Carlotta Ranieri
YOU?
Author Swipe
View article: Effect of preoperative liraglutide 3.0 mg on incidence of intraoperative adhesions in laparoscopic sleeve gastrectomy
Effect of preoperative liraglutide 3.0 mg on incidence of intraoperative adhesions in laparoscopic sleeve gastrectomy Open
Introduction Liraglutide has shown promising results in the field of bariatric surgery, preparing patients for surgery. However, chronic therapy is often correlated with gastrointestinal disorders, such as subclinical pancreatitis. The aim…
View article: Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) Open
View article: Lateralized overgrowth with vascular malformation caused by a somatic<i>PTPN11</i>pathogenic variant: Another piece added to the puzzle of mosaic<scp>RASopathies</scp>
Lateralized overgrowth with vascular malformation caused by a somatic<i>PTPN11</i>pathogenic variant: Another piece added to the puzzle of mosaic<span>RASopathies</span> Open
Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/…
View article: Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants Open
Background Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for …
View article: Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers Open
Background: Pathogenic variants in homologous recombination repair (HRR) genes other than BRCA1/2 have been associated with a high risk of ovarian cancer (OC). In current clinical practice, genetic testing is generally limited to BRCA1/2. …
View article: Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report Open
This case aims to raise awareness of the cardiological manifestations of laminopathies, which can be dangerously misdiagnosed as other, more common conditions.
View article: Author response for "Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum"
Author response for "Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum" Open
View article: Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome Open
View article: Author response for "A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth"
Author response for "A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth" Open
View article: The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein Open
Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate a…
View article: Author response for "Functional evidence of <scp>mTORβ</scp> splice variant involvement in the pathogenesis of congenital heart defects"
Author response for "Functional evidence of <span>mTORβ</span> splice variant involvement in the pathogenesis of congenital heart defects" Open
View article: Author response for "Functional evidence of <scp>mTORβ</scp> splice variant involvement in the pathogenesis of congenital heart defects"
Author response for "Functional evidence of <span>mTORβ</span> splice variant involvement in the pathogenesis of congenital heart defects" Open
View article: Clinical Experience with the AKT1 Inhibitor Miransertib in two Children with PIK3CA-related overgrowth syndrome
Clinical Experience with the AKT1 Inhibitor Miransertib in two Children with PIK3CA-related overgrowth syndrome Open
Background PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequen…
View article: Germline pathogenic variant in <i>PIK3CA</i> leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
Germline pathogenic variant in <i>PIK3CA</i> leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay Open
Background Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients…
View article: In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) Open