Michele Traversa

Cemiplimab in an Elderly Frail Population of Patients With Locally Advanced or Metastatic Cutaneous Squamous Cell Carcinoma: A Single-Center Real-Life Experience From Italy

Sabino Strippoli, Annarita Fanizzi, Davide Quaresmini, Annalisa Nardone et autres

BACKGROUND: Cutaneous squamous cell carcinoma (CSCC) is the second most common skin cancer whose incidence is growing parallel to the lengthening of the average lifespan. Cemiplimab, an antiPD-1 monoclonal antibody, is the first approved immunotherapy for patients with locally advanced CSCC (laCSCC) …

it (code pays fourni par la source)

The Management of Oligoprogression in the Landscape of New Therapies for Metastatic Melanoma

Michele Guida, Nicola Bartolomeo, Ivana De Risi, Livia Fucci et autres

Background: A limited degree of progression after a response to treatment is labelled as oligoprogression and is a hot topic of metastatic melanoma (MM) management. Rogue progressive metastases could benefit from local treatment, which could allow the continuation of ongoing systemic therapy, …

it, cn (code pays fourni par la source)

The evolving landscape in the management of gastric metastases from melanoma: a case series

Sabino Strippoli, Eustachio Ruggeri, Livia Fucci, Ruggero Filannino et autres

Background: The stomach is a very unusual site of metastasis from melanoma. Due to the few reports, we collected a case series in order to focus their endoscopic, clinical and biological features and to explore the therapeutic outcomes. Methods: We collected 9 …

it (code pays fourni par la source)

Impressive response and longterm survival in a patient with metastatic extraskeletal myxoid chondrosarcoma treated with radiotherapy and trabectedin: a synergistic activity

Ruggero Filannino, Annalisa Nardone, Livia Fucci, Andrea Armenio et autres

The extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant accounting for less than 3% of soft tissue tumors. EMC is considered an intermediate aggressive neoplasm with a slow-growing and indolent clinical course. Nevertheless, local recurrence is frequent and distant metastases arise in …

it (code pays fourni par la source)

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

Edoardo Giacopuzzi, Massimo Gennarelli, Alessandra Minelli, Rita Gardella et autres

Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along …

it (code pays fourni par la source)

Sorafenib induces variations of the DNA methylome in HA22T/VGH human hepatocellular carcinoma-derived cells

Edoardo Abeni, Alessandro Salvi, Eleonora Marchina, Michele Traversa et autres

Sorafenib is currently used to treat advanced and/or unresectable hepatocellular carcinoma (HCC), but the increase of the median survival was only 3 months. Moreover, sorafenib has severe side effects and patients develop resistance quickly. Epigenetic alterations such as DNA methylation play a …

it (code pays fourni par la source)

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

Rita Gardella, Emilio Sacchetti, Andrea Legati, Chiara Magri et autres

it (code pays fourni par la source)

The GRM7 gene, early response to risperidone, and schizophrenia: a genome-wide association study and a confirmatory pharmacogenetic analysis

Emilio Sacchetti, Chiara Magri, Alessandra Minelli, Paolo Valsecchi et autres

it (code pays fourni par la source)

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

Chiara Magri, Eleonora Marchina, Valeria Bertini, Michele Traversa et autres

BACKGROUND: In about one third of healthy subjects, the microscopic analysis of chromosomes reveals heteromorphisms with no clinical implications: for example changes in size of the short arm of acrocentric chromosomes. In patients with a pathological phenotype, however, a large acrocentric short …

it (code pays fourni par la source)

Long-term response of gemcitabine plus docetaxel chemotherapy regimen for extraskeletal osteosarcoma: A case report

Sabino Strippoli, Michele Traversa, Antonio Cramarossa, Ondina Popescu et autres

Extraskeletal osteosarcomas (EOSs) are rare variants of primary osteosarcoma of the bone, and are defined as sarcomas located in the soft tissues and characterized by osteoid production. EOS exhibits distinctive demographic, imaging and prognostic features compared with osteosarcoma of bone origin. The …

it (code pays fourni par la source)

Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni et autres

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni et autres

Mutations in B3GALT6 , encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) …

it (code pays fourni par la source)