39 results on '"Lodato, V."'
Search Results
2. Erratum to: Serum creatine kinase isoenzymes in children with osteogenesis imperfecta
- Author
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D’Eufemia, P., Finocchiaro, R., Zambrano, A., Lodato, V., Celli, L., Finocchiaro, S., Persiani, P., Turchetti, A., and Celli, M.
- Published
- 2017
- Full Text
- View/download PDF
3. Fracture resistance of endodontically-treated maxillary premolars restored with different type of posts and direct composite reconstructions: A systematic review and meta-analysis of in vitro studies
- Author
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Iaculli, F., Rengo, C., Lodato, V., Patini, Romeo, Spagnuolo, G., Rengo, S., Patini R. (ORCID:0000-0001-7358-8763), Iaculli, F., Rengo, C., Lodato, V., Patini, Romeo, Spagnuolo, G., Rengo, S., and Patini R. (ORCID:0000-0001-7358-8763)
- Abstract
Objective: To conduct a systematic review and meta-analysis to assess if the presence of an endodontic post may increase the fracture resistance of endodontically-treated maxillary premolars directly restored with composite. Methods: A comprehensive systematic literature search according to the PRISMA statement was conducted to assess in vitro studies including endodontically-treated maxillary premolars, restored with different type of posts supporting direct composite reconstructions. Two groups of meta-analyses were performed using fixed effects model and additional Trial Sequential Analysis (TSA) was carried out. Moreover, risk of bias was conducted and quality of evidence for any performed meta-analysis was assessed using Grading of Recommendations Assessment, Development and Evaluation (GRADE). Results: Twenty-four articles met the inclusion criteria and 13 studies also underwent quantitative evaluation. Fracture resistance of endodontically-treated premolars restored with fiber posts was significantly less than sound teeth (p value: < 0.00001), however endodontically-treated premolars with a fiber post provided an increase in fracture resistance when compared to equivalent teeth restored without post (p value: 0.003). TSA revealed high power of both meta-analyses. Moderate risk of bias was reported in 23/24 studies; only 1 study showed high risk of bias. GRADE system showed moderate strength of evidence due to the presence of a study with high risk of bias and to wide confidence intervals. Significance: Within the limitation of the present systematic review and meta-analysis, it can be concluded that endodontically-treated maxillary premolars restored with a fiber post and direct composite restoration demonstrated increased fracture resistance when compared to equivalent teeth without post.
- Published
- 2021
4. Erratum to: Serum creatine kinase isoenzymes in children with osteogenesis imperfecta
- Author
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D’Eufemia, P., primary, Finocchiaro, R., additional, Zambrano, A., additional, Lodato, V., additional, Celli, L., additional, Finocchiaro, S., additional, Persiani, P., additional, Turchetti, A., additional, and Celli, M., additional
- Published
- 2016
- Full Text
- View/download PDF
5. Serum creatine kinase isoenzymes in children with osteogenesis imperfecta
- Author
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D’Eufemia, P., primary, Finocchiaro, R., additional, Zambrano, A., additional, Lodato, V., additional, Celli, L., additional, Finocchiaro, S., additional, Persiani, P., additional, Turchetti, A., additional, and Celli, M., additional
- Published
- 2016
- Full Text
- View/download PDF
6. Chemical kinetics in a turbulent fluid
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LoDato, V. A.
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- 1976
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- View/download PDF
7. A theory for sedimentation in a turbulent fluid
- Author
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LoDato, V. A.
- Published
- 1976
- Full Text
- View/download PDF
8. Ebstein's anomaly in a child with osteogenesis imperfecta type I
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D'Eufemia, Patrizia, Celli, M, Versacci, P, Zambrano, Anna, Lodato, V, Persiani, Pietro, and Sangiorgi, L.
- Subjects
musculoskeletal diseases ,stomatognathic diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Clinical Cases - Abstract
Cardiovascular involvement is relatively rare in osteogenesis imperfecta and has a predilection for left-sided cardiac valves. We report a 5 years old female child affected by osteogenesis imperfecta type I in which an asymptomatic mild form of Ebstein’s anomaly, a congenital tricuspid malformation, was diagnosed during routinely investigation. The association of these two relatively rare entities could provide new insight to better understand the pathogenesis of cardiac involvement in osteogenesis imperfecta.
- Published
- 2012
9. Epilessia rolandica e malformazione di Arnold Chiari tipo I in due fratelli: link genetico?
- Author
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Ursitti, Fabiana, Papetti, Laura, Nicita, Francesco, Spalice, A, DEL BALZO, Francesca, Lodato, V, Properzi, Enrico, and Iannetti, P.
- Published
- 2010
10. Macrocephaly capillari malformation syndrome: descrizione di un caso clinico e criteri diagnostici
- Author
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Papetti, Laura, Nicita, Francesco, Ursitti, Fabiana, Tarani, Luigi, Mattiucci, C, Mancini, F, DEL BALZO, Francesca, Lodato, V, Properzi, Enrico, Spalice, A, and Iannetti, Paola
- Published
- 2010
11. Encefalite da EBV associata a infezione da CMV
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Ursitti, Fabiana, Papetti, Laura, Nicita, Francesco, Spalice, A, DEL BALZO, Francesca, Lodato, V, Properzi, Enrico, and Iannetti, Paola
- Published
- 2010
12. Vascular risk factors in glaucoma: The results of a national survey
- Author
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Orzalesi, N, Rossetti, L., Omboni, S., Sborgia, C., Vetrugno, M., Cantatore, F., Campos, E., Baldi, A., Quaranta, L., Serra, A., Zucca, I., Mura, M., Malocci, M., Uva, M., Longo, A., Lombardo, A., Scorcia, G., Moschettini, R., Gallenga, P. E., Mastropasqua, L, Ciancaglini, Marco, Carpineto, P., Lobefalo, L., Perri, P., Paduano, B., Alfieri, G., Menchini, U., Campana, F., Giansanti, F., Delle, Noci, Balducci, N., Calabria, F., Saccà, G., Sanna, S., Camicione, G., Mastromarino, P., Balestrazzi, A., DI STASO, Silvio, Ferreri, S., D’Andrea, G., Orzalesi, A., Rossetti, N., Fogagnolo, L., Mazzolani, P., Brancato, F., Carassa, R., Bettin, R., Fiori, P., Guerra, M., Martini, R., Scarale, E., Campi, G., Bonavolontà, L., Rinaldi, G., Meo, Di, Fusco, A., Dorigo, R., Doro, M. T., Grgic, D., Lodato, V., Morreale, Bubella, Signorelli, D., Gandolfi, F., Trimarchi, S., Milano, F., Fiore, G., Carolis, De, Sbordone, A., Nardi, G., Bartolomei, M., Figus, M. P., Guidi, M., Scullica, G., Salgarello, L., Colotto, T., Bucci, A., Cerulli, M. G., Manni, L., Centofanti, G. L., Parravano, M., Scuderi, M., Nucci, G., Carta, C., Pinna, F., Caporossi, A., Frezzotti, A., Grignolo, P., Brogliatti, F., Rolle, B., Ravalico, T., Vattovani, G., Tritto, O., Canziani, D., Marchini, T., Marraffa, G., ORZALESI N, ROSSETTI L, OMBONI S, LODATO G, and COMPROSO
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Male ,medicine.medical_specialty ,Intraocular pressure ,genetic structures ,Diastole ,Glaucoma ,Blood Pressure ,Risk factors ,Survey ,Aged ,Cardiovascular Diseases ,Family Health ,Female ,Glaucoma, Open-Angle ,Humans ,Intraocular Pressure ,Italy ,Risk Factors ,Surveys and Questionnaires ,Visual Fields ,Health Surveys ,Ophthalmology ,Sensory Systems ,Cellular and Molecular Neuroscience ,NO ,Settore MED/30 ,medicine ,Medical history ,Family history ,Settore MED/30 - Malattie Apparato Visivo ,business.industry ,Intraocular pressure, Glaucoma ,Odds ratio ,medicine.disease ,eye diseases ,Blood pressure ,Open-Angle ,Population study ,sense organs ,business - Abstract
Background The role of vascular risk factors in glaucoma is still being debated. To assess the importance of vascular risk factors in patients with primary open-angle glaucoma (POAG), data from the medical history of 2,879 POAG patients and 973 age-matched controls were collected and analyzed. Methods Design: observational survey. Setting: 35 Italian academic centers. Study population: POAG patients and age-matched controls. In order to reduce bias consecutive patients were included. Observation procedures: data concerning vascular risk factors were collected for all patients with a detailed questionnaire. A complete ophthalmological examination with assessment of intraocular pressure (IOP), visual field, optic disc, and systemic blood pressure was performed. Main outcome measures: the ESH-ESC (European Society of Hypertension-European Society of Cardiology) guidelines were used to calculate the level of cardiovascular risk. Crude and adjusted estimates of the odds ratios (OR) were calculated for all cardiovascular risk factors in POAG and controls. Results The study included 2,879 POAG patients and 973 controls. POAG cases had a significantly higher systolic and diastolic blood pressure (p=0.001) and systolic perfusion pressure (p=0.02) as compared with controls. Also mean IOP was significantly higher in the POAG group (p=0.01), while diastolic perfusion pressure was not significantly different in the two groups. Myopia was more prevalent in the POAG group (23 vs 18%, p=0.005) as well as a positive family history for glaucoma (26 vs 12%, p= 0.004). POAG patients tended to have a higher cardiovascular risk than controls: 63% of glaucoma cases vs 55% of controls (OR: 1.38, p=0.005) had a “high” or “very high” cardiovascular risk. Conclusions The level of cardiovascular risk was significantly higher in glaucoma patients than in controls.
- Published
- 2007
13. Serum creatine kinase isoenzymes in children with osteogenesis imperfecta.
- Author
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D'Eufemia, P., Finocchiaro, R., Zambrano, A., Lodato, V., Celli, L., Finocchiaro, S., Persiani, P., Turchetti, A., and Celli, M.
- Subjects
BONE metabolism ,BONE physiology ,OSTEOGENESIS imperfecta ,ALKALINE phosphatase ,ANALYSIS of variance ,BIOMARKERS ,BODY weight ,CELL physiology ,CREATINE kinase ,DIPHOSPHONATES ,ETHICS ,ISOENZYMES ,PARATHYROID hormone ,PEPTIDES ,PHOSPHORUS ,STATURE ,T-test (Statistics) ,VITAMIN D ,CONTROL groups ,TREATMENT duration ,DESCRIPTIVE statistics ,DIAGNOSIS ,THERAPEUTICS - Abstract
Summary: This study evaluates serum creatine kinase isoenzyme activity in children with osteogenesis imperfecta to determine its usefulness as a biochemical marker during treatment with bisphosphonate. The changes of creatine kinase (CK) isoenzyme activity during and after discontinuation therapy were observed. These results could be useful in addressing over-treatment risk prevention. Introduction: The brain isoenzyme of creatine kinase (CKbb) is highly expressed in mature osteoclasts during osteoclastogenesis, thus plays an important role in bone resorption. We previously identified high serum CKbb levels in 18 children with osteogenesis imperfect (OI) type 1 treated for 1 year with bisphosphonate (neridronate). In the present study, serum CK isoenzymes were evaluated in the same children with continuous versus discontinued neridronate treatment over a further 2-year follow-up period. Methods: This study included 18 children with OI type 1, 12 with continued (group A) and 6 with ceased (group B) neridronate treatment. Auxological data, serum biochemical markers of bone metabolism, bone mineral density z-score, and serum total CK and isoenzyme activities were determined in both groups. Results: Serum CKbb was progressively and significantly increased in group A ( p < 0.004) but rapidly decreased to undetectable levels in group B. In both groups, the cardiac muscle creatine kinase isoenzyme (CKmb) showed a marked decrease, while serum C-terminal telopeptide (CTx) levels were almost unchanged. Conclusions: This study provides evidence of the cumulative effect of neridronate administration in increasing serum CKbb levels and the reversible effect after its discontinuation. This approach could be employed for verifying the usefulness of serum CKbb as a biochemical marker in patients receiving prolonged bisphosphonate treatment. Moreover, the decreased serum CKmb levels suggest a systemic effect of these drugs. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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14. The Permutation of a Certain Class of Matrices.
- Author
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LoDato, V. A.
- Published
- 1970
15. Erratum to: Serum creatine kinase isoenzymes in children with osteogenesis imperfecta.
- Author
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D'Eufemia, P., Finocchiaro, R., Zambrano, A., Lodato, V., Celli, L., Finocchiaro, S., Persiani, P., Turchetti, A., and Celli, M.
- Subjects
OSTEOPOROSIS - Abstract
A correction to the article "Serum creatine kinase isoenzymes in children with osteogenesis imperfecta" is presented.
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- 2017
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16. The minimisation of distance in placement algorithms.
- Author
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LoDato, V. A.
- Published
- 1971
17. THE MASTER EQUATION FOR THE DISSOCIATION OF A DILUTE DIATOMIC GAS. I. A METHOD OF SOLUTION
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YORK UNIV TORONTO (ONTARIO) CENTRE FOR RESEARCH IN EXPERIMENTAL SPACE SCIENCE, LoDato,V. A., McElwain,D. L. S., Pritchard,H. O., YORK UNIV TORONTO (ONTARIO) CENTRE FOR RESEARCH IN EXPERIMENTAL SPACE SCIENCE, LoDato,V. A., McElwain,D. L. S., and Pritchard,H. O.
- Abstract
The master equation representing the dissociation-recombination kinetics of a dilute diatomic gas can be reduced to a system of inhomogeneous nonlinear Volterra integral equations of the second kind. Accurate solutions of these equations can be obtained using the self-consistent matrix iteration procedure proposed by Rush and Pritchard, under certain relatively unrestrictive conditions. (Author), See also AD-701 852.
- Published
- 1969
18. Ebstein's anomaly in a child with osteogenesis imperfecta type I
- Author
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D Eufemia, P., Mauro CELLI, Versacci, P., Zambrano, A., Lodato, V., Persiani, P., and Sangiorgi, L.
19. Child abuse and osteogenesis imperfecta: How can they be still misdiagnosed? A case report
- Author
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D Eufemia, P., Palombaro, M., Lodato, V., Zambrano, A., Mauro CELLI, Persiani, P., Bari, M. P., and Sangiorgi, L.
- Subjects
Case Report - Abstract
Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in genes coding for type I collagen, resulting in bone fragility. In literature are described forms lethal in perinatal period, forms which are moderate and slight forms where the only sign of disease is osteopenia. Child abuse is an important social and medical problem. Fractures are the second most common presentation after skin lesions and may present specific patterns.
20. The Master Equation for the Dissociation of a Dilute Diatomic Gas. I. A Method of Solution
- Author
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LoDato, V. A., primary, McElwain, D. L. S., additional, and Pritchard, H. O., additional
- Published
- 1969
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21. Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
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Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco, Leone M.P., Morlino S., Nardella G., Pracella R., Giachino D., Celli L., Baldo D., Turolla L., Piccione M., Salzano E., Busè M., Lastella P., Zollino M., Cantone R., Grosso E., Zonta A., Pasini B., Piscopo C., De Maggio I., Priolo M., Mammi C., Foiadelli T., Trabatti C., Savasta S., Iolascon A., Ferraris A., Lodato V., Di Giosaffatte N., Majore S., Selicorni A., Petracca A., Fusco C., Celli M., Guarnieri V., Micale L., and Castori M.
- Subjects
ACMG/AMP criteria, variants in collagen genes, joint hypermobility ,Genetics ,ACMG/AMP criteria ,collagen genes ,hereditary connective tissue disorders (HCTD) ,Settore MED/03 - GENETICA MEDICA ,hereditary connective tissue disorders (HCTD), ACMG/AMP criteria, collagen genes ,Genetics (clinical) - Abstract
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as pathogenic and likely pathogenic null alleles without downgrading of the PVS1 level of strength and recurrent Glycine substitutions. Adaptations of selected criteria reduced uncertainties on private Glycine substitutions, intronic variants predicted to affect the splicing, and null alleles with a downgraded PVS1 level of strength. Segregation and multigene panel sequencing data mitigated uncertainties on non-Glycine substitutions by the attribution of one or more benignity criteria. These specifications may improve the clinical utility of molecular testing in HCTD by reducing the number of variants with neutral/conflicting interpretations. Close interactions between laboratory and clinicians are crucial to estimate the a priori utility of molecular test and to improve medical reports.
- Published
- 2023
22. Fracture Strength and Failure Modes of Endodontically Treated Premolars Restored with Compact and Hollow Composite Posts Subjected to Cyclic Fatigue
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Vito Gallicchio, Vincenzo Lodato, Roberto De Santis, Sandro Rengo, Gallicchio, V., Lodato, V., De Santis, R., and Rengo, S.
- Subjects
Technology ,Microscopy ,QC120-168.85 ,Bending ,Fracture strength ,QH201-278.5 ,Particulate composite ,Engineering (General). Civil engineering (General) ,TK1-9971 ,Endodontic post ,Descriptive and experimental mechanics ,fiber reinforced composite ,particulate composite ,endodontic post ,fatigue ,bending ,fracture strength ,General Materials Science ,Electrical engineering. Electronics. Nuclear engineering ,TA1-2040 ,Fiber reinforced composite ,Fatigue - Abstract
Physical and mechanical properties of continuous carbon or glass fiber reinforced endodontic posts are relevant to increase the retention and resistance of the tooth-restoration system. Hollow posts have been recently designed for delivering the luting cement through the post hole, thus enhancing the post-dentin interface by reducing the risk of air bubbles formation. Methods: Three type of endodontic posts, a carbon fiber hollow post, a glass fiber hollow post and a compact glass fiber post were investigated. Mechanical properties of these posts were assessed through bending tests. Teeth were subjected to fatigue cycling and the strength of restored teeth was detected through static tests. Failure modes were investigated through optical and scanning electron microscopy. Results show that composite posts increase the mechanical stability by more than 100% compared to premolars restored with particulate composite. Carbon fiber posts retain the highest strength (1467 N ± 304 N) among the investigated post and core restoration, but an unfavorable type of fracture has been observed, preventing the tooth re-treatment. Instead, more compliant posts (i.e., glass fiber reinforced composite, providing a strength of 1336 N ± 221 N), show a favorable mode of fracture that allows the re-treatment of teeth in the case that failure occurs. Glass fiber hollow posts show a good trade-off between strength and a favorable type of fracture.
- Published
- 2022
23. Cuspal deflection and temperature rise of mod cavities restored through the bulk-fill and incremental layering techniques using flowable and packable bulk-fill composites
- Author
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Francesco Riccitiello, Vito Gallicchio, Roberto De Santis, Vincenzo Lodato, Sandro Rengo, Carlo Rengo, Davide Prisco, De Santis, R., Lodato, V., Gallicchio, V., Prisco, D., Riccitiello, F., Rengo, S., and Rengo, C.
- Subjects
Materials science ,Dental material ,Composite number ,Modulus ,02 engineering and technology ,mechanical properties ,lcsh:Technology ,Article ,03 medical and health sciences ,0302 clinical medicine ,Thermocouple ,Deflection (engineering) ,Flowable Composite ,dental materials ,General Materials Science ,Composite material ,lcsh:Microscopy ,bulk-fill composite ,Shrinkage ,lcsh:QC120-168.85 ,lcsh:QH201-278.5 ,lcsh:T ,030206 dentistry ,cuspal deflection ,021001 nanoscience & nanotechnology ,lcsh:TA1-2040 ,lcsh:Descriptive and experimental mechanics ,temperature rise ,lcsh:Electrical engineering. Electronics. Nuclear engineering ,Cuspal deflection ,Layering ,0210 nano-technology ,lcsh:Engineering (General). Civil engineering (General) ,lcsh:TK1-9971 ,Mechanical propertie ,composite material shrinkage - Abstract
Background: The aim of this study was to investigate cuspal deflection caused by material shrinkage and temperature rise occurring in the pulp chamber during photopolymerization. The aim of this study was also to investigate the effect of flowable and packable bulk-fill composites on cuspal deflection occurring in mesio-occlusal&ndash, distal (MOD) cavities restored through the bulk-fill or through the incremental layering technique. Additionally, mechanical and thermal properties of bulk-fill composites were considered. Methods: Two bulk-fill composites (high-viscosity and low-viscosity), largely differing in material composition, were used. These composites were characterized through linear shrinkage and compressive test. Cuspal deformation during restoration of mesio-occlusal&ndash, distal cavities of human premolars was evaluated using both the bulk-fill and the incremental layering techniques. Temperature rise was measured through thermocouples placed 1 mm below the cavity floor. Results: Shrinkage of the flowable composite was significantly higher (p <, 0.05) than that of packable composite, while mechanical properties were significantly lower (p <, 0.05). For cusp distance variation, no significant difference was observed in cavities restored through both restorative techniques, while temperature rise values spanned from 8.2 °, C to 11.9 °, C. Conclusions: No significant difference in cusp deflection between the two composites was observed according to both the restorative techniques. This result can be ascribed to the Young&rsquo, s modulus suggesting that the packable composite is stiffer, while the flowable composite is more compliant, thus balancing the cusp distance variation. The light curing modality of 1000 mW/cm2 for 20 s can be considered thermally safe for the pulp chamber.
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- 2020
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24. Renormalized projection operator technique for nonlinear stochastic equations. III
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LoDato, V
- Published
- 1975
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25. Fetal Rhabdomyoma of the Larynx in an Adult.
- Author
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Fusconi M, Zaccarelli F, Casini B, Gallo E, Covello R, Lodato V, Riminucci M, and Corsi A
- Abstract
Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2024
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26. The Language of Pain in the Hypermobile Ehlers-Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.
- Author
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Camerota F, Mariani R, Cordiano G, Di Trani M, Lodato V, Ferraris A, Pasquini M, and Celletti C
- Abstract
Ehlers-Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers-Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers-Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail. Eighty-nine patients with hEDS diagnoses were recruited and evaluated. They were asked to describe their pain in writing. The texts were examined through Linguistic Inquiry and Word Count. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and the quality of metaphors was carried out. The results showed that language quality varies depending on how much pain is perceived. The greater the pain is perceived, the lesser the positive effects and the greater the negative effects and dehumanizing metaphors are being used. Moreover, a greater pain seems to be related to a verbal experience of greater isolation and less self-care. In conclusion, the use of metaphors is a useful tool for examining illness experience and may help clinicians in the rehabilitation program.
- Published
- 2023
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27. Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
- Author
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Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, and Grammatico P
- Subjects
- Humans, Mutation, Extracellular Matrix genetics, Phenotype, Homozygote, Carboxypeptidases genetics, Repressor Proteins genetics, Ehlers-Danlos Syndrome pathology
- Abstract
In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1 pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of AEBP1 in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP in TGF-β and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2.
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- 2022
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28. Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
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Baban A, Alesi V, Magliozzi M, Parlapiano G, Genovese S, Cicenia M, Loddo S, Lodato V, Di Chiara L, Fattori F, D'Amico A, Francalanci P, Amodeo A, Novelli A, and Drago F
- Abstract
Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile activity, signaling, cellular adhesion, and repair. FLNC variants are associated with different disorders ranging from striated muscle (myofibrillar distal or proximal) myopathy to cardiomyopathies (CMPs) (restrictive, hypertrophic, and dilated), or both. The outcome depends on functional consequences of the detected variants, which result either in FLNC haploinsufficiency or in an aberrant protein, the latter affecting sarcomere structure leading to protein aggregates. Cardiac manifestations of filaminopathies are most often described as adult onset CMPs and limited reports are available in children or on other cardiac spectrums (congenital heart defects-CHDs, or arrhythmias). Here we report on 13 variants in 14 children (2.8%) out of 500 pediatric patients with early-onset different cardiac features ranging from CMP to arrhythmias and CHDs. In one patient, we identified a deletion encompassing FLNC detected by microarray, which was overlooked by next generation sequencing. We established a potential genotype-phenotype correlation of the p.Ala1186Val variant in severe and early-onset restrictive cardiomyopathy (RCM) associated with a limb-girdle defect (two new patients in addition to the five reported in the literature). Moreover, in three patients (21%), we identified a relatively frequent finding of long QT syndrome (LQTS) associated with RCM (n = 2) and a hypertrabeculated left ventricle (n = 1). RCM and LQTS in children might represent a specific red flag for FLNC variants. Further studies are warranted in pediatric cohorts to delineate potential expanding phenotypes related to FLNC .
- Published
- 2022
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29. Fracture Strength and Failure Modes of Endodontically Treated Premolars Restored with Compact and Hollow Composite Posts Subjected to Cyclic Fatigue.
- Author
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Gallicchio V, Lodato V, De Santis R, and Rengo S
- Abstract
Physical and mechanical properties of continuous carbon or glass fiber reinforced endodontic posts are relevant to increase the retention and resistance of the tooth-restoration system. Hollow posts have been recently designed for delivering the luting cement through the post hole, thus enhancing the post-dentin interface by reducing the risk of air bubbles formation. Methods: Three type of endodontic posts, a carbon fiber hollow post, a glass fiber hollow post and a compact glass fiber post were investigated. Mechanical properties of these posts were assessed through bending tests. Teeth were subjected to fatigue cycling and the strength of restored teeth was detected through static tests. Failure modes were investigated through optical and scanning electron microscopy. Results show that composite posts increase the mechanical stability by more than 100% compared to premolars restored with particulate composite. Carbon fiber posts retain the highest strength (1467 N ± 304 N) among the investigated post and core restoration, but an unfavorable type of fracture has been observed, preventing the tooth re-treatment. Instead, more compliant posts (i.e., glass fiber reinforced composite, providing a strength of 1336 N ± 221 N), show a favorable mode of fracture that allows the re-treatment of teeth in the case that failure occurs. Glass fiber hollow posts show a good trade-off between strength and a favorable type of fracture.
- Published
- 2022
- Full Text
- View/download PDF
30. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?
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Lodato V, Parlapiano G, Calì F, Silvetti MS, Adorisio R, Armando M, El Hachem M, Romanzo A, Dionisi-Vici C, Digilio MC, Novelli A, Drago F, Raponi M, and Baban A
- Abstract
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors play a major role in the difficulties of establishing standard diagnostic and therapeutic protocols. Isolated CMP in children is a frequent finding, mainly caused by sarcomeric gene variants with a detection rate that can reach up to 50% of analyzed cohorts. Complex multisystemic forms of pediatric CMP are even more heterogenous. Few studies in literature take into consideration this topic as the main core since it represents a rarity (systemic CMP) within a rarity (pediatric population CMP). Identifying etiology in this cohort is essential for understanding prognosis, risk stratification, eligibility to heart transplantation and/or mechanical-assisted procedures, preventing multiorgan complications, and relatives' recurrence risk calculation. The previous points represent a cornerstone in patients' empowerment and personalized medical care approach. The aim of this work is to propose a new approach for an algorithm in the setting of the diagnostic framework of systemic pediatric CMP. On the other hand, during the literature review, we noticed a relatively common etiologic pattern in some forms of complex/multisystem CMP. In other words, certain syndromes such as Danon, Vici, Alström, Barth, and Myhre syndrome share a common pathway of directly or indirectly defective "autophagy" process, which appears to be a possible initiating/triggering factor for CMPs. This conjoint aspect could be important for possible prognostic/therapeutic implications in this category of patients. However, multicentric studies detailed functional and experimental models are needed prior to deriving conclusions.
- Published
- 2022
- Full Text
- View/download PDF
31. Genetics in Congenital Heart Diseases: Unraveling the Link Between Cardiac Morphogenesis, Heart Muscle Disease, and Electrical Disorders.
- Author
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Baban A, Lodato V, Parlapiano G, and Drago F
- Subjects
- GATA4 Transcription Factor, Humans, Morphogenesis genetics, Myocardium, Cardiomyopathies, Heart Defects, Congenital genetics
- Abstract
The genetic background of congenital heart diseases (CHDs) is extremely complex, heterogenous, and still majorly to be determined. CHDs can be sporadic or familial. In this article we discuss in detail the phenotypic spectrum of selected genes including MYH7, GATA4, NKX2-5, TBX5, and TBX20. Our goal is to offer the clinician a general overview of the clinical spectrum of the analyzed topics that are traditionally known as causative for CHDs but we underline in this review the possible progressive functional (cardiomyopathy) and electric aspects (arrhythmias) caused by the genetic background., Competing Interests: Financial conflicts of interest and funding The authors declare no conflict of interest, and funding was not obtained for producing the article., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
32. 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.
- Author
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Lodato V, Orlando V, Alesi V, Di Tommaso S, Bengala M, Parlapiano G, Agnolucci E, Cicenia M, Calì F, Digilio MC, Drago F, Novelli A, and Baban A
- Abstract
Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literature describe the potential progressive nature of aortic dilatation (root and ascending aorta) in 1p36 deletion syndrome. SKI harboured in the deleted region might play a predisposing factor for this aspect., Methods: we reviewed the aortic aspect both in the literature and in our cohort, where major attention to the aortic abnormalities was given through dedicated echocardiographic measurements even in previously screened individuals., Results: aortic involvement in 1p36 deletion syndrome was described in the literature three times within the CHD context. We observed three additional patients from our cohort (three out of nine patients) with aortic dilatation. All patients with dilated aorta had SKI haploinsufficiency within the deleted region., Conclusions: at long-term outcome and with a growing population of this rare disease, this association (1p36 deletion and aortic dilatation) might represent a major concern especially in terms of risk stratification and the potential need for specific management (conservative pharmacologic and eventually surgical) whenever indicated. The present study suggests the need for detailed multicentric studies and indication to periodic echocardiographic screening in addition to baseline tests, especially in individuals with deletions harbouring SKI .
- Published
- 2021
- Full Text
- View/download PDF
33. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
- Author
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Baban A, Lodato V, Parlapiano G, di Mambro C, Adorisio R, Bertini ES, Dionisi-Vici C, Drago F, and Martinelli D
- Subjects
- Humans, Child, Cardiomyopathies genetics, Myotonic Dystrophy genetics, Friedreich Ataxia genetics, Friedreich Ataxia diagnosis, Friedreich Ataxia complications, Kearns-Sayre Syndrome genetics, Kearns-Sayre Syndrome diagnosis, Kearns-Sayre Syndrome complications, Arrhythmias, Cardiac genetics, Neuromuscular Diseases genetics
- Abstract
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), valvulopathies, atrioventricular conduction defects (AVCD), supraventricular tachycardia (SVT) and ventricular arrhythmias (VA). In this review, we selected and described five specific NMDs: Friedreich's Ataxia (FRDA), congenital and childhood forms of Myotonic Dystrophy type 1 (DM1), Kearns Sayre Syndrome (KSS), Ryanodine receptor type 1-related myopathies ( RYR1 -RM) and Laminopathies. These changes are widely investigated in adults but less researched in children. We focused on these specific topics due their relative frequency and their potential unexpected cardiac manifestations in children. Moreover these conditions present different inheritance patterns and mechanisms of action. We decided not to discuss Duchenne and Becker muscular dystrophies due to extensive work regarding the cardiac aspects in children. For each described NMD, we focused on the possible cardiac manifestations such as different types of CMPs (dilated-DCM, hypertrophic-HCM, restrictive-RCM or left ventricular non compaction-LVNC), structural heart abnormalities (including valvulopathies), and progressive heart rhythm changes (AVCD, SVT, VA). We describe the current management strategies for these conditions. We underline the importance, especially for children, of a serial multidisciplinary personalized approach and the need for periodic surveillance by a dedicated heart team. This is largely due to the fact that in children, the diagnosis of certain NMDs might be overlooked and the cardiac aspect can provide signs of their presence even prior to overt neurological diagnosis.
- Published
- 2021
- Full Text
- View/download PDF
34. Fracture resistance of endodontically-treated maxillary premolars restored with different type of posts and direct composite reconstructions: A systematic review and meta-analysis of in vitro studies.
- Author
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Iaculli F, Rengo C, Lodato V, Patini R, Spagnuolo G, and Rengo S
- Subjects
- Bicuspid, Composite Resins, Dental Stress Analysis, Humans, Post and Core Technique, Tooth Fractures, Tooth, Nonvital
- Abstract
Objective: To conduct a systematic review and meta-analysis to assess if the presence of an endodontic post may increase the fracture resistance of endodontically-treated maxillary premolars directly restored with composite., Methods: A comprehensive systematic literature search according to the PRISMA statement was conducted to assess in vitro studies including endodontically-treated maxillary premolars, restored with different type of posts supporting direct composite reconstructions. Two groups of meta-analyses were performed using fixed effects model and additional Trial Sequential Analysis (TSA) was carried out. Moreover, risk of bias was conducted and quality of evidence for any performed meta-analysis was assessed using Grading of Recommendations Assessment, Development and Evaluation (GRADE)., Results: Twenty-four articles met the inclusion criteria and 13 studies also underwent quantitative evaluation. Fracture resistance of endodontically-treated premolars restored with fiber posts was significantly less than sound teeth (p value: < 0.00001), however endodontically-treated premolars with a fiber post provided an increase in fracture resistance when compared to equivalent teeth restored without post (p value: 0.003). TSA revealed high power of both meta-analyses. Moderate risk of bias was reported in 23/24 studies; only 1 study showed high risk of bias. GRADE system showed moderate strength of evidence due to the presence of a study with high risk of bias and to wide confidence intervals., Significance: Within the limitation of the present systematic review and meta-analysis, it can be concluded that endodontically-treated maxillary premolars restored with a fiber post and direct composite restoration demonstrated increased fracture resistance when compared to equivalent teeth without post., (Copyright © 2021 The Academy of Dental Materials. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
35. Cuspal Deflection and Temperature Rise of MOD Cavities Restored through the Bulk-Fill and Incremental Layering Techniques Using Flowable and Packable Bulk-Fill Composites.
- Author
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Santis R, Lodato V, Gallicchio V, Prisco D, Riccitiello F, Rengo S, and Rengo C
- Abstract
Background : The aim of this study was to investigate cuspal deflection caused by material shrinkage and temperature rise occurring in the pulp chamber during photopolymerization. The aim of this study was also to investigate the effect of flowable and packable bulk-fill composites on cuspal deflection occurring in mesio-occlusal-distal (MOD) cavities restored through the bulk-fill or through the incremental layering technique. Additionally, mechanical and thermal properties of bulk-fill composites were considered. Methods : Two bulk-fill composites (high-viscosity and low-viscosity), largely differing in material composition, were used. These composites were characterized through linear shrinkage and compressive test. Cuspal deformation during restoration of mesio-occlusal-distal cavities of human premolars was evaluated using both the bulk-fill and the incremental layering techniques. Temperature rise was measured through thermocouples placed 1 mm below the cavity floor. Results : Shrinkage of the flowable composite was significantly higher ( p < 0.05) than that of packable composite, while mechanical properties were significantly lower ( p < 0.05). For cusp distance variation, no significant difference was observed in cavities restored through both restorative techniques, while temperature rise values spanned from 8.2 °C to 11.9 °C. Conclusions : No significant difference in cusp deflection between the two composites was observed according to both the restorative techniques. This result can be ascribed to the Young's modulus suggesting that the packable composite is stiffer, while the flowable composite is more compliant, thus balancing the cusp distance variation. The light curing modality of 1000 mW/cm
2 for 20 s can be considered thermally safe for the pulp chamber.- Published
- 2020
- Full Text
- View/download PDF
36. Scoliosis secondary to ganglioneuroma: a case report and up to date literature review.
- Author
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D'Eufemia P, Properzi E, Palombaro M, Lodato V, Mellino L, Tetti M, Martini L, and Persiani P
- Subjects
- Algorithms, Child, Decision Trees, Diagnostic Errors, Female, Ganglioneuroma diagnosis, Ganglioneuroma surgery, Humans, Mediastinal Neoplasms diagnosis, Mediastinal Neoplasms surgery, Scoliosis diagnosis, Ganglioneuroma complications, Mediastinal Neoplasms complications, Scoliosis etiology
- Abstract
Idiopathic scoliosis is the most common form of spinal deformity in children. However, secondary causes of scoliosis, such as ganglioneuroma, should be always considered to avoid wrong diagnosis, and further investigations are required when there are atypical signs. We report a case of ganglioneuroma misdiagnosed as idiopathic scoliosis and review the literature to identify the red flags useful for physicians during the evaluation of a child with scoliosis. On the basis of both clinical and radiographic criteria that emerged from this study, we propose an algorithm that could help in the differential diagnosis, suggesting when to perform an MRI.
- Published
- 2014
- Full Text
- View/download PDF
37. Serum brain-type creatine kinase increases in children with osteogenesis imperfecta during neridronate treatment.
- Author
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D'Eufemia P, Finocchiaro R, Villani C, Zambrano A, Lodato V, Palombaro M, Properzi E, and Celli M
- Subjects
- Bone Resorption, Child, Child, Preschool, Densitometry, Female, Humans, Infusions, Intravenous, Male, Osteoclasts metabolism, Risk, Creatine Kinase, BB Form blood, Diphosphonates therapeutic use, Gene Expression Regulation, Enzymologic drug effects, Osteogenesis Imperfecta blood, Osteogenesis Imperfecta drug therapy
- Abstract
Background: Creatine kinase (Ck) catalyzes the reversible transfer of high-energy phosphate groups between adenosine triphosphate and phosphocreatine. The brain isoform (Ckbb) is greatly induced in mature osteoclasts, playing an important role in bone-resorbing function during osteoclastogenesis. High Ckbb serum level has been found in patients with osteopetrosis and in patients with bisphosphonate (BP)-induced osteopetrosis. BPs are considered the treatment of choice for children with osteogenesis imperfecta (OI), acting as potent inhibitors of bone resorption by suppressing the activity of osteoclasts., Methods: We determined total serum Ck and isoform activity in 18 prepubertal children with type I OI, before and during treatment with the BP neridronate infusions., Results: Basal serum Ckbb levels were slightly elevated with respect to controls (mean ± SD = 3.0 ± 2.7 vs. 2.0 ± 2.2) and progressively increased after neridronate treatment (t0 vs. t4: mean ± SD = 3.0 ± 2.7 to 10.8 ± 8.1), with significant increment after first, second, and fourth infusions (P < 0.01). An inverse correlation was found between serum Ckbb and serum CTx at basal level., Conclusion: Our results support previous observations that increased serum Ckbb reflects failure of osteoclasts or, at least, suppression of osteoclasts. Upon considering that BPs are long acting, this information could be useful to prevent the risk of overtreatment after long-term BP exposure in pediatric patients with OI.
- Published
- 2014
- Full Text
- View/download PDF
38. Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report.
- Author
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D'Eufemia P, Palombaro M, Lodato V, Zambrano A, Celli M, Persiani P, De Bari MP, and Sangiorgi L
- Abstract
Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in genes coding for type I collagen, resulting in bone fragility. In literature are described forms lethal in perinatal period, forms which are moderate and slight forms where the only sign of disease is osteopenia. Child abuse is an important social and medical problem. Fractures are the second most common presentation after skin lesions and may present specific patterns.The differential diagnosis between slight-moderate forms of OI and child abuse could be very challenging especially when other signs typical of abuse are absent, since both could present with multiple fractures without reasonable explanations. We report a 20 months-old female with a history of 4 fractures occurred between the age of three and eighteen months, brought to authorities' attention as a suspected child abuse.However when she came to our department physical examination, biochemical tests, total body X-ray and a molecular analysis of DNA led the diagnosis of OI.Thus, a treatment with bisphosphonate and a physical rehabilitation process, according to Vojta method, were started with improvement in bony mineralization, gross motor skills and absence of new fracture.In conclusion our case demonstrates how in any child presenting fractures efforts should be made to consider, besides child abuse, all the other hypothesis even the rarest as OI.
- Published
- 2012
39. Ebstein's anomaly in a child with osteogenesis imperfecta type I.
- Author
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D'Eufemia P, Celli M, Versacci P, Zambrano A, Lodato V, Persiani P, and Sangiorgi L
- Abstract
Cardiovascular involvement is relatively rare in osteogenesis imperfecta and has a predilection for left-sided cardiac valves. We report a 5 years old female child affected by osteogenesis imperfecta type I in which an asymptomatic mild form of Ebstein's anomaly, a congenital tricuspid malformation, was diagnosed during routinely investigation. The association of these two relatively rare entities could provide new insight to better understand the pathogenesis of cardiac involvement in osteogenesis imperfecta.
- Published
- 2011
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