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AIM: The Newborn Individualised Developmental Care and Assessment Program (NIDCAP) is an intervention and education programme that uses developmental observation for multidisciplinary healthcare professionals (HCP) caring for high-risk infants and families. Infants prosper with the ongoing co-regulation process of infant and family that is influenced by the physical and social environment. METHODS: The Template for Intervention Description and Replication (TIDieR) Guidelines were applied to the NIDCAP intervention. The estimation of the individual infant's current goals is described from direct observation of behaviour in the context of ongoing care delivery. The infant's behaviour guides all caregivers to articulate current strengths and functioning for the development of individualised plans of care and support. The NIDCAP Nursery Program supports the full integration of NIDCAP into the healthcare system. RESULTS: NIDCAP is a system-based, process-oriented, attuned and responsive intervention for individualised developmental care for infants and families. Evidence shows NIDCAP significantly improves medical outcomes, with less time on the ventilator, improved weight gain, decreased length of stay, improved developmental outcomes and enhanced infant and family relationships. Evidence suggests that NIDCAP as an intervention improves parental competence, decreases stress for HCP teams and improves HCP satisfaction. CONCLUSION: NIDCAP improves outcomes for infants and families requiring hospital care.
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Dorsal interneurons (dIs) in the spinal cord encode the perception of touch, pain, heat, itchiness and proprioception. Previous studies using genetic strategies in animal models have revealed important insights into dI development, but the molecular details of how dIs arise as distinct populations of neurons remain incomplete. We have developed a resource to investigate dI fate specification by combining a single-cell RNA-Seq atlas of mouse embryonic stem cell-derived dIs with pseudotime analyses. To validate this in silico resource as a useful tool, we used it to first identify genes that are candidates for directing the transition states that lead to distinct dI lineage trajectories, and then validated them using in situ hybridization analyses in the developing mouse spinal cord in vivo. We have also identified an endpoint of the dI5 lineage trajectory and found that dIs become more transcriptionally homogeneous during terminal differentiation. This study introduces a valuable tool for further discovery about the timing of gene expression during dI differentiation and demonstrates its utility in clarifying dI lineage relationships.
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Diferenciação Celular , Linhagem da Célula , Regulação da Expressão Gênica no Desenvolvimento , Interneurônios , Medula Espinal , Animais , Camundongos , Medula Espinal/metabolismo , Medula Espinal/embriologia , Linhagem da Célula/genética , Interneurônios/metabolismo , Interneurônios/citologia , Diferenciação Celular/genética , Análise de Célula Única , Células-Tronco Embrionárias Murinas/metabolismo , Células-Tronco Embrionárias Murinas/citologia , RNA-SeqRESUMO
Introduction: Infants with congenital heart disease (CHD) are at high risk for developmental differences which can be explained by the cumulative effect of medical complications along with sequelae related to the hospital and environmental challenges. The intervention of individualized developmental care (IDC) minimizes the mismatch between the fragile newborn brain's expectations and the experiences of stress and pain inherent in the intensive care unit (ICU) environment. Methods: A multidisciplinary group of experts was assembled to implement quality improvement (QI) to increase the amount of IDC provided, using the Newborn Individualized Developmental Care and Assessment Program (NIDCAP), to newborn infants in the cardiac ICU. A Key Driver Diagram was created, PDSA cycles were implemented, baseline and ongoing measurements of IDC were collected, and interventions were provided. Results: We collected 357 NIDCAP audits of bedside IDC. Improvement over time was noted in the amount of IDC including use of appropriate lighting, sound management, and developmentally supportive infant bedding and clothing, as well as in promoting self-regulation, therapeutic positioning, and caregiving facilitation. The area of family participation and holding of infants in the CICU was the hardest to support change over time, especially with the most ill infants. Infants with increased medical complexity were less likely to receive IDC. Discussion: This multidisciplinary, evidence-based QI intervention demonstrated that the implementation of IDC in the NIDCAP model improved over time using bedside auditing of IDC.
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INTRODUCTION: Promoting safe sleep to decrease sudden unexpected infant death is challenging in the hospital setting. LOCAL PROBLEM: Concern for adherence to safe sleep practice across inpatient units at a large pediatric hospital. METHODS: Used quality improvement methodologies to promote safe sleep across all units. INTERVENTIONS: Development of a multidisciplinary expert group, hospital-wide guidelines, targeted interventions, and bedside audits to track progress. RESULTS: Adherence to safe sleep practices improved from 9% to 53%. Objects in the crib were a major barrier to maintaining a safe sleep environment. Safe sleep practices were less likely to be observed in infants with increased medical complexity (p = .027). CONCLUSIONS: Quality improvement methodology improved adherence to infant safe sleep guidelines across multiple units. Medically complex infants continue to be a challenge to safe sleep. Therefore, ongoing education for staff and further research into best practices for the most complex infant populations are necessary.
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Fidelidade a Diretrizes , Hospitais Pediátricos , Melhoria de Qualidade , Morte Súbita do Lactente , Humanos , Morte Súbita do Lactente/prevenção & controle , Lactente , Recém-Nascido , Cuidado do Lactente/métodos , Cuidado do Lactente/normas , Sono/fisiologia , Feminino , Masculino , Guias de Prática Clínica como Assunto , Segurança do Paciente/normasRESUMO
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical laboratories in effectively addressing the complexities of HBOC testing, while taking into account advancements since the last guidelines were published in 2007. These guidelines summarise cancer risk data from recent studies for the most commonly tested high and moderate risk HBOC genes for laboratories to refer to as a guide. Furthermore, recommendations are provided for somatic and germline testing services with regards to clinical referral, laboratory analyses, variant interpretation, and reporting. The guidelines present recommendations where 'must' is assigned to advocate that the recommendation is essential; and 'should' is assigned to advocate that the recommendation is highly advised but may not be universally applicable. Recommendations are presented in the form of shaded italicised statements throughout the document, and in the form of a table in supplementary materials (Table S4). Finally, for the purposes of encouraging standardisation and aiding implementation of recommendations, example report wording covering the essential points to be included is provided for the most common HBOC referral and reporting scenarios. These guidelines are aimed primarily at genomic scientists working in diagnostic testing laboratories.
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Testes Genéticos , Neoplasias Ovarianas , Feminino , Humanos , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Predisposição Genética para Doença , Testes Genéticos/normas , Testes Genéticos/métodos , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/diagnóstico , Guias de Prática Clínica como AssuntoRESUMO
BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level data from National Health Service (NHS) testing of cancer susceptibility genes (2002-2023) submitted to the National Disease Registration Service revealed heterogeneity across participating laboratories regarding (1) the structure, quality and completeness of submitted data, and (2) the ease with which that data could be assembled locally for submission. METHODS: In May 2023, we undertook a closed online survey of 51 clinical scientists who provided consensus responses representing all 17 of 17 NHS molecular genetic laboratories in England and Wales which undertake NHS diagnostic analyses of cancer susceptibility genes. The survey included 18 questions relating to 'next-generation sequencing workflow' (11), 'variant classification' (3) and 'phenotypical context' (4). RESULTS: Widely differing processes were reported for transfer of variant data into their local LIMS (Laboratory Information Management System), for the formatting in which the variants are stored in the LIMS and which classes of variants are retained in the local LIMS. Differing local provisions and workflow for variant classifications were also reported, including the resources provided and the mechanisms by which classifications are stored. CONCLUSION: The survey responses illustrate heterogeneous laboratory workflow for preparation of genomic variant data from local LIMS for centralised submission. Workflow is often labour-intensive and inefficient, involving multiple manual steps which introduce opportunities for error. These survey findings and adoption of the concomitant recommendations may support improvement in laboratory dataflows, better facilitating submission of data for central amalgamation.
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Laboratórios , Neoplasias , Humanos , Fluxo de Trabalho , Medicina Estatal , Genômica , Reino UnidoRESUMO
PURPOSE: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, and costs. METHODS: An observational study in an area representing one-fifth of England. RESULTS: Data were collected from 89 adult AF recipients. At disclosure, among 57 recipients of a cancer-predisposition-associated AF and 32 recipients of an FH-associated AF, 35% and 88%, respectively, had personal and/or family history evidence of AF-related disease. During post-disclosure investigations, 4 cancer-AF recipients had evidence of disease, including 1 medullary thyroid cancer. Six women with an HBOC AF, 3 women with a Lynch syndrome AF, and 2 individuals with a MEN AF elected for risk-reducing surgery. New hyperlipidemia diagnoses were made in 6 FH-AF recipients and treatment (re-)initiated for 7 with prior hyperlipidemia. Generating and disclosing AFs in this region cost £1.4m; £8680 per clinically significant AF. CONCLUSION: Generation and disclosure of AFs identifies individuals with and without personal or familial evidence of disease and prompts appropriate clinical interventions. Results can inform policy toward secondary findings.