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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Por: Lunke · S. · Bouffler · S. E. · Downie · L. · Caruana · J. · Amor · D. J. · Archibald · A. · Bombard · Y. · Christodoulou · J. · Clausen · M. · De Fazio · P. · Greaves · R. F. · Hollizeck · S. · Kanga-Parabia · A. · Lang · N. · Lynch · F. · Peters · R. · Sadedin · S. · Tutty · E. · Eggers
Introduction

Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme.

Methods and analysis

The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for over 600 severe, treatable, childhood-onset conditions. Clinically accredited whole genome sequencing will be performed following standard NBS using the same sample. High chance results will be returned by genetic healthcare professionals, with follow-on genetic and other confirmatory testing and referral to specialist services as required. The postimplementation phase will evaluate the feasibility of gNBS as the primary aim, and assess ethical, implementation, psychosocial and health economic factors to inform future service delivery.

Ethics and dissemination

This project received ethics approval from the Royal Children’s Hospital Melbourne Research Ethics Committee: HREC/91500/RCHM-2023, HREC/90929/RCHM-2022 and HREC/91392/RCHM-2022. Findings will be disseminated to policy-makers, and through peer-reviewed journals and conferences.

Validation of a web-based self-administered test for cognitive assessment in a Swedish geriatric setting

by Einar Rystedt, Jakob Morén, Johan Lindbäck, Vitor Tedim Cruz, Martin Ingelsson, Lena Kilander, Nuno Lunet, Joana Pais, Luis Ruano, Gabriel Westman

Computerized cognitive tests have the potential to cost-effectively detect and monitor cognitive impairments and thereby facilitate treatment for these conditions. However, relatively few of these tests have been validated in a variety of populations. Brain on Track, a self-administered web-based test, has previously been shown to have a good ability to differentiate between healthy individuals and patients with cognitive impairment in Portuguese populations. The objective of this study was to validate the differential ability and evaluate the usability of Brain on Track in a Swedish memory clinic setting. Brain on Track was administered to 30 patients with mild cognitive impairment/mild dementia and 30 healthy controls, all scheduled to perform the test from home after one week and after three months. To evaluate the usability, the patient group was interviewed after completion of the testing phase. Patients scored lower than healthy controls at both the first (median score 42.4 vs 54.1, p

Cognitive function and its associated factors among patients with cancer pain: a multicentre cross-sectional study in China

Por: Zhu · H. · Lin · R. · Wang · J. · Ruan · S. · Hu · T. · Lei · Y. · Ke · X. · Luo · H.
Objective

This research aimed to assess the levels of cognitive function and its contributing factors among individuals experiencing cancer pain (CP) in mainland China.

Design

A descriptive, cross-sectional study.

Setting

The investigation was undertaken within three tertiary oncology hospitals.

Participants

We included 220 hospitalised individuals who reported experiencing cancer-related pain and consented to complete the research questionnaires.

Outcome measures

The collected data encompassed sociodemographic and clinical variables, augmented by results from validated questionnaires. Cognitive impairment (CI) was evaluated using the Functional Assessment of Cancer Therapy-Cognitive (FACT-Cog) scale, with scores ranging from 0 to 148. Sleep quality, depression and anxiety were assessed through the Pittsburgh Sleep Quality Index, the Patient Health Questionnaire-9 and the Generalised Anxiety Disorder-7, respectively. A binary logistic regression model was used to identify factors associated with CI in individuals with CP.

Results

Of the 225 individuals approached, 220 (97.8%) participated in the study. The mean FACT-Cog score for those with CP was 101.29 (SD=25.24; range=25–148). The prevalence of CI among these individuals was 35.90%. Sleep quality was rated below medium in 45% of participants with CP. More than moderate pain was reported by 28.2%, with 64.6% experiencing depression and 38.6% experiencing anxiety. Increased odds of developing CI were observed in those with CP (OR 1.422, 95% CI 1.129 to 1.841), depression (OR 1.119, 95% CI 1.029 to 1.2117), anxiety (OR 1.107, 95% CI 1.005 to 1.220), advancing age (OR 1.042, 95% CI 1.013 to 1.073), poor sleep quality (OR 1.126, 95% CI 1.013 to 1.252) and a history of smoking (OR 3.811, 95% CI 1.668 to 8.707).

Conclusions

CI associated with CP is notably prevalent in China. Those older, with a smoking history, inadequate sleep, more severe pain, depression and anxiety, have a heightened risk of CI. Consequently, interventions need to be personalised, addressing these key determinants.

Tranexamic acid in patients with post-traumatic elbow stiffness: protocol for a randomised, double-blind, placebo-controlled trial investigating the effectiveness of tranexamic acid at reducing the recurrence of heterotopic ossification after open elbow a

Por: Cui · H. · Luo · G. · Wang · Y. · Luan · M. · He · K. · Ruan · J. · Li · J. · Lou · T. · Sun · Z. · Chen · S. · Yu · S. · Wang · W. · Fan · C.
Introduction

Exaggerated inflammatory response is one of the main mechanisms underlying heterotopic ossification (HO). It has been suggested that the antifibrinolytic drug tranexamic acid (TXA) can exert a significant anti-inflammatory effect during orthopaedic surgery. However, no prospective studies have yet investigated the effects of TXA on HO recurrence in patients following open elbow arthrolysis (OEA).

Methods and analysis

Here, we present a protocol for a single-centre, randomised, double-blind, placebo-controlled trial to investigate the effectiveness of TXA on HO recurrence after OEA in a single hospital. A minimum sample size of 138 eligible and consenting participants randomised into treatment and control groups in a 1:1 manner will be included. Patients will receive 2 g of intravenous TXA (experimental group) or placebo (normal saline, control group) administered before skin incision. The primary outcome is HO recurrence rate within 12 months after surgery. The secondary outcomes are the serum immune-inflammatory cytokines including erythrocyte sedimentation rate, C reactive protein, interleukin (IL)-6, IL-1β, IL-13 at the first and third day postoperatively, and elbow range of motion and functional score at 1.5, 6, 9 and 12 months after surgery. After completion of the trial, the results will be reported in accordance with the extensions of the Consolidated Standards of Reporting Trials Statement for trials. The results of this study should determine whether TXA can reduce the rates of HO occurrence after OEA.

Ethics and dissemination

Ethical approval has been granted by the Medical Ethics Committee of the Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (reference number 2022-123-(1)). The results of this study will be disseminated through presentations at academic conferences and publication in peer-reviewed journals.

Trial registration number

ChiCTR2300068106.

Radiographers’ perceptions on the quality of managing general radiographic paediatric examinations through the use of a reflective tool

by Kate Caruana, Chris Hayre, Chandra Makanjee

Introduction

Paediatric patients are a vulnerable population that require additional care by healthcare professionals. Quality managing these examinations ensures that effective and quality care is provided to individual patients, whilst encouraging consistency within the medical imaging department. This study explored radiographers’ perspectives on quality management strategies of general radiographic paediatric examinations using a paediatric imaging reflective checklist.

Methods

A quantitative descriptive research design with qualitative questions was used through a purposive sampling method from both public and private Australian diagnostic imaging qualified radiographers who had experience in paediatric imaging examinations. The paediatric imaging service reflective tool consisted of 65 items in total. Data analysis entailed Microsoft Excel version 16.16.6 and Jamovi version 2.3.21 for the closed-ended questions and for the open-ended responses a thematic analysis.

Results

The participation rate was 13.2% and the most significant findings were: lead shielding was still being used at their organisation, despite recent recommendations to suspend its use; access to paediatric patient related information resources is limited; there was no involvement of families and communities regarding policy development or quality improvement measures as advocated in literature; and there was a need for enhanced specialised paediatric education, training and protocols.

Conclusion

Using the paediatric patient-centred imaging reflective checklist, radiographers had an opportunity to identify quality improvement indicators as well as issues that could further enhance best practice principles. Further studies could inform on the validity of this reflective tool.

Understanding the patterns and health impact of indoor air pollutant exposures in Bradford, UK: a study protocol

Por: Ikeda · E. · Hamilton · J. · Wood · C. · Chatzidiakou · L. · Warburton · T. · Ruangkanit · A. · Shao · Y. · Genes · D. · Waiblinger · D. · Yang · T. C. · Giorio · C. · McFiggans · G. · O'Meara · S. P. · Edwards · P. · Bates · E. · Shaw · D. R. · Jones · R. L. · Carslaw · N. · McEachan · R.
Introduction

Relative to outdoor air pollution, there is little evidence examining the composition and concentrations of indoor air pollution and its associated health impacts. The INGENIOUS project aims to provide the comprehensive understanding of indoor air pollution in UK homes.

Methods and analysis

‘Real Home Assessment’ is a cross-sectional, multimethod study within INGENIOUS. This study monitors indoor air pollutants over 2 weeks using low-cost sensors placed in three rooms in 300 Born in Bradford (BiB) households. Building audits are completed by researchers, and participants are asked to complete a home survey and a health and behaviour questionnaire, in addition to recording household activities and health symptoms on at least 1 weekday and 1 weekend day. A subsample of 150 households will receive more intensive measurements of volatile organic compound and particulate matter for 3 days. Qualitative interviews conducted with 30 participants will identify key barriers and enablers of effective ventilation practices. Outdoor air pollution is measured in 14 locations across Bradford to explore relationships between indoor and outdoor air quality. Data will be analysed to explore total concentrations of indoor air pollutants, how these vary with building characteristics, and whether they are related to health symptoms. Interviews will be analysed through content and thematic analysis.

Ethics and dissemination

Ethical approval has been obtained from the NHS Health Research Authority Yorkshire and the Humber (Bradford Leeds) Research Ethics Committee (22/YH/0288). We will disseminate findings using our websites, social media, publications and conferences. Data will be open access through the BiB, the Open Science Framework and the UK Data Service.

Prevalence and the association between clinical factors and Diabetes-Related Distress (DRD) with poor glycemic control in patients with type 2 diabetes: A Northern Thai cross-sectional study

by Achiraya Ruangchaisiwawet, Narumit Bankhum, Krittai Tanasombatkul, Phichayut Phinyo, Nalinee Yingchankul

Background

Glycemic control is important to prevent diabetic complications. However, evidence linking factors such as diabetes-related distress (DRD) to poor glycemic outcomes is lacking in Thailand. Therefore, this study aimed to investigate the prevalence and associated factors of poor glycemic control type 2 diabetes.

Methods

A cross-sectional study was conducted on 127 type 2 diabetic patients between December 2021 and March 2022 at Maharaj Nakorn Chiang Mai Hospital, Thailand. Data collection included demographic data, clinical data (duration of being type 2 diabetes, diabetic treatment modalities, weight, height, blood pressure, FBS, and HbA1c), behavioral data (self-care behavior, physical activity, dietary assessment, smoking, alcohol consumption, and sleep quality), and psycho-social data (depression and DRD). Poor glycemic control was defined as not achieving the target HbA1c based on the 2021 American Diabetes Association (ADA) Guideline. Multivariable logistic regression was used to explore the associations between potential factors including DRD, and poor glycemic control.

Results

The prevalence of poor glycemic control in patients with type 2 diabetes was 29.1%. Our analysis revealed that age under 65 years old (OR 6.40, 95% CI 2.07–19.77, p = 0.001), obesity (BMI ≥ 25 kg/m2) (OR 2.96, 95% CI 1.05–8.39, p = 0.041), and DRD (OR 14.20, 95% CI 3.76–53.64, p Conclusion and recommendation

Age, obesity, and DRD are associated with poor glycemic control. A holistic approach that includes addressing DRD is crucial for improving glycemic outcomes in patients with type 2 diabetes. Further studies in broader populations using a cohort design are recommended.

Relationship between an ageing measure and chronic obstructive pulmonary disease, lung function: a cross-sectional study of NHANES, 2007-2010

Por: Ruan · Z. · Li · D. · Huang · D. · Liang · M. · Xu · Y. · Qiu · Z. · Chen · X.
Objectives

Chronic obstructive pulmonary disease (COPD) is a disease associated with ageing. However, actual age does not accurately reflect the degree of biological ageing. Phenotypic age (PhenoAge) is a new indicator of biological ageing, and phenotypic age minus actual age is known as phenotypic age acceleration (PhenoAgeAccel). This research aimed to analyse the relationship between PhenoAgeAccel and lung function and COPD.

Design

A cross-sectional study.

Participants

Data for the study were obtained from the National Health and Nutrition Examination Survey (NHANES) 2007–2010. We defined people with forced expiratory volume in 1 s/forced vital capacity

Primary and secondary outcome measures

Linear and logistic regression were used to investigate the relationship between PhenoAgeAccel, lung function and COPD. Subgroup analysis was performed by gender, age, ethnicity and smoking index COPD. In addition, we analysed the relationship between the smoking index, respiratory symptoms and PhenoAgeAccel. Multiple models were used to reduce confounding bias.

Results

5397 participants were included in our study, of which 1042 had COPD. Compared with PhenoAgeAccel Quartile1, Quartile 4 had a 52% higher probability of COPD; elevated PhenoAgeAccel was also significantly associated with reduced lung function. Further subgroup analysis showed that high levels of PhenoAgeAccel had a more significant effect on lung function in COPD, older adults and whites (P for interaction

Conclusions

Our study found that accelerated ageing is associated with the development of COPD and impaired lung function. Smoking cessation and anti-ageing therapy have potential significance in COPD.

Proceso de enfermería en la asistencia a pacientes en terapia de hemodiálisis

Objetivo: identificar los diagnósticos de enfermería y las intervenciones más frecuentes en la asistencia a los pacientes en hemodiálisis. Método: se realizó un estudio descriptivo, transversal, retrospectivo con un enfoque cuantitativo, realizado con 175 prontuarios de pacientes en hemodiálisis, asistidos en el servicio por un período de seis meses. Para la recolección de los datos, se utilizó la plataforma Google Forms®, generando una hoja de trabajo en Microsoft Excel®, un software que permite organizar, describir y analizar los mismos. Resultados principales: se identificaron tres diagnósticos de enfermería como más frecuentes: Riesgo de sangrado (67,2%); Riesgo de caída (56,5%) y Exceso de volumen de líquido (54,8%), en más de la mitad de los pacientes de acuerdo con los registros en los prontuarios. Las intervenciones de enfermería están dirigidas por el protocolo del procedimiento de hemodiálisis y no por los diagnósticos de enfermería. Conclusión: los diagnósticos más frecuentes se centran en las condiciones clínicas de la población estudiada, y no subvencionan las intervenciones de enfermería, que se definen con base en técnica de hemodiálisis.

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