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BACKGROUND: Viral respiratory infections may precipitate type 1 diabetes (T1D). A possible association between the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for COVID-19, and the incidence of T1D is being determined. This study was carried out using Portuguese registries, aiming at examining temporal trends between COVID-19 and T1D. METHODS: Hospital data, comparing the incidence before and during the COVID-19 pandemic, from children and young adults diagnosed with new-onset T1D, was acquired beginning in 2017 and until the end of 2022. Data was obtained from nine different Portuguese hospital units. The impact of the COVID-19 pandemic, beginning in March 2020, was assessed comparing the annual numbers of new-onset T1D cases. The annual median levels of glucose, glycated hemoglobin (HbA1c) and fasting C-peptide at T1D diagnosis were compared. The annual number of diabetic ketoacidosis (DKA) episodes among new T1D cases was also assessed at two centers. RESULTS: In total, data from 574 newly diagnosed T1D patients was analyzed, including 530 (92.3%) children. The mean ages for child and adult patients were 9.1 (SD 4.4) and 32.8 (SD 13.6) years, respectively. 57.8% (331/573) were male, one patient had unknown sex. The overall median (25-75 percentiles) levels of glucose, HbA1c and fasting C-peptide at diagnosis were 454 mg/dL (356-568), 11.8% (10.1-13.4) and 0.50 µg/L (0.30-0.79), respectively. DKA at T1D diagnosis was present in 48.4% (76/157). For eight centers with complete 2018 to 2021 data (all calendar months), no overall significant increase in T1D cases was observed during the COVID-19 pandemic, i.e. 90 cases in 2018, 90 cases in 2019, 112 in 2020 and 100 in 2021 (P for trend = 0.36). Two of the centers, Faro (CHUA) and Dona Estefânia (CHULC) hospitals, did however see an increase in T1D from 2019 to 2020. No significant changes in glucose (P = 0.32), HbA1c (P = 0.68), fasting C-peptide (P = 0.20) or DKA frequency (P = 0.68) at the time of T1D diagnosis were observed over the entire study period. CONCLUSION: The T1D incidence did not increase significantly, when comparing the years before and during the COVID-19 pandemic, nor did key metabolic parameters or number of DKA episodes change.
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COVID-19 , Diabetes Mellitus Tipo 1 , Sistema de Registros , Humanos , COVID-19/epidemiologia , COVID-19/complicações , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/complicações , Masculino , Portugal/epidemiologia , Feminino , Incidência , Criança , Adulto , Adolescente , Adulto Jovem , Pré-Escolar , Hemoglobinas Glicadas/análise , Hemoglobinas Glicadas/metabolismo , SARS-CoV-2 , Cetoacidose Diabética/epidemiologia , Glicemia/análise , Glicemia/metabolismoRESUMO
Neonates often require vascular access devices for medication or fluid therapy, but a third of devices fail before treatment completion or end with a complication. For adults and children, securing these devices with tissue adhesive (TA) increases the dwell and reduces complications. However, there is a lack of evidence for the neonatal population. This scoping review aimed to assess the evidence of TA for vascular access devices in neonates. The Arksey and O'Malley's (2005) framework was used. The inclusion criteria covered studies published from 2007 (when TA was first reported for use in vascular access devices) to June 2024, available in English, Portuguese, and Spanish, across six databases. Two independent reviewers assessed the studies using Covidence software, with a third reviewer resolving conflicts. Quality assessment was performed using the Mixed Methods Appraisal Tool. From 981 identified studies, 12 were included. Most studies (n = 5, 41.7%) enrolled between 100 and 500 neonates with vascular access devices. Publications originated from four regions and were observational studies (n = 6, 50%), quasi-experimental (n = 3, 25%), and case series (n = 2, 16.7%) with one randomized controlled trial (8.3%) focusing on umbilical venous catheters (UVC). The most common TA composition used was a combination of n-butyl- and 2-octyl- cyanoacrylate (n = 4, 33.3%). The amount of TA applied varied across studies, and often TA was part of a bundle (n = 7, 58.3%). Most studies applied TA to central venous access devices (n = 10, 83.3%) and 2 (16.7%) in peripheral devices. Although there was variation in device failure, the studies generally indicated a reduction in complications such as dislodgment (central catheter: 11.3% [peripherally inserted central catheter {PICC}] to 24.6% [UVC] in non-TA group vs 0.7% [PICC] to 7.7% [UVC] in TA group), device-associated bloodstream infections (central: 7.7% [UVC] and incidence of 2.76/1000 catheter days [PICC] in non-TA group vs 3.1% [UVC] and incidence of 0.99/1000 catheter day [PICC] in TA group), and phlebitis (13% in non-TA group vs 3% in TA-group), as well as increased dwell time in peripheral catheters. Most studies included both term and preterm neonates but did not differentiate between them in their analyses. Skin assessment, life of first dressing, and follow-up of catheters and patients were not reported in most studies. CONCLUSION: TA may reduce complications in vascular access devices, but the evidence in neonates is limited and varied. Many studies include TA as part of bundle, making it difficult to isolate its effects. Additionally, the current evidence lacks robustness due to the design limitations of the studies. Future research should focus on randomized controlled trials to evaluate TA's effectiveness and safety in preventing device failures and complications in neonates, considering different subgroups, to ensure the safety of TA in these nuanced populations. WHAT IS KNOWN: ⢠Research in adults and pediatrics provides evidence supporting the use of tissue adhesive (TA) for vascular access devices, showing a positive impact in reducing failures and complications. ⢠The use of TA in neonates needs to be carefully considered due to their unique characteristics. WHAT IS NEW: ⢠There is a gap in the literature on the use of TA for securing vascular access devices in neonates, particularly regarding its safety and effectiveness in preventing failures and complications. ⢠Further studies are needed to provide robust evidence verifying the effectiveness and safety of TA in this population.
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AIM: To determine whether the I-DECIDED assessment and decision tool enhances peripheral intravenous catheter assessment, care and decision-making in paediatrics. DESIGN: Quasi-experimental, interrupted time-series study. METHODS: An interrupted time-series study was conducted in a paediatric inpatient unit at a public teaching hospital in Brazil. The participants were patients aged less than 15 years old with a peripheral intravenous catheter, and their parents or guardians. Data were collected between January and July 2023, encompassing six time points, three pre-intervention and three post-intervention. Evaluation data were based on the I-DECIDED tool, including idle devices, dressings, complications, patient/family awareness, hand hygiene, disinfection and documentation. RESULTS: We conducted 585 peripheral intravenous catheter observations, with 289 in the pre-intervention phase and 296 in the post-intervention phase, inserted in 65 hospitalised children, 30 in the pre-intervention phase and 35 in the post-intervention phase. After the intervention, reductions were observed in the number of idle catheters, substandard dressings and complications. Patients and family members reported an increase in device assessment, hand hygiene and peripheral intravenous catheter disinfection. Additionally, there was an increase in documentation of decision-making performed by nurses and nursing technicians/assistants. CONCLUSION: Implementation of the I-DECIDED assessment and decision tool in a paediatric unit significantly improved the assessment, care and decision-making regarding peripheral intravenous catheters. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: Opportunity to enhance practice standards, elevate the quality of care provided to paediatric patients, contribute to improved patient outcomes, advance evidence-based practice in vascular access management and enhance patient experience through increased involvement in care. IMPACT: To influence clinical practice and healthcare policies aimed at improving peripheral intravenous catheter care and patient safety in paediatric settings. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution to the design of this study.
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BACKGROUND: The PiccPed® health application was developed to support clinical decision-making in peripherally inserted central catheter (PICC) management. We aimed to evaluate its impact on nurses' knowledge regarding the prevention of PICC-associated adverse events in pediatrics and neonatology. METHODS: A quasi-experimental, pre-post intervention study, was conducted with a dependent/paired sample of pediatric and neonatal nurses from two tertiary hospitals in South Brazil. Data were collected from October 2022 to January 2023 across three phases: pre-, intervention (use of the PiccPed®) and post-test. Study outcomes were a knowledge test (15 questions) of evidence-based PICC maintenance procedures, and PiccPed® app time spent and screens used. RESULTS: A total of 56 nurses completed the study. The post-test mean score was significantly higher (12/15; standard deviation (SD) 1.9) in comparison with the pre-test (mean 9/15; SD 2.2). The change in scores was significantly higher for nurses without postgraduate qualifications, in comparison to those with (Mean Difference 1.26; p = 0.039). Each minute using the app resulted in a significant increase of 0.04 points (95% confidence interval 0.01-0.08; p = 0.014) on the mean post-test score (10.94 points). CONCLUSION: The research demonstrated that PiccPed® enhances nurses' learning regarding the prevention of adverse events associated with PICC maintenance in pediatrics and neonatology. APPLICATION TO PRACTICE: The app can be safely and effectively used for training and continuing education of nurses who care for children and neonates with PICCs.
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Cateterismo Periférico , Enfermagem Pediátrica , Humanos , Cateterismo Periférico/efeitos adversos , Feminino , Masculino , Recém-Nascido , Enfermagem Neonatal/educação , Brasil , Competência Clínica , Aplicativos Móveis , Conhecimentos, Atitudes e Prática em Saúde , Cateterismo Venoso Central/efeitos adversos , Cateterismo Venoso Central/enfermagem , AdultoRESUMO
OBJECTIVES: Genetic variants in the dihydropyrimidine dehydrogenase (DPYD ) gene are associated with reduced dihydropyrimidine dehydrogenase enzyme activity and can cause severe fluoropyrimidine-related toxicity. We assessed the frequency of the four most common and well-established DPYD variants associated with fluoropyrimidine toxicity and implemented a relatively low-cost and high-throughput genotyping assay for their detection. METHODS: This study includes 457 patients that were genotyped for the DPYD c.1129-5923C>G, c.1679T>G, c.1905 + 1G>A and c.2846A>T variants, either by Sanger sequencing or kompetitive allele specific PCR (KASP) technology. Of these, 172 patients presented toxicity during treatment with fluoropyrimidines (post-treatment group), and 285 were tested before treatment (pretreatment group). RESULTS: Heterozygous DPYD variants were identified in 7.4% of the entire series of 457 patients, being the c.2846A>T the most frequent variant. In the post-treatment group, 15.7% of the patients presented DPYD variants, whereas only 2.5% of the patients in the pretreatment group presented a variant. The KASP assays designed in this study presented 100% genotype concordance with the results obtained by Sanger sequencing. CONCLUSIONS: The combined assessment of the four DPYD variants in our population increases the identification of patients at high risk for developing fluoropyrimidine toxicity, supporting the upfront routine implementation of DPYD variant genotyping. Furthermore, the KASP genotyping assay described in this study presents a rapid turnaround time and relatively low cost, making upfront DPYD screening feasible in clinical practice.
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Di-Hidrouracila Desidrogenase (NADP) , Neoplasias , Humanos , Di-Hidrouracila Desidrogenase (NADP)/genética , Genótipo , Alelos , Antimetabólitos , Heterozigoto , Neoplasias/tratamento farmacológico , Neoplasias/genéticaRESUMO
Organic nitrates are widely used to restore endogenous nitric oxide (NO) levels reduced by endothelial nitric oxide synthase dysfunction. However, these drugs are associated with undesirable side effects, including tolerance. This study aims to investigate the cardiovascular effects of the new organic nitrate 1,3-diisobutoxypropan-2-yl nitrate (NDIBP). Specifically, we assessed its effects on blood pressure, vascular reactivity, acute toxicity, and the ability to induce tolerance. In vitro and ex vivo techniques showed that NDIBP released NO both in a cell-free system and in isolated mesenteric arteries preparations through a process catalyzed by xanthine oxidoreductase. NDIBP also evoked endothelium-independent vasorelaxation, which was significantly attenuated by 2-phenyl-4,4,5,5,-tetramethylimidazoline-1-oxyl 3-oxide (PTIO, 300 µM), a nitric oxide scavenger; 1-H-[1,2,4] oxadiazolo-[4,3-a]quinoxalin-1-one (ODQ, 10 µM), a soluble guanylyl cyclase inhibitor; tetraethylammonium (TEA, 3 mM), a potassium channel blocker; febuxostat (500 nM), a xanthine oxidase inhibitor; and proadifen (10 µM), an inhibitor of cytochrome P450 enzyme. Furthermore, this organic nitrate did not induce tolerance in isolated vessels and presented low toxicity following acute oral administration. In vivo changes on cardiovascular parameters were assessed using normotensive and renovascular hypertensive rats. NDIBP evoked a reduction of blood pressure that was significantly higher in hypertensive animals. Our results suggest that NDIBP acts as a NO donor, inducing blood pressure reduction without having the undesirable effects of tolerance. Those effects seem to be mediated by activation of NO-sGC-cGMP pathway and positive modulation of K+ channels in vascular smooth muscle.
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Anti-Hipertensivos/uso terapêutico , Hipertensão/tratamento farmacológico , Artérias Mesentéricas/efeitos dos fármacos , Nitratos/uso terapêutico , Doadores de Óxido Nítrico/uso terapêutico , Vasodilatadores/uso terapêutico , Animais , Anti-Hipertensivos/metabolismo , Sistema Enzimático do Citocromo P-450/metabolismo , Feminino , Hipertensão/metabolismo , Masculino , Nitratos/metabolismo , Óxido Nítrico/metabolismo , Doadores de Óxido Nítrico/metabolismo , Canais de Potássio/metabolismo , Ratos Wistar , Transdução de Sinais/efeitos dos fármacos , Guanilil Ciclase Solúvel/metabolismo , Vasodilatadores/metabolismo , Xantina Desidrogenase/metabolismoRESUMO
PURPOSE: Mutations in the KRAS and NRAS (RAS) genes are negative predictors of response to anti-EGFR therapy in metastatic colorectal cancer (mCRC). The detection of mutations in circulating tumor DNA (ctDNA) has emerged as a less invasive strategy to assess the molecular profile of mCRC patients. We aimed to perform RAS mutational analysis in ctDNA from mCRC patients using BEAMing Digital PCR (OncoBEAM) and Idylla ctDNA qPCR and evaluate the concordance rate with RAS mutational status in tumor tissue and between these two methodologies with different limits of detection. METHODS: Blood samples were collected from 47 mCRC patients previously tested for RAS mutations in tumor tissue. DNA was extracted from plasma using the QIAamp Circulating Nucleic Acid Kit, and RAS mutation analysis was conducted using OncoBEAM RAS CRC and Idylla ctRAS assays. RESULTS: The overall agreement between tumor tissue and ctDNA analyses was 83% and 78.7% using the OncoBEAM and Idylla assays, respectively, with the concordance being 96.2% and 88.5% in naive treatment patients. The overall agreement between OncoBEAM and Idylla ctDNA analyses was 91.7%. CONCLUSIONS: Analysis of ctDNA is a viable strategy for clinical management of mCRC patients. Although the OncoBEAM assay sensitivity is somewhat higher, the fully automated Idylla platform also has good performance, while being cheaper and much less labor-intensive, for the detection of RAS mutations in plasma, either at diagnosis or after progression when considering anti-EGFR treatment rechallenge.
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DNA Tumoral Circulante , Neoplasias Colorretais , Biomarcadores Tumorais/genética , DNA Tumoral Circulante/genética , Neoplasias Colorretais/patologia , Análise Mutacional de DNA/métodos , GTP Fosfo-Hidrolases/genética , Humanos , Proteínas de Membrana/genética , Mutação/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Reação em Cadeia da Polimerase em Tempo RealRESUMO
HIGHLIGHTS: Compare effectiveness of chemical disinfectants in reducing S. aureus. Five disinfectants reduced the bacterial load, especially chlorhexidine solutions. Focus on Brazilian clinical practice of needleless connector disinfection. PURPOSE: This study aimed to gain further knowledge about the comparative effectiveness of chemical disinfectants in reducing the bacterial load of NCs inoculated with S. aureus. METHODS: Disinfection of needleless connectors was undertaken in vitro against S. aureus comparing 70% isopropyl alcohol (IPA), 70% ethanol, 0.5% and 2% chlorhexidine in 70% IPA applied with gauze, and 70% IPA single-use cap (Site-Scrub®). RESULTS: All disinfectants reduced the bacterial load (P<0.001), especially the chlorhexidine solutions. Mechanical friction should follow guidelines. CONCLUSION: This study found that all tested disinfectants effectively reduced the bacterial load and more clinical studies must be developed with a focus on the Brazilian clinical practice of needleless connector disinfection.
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Desinfetantes , Desinfecção , Humanos , Staphylococcus aureus , Clorexidina , Contaminação de Equipamentos/prevenção & controle , Carga Bacteriana , Desinfetantes/farmacologia , 2-Propanol/farmacologia , EtanolRESUMO
PURPOSE: To identify the incidence of delirium in a Pediatric Intensive Care Unit (PICU); to determine the factors associated with the occurrence of delirium and the agreement between two scales used for detection of pediatric delirium in critically ill children. DESIGNS AND METHOD: Descriptive longitudinal study carried out in a PICU. The sample consisted of 65 critically ill children admitted to the PICU, with more than 24 h of hospitalization, excluding children with neurological or cognitive impairment, hearing and visual impairment, chronic encephalopathy and declining consent to participate in the study. Two scales were applied, the Cornell Assessment of Pediatric Delirium (CAPD) and the Sophia Observation Withdrawal Symptoms - Pediatric Delirium Scale (SOS_PD). Descriptive and inferential statistical analysis, with a 5% significance level was performed. RESULTS: Delirium was identified in 7.7% of children, with duration of the disorder of about 2 days. A very good agreement (Kappa = 1; p-value <0.001) between the two scales was identified. CAPD presented positive predictive value of 80.0%. There was a statistical association between the occurrence of delirium and age less than 2 years (p = 0.060); female gender (p = 0.057); use of mechanical pulmonary ventilation (p = 0.034); antiemetics (p = 0.002); anticholinergics (p = 0.044), and changes in serum sodium and potassium (p = 0.053). CONCLUSION: Demographic, clinical, and pharmacological conditions were associated with the occurrence of delirium. PRACTICE IMPLICATIONS: Routine monitoring is the first step to any delirium prevention strategies, so delirium screening by the bedside nurse must be valued through a commitment to education and training.
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Delírio , Brasil/epidemiologia , Criança , Pré-Escolar , Estado Terminal/epidemiologia , Delírio/diagnóstico , Delírio/epidemiologia , Feminino , Humanos , Incidência , Unidades de Terapia Intensiva , Unidades de Terapia Intensiva Pediátrica , Estudos LongitudinaisRESUMO
The present study evaluated the surfactin production by Bacillus subtilis UFPEDA 438 using sugarcane molasses as a substrate. The effects of the cultivation conditions (temperature, agitation and aeration ratio) on the biosurfactant production and kinetic parameters were investigated. Characteristics of the biosurfactant were obtained after analyses of the emulsification index (EI) and critical micellar concentration (CMC) of the fermentation broth. The results showed that in relation to the product its formation kinetics is strongly affected by operational conditions. It was also observed that surfactin production can be partially dependent or fully independent on microbial growth. The maximum values of surfactin concentration (199.45 ± 0.13 mg/L) and productivity (8,187 mg/L.h) were obtained in the culture under cultivation time of 24 h, temperature of 36 °C, agitation of 100 rpm and aeration ratio of 0.4. Under optimal conditions, the fermentation broth achieved good emulsification capacity (EI >40%) and CMC value of 20.73 mg/L. The results revealed that Bacillus subtilis UFPEDA 438 is a good producer of biosurfactant and that sugarcane molasses is a viable substrate for the production of surfactin.
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Bacillus subtilis/metabolismo , Biotecnologia/métodos , Carbono/química , Melaço , Tensoativos/química , Bacillus/metabolismo , Biomassa , Meios de Cultura/farmacologia , Fermentação , Concentração de Íons de Hidrogênio , Cinética , Micelas , Saccharum , TemperaturaRESUMO
INTRODUCTION: Cardiovascular diseases are coupled to decreased nitric oxide (NO) bioavailability, and there is a constant search for novel and better NO-donors. Here we synthesized and characterized the cardiovascular effects of the new organic nitrate 2-nitrate-1,3-dioctanoxypropan (NDOP). METHODS: A combination of in vitro and in vivo experiments was performed in C57BL/6 mice and Wistar rats. Thus, the ability of NDOP in donating NO in a cell-free system and in vascular smooth muscles cells (VSMC) and its ability to induce vasorelaxation in aortic rings from mice were evaluated. In addition, changes in blood pressure and heart rate to different doses of NDOP were evaluated in conscious rats. Finally, acute pre-clinical toxicity to oral administration of NDOP was assessed in mice. RESULTS: In cell-free system, NDOP increased NO levels, which was dependent on xanthine oxidoreductase (XOR). NDOP also increased NO levels in VSMC, which was not influenced by endothelial NO synthase. Furthermore, incubation with the XOR inhibitor febuxostat blunted the vasorelaxation in aortic ring preparations. In conscious rats, NDOP elicited dose-dependent reduction in blood pressure accompanied with increased heart rate. In vessel preparations, NDOP (10-8-10-3 mol/L) induced endothelium-independent vasorelaxation, which was inhibited by the NO scavengers 2-phenyl-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide and hydroxocobalamin or by inhibition of soluble guanylyl cyclase using H- [1,2,4] oxadiazolo [4,3-a]quinoxalin-1-one. To investigate if NDOP acts through potassium channels, selective blockers were used. Inhibition of BKCa, Kv or KATP subtypes of potassium channels had no effect, but inhibition of inward-rectifier potassium channels (KIR) significantly reduced NDOP-mediated vasorelaxation. Lastly, NDOP showed low toxicity (LD50 ~5000 mg/kg). CONCLUSION: Bioactivation of NDOP involves functional XOR, and this new organic nitrate elicits vasorelaxation via NO-cGMP-PKG signaling and activation of KIR channels. Future studies should further characterize the underlying mechanism and evaluate the therapeutic benefits of chronic NDOP treatment in relevant cardiovascular disease models.
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Doadores de Óxido Nítrico/farmacologia , Óxido Nítrico/metabolismo , Nitrocompostos/farmacologia , Canais de Potássio Corretores do Fluxo de Internalização/metabolismo , Vasodilatação/efeitos dos fármacos , Vasodilatadores/farmacologia , Animais , Pressão Sanguínea/efeitos dos fármacos , Inibidores Enzimáticos/farmacologia , Feminino , Masculino , Camundongos Endogâmicos C57BL , Doadores de Óxido Nítrico/toxicidade , Nitrocompostos/toxicidade , Oxidiazóis/farmacologia , Quinoxalinas/farmacologia , Ratos Wistar , Transdução de Sinais/efeitos dos fármacos , Guanilil Ciclase Solúvel/antagonistas & inibidores , Taquicardia/induzido quimicamente , Vasodilatadores/toxicidade , Xantina Desidrogenase/metabolismoRESUMO
OBJECTIVE: To describe patient safety in the perception of nursing and medical professionals of neonatal intensive care units. METHOD: Exploratory and descriptive study with a qualitative approach, using the instrument Hospital Survey on Patient Safety Culture for data collection. Twenty-eight nursing and medical professionals of three neonatal intensive care units in the city of Florianópolis, state of Santa Catarina, participated in the study, from 2013 to 2015. Content thematic analysis was used for data analysis. RESULTS: The following categories emerged: perception and strategies for patient safety; risk factors that interfere with patient safety; challenges in the communication of errors associated with health care. CONCLUSIONS: Patient safety in the perception of professionals reflected the importance of safe care and the identification of risk factors in work conditions, predisposing to errors. Communication of risk situations, development of safety culture, and qualification are of utmost importance.
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Atitude do Pessoal de Saúde , Enfermagem de Cuidados Críticos , Unidades de Terapia Intensiva Neonatal , Neonatologistas/psicologia , Enfermeiros Neonatologistas/psicologia , Assistentes de Enfermagem/psicologia , Segurança do Paciente , Gestão da Segurança , Adulto , Barreiras de Comunicação , Humanos , Comunicação Interdisciplinar , Erros Médicos/prevenção & controle , Garantia da Qualidade dos Cuidados de Saúde , Fatores de Risco , Gestão de Riscos , Inquéritos e QuestionáriosRESUMO
Molecular diagnosis of hereditary breast and ovarian cancer (HBOC) by standard methodologies has been limited to the BRCA1 and BRCA2 genes. With the recent development of new sequencing methodologies, the speed and efficiency of DNA testing have dramatically improved. The aim of this work was to validate the use of next-generation sequencing (NGS) for the detection of BRCA1/BRCA2 point mutations in a diagnostic setting and to study the role of other genes associated with HBOC in Portuguese families. A cohort of 94 high-risk families was included in the study, and they were initially screened for the two common founder mutations with variant-specific methods. Fourteen index patients were shown to carry the Portuguese founder mutation BRCA2 c.156_157insAlu, and the remaining 80 were analyzed in parallel by Sanger sequencing for the BRCA1/BRCA2 genes and by NGS for a panel of 17 genes that have been described as involved in predisposition to breast and/or ovarian cancer. A total of 506 variants in the BRCA1/BRCA2 genes were detected by both methodologies, with a 100 % concordance between them. This strategy allowed the detection of a total of 39 deleterious mutations in the 94 index patients, namely 10 in BRCA1 (25.6 %), 21 in BRCA2 (53.8 %), four in PALB2 (10.3 %), two in ATM (5.1 %), one in CHEK2 (2.6 %), and one in TP53 (2.6 %), with 20.5 % of the deleterious mutations being found in genes other than BRCA1/BRCA2. These results demonstrate the efficiency of NGS for the detection of BRCA1/BRCA2 point mutations and highlight the genetic heterogeneity of HBOC.
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Proteína BRCA1/genética , Proteína BRCA2/genética , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Análise de Sequência de DNA/métodos , Adulto , Proteínas Mutadas de Ataxia Telangiectasia/genética , Quinase do Ponto de Checagem 2/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Feminino , Heterogeneidade Genética , Predisposição Genética para Doença , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Humanos , Pessoa de Meia-Idade , Mutação Puntual , Portugal , Sensibilidade e Especificidade , Proteína Supressora de Tumor p53/genéticaRESUMO
The majority of pathogenic mismatch repair (MMR) gene mutations detected in Lynch syndrome patients are truncating (frameshift or nonsense). However, the classification of terminal truncating mutations is sometimes difficult and predictive testing based on non-deleterious variants can have very serious consequences. Here, we report eight probands that have two germline nonsense mutations, namely MSH6 c.1030C>T, p.(Gln344Ter) and MSH2 c.2785C>T, p.(Arg929Ter), and one additional patient who presented only the MSH2 mutation previously reported as deleterious. The novel MSH6 truncating mutation was classified as deleterious, as it is predicted to encode a protein with loss of 1017 amino acid residues. The MSH2 mutation, which is expected to encode a protein lacking six amino acid residues, was considered a variant of unknown significance. Five tumors of the eight double-mutant individuals had normal MSH2 expression, whereas MSH6 immunoexpression was lost in all evaluable cases. None of the variants were detected in normal controls or associated with other MMR germline mutations in our series. This study emphasizes that not all truncating mutations are equal and that one must be cautious in the interpretation of the presumed deleterious effect of terminal frameshift or nonsense mutations.
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Códon sem Sentido , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Proteína 2 Homóloga a MutS/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Proteínas de Ligação a DNA/metabolismo , Família , Haplótipos , Humanos , Proteína 2 Homóloga a MutS/metabolismo , FenótipoRESUMO
OBJECTIVE: To identify the patient safety culture in pediatric emergencies from the perspective of the nursing team. METHOD: A quantitative, cross-sectional survey research study with a sample composed of 75 professionals of the nursing team. Data was collected between September and November 2014 in three Pediatric Emergency units by applying the Hospital Survey on Patient Safety Culture instrument. Data were submitted to descriptive analysis. RESULTS: Strong areas for patient safety were not found, with areas identified having potential being: Expectations and actions from supervisors/management to promote patient safety and teamwork. Areas identified as critical were: Non-punitive response to error and support from hospital management for patient safety. The study found a gap between the safety culture and pediatric emergencies, but it found possibilities of transformation that will contribute to the safety of pediatric patients. CONCLUSION: Nursing professionals need to become protagonists in the process of replacing the current paradigm for a culture focused on safety. The replication of this study in other institutions is suggested in order to improve the current health care scenario. OBJETIVO: Identificar a cultura de segurança do paciente em emergências pediátricas, na perspectiva da equipe de enfermagem. MÉTODO: Pesquisa quantitativa, tipo survey transversal. Amostra composta por 75 profissionais da equipe de enfermagem. Dados coletados entre setembro e novembro de 2014, em três Emergências Pediátricas, aplicando o instrumento Hospital Survey on Patient Safety Culture. Dados submetidos à análise descritiva. RESULTADOS: Não foram encontradas áreas de força para a segurança do paciente, sendo identificadas áreas com potencial de assim se tornarem: Expectativas e ações do supervisor/chefia para promoção da segurança do paciente e Trabalho em equipe. Como área crítica identificaram-se: Resposta não punitiva ao erro e Apoio da gestão hospitalar para segurança do paciente. O estudo apontou distanciamento entre a cultura de segurança e as emergências pediátricas, porém vislumbrou possibilidades de transformação, que contribuirão para segurança do paciente pediátrico. CONCLUSÃO: Os profissionais de enfermagem precisam se tornar protagonistas no processo de substituição do atual paradigma para uma cultura focada na segurança. Sugere-se replicação deste estudo em outras instituições a fim de aprimorar o atual cenário de assistência à saúde.
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Enfermagem em Emergência , Equipe de Enfermagem , Cultura Organizacional , Segurança do Paciente , Enfermagem Pediátrica , Estudos Transversais , Humanos , AutorrelatoRESUMO
Objective To analyse how therapeutic play structured in a nursing care model contributes to the care of hospitalised children. Method This is a qualitative study based on convergent care research (CCR). Seven children participated in the study. Data were collected in September and October of 2014 by means of interviews with open-end questions and participant observation of therapeutic and dramatic play sessions and/or instructional play sessions based on the stages "Welcoming/Playing/Concluding" of the nursing model Care with Play. Data were analysed according to the analysis and interpretation stages of the CCR. Results The following three categories emerged: Meanings attributed by the child to hospitalisation and its influence on nursing care; Perception of the therapeutic procedures through therapeutic play, and Importance of the family in care. Final considerations It is concluded that the application of therapeutic play structured in the care model contributes to systematic and specialised nursing care.
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Criança Hospitalizada/psicologia , Modelos de Enfermagem , Cuidados de Enfermagem/métodos , Ludoterapia , Ansiedade/prevenção & controle , Brasil , Criança , Pré-Escolar , Emoções , Feminino , Hospitais Públicos , Humanos , Infecções/psicologia , Infecções/terapia , Masculino , Comunicação não Verbal , Relações Enfermeiro-Paciente , Transtornos Respiratórios/psicologia , Transtornos Respiratórios/terapia , Estresse Psicológico/terapiaRESUMO
BACKGROUND: Although hemophilia has a potentially high economic impact, there are no published estimates of healthcare costs for this disease in Portugal. The aim of this study was to evaluate costs of treatment and hospital utilization among patients with hemophilia A and B, with and without inhibitors, over a 3-year period in a Portuguese Comprehensive Care Hemophilia Centre. This is the first study on the financial impact of healthcare costs in patients with hemophilia in Portugal. METHODS: This retrospective, observational study identified patients diagnosed with hemophilia A and B using medical and pharmacy electronic medical records and data from Centro Hospitalar São João, between January 2011 and December 2013. Patients with inhibitors were all high responders (>5 Bethesda Units [BU]). Severity was classified as mild, moderate or severe based on clotting factor levels. Two main outcomes were measured: (1) cost associated with hospital pharmacy claims (clotting factor) and (2) number of hospital visits/hospitalization. RESULTS: A cohort of 103 patients were identified: 72 (69.9 %) with hemophilia A and 31 (30.1 %) with hemophilia B. Among these, five individuals were classified as patients with inhibitors (four with hemophilia A and one with hemophilia B). From the cohort of hemophilia A patients, 36 individuals (35.0 %) were identified as having severe disease; 20 (19.4 %) moderate; and 16 (15.5 %) mild. In the cohort of hemophilia B patients, 14 (13.6 %) were identified as having severe disease; 14 (13.6 %) moderate; and three (2.9 %) mild. The total mean aggregate cost per year (including clotting factor and hospital utilization) for patients with severe hemophilia B was 112,469, compared with 793 for mild hemophilia A. Clotting factor concentrate amounted for 90 % of total cost in severe cases and hospital utilization was also higher in these cases. CONCLUSIONS: Hemophilia treatment is expensive, particularly for patients with severe disease and especially if they develop inhibitors to replacement clotting factors. In our study, severe hemophilia is associated with greater annual total costs in both types of hemophilia (A = 77,587 and B = 112,469). Patients with inhibitors have costs 3.3 times higher than patients without inhibitors. Age was not associated with significantly greater total costs (clotting factor and hospital visits/hospitalizations).
Assuntos
Coagulantes/economia , Hemofilia A/economia , Hemofilia B/economia , Hospitalização/economia , Adolescente , Adulto , Fatores de Coagulação Sanguínea/metabolismo , Criança , Coagulantes/uso terapêutico , Feminino , Custos de Cuidados de Saúde , Hemofilia A/terapia , Hemofilia B/terapia , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Portugal , Estudos Retrospectivos , Adulto JovemRESUMO
This article aims to discuss the concepts of Social Determination of Health and Social Determinants of Health, by establishing a comparison between each of their guiding perspectives and investigating their implications on the development of health policies and health actions. We propose a historical and conceptual reflection, highlighting the Theory on the Social Production of Health, followed by a debate on the concepts, with a comparative approach among them.
Assuntos
Determinantes Sociais da Saúde , HumanosRESUMO
OBJECTIVE: to map scientific evidence regarding the use of local pressure devices in pain relief during injection procedures in patients. METHODS: scoping review, following the recommendations of the JBI Manual for Evidence Synthesis and PRISMA-ScR, with searches conducted in the PubMed, EMBASE, CINAHL, LILACS, and PsycINFO databases, without temporal restrictions and with a cutoff date of March 2023. RESULTS: a total of 1,514 studies were identified, with 20 articles included in the final sample. The ShotBlocker® device was utilized during subcutaneous and intramuscular injections in children and adults, proving beneficial in reducing pain, anxiety, and fear associated with the procedure. FINAL CONSIDERATIONS: the ShotBlocker® is a low-cost, easy-to-use device that can enhance nursing clinical practice during painful procedures. However, studies involving the Brazilian Pikluc® device are scarce. Further research involving both local pressure devices is recommended.
Assuntos
Manejo da Dor , Humanos , Manejo da Dor/métodos , Manejo da Dor/normas , Pressão/efeitos adversos , Injeções/instrumentação , Injeções/métodosRESUMO
OBJECTIVE: to identify and compare the practice of Nursing professionals regarding the insertion of peripheral vascular access devices, according to professional category. METHOD: descriptive sectional study carried out between July 2021 and May 2022 with 2,584 Nursing professionals, using a questionnaire validated by three judges with expertise in intravenous therapy, containing variables related to catheterization and the vascular access device. Descriptive and inferential analysis was carried out. RESULTS: most professionals do not prepare the patient or perform some essential care before attempting peripheral intravenous catheterization. Regarding the preferred catheterization site, hands, arm and forearm stand out. There is no control over the tourniquet time, and the patient is punctured more than three times. The most used device materials are polyurethane and Teflon ® , more than one criterion is adopted for device selection, and Micropore ® type adhesive tape was the covering most cited by Nursing professionals. The identification of catheterization was not adequate. CONCLUSION: Nursing technicians and assistants are the professionals who least comply with what is recommended in recognized guidelines. Nurses' practice also presents deviations from scientific evidence.