine. The DRICU procedure provides highly specialized care through a protocol that includes logistics, personnel, equipment, and clinical pathways. Main Outcome Measures: The primary outcome is the prevention of acute complications and mortality in the delivery room and early neonatal period. Results: From 2016 to 2020, 40 DRICU procedures were performed. The main prenatal diagnoses included congenital heart disease with a high risk of life-threatening events immediately after birth (38%), congenital diaphragmatic hernia (35%), and fetal hydrops/hydrothorax (23%). Mean gestational age was 35.9 weeks (range: 31-39), and mean birth weight was 2,740 grams (range: 1,480-3,920). DRICU assistance completed in all patients by neonatal intensivists included tracheal intubation and arterial and central venous cannulation; complex procedures such as ex-utero intrapartum technique and extracorporeal membrane oxygenation cannulation are described. No deaths nor severe acute complications occurred in the delivery room or in the immediate postnatal period. Conclusions: The outcome in critical newborns is potentially affected by planned assistance strategies and specialized competencies through the implementation of a DRICU protocol., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Buratti, Lampugnani, Faggiolo, Buffoni, Paladini, De Tonetti, Tuo, Marasini, Mattioli and Moscatelli.)
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- 2021
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35. Acute Cardiovascular Manifestations in 286 Children With Multisystem Inflammatory Syndrome Associated With COVID-19 Infection in Europe.
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Valverde I, Singh Y, Sanchez-de-Toledo J, Theocharis P, Chikermane A, Di Filippo S, Kuciñska B, Mannarino S, Tamariz-Martel A, Gutierrez-Larraya F, Soda G, Vandekerckhove K, Gonzalez-Barlatay F, McMahon CJ, Marcora S, Napoleone CP, Duong P, Tuo G, Deri A, Nepali G, Ilina M, Ciliberti P, and Miller O
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- Adolescent, Antibodies, Viral blood, Biomarkers blood, C-Reactive Protein metabolism, Child, Child, Preschool, Europe epidemiology, Female, Ferritins blood, Fibrin Fibrinogen Degradation Products metabolism, Humans, Immunoglobulin G blood, Immunoglobulin M blood, Infant, Interleukin-6 blood, Male, Natriuretic Peptide, Brain blood, Pandemics, Peptide Fragments blood, Arrhythmias, Cardiac blood, Arrhythmias, Cardiac epidemiology, Arrhythmias, Cardiac etiology, Arrhythmias, Cardiac therapy, COVID-19 blood, COVID-19 complications, COVID-19 epidemiology, COVID-19 therapy, Pericardial Effusion blood, Pericardial Effusion epidemiology, Pericardial Effusion etiology, Pericardial Effusion therapy, SARS-CoV-2, Shock blood, Shock epidemiology, Shock etiology, Shock therapy, Systemic Inflammatory Response Syndrome blood, Systemic Inflammatory Response Syndrome complications, Systemic Inflammatory Response Syndrome epidemiology, Systemic Inflammatory Response Syndrome therapy
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Background: The aim of the study was to document cardiovascular clinical findings, cardiac imaging, and laboratory markers in children presenting with the novel multisystem inflammatory syndrome associated with coronavirus disease 2019 (COVID-19) infection., Methods: This real-time internet-based survey has been endorsed by the Association for European Paediatric and Congenital Cardiologists Working Groups for Cardiac Imaging and Cardiovascular Intensive Care. Children 0 to 18 years of age admitted to a hospital between February 1 and June 6, 2020, with a diagnosis of an inflammatory syndrome and acute cardiovascular complications were included., Results: A total of 286 children from 55 centers in 17 European countries were included. The median age was 8.4 years (interquartile range, 3.8-12.4 years) and 67% were boys. The most common cardiovascular complications were shock, cardiac arrhythmias, pericardial effusion, and coronary artery dilatation. Reduced left ventricular ejection fraction was present in over half of the patients, and a vast majority of children had raised cardiac troponin when checked. The biochemical markers of inflammation were raised in most patients on admission: elevated C-reactive protein, serum ferritin, procalcitonin, N-terminal pro B-type natriuretic peptide, interleukin-6 level, and D-dimers. There was a statistically significant correlation between degree of elevation in cardiac and biochemical parameters and the need for intensive care support ( P <0.05). Polymerase chain reaction for severe acute respiratory syndrome coronavirus 2 was positive in 33.6%, whereas immunoglobulin M and immunoglobulin G antibodies were positive in 15.7% cases and immunoglobulin G in 43.6% cases, respectively, when checked. One child in the study cohort died., Conclusions: Cardiac involvement is common in children with multisystem inflammatory syndrome associated with the Covid-19 pandemic. The majority of children have significantly raised levels of N-terminal pro B-type natriuretic peptide, ferritin, D-dimers, and cardiac troponin in addition to high C-reactive protein and procalcitonin levels. In comparison with adults with COVID-19, mortality in children with multisystem inflammatory syndrome associated with COVID-19 is uncommon despite multisystem involvement, very elevated inflammatory markers, and the need for intensive care support.
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- 2021
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36. Omentoplasty Decreases Leak Rate After Esophagectomy: a Meta-analysis.
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Tuo G, Jin G, Pang Y, Wang W, Zhu X, Zhang H, Yang Y, Wu P, and Zhu Z
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- Anastomosis, Surgical adverse effects, Anastomotic Leak epidemiology, Anastomotic Leak etiology, Anastomotic Leak prevention & control, Humans, Omentum surgery, Esophageal Neoplasms surgery, Esophagectomy adverse effects
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Objective: To compare the efficacy of omentoplasty with non-omentoplasty in the prevention of postoperative anastomotic leakage, and to investigate the safety of omentoplasty., Methods: Literature searches were performed of the Medline, EMBASE, and Cochrane Library databases. Studies that compared the efficacy of omentoplasty and non-omentoplasty after esophagectomy were selected. A meta-analysis was performed on anastomotic leakage, anastomotic stenosis, hospital mortality, and length of hospital stay. Results were reported as odds ratio (OR), weighted mean difference (WMD), or relative risk (RR), with 95% confidence intervals., Results: Six studies involving a total of 1608 patients met inclusion criteria. Compared with the non-omentoplasty group, the incidence of anastomotic leakage in the omentoplasty group (OR, 0.37; 95% CI, 0.23-0.60; P < 0.0001) was significantly reduced and the length of hospital stay (WMD, 2.13; 95% CI, 3.57-0.69; P = 0.004) was significantly shortened. However, there was no significant difference in the incidence of anastomotic strictures (OR, 0.82; 95% CI, 0.37-1.80; P = 0.61) or in-hospital mortality (OR, 0.61; 95% CI, 0.25-1.51; P = 0.29)., Conclusions: Omentoplasty after esophagectomy is a safe and effective method to prevent anastomotic leakage.
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- 2020
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37. Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
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Calcagni G, Gagliostro G, Limongelli G, Unolt M, De Luca E, Digilio MC, Baban A, Albanese SB, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Marasini M, Cairello F, Madrigali A, Pacileo G, Russo MG, Milanesi O, Formigari R, Brighenti M, Ragni L, Donti A, Drago F, Dallapiccola B, Tartaglia M, Marino B, and Versacci P
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- Adolescent, Adult, Child, Ectodermal Dysplasia, Failure to Thrive, Humans, Middle Aged, Noonan Syndrome, Retrospective Studies, Young Adult, ras Proteins, Heart Defects, Congenital
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Background: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies., Methods: A retrospective, multicentric observational study (CArdiac Rasopathy NETwork-CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected., Results: Forty-five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow-up was 20.1 years (range 6.9-47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019., Conclusions: Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended., (© 2020 Wiley Periodicals, Inc.)
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- 2020
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38. Comparative Efficacy and Safety of Nivolumab and Nivolumab Plus Ipilimumab in Advanced Cancer: A Systematic Review and Meta-Analysis.
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Yang Y, Jin G, Pang Y, Huang Y, Wang W, Zhang H, Tuo G, Wu P, Wang Z, and Zhu Z
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Background: Combination therapy with immune checkpoint inhibitors (ICIs) has been applied in the clinic to achieve synergistic effects and to improve clinical efficacy. Compared with monotherapy, combination therapy has promising efficacy against various advanced cancers. To further verify the effectiveness of combination therapy, we conducted a meta-analysis of the efficacy and safety of nivolumab (NIVO) and NIVO plus ipilimumab (IPI) in advanced cancer., Methods: Electronic databases (PubMed, EMbase, and The Cochrane Library) were systematically searched for applicable studies published in English between January 1990 and June 2019. Relevant outcomes included objective response rate (ORR), disease control rate (DCR), median progression-free survival (mPFS), median overall survival (mOS), and grade 3-4 adverse events (AEs)., Results: A total of 1,297 patients from six studies were included. Compared with NIVO alone, NIVO + IPI was more efficacious for advanced tumors. Pooled outcome values were: ORR, 1.73 (95% CI: 1.34-2.23); DCR, 1.80 (95% CI: 1.21-2.69); mPFS, 0.22 (95% CI: 0.03-0.41); mOS, 0.03 (95% CI: -0.20-0.26); and grade 3-4 AEs, 3.64 (95% CI: 2.86-4.62)., Conclusion: NIVO + IPI is more effective than NIVO alone for the treatment of advanced cancer and can significantly improve ORR and DCR and prolong mPFS. Due to the limited quality and quantity of the included studies, more high-quality studies are needed to validate the above conclusions., (Copyright © 2020 Yang, Jin, Pang, Huang, Wang, Zhang, Tuo, Wu, Wang and Zhu.)
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- 2020
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39. The diagnostic accuracy of artificial intelligence in thoracic diseases: A protocol for systematic review and meta-analysis.
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Yang Y, Jin G, Pang Y, Wang W, Zhang H, Tuo G, Wu P, Wang Z, and Zhu Z
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- Humans, Meta-Analysis as Topic, Systematic Reviews as Topic, Deep Learning standards, Thoracic Neoplasms diagnosis
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Introduction: Thoracic diseases include a variety of common human primary malignant tumors, among which lung cancer and esophageal cancer are among the top 10 in cancer incidence and mortality. Early diagnosis is an important part of cancer treatment, so artificial intelligence (AI) systems have been developed for the accurate and automated detection and diagnosis of thoracic tumors. However, the complicated AI structure and image processing made the diagnosis result of AI-based system unstable. The purpose of this study is to systematically review published evidence to explore the accuracy of AI systems in diagnosing thoracic cancers., Methods and Analysis: We will conduct a systematic review and meta-analysis of the diagnostic accuracy of AI systems for the prediction of thoracic diseases. The primary objective is to assess the diagnostic accuracy of thoracic cancers, including assessing potential biases and calculating combined estimates of sensitivity, specificity, and area under the receiver operating characteristic curve (AUC). The secondary objective is to evaluate the factors associated with different models, classifiers, and radiomics information. We will search databases such as PubMed/MEDLINE, Embase (via OVID), and the Cochrane Library. Two reviewers will independently screen titles and abstracts, perform full article reviews and extract study data. We will report study characteristics and assess methodological quality using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool. RevMan 5.3 and Meta-disc 1.4 software will be used for data synthesis. If pooling is appropriate, we will produce summary receiver operating characteristic (SROC) curves, summary operating points (pooled sensitivity and specificity), and 95% confidence intervals around the summary operating points. Methodological subgroup and sensitivity analyses will be performed to explore heterogeneity., Prospero Registration Number: CRD42019135247.
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- 2020
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40. Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
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Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, and Marino B
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A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.
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- 2017
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41. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
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Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, and Marino B
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- Adolescent, Adult, Cardiomyopathy, Hypertrophic genetics, Cardiomyopathy, Hypertrophic mortality, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Middle Aged, Morbidity, Mortality trends, Noonan Syndrome genetics, Noonan Syndrome mortality, Protein Tyrosine Phosphatase, Non-Receptor Type 11 genetics, Pulmonary Valve Stenosis genetics, Pulmonary Valve Stenosis mortality, Retrospective Studies, Young Adult, Heart Defects, Congenital genetics, Heart Defects, Congenital mortality, MAP Kinase Signaling System genetics, Mutation genetics, ras Proteins genetics
- Abstract
Background: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy., Methods: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis., Results: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death., Conclusions: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death., (Copyright © 2017 Elsevier B.V. All rights reserved.)
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- 2017
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42. Prenatal Echocardiographic Assessment of Foramen Ovale Appearance in Fetuses with D-Transposition of the Great Arteries and Impact on Neonatal Outcome.
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Tuo G, Paladini D, Montobbio G, Volpe P, Cheli M, Calevo MG, and Marasini M
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- Combined Modality Therapy adverse effects, Ductus Arteriosus diagnostic imaging, Ductus Arteriosus embryology, Echocardiography, Doppler, Color, Female, Foramen Ovale embryology, Hospitals, Pediatric, Humans, Hypoxia etiology, Hypoxia physiopathology, Hypoxia prevention & control, Italy epidemiology, Male, Pregnancy, Prognosis, Pulmonary Veins diagnostic imaging, Pulmonary Veins embryology, Retrospective Studies, Risk Factors, Severity of Illness Index, Transposition of Great Vessels embryology, Transposition of Great Vessels epidemiology, Transposition of Great Vessels therapy, Video Recording, Angioplasty, Balloon, Coronary adverse effects, Arterial Switch Operation adverse effects, Foramen Ovale diagnostic imaging, Postoperative Complications prevention & control, Transposition of Great Vessels diagnostic imaging, Ultrasonography, Prenatal
- Abstract
Introduction: Neonates with D-transposition of the great arteries (dTGA) may die at birth because of the inadequate intracardiac mixing due to a misdiagnosed restrictive foramen ovale. We reviewed our experience in echocardiographic assessment and perinatal management of fetuses with dTGA searching for new features that may predict the need for urgent balloon atrial septostomy (BAS) immediately after birth., Patients and Methods: We included fetuses diagnosed with dTGA between January 2000 and December 2014. We assessed pre- and postnatal appearance of the foramen ovale, ductus arteriosus and pulmonary veins. Both the diagnostic findings at the time of last prenatal echocardiogram and those findings deriving from a retrospective reevaluation of stored videos were considered. BAS was defined as urgent if performed in neonates with restrictive foramen ovale and severe hypoxemia., Results: We reviewed 40 fetuses with dTGA. 20/40 fetuses received urgent BAS at birth. Not only the restrictive but also the hypermobile and the redundant appearance of the foramen ovale was significantly associated with urgent BAS (p < 0.0001, p = 0.002 and p = 0.0001, respectively)., Conclusions: Prenatal evaluation of the foramen ovale appearance in fetuses with dTGA is still challenging. Based on our experience, also the redundant foramen ovale appearance may need urgent BAS at birth., (© 2016 S. Karger AG, Basel.)
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- 2017
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43. Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution.
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Tuo G, Pini Prato A, Derchi M, Mosconi M, Mattioli G, and Marasini M
- Abstract
Objective: To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung's disease (HSCR)., Method: All patients with a histological diagnosis of HSCR admitted to our hospital between January 2010 and December 2013 were included in this prospective observational study and underwent cardiovascular screening. Cardiac anatomy was assessed by a segmental echocardiographic approach. Measurements of aortic root and left ventricular dimensions, wall thickness, and function were obtained. CHDs requiring a percutaneous or surgical intervention were described as major heart diseases., Results: One hundred thirty-three consecutive patients were enrolled at median age of 2.3 years. Eleven patients (8.3%) presented an associated heart disease. Moreover, five patients had mild dilatation of aortic root. Six out of 11 (4.5%) patients had a major CHDs requiring surgical repair., Conclusion: Prevalence of associated CHDs was slightly higher than in previous papers, and mostly represented by septal defects. Four out of six patients with major heart disease had also a chromosomal anomaly. If we do not consider the subpopulation of patients with a chromosomal anomaly, cardiac defects were present in 3.8% of the patients. Based on these results, we suggest to perform routine echocardiogram in all Hirschsprung patients, with or without associated chromosomal syndromes.
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- 2014
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44. Assessment of the ductus arteriosus in fetuses with tetralogy of Fallot and the implication for postnatal management.
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Tuo G, Volpe P, Buffi D, De Robertis V, and Marasini M
- Subjects
- Abortion, Induced, Blalock-Taussig Procedure, Cyanosis etiology, Cyanosis therapy, Ductus Arteriosus, Patent complications, Ductus Arteriosus, Patent mortality, Ductus Arteriosus, Patent therapy, Female, Fetal Heart abnormalities, Fetal Heart physiopathology, Gestational Age, Hemodynamics, Humans, Infant, Infant Mortality, Infant, Newborn, Predictive Value of Tests, Pregnancy, Retrospective Studies, Tetralogy of Fallot complications, Tetralogy of Fallot mortality, Tetralogy of Fallot therapy, Treatment Outcome, Ventricular Outflow Obstruction diagnostic imaging, Ventricular Outflow Obstruction etiology, Abnormalities, Multiple, Ductus Arteriosus, Patent diagnostic imaging, Echocardiography, Doppler, Color, Echocardiography, Doppler, Pulsed, Fetal Heart diagnostic imaging, Tetralogy of Fallot diagnostic imaging, Ultrasonography, Prenatal methods
- Abstract
Objective: To describe the antenatal and neonatal echocardiographic morphology and flow pattern of the ductus arteriosus in patients with tetralogy of Fallot., Patients and Methods: We included patients with a prenatal diagnosis of tetralogy of Fallot between January 2006 and December 2012., Results: Among the 52 fetuses with tetralogy of Fallot the severity of right ventricular outflow obstruction was considered mild in 32, moderate in 14, and severe in 6. In the mild right ventricular outflow obstruction group (n = 32) all had normal ductal morphology and flow pattern, eight (25%) elected for termination of pregnancy and two died in the neonatal period from extracardiac causes. In the moderate right ventricular outflow obstruction group (n = 14) the fetuses had a small ductus arteriosus with antegrade but abnormal flow velocity, one (7%) elected for termination of pregnancy. Immediately after birth the ductus arteriosus was very small or already closed at echocardiographic examination. Two out of 13 patients (15%) developed severe hypoxic spells and underwent modified Blalock-Taussig shunt during the neonatal period. Six fetuses were considered to have severe right ventricular outflow obstruction with flow reversal in the ductus arteriosus, three (50%) of whom elected for termination of pregnancy. The other three newborns underwent modified Blalock-Taussig shunt., Conclusion: In fetuses with tetralogy of Fallot, ductal diameter can be reduced even up to prenatal closure. Prenatal ductal morphology assessment may be useful for improving management of patients with moderate right ventricular outflow obstruction and small ductus arteriosus who may become cyanotic at birth., (© 2013 Wiley Periodicals, Inc.)
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- 2014
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45. A prospective observational study of associated anomalies in Hirschsprung's disease.
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Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, Ceccherini I, Mavilio D, Jasonni V, Tuo G, Derchi M, Marasini M, Magnano G, Granata C, Ghiggeri G, Priolo E, Sposetti L, Porcu A, Buffa P, and Mattioli G
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Hirschsprung Disease pathology, Humans, Infant, Male, Phenotype, Prospective Studies, Young Adult, Hirschsprung Disease diagnosis
- Abstract
Background: Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm., Methods: After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features., Results: Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies., Conclusions: Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.
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- 2013
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46. Obstructive left heart disease in neonates with a "borderline" left ventricle: diagnostic challenges to choosing the best outcome.
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Tuo G, Khambadkone S, Tann O, Kostolny M, Derrick G, Tsang V, Sullivan I, and Marek J
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- Decision Making, Female, Follow-Up Studies, Heart Ventricles physiopathology, Heart Ventricles surgery, Humans, Hypoplastic Left Heart Syndrome physiopathology, Hypoplastic Left Heart Syndrome surgery, Infant, Newborn, Male, Prognosis, Prospective Studies, Cardiac Surgical Procedures, Echocardiography methods, Heart Ventricles diagnostic imaging, Hypoplastic Left Heart Syndrome diagnostic imaging, Ventricular Function, Left physiology
- Abstract
In most newborns with left heart obstruction, the choice between a single-ventricle or biventricular management pathway is clear. However, in some neonates with a "borderline" left ventricle, this decision is difficult. Existing criteria do not reliably identify neonates who will have a good long-term outlook after biventricular repair (BVR). The objective of this study was prospective assessment of the outcome after BVR for newborns in whom the left ventricle (LV) was considered "borderline" by an expert group. This study was a prospective follow-up evaluation of neonates with obstructive left heart disease related to a "borderline" LV who underwent biventricular management between January 2005 and April 2011. Of 154 neonates who required intervention for left heart obstruction, 13 (7.8 %) met the echocardiographic (echo) inclusion criteria. At the first and last echo, the z-scores were respectively -1.76 ± 1.37 and -0.66 ± 1.47 (p = 0.013) for the mitral valve, -1.02 ± 1.57 and -0.23 ± 1.78 (p = 0.056) for the aortic valve, and 13.77 ± 5.8 and 20.85 ± 8.9 ml/m(2) (p = 0.006) for the LV end-diastolic volume. At this writing, all 12 survivors are clinically well. However, LV diastolic dysfunction and pulmonary artery hypertension was present in 5 (36 %) of 12 patients. Endocardial fibroelastosis (EFE) was detected in five patients at the last follow-up echo, but only in two patients preoperatively. Cardiac magnetic resonance imaging did not confirm EFE in any of assessed patients. The study authors could not reliably predict the outcome after BVR for neonates with left heart obstruction and a "borderline" LV. The presence of EFE with consequent diastolic dysfunction is more important than LV volume in determining the outcome. Prospective identification of EFE remains challenging.
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- 2013
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47. Incidence and clinical relevance of primary congenital anomalies of the coronary arteries in children and adults.
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Tuo G, Marasini M, Brunelli C, Zannini L, and Balbi M
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- Adolescent, Cardiac Surgical Procedures, Child, Child, Preschool, Coronary Angiography, Coronary Vessel Anomalies diagnosis, Coronary Vessel Anomalies therapy, Echocardiography, Humans, Incidence, Infant, Infant, Newborn, Italy epidemiology, Middle Aged, Coronary Vessel Anomalies epidemiology
- Abstract
Objectives: To describe our experience in the management of coronary artery anomalies both in an adult and in a paediatric population and to compare the two groups for finding out differences in terms of angiographic incidence and treatment., Patients and Methods: Databases at the Department of Cardiology of San Martino Adult's Hospital and of Gaslini Children's Hospital were searched for all patients with a diagnosis of coronary artery anomaly who underwent coronary angiography between 1994 and 2006., Results: Coronary anomalies were diagnosed in 76 (1%) adult patients. Anomalous left circumflex artery was the commonest coronary anomaly (25%). Anomalous left coronary artery from pulmonary artery and myocardial bridges were the only anomalies responsible for angina-like symptoms. No patients except the one with anomalous left coronary artery from pulmonary artery needed surgical intervention. In the paediatric population, we found 28 (0.9%) patients with coronary anomalies. Anomalous left coronary artery from pulmonary artery was the most common anomaly (48%) and always required emergency surgical treatment; in addition there were two patients with stenosis of the left main coronary artery., Conclusion: Coronary artery anomalies may be associated with very acute, even life-threatening symptoms in children, whereas they are usually clinically silent and detected by accident on coronary angiography in adults. Recognition of coronary artery anomalies enables early treatment or close follow-up in children, whereas it could be useful in case of cardiac surgery in adults.
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- 2013
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48. Use of a telescopic system for transcatheter radiofrequency perforation and balloon valvotomy in infants with pulmonary atresia and intact ventricular septum.
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Bondanza S, Derchi M, Tuo G, Zannini L, and Marasini M
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- Balloon Valvuloplasty methods, Catheter Ablation methods, Fluoroscopy, Humans, Infant, Newborn, Operative Time, Retrospective Studies, Treatment Outcome, Balloon Valvuloplasty instrumentation, Cardiac Catheters, Catheter Ablation instrumentation, Heart Defects, Congenital surgery, Pulmonary Atresia surgery, Pulmonary Valve surgery
- Abstract
Background: Pulmonary atresia and intact ventricular septum is a complex congenital heart disease with great morphological variability. Approximately two-thirds of patients may be suitable for transcatheter pulmonary valvotomy. We reviewed our experience in the use of two different percutaneous approaches to evaluate the impact on fluoroscopy time and morbidity of a new technique to perform transcatheter radiofrequency perforation and valvotomy in newborns with pulmonary atresia and intact ventricular septum., Methods and Results: In all, 31 patients underwent radiofrequency perforation of the pulmonary valve. The first 14 infants were treated using a 5 French Judkins right coronary catheter, which was manoeuvred directly underneath the atretic pulmonary valve (Group A). The others were treated using a telescopic system consisting of Northstar Lumax Flex and White Lumax Guiding Catheters (Cook; Group B). In both groups, after radiofrequency perforation of the pulmonary valve, a 0.014-inch superfloppy guidewire was advanced into the descending aorta and balloon dilations were performed. Required fluoroscopy time was significantly lower in Group B (48.5 ± 28.1 versus 24.9 ± 14.4 minutes, respectively; p < 0.01). A higher incidence of unfavourable events including the need for early surgery was found in Group A., Conclusion: In our experience, telescopic catheter proved to be a valid option able to decrease the fluoroscopy time of percutaneous radiofrequency perforation of pulmonary valve and consequently patients’ exposure to procedure-related risks.
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- 2013
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49. Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum.
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Tuo G, Volpe P, Bondanza S, Volpe N, Serafino M, De Robertis V, Zannini L, Pongiglione G, Calevo MG, and Marasini M
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- Echocardiography methods, Female, Gestational Age, Humans, Infant, Newborn, Infant, Newborn, Diseases diagnostic imaging, Infant, Newborn, Diseases epidemiology, Italy epidemiology, Male, Pregnancy, Pregnancy Complications, Cardiovascular diagnostic imaging, Pregnancy Complications, Cardiovascular pathology, Pulmonary Atresia epidemiology, Pulmonary Atresia pathology, Retrospective Studies, Ventricular Septum pathology, Pregnancy Outcome epidemiology, Pulmonary Atresia diagnostic imaging, Ultrasonography, Prenatal methods, Ultrasonography, Prenatal statistics & numerical data
- Abstract
Objectives: To determine the impact of fetal echocardiography on the management of pregnancy and of newborns affected by pulmonary atresia and intact ventricular septum (PAIVS) and to evaluate the outcome of infants with and without prenatal diagnosis of PAIVS., Methods: We searched our database for cases of PAIVS prenatally and postnatally diagnosed during the period January 1993-December 2009. Postnatal follow-up was available in all cases included in the study. Karyotyping and fluorescent in situ hybridization analysis for the DiGeorge critical region (22q11.2) were performed in all but one case., Results: The study comprised 60 cases of PAIVS: 36 with (Group A) and 24 without (Group B) prenatal diagnosis. In Group A, there were two intrauterine deaths, six postnatal deaths (five early after birth) and one termination of pregnancy. In this group, radiofrequency (RF) perforation was successfully performed in 25 cases; 20/25 infants had a biventricular (BV) repair, without further operation in 13 of them. No patient of Group B died. In this group, RF perforation was successfully performed in 22 cases; 20/22 had a BV repair without further procedure in 15 of them., Conclusions: Prenatal diagnosis of PAIVS allows a reliable prognosis of severity and planning of proper surgical repair strategies. Fetuses that are prenatally diagnosed present a more severe spectrum of the disease; for the cases capable of getting through the neonatal period, the mortality rate and the need for further intervention were not significantly different when compared with babies with only postnatal diagnosis.
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- 2012
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50. Familial transposition of the great arteries caused by multiple mutations in laterality genes.
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De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, and Dallapiccola B
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- Female, Heterozygote, Humans, Male, Pedigree, Amino Acid Substitution genetics, Mutation genetics, Transposition of Great Vessels genetics
- Abstract
Background: The pathogenesis of transposition of the great arteries (TGA) is still largely unknown. In general, TGA is not associated with the more common genetic disorders nor with extracardiac anomalies, whereas it can be found in individuals with lateralisation defects, heterotaxy and asplenia syndrome (right isomerism)., Objective: To analyse genes previously associated with heterotaxy in order to assess mutations in familial TGA unassociated with other features of laterality defects., Methods: Probands of seven families with isolated TGA and a family history of concordant or discordant congenital heart disease were screened for mutations in the ZIC3, ACVR2B, LEFTYA, CFC1, NODAL, FOXH1, GDF1, CRELD1, GATA4 and NKX2.5 genes., Results: Mutation analysis allowed the identification of three sequence variations in two out of seven TGA probands. A FOXH1 (Pro21Ser) missense variant was found in a proband who was also heterozogous for an amino acid substitution (Gly17Cys) in the ZIC3 gene. This ZIC3 variant was also found in another family member with a second sequence variation (Val150Ile) in the NKX2.5 gene homeodomain who was affected by multiple ventricular septal defects. A second proband was found to harbour a splice site variant (IVS2-1G-->C) in the NODAL gene., Conclusions: The present study provides evidence that some cases of familial TGA are caused by mutations in laterality genes and therefore are part of the same disease spectrum of heterotaxy syndrome, and argues for an oligogenic or complex mode of inheritance in these pedigrees.
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- 2010
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