Effects of a Semi-rigid Knee Brace on Mobility and Pain in People with Knee Osteoarthritis

Objective: Osteoarthritis is one of the most common chronic conditions leading to disability among older people (age 60+ years). Knee osteoarthritis has a significant impact on daily functioning. Pain, stiffness, reduced strength, changes in posture, and reduced knee stability may result in reduced mobility. The aim of this study is to evaluate the short- and long-term effects of conservative therapeutic use of a semi-rigid knee brace for management of patients with knee osteoarthritis, using patient-reported outcomes.Design: Patients with osteoarthritis using a semi-rigid knee brace were asked to complete a questionnaire about the effectiveness of the brace after wearing it for 3 weeks. The primary outcome measure was mobility, assessed using an ordinal scale with and without use of the knee brace. Secondary outcome measures were pain symptoms and overall daily functioning.Results: A total of 381 patients completed the questionnaire. The results show considerably improved mobility while using a knee brace in different mobility groups. In the group of respondents who were limited to their home environment mobility decreased by 74% while using a knee brace. In the group of respondents who were able to walk to a nearby shop mobility increased by 50%, and the group experiencing no mobility restrictions increased from 3% without using a knee brace to 13% while using a knee brace. In addition, 54% of respondents reported a reduction in pain symptoms and 62% of respondents reported an improvement in overall daily functioning while using a knee brace.Conclusion: The results of this large-scale patient-reported outcome measure (PROM) study show that the use of a semi-rigid knee brace appears to provide suitable joint support, offering pain relief and freedom of movement and should be considered a useful non-surgical treatment method for use in patients with knee osteoarthritis.Clinical trial: This study does not include a clinical trial.</p

Connecting academics’ disciplinary knowledge to their professional development as university teachers: a conceptual analysis of teacher expertise and teacher knowledge

Disciplinary knowledge lies at the heart of academic work. However, connecting academics’ disciplinary knowledge to their professional development as teachers has been a longstanding challenge for (research-intensive) universities. This is reflected in criticism of the practices that aim to support the professional development of university teachers. In order to create better connections, a deeper understanding is needed of how academics’ disciplinary knowledge relates to the development of their teaching. In this paper, we therefore aim to advance theoretical insights about how academics’ disciplinary knowledge connects to their professional development as university teachers. We do so by providing a conceptual analysis of teacher expertise and teacher knowledge perspectives. Literature discussed as part of the teacher expertise perspective provides insights into how knowledge is structured in order to perform teacher tasks. In our discussion of the teacher knowledge perspective, we include bodies of literature about teachers’ knowledge base to explore the role of disciplinary knowledge in how to teach and about powerful knowledge to explore the role of disciplinary knowledge in what to teach. Insights from these bodies of literature can, from a teacher knowledge perspective, offer theoretical underpinnings for connecting academics’ disciplinary knowledge to their professional development as university teachers. Adaptive expertise and practical knowledge are identified as concepts that include elements of both teacher expertise and teacher knowledge perspectives. Based on the conceptual analysis, we identify and discuss three aspects related to supporting the professional development of university teachers where attention to connection with teachers’ disciplinary knowledge is important

Connecting academics’ disciplinary knowledge to their professional development as university teachers: a conceptual analysis of teacher expertise and teacher knowledge

Disciplinary knowledge lies at the heart of academic work. However, connecting academics’ disciplinary knowledge to their professional development as teachers has been a longstanding challenge for (research-intensive) universities. This is reflected in criticism of the practices that aim to support the professional development of university teachers. In order to create better connections, a deeper understanding is needed of how academics’ disciplinary knowledge relates to the development of their teaching. In this paper, we therefore aim to advance theoretical insights about how academics’ disciplinary knowledge connects to their professional development as university teachers. We do so by providing a conceptual analysis of teacher expertise and teacher knowledge perspectives. Literature discussed as part of the teacher expertise perspective provides insights into how knowledge is structured in order to perform teacher tasks. In our discussion of the teacher knowledge perspective, we include bodies of literature about teachers’ knowledge base to explore the role of disciplinary knowledge in how to teach and about powerful knowledge to explore the role of disciplinary knowledge in what to teach. Insights from these bodies of literature can, from a teacher knowledge perspective, offer theoretical underpinnings for connecting academics’ disciplinary knowledge to their professional development as university teachers. Adaptive expertise and practical knowledge are identified as concepts that include elements of both teacher expertise and teacher knowledge perspectives. Based on the conceptual analysis, we identify and discuss three aspects related to supporting the professional development of university teachers where attention to connection with teachers’ disciplinary knowledge is important

Design of the EPIGENEC Study: Assessing the EPIdemiology and GENetics of Escherichia coli in the Netherlands

Background: Infections caused by E. coli cause considerable disease burden and range from frequently occurring and relatively innocent urinary tract infection (UTI) to severe bloodstream infection (BSI). The incidence of infections caused by ESBL-producing E. coli (ESBL-PEc) is increasing, justifying surveillance and development of preventive strategies in several domains. Faecal carriage is universal and believed to be the most important reservoir for E. coli from which infections can originate. It is currently unknown to what extent Dutch E. coli carriage strains in the community reflect isolates causing disease. In this study, we will perform comparative genomics to infer the population structures of human-derived ESBL-PEc from community- and hospital-acquired infections and from community-based faecal carriage samples in the Netherlands. Furthermore, we will describe the molecular epidemiology of E. coli isolates causing invasive disease (BSI). Methods: This study uses four different microbiological data sources: 1) ESBL-PEc from patients with community-acquired UTI tested in primary care between May and November 2017, 2) ESBL-PEc from urine cultures obtained from patients hospitalized between January 2014 and December 2016, 3) E. coli from blood cultures obtained from patients hospitalized between January 2014 and December 2016, and 4) ESBL-PEc from faecal samples collected in a national population- prevalence study performed between January 2014 and January 2017. Clinical epidemiological data was collected from all patients and all isolates were subjected to whole genome sequencing. Discussion: The EPIGENEC study (EPIdemiology and GENetics of E. coli) will describe the molecular epidemiology of E. coli BSI and assess the genomic population structure of ESBL-PEc strains from community-acquired and nosocomial infections, and of ESBL-PEc reflecting community-based faecal carriage. Information from these studies may assist in optimizing surveillance strategies and determining targets and potential impact of future new preventive measures

The epidemiological impact of digital and manual contact tracing on the SARS-CoV-2 epidemic in the Netherlands: Empirical evidence

The Dutch government introduced the CoronaMelder smartphone application for digital contact tracing (DCT) to complement manual contact tracing (MCT) by Public Health Services (PHS) during the 2020-2022 SARS-CoV-2 epidemic. Modelling studies showed great potential but empirical evidence of DCT and MCT impact is scarce. We determined reasons for testing, and mean exposure-testing intervals by reason for testing, using routine data from PHS Amsterdam (1 December 2020 to 31 May 2021) and data from two SARS-CoV-2 rapid diagnostic test accuracy studies at other PHS sites in the Netherlands (14 December 2020 to 18 June 2021). Throughout the study periods, notification of DCT-identified contacts was via PHS contact-tracers, and self-testing was not yet widely available. The most commonly reported reason for testing was having symptoms. In asymptomatic individuals, it was having been warned by an index case. Only around 2% and 2-5% of all tests took place after DCT or MCT notification, respectively. About 20-36% of those who had received a DCT or MCT notification had symptoms at the time of test request. Test positivity after a DCT notification was significantly lower, and exposure-test intervals after a DCT or MCT notification were longer, than for the above-mentioned other reasons for testing. Our data suggest that the impact of DCT and MCT on the SARS-CoV-2 epidemic in the Netherlands was limited. However, DCT impact might be enlarged if app use coverage is improved, contact-tracers are eliminated from the digital notification process to minimise delays, and DCT is combined with self-testing

The genotypic and phenotypic spectrum of MTO1 deficiency.

BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). MATERIAL AND METHODS: Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail. RESULTS: For the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients. CONCLUSION: MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists

Cohort profile of PLUTO: a perioperative biobank focusing on prediction and early diagnosis of postoperative complications

PURPOSE: Although elective surgery is generally safe, some procedures remain associated with an increased risk of complications. Improved preoperative risk stratification and earlier recognition of these complications may ameliorate postoperative recovery and improve long-term outcomes. The perioperative longitudinal study of complications and long-term outcomes (PLUTO) cohort aims to establish a comprehensive biorepository that will facilitate research in this field. In this profile paper, we will discuss its design rationale and opportunities for future studies. PARTICIPANTS: Patients undergoing elective intermediate to high-risk non-cardiac surgery are eligible for enrolment. For the first seven postoperative days, participants are subjected to daily bedside visits by dedicated observers, who adjudicate clinical events and perform non-invasive physiological measurements (including handheld spirometry and single-channel electroencephalography). Blood samples and microbiome specimens are collected at preselected time points. Primary study outcomes are the postoperative occurrence of nosocomial infections, major adverse cardiac events, pulmonary complications, acute kidney injury and delirium/acute encephalopathy. Secondary outcomes include mortality and quality of life, as well as the long-term occurrence of psychopathology, cognitive dysfunction and chronic pain. FINDINGS TO DATE: Enrolment of the first participant occurred early 2020. During the inception phase of the project (first 2 years), 431 patients were eligible of whom 297 patients consented to participate (69%). Observed event rate was 42% overall, with the most frequent complication being infection. FUTURE PLANS: The main purpose of the PLUTO biorepository is to provide a framework for research in the field of perioperative medicine and anaesthesiology, by storing high-quality clinical data and biomaterials for future studies. In addition, PLUTO aims to establish a logistical platform for conducting embedded clinical trials. TRIAL REGISTRATION NUMBER: NCT05331118

Exome Sequencing and the Management of Neurometabolic Disorders

BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level. METHODS: To uncover the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization of the discrete components of a patient's clinical and biochemical phenotype) with whole-exome sequencing analysis through a semiautomated bioinformatics pipeline in consecutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenotypes. RESULTS: We performed whole-exome sequencing on samples obtained from 47 probands. Of these patients, 6 were excluded, including 1 who withdrew from the study. The remaining 41 probands had been born to predominantly nonconsanguineous parents of European descent. In 37 probands, we identified variants in 2 genes newly implicated in disease, 9 candidate genes, 22 known genes with newly identified phenotypes, and 9 genes with expected phenotypes; in most of the genes, the variants were classified as either pathogenic or probably pathogenic. Complex phenotypes of patients in five families were explained by coexisting monogenic conditions. We obtained a diagnosis in 28 of 41 probands (68%) who were evaluated. A test of a targeted intervention was performed in 18 patients (44%). CONCLUSIONS: Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%. (Funded by BC Children's Hospital Foundation and others.)

Focus on what works and why it works: bridging the gap between research knowledge and practical knowledge

In their contribution to Perspectives on Medical Education, Ng, Baker, and Leslie provide a novel and clear perspective on faculty development in health profession education (HPE) by conceptualizing it as a space for sharing research and practical knowledge [1]. The process of sharing these two types of knowledge implies that both are mobilized during faculty development and, in the end, become related. Successful faculty development then empowers faculty by enriching their contextualized experiential knowledge with research-based knowledge. According to Ng and colleagues, this enables them to become agents of positive change in their own system.publishe