Influencia de la redación de la prescripción médica en la administración de medicamentos en horarios diferentes al prescripto

OBJETIVO: Analisar a influência da redação da prescrição médica na administração de medicamentos em horários diferentes do prescrito ocorridas em unidades de clínica médica de cinco hospitais brasileiros. MÉTODOS: Trata-se de estudo descritivo que utilizou dados secundários obtidos de uma pesquisa multicêntrica realizada em 2005. A amostra foi composta por 1084 doses de medicamentos administradas em horários diferentes do prescrito. RESULTADOS: Do total analisado, 96,2% apresentavam siglas e/ou abreviaturas; 7,8% apresentavam o registro do horário de administração incompleto e 4,8% destes registros estavam rasurados. Ainda, faltou o horário e/ou a freqüência de administração em 1,9% das prescrições. CONCLUSÃO: Com a implantação do sistema computadorizado de prescrições, associada à prática da educação permanente será possível minimizar a administração de medicamentos em horários diferentes do prescrito.OBJECTIVE: To evaluate the influence of the writing of medical orders on the administration of medications in medical units from five brazilian hospitals. METHODS: This descriptive study used a secondary analysis of data from a multicenter study conducted in 2005. the sample consisted of 1,084 medication orders that had been administered at the wrong schedule time. RESULTS: The great majority of medical orders (96.2%) had acronyms and/or abbreviations, 7.8% of them had incomplete schedules for administration of the medication, and 4.8% had been marked out. in addition, there was no schedule for the administration of the medication in 1.9% of the medical orders. CONCLUSION: Implementation of electronic prescribing and continuing education of health care providers can minimize the administration of medication at the wrong schedule time.OBJETIVO: Analizar la influencia de la redacción de la prescripción médica en la administración de medicamentos en horarios diferentes al prescripto ocurridas en unidades de clínica médica de cinco hospitales brasileños. MÉTODOS: Se trata de un estudio descriptivo que utilizó datos secundarios obtenidos de una investigación multicéntrica realizada en el 2005. La muestra estuvo compuesta por 1084 dosis de medicamentos administradas en horarios diferentes al prescripto. RESULTADOS: Del total analizado, el 96,2% presentaba siglas y/o abreviaturas; el 7,8% presentaba el registro del horario de administración incompleto y el 4,8% de estos registros estaban borrados. Aun más, faltó el horario y/o la frecuencia de administración en el 1,9% de las prescripciones. CONCLUSIÓN: Con la implantación del sistema computarizado de prescripciones, asociada a la práctica de la educación permanente será posible minimizar la administración de medicamentos en horarios diferentes al prescripto

Development of a questionnaire on nutritional knowledge for the obese hospitalized patient: the NUTRIKOB questionnaire

IntroductionDifferent approaches, involving different areas and figures, are useful for the rehabilitation of obese subjects through a multidisciplinary hospital path. A focal point of rehabilitation is represented by education on healthy eating by increasing the dietary knowledge patients. Few tools investigating food knowledge are available in Italy: therefore, the need has emerged to develop easy-to-use tools for clinical practice that allow to detect food knowledge to set up a more targeted food re-education. The following work aimed at building and validating a questionnaire capable of investigating the dietary knowledge of the population affected by obesity.MethodsA pool of experts carried out a review of the literature, gathering all the information necessary to select and construct the best set of questions and the format of the final project of the questionnaire. During statistical analysis the validity, reproducibility and stability of the questionnaire were investigate in a sample of 450 subjects with obesity.ResultsEarly analysis disclosed that 5 questions of the original questionnaire had no discriminating power. The successive validation phases were successful, confirming good content validity, stability and reproducibility over time.DiscussionThe questionnaire has all the characteristics to be considered a valid tool for investigating dietary knowledge in the obese population. The psychometric tests confirmed a good internal consistency of the structure, a validity of the content, a good reproducibility and stability over time

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated families with intellectual disability (ID) and a novel pathogenic SMG9 c.551 T > C p.(Val184Ala) homozygous missense variant, identified using exome sequencing. Sanger sequencing confirmed recessive segregation in each family. SMG9 c.551T > C p.(Val184Ala) is most likely an autozygous variant identical by descent. Characteristic clinical findings in patients were mild to moderate ID, intention tremor, pyramidal signs, dyspraxia, and ocular manifestations. We used RNA sequencing of patients and age- and sex-matched healthy controls to assess the effect of the variant. RNA sequencing revealed that the SMG9 c.551T > C variant did not affect the splicing or expression level of SMG9 gene products, and allele-specific expression analysis did not provide evidence that the nonsense mRNA-induced NMD was affected. Differential gene expression analysis identified prevalent upregulation of genes in patients, including the genes SMOX, OSBP2, GPX3, and ZNF155. These findings suggest that normal SMG9 function may be involved in transcriptional regulation without affecting nonsense mRNA-induced NMD. In conclusion, we demonstrate that the SMG9 c.551T > C missense variant causes a neurodevelopmental disorder and impacts gene expression. NMD components have roles beyond aberrant mRNA degradation that are crucial for neurocognitive development.Peer reviewe

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five different biallelic P4HTM variants, including three novel variants. We describe two Finnish enriched pathogenic P4HTM variants and demonstrate that these variants are embedded within founder haplotypes. We review the clinical data from all previously published patients with HIDEA and characterize all reported P4HTM pathogenic variants associated with HIDEA in silico. All known pathogenic variants in P4HTM result in either premature stop codons, an intragenic deletion, or amino acid changes that impact the active site or the overall stability of P4H-TM protein. In all cases, normal P4H-TM enzyme function is expected to be lost or severely decreased. This report expands knowledge of the genotypic and phenotypic spectrum of the disease.publishedVersio

Genetic determinants in a critical domain of ns5a correlate with hepatocellular carcinoma in cirrhotic patients infected with hcv genotype 1b

HCV is an important cause of hepatocellular carcinoma (HCC). HCV NS5A domain‐1 interacts with cellular proteins inducing pro‐oncogenic pathways. Thus, we explore genetic variations in NS5A domain‐1 and their association with HCC, by analyzing 188 NS5A sequences from HCV genotype‐1b infected DAA‐naïve cirrhotic patients: 34 with HCC and 154 without HCC. Specific NS5A mutations significantly correlate with HCC: S3T (8.8% vs. 1.3%, p = 0.01), T122M (8.8% vs. 0.0%, p < 0.001), M133I (20.6% vs. 3.9%, p < 0.001), and Q181E (11.8% vs. 0.6%, p < 0.001). By multivariable analysis, the presence of >1 of them independently correlates with HCC (OR (95%CI): 21.8 (5.7–82.3); p < 0.001). Focusing on HCC‐group, the presence of these mutations correlates with higher viremia (median (IQR): 5.7 (5.4–6.2) log IU/mL vs. 5.3 (4.4–5.6) log IU/mL, p = 0.02) and lower ALT (35 (30–71) vs. 83 (48–108) U/L, p = 0.004), suggesting a role in enhancing viral fitness without affecting necroinflammation. Notably, these mutations reside in NS5A regions known to interact with cellular proteins crucial for cell‐cycle regulation (p53, p85‐PIK3, and β‐ catenin), and introduce additional phosphorylation sites, a phenomenon known to ameliorate NS5A interaction with cellular proteins. Overall, these results provide a focus for further investigations on molecular bases of HCV‐mediated oncogenesis. The role of these NS5A domain‐1 mutations in triggering pro‐oncogenic stimuli that can persist also despite achievement of sustained virological response deserves further investigation

Fatality rate and predictors of mortality in an Italian cohort of hospitalized COVID-19 patients

Clinical features and natural history of coronavirus disease 2019 (COVID-19) differ widely among different countries and during different phases of the pandemia. Here, we aimed to evaluate the case fatality rate (CFR) and to identify predictors of mortality in a cohort of COVID-19 patients admitted to three hospitals of Northern Italy between March 1 and April 28, 2020. All these patients had a confirmed diagnosis of SARS-CoV-2 infection by molecular methods. During the study period 504/1697 patients died; thus, overall CFR was 29.7%. We looked for predictors of mortality in a subgroup of 486 patients (239 males, 59%; median age 71 years) for whom sufficient clinical data were available at data cut-off. Among the demographic and clinical variables considered, age, a diagnosis of cancer, obesity and current smoking independently predicted mortality. When laboratory data were added to the model in a further subgroup of patients, age, the diagnosis of cancer, and the baseline PaO2/FiO2 ratio were identified as independent predictors of mortality. In conclusion, the CFR of hospitalized patients in Northern Italy during the ascending phase of the COVID-19 pandemic approached 30%. The identification of mortality predictors might contribute to better stratification of individual patient risk

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements