RESUMO
Neuroblastoma (NB) is a heterogeneous childhood cancer with a slightly higher incidence in boys than girls, with the reason for this gender disparity unknown. Given the growing evidence for the involvement of loss of the Y chromosome (LoY) in male diseases including cancer, we investigated Y chromosome status in NB. Male NB tumor samples from a Swedish cohort, analyzed using Cytoscan HD SNP-microarray, were selected. Seventy NB tumors were analyzed for aneuploidy of the Y chromosome, and these data were correlated with other genetic, biological, and clinical parameters. LoY was found in 21% of the male NB tumors and it was almost exclusively found in those with high-risk genomic profiles. Furthermore, LoY was associated with increased age at diagnosis and enriched in tumors with 11q-deletion and activated telomere maintenance mechanisms. In contrast, tumors with an MYCN-amplified genomic profile retained their Y chromosome. The understanding of LoY in cancer is limited, making it difficult to conclude whether LoY is a driving event in NB or function of increased genomic instability. Gene expression analysis of Y chromosome genes in male NB tumors showed low expression of certain genes correlating with worse overall survival. KDM5D, encoding a histone demethylase stands out as an interesting candidate for further studies. LoY has been shown to impact the epigenomic layer of autosomal loci in nonreproductive tissues, and KDM5D has been reported as downregulated and/or associated with poor survival in different malignancies. Further studies are needed to explore the mechanisms and functional consequences of LoY in NB.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 11 , Cromossomos Humanos Y , Neuroblastoma , Humanos , Neuroblastoma/genética , Neuroblastoma/patologia , Masculino , Cromossomos Humanos Y/genética , Cromossomos Humanos Par 11/genética , Lactente , Pré-Escolar , Feminino , Homeostase do Telômero/genética , Criança , Histona Desmetilases/genética , Telômero/genética , Proteína Proto-Oncogênica N-Myc/genética , Suécia/epidemiologiaRESUMO
This study utilized digital PCR to quantify HBV RNA and HBV DNA within three regions of the HBV genome. Analysis of 75 serum samples from patients with chronic infection showed that HBV RNA levels were higher in core than in S and X regions (median 7.20 vs. 6.80 and 6.58 log copies/mL; p < .0001), whereas HBV DNA levels showed an inverse gradient (7.71 vs. 7.73 and 7.77 log copies/mL, p < .001). On average 80% of the nucleic acid was DNA by quantification in core. The core DNA/RNA ratio was associated with viral load and genotype. In individual patients, the relations between RNA levels in core, S and X were stable over time (n = 29; p = .006). The results suggest that pregenomic RNA is completely reverse transcribed to minus DNA in ≈75% of the virus particles, whereas the remaining 25% contain both RNA and DNA of lengths that reflect variable progress of the polymerase.
Assuntos
DNA Viral , Vírus da Hepatite B , Hepatite B Crônica , RNA Viral , Carga Viral , Vírus da Hepatite B/genética , Humanos , DNA Viral/sangue , RNA Viral/sangue , Hepatite B Crônica/sangue , Hepatite B Crônica/virologia , Masculino , Feminino , Genótipo , Adulto , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease affecting millions of people worldwide. Hereditary susceptibility and environmental factors contribute to disease risk. Infection with Epstein-Barr virus (EBV) and human herpesvirus 6A (HHV-6A) have previously been associated with MS risk. Other neurotropic viruses, such as rubella virus (RV), are possible candidates in MS aetiopathogenesis, but previous results are limited and conflicting. METHODS: In this nested case-control study of biobank samples in a Swedish cohort, we analysed the serological response towards RV before the clinical onset of MS with a bead-based multiplex assay in subjects vaccinated and unvaccinated towards RV. The association between RV seropositivity and MS risk was analysed with conditional logistic regression. RESULTS: Seropositivity towards RV was associated with an increased risk of MS for unvaccinated subjects, even when adjusting for plausible confounders including EBV, HHV-6A, cytomegalovirus and vitamin D (adjusted odds ratio [AOR] = 4.0, 95% confidence interval [CI] 1.8-8.8). Cases also had stronger antibody reactivity towards rubella than controls, which was not seen for other neurotropic viruses such as herpes simplex or varicella zoster. Furthermore, we observed an association between RV seropositivity and MS in vaccinated subjects. However, this association was not significant when adjusting for the aforementioned confounders (AOR = 1.7, 95% CI 1.0-2.9). CONCLUSIONS: To our knowledge, these are the first reported associations between early RV seropositivity and later MS development. This suggests a broadening of the virus hypothesis in MS aetiology, where molecular mimicry between rubella epitopes and human central nervous system molecules could be an attractive possible mechanism.
RESUMO
BACKGROUND: Mental health problems among older people are large public health concerns but often go unrecognized and undertreated. During COVID - 19 several restrictions regarding social contacts were launched, primarily for the old. The objective of this study is to investigate which factors that had the main negative affect on mental health in the older population during the pandemic. METHOD: A cross-sectional cohort study set in Swedish primary care during the pandemic years 2021-2022. The population constitutes of 70-80-years-old, N = 260. Instruments used are Geriatric depression scale 20 (GDS20); Hospital anxiety and depression scale (HADS), and Perceived stress scale 10 (PSS10). Sociodemography and risk factors are explored. Outcome measures are factors independently associated with decreased mental health. Analyses were performed for the group as a whole and with logistic regression models comparing individuals who stated they were mentally affected by the pandemic to individuals who stated they were not. RESULTS: Participants who stated they were mentally affected by the COVID - 19 pandemic reported significantly higher levels of anxiety (p < 0.001), depression (p < 0.001), and stress (p = 0.026) compared to those who stated they were not mentally affected. Explanatory regression models of up to 50% showed that following factors were prominent among individuals who reported a decline in their mental health due to the COVID - 19 pandemic (n = 24); impaired social life (OR 20.29, p < 0.001, CI 4.53-90.81), change in physical activity (OR 5.28, p = 0.01, CI 1.49-18.72), perceived family situation (OR 31.90, p = 0,007, CI 2,53-402.42), mild/moderate and high anxiety (OR 4.94, p = 0.034, CI 1.13-21.60, OR 7.96, p = 0.035, CI 1.16-54.53 respectively), and female gender (OR 6.52, p = 0.029, CI 1.22-34.92). CONCLUSION: Anxiety, family situation, social life and change in physical activity were the main factors influencing the 70-80-years-old's self-perceived mental health during the COVID - 19 pandemic. Long-term effects of social restrictions on mental health in the older population need to be further investigated.
Assuntos
COVID-19 , Testes Psicológicos , Autorrelato , Humanos , Feminino , Idoso , Idoso de 80 Anos ou mais , COVID-19/epidemiologia , Estudos Transversais , Pandemias , Saúde MentalRESUMO
BACKGROUND: A person's sense of coherence (SoC) is likely to affect coping when exposed to a life changing event like the COVID -19 pandemic, which impacted the older population especially hard, an age group that already suffers from a lot of mental illness. Thus, the aim of this study was to investigate the associations between SoC and mental health in older adults using both screening scales and hair cortisol concentrations (HCC). METHOD: A cross-sectional design studying a cohort of 70-80 years old, N = 260, set in Swedish primary care during the pandemic years 2021-2022. Instruments used are sense of coherence 13 (SoC-13), EQ-5D-3L, Geriatric depression scale 20 (GDS-20), Hospital anxiety and depression scale (HADS), and Perceived stress scale 10 (PSS-10). Sociodemography and factors concerning SoC, and mental health are explored. HCC are measured using radioimmunoassay. Outcome measures are factors independently associated with SoC. Linear regression models were performed with SoC as dependent variable, and priory path analyses explored whether associations with SoC were direct, or indirect via anxiety. RESULTS: SoC was significantly associated with anxiety (p < 0.001), perceived economic status (p = 0.003), belief in the future (p = 0.001), and perceived negative mental effect from the COVID -19 pandemic (p = 0.002). The latter was 96% indirectly associated with SoC (p < 0.001), whereas perceived economic status together with belief in the future was 82% directly associated with SoC (p = 0.17). HCC and sex were not significantly associated with SoC, but, noticeably, high HCC was equally distributed between women and men. Women reported significantly lower quality of life (p = 0.03), and more symptoms of anxiety (p = 0.001) and depression (p < 0.001). CONCLUSION: Anxiety, belief in the future, perceived negative effect on mental health due to the pandemic, and perceived economic status were significantly associated with SoC. Anxiety is suggested to be important in explaining the association between perceived negative mental effect from the COVID-19 pandemic and SoC. Women reported significantly poorer mental health and life quality than men.
Assuntos
COVID-19 , Cabelo , Hidrocortisona , Saúde Mental , Senso de Coerência , Humanos , COVID-19/psicologia , COVID-19/epidemiologia , Estudos Transversais , Masculino , Idoso , Cabelo/química , Feminino , Hidrocortisona/análise , Hidrocortisona/metabolismo , Idoso de 80 Anos ou mais , Suécia/epidemiologia , Ansiedade/epidemiologia , Depressão/epidemiologia , Depressão/psicologiaRESUMO
This study investigates the reading performance of younger students with intellectual disabilities to gain insight into their needs in reading education. Participants were 428 students in Grades 1 to 3 in Sweden. They performed LegiLexi tests measuring pre-reading skills, decoding and reading comprehension based on the model of Simple View of Reading. Results demonstrate a great variation in reading acquisition among students. Some students are able to decode single words and read shorter texts with comprehension already in Grade 1. Other students still struggle with learning letters and developing phonological awareness in Grade 3. According to their longitudinal data over grades, results show that most students progress in pre-reading skills, decoding, and reading comprehension. Hence, assessing reading skills among students with intellectual disabilities in Grades 1-3 using tools aligned with the Simple View of Reading seems applicable and informative for teachers. This study underscores the significance of informed instructional practices for empowering these students in reading education.
Assuntos
Deficiência Intelectual , Leitura , Estudantes , Humanos , Suécia , Masculino , Feminino , Criança , CompreensãoRESUMO
AIM: Writing is a multifaceted skill involving planning, transcription, and revision that is challenging for students with intellectual disabilities. Some studies have examined reading abilities. However, there needs to be more research on writing proficiency in this population. Especially concerning writing with the assistance of technologies such as speech-to-text (STT). To contribute to filling the research gap, this study aimed to investigate whether tailored speech-to-text interventions enhance text production for students with intellectual disabilities. METHODS: The research utilised a single-subject design involving the participation of four students (three girls and one boy) aged 10-13 years with mild intellectual disabilities in a rural municipality in Sweden. RESULTS: The results of this study revealed significant improvement post-intervention for all four students in word, sentence and text qualities. CONCLUSIONS: The findings suggest that STT offers a valuable tool for students with intellectual disabilities struggling with handwriting, providing new opportunities for self-expression. Pedagogical implications are discussed.
This study investigates speech-to-text technology for students with intellectual disabilities. Previous research on writing among students with intellectual disabilities is very limited and almost missing with the support of assistive technology such as speech-to-text.The results show improvements for all participants.Speech-to-text technology appears to be valuable for enhancing text production among students with intellectual disabilities.
RESUMO
Intensive care unit-acquired infections are complicating events in critically ill patients. In this study we analyzed the incidence, microbiological patterns, and outcome in patients with COVID-19 versus influenza in the intensive care unit (ICU). We included all adult patients treated with invasive mechanical ventilation due to (1) COVID-19 between January 2020 and March 2022, and (2) influenza between January 2015 and May 2023 at Sahlgrenska University Hospital, Sweden. Of the 480 participants included in the final analysis, 436 had COVID-19. The incidence rates of ICU-acquired infections were 31.6/1000 and 9.9/1000 ICU-days in the COVID-19 and influenza cohorts, respectively. Ventilator-associated lower respiratory tract infections were most common in both groups. In patients with COVID-19, corticosteroid treatment was associated with an increased risk of ICU-acquired infections and with higher 90-day mortality in case of infection. Furthermore, ICU-acquired infection was associated with a prolonged time in the ICU, with more difficult-to-treat gram-negative infections in late versus early ventilator-associated lower respiratory tract infections. Further research is needed to understand how the association between corticosteroid treatment and incidence and outcome of ICU-acquired infections varies across different patient categories.
Assuntos
COVID-19 , Infecção Hospitalar , Influenza Humana , Unidades de Terapia Intensiva , Humanos , COVID-19/complicações , COVID-19/epidemiologia , COVID-19/mortalidade , Influenza Humana/epidemiologia , Influenza Humana/complicações , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Incidência , Infecção Hospitalar/epidemiologia , Suécia/epidemiologia , SARS-CoV-2/isolamento & purificação , Respiração Artificial , Adulto , Corticosteroides/uso terapêutico , Corticosteroides/efeitos adversos , Pneumonia Associada à Ventilação Mecânica/epidemiologia , Pneumonia Associada à Ventilação Mecânica/tratamento farmacológico , Estado Terminal , Idoso de 80 Anos ou maisRESUMO
Studies report that speech-to-text applications (STT) may support students with writing difficulties in text production. However, existing research is sparse, shows mixed results, and lacks information on STT interventions and their applicability in schools. Therefore, this study aimed to investigate whether a systematic and intensive assistive technology intervention focusing on STT can improve text production. A modified multiple-baseline across-subject design was used involving eight middle school students, four Norwegian and four Swedish. Their STT-produced narrative texts were collected during and after the intervention and the productivity, accuracy, and text quality were analysed. Keyboarding was the baseline control condition. The results demonstrated that seven of the eight students increased text productivity and that the proportion of word-level accuracy was maintained or improved. The use of punctuation progressed in participants with poor baseline skills. Most students' STT-produced texts had at least a similar ratio of meaningfulness and text quality as keyboarding. However, the magnitude of the changes and development patterns varied, with three students showing the most notable impacts. In conclusion, this study's intervention seemed beneficial in initially instructing STT, and the progress monitoring guided individually adapted future interventions such as balancing productivity and formal language aspects. Removing the spelling barrier with STT provided an opportunity for students to improve their higher-order skills, such as vocabulary diversity and overall text quality. Furthermore, visible progress, such as the ability to produce longer texts, might motivate continued STT usage. However, such development may not always be immediate.
Speech-to-text (STT) may be an effective tool for developing text production in students with severe reading and writing difficulties. For example, enhanced text length can provide teachers with more material for feedback, guiding students towards improved text production.Text-to-speech may further enhance the usefulness of STT in text production by facilitating the revision process through listening to produced sentences and texts.By continuously monitoring students' STT usage and text production, teachers can tailor the content for further interventions to address individual needs such as sentence construction and text planning.Early STT intervention seems beneficial, allowing more time to practise advanced skills in text production when bypassing spelling.