Altered keratinization and vitamin D metabolism may be key pathogenetic pathways in syndromic hidradenitis suppurativa: a novel whole exome sequencing approach

Background: Diagnosis of pyoderma gangrenosum, acne and hidradenitis suppurativa (PASH) and pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) patients, in spite of recently identified genetic variations, is just clinical, since most patients do not share the same mutations, and the mutations themselves are not informative of the biological pathways commonly disrupted in these patients. Objective: To reveal genetic changes more closely related to PASH and PAPASH etiopathogenesis, identifying novel common pathways involved in these diseases. Methods: Cohort study on PASH (n = 4) and PAPASH (n = 1) patients conducted using whole exome sequencing (WES) approach and a novel bioinformatic pipeline aimed at discovering potentially candidate genes selected from density mutations and involved in pathways relevant to the disease. Results: WES results showed that patients presented 90 genes carrying mutations with deleterious and/or damage impact: 12 genes were in common among the 5 patients and bared 237 ns ExonVar (54 and 183 in homozygosis and heterozygosis, respectively). In the pathway enrichment analysis, only 10 genes were included, allowing us to retrieve 4 pathways shared by all patients: (1) Vitamin D metabolism, (2) keratinization, (3) formation of the cornified envelope and (4) steroid metabolism. Interestingly, all patients had vitamin D levels lower than normal, with a mean value of 10 ng/mL. Conclusion: Our findings, through a novel strategy for analysing the genetic background of syndromic HS patients, suggested that vitamin D metabolism dysfunctions seem to be crucial in PASH and PAPASH pathogenesis. Based on low vitamin D serum levels, its supplementation is envisaged

Cyclodimerization of stilbenes and styrenes catalyzed by heteropolyacid supported on silica

Several stilbenes and styrenes have been treated with heteropolyacid] (HPA) supported over silice. The compounds obtained were characterized by 1H and 13C-NMR and the yields were compared with those obtained using H2SO4 (c) and ethyl poliphosphate (PPE).Facultad de Ciencias Exacta

Differences between cardiogenic shock related to acute decompensated heart failure and acute myocardial infarction

The present analysis from the multicentre prospective Altshock-2 registry aims to better define clinical features, in-hospital course, and management of cardiogenic shock complicating acutely decompensated heart failure (ADHF-CS) as compared with that complicating acute myocardial infarction (AMI-CS). All patients with AMI-CS or ADHF-CS enrolled in the Altshock-2 registry between March 2020 and February 2022 were selected. The primary objective was the characterization of ADHF-CS patients as compared with AMI-CS. In-hospital length of stay and mortality were secondary endpoints. One-hundred-ninety of the 238 CS patients enrolled in the aforementioned period were considered for the present analysis: 101 AMI-CS (80% ST-elevated myocardial infarction and 20% non-ST-elevated myocardial infarction) and 89 ADHF-CS. As compared with AMI-CS, ADHF-CS patients were younger [63 (IQR 59-76) vs. 67 (IQR 54-73) years, P = 0.01], but presented with higher creatinine [1.6 (IQR 1.0-2.6) vs. 1.2 (IQR 1.0-1.4) mg/dL, P < 0.001], bilirubin [1.3 (IQR 0.9-2.3) vs. 0.6 (IQR 0.4-1.1) mg/dL, P = 0.01], and central venous pressure values [14 mmHg (IQR 8-12) vs. 10 mmHg (IQR 7-14),P = 0.01]. Norepinephrine was the most common catecholamine used in AMI-CS (79.3%), whereas epinephrine was used more commonly in ADHF-CS (65.5%); 75.8% vs. 46.6% received a temporary mechanical support in AMI-CS and ADHF-CS, respectively (P < 0.001). Length of hospital stay was longer in the latter [28 (IQR 13-48) vs. 17 (IQR 9-29) days, P = 0.001]. Heart replacement therapies were more frequently used in the ADHF-CS group (heart transplantation 13.5% vs. 0% and left ventricular assist device 11% vs. 2%, P < 0.01 and 0.01, respectively). In-hospital mortality was 41.1% (38.6% AMI-CS vs. 43.8% ADHF-CS, P = 0.5). ADHF-CS is characterized by a higher prevalence of end-organ and biventricular dysfunction at presentation, a longer hospital length of stay, and higher need of heart replacement therapies when compared with AMI-CS. In-hospital mortality was similar between the two aetiologies. Our data warrant development of new management protocols focused on CS aetiology

Cryoballoon pulmonary vein ablation and left atrialappendage closure combined procedure: A long-termfollow-up analysis

BACKGROUND: The combined left atrial appendage closure (LAAC) and cryoenergy pulmonary vein isolation (PVI) procedure has been proven safe and effective in managing stroke in patients with nonvalvular atrial fibrillation (AF), although most data refer to procedures performed using radiofrequency as the main energy source. OBJECTIVE: The purpose of this study was to evaluate long-term follow-up of patients with AF undergoing concomitant LAAC and cryoenergy PVI. METHODS: Patients undergoing LAAC and cryoballoon PVI at our institution were enrolled. At 3, 6, and 24 months from the index procedure, we determined the atrial arrhythmia recurrence rate, the extent of LAAC, and the rate of cerebrovascular/bleeding events. RESULTS: Forty-nine patients (mean age 69 \ub1 8 years; 67% men; CHA2DS2-VASc score 2.8 \ub1 1.2; HAS-BLED score 3 \ub1 1) with a guideline LAAC indication were included. Acute PVI and complete LAAC were achieved in 100% of patients. All patients completed at least 24 months of follow-up. At 8 weeks and 6 months, complete or satisfactory (&lt;5 mm leak) LAAC rates were achieved in 82% and 18% and in 86% and 14% of patients, respectively. The overall freedom from atrial arrhythmia rate at 24 months was 60%, and 92% of patients were off antithrombotic drugs. The observed annualized stroke and bleeding rates were 1% and 2%, respectively, a 71% and 60% risk reduction in comparison to event rates predicted from CHA2DS2-VASc and HAS-BLED scores. CONCLUSION: Concomitant cryoballoon ablation and LAAC procedures appear safe and effective at long-term follow-up, with high antithrombotic drug withdrawal rates at 24 months

Prevalence and clinical significance of collateral findings detected by chest computed tomography in patients undergoing atrial fibrillation ablation

Aims Chest computed tomography (CT) scanning is increasingly used as an imaging technique in patients undergoing atrial fibrillation (AF) catheter ablation. Chest CT scans visualize organs other than the heart and collateral findings may be identified incidentally. Our study aims to assess the prevalence and clinical relevance of such collateral findings in patients undergoing AF ablation. Methods and results One hundred and seventy-three patients (127 males, age 59 +/- 10 years) underwent chest CT scan for image integration in AF ablation. Collateral findings from visualized thoracic and upper abdominal organs were collected. Findings that required further investigations or treatment according to current guidelines were considered as clinically significant. A total of 164 collateral findings were identified in 97 (56%) patients, and most patients showed abnormalities of the lungs (67 patients, 39%). Forty-nine (28%) patients had clinically significant findings needing further investigation and 17 (10%) of them required specific treatments, including three cases (1.7%) of lung malignancy. Conclusions Chest CT images acquired for integration in AF ablation should be read thoroughly as they may serve as a screening tool for otherwise unrecognized clinically significant conditions of the heart, lungs, or other visualized organs

The Growing Culture Of A Minimally Fluoroscopic Approach In Electrophysiology Lab

Most of interventional procedures in cardiology are carried out under fluoroscopic imaging guidance. Besides other peri-interventional risks, radiation exposure should be considered for its stochastic (inducing malignancy) and deterministic effects on health (tissue reactions like erythema, hair loss and cataracts). In this article we analized the radiation risk from cardiovascular imaging to both patients and medical staff and discusses how customize the X-ray system and how to implement shielding measures in the cath lab. Finally, we reviewed the most recent developments and the latest findings in catheter navigation and 3D electronatomical mapping systems that may help to reduce patient and operator exposure

Synthesis of Indanes Via a [3+2] Cycloaddition

The acid -promoted [3+2] cycloaddition of alkenes with benzhydrylic alcohols afford products in good yield and with remarkable stereoselectivity

Gold Stabilized Aqueous Sols Immobilized on Mesoporous CeO2-Al2O3 as Catalysts for the Preferential Oxidation of Carbon Monoxide

Nanostructured Au/Al2O3-CeO2 catalysts with a low content of precious metal (0.9%wt.) were prepared immobilizing two different stabilized Au sols on a high surface area Al2O3-CeO2 mixed oxide with a uniform pore size distribution, synthesized by a one-pot methodology. The samples were characterized by elemental analysis, N2 physisorption, XRPD, TEM and 27Al-MAS NMR techniques. The catalytic activity of the two samples in the preferential oxidation of CO in excess of H2 (CO-PROX) was comparatively evaluated in the 35-110\ub0C temperature range. The Au-THPS/AlCe20 sample, prepared immobilizing a sol obtained reducing an aqueous solution of gold tetrachloroaurate salt with bis[tetrakis(hydroxymethyl)phosphonium sulfate], resulted very active and selective at low temperatures and its catalytic activity was correlated with the structural characteristics of the metal particles and of the ordered mesoporous support

Gold stabilized aqueous sols immobilized on mesoporous CeO2-Al2O3 as catalysts for the preferential oxidation of carbon monoxide

Nanostructured Au/Al2O3-CeO2 catalysts with a low content of precious metal (0.9%wt.) were prepared immobilizing two different stabilized Au sols on a high surface area Al2O3-CeO2 mixed oxide with a uniform pore size distribution, synthesized by a one-pot methodology. The samples were characterized by elemental analysis, N2 physisorption, XRPD, TEM and 27Al-MAS NMR techniques. The catalytic activity of the two samples in the preferential oxidation of CO in excess of H2 (CO-PROX) was comparatively evaluated in the 35-110°C temperature range. The Au-THPS/AlCe20 sample, prepared immobilizing a sol obtained reducing an aqueous solution of gold tetrachloroaurate salt with bis[tetrakis(hydroxymethyl)phosphonium sulfate], resulted very active and selective at low temperatures and its catalytic activity was correlated with the structural characteristics of the metal particles and of the ordered mesoporous support