Tissue- and liquid-biopsy based NGS profiling in advanced non-small-cell lung cancer in a real-world setting: the IMMINENT study.

Introduction: To date, for all non-small cell lung cancer (NSCLC) cases, it is recommended to test for driver alterations to identify actionable therapeutic targets. In this light, comprehensive genomic profiling (CGP) with next generation sequencing (NGS) has progressively gained increasing importance in clinical practice. Here, with the aim of assessing the distribution and the real-world frequency of gene alterations and their correlation with patient characteristics, we present the outcomes obtained using FoundationOne (F1CDx) and FoundationLiquid CDx (F1L/F1LCDx) NGS-based profiling in a nationwide initiative for advanced NSCLC patients.

New and Known Variants in a Series of Latin American Patients with Holoprosencephaly.

Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the , , , and genes explain ∼25% of the known causes of nonchromosomal HPE.

Management of patients with cancer during the COVID-19 pandemic: The Italian perspective on the second wave.

The novel coronavirus disease 2019 (COVID-19) pandemic has been an overwhelming challenge for worldwide health systems. Since the beginning of year 2020, COVID-19 has represented a potential harm for cancer patients and has often hindered oncology care. The Collegio Italiano dei Primari Oncologi Medici (CIPOMO) is an Italian association of head physicians in oncology departments, which promotes working and research activities in oncology on a national basis.

Second line trastuzumab emtansine following horizontal dual blockade in a real-life setting.

Despite relevant medical advancements, metastatic breast cancer remains an uncurable disease. HER2 signaling conditions tumor behavior and treatment strategies of HER2 expressing breast cancer. Cancer treatment guidelines uniformly identify dual blockade with pertuzumab and trastuzumab plus a taxane as best first line and trastuzumab emtansine as preferred second line choice.

A new case of radiation-induced breast angiosarcoma.

Introduction: Radiation-induced breast angiosarcoma is a severe but rare late complication in the breast-preserving management of breast cancer through surgery and radiotherapy. Often the initial diagnosis is complex given its relatively anodyne nature and the fact that it usually presents in the form of typically multifocal reddish-purple papular skin lesions.

Presentation Of The Case: We describe the clinical and pathologic findings of a 79-year-old woman, who developed a radiation-induced breast angiosarcoma after around 8 years.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states.

Sequential Treatment with Pazopanib and Everolimus in Metastatic Renal Cell Carcinoma.

In metastatic renal cell carcinoma, complete response to first-line antiangiogenic agents is rare and resistance to therapy often develops. Protocols for sequential treatment with angiogenesis and mTOR inhibitors are under evaluation to improve outcomes. In this observational, real-world study, patients received a first-line therapy with pazopanib until discontinuation for disease progression or toxicity, then a second-line with everolimus.

Adherence and safety of regorafenib for patients with metastatic colorectal cancer: observational real-life study.

Aim: In this prospective multicenter real-life observational cohort study, we investigated the acceptance, adherence and safety of regorafenib, in the treatment of metastatic colorectal cancer patients.

Patients & Methods: A total of 136 patients were recruited at six oncological hospital sites in southern Italy. The adherence to the treatment was measured with patient-completed medication diaries, physician interviews and pill counts.

Three-Dimensional Anthropometric Database of Attractive Caucasian Women: Standards and Comparisons.

The aim of this paper is to develop a database to determine a new biomorphometric standard of attractiveness. Sampling was carried out using noninvasive three-dimensional relief methods to measure the soft tissues of the face. These anthropometric measurements were analyzed to verify the existence of any canons with respect to shape, size, and measurement proportions which proved to be significant with regard to the aesthetics of the face.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome-wide association studies (GWAS) on NSCL/P have consistently identified association for the 1p22 region, in which ARHGAP29 has emerged as the main candidate gene. ARHGAP29 re-sequencing studies in NSCL/P patients have identified rare variants; however, their clinical impact is still unclear.

Candida glabrata among Candida spp. from environmental health practitioners of a Brazilian Hospital.

The incidence of the species Candida albicans and non-albicans Candida was evaluated in a Brazilian Tertiary Hospital from the environment and health practitioners. In a 12-month period we had a total positivity of 19.65% of Candida spp.

Everolimus as second-line therapy for metastatic renal cell carcinoma: a 'real-life' study.

Aims: This study, conducted in a 'field-practice' scenario, investigates the effectiveness and safety of everolimus in the second-line treatment of metastatic renal cell carcinoma (mRCC) patients.

Patients & Methods: mRCC patients, who started everolimus 10 mg/day after failure of first-line VEGF receptor-targeted tyrosine kinase inhibitor, were included in this study. Study end points were treatment response, progression-free survival and tolerability.

Molecular analysis of holoprosencephaly in South America.

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts.

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Background: Holoprosencephaly (HPE) is a spectrum of midline malformations of the prosencephalon generally reflected in a continuum of midline facial anomalies. Patients with mutation in the ZIC2 gene usually present a normal or mildly dysmorphic face associated with a severe brain malformation. Here we present a rare unilateral nasal cleft (Tessier cleft n.

Impact of anemia management with EPO on psychologic distress in cancer patients: results of a multicenter patient survey.

Aim: We investigated the role of erythropoietin (EPO) in reducing anemia and preventing the development of psychological distress in patients treated with chemotherapy.

Patients & Methods: This prospective observational study enrolled 591 adult patients receiving EPO at a dose of 30,000 IU administered once weekly for chemotherapy-induced anemia (mean baseline hemoglobin [Hb] level was 9.55 g/dl) over a 12-month period.

Three-dimensional methodology for photogrammetric acquisition of the soft tissues of the face: a new clinical-instrumental protocol.

Background: The objective of this study is to define an acquisition protocol that is clear, precise, repeatable, simple, fast and that is useful for analysis of the anthropometric characteristics of the soft tissue of the face.

Methods: The analysis was carried out according to a new clinical-instrumental protocol that comprises four distinct phases: (1) setup of portable equipment in the space in which field analysis will be performed, (2) preparation of the subject and spatial positioning, (3) scanning of the subject with different facial expressions, and (4) treatment and processing of data. The protocol was tested on a sample comprising 66 female subjects (64 Caucasian, 1 Ethiopian, and 1 Brazilian) who were the finalists of an Italian national beauty contest in 2010.

Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients.

Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and/or ARMS2 rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented to the central 18 degrees) and CFH/ARMS2 genotyping.

Influence of saffron supplementation on retinal flicker sensitivity in early age-related macular degeneration.

Purpose: To evaluate the functional effect of short-term supplementation of saffron, a spice containing the antioxidant carotenoids crocin and crocetin, in early age-related macular degeneration (AMD).

Methods: Twenty-five patients with AMD were randomly assigned to oral saffron 20 mg/d or placebo supplementation over a 3-month period and then reverted to placebo or saffron for a further 3 months. Focal electroretinograms (fERGs) and clinical findings were recorded at baseline and after 3 months of saffron or placebo supplementation.

Randomized controlled trial of probiotics for the prevention of spontaneous preterm delivery associated with intrauterine infection: study protocol.

Background: Spontaneous preterm deliveries that occur before the 34th week of gestation, and particularly before the 32nd week of gestation, have been strongly associated to intrauterine infection, ascending from vagina, and represent the largest portion of neonatal deaths and neurological problems. Bacterial vaginosis, characterized by a diminished or absent flora of lactobacilli and increased colonization of several anaerobic or facultative microorganisms, increases two times the risk of preterm delivery before the 34th week. Trials of antibiotics failed to show efficacy and effectiveness against spontaneous preterm birth related to bacterial vaginosis.

Sorafenib plus octreotide is an effective and safe treatment in advanced hepatocellular carcinoma: multicenter phase II So.LAR. study.

Purpose: Advanced hepatocellular carcinoma (HCC) not eligible for local therapies has limited chances of cure. Sorafenib is a multikinase inhibitor with proven activity in advanced HCC. Octreotide is used in this setting with conflicting results.

Association between mode of breast cancer detection and diagnosis delay.

We investigated the association between mode of breast cancer (Bca) detection and diagnosis delay in a case-series of primary, histologically confirmed Bca patients from Southern Italy. Nine hundred and fifty nine women diagnosed with incident, primary Bca were recruited in two southern Italian regions. We grouped the mode of detection into two categories: Self-Detection (S-D) and Mammography (MG).

Intravitreal bevacizumab (Avastin) in proliferative diabetic retinopathy.

Purpose: To evaluate the efficacy and safety of intravitreal bevacizumab in proliferative diabetic retinopathy (PDR) patients.

Methods: This interventional case series study included 15 eyes of 10 patients with bilateral PDR: 13 eyes with severe PDR and active new vessels (NV) and two eyes with recurrent vitreous haemorrhages. Study eyes received a single intravitreal injection of 1.

[The anthropomorphic proportions of the face: an evaluation of the response to orthodontic surgical treatment of Angle class III].

The purpose of this investigation was: to examine the anthropometric facial presurgical and postsurgical indices of patients having a dento-skeletal class III malocclusion and who were treated with the orthodontic-surgical procedure. To evaluate the postsurgical response of the soft tissues, according to the type of approach: mandibular surgery or maxillo-mandibular surgery. To recognize, if it is possible, what indices are to be considered more involved in the esthetic change.