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RATIONALE: Mass spectrometry (MS) is introduced to high school students in the UK in many pre-university course syllabi. As such, we have identified the use of MS as a key technique that should be taught practically to undergraduates from the outset of their studies. This mini-review describes how we introduce and develop students' use of MS throughout our three-year undergraduate spiral curriculum practical programme, using atmospheric pressure chemical ionization MS (APCI-MS). METHODS: We have used an Advion ExpressionL spectrometer, fitted with an atmospheric solids analysis probe or a Plate Express TLC sampler for sample introduction. RESULTS: We have successfully demonstrated the use of APCI-MS in a range of practicals and experiments covering organic and organometallic chemistries, with large cohorts of students gaining hands-on instrumental experience in authentic research settings. CONCLUSIONS: APCI-MS has proven to be an easy-to-use and valuable addition to our undergraduate practical course. The robustness of the spectrometer enables routine use by large cohorts of students with minimal supervision, and routine maintenance can be carried out by non-specialist technicians. Students can readily process and interpret results for a series of routine analyses, as well as demonstrate uses in problem-solving exercises.
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BACKGROUND AND OBJECTIVES: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep. METHODS: The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised. Sleep quality was evaluated with the Pediatric Sleep Questionnaire and Pediatric Daytime Sleepiness Scale. RESULTS: Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG)n repeats (±SD) were 6.4 ± 3.8 years and 1,263 ± 432, respectively. The mean IQ was 64.1 ± 14.9 on the Weschler scales with 65.6% of participants falling in the extremely low range for IQ. Adaptive functioning was significantly low for 57.1% of participants (n = 20). Caregiver report of executive functioning indicated 23.1% (9/39) of participants had clinically elevated levels of dysfunction, though teacher report was discrepant and indicated 53.3% of participants with CDM fell in this range (8/15). Spearman correlations were strongly positive (p ≤ 0.05) for estimated full scale IQ, overall adaptive functioning and with daily living and socialization domain standard scores on the Vineland-II ranging from r = 0.719 to r = 0.849 for all ages. Aspects of executive function were directly related to features of autism and sleep quality. Social communication was inversely related to all aspects of daily functioning, except communication, and directly related to aspects of autism behavior. DISCUSSION: Depressed IQ, adaptive skills, and executive functioning, poor sleep quality, and features of autism and altered social functioning individually describe different aspects of the neurobehavioral phenotype in CDM. These neurobehavioral and sleep measures could help quantitatively measure and assess the burden of cognitive impairment in CDM.
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Transtorno do Espectro Autista , Transtorno Autístico , Distrofia Miotônica , Pré-Escolar , Recém-Nascido , Criança , Humanos , Distrofia Miotônica/complicações , Estudos Transversais , Transtorno do Espectro Autista/psicologia , FenótipoAssuntos
Encefalopatias , COVID-19 , Viroses do Sistema Nervoso Central , Influenza Humana , Mielite , Doenças Neuromusculares , Criança , Humanos , Influenza Humana/complicações , COVID-19/complicações , Encefalopatias/complicações , Encefalopatias/diagnóstico por imagem , Convulsões/etiologia , Paralisia , Doença AgudaRESUMO
ABSTRACT: Efforts to optimize continuing professional development (CPD) are ongoing and include advocacy for the use of clinician performance data. Several educational and quality-based frameworks support the use of performance data to achieve intended improvement outcomes. Although intuitively appealing, the role of performance data for CPD has been uncertain and its utility mainly assumed. In this Scholarly Perspective, the authors briefly review and trace arguments that have led to the conclusion that performance data are essential for CPD. In addition, they summarize and synthesize a recent and ongoing research program exploring the relationship physicians have with performance data. They draw on Collins, Onwuegbuzie, and Johnson's legitimacy model and Dixon-Woods' integrative approach to generate inferences and ways of moving forward. This interpretive approach encourages questioning or raising of assumptions about related concepts and draws on the perspectives (i.e., interpretive work) of the research team to identify the most salient points to guide future work. The authors identify 6 stimuli for future programs of research intended to support broader and better integration of performance data for CPD. Their aims are to contribute to the discourse on data advocacy for CPD by linking conceptual, methodologic, and analytic processes and to stimulate discussion on how to proceed on the issue of performance data for CPD purposes. They hope to move the field from a discussion on the utility of data for CPD to deeper integration of relevant conceptual frameworks.
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Ocupações em Saúde , Médicos , HumanosRESUMO
INTRODUCTION: Children with Duchenne muscular dystrophy (DMD) are at risk of experiencing fatigue that negatively impacts their health-related quality of life (HRQoL). This study aimed to assess the association between fatigue and HRQoL, by examining fatigue trajectories over 48 weeks, and assessing factors associated with these fatigue trajectories. METHODS: The study sample consisted of 173 DMD subjects enrolled in a 48-week-long phase 2 clinical trial (NCT00592553) for a novel therapeutic who were between the ages of 5 and 16 years. RESULTS: The results of regression modeling show baseline fatigue and baseline HRQoL (R 2 = 0. 54 for child self-report and 0.51 for parent proxy report) and change in fatigue and HRQoL over 48 weeks (R 2 = 0.47 for child self-report and 0.36 for parent proxy report) were significantly associated with one another. Three unique fatigue trajectories using Latent Class Growth Models were identified for child and parent proxy reported fatigue. The risk of being in the high fatigue group as compared to the low fatigue group increased by 24% with each year increase in age and also with decreasing walking distance, as reported by children and parent proxy, respectively. CONCLUSION: This study identified fatigue trajectories and risk factors associated with greater fatigue, helping clinicians and researchers identify the profile of fatigue in DMD children.
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Distrofia Muscular de Duchenne , Qualidade de Vida , Criança , Humanos , Pré-Escolar , Adolescente , Distrofia Muscular de Duchenne/complicações , Pais , Fadiga/etiologiaRESUMO
By ensuring optimal dosing, therapeutic drug monitoring (TDM) improves outcomes in critically ill patients by maximizing effectiveness while minimizing toxicity. Current methods for measuring plasma drug concentrations, however, can be challenging, time-consuming, and slow to return an answer, limiting the extent to which TDM is used to optimize drug exposure. A potentially promising solution to this dilemma is provided by biosensors, molecular sensing devices that employ biorecognition elements to recognize and quantify their target molecules rapidly and in a single step. This paper reviews the current state of the art for biosensors regarding their application to TDM of antibiotics in the critically ill, both as ex vivo point-of-care devices supporting single timepoint measurements and in vivo devices supporting continuous real-time monitoring in situ in the body. This paper also discusses the clinical development of biosensors for TDM, including regulatory challenges and the need for standardized performance evaluation. We conclude by arguing that, through precise and real-time monitoring of antibiotics, the application of biosensors in TDM holds great promise for enhancing the optimization of drug exposure in critically ill patients, offering the potential for improved outcomes.
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Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza® (Nusinersen) and Zolgensma® (Onasemnogene abeparvovec-xioi) within the first 2 months of life. With the scarce evidence that currently exists, clinicians should be aware of the efficacy and safety impact of early therapy particularly in the preterm infant.
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INTRODUCTION: Understanding real-world profiles from neuromuscular databases is helpful for optimizing clinical care and planning research studies. The Canadian Neuromuscular Disease Registry (CNDR) has respiratory data from a population of boys with Duchenne Muscular Dystrophy (DMD). OBJECTIVES: To describe cross-sectional respiratory profiles from a national DMD real-world dataset. To explore the relationship between forced vital capacity percent predicted (FVC%) and disease severity parameters: scoliosis, ambulation and ventilation status. METHODS: Descriptive statistics summarized the respiratory profiles. The CNDR registry enrolls and collects DMD clinic data from 36 Canadian centers. RESULTS: There were 414 participants enrolled. The age ranged from 2 to 36 years old. Pulmonary function test data were available for 323 participants. The use of ventilatory support was seen in a significant proportion (19.5%) of subjects by age 14-16 years and was used by the majority (69.2%) by age 20-22 years. FVC% declined at a rate of 3.19% per year with every 1-year increase in age. FVC% declined annually by 2.47% in nonambulatory participants versus by 0.96% in ambulatory participants. FVC% did not significantly change over age with the presence of scoliosis or use of ventilatory technology. CONCLUSIONS: The data from this large cohort are valuable for understanding real-world patterns of clinical care and disease progression. There is a significant association between the loss of ambulation and the rate of FVC% decline. Further longitudinal studies are needed to better understand the impact of disease parameters on pulmonary function decline and the need for ventilatory support.
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As part of its social accountability mission, the University of Ottawa Faculty of Medicine invited community service learning (CSL) partner organizations to a guided, virtual conversation on April 12, 2021 to contribute to the future strategic directions for our curriculum. Representatives of 15 organizations participated and provided insights into how they perceive CSL students, the Faculty of Medicine, and the process of assessment. This workshop forged stronger bonds between the university and these community organizations and led to recommendations for their greater involvement going forward, an approach that could be considered by other Faculties of Medicine.
Dans le cadre de sa mission de responsabilité sociale, la Faculté de médecine de l'Université d'Ottawa a invité les organismes partenaires de l'apprentissage par le service communautaire (ASC) à contribuer aux futures orientations stratégiques de notre programme d'études par le biais d'une discussion virtuelle guidée, tenue le 12 avril 2021. Les représentants des 15 organismes qui y ont participé ont donné leur avis sur la façon dont ils perçoivent les étudiants en ASC, la Faculté de médecine et le processus d'évaluation. Cet atelier a permis de resserrer les liens entre l'université et ces organismes communautaires et a débouché sur des recommandations visant à renforcer leur participation à l'avenir, une approche qui pourrait être envisagée par d'autres facultés de médecine.
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Educação de Graduação em Medicina , Humanos , Currículo , Comunicação , Docentes , AprendizagemRESUMO
ZnT1 is a major zinc transporter that regulates cellular zinc homeostasis. We have previously shown that ZnT1 has additional functions that are independent of its activity as a Zn2+ extruder. These include inhibition of the L-type calcium channel (LTCC) through interaction with the auxiliary ß-subunit of the LTCC and activation of the Raf-ERK signaling leading to augmented activity of the T-type calcium channel (TTCC). Our findings indicate that ZnT1 increases TTCC activity by enhancing the trafficking of the channel to the plasma membrane. LTCC and TTCC are co-expressed in many tissues and have different functions in a variety of tissues. In the current work, we investigated the effect of the voltage-gated calcium channel (VGCC) ß-subunit and ZnT1 on the crosstalk between LTCC and TTCC and their functions. Our results indicate that the ß-subunit inhibits the ZnT1-induced augmentation of TTCC function. This inhibition correlates with the VGCC ß-subunit-dependent reduction in ZnT1-induced activation of Ras-ERK signaling. The effect of ZnT1 is specific, as the presence of the ß-subunit did not change the effect of endothelin-1 (ET-1) on TTCC surface expression. These findings document a novel regulatory function of ZnT1 serving as a mediator in the crosstalk between TTCC and LTCC. Overall, we demonstrate that ZnT1 binds and regulates the activity of the ß-subunit of VGCC and Raf-1 kinase and modulates surface expression of the LTCC and TTCC catalytic subunits, consequently modulating the activity of these channels.
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Canais de Cálcio Tipo L , Canais de Cálcio Tipo T , Cálcio/metabolismo , Canais de Cálcio Tipo L/metabolismo , Canais de Cálcio Tipo T/metabolismo , Proteínas Proto-Oncogênicas c-raf/metabolismo , Animais , XenopusRESUMO
In the 1980s the Soviet Academy of Sciences proposed to build a massive dam and hydroelectric station on the Lower Tunguska river in the Evenki Autonomous Okrug (now a municipal district of Krasnoyarsk Territory). This would have been the largest and most northerly hydroelectric station in the world. Plans for the project were abandoned with the collapse of the USSR. The plan was resuscitated twenty years later, only to be abandoned again. This essay explores themes of protest, anticipation, and deferral in the context of a highly marginalized Indigenous population. Moving between literary and media critique to social theory, we suggest that the effects of the dam proposals produce conditions for enduring feelings of indeterminacy.
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Povos Indígenas , Rios , Humanos , Sibéria/epidemiologia , Centrais ElétricasRESUMO
BACKGROUND: Therapeutic drug monitoring (TDM) of aminoglycosides and vancomycin is used to prevent oto- and nephrotoxicity in neonates. Analytical and nonanalytical factors potentially influence dosing recommendations. This study aimed to determine the impact of analytical variation (imprecision and bias) and nonanalytical factors (accuracy of drug administration time, use of non-trough concentrations, biological variation, and dosing errors) on neonatal antimicrobial dosing recommendations. METHODS: Published population pharmacokinetic models and the Australasian Neonatal Medicines Formulary were used to simulate antimicrobial concentration-time profiles in a virtual neonate population. Laboratory quality assurance data were used to quantify analytical variation in antimicrobial measurement methods used in clinical practice. Guideline-informed dosing recommendations based on drug concentrations were applied to compare the impact of analytical variation and nonanalytical factors on antimicrobial dosing. RESULTS: Analytical variation caused differences in subsequent guideline-informed dosing recommendations in 9.3-12.1% (amikacin), 16.2-19.0% (tobramycin), 12.2-45.8% (gentamicin), and 9.6-19.5% (vancomycin) of neonates. For vancomycin, inaccuracies in drug administration time (45.6%), use of non-trough concentrations (44.7%), within-subject biological variation (38.2%), and dosing errors (27.5%) were predicted to result in more dosing discrepancies than analytical variation (12.5%). Using current analytical performance specifications, tolerated dosing discrepancies would be up to 14.8% (aminoglycosides) and 23.7% (vancomycin). CONCLUSIONS: Although analytical variation can influence neonatal antimicrobial dosing recommendations, nonanalytical factors are more influential. These result in substantial variation in subsequent dosing of antimicrobials, risking inadvertent under- or overexposure. Harmonization of measurement methods and improved patient management systems may reduce the impact of analytical and nonanalytical factors on neonatal antimicrobial dosing.
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Antibacterianos , Vancomicina , Recém-Nascido , Humanos , Vancomicina/farmacocinética , Vancomicina/uso terapêutico , Estudos Retrospectivos , Antibacterianos/uso terapêutico , Aminoglicosídeos , Monitoramento de Medicamentos/métodosRESUMO
BACKGROUND & RATIONALE: The process to evaluate candidacy for epilepsy surgery is lengthy and stressful for caregivers, therefore the decision can be challenging. There is not a lot of information in regard to how families of a child living with epilepsy navigate the stressful decision during surgical candidacy evaluation. With difficult decisions comes the possibility of increased decisional conflict in both the child and the family. METHODS: A project designed to provide greater knowledge to the family was conducted utilizing the shared decision-making (SDM) process to assist families in the decision-making during surgical candidacy evaluation; this was done using a decision coach, who is an unbiased health care professional, providing families with evidence-based information and support tools while supporting them in making decisions based on their values. RESULTS: Results reveal that 90% (45 of 50) of families offered a consult with the decision coach agreed to participate. For these families, 78% (35 of 45) felt they were ready to move forward with surgery after the consult and 22% (10 of 45) felt they needed more information and testing. There was a significant improvement in the level of decisional conflict, uncertainty, and perception of preparation for decision making for the caregivers between the first and second consult, although 60% of families did not complete the postconflict survey. CONCLUSIONS: The SDM process assists families in their need for more knowledge regarding risks, benefits, and options for treatment before making a surgical choice. SDM utilizing an impartial decision coach outside the direct circle of care and individualized epilepsy surgery education aids improves parental decision conflict and satisfaction.
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Técnicas de Apoio para a Decisão , Epilepsia , Criança , Humanos , Participação do Paciente , Cuidadores , Inquéritos e Questionários , Epilepsia/cirurgiaRESUMO
BACKGROUND: Electronic consultation (eConsult) programs are crucial components of modern healthcare that facilitate communication between primary care providers (PCPs) and specialists. eConsults between PCPs and specialists. They also provide a unique opportunity to use real-world patient scenarios for reflective learning as part of professional development. However, tools that guide and document learning from eConsults are limited. The purpose of this study was to develop and pilot two eConsult reflective learning tools (RLTs), one for PCPs and one for specialists, for those participating in eConsults. METHODS: We performed a four-phase pragmatic mixed methods study recruiting PCPs and specialists from two public health systems located in two countries: eConsult BASE in Canada and San Francisco Health Network eConsult in the United States. In phase 1, subject matter experts developed preliminary RLTs for PCPs and specialists. During phase 2, a Delphi survey among 20 PCPs and 16 specialists led to consensus on items for each RLT. In phase 3, we conducted cognitive interviews with three PCPs and five specialists as they applied the RLTs on previously completed consults. In phase 4, we piloted the RLTs with eConsult users. RESULTS: The RLTs were perceived to elicit critical reflection among participants regarding their knowledge and practice habits and could be used for quality improvement and continuing professional development. CONCLUSION: PCPs and specialists alike perceived that eConsult systems provided opportunities for self-directed learning wherein they were motivated to investigate topics further through the course of eConsult exchanges. We recommend the RLTs be subject to further evaluation through implementation studies at other sites.
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Atenção Primária à Saúde , Encaminhamento e Consulta , Humanos , Atenção Primária à Saúde/métodos , Canadá , Melhoria de Qualidade , Pessoal de SaúdeRESUMO
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized by progressive muscle weakness due to loss of function mutations in the dystrophin gene. Variation in clinical presentation, the rate of disease progression, and treatment responsiveness have been observed amongst DMD patients, suggesting that factors beyond the loss of dystrophin may contribute to DMD pathophysiology. Epigenetic mechanisms are becoming recognized as important factors implicated in the etiology and progression of various diseases. A growing number of genetic syndromes have been associated with unique genomic DNA methylation patterns (called "episignatures") that can be used for diagnostic testing and as disease biomarkers. To further investigate DMD pathophysiology, we assessed the genome-wide DNA methylation profiles of peripheral blood from 36 patients with DMD using the combination of Illumina Infinium Methylation EPIC bead chip array and EpiSign technology. We identified a unique episignature for DMD that whose specificity was confirmed in relation other neurodevelopmental disorders with known episignatures. By modeling the DMD episignature, we developed a new DMD episignature biomarker and provided novel insights into the molecular pathogenesis of this disorder, which have the potential to advance more effective, personalized approaches to DMD care.
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Distrofia Muscular de Duchenne , Humanos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/patologia , Distrofina/genética , Distrofina/metabolismo , Metilação de DNARESUMO
BACKGROUND: Early recognition of hospital-acquired acute kidney injury (AKI) may improve patient management and outcomes. METHODS: This multicentre study was conducted at three hospitals (H1-intervention; H2 and H3-controls) served by a single laboratory. The intervention bundle [an interruptive automated alerts (aAlerts) showing AKI stage and baseline creatinine in the eMR, a management guide and junior medical staff education] was implemented only at H1. Outcome variables included length-of-stay (LOS), all-cause in-hospital mortality and management quality. RESULTS: Over 6 months, 639 patients developed AKI (265 at H1 and 374 at controls), with 94.7% in general wards; 537 (84%) patients developed Stage 1, 58 (9%) Stage 2 and 43 (7%) Stage 3 AKI. Median LOS was 9 days (IQR 4-17) and was not different between intervention and controls. However, patients with AKI stage 1 had shorter LOS at H1 [median 8 versus 10 days (P = 0.021)]. Serum creatinine had risen prior to admission in most patients. Documentation of AKI was better in H1 (94.8% versus 83.4%; P = 0.001), with higher rates of nephrology consultation (25% versus 19%; P = 0.04) and cessation of nephrotoxins (25.3 versus 18.8%; P = 0.045). There was no difference in mortality between H1 versus controls (11.7% versus 13.0%; P = 0.71). CONCLUSIONS: Most hospitalized patients developed Stage 1 AKI and developed AKI in the community and remained outside the intensive care unit (ICU). The AKI eAlert bundle reduced LOS in most patients with AKI and increased AKI documentation, nephrology consultation rate and cessation of nephrotoxic medications.
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Injúria Renal Aguda , Pacotes de Assistência ao Paciente , Humanos , Estudos de Coortes , Austrália/epidemiologia , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/terapia , Hospitalização , Unidades de Terapia Intensiva , Creatinina , Estudos RetrospectivosRESUMO
INTRODUCTION: The use of data to inform lifelong learning has become increasingly important in continuing professional development (CPD) practice. Despite the potential benefits of data-driven learning, our understanding of how physicians engage in data-informed learning activities, particularly for CPD, remains unclear and warrants further study. The purpose of this study was to explore how physicians perceive cultural factors (individual, organizational, and systemic) that influence the use of clinical data to inform lifelong learning and self-initiated CPD activities. METHODS: This qualitative study is part of an explanatory sequential mixed-methods study examining data-informed learning. Participants were psychiatrists and general surgeons from Canada and the United States. Recruitment occurred between April 2019 and November 2019, and the authors conducted semistructured telephone interviews between May 2019 and November 2019. The authors performed thematic analysis using an iterative, inductive method of constant comparative analysis. RESULTS: The authors interviewed 28 physicians: 17 psychiatrists (61%) and 11 general surgeons (39%). Three major themes emerged from the continuous, iterative analysis of interview transcripts: (1) a strong relationship between data and trust, (2) a team-based approach to data-informed learning for practice improvement, and (3) a need for organizational support and advocacy to put data into practice. CONCLUSION: Building trust, taking a team-based approach, and engaging multiple stakeholders, such as data specialists and organizational leadership, may significantly improve the use of data-informed learning. The results are situated in the existing literature, and opportunities for future research are summarized.
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Aprendizagem , Médicos , Humanos , Pesquisa Qualitativa , Canadá , Educação ContinuadaRESUMO
BACKGROUND: Despite recommendations for regular lung volume recruitment (LVR) use in clinical practice guidelines for children with neuromuscular disease, adherence to LVR is poor. We aimed to describe the experience of LVR by boys with Duchenne muscular dystrophy (DMD), their families, and healthcare providers (HCPs), as well as to identify the barriers and facilitators to LVR use. METHODS: This multicenter, qualitative study evaluated boys with DMD (n = 11) who used twice-daily LVR as part of a randomized controlled trial, as well as their parents (n = 11), and HCPs involved in the clinical use of LVR (n = 9). Semistructured interviews were conducted to identify participants' understanding of LVR therapy and their beliefs, barriers and facilitators to its use. Thematic analysis was conducted using an inductive approach. A subanalysis compared adherent and nonadherent children. RESULTS: Seven themes were identified related to participants' beliefs and experiences with LVR: emotional impact, adaptation to LVR, perceived benefits of LVR, routine, family engagement, clinical resources, and equipment-related factors. Strategies to improve adherence were also identified, including education, reinforcement and demonstration of LVR benefit, as well as clinician support. There were no thematic differences between adherent and nonadherent children. DISCUSSION: Despite the benefits of LVR and positive experiences with it by many families, there remain barriers to adherence to treatment. HCPs need to balance the need for early introduction to give families time to adapt to LVR while ensuring that the benefit of LVR outweighs the burden. Clinician support is important for family engagement.
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Distrofia Muscular de Duchenne , Criança , Masculino , Humanos , Distrofia Muscular de Duchenne/tratamento farmacológico , Medidas de Volume Pulmonar , Pais/psicologia , Pesquisa QualitativaRESUMO
Here we present the case of a patient with a novel de novo, likely pathogenic, heterozygous MAP3K7 variant (c.528dupT, p.G177WfsX5) causing cardiospondylocarpofacial syndrome (CSCFS). The variant, which falls in exon 6, is the first frameshift or non-sense mutation to be connected to CSCFS and presents with a phenotype that shares features with other MAP3K7-linked pathologies, including frontometaphyseal dysplasia 2 (FMD2) and the syndrome arising from an interstitial 6q15 deletions which envelop the gene. Other known mutations associated with CSCFS are plotted in black text (1,2,3).