A Intervenção do Serviço Social em Crianças com Fibrose Cística e suas Famílias

Este artigo tem como objetivo partilhar a experiência de intervenção profissional do assistente social na saúde, mais precisamente com crianças portadoras de Fibrose Cística, refletindo sobre o impacto do diagnóstico nas famílias e como a sociedade brasileira vem se organizando através de políticas publicas  para o enfrentamento desta doença

The intervention of the social worker in children with cystic fibrosis and their families

Este artigo tem como objetivo partilhar a experiência de intervenção profissional do assistente social na saúde, mais precisamente com crianças portadoras de fibrose cística, refletindo sobre o impacto do diagnóstico nas famílias e como a sociedade brasileira vem se organizando através de políticas públicas para o enfrentamento desta doença.This article aims to share the experience of the social worker intervention in children presenting with cystic fibrosis, reflecting on the impact of diagnosis on families and how Brazilian society has organized itself through public policies in order to cope with this disease

“Resident gives work” x “Resident is all Good” : (re)thinking the role of Multiprofessional Residency in health

Este artigo traz os resultados obtidos em uma pesquisa qualitativa como produto final do processo de formação da residência multiprofissional no campo saúde da criança. Teve como objetivo problematizar o trabalho dos residentes multiprofissionais da pediatria de um hospital escola em relação às políticas de saúde. A pesquisa utilizou como instrumento de coleta de dados a entrevista semi-estruturada com os profissionais do campo e a técnica da análise de conteúdo para análise das respostas. Concluiu-se que oPrograma de Residência Multiprofissional em Saúde (RMS) tem propiciado uma atuação integral e interdisciplinar quando possível, com desafios relacionados às configurações da política pública de saúde e seus rebatimentos nos processos de precarização do mundo do trabalho, demandando dos profissionais residentes uma intensidade na execução das intervenções em detrimento ao processo de formação.This scientific article brings the results obtained in a qualitative research as the final product of the process of formation of multiprofessional residence in the field of child health. The objective was to problematize the work of multiprofessional pediatric residents of a school hospital in relation to health policies. The research used as a data collection instrument the semi-structured interview with pediatric professionals and the technique of content analysis for analysis of responses. It was concluded that the Multiprofessional Residency Program in Health (RMS) has provided an integral and interdisciplinary performance when possible, with challenges related to the configurations of public health policy and its consequences in the processes of precariousness of the world of work, demanding from resident professionals an intensity in the execution of interventions at the expense of the training process

Outcomes of the first 54 pediatric patients on long-term home parenteral nutrition from a single Brazilian center

Objectives: Data on multidisciplinary programs dedicated to home parenteral nutrition (HPN) in Latin America are limited. This study describes the results of the first multidisciplinary pediatric intestinal rehabilitation program for HPN at a public tertiary hospital in Brazil. Methods: We retrospectively reviewed patients aged 0–18 years with intestinal failure (IF) who required parenteral nutrition (PN) for >60 days between January/2014 and December/2020. Results: Fifty-four patients were discharged on HPN (15 achieved enteral autonomy, 34 continued on HPN at the end of the study, 1 underwent intestinal transplantation, and 4 died). The median (IQR) age at the study endpoint of patients who achieved enteral autonomy was 14.1 (9.7–19) versus 34.7 (20.4–53.9) months in those who did not achieve enteral autonomy. Overall prevalence of catheter-related thrombosis was 66.7% and catheterrelated bloodstream infection rate was 0.39/1000 catheter-days. Intestinal failure-associated liver disease (IFALD) was present in 24% of all patients; none of the patients who achieved enteral autonomy had IFALD. All patients showed significant improvement in anthropometric parameters during the HPN period. The sociodemographic characteristics of the patients’ family members were mothers less than 20 years old (7.5%), schooling time more than 10 years (55.5%), and household income between 1 and 3 times the minimum wage (64.8%). The 5-year survival rate for HPN is 90%, and 27.7% of patients achieve enteral autonomy. Conclusion: The treatment of pediatric patients with IF followed by a multidisciplinary pediatric intestinal rehabilitation program with HPN is feasible and safe in the Brazilian public health system

Fachinformation und EDV-Arbeitstechniken für Historiker: Einführung und Arbeitsbuch

'Der Sammelband versucht, die Erfahrungen einzufangen, die von den Herausgebern in den vergangenen Jahren an der Humboldt-Universität zu Berlin in der studentischen EDV-Ausbildung und beim Aufbau vernetzter Informationsdienste für Historiker gemacht wurden. Es handelt sich weder um einen der üblichen Sammelbände noch um eine einfache Softwareeinführung, sondern um ein praktisches Arbeitsbuch für Studierende und Nachwuchswissenschaftler zu Fragen des EDV-Einsatzes in den Geschichtswissenschaften. Dabei stehen das 'Internet' bzw. der Einsatz der sogenannten 'Neuen Medien' im Mittelpunkt. Im ersten Kapitel wird zunächst das Verhältnis der EDV zu den Geisteswissenschaften geklärt. Dies schließt eine Einführung in die Geschichte der EDV und die Betrachtung der EDV-Einsatzfelder in den Geschichtswissenschaften zu den Themen Bibliotheken im Internet, Wissenschaftlicher Alltag und Lehre sowie spezielle historische Fachinformationsangebote ein. Im zweiten Kapitel wird näher auf die Grundlagen der Datenverarbeitung eingegangen. Dabei liegt neben dem PC- und Netzbasiswissen das Hauptaugenmerk auf dem Internet und seinen Diensten. Darauf aufbauend werden im dritten Kapitel ausgewählte Applikationen aus den Bereichen Textverarbeitung, Beschreibungs- und Skriptsprachen, Tabellenkalkulation, Datenanalyse & Datenbanksysteme sowie Grafik, Präsentation und Multimedia an historischen Beispielen in ihrem Funktionsumfang vorgestellt. Im abschließenden vierten Kapitel wird der EDV-Einsatz in den Geschichtswissenschaften an ausgewählten Projekten in Forschung und Lehre exemplarisch beschrieben.' (Autorenreferat

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivation, without which sphingolipid production goes unchecked. The clinical severity reflects the degree to which CERT autoregulation is disrupted, and inhibiting CERT pharmacologically corrects morphological and motor abnormalities in a Drosophila model of the disease, which we call ceramide transporter (CerTra) syndrome. These findings uncover a central role for CERT autoregulation in the control of sphingolipid biosynthetic flux, provide unexpected insight into the structural organization of CERT, and suggest a possible therapeutic approach for patients with CerTra syndrome.This work was supported by the National Institute of Neurological Disorders and Stroke (NINDS), NIH (R01NS109858, to VAG); the Paul A. Marks Scholar Program at the Columbia University Vagelos College of Physicians and Surgeons (to VAG); a TIGER grant from the TAUB Institute at the Columbia Vagelos College of Physicians and Scientists (to VAG); the Swiss National Science Foundation (SNF 31003A-179371, to TH); the European Joint Program on Rare Diseases (EJP RD+SNF 32ER30-187505, to TH); the Swiss Cancer League (KFS-4999-02-2020, to GD); the EPFL institutional fund (to GD); the Kristian Gerhard Jebsen Foundation (to GD); the Swiss National Science Foundation (SNSF) (310030_184926, to GD); the Swiss Foundation for Research on Muscle Disease (FSRMM, to MAL); the Natural Science and Engineering Research Council of Canada (Discovery Grant 2020-04241, to JEB); the Italian Ministry of Health Young Investigator Grant (GR-2011-02347754, to EL); the Fondazione Istituto di Ricerca Pediatrica – Città della Speranza (18-04, to EL); the Wroclaw Medical University (SUB.E160.21.004, to RS); the National Science Centre, Poland (2017/27/B/NZ5/0222, to RS); Telethon Undiagnosed Diseases Program (TUDP) (GSP15001); the Temple Street Foundation/Children’s Health Foundation Ireland (RPAC 19-02, to IK); the Deutsche Forschungsgemeinschaft (DFG) (PO2366/2–1, to BP); the Instituto de Salud Carlos III, Spain (to ELM, EBS, and BMD); the National Natural Science Foundation of China (81871079 and 81730036, to HG and KX); and the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH (R01 DK115574, to SSC).The DEFIDIAG study is funded by grants from the French Ministry of Health in the framewok of the national French initiative for genomic medicine. The funders were not involved in the study design, data acquisition, analysis, or writing of the manuscript. Funding for the DECIPHER project was provided by Wellcome. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.S