Phenotypic effects induced by knock-down of the period clock gene in Bombyx mori.

SummaryThe lepidopteranBombyx moriis an insect of considerable scientific and economic importance. Recently, theB. moricircadian clock geneperiodhas been molecularly characterized. We have transformed aB. moristrain with a construct encoding aperioddouble-strand RNA in order to knock-downperiodgene expression. We observe that this post-transcriptional silencing produces a small but detectable disruption in the egg-hatching rhythm, as well as a reduction in egg-to-adult developmental time, without altering silk production parameters. Thus we show that both circadian and non-circadian phenotypes can be altered by changingperexpression, and, at a practical level, these results suggest thatperknock-down may provide a suitable strategy for improving the efficiency of rearing, without affecting silk productivity

Appunti di psicologia dello sviluppo

Manuale per gli studenti universitari elaborato con l’intento di proporre una introduzione ai temi ed i metodi della psicologia dello sviluppo. Il punto di vista privilegiato adottato dagli autori è quello psicodinamico psicoanalitico. Alla presentazione della materia si è cercato di dare una forma quanto più snella possibile, partendo dalle domande che più frequentemente sono state poste dagli studenti nei corsi d’insegnamento. Ad una prima parte che tratta degli aspetti definitori e metodologici di questa area disciplinare, segue una disamina delle principali teorie psicoanalitiche sullo sviluppo psicoaffettivo e sul funzionamento mentale. Il manuale prosegue poi trattando i diversi ambiti tematici della psicologia dello sviluppo (sviluppo della percezione, sviluppo psicomotorio, del linguaggio e della comunicazione, del pensiero, dell’apprendimento, della letto-scrittura) privilegiando l’approccio psicodinamico quale specifica angolatura di comprensione. Vengono considerati anche i temi del gioco, della genitorialità, della fratellanza e delle implicazioni psicoaffettive della disabilità fisica in corso di sviluppo. L’adolescenza viene trattata nei suoi aspetti psicodinamici più importanti, insieme a capitoli sui comportamenti autolesivi e suicidari e sull’impatto evolutivo dell’uso del computer, dei videogames e dello smartphone nei processi di soggettivazione e di socializzazione. In una prospettiva “life span” il libro si occupa infine della psicodinamica della vita adulta e della senescenza

Phenotypic effects induced by knock-down of the period clock gene in Bombyx mori

The lepidopteran Bombyx mori is an insect of considerable scientific and economic importance. Recently, the B. mori circadian clock gene period has been molecularly characterized. We have transformed a B. mori strain with a construct encoding a period double-strand RNA in order to knock-down period gene expression. We observe that this post-transcriptional silencing produces a small but detectable disruption in the egg-hatching rhythm, as well as a reduction in egg-to-adult developmental time, without altering silk production parameters. Thus we show that both circadian and non-circadian phenotypes can be altered by changing per expression, and, at a practical level, these results suggest that per knock-down may provide a suitable strategy for improving the efficiency of rearing, without affecting silk productivity

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but effects on co-morbidities like bulbar function are unknown. We analysed data concerning feeding problems and their standard of care treatment in 146 patients with spinal muscular atrophy type 2. Data were collected from two separate cohorts: one single-centre retrospective chart review study from the United Kingdom (London), and one prospective questionnaire-based multicentre study from Italy. Cumulatively feeding difficulties were present in 88 patients (60%) in these 2 cohorts. Median age at onset of problems was 6.5years (range 0–16.5 years). Eighty-two patients (60%) showed periods of underweight according to age adjusted body mass index, and thirty-six patients (25%) showed malnourishment with a significant drop on their weight curves. Enteral feeding was indicated in 23 out of 72 patients in the UK cohort (32%) because of weight loss, oropharyngeal dysphagia or aspiration. Gastrostomy and its placement was generally well tolerated, uncomplicated in 96%, never reversed and performed without Nissen fundoplication in 66% of patients. After gastrostomy chest infections improved in 80% and nutritional status (e.g., Body Mass Index) in 84% of patients. These results show that feeding difficulties are a common problem in spinal muscular atrophy type 2. Treatment strategies should be tailor-made on the symptoms and needs of the individual patient.Fil: Wadman, Renske I.. University College London; Estados Unidos. Great Ormond Street Hospital Trust; Reino Unido. University Medical Center Utrecht; Países BajosFil: De Amicis, Ramona. Università degli Studi di Milano; ItaliaFil: Brusa, Chiara. University College London; Estados Unidos. Great Ormond Street Hospital Trust; Reino UnidoFil: Battezzati, Alberto. Università degli Studi di Milano; ItaliaFil: Bertoli, Simona. Università degli Studi di Milano; Italia. Istituto Auxologico Italiano; ItaliaFil: Davis, Tracey. Great Ormond Street Hospital for Children; Reino UnidoFil: Main, Marion. Great Ormond Street Hospital for Children; Reino UnidoFil: Manzur, Adnan. Great Ormond Street Hospital for Children; Reino UnidoFil: Mastella, Chiara. Mangiagalli e Regina Elena Hospital; ItaliaFil: Munot, Pinki. Great Ormond Street Hospital for Children; Reino UnidoFil: Imbrigiotta, Nadia. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino UnidoFil: Schottlaender, Lucia Valentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino Unido. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas; ArgentinaFil: Sarkozy, Anna. Great Ormond Street Hospital for Children; Reino UnidoFil: Trucco, Federica. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino UnidoFil: Baranello, Giovanni. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino Unido. Istituto Neurologico Carlo Besta; ItaliaFil: Scoto, Mariacristina. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino UnidoFil: Muntoni, Francesco. University College London; Estados Unidos. Great Ormond Street Hospital for Children; Reino Unid

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

Earlier analysis of the Italian population showed patterns of genetic differentiation that were interpreted as being the result of population settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since the analysis of diseased individuals can detect variants too rare to be resolved in normal individuals. We present data on the relative frequencies of 60 cystic fibrosis (CF) mutations in Italy and the geographical distribution of the 12 most frequent CF mutations screened in 3492 CF chromosomes originating in 13 Italian regions. The 12 most frequent mutations characterize about 73% of the Italian CF chromosomes. The most common mutation, delta F508, has an average frequency of 51%, followed by N1303K and G542X, both with average frequencies around 5%. Multivariate analyses show that the relative frequencies of CF mutations are heterogeneous among Italian regions, and that this heterogeneity is weakly correlated with the geographical pattern of non-DNA 'classical' genetic markers. The northern regions are well differentiated from the central-southern regions and within the former group the western and eastern regions are remarkably distinct. Moreover, Sardinia shows the presence of mutation T338I, which seems absent in any other European CF chromosome. The north-western regions of Italy, characterized by the mutation 1717-1G-->A, were under Celtic influence, while the north-east regions, characterized by the mutations R1162X, 2183AA-->G and 711 + 5G-->A, were under the influence of the Venetic culture

Global attitudes in the management of acute appendicitis during COVID-19 pandemic: ACIE Appy Study

Background: Surgical strategies are being adapted to face the COVID-19 pandemic. Recommendations on the management of acute appendicitis have been based on expert opinion, but very little evidence is available. This study addressed that dearth with a snapshot of worldwide approaches to appendicitis. Methods: The Association of Italian Surgeons in Europe designed an online survey to assess the current attitude of surgeons globally regarding the management of patients with acute appendicitis during the pandemic. Questions were divided into baseline information, hospital organization and screening, personal protective equipment, management and surgical approach, and patient presentation before versus during the pandemic. Results: Of 744 answers, 709 (from 66 countries) were complete and were included in the analysis. Most hospitals were treating both patients with and those without COVID. There was variation in screening indications and modality used, with chest X-ray plus molecular testing (PCR) being the commonest (19\ub78 per cent). Conservative management of complicated and uncomplicated appendicitis was used by 6\ub76 and 2\ub74 per cent respectively before, but 23\ub77 and 5\ub73 per cent, during the pandemic (both P < 0\ub7001). One-third changed their approach from laparoscopic to open surgery owing to the popular (but evidence-lacking) advice from expert groups during the initial phase of the pandemic. No agreement on how to filter surgical smoke plume during laparoscopy was identified. There was an overall reduction in the number of patients admitted with appendicitis and one-third felt that patients who did present had more severe appendicitis than they usually observe. Conclusion: Conservative management of mild appendicitis has been possible during the pandemic. The fact that some surgeons switched to open appendicectomy may reflect the poor guidelines that emanated in the early phase of SARS-CoV-2

Global variation in postoperative mortality and complications after cancer surgery: a multicentre, prospective cohort study in 82 countries

© 2021 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 licenseBackground: 80% of individuals with cancer will require a surgical procedure, yet little comparative data exist on early outcomes in low-income and middle-income countries (LMICs). We compared postoperative outcomes in breast, colorectal, and gastric cancer surgery in hospitals worldwide, focusing on the effect of disease stage and complications on postoperative mortality. Methods: This was a multicentre, international prospective cohort study of consecutive adult patients undergoing surgery for primary breast, colorectal, or gastric cancer requiring a skin incision done under general or neuraxial anaesthesia. The primary outcome was death or major complication within 30 days of surgery. Multilevel logistic regression determined relationships within three-level nested models of patients within hospitals and countries. Hospital-level infrastructure effects were explored with three-way mediation analyses. This study was registered with ClinicalTrials.gov, NCT03471494. Findings: Between April 1, 2018, and Jan 31, 2019, we enrolled 15 958 patients from 428 hospitals in 82 countries (high income 9106 patients, 31 countries; upper-middle income 2721 patients, 23 countries; or lower-middle income 4131 patients, 28 countries). Patients in LMICs presented with more advanced disease compared with patients in high-income countries. 30-day mortality was higher for gastric cancer in low-income or lower-middle-income countries (adjusted odds ratio 3·72, 95% CI 1·70–8·16) and for colorectal cancer in low-income or lower-middle-income countries (4·59, 2·39–8·80) and upper-middle-income countries (2·06, 1·11–3·83). No difference in 30-day mortality was seen in breast cancer. The proportion of patients who died after a major complication was greatest in low-income or lower-middle-income countries (6·15, 3·26–11·59) and upper-middle-income countries (3·89, 2·08–7·29). Postoperative death after complications was partly explained by patient factors (60%) and partly by hospital or country (40%). The absence of consistently available postoperative care facilities was associated with seven to 10 more deaths per 100 major complications in LMICs. Cancer stage alone explained little of the early variation in mortality or postoperative complications. Interpretation: Higher levels of mortality after cancer surgery in LMICs was not fully explained by later presentation of disease. The capacity to rescue patients from surgical complications is a tangible opportunity for meaningful intervention. Early death after cancer surgery might be reduced by policies focusing on strengthening perioperative care systems to detect and intervene in common complications. Funding: National Institute for Health Research Global Health Research Unit