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A novel splice-site <i>FHOD3</i> founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

by Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl

Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy (HCM). However, information on founder variants in non-sarcomeric protein genes, such as FHOD3, which have only recently been associated with HCM, remains scarce. In this study, we conducted a retrospective analysis of exome sequencing data of 134 probands with HCM for recurrent pathogenic variants. We discovered a novel likely pathogenic variant c.1646+2T>C in FHOD3 in heterozygous state in eight probands with HCM and confirmed its presence in seven additional relatives. Individuals with this variant had a wide range of ages at onset of the disease (4–63 years). No adverse cardiac events were observed. Haplotype analysis revealed that the individuals with this variant shared a genomic region of approximately 5 Mbp surrounding the variant, confirming the founder effect of the variant. FHOD3 c.1646+2T>C is estimated to have arisen 58 generations ago (95% CI: 45–81) in a common ancestor living on the Balkans. A founder FHOD3 c.1646+2T>C variant is the second most common genetic variant in our cohort of patients with HCM, occurring in 16% of probands with a known genetic cause of HCM, which represents a substantially higher proportion than the currently estimated 0.5–2% for causal FHOD3 variants. Our study broadens the understanding of the genetic causes of HCM and may improve the diagnosis of this condition, particularly in patients from the Balkans.

Impact of the COVID-19 pandemic on the cost of chronic diseases treatment and care at public hospitals in Wallaga zones, Oromia Regional State, Ethiopia: a hospital-based, cross-sectional study

Por: Terefa · D. R. · Tesfaye · E. · Tolessa · B. E. · Desisa · A. E. · Olani · W. · Fetensa · G. · Chego · M. · Abdisa · E. · Turi · E. · Bekuma · T. T. · Getachew · M. · Tesfaye · L. · Tilahun · T.
Objective

Globally, around one-third of the population has at least one long-term health condition that could be affected by the COVID-19 pandemic. Despite the fact that studies have revealed the direct impact of COVID-19 on healthcare provision and utilisation, the impact of the pandemic on the cost of chronic disease treatment and care from a patient perspective was scanty. So, the study aimed to determine the impact of the COVID-19 pandemic on cost of chronic diseases treatment and care at public hospitals in Wallaga zones, Oromia Regional State, Ethiopia, from 1 August to 31 August 2020.

Methods

An institutional-based cross-sectional study design was used, and the sample size for the study (n=642) was determined using a single population mean formula. Data were collected using interviews and analysed using SPSS V.25. Descriptive statistics were performed, and the cost of follow-up care before and after the pandemic was compared using a related-samples Wilcoxon signed-rank test, declaring the level of significance of the median cost difference at p

Results

A total of 642 patients were included in the study, of whom 605 (94.2%) responded to the interviews. There was a significant median cost difference (n=593, Z=5.05, p=0.001) between the cost of chronic diseases among follow-up patients during the pandemic and the costs incurred by these patients before the pandemic.

Conclusion

The cost of follow-up care among chronic disease patients during the COVID-19 pandemic was significantly higher compared with before the pandemic era. Therefore, healthcare providers should arrange special fee waiver mechanisms for chronic disease healthcare costs during such types of pandemics and provide the services at proximal health facilities.

Elección del material de cura según las características del lecho de la herida empleando el método TIME

Las úlceras por presión y las heridas crónicas son dos de las patologías más tratadas por el personal de enfermería en las salas de curas de atención primaria, especializada y atención domiciliaria. La correcta elección del material de cura es uno de los factores clave en el abordaje de estas lesiones. El objetivo de este artículo es brindar a los profesionales de enfermería de una herramienta para realizar la elección del material de cura basándose en su principio más básico: la situación del lecho de la herida.

Para ello, se han revisado los protocolos de cura de heridas de los principales sistemas de salud y sociedades científicas, y se han elaborado un diagrama que categoriza los lechos de las heridas en 16 tipologías basadas en la clasificación TIME y ofrece 13 combinaciones de apósitos y productos de cura.

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