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4 results on '"Silvia Carinci"'

1. Neonatal diagnosis of Marcus Gunn jaw‐winking syndrome

Author

Daniela David, Valentina Chiavaroli, Modesto Lanci, Laura Sabatini, Silvia Greco, Silvia Carinci, Marianna Sebastiani, Eleonora Coclite, Francesco Chiarelli, and Susanna Di Valerio

Subjects
Marcus Gunn syndrome, newborn, ophthalmology, congenital ptosis, Medicine, Medicine (General), R5-920
Abstract

Abstract This report highlights the importance for neonatologists/pediatricians of considering Marcus Gunn jaw‐winking syndrome among differential diagnoses of ptosis. A detailed clinical assessment is crucial to promptly recognize and appropriately manage it.

Published
2021
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2. A case report of confusing meningoencephalocele

Author

Marika Perrotta, Giorgia Gasparroni, Valentina Chiavaroli, Luca Massimi, Rita Cognigni, Laura Sabatini, Teresa Topazio, Silvia Carinci, Marianna Sebastiani, Angelika Mohn, and Susanna Di Valerio

Subjects
encephaloceles, meningoencephalocele, newborn, scalp swelling, Medicine, Medicine (General), R5-920
Abstract

Abstract The clinical approach plays a pivotal role in neonates with evidence of a skull mass, together with the need of monitoring unclear cases. Indeed, apparently transient alterations of the skull may be neural tube defects, which need prompt treatment.

Published
2021
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3. A new de novo mutation in the GCK gene causing MODY2

Author

Paolo Staffolani, Luciano Massi, Paola Cipriano, Silvia Carinci, Serena Silvestri, Stefano Tumini, Alessia Cappelli, and Luigi Pianese

Subjects
Male, Genetics, Adolescent, business.industry, Glucokinase, Guanine, Endocrinology, Diabetes and Metabolism, De novo mutation, General Medicine, Molecular biology, Frameshift mutation, chemistry.chemical_compound, Exon, Endocrinology, Diabetes Mellitus, Type 2, chemistry, Genetic marker, Mutation, Mutation (genetic algorithm), Internal Medicine, Humans, Medicine, business, Gene
Abstract

Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers' study excluded false paternity indicating that c.382delG is a novel de novo mutation.

Published
2011
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4. Genital sanguineous discharge in prepuberty: a case of mullerian papilloma of vagina in a nine-year-old girl

Author

Stefano, Tumini, Silvia, Carinci, Maria Teresa, Anzellotti, Pier Luigi Lelli, Chiesa, Carlo, Rossi, Liborio, Stuppia, Silvano, Bertelloni, and Francesco, Chiarelli

Subjects
Treatment Outcome, Vaginal Neoplasms, Papilloma, Hysteroscopes, Humans, Female, Uterine Hemorrhage, Child, Mullerian Ducts
Abstract

Vaginal bleeding in prepuberty is an alarming symptom that must be carefully investigated. Among quite common causes of genital sanguineous discharge, there are rarer conditions responsible for bleeding at this age like Mullerian papilloma of the genital tract. In this report, we describe a case of Mullerian papilloma of the vagina in a 9-year-old girl. We believe in the importance of a correct clinical setting and histological definition to avoid wrong diagnosis and consequent inadequate treatments. Mullerian papilloma, a benign tumor, can in fact be treated only with local excision.

Published
2010

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