Genomics of Acute Myeloid Leukemia: The Next Generation

Acute myeloid leukemia (AML) is, as other types of cancer, a genetic disorder of somatic cells. The detection of somatic molecular abnormalities that may cause and maintain AML is crucial for patient stratification. The development of mutation-specific therapeutic interventions will hopefully increase cure rates and improve patients’ quality of life. This review illustrates how next generation sequencing technologies are changing the study of cancer genomics of adult AML patients

The professional skills of the nurse involved in the care of individuals with sexually transmitted infections

INTRODUCTION: Sexually Transmitted Infections (STIs) represent a relevant public health issue that requires the combined contribution of different health care professionals in order to put in place proper prevention, diagnosis and treatment activities  METHODS: The Integrated health care model (PIC) is here applied to STIs. Designed as a territorial network of services including a multidisciplinary team of health care workers, this model works across a number of settings and levels of care. The specific contribution of the nurse with an adequate technical-scientific and relational communication background in STI care provision is analyzed.  RESULTS: Nurses and other Health Care Workers involved in the PIC for STIs are able to respond in a tailored manner to the various health needs of the person. The technical-scientific and relational communication competencies ensure the delivery of quality services. Moreover, nursing care should be STIs person-centred and used for to improve empowerment and healthy behaviors. Appropriate nursing staff education and training aimed at integrating technical-scientific knowledge with relational communication skills on STIs is highly desiderable.  CONCLUSIONS: Nurses area a crucial component in the PIC for STIs, because they are engaged in the care of a complex, delicate and intimate component of the individual. Therefore, to improve service performance, an improvement and extension of nurses duties in STI centers would be highly desirable. Standardized care protocols established by the local Health Department could be used as direction as well as an updating of the current Italian legislation which does not allow to adapt nursing competencies to the real care requirements.  KEYWORDS: sexually transmitted infections, Italy, nurses, integrated care, training, health communication.INTRODUZIONE: Le Infezioni Sessualmente Trasmesse (IST) rappresentano a livello nazionale un importante problema di sanità pubblica che richiede interventi di prevenzione, diagnosi e cura condotti attraverso la collaborazione integrata di professionisti sanitari differenti.  METODI: È stato utilizzato il modello di Percorso Integrato di Cura (PIC) applicandolo alle IST, inteso come rete territoriale che prevede il coordinamento tra le diverse strutture sanitarie e tra i vari operatori sanitari coinvolti in questa specifica area. In tale ambito è stato analizzato il possibile contributo che il professionista infermiere, con un bagaglio tecnico-scientifico e comunicativo-relazionale adeguato, può fornire alla persona direttamente o indirettamente coinvolta in una IST.  RISULTATI: La conduzione di un intervento infermieristico professionale all’interno del PIC per le IST, ovviamente integrato con quello di altre figure professionali, intende rispondere in modo personalizzato ai diversi bisogni di salute espressi dalla persona. Inoltre, mira a promuovere nella persona con IST l’attivazione di processi di empowerment fondamentali per la messa in atto di stili comportamentali adeguati. Emerge, pertanto, l’esigenza di proporre al personale infermieristico un percorso di formazione/aggiornamento finalizzato all’integrazione delle conoscenze tecnico-scientifiche con quelle comunicativo-relazionali in tema di IST.  CONCLUSIONI: Il ruolo dell’infermiere costituisce un elemento cruciale all’interno di un PIC per le IST in quanto impegnato in un’area complessa e delicata che tocca la sfera più intima della persona coinvolgendola nella sua globalità. Appare, pertanto, fortemente auspicabile un ampliamento delle competenze dell’infermiere attraverso, prima, una elaborazione di protocolli aziendali standardizzati stabiliti dalla Direzione Sanitaria in cui opera il professionista infermiere, e successivamente un superamento della normativa vigente che ad oggi non consente di adeguare le competenze infermieristiche alle reali esigenze assistenziali.  PAROLE CHIAVE: infezioni sessualmente trasmesse, Italia, infermiere, percorso di cura integrato, formazione, epidemiologia, comunicazione&nbsp

Time makes histone H3 modifications drift in mouse liver

To detect the epigenetic drift of time passing, we determined the genome-wide distributions of mono- and tri-methylated lysine 4 and acetylated and tri-methylated lysine 27 of histone H3 in the livers of healthy 3, 6 and 12 months old C57BL/6 mice. The comparison of different age profiles of histone H3 marks revealed global redistribution of histone H3 modifications with time, in particular in intergenic regions and near transcription start sites, as well as altered correlation between the profiles of different histone modifications. Moreover, feeding mice with caloric restriction diet, a treatment known to retard aging, reduced the extent of changes occurring during the first year of life in these genomic regions

Bone Marrow Clonogenic Capability, Cytokine Production, and Thymic Output in Patients with Common Variable Immunodeficiency

AbstractIn patients with primary Ab deficiencies, hematological and immunological abnormalities are frequently observed. A regenerative failure of hemopoietic stem/progenitor cells has been hypothesized. We evaluated in the bone marrow (BM) of 11 patients with common variable immunodeficiency, the phenotype of BM progenitors and their in vitro growth by colony-forming cell (CFC) and long-term culture (LTC) assays. A significant decrease in erythroid and mixed CFC and, to a greater extent, in primitive LTC-CFC progenitors was observed in patients compared with healthy controls. The frequency of BM pre-B and pro-B cells correlated directly with the absolute number of CD19+ lymphocytes. BM cells cultured in vitro produced spontaneously lower amounts of IL-2 and elevated levels of TNF-α compared with controls, indicating a skewing toward a proapoptotic cytokine pattern. In addition, stromal cells generated after BM LTC secreted less IL-7 and displayed by immunohistochemistry an altered phenotype. These findings were associated with a significant decrease in naive Th cells coexpressing CD31 in the peripheral blood. These results indicate an impaired growth and differentiation capacity of progenitor cells in patients with common variable immunodeficiency

Gliomatosis cerebri type II: two case reports

Two types of gliomatosis cerebri exist: Type I and Type II. We report the results of a histological and genetic study of two cases of gliomatosis cerebri Type II, correlating these results with therapy and prognosis. Case presentation Two patients, a 52-year-old man (Patient 1) and a 76-year-old man (Patient 2) with gliomatosis cerebri II were admitted to our institution; they underwent surgical treatment and received radiotherapy and chemotherapy. At the 24-month follow-up, Patient 1 was still alive, while Patient 2 had died. The poor prognosis of Patient 2 was underlined by molecular analysis which showed that the angiogenesis related genes VCAM1 and VEGF were overexpressed, reflecting the high degree of neovascularization. Conclusion Genes involved in drug resistance and metallothioneins were highly expressed in Patient 2 and this, associated with unmethylated O6-methylguanine methyltransferase, can explain the lack of response to chemotherapy

The effects of gender on electrical therapies for the heart: procedural considerations, results and complications: A report from the XII Congress of the Italian Association on Arrhythmology and Cardiostimulation (AIAC)

Use of cardiac implantable devices and catheter ablation is steadily increasing in Western countries following the positive results of clinical trials. Despite the advances in scientific knowledge, tools development, and techniques improvement we still have some grey area in the field of electrical therapies for the heart. In particular, several reports highlighted differences both in medical behaviour and procedural outcomes between female and male candidates. Women are referred later for catheter ablation of supraventricular arrhythmias, especially atrial fibrillation, leading to suboptimal results. On the opposite females present greater response to cardiac resynchronization, while the benefit of implantable defibrillator in primary prevention seems to be less pronounced. Differences on aetiology, clinical profile, and development of myocardial scarring are the more plausible causes. This review will discuss all these aspects together with gender-related differences in terms of acute/late complications. We will also provide useful hints on plausible mechanisms and practical procedural aspects

Site Amplifications in the epicentral area of the 2016, M 6, Amatrice earthquake (Italy)

The first mainshock (Mw 6.0) of the 2016 Central Italy seismic sequence, severely struck the Amatrice village and the surrounding localities. After a few days, some Italian Institutions, coordinated by the “Center for Seismic Microzonation and its applications”, carried out several preparatory activities for seismic microzonation of the area. A temporary seismic network was installed that monitored about 50 sites in epicentral area. The network produced a huge amount of records in a wide range of magnitude up to Mw 6.5. For about half of the recording stations, detailed site characterization was undertaken, encompassing single station noise measurements and S-wave velocity profiles. The geological and geophysical data together with the collected dataset of seismic signals were exploited to investigate the site response of selected stations. Significant amplifications are found in the correspondence of several sites that experienced a high level of damage (Imcs >IX), mainly at short and intermediate periodsPublishedRoma5T. Sismologia, geofisica e geologia per l'ingegneria sismic

Interaction Between Functional Genetic Variation of DRD2 and Cannabis Use on Risk of Psychosis

Both cannabis use and the dopamine receptor (DRD2) gene have been associated with schizophrenia, psychosis-like experiences, and cognition. However, there are no published data investigating whether genetically determined variation in DRD2 dopaminergic signaling might play a role in individual susceptibility to cannabis-associated psychosis. We genotyped (1) a case-control study of 272 patients with their first episode of psychosis and 234 controls, and also from (2) a sample of 252 healthy subjects, for functional variation in DRD2, rs1076560. Data on history of cannabis use were collected on all the studied subjects by administering the Cannabis Experience Questionnaire. In the healthy subjects' sample, we also collected data on schizotypy and cognitive performance using the Schizotypal Personality Questionnaire and the N-back working memory task. In the case-control study, we found a significant interaction between the rs1076560 DRD2 genotype and cannabis use in influencing the likelihood of a psychotic disorder. Among cannabis users, carriers of the DRD2, rs1076560, T allele showed a 3-fold increased probability to suffer a psychotic disorder compared with GG carriers (OR = 3.07; 95% confidence interval [CI]: 1.22-7.63). Among daily users, T carrying subjects showed a 5-fold increase in the odds of psychosis compared to GG carriers (OR = 4.82; 95% CI: 1.39-16.71). Among the healthy subjects, T carrying cannabis users had increased schizotypy compared with T carrying cannabis-naïve subjects, GG cannabis users, and GG cannabis-naïve subjects (all P ≤ .025). T carrying cannabis users had reduced working memory accuracy compared with the other groups (all P ≤ .008). Thus, variation of the DRD2, rs1076560, genotype may modulate the psychosis-inducing effect of cannabis us

Safety and feasibility of outpatient surgery in benign prostatic hyperplasia: a systematic review and meta-analysis

Purpose: Most of endourological procedures along the urinary tract have been widely practiced as outpatient operations, including surgery for BPH. This systematic review and meta-analysis was conducted to assess safety and feasibility of outpatient surgery for patients suffering from symptomatic BPH candidate for endoscopic disobstruction. Materials and methods: PubMed, Web of Science, Cochrane, and Embase were searched up until March 30, 2020. MINORS tool was utilized to assess the quality of included studies and a pooled measure of failure or event rate (FR, ER) estimate was calculated. Further sensitivity analysis, subgroup analysis, and meta-regression were conducted to investigate contribution of moderators to heterogeneity. Results: Twenty studies with a total of 1626 patients treated according to outpatient criteria for endoscopic BPH surgery were included. In total, 18 studies reporting data on immediate hospital readmission and/or inability to discharge after endoscopic procedure presented FR estimates ranging from 1.7% to 51.1%. Pooled FR estimate was 7.8% (95% confidence interval [CI]: 5.2%-10.3%); Heterogeneity: Q=76.85; d.f.=17, p<.001; I2= 75.12%. Subgroup analysis according to surgical technique revealed difference among the three approaches with pooled FR of 3% (95%CI: 1%-4.9%), 7.1% (95%CI: 3.9-10.4) and 11.8% (95%CI: 7-16.7%) for TURP, Green-light and HoLEP respectively (p<.001). At meta-regression analysis, none of the retrieved covariates were able to significantly influence the cumulative outcomes reported. ER for postoperative complications and early outpatient visit showed a pooled estimate of 18.6% (95%CI: 13.2%-23.9%) and 7.7% (95%CI: 4.3%-11%) respectively. Conclusions: Our analysis revealed how transurethral procedures for BPH on an outpatient setting are overall reliable and safe. Of note, there were significant outcome differences between groups with regard of type of surgical procedure, perioperative prostate volume and discharge protocol suggesting the need for further prospective analysis to better elucidate the best strategy in such outpatient conduct