Prospective multicentre study of patients with cutaneous metastases from breast cancer treated with electrochemotherapy.

Electrochemotherapy (ECT) is a local treatment combining chemotherapy with electroporation. This prospective multicentre study aimed to evaluate the efficacy of ECT in the treatment of patients with skin metastases from breast cancer and confirm whether "luminal A-like" tumors are more responsive to treatment. One-hundred and ninety-five patients were included in the analysis.

Epigenetics in autoimmune diseases: Unraveling the hidden regulators of immune dysregulation.

Autoimmune diseases result from complex interactions between genetic and environmental factors. Recent advances in epigenetic research shed light on the intricate regulatory mechanisms that contribute to the development and progression of such conditions. The present review aims to explore the role of epigenetic modifications, including DNA methylation, histone modifications, and non-coding RNAs, in the context of autoimmune diseases.

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

Ulnar mammary syndrome (UMS) results from heterozygous variants in the TBX3 gene and impacts limb, tooth, hair, apocrine gland, and genitalia development. The expressivity of UMS is highly variable with no established genotype-phenotype correlations. TBX3 belongs to the Tbx gene family, which encodes transcription factors characterized by the presence of a T-box DNA-binding domain.

The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity.

Background: Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele frequency < 1%) in genes associated to drug adsorption, distribution, metabolism, and elimination are poorly studied. Previously, rare germline DPYD missense variants were shown to identify a subset of fluoropyrimidine-treated patients at high risk for severe toxicity. Here, we investigate the impact of rare genetic variants in a panel of 54 other fluoropyrimidine-related genes on the risk of severe toxicity.

Magnetic resonance imaging as a structural refinement to the American College of Rheumathology clinical classification criteria for knee osteoarthritis.

Objective: To evaluate if fulfilment of the definition of osteoarthritis (OA) based on the American College of Rheumatology (ACR) clinical criteria corresponds to pathological knee findings evaluated by magnetic resonance imaging (MRI). To evaluate if any such criteria is associated with a specific MRI pattern.

Methods: Forty-six consecutive patients aged 50 years or more referred by their general practitioners (GPs) to a radiology department because of non-traumatic knee pain underwent MRI using a dedicated low field (0.

Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.

Preemptive targeted pharmacogenetic testing of candidate variations in DPYD is currently being used to limit toxicity associated with fluoropyrimidines. The use of innovative next generation sequencing (NGS) approaches could unveil additional rare (minor allele frequency <1%) genetic risk variants. However, their predictive value and management in clinical practice are still controversial, at least partly due to the challenges associated with functional analyses of rare variants.

Depression and Anxiety Are Associated With Worse Subjective and Functional Baseline Scores in Patients With Frozen Shoulder Contracture Syndrome: A Systematic Review.

Purpose: To investigate whether psychological factors, such as avoidance behavior, fear, pain catastrophization, kinesiophobia, anxiety, depression, optimism, and expectation are associated with different subjective and functional baseline scores in patients with frozen shoulder contracture syndrome (FSCS).

Methods: Searches were conducted in MEDLINE, Cochrane Library (CENTRAL Database), PEDro, Pubpsych, and PsychNET.APA without restrictions applied to language, date, or status of publication.

Copy number alterations analysis of primary tumor tissue and circulating tumor cells from patients with early-stage triple negative breast cancer.

Triple negative breast cancer (TNBC) is characterized by clinical aggressiveness, lack of recognized target therapy, and a dismal patient prognosis. Several studies addressed genomic changes occurring during neoadjuvant chemotherapy (NAC) focusing on somatic variants, but without including copy number alterations (CNAs). We analyzed CNA profiles of 31 TNBC primary tumor samples before and after NAC and of 35 single circulating tumor cells (CTCs) collected prior, during and after treatment by using next-generation sequencing targeted profile and low-pass whole genome sequencing, respectively.

Prevalence and clinical course of SARS-CoV-2 infection in patients with Behçet's syndrome.

Objectives: We aimed to assess the prevalence of SARS-CoV-2 infection among Behçet's syndrome (BS) patients, evaluating the possible association between demographic and clinical features and the risk of infection. Moreover, we aimed to evaluate the possible association between BS disease activity and treatment, and the risk of SARS-CoV-2 infection.

Methods: A survey was conducted on BS patients followed at the Behçet's Centre of the Careggi University Hospital, Florence, Italy.

Detection of Genomically Aberrant Cells within Circulating Tumor Microemboli (CTMs) Isolated from Early-Stage Breast Cancer Patients.

Circulating tumor microemboli (CTMs) are clusters of cancer cells detached from solid tumors, whose study can reveal mechanisms underlying metastatization. As they frequently comprise unknown fractions of leukocytes, the analysis of copy number alterations (CNAs) is challenging. To address this, we titrated known numbers of leukocytes into cancer cells (MDA-MB-453 and MDA-MB-36, displaying high and low DNA content, respectively) generating tumor fractions from 0-100%.

Comparison of treatments for the prevention of fetal growth restriction in obstetric antiphospholipid syndrome: a systematic review and network meta-analysis.

Women with criteria and non-criteria obstetric antiphospholipid syndrome (APS) carry an increased risk of pregnancy complications, including fetal growth restriction (FGR). The management of obstetric APS traditionally involves clinicians, obstetricians and gynaecologists; however, the most appropriate prophylactic treatment strategy for FGR prevention in APS is still debated. We performed a systematic review and network meta-analysis (NetMA) to summarize current evidence on pharmacological treatments for the prevention of FGR in APS.

Cardiac involvement in eosinophilic granulomatosis with polyangiitis (formerly Churg-Strauss syndrome): Prospective evaluation at a tertiary referral centre.

Background: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis. Cardiac specific involvement (CSI) is caused by coronary artery vasculitis, but also by myocardial eosinophilic infiltration. To date, the prevalence of CSI associated with EGPA is unresolved.

A multicenter approach to evaluate omalizumab effectiveness in Samter's triad.

Omalizumab proved to be very effective in improving control of severe atopic asthma. Many small-sized studies suggested a potential role for omalizumab in the management of aspirin-exacerbated respiratory disease. The aim of this study is to describe the effectiveness of omalizumab in a multicentre group of patients with Samter's triad.

Intravenous immunoglobulin for the secondary prevention of stillbirth in obstetric antiphospholipid syndrome: A case series and systematic review of literature.

Objective: To evaluate the efficacy and safety of intravenous immunoglobulin (IVIg) in secondary prevention of pregnancy complications for patients with obstetric antiphospholipid syndrome (APS) and history of stillbirth.

Methods: We described three cases of obstetric APS patients with history of stillbirth treated with IVIg in four pregnancies. In addition, we conducted a systematic literature review on the use of IVIg in obstetric APS with history of stillbirth.

Percutaneous Coronary Intervention Techniques for Bifurcation Disease: Network Meta-analysis Reveals Superiority of Double-Kissing Crush.

Background: Provisional T-stenting (PS) is generally recommended to treat patients with coronary bifurcation disease (CBD) percutaneously, but PS may not fit all complex bifurcation anatomies. Therefore, several types of up-front 2-stent techniques have been described. We aimed to identify the best percutaneous coronary intervention (PCI) technique to manage patients with CBD.

The right place of interleukin-1 inhibitors in the treatment of Behçet's syndrome: a systematic review.

Behçet's syndrome (BS) is a chronic (auto)-inflammatory disorder characterized by different clusters of symptoms, including mucocutaneous and ocular involvements. Interleukin-1 inhibitors anakinra (ANA), canakinumab (CAN), and gevokizumab (GEV) represent a promising therapeutic alternative in BS. To date, evidence on the use of ANA, CAN, and GEV is mainly based on small isolated studies or case series, and the real place of anti-IL1 agents in the treatment of BS is still unclear.

Intraoperative ultrasound in robot-assisted partial nephrectomy: State of the art.

Introduction: Nephron-sparing surgery (NSS) is of one of the most studied fields in urology due to the balancing between renal function preservation and oncological safety of the procedure. Aim of this short review is to report the state of the art of intra-operative ultrasound as an operative tool to improve localization of small renal masses partially or completely endophytic during robotassisted partial nephrectomy (RAPN).

Material And Methods: We performed a literature review by electronic database on Pubmed about the use of intra-operative US in RAPN to evaluate the usefulness and the feasibility of this procedure.

A singular case of polyorchidism.

We report a case of polyorchidism, a rare congenital anomaly, frequently discovered by chance. At current knowledge is still not defined which is the best clinical and therapeutic approach as well the best follow- up scheme due to the unclear malignant potential and rate of complications if a conservative approach is used. MRI (Magnetic Resonance Imaging) seems to be a good method to discriminate this mass from others pathological findings but there is still not enough evidence to standardize the procedure.

Preoperative oral immunonutrition versus standard preoperative oral diet in well nourished patients undergoing pancreaticoduodenectomy.

Background: Pancreaticoduodenectomy is still associated to high morbility, especially due to pancreatic surgery related and infectious complications: many risk factors have already been advocated. Aim of this study is to evaluate the role of preoperative oral immunonutrition in well nourished patients scheduled for pancreaticoduodenectomy.

Methods: From February 2014 to June 2015, 54 well nourished patients undergoing pancreaticoduodenectomy were enrolled for 5 days preoperative oral immunonutrition.

Hospitalization for lower respiratory tract disease in preterm infants: effects of prophylaxis with palivizumab.

To evaluate the effect of palivizumab prophylaxis on hospitalization for acute respiratory tract infections (RTI) in preterm infants, a prospective study was performed on a cohort of preterm infants [gestational age (GA) <32 weeks], admitted at birth to a Neonatology Intensive Care Unit (NICU) (follow-up: 30-month after discharge). 154 palivizumab-recipients and 71 palivizumab-non-recipients were evaluated. During follow-up, a similar rate of hospitalization for RTI was found in the two groups (11.