0000000000037976
AUTHOR
Tiziana Fragapane
showing 5 related works from this author
Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-u…
2014
The follow-up protocol, which we describe in this study can serve as a practical proposal for clinicians, and as a basis for future studies. We strongly urge the clinician to start an early surveillance of the gastrointestinal tract including regular endoscopy. The main management goals in PHTS patients are to detect colon cancer early, and to prevent polyp-related complications (bowel obstruction from intussusception). The presence of multiple nonmalignant polyps in patients with PTEN mutations may complicate noninvasive methods of colon evaluation [Tan et al., 2012]. In addition, there is a high variability in severity of polyps progression, and the malignant potential of these lesions is…
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
2020
Abstract Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower limbs) and substantial feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of…
[Metabolic syndrome in children and in adults: is it an autonomous nosological entity?].
2012
The term metabolic syndrome defines a cluster of risk factors for cardiovascular diseases and diabetes. This syndrome is very frequent in general population. However, despite the efforts to define the diagnostic criteria, nowadays its clinical utility is object of a lively debate.
Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…
2020
Background: Congenital heart defects (CHDs) are present in about 40&ndash
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol
2013
PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ-line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, end…