35 results match your criteria: "Cittadella Universitaria di Cagliari[Affiliation]"

Vascular density normative data of radial peripapillary capillary plexus in healthy Caucasian subjects.

Graefes Arch Clin Exp Ophthalmol

August 2024

Institute of Genetic and Biomedical Research, National Research Council, C/O S.S 554 Bivio Per Sestu Km 4, 500. Cittadella Universitaria Di Cagliari. Monserrato, 09042, Cagliari, Italy.

Purpose: To establish a normative database for vascular density (VD) of radial peripapillary capillary plexus (RPC) in healthy Caucasian subjects.

Methods: 633 healthy Caucasian subjects underwent a complete ophthalmological examination, including slit-lamp biomicroscopy, best corrected visual acuity measurement with Early Treatment Diabetic Retinopathy Study charts, intraocular pressure measurement, fundus examination, and macular and optic nerve head (ONH) structural optical coherence tomography (OCT). En-face 4.

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Accurate detection and analysis of somatic variants in cancer involve multiple third-party tools with complex dependencies and configurations, leading to laborious, error-prone, and time-consuming data conversions. This approach lacks accuracy, reproducibility, and portability, limiting clinical application. was developed to address these issues as an end-to-end pipeline for detecting, classifying, and interpreting cancer mutations.

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A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.

BMC Ophthalmol

July 2024

Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria Di Cagliari, C/O S.S 554 Bivio Per Sestu Km 4, 500, 09042, Monserrato, CA, Italy.

Article Synopsis
  • Usher syndrome (USH) is a genetic condition characterized by hearing loss and vision problems due to retinitis pigmentosa, with a study focusing on 3 families out of 6,148 participants in the SardiNIA project highlighting its clinical and genetic aspects.
  • The research involved comprehensive medical evaluations, including visual and auditory tests, and genetic testing to identify causal mutations in several candidate genes linked to USH.
  • A significant finding was a single variant in the USH2A gene found in all affected patients, indicating a potential common ancestry or "founder effect" in the Sardinian population, which has implications for understanding the genetic basis of USH.
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Purpose: To investigate the relationship between the macular values of fractal dimension (FD) and lacunarity (LAC) on optical coherence tomography angiography (OCTA) images and the presence of peripheral retina non-perfusion areas (NPAs) on fluorescein angiography (FA) in patients with treatment-naïve diabetic macular edema (DME).

Methods: Fifty patients with treatment-naïve DME underwent a full ophthalmic examination, including best-corrected visual acuity measurement, FA, spectral-domain optical coherence tomography, and OCTA. Specifically, FA was performed to detect the presence of retinal NPAs, whereas fractal OCTA analysis was used to determine macular FD and LAC values at the level of the superficial and deep capillary plexus (SCP and DCP).

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: The hemoglobin (Hb)/red cell distribution width (RDW) ratio has emerged as an accessible, repeatable, and inexpensive prognostic factor that may predict survival in cancer patients. The focus of this systematic review is to investigate the prognostic role of the Hb/RDW ratio in cancer and the implications for clinical practice. : A literature search of PubMed, Scopus, and Web of Science databases was performed by an independent author between 18 March and 30 March 2023 to collect relevant literature that assessed the prognostic value of the Hb/RDW ratio in cancer.

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Minimal Residual Disease (MRD) detection has emerged as an independent factor in clinical and pathological cancer assessment offering a highly effective method for predicting recurrence in colorectal cancer (CRC). The ongoing research initiatives such as the DYNAMIC and CIRCULATE-Japan studies, have revealed the potential of MRD detection based on circulating tumor DNA (ctDNA) to revolutionize management for CRC patients. MRD detection represents an opportunity for risk stratification, treatment guidance, and early relapse monitoring.

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HER2+ breast cancer (BC) is an aggressive subtype genetically and biologically heterogeneous. We evaluate the predictive and prognostic role of HER2 protein/gene expression levels combined with clinico-pathologic features in 154 HER2+ BCs patients who received trastuzumab-based neoadjuvant chemotherapy (NACT). The tumoral pathological complete response (pCR) rate was 40.

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Unlabelled: Diabetic macular edema (DME) is a common cause of vision impairment in diabetic retinopathy. The aim of this study was to analyze the relationship between visual outcome and anatomic changes detected by traditional multimodal retinal imaging and optical coherence tomography angiography (OCTA) in DME eyes under treatment with Aflibercept.

Methods: Sixty-six DME eyes of 62 patients under treatment with intravitreal Aflibercept and with one-year follow-up were enrolled.

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Polygenic risk score and biochemical/environmental variables predict a low-risk profile of age-related macular degeneration in Sardinia.

Graefes Arch Clin Exp Ophthalmol

March 2023

Institute of Genetic and Biomedical Research, National Research Council, Cittadella Universitaria Di Cagliari, c/o S.S 554 bivio per Sestu Km 4,500, 09042, Monserrato, Cagliari, Italy.

Purpose: To ascertain the prevalence and clinical and genetic features of age-related macular degeneration (AMD) in subjects living in the Lanusei valley, Central Sardinia, Italy, involved in a study on ageing (SardiNIA project).

Methods: A total of 814 volunteers aged ≥ 50 years, randomly selected from the SardiNIA project dataset, were included. A color fundus (CF) photograph of the 30° central retina of each eye was obtained and graded according to the Age-Related Eye Disease Study system.

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Purpose: Triple negative breast cancer (TNBC) is an aggressive clinical tumor, accounting for about 25% of breast cancer (BC) related deaths. Chemotherapy is the only therapeutic option to treat TNBC, hence a detailed understanding of the biology and its categorization is required. To investigate the clinical relevance of BCL11A in TNBC subtype, we focused on gene and protein expression and its mutational status in a large cohort of this molecular subtype.

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Unlabelled: Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an inherited enzymatic disorder causing hemolytic anemia. The purpose of this pilot study was to compare vascular density (VD) values of the radial peripapillary capillary (RPC) plexus in G6PD-deficient and G6PD-normal men, using optical coherence tomography angiography (OCTA).

Methods: 46 G6PD-deficient men and 23 age-matched male controls were included.

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Purpose: To compare quantitative optical coherence tomography angiography parameters between polypoidal choroidal neovascularizations (PCNVs) and Type 1 choroidal neovascularizations (CNVs) in patients with age-related macular degeneration.

Methods: PCNV and Type 1 CNV lesions were retrospectively recruited in a cohort of patients with age-related macular degeneration. All the patients underwent a comprehensive ophthalmic evaluation, including best-corrected visual acuity, fluorescein and indocyanine green angiography, structural optical coherence tomography (OCT), and optical coherence tomography angiography.

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Unlabelled: Central serous chorioretinopathy (CSCR) can be complicated by different types of choroidal neovascularization (CNV). The purpose of this study was to investigate the incidence and quantitative optical coherence tomography angiography (OCT-A) features of CSCR-related CNVs.

Methods: This was a retrospective multicenter study including 102 eyes of 102 Caucasian patients with acute or complex CSCR.

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Multiple bilateral retinal astrocytic hamartomas in Usher syndrome.

J Fr Ophtalmol

March 2022

Department of Medical, Surgical, and Experimental Sciences, Ophthalmology Unit, University of Sassari, Sassari, Italy.

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A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer.

Medicina (Kaunas)

November 2021

Department of Medical, Surgical and Experimental Sciences, University of Sassari, Via P. Manzella, 4, 07100 Sassari, Italy.

In the study of cancer, omics technologies are supporting the transition from traditional clinical approaches to precision medicine. Intra-tumoral heterogeneity (ITH) is detectable within a single tumor in which cancer cell subpopulations with different genome features coexist in a patient in different tumor areas or may evolve/differ over time. Colorectal carcinoma (CRC) is characterized by heterogeneous features involving genomic, epigenomic, and transcriptomic alterations.

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EGFR is overexpressed in the majority of clear cell renal cell carcinomas (CCRCCs). Although EGFR deregulation was found to be of great significance in CCRCC biology, the EGFR overexpression is not associated with EGFR-targeted therapy responsiveness. Moreover, the prognostic role of EGFR expression remains controversial.

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Colorectal cancer (CRC) is a leading cause of cancer death worldwide, and about 20% is metastatic at diagnosis and untreatable. Increasing evidence suggests that the heterogeneous nature of CRC is related to colorectal cancer stem cells (CCSCs), a small cells population with stemness behaviors and responsible for tumor progression, recurrence, and therapy resistance. Growing knowledge of stem cells (SCs) biology has rapidly improved uncovering the molecular mechanisms and possible crosstalk/feedback loops between signaling pathways that directly influence intestinal homeostasis and tumorigenesis.

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Development of new research, classification, and therapeutic options are urgently required due to the fact that TNBC is a heterogeneous malignancy. The expression of high molecular weight cytokeratins identifies a biologically and clinically distinct subgroup of TNBCs with a basal-like phenotype, representing about 75% of TNBCs, while the remaining 25% includes all other intrinsic subtypes. The triple negative phenotype in basal-like breast cancer (BLBC) makes it unresponsive to endocrine therapy, i.

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Aim: To describe optical coherence tomography angiography (OCTA) features of polypoidal choroidal neovascularisation (PCNV) secondary to age-related macular degeneration.

Methods: A retrospective consecutive series of 51 patients with a diagnosis of PCNV, based on clinical and multimodal imaging, was analysed. All patients with PCNV underwent a comprehensive ophthalmological examination, including fluorescein and indocyanine green angiography, structural optical coherence tomography (OCT) and OCTA.

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Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety, depression, obsessive-compulsive disorder and schizophrenia, are frequent in patients with dystonia. While mutations in a fast-growing number of genes have been linked to Mendelian forms of dystonia, the cellular, anatomical, and molecular basis remains unknown for most genetic forms of dystonia, as does its genetic and biological relationship to neuropsychiatric disorders.

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Detection of serum uric acid in primary open angle glaucoma: A pilot study.

Eur J Ophthalmol

July 2021

Department of Medical, Surgical, and Experimental Sciences, Ophthalmology Unit, University of Sassari, Sassari, Italy.

Purpose: To assess the association between the serum levels of uric acid (UA) and primary open-angle glaucoma (POAG).

Methods: In this pilot study, 46 eyes of 23 patients with a clinical history of POAG and 30 eyes of 15 healthy subjects were included. All patients underwent a complete ophthalmological examination, including best corrected visual acuity (BCVA), intraocular pressure (IOP), and gonioscopy.

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Purpose: To compare quantitative optical coherence tomography angiography parameters between treatment-naïve quiescent macular neovascularizations (MNVs) and previously treated nonexudative Type 1 MNVs, in patients with age-related macular degeneration.

Methods: The eyes included in the study were analyzed by fluorescein angiography, indocyanine green angiography, spectral-domain optical coherence tomography, and optical coherence tomography angiography. According to their medical history and multimodal imaging evaluation, Type 1 MNVs were divided into 2 groups: 1) treatment-naïve quiescent MNVs; 2) previously treated nonexudative Type 1 MNVs.

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We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression profiling on identification of molecular targets. We performed transcriptome on 16 primary coupled CRC and NTC tissues. We identified pathways and networks related to pathophysiology of CRC and selected potential therapeutic targets.

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MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers.

Int J Med Sci

March 2020

Department of Medical, Surgical and Experimental Sciences, University of Sassari, Viale San Pietro 8, 07100 Sassari, Italy.

Colorectal cancer (CRC) is a leading cause of cancer death worldwide and about 20% is metastatic at diagnosis and untreatable. The anti-EGFR therapy in metastatic patients is led by the presence of KRAS-mutations in tumor tissue. KRAS-wild-type CRC patients showed a positive response rate of about 70% to cetuximab or panitumumab combined with chemotherapy.

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