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Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy

Por: Voi · V. · Giordano · N. · Sciannameo · V. · Sciarrone · A. · Sbaiz · L. · Barberis · M. · Curcio · C. · Irrera · M. A. · Roetto · A. · Piga · A. · Giachino · D. F. · Mandrile · G.
Objectives

To analyse demographic trends and decision-making patterns regarding prenatal diagnosis (PND) in couples at risk for hereditary haemoglobinopathies at the Thalassemia and Rare Haematological Disease Centre in Turin over a 40-year period.

Design

Retrospective observational study analysing demographic and clinical data from 1983 to 2023.

Setting

Tertiary care genetic service Centre in Orbassano (TO), Northern Italy.

Participants

Couples seeking genetic counselling and PND for hereditary haemoglobinopathies. Selection criteria included couples at risk of having children affected by β-thalassaemia major or Sickle Cell Disease (SCD).

Main outcome measures

Primary outcomes included acceptance rates of PND and pregnancy termination (TOP). Variables analysed included couples’ age at first consultation, age at first PND, birthplace, employment status, specific haemoglobinopathy risk and number of pregnancies.

Results

The analysis identified three main factors influencing PND and TOP decisions: nationality, type of haemoglobinopathy risk and number of previous pregnancies. Age showed no significant correlation with decision-making patterns. The impact of education level and employment status could not be definitively determined due to unavailable or unfit data.

Conclusions

The 40-year analysis of prenatal diagnosis for haemoglobinopathies in Turin shows evolving trends influenced by immigration patterns, improved medical treatments and cultural factors, leading to increased acceptance of affected pregnancies in recent years, particularly after 2015, due to better disease management and comprehensive healthcare support. This comprehensive analysis of our centre’s experience provides valuable insights that can serve as a model for similar institutions worldwide in supporting couples through carrier screening and PND processes.

Moral Resilience Is Distinct From General Resilience When Predicting Burnout Among Interprofessional Health Care Workers: Secondary Analysis

ABSTRACT

Introduction

Burnout, a form of moral suffering, has become more commonplace among health care workers in recent years. Measures of general resilience have been widely used to capture improvement in burnout but lack the ability to capture the anguish that comes with burnout from a moral standpoint. The purpose of this analysis was to understand whether moral resilience is uniquely related to burnout beyond a measure of general resilience in a sample of interprofessional health care workers.

Design

Secondary analysis of cross-sectional survey data.

Methods

In total, 702 interprofessional health care workers participated in a cross-sectional survey. Key measures included the Rushton Moral Resilience Scale (RMRS), the Connor-Davidson Resilience Scale (CD-RISC-10), and the Maslach Burnout Inventory-Human Services Survey (MBI-HSS). Hierarchical multiple regression modeling was used to examine the effect of moral resilience (RMRS) in predicting the three dimensions of burnout (MBI-HSS) over and above general resilience (CD-RISC-10).

Results

Moral resilience explained five, six, and 4% of variance for personal accomplishment, depersonalization, and emotional exhaustion, respectively, after accounting for general resilience (CD-RISC-10) and all covariates.

Conclusions

Findings highlight the clear conceptual differences between general and moral resilience and their unique relationship to burnout. Accounting for moral resilience will facilitate an improved multi-level response to moral suffering among health care workers.

Clinical Relevance

Measuring and understanding the differences between general resilience and moral resilience is vital for us to better facilitate the necessary support(s) for health care workers experiencing moral suffering. This will contribute to more sustainable clinical environments, reduced burnout and suffering, and improved patient outcomes.

Longitudinal Fatigue Symptoms and Inflammatory Markers in African American Adults With Hypertension and Obstructive Sleep Apnea

imageBackground There is a dearth of research inclusive of African American adults living with obstructive sleep apnea (OSA) despite differences in symptom presentations compared to non-Hispanic White patient populations. Less is known regarding the potential effect of comorbidities, including hypertension, on commonly reported symptoms, such as fatigue, and their association with inflammatory biomarkers. Objective This longitudinal pilot study aimed to characterize fatigue symptom presentations among African American adults newly diagnosed with OSA and discern peripheral blood analytes linked to symptoms while accounting for co-occurring hypertension. Methods African American adults newly diagnosed with OSA with and without co-occurring hypertension were approached by study staff and recruited following their diagnostic visit with sleep medicine clinicians at two health systems and followed over 6 months after commencing continuous positive airway pressure treatment. Patient-Reported Outcomes Measurement Information System Fatigue surveys and plasma were collected every 3 months from 29 participants. Mixed-effects models examined changes in fatigue symptom presentations over time while accounting for plasma-based analytes and hypertension status. Results Despite higher fatigue symptom severity upon diagnosis, participants with co-occurring hypertension reported greater improvements in fatigue scores after commencing continuous positive airway pressure treatment for up to 6 months than those without hypertension. Inverse correlations were observed between fatigue scores, C-reactive protein, matrix metalloproteinase-8, and osteoprotegerin analyte levels among participants with/without hypertension. Across all participants, changes in interleukin-6 were associated with changes in fatigue scores in the first 3 months after diagnosis. Discussion Findings indicate that hypertension is linked to increased fatigue upon diagnosis of OSA in this sample of African American adults. Fatigue in persons with hypertension improved after treatment in this sample. These hypothesis-generating findings can inform future interventional studies aimed at improving fatigue among persons with OSA while leveraging markers linked to fatigue symptom severity as potential objective markers of improvements. Further research on the role of inflammatory markers, such as IL-6, on fatigue symptom presentations is warranted in persons with OSA.

Reliability and Validity of Measures Commonly Utilized to Assess Nurse Well-Being

imageBackground A healthy nursing workforce is vital to ensuring that patients are provided quality care. Assessing nurses' well-being and related factors requires routine evaluations from health system leaders that leverage brief psychometrically sound measures. To date, measures used to assess nurses' well-being have primarily been psychometrically tested among other clinicians or nurses working in specific clinical practice settings rather than in large, representative, heterogeneous samples of nurses. Objectives This study aimed to psychometrically test measures frequently used to evaluate factors linked to nurse well-being in a heterogeneous sample of nurses within a large academic health system. Methods This cross-sectional, survey-based study used a convenience sample of nurses working across acute care practice settings. A total of 177 nurses completed measures, which included the Professional Quality of Life, the short form of the Professional Quality of Life measure, the two-item Connor–Davidson Resilience Scale, the five-item World Health Organization Well-Being Index, the Secondary Traumatic Stress Scale, and the single-item Mini-Z. Internal reliability and convergent validity were assessed for each measure. Results All the measures were found to be reliable. Brief measures used to assess domains of well-being demonstrated validity with longer measures, as evident by significant correlation coefficients. Discussion This study provides support for the reliability and validity of measures commonly used to assess well-being in a diverse sample of nurses working across acute care settings. Data from routine assessments of the nursing workforce hold the potential to guide the implementation and evaluation of interventions capable of promoting workplace well-being. Assessments should include psychometrically sound, low-burden measures, such as those evaluated in this study.
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