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Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene <i>COL11A1</i>

by Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh

Multiocular defect has been described in different canine breeds, including the Old English Sheepdog. Affected dogs typically present with multiple and various ocular abnormalities. We carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with hereditary cataracts at the age of five and then referred to a board-certified veterinary ophthalmologist due to owner-reported visual deterioration. An ophthalmic assessment revealed that there was bilateral vitreal degeneration, macrophthalmos, and spherophakia in addition to cataracts. Follow-up consultations revealed cataract progression, retinal detachment, uveitis and secondary glaucoma. Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three control dogs without evidence of inherited eye disease). Only one of the twenty-two variants segregated correctly with multiocular defect. The variant is a single nucleotide substitution, located in the collagen-type gene COL11A1, c.1775T>C, that causes an amino acid change, p.Phe1592Ser. Genotyping of an additional 14 Old English Sheepdogs affected by multiocular defect revealed a dominant mode of inheritance with four cases heterozygous for the variant. Further genotyping of hereditary cataract-affected Old English Sheepdogs revealed segregation of the variant in eight out of nine dogs. In humans, variants in the COL11A1 gene are associated with Stickler syndrome type II, also dominantly inherited.

What are the features of high-performing quality improvement collaboratives? A qualitative case study of a state-wide collaboratives programme

Por: McGowan · J. G. · Martin · G. P. · Krapohl · G. L. · Campbell · D. A. · Englesbe · M. J. · Dimick · J. B. · Dixon-Woods · M.
Objectives

Despite their widespread use, the evidence base for the effectiveness of quality improvement collaboratives remains mixed. Lack of clarity about ‘what good looks like’ in collaboratives remains a persistent problem. We aimed to identify the distinctive features of a state-wide collaboratives programme that has demonstrated sustained improvements in quality of care in a range of clinical specialties over a long period.

Design

Qualitative case study involving interviews with purposively sampled participants, observations and analysis of documents.

Setting

The Michigan Collaborative Quality Initiatives programme.

Participants

38 participants, including clinicians and managers from 10 collaboratives, and staff from the University of Michigan and Blue Cross Blue Shield of Michigan.

Results

We identified five features that characterised success in the collaboratives programme: learning from positive deviance; high-quality coordination; high-quality measurement and comparative performance feedback; careful use of motivational levers; and mobilising professional leadership and building community. Rigorous measurement, securing professional leadership and engagement, cultivating a collaborative culture, creating accountability for quality, and relieving participating sites of unnecessary burdens associated with programme participation were all important to high performance.

Conclusions

Our findings offer valuable learning for optimising collaboration-based approaches to improvement in healthcare, with implications for the design, structure and resourcing of quality improvement collaboratives. These findings are likely to be useful to clinicians, managers, policy-makers and health system leaders engaged in multiorganisational approaches to improving quality and safety.

“Like fighting a fire with a water pistol”: A qualitative study of the work experiences of critical care nurses during the COVID‐19 pandemic

Abstract

Aim

To understand the experience of critical care nurses during the COVID-19 pandemic, through the application of the Job-Demand-Resource model of occupational stress.

Design

Qualitative interview study.

Methods

Twenty-eight critical care nurses (CCN) working in ICU in the UK NHS during the COVID-19 pandemic took part in semi-structured interviews between May 2021 and May 2022. Interviews were guided by the constructs of the Job-Demand Resource model. Data were analysed using framework analysis.

Results

The most difficult job demands were the pace and amount, complexity, physical and emotional effort of their work. Prolonged high demands led to CCN experiencing emotional and physical exhaustion, burnout, post-traumatic stress symptoms and impaired sleep. Support from colleagues and supervisors was a core job resource. Sustained demands and impaired physical and psychological well-being had negative organizational consequences with CCN expressing increased intention to leave their role.

Conclusions

The combination of high demands and reduced resources had negative impacts on the psychological well-being of nurses which is translating into increased consideration of leaving their profession.

Implications for the Profession and/or Patient Care

The full impacts of the pandemic on the mental health of CCN are unlikely to resolve without appropriate interventions.

Impact

Managers of healthcare systems should use these findings to inform: (i) the structure and organization of critical care workplaces so that they support staff to be well, and (ii) supportive interventions for staff who are carrying significant psychological distress as a result of working during and after the pandemic. These changes are required to improve staff recruitment and retention.

Reporting Method

We used the COREQ guidelines for reporting qualitative studies.

Patient and Public Contribution

Six CCN provided input to survey content and interview schedule. Two authors and members of the study team (T.S. and S.C.) worked in critical care during the pandemic.

Health professionals’ views of newborn pulse oximetry screening in a midwifery-led maternity setting. “It's a good thing to do, but fund it!”

Congenital heart defects in infants are the commonest congenital abnormality but even critical lesions can be difficult to identify clinically in the first days after birth during the period of physiological transition and while the ductus arteriosus remains patent (Wren et al., 2008). Accordingly, clinical assessment of newborns with congenital heart disease (CHD) within the first 24 h often yields normal findings (Abu-Harb et al., 1994; Saxena et al., 2015). Failure to make an early diagnosis of critical CHD leads to clinical compromise prior to infants receiving major surgery and is associated with increased infant mortality (Eckersley et al., 2016; Franklin et al., 2002).
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