A M Bardelli

Publications (29)43.58 Total impact

• Article: A new use of corticosteroids in the combination therapy of a single orbital localization of Hand- Schuller-Christian disease

  R. Frezzotti, A. M. Bardelli, P. Tosi, G. Lasorella, L. Mazzera
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  ABSTRACT: A case of Hand-Schuller-Christian disease with a single orbital localization successfully treated with surgical curettage and radiotherapy plus local infiltrations of corticosteroids is reported. This form of combination therapy, not previously described, is recommended for such single lesions.
  07/2009; 1(4):251-258.
• Article: Coats disease: smaller volume of the affected globe.

  P Galluzzi, C Venturi, A Cerase, I M Vallone, S Bracco, A M Bardelli, T Hadjistilianou, P Gennari, L Monti, G Filosomi
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  ABSTRACT: To determine whether a significant smaller volume of the affected globe, compared with that of the normal globe, is an additional feature of Coats disease. Ocular globe volume was assessed in 13 children (11 boys, two girls; age range, 0.6-14 years; mean age, 4.1 years) with Coats disease and in 18 (eight boys, 10 girls; age range, 0.5-12 years; mean age, 3.6 years) with unilateral retinoblastoma. Orbital computed tomographic scans were available for all children; magnetic resonance images were available for 11 children-seven with Coats disease and four with retinoblastoma. For volume estimation, anteroposterior and equatorial diameters of ocular globes were measured. Statistical analysis was conducted with univariate and multivariate methods. In children with Coats disease, the mean volume of the affected globe was 4,877.03 mm(3) (range, 2,951.47-6,284.70 mm(3)) and that of the normal globe, 6,018.00 mm(3) (range, 4,062.32-7,509.26 mm(3)). In children with retinoblastoma, the mean volume of the affected globe was 4,557.06 mm(3) (range, 1,612.01-7,463.00 mm(3)) and that of the normal globe, 4,402.11 mm(3) (range, 1,360.46- 7,463.00 mm(3)). The Coats disease population had a significantly smaller volume of the affected globe (z = -3.1009; P =.002); the retinoblastoma population did not have a statistically significant trend toward a bigger affected globe volume (z = -1.7064; P =.088). The difference between the affected globe volume and the normal globe volume in children with Coats disease was the only significant independent variable (P =.005). A significantly smaller volume of the affected globe is an additional feature of Coats disease.
  Radiology 11/2001; 221(1):64-9. · 5.73 Impact Factor
• Article: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

  A Malandrini, F Mari, S Palmeri, S Gambelli, G Berti, M Bruttini, A M Bardelli, K Williamson, V van Heyningen, A Renieri
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  ABSTRACT: Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.
  Clinical Genetics 09/2001; 60(2):151-4. · 3.13 Impact Factor
• Article: Mitral valve prolapse in healthy relatives of patients with familial Pseudoxanthoma elasticum.

  P Rubegni, S Mondillo, G De Aloe, E Agricola, A M Bardelli, M Fimiani
  The American Journal of Cardiology 06/2000; 85(10):1268-71. · 3.37 Impact Factor
• Article: MRI of Wolfram syndrome (DIDMOAD).

  P Galluzzi, G Filosomi, I M Vallone, A M Bardelli, C Venturi
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  ABSTRACT: Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo.
  Neuroradiology 11/1999; 41(10):729-31. · 2.82 Impact Factor
• Article: Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

  C Battisti, M T Dotti, A Malandrini, F Pezzella, A M Bardelli, A Federico
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  ABSTRACT: Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in 1 case associated with mental retardation and mild cerebellar hypoplasia. Results of serum lipid analysis of all patients were normal. Ultrastructural study of a skin biopsy specimen and fibroblast pellet showed membrane-bound spherical vacuoles containing lipid material. Cultured fibroblasts stained by filipin, a fluorescent probe that specifically binds unesterified cholesterol, showed abnormal cytoplasmic fluorescent material, suggesting abnormal cholesterol metabolism. The presence of neurological impairment, associated with SCCD in 1 of our cases, may be regarded as coincidental. Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea and that skin biopsy may be a useful method to confirm the diagnosis.
  American Journal of Medical Genetics 02/1998; 75(1):35-9.
• Article: Eye involvement in sarcoidosis: survey of 197 patients.

  A M Bardelli, L Barberi, M Vanni, L Mazzera, C Traversi
  Sarcoidosis 10/1993; 10(2):158-9.
• Article: Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families.

  M T Dotti, A M Bardelli, N De Stefano, A Federico, A Malandrini, M Vanni, G C Guazzi
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  ABSTRACT: Marinesco-Sjögren syndrome (MSS) is a rare inherited disease with neurological and ocular manifestations. The latter include bilateral cataracts and, less frequently, nystagmus and strabismus. The authors report here three cases of MSS syndrome, all with optic atrophy, an additional ocular feature not hitherto described in this syndrome.
  Ophthalmic paediatrics and genetics 04/1993; 14(1):5-7.
• Article: Unusual optic nerve lesion in sarcoidosis.

  A M Bardelli, P Rottoli, G Panzardi, C Traversi, L Barberi, M Vagliasindi
  Sarcoidosis 04/1991; 8(1):72-4.
• Article: Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases.

  A M Bardelli, T Hadjistilianou
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  ABSTRACT: Two cases of buphthalmos and regional gigantism in peripheral neurofibromatosis (Von Recklinghausen disease) are described. The ocular hypertension was detected at birth and thereafter the facial hemihypertrophy, café-au-lait spots and neurofibromas. One case presented a progressive facial elephantiasis without buphthalmos. The evolution in neurofibromatous elephantiasis of these three cases is discussed.
  Ophthalmic paediatrics and genetics 01/1990; 10(4):279-86.
• Article: Congenital and developmental cataracts and multimalformation syndromes.

  A M Bardelli, G Lasorella, M Vanni
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  ABSTRACT: Cataracts are often found in association with many systemic disorders. Some are congenital in origin but in other cases they develop in early infancy or later in life. They are found in association with disorders, connective tissue disorders, neurological conditions, chromosomal abnormalities and dermatological disorders. Some of these syndromes have a genetic basis but often it is uncertain whether they are hereditary and often their cause is unknown.
  Ophthalmic paediatrics and genetics 01/1990; 10(4):293-8.
• Article: Retinoblastoma. Analysis of 75 cases and proposal for a new model of oncogenesis and tumor growth kinetics.

  D Mastrangelo, F Di Pisa, T Hadjistilianou, A M Bardelli, S Silvestri, R Frezzotti
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  ABSTRACT: A series of 75 retinoblastoma patients were analyzed at the Institute of Ophthalmology, Siena, and a mathematical model for the 'nodule to cancer' transformation applied to it. The authors obtained data in disagreement with Knudson's 'two hit' hypothesis but fitting an alternative model of oncogenesis. This model is based on probabilistic arguments and a possible pattern of tumor growth and evolution is given in detail.
  Ophthalmic paediatrics and genetics 10/1989; 10(3):161-71.
• Article: Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.

  A Federico, L Manneschi, M Meloni, C Alessandrini, A M Bardelli, M T Dotti, P Sabatelli
  Journal of Inherited Metabolic Disease 02/1988; 11 Suppl 2:193-7. · 3.58 Impact Factor
• Article: Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels.

  R Pallini, P Martelli, A M Bardelli, G C Guazzi, A Federico
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  ABSTRACT: The thiosulfate:cyanide sulfurtransferase (rhodanese) enzyme (EC 2.8.1.1.) was studied in human leukocytes from control subjects and from nine patients with Leber's hereditary optic atrophy. Enzyme activity was proportional to protein concentration in the tested range (0.09 to 0.39 mg) as well as to incubation time. The optimal pH for reaction was 8.7 and the apparent Km for thiosulfate was 7 X 10(-3) M. No significant difference of enzyme activity was present in Leber's disease.
  Neurology 01/1988; 37(12):1878-80. · 8.31 Impact Factor
• Article: Electrocardiographic abnormalities in Leber's hereditary optic atrophy

  A. Federico, P. Aitiani, B. Lomonaco, A. M. Bardelli, M. T. Dotti, R. Pallini, G. C. Guazzi
  Journal of Inherited Metabolic Disease 05/1987; 10:256-259. · 3.58 Impact Factor
• Article: Adult dementia in three siblings: ceroid-lipofuscinosis.

  P Annunziata, G Pero, L Ibba, A Federico, A M Bardelli, P Sabatelli, G C Guazzi
  Acta neurologica 11/1986; 8(5):528-34.
• Article: Gyrate atrophy of the choroid and retina: 3 cases in one Italian family

  A. Fois, P. Borgogni, M. Cioni, G. M. S. Mancini, M. Molinelli, M. Pizzetti, A. M. Bardelli, L. Biangini, L. Barberi, C. Malpassi, E. Harms, W. J. Kleijer
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  ABSTRACT: Our study reports the first comprehensive evaluation of HOGA in an Italian family, and is thus intended to alert Italian ophthalmologists and paediatricians to this potentially treatable condition in children with even apparently mild visual disturbances. The typical fundoscopic findings make diagnosis possible. Extensive epidemiological investigations could be justified to determine the incidence of this disorder in Italy.
  Journal of Inherited Metabolic Disease 05/1986; 9:272-274. · 3.58 Impact Factor
• Article: Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

  A. Fois, P. Borgogni, M. Cioni, M. Molinelli, R. Frezzotti, A. M. Bardelli, G. Lasorella, L. Barberi, P. Durand, M. Di Rocco, C. Romano, R. Parini, C. Corbetta, M. Giovannini, E. Riva, N. Balato, R. Sartorio, F. Mollica, E. Zammarchi, M. L. Battini
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  ABSTRACT: Type II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be correlated with the higher values of tyrosine. Enzyme studies have been refused in all patients. Treatment with a low tyrosine diet has been successful when accepted: since in many patients the diagnosis was made rather late, it is not possible to evaluate the results of the diet for the prevention of neuromotor retardation.
  Journal of Inherited Metabolic Disease 04/1986; 9:262-264. · 3.58 Impact Factor
• Article: Combined treatment modalities of orbital rhabdomyosarcoma in children.

  A Fois, A M Bardelli, R Frezzotti, A Acquaviva, C Bernardini, T Hadjistilianou
  European Journal of Pediatrics 03/1986; 144(5):514-5. · 1.88 Impact Factor
• Article: Etiology of congenital glaucoma. Genetic and extragenetic factors.

  A M Bardelli, T Hadjistilianou, R Frezzotti
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  ABSTRACT: Congenital glaucoma (simple, associated and secondary) has been studied for the frequency of mesodermal anomalies and malformations (skeletal changes, congenital heart diseases, neurological alterations). But congenital glaucoma is not due solely to genetic factors: it is more likely that most cases result from interaction between genetic predisposition and a combination of environmental causes.
  Ophthalmic paediatrics and genetics 09/1985; 6(1-2):265-70.