Language production impairments in patients with a first episode of psychosis

Language production has often been described as impaired in psychiatric diseases such as in psychosis. Nevertheless, little is known about the characteristics of linguistic difficulties and their relation with other cognitive domains in patients with a first episode of psychosis (FEP), either affective or non-affective. To deepen our comprehension of linguistic profile in FEP, 133 patients with FEP (95 non-affective, FEP-NA; 38 affective, FEP-A) and 133 healthy controls (HC) were assessed with a narrative discourse task. Speech samples were systematically analyzed with a well-established multilevel procedure investigating both micro- (lexicon, morphology, syntax) and macro-linguistic (discourse coherence, pragmatics) levels of linguistic processing. Executive functioning and IQ were also evaluated. Both linguistic and neuropsychological measures were secondarily implemented with a machine learning approach in order to explore their predictive accuracy in classifying participants as FEP or HC. Compared to HC, FEP patients showed language production difficulty at both micro- and macro-linguistic levels. As for the former, FEP produced shorter and simpler sentences and fewer words per minute, along with a reduced number of lexical fillers, compared to HC. At the macro-linguistic level, FEP performance was impaired in local coherence, which was paired with a higher percentage of utterances with semantic errors. Linguistic measures were not correlated with any neuropsychological variables. No significant differences emerged between FEP-NA and FEP-A (p≥0.02, after Bonferroni correction). Machine learning analysis showed an accuracy of group prediction of 76.36% using language features only, with semantic variables being the most impactful. Such a percentage was enhanced when paired with clinical and neuropsychological variables. Results confirm the presence of language production deficits already at the first episode of the illness, being such impairment not related to other cognitive domains. The high accuracy obtained by the linguistic set of features in classifying groups support the use of machine learning methods in neuroscience investigations

Ask Doctor Smartphone! An App to Help Physicians Manage Foreign Body Ingestions in Children

Abstract: Background: Foreign body ingestion (FBI) represents the most common cause of emergent gastrointestinal endoscopy in children. FBI’s management can be quite challenging for physicians because of the variability of the clinical presentation, and the decision tree becomes even more intricate because of patient-specific variables that must be considered in the pediatric age range (e.g., age of patients and neuropsychiatric disorders) in addition to the mere characteristics of the foreign body. We present an application for smartphones designed for pediatricians and pediatric surgeons based on the latest guidelines from the official pediatric societies. The app aims to help physicians manage FBI quickly and properly in children. Materials and methods: The latest pediatric FBI management guidelines were reviewed and summarized. The flow chart we obtained guided the development of a smartphone application. A questionnaire was administered to all pediatric surgeon trainees at our institute to test the feasibility and helpfulness of the application. Results: An app for smartphones was obtained and shared for free on the Google Play Store and Apple Store. The app guides the physician step by step in the diagnostic process, analyzing all patient- and foreign body-specific characteristics. The app consultation ends with a suggestion of the most proper decision to make in terms of further radiological investigations and the indication and timing of endoscopy. A questionnaire administered to trainees proved the app to be useful and easy to use. Conclusion: We developed an app able to help pediatricians and pediatric surgeons manage FBI in children, providing standardized and updated recommendations in a smart and easily available way

BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses.

PURPOSE: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile. EXPERIMENTAL DESIGN: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total of 106 unrelated families affected with breast and/or ovarian cancer screened for mutations occurring in the whole BRCA1 gene by automatic direct sequencing. RESULTS: Germline BRCA1 mutations were found in 17 of 106 (16%) Sicilian families. The HBOC profile had a major frequency (66%) of mutations (P < 0.01). A total of 28 sequence variants was identified. Seven of these were pathogenic, 5 unknown biological variant (UV) and 16 polymorphisms. We also identified a pathological mutation (4843delC) as a possible Sicilian founder mutation. CONCLUSIONS: The present study is the first BRCA1 disease-associated mutations analysis in Southern Italian families. The early age of onset of such tumors and the association with the HBOC familial profile could be two valid screening factors for the identification of BRCA1 mutation carriers. Finally, we identified a BRCA1 mutation with a possible founder effec

Prevalenza e profili di antimicrobicoresistenza in Salmonella spp isolata da alimenti nel triennio 2019-2021

Summary Salmonella spp. is among the most frequent causes of foodborne diseases, and the increasing occurrence of MDR strains is an additional cause for concern. In the three-year period 2019-2021, we collected Salmonella spp. strains isolated from different food categories analyzed in the context of Regulation (EC) No 2073/2005, to assess their antibiotic susceptibility profile and ESBLs production. To determine the susceptibility profile and identify MDR strains, we performed the Kirby-Bauer method by testing 17 antibiotics belonging to different classes, moreover the double disc test therefore allowed us to evaluate ESBL production. Phenotypic tests showed that 36/67 strains are MDR and 53% of these are ESBLs producers. Our results confirmed the prevalence of S. Infantis MDR and ESBL producer in chicken meat, and that further studies on the prevalence of food-borne MDR strains are needed, especially from a One Health perspective. Introduzione: Salmonella spp. è comunemente causa di infezioni gastrointestinali e di focolai di origine alimentare nell’uomo. La principale via di infezione è l'ingestione di cibo o acqua contaminati e S. Enteritidis, S. Typhimurium, S. Typhimurium monofasica, S. Infantis e S. Derby rappresentano sono i cinque sierotipi più comunemente coinvolti nelle infezioni umane. Nell'UE, i controlli microbiologici sugli alimenti effettuati nel contesto del regolamento (CE) n. 2073/2005 hanno rilevato le percentuali più elevate di campioni positivi alla salmonella nei prodotti a base di uova, carne di pollame e prodotti a base di pollame, che risultano essere le maggiori fonti di trasmissione di Salmonella spp. per l'uomo [2]. L'uso eccessivo di antibiotici ha contribuito alla selezione di ceppi di Salmonella MDR (Multi Drug Resistant), resistenti a tre o più classi di antibiotici [3]. La diffusione di Salmonella MDR rappresenta un problema sanitario rilevante, in quanto causa ospedalizzazioni più lunghe, malattie prolungate e tassi di mortalità più elevati [7, 5]. Inoltre il meccanismo di resistenza è potenziato dalla presenza di beta-lattamasi a spettro esteso (ESBL), in grado di idrolizzare penicilline e cefalosporine di prima, seconda e terza generazione. Lo scopo di questo studio è stato quello di individuare i sierotipi di Salmonella spp. presenti in diverse matrici alimentari analizzate nel contesto del regolamento (CE) n. 2073/2005 [2] con particolare riguardo alla diffusione di Salmonella MDR produttore di ESBL. Materiali e metodi: Da gennaio 2019 a dicembre 2021 sono stati analizzati 145 carni di pollame, 106 di maiale, 54 di manzo, 109 molluschi bivalvi, 43 uova e 36 semi germogliati, per un totale di 493 matrici alimentari. L’isolamento di Salmonella spp è stato eseguito secondo la norma ISO 6579-1:2017, i ceppi sono stati identificati mediante saggi biochimici- enzimatici e sierotipizzazione, secondo lo schema Kauffmann - White - Le Minor [6]. Il fenotipo di suscettibilità agli antibiotici è stato determinato mediante il metodo Kirby-Bauer, testando 17 antibiotici appartenenti a 6 classi differenti. L'interpretazione delle zone di inibizione e la classificazione degli isolati come sensibili (S), intermedi (I) o resistenti (R) sono state effettuate secondo le linee guida CLSI [1]. Su 36 ceppi è stata testata la produzione di ESBL mediante Double Disk test (DDT), secondo le linee guida EUCAST [4] e su 19 dei ceppi testati è stata effettuata la caratterizzazione molecolare in PCR per la ricerca dei geni beta-lattamasi produttori. Risultati: Nel triennio 2019-2021, sul totale delle matrici alimentari esaminate, sono stati isolati 67 ceppi di Salmonella spp. (15/172 nel 2019, 17/132 nel 2020 e 35/189 nel 2021); inoltre, nel triennio considerato, sono state riscontrate le seguenti percentuali di isolamento (Figura 1): carne di pollame (40%, 52,9% e 71,4%), carne di maiale (20%, 23,5% e 5,7%), carne bovina (2,9% soltanto nel 2021), molluschi bivalvi (26,7% nel 2020 e 8,6% nel 2021), uova (11,8% soltanto nel 2020) e semi germogliati (13,3%, 11,8%, 11,4%). Tra i vari sierotipi isolati, S. Infantis è stato quello predominante (48%), isolato in 32 campioni di carne di pollame; i sierotipi di S. Typhimurium (9%), S. Derby (6%) e S. Enteritidis (3%) hanno mostrato una bassa prevalenza (Figura 2). Riguardo i profili di antimicrobicoresistenza, 43/67 ceppi testati sono risultati resistenti ad almeno un antibiotico, con percentuali del 31,3% alla kanamicina, 43,2% alle sulfonamidi, 47,7% all'acido nalidixico, 49,2% all'ampicillina e 50,7% alla tetraciclina. Pochi ceppi sono risultati resistenti a levofloxacina (5%) e cloramfenicolo (6%); tutti sono risultati sensibili a imipenem, ciprofloxacina ed enrofloxacina. Un profilo MDR è stato trovato in 36/67 ceppi (54%), che hanno mostrato resistenza a tre (n=4), quattro (n=22) e cinque (n=10) classi di antibiotici. I profili MDR più frequenti sono stati: R ad aminoglicosidi, beta-lattamici, chinolonici, sulfamidici e tetracicline (in 8 S. Infantis, 1 S. Salamae e 1 S. Kentucky) e R a beta-lattamici, chinolonici, sulfamidici e tetracicline (in 9 S. Infantis e 1 S. Cerro). Il DDT ha consentito di rilevare la produzione di ESBL in 19/36 ceppi MDR (53 %) (Figura 3). Tale risultato fenotipico è stato confermato rilevando in tutti i ceppi la presenza dei geni beta-lattamasi risultati, con maggiore frequenza, blaSHV (68.4%) e blaCTX- M (47.3%) Conclusioni: I nostri dati evidenziano come sia elevato il rischio di infezione da Salmonella MDR, in particolare produttore di ESBL, per i consumatori; inoltre confermano quanto raccomandato dall’EFSA rispetto alla necessità di un monitoraggio efficace dell’AMR anche negli alimenti, soprattutto in un’ottica One Health, che riconosce la circolarità della salute umana, animale ed ambientale

Molecular detection of TP53, Ki-Ras and p16INK4A promoter methylation in plasma of patients with colorectal cancer and its association with prognosis. Results of a 3-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.

BACKGROUND:Despite the improvement in detection and surgical therapy in the last years, the outcome of patients affected by colorectal carcinoma (CRC) remains limited by metastatic relapse. The aim of this study was to investigate the presence of free tumor DNA in the plasma of CRC patients in order to understand its possible prognostic role. PATIENTS AND METHODS: Ki-Ras, TP53 mutations and p16(INK4A) methylation status were prospectively evaluated in tumor tissues and plasma of 66 CRC patients. RESULTS: In 50 of the 66 primitive tumor cases (76%) at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. Eighteen of the 50 patients presented the same alteration both in the plasma and in the tumor tissue. At univariate analysis, Ki-Ras mutations proved to be significantly related to quicker relapse (P <0.01), whereas only a trend towards statistical significance (P = 0.083) was observed for the TP53 mutations CONCLUSIONS: Detection of Ki-Ras and TP53 mutation in plasma should be significantly related to disease recurrence. These data suggest that patients with a high risk of recurrence can be identified by means of the analysis of tumor-derived plasma DNA with the use of fairly non-invasive techniques

Current Knowledge on Endocrine Disrupting Chemicals (EDCs) from Animal Biology to Humans, from Pregnancy to Adulthood: Highlights from a National Italian Meeting

Wildlife has often presented and suggested the effects of endocrine disrupting chemicals (EDCs). Animal studies have given us an important opportunity to understand the mechanisms of action of many chemicals on the endocrine system and on neurodevelopment and behaviour, and to evaluate the effects of doses, time and duration of exposure. Although results are sometimes conflicting because of confounding factors, epidemiological studies in humans suggest effects of EDCs on prenatal growth, thyroid function, glucose metabolism and obesity, puberty, fertility, and on carcinogenesis mainly through epigenetic mechanisms. This manuscript reviews the reports of a multidisciplinary national meeting on this topic

Notulae to the Italian native vascular flora: 5.

In this contribution, new data concerning the distribution of native vascular flora in Italy are presented. It includes new records and confirmations to the Italian administrative regions for taxa in the genera Allium, Arabis, Campanula, Centaurea, Chaerophyllum, Crocus, Dactylis, Dianthus, Festuca, Galanthus, Helianthemum, Lysimachia, Milium, Pteris, and Quercus. Nomenclature and distribution updates, published elsewhere, and corrections are provided as supplementary material

Red Listing plants under full national responsibility: Extinction risk and threats in the vascular flora endemic to Italy

Taxa endemic to a country are key elements for setting national conservation priorities and for driving conservation strategies, since their persistence is entirely dependent on national policy. We applied the IUCN Red List categories to all Italian endemic vascular plants (1340 taxa) to assess their current risk of extinction and to highlight their major threats. Our results revealed that six taxa are already extinct and that 22.4% (300 taxa) are threatened with extinction, while 18.4% (247; especially belonging to apomictic groups) have been categorized as Data Deficient. Italian endemic vascular plants are primarily threatened by natural habitat modification due to agriculture, residential and tourism development. Taxa occurring in coastal areas and lowlands, where anthropogenic impacts and habitat destruction are concentrated, display the greatest population decline and extinction. The national network of protected areas could be considered effective in protecting endemic-rich areas (ERAs) and endemic taxa, but ineffective in protecting narrow endemic-rich areas (NERAs), accordingly changes to the existing network may increase the effectiveness of protection. For the first time in the Mediterranean Basin biodiversity hotspot, we present a comprehensive extinction assessment for endemic plants under the full responsibility of a single country. This would provide an important step towards the prioritization and conservation of threatened endemic flora at Italian, European, and Mediterranean level. A successful conservation strategy of the Italian endemic vascular flora should implement the protected area system, solve some taxonomical criticism in poorly known genera, and should rely on monitoring threatened species, and on developing species-specific action plans

Efficacy of a new technique - INtubate-RECruit-SURfactant-Extubate - "IN-REC-SUR-E" - in preterm neonates with respiratory distress syndrome: Study protocol for a randomized controlled trial

Background: Although beneficial in clinical practice, the INtubate-SURfactant-Extubate (IN-SUR-E) method is not successful in all preterm neonates with respiratory distress syndrome, with a reported failure rate ranging from 19 to 69&nbsp;%. One of the possible mechanisms responsible for the unsuccessful IN-SUR-E method, requiring subsequent re-intubation and mechanical ventilation, is the inability of the preterm lung to achieve and maintain an "optimal" functional residual capacity. The importance of lung recruitment before surfactant administration has been demonstrated in animal studies showing that recruitment leads to a more homogeneous surfactant distribution within the lungs. Therefore, the aim of this study is to compare the application of a recruitment maneuver using the high-frequency oscillatory ventilation (HFOV) modality just before the surfactant administration followed by rapid extubation (INtubate-RECruit-SURfactant-Extubate: IN-REC-SUR-E) with IN-SUR-E alone in spontaneously breathing preterm infants requiring nasal continuous positive airway pressure (nCPAP) as initial respiratory support and reaching pre-defined CPAP failure criteria. Methods/design: In this study, 206 spontaneously breathing infants born at 24+0-27+6 weeks' gestation and failing nCPAP during the first 24&nbsp;h of life, will be randomized to receive an HFOV recruitment maneuver (IN-REC-SUR-E) or no recruitment maneuver (IN-SUR-E) just prior to surfactant administration followed by prompt extubation. The primary outcome is the need for mechanical ventilation within the first 3&nbsp;days of life. Infants in both groups will be considered to have reached the primary outcome when they are not extubated within 30&nbsp;min after surfactant administration or when they meet the nCPAP failure criteria after extubation. Discussion: From all available data no definitive evidence exists about a positive effect of recruitment before surfactant instillation, but a rationale exists for testing the following hypothesis: a lung recruitment maneuver performed with a step-by-step Continuous Distending Pressure increase during High-Frequency Oscillatory Ventilation (and not with a sustained inflation) could have a positive effects in terms of improved surfactant distribution and consequent its major efficacy in preterm newborns with respiratory distress syndrome. This represents our challenge. Trial registration: ClinicalTrials.gov identifier: NCT02482766. Registered on 1 June 2015

Notulae to the Italian native vascular flora: 6

In this contribution, new data concerning the distribution of native vascular flora in Italy are presented. It includes new records, confirmations and status changes to the Italian administrative regions for taxa in the genera Alchemilla, Arundo, Bupleurum, Clematis, Clinopodium, Cota, Crassula, Cytisus, Euphorbia, Hieracium, Isoëtes, Lamium, Leontodon, Linaria, Lychnis, Middendorfia, Ophrys, Philadelphus, Pinus, Sagina, Sedum, Taeniatherum, Tofieldia, Triticum, Veronica, and Vicia. Nomenclature and distribution updates, published elsewhere, and corrigenda are provided as supplementary material