What's new in childhood tuberculosis.

PURPOSE OF REVIEW: The current review identifies recent advances in the prevention, diagnosis, and treatment of childhood tuberculosis (TB) with a focus on the WHO's updated TB management guidelines released in 2022. RECENT FINDINGS: The COVID-19 pandemic negatively affected global TB control due to the diversion of healthcare resources and decreased patient care-seeking behaviour. Despite this, key advances in childhood TB management have continued. The WHO now recommends shorter rifamycin-based regimens for TB preventive treatment as well as shorter regimens for the treatment of both drug-susceptible and drug-resistant TB. The Xpert Ultra assay is now recommended as the initial diagnostic test for TB in children with presumed TB and can also be used on stool samples. Point-of-care urinary lipoarabinomannan assays are promising as 'rule-in' tests for children with presumed TB living with HIV. Treatment decision algorithms can be used to diagnose TB in symptomatic children in settings with and without access to chest X-rays; bacteriological confirmation should always be attempted. SUMMARY: Recent guideline updates are a key milestone in the management of childhood TB, and the paediatric TB community should now prioritize their efficient implementation in high TB burden countries while generating evidence to close current evidence gaps.

Canadian Physicians' Use of Intramuscular Botulinum Toxin Injections for Shoulder Spasticity: A National Cross-Sectional Survey.

Spasticity of the upper extremity can result in severe pain, along with many complications that can impair a patient's activities of daily living. Failure to treat patients with spasticity of the upper limb can result in a decrease in the range of motion of joints and contracture development, leading to further restriction in daily activities. We aimed to investigate the practice patterns of Canadian physicians who utilize Botulinum toxin type-A (BoNT-A) injections in the management of shoulder spasticity. 50 Canadian Physical Medicine and Rehabilitation (PM&R) physicians completed a survey with an estimated completion rate of (36.23%). The demographics of the survey participants came from a variety of provinces, clinical settings, and patient populations. The most common muscle injected for shoulder adduction and internal rotation spasticity was the pectoralis major, this was followed by latissimus dorsi, pectoralis minor, subscapularis and teres major. Injection of BoNT-A for problematic post-stroke shoulder spasticity was common, with (81.48%) of participants responding that it was always or often used in their management of post-stroke spasticity (PSS). Dosing of BoNT-A demonstrated variability for the muscle injected as well as the type of toxin used. The goals of the patients, caregivers, and practitioners were used to help guide the management of these patients. As a result, the practice patterns of Canadian physicians who treat shoulder spasticity are varied, due to numerous patient factors. Future studies are needed to analyze optimal treatment patterns, and the development of algorithms to standardize care.

2022 American College of Rheumatology/American Association of Hip and Knee Surgeons Guideline for the Perioperative Management of Antirheumatic Medication in Patients With Rheumatic Diseases Undergoing Elective Total Hip or Total Knee Arthroplasty.

OBJECTIVE: To develop updated guidelines for the perioperative management of disease-modifying medications for patients with rheumatic diseases, specifically those with inflammatory arthritis (IA) and those with systemic lupus erythematosus (SLE), undergoing elective total hip arthroplasty (THA) or elective total knee arthroplasty (TKA). METHODS: We convened a panel of rheumatologists, orthopedic surgeons, and infectious disease specialists, updated the systematic literature review, and included currently available medications for the clinically relevant population, intervention, comparator, and outcomes (PICO) questions. We used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology to rate the quality of evidence and the strength of recommendations using a group consensus process. RESULTS: This guideline updates the 2017 recommendations for perioperative use of disease-modifying antirheumatic therapy, including traditional disease-modifying antirheumatic drugs, biologic agents, targeted synthetic small-molecule drugs, and glucocorticoids used for adults with rheumatic diseases, specifically for the treatment of patients with IA, including rheumatoid arthritis and spondyloarthritis, those with juvenile idiopathic arthritis, or those with SLE who are undergoing elective THA or TKA. It updates recommendations regarding when to continue, when to withhold, and when to restart these medications and the optimal perioperative dosing of glucocorticoids. CONCLUSION: This updated guideline includes recently introduced immunosuppressive medications to help decision-making by clinicians and patients regarding perioperative disease-modifying medication management for patients with IA and SLE at the time of elective THA or TKA.

2022 American College of Rheumatology/American Association of Hip and Knee Surgeons Guideline for the Perioperative Management of Antirheumatic Medication in Patients With Rheumatic Diseases Undergoing Elective Total Hip or Total Knee Arthroplasty.

OBJECTIVE: To develop updated guidelines for the perioperative management of disease-modifying medications for patients with rheumatic diseases, specifically those with inflammatory arthritis (IA) and those with systemic lupus erythematosus (SLE), undergoing elective total hip arthroplasty (THA) or elective total knee arthroplasty (TKA). METHODS: We convened a panel of rheumatologists, orthopedic surgeons, and infectious disease specialists, updated the systematic literature review, and included currently available medications for the clinically relevant population, intervention, comparator, and outcomes (PICO) questions. We used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology to rate the quality of evidence and the strength of recommendations using a group consensus process. RESULTS: This guideline updates the 2017 recommendations for perioperative use of disease-modifying antirheumatic therapy, including traditional disease-modifying antirheumatic drugs, biologic agents, targeted synthetic small-molecule drugs, and glucocorticoids used for adults with rheumatic diseases, specifically for the treatment of patients with IA, including rheumatoid arthritis and spondyloarthritis, those with juvenile idiopathic arthritis, or those with SLE who are undergoing elective THA or TKA. It updates recommendations regarding when to continue, when to withhold, and when to restart these medications and the optimal perioperative dosing of glucocorticoids. CONCLUSION: This updated guideline includes recently introduced immunosuppressive medications to help decision-making by clinicians and patients regarding perioperative disease-modifying medication management for patients with IA and SLE at the time of elective THA or TKA.

2022 American College of Rheumatology/American Association of Hip and Knee Surgeons Guideline for the Perioperative Management of Antirheumatic Medication in Patients With Rheumatic Diseases Undergoing Elective Total Hip or Total Knee Arthroplasty.

OBJECTIVE: To develop updated American College of Rheumatology/American Association of Hip and Knee Surgeons guidelines for the perioperative management of disease-modifying medications for patients with rheumatic diseases, specifically those with inflammatory arthritis (IA) and those with systemic lupus erythematosus (SLE), undergoing elective total hip arthroplasty (THA) or elective total knee arthroplasty (TKA). METHODS: We convened a panel of rheumatologists, orthopedic surgeons, and infectious disease specialists, updated the systematic literature review, and included currently available medications for the clinically relevant population, intervention, comparator, and outcomes (PICO) questions. We used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology to rate the quality of evidence and the strength of recommendations using a group consensus process. RESULTS: This guideline updates the 2017 recommendations for perioperative use of disease-modifying antirheumatic therapy, including traditional disease-modifying antirheumatic drugs, biologic agents, targeted synthetic small-molecule drugs, and glucocorticoids used for adults with rheumatic diseases, specifically for the treatment of patients with IA, including rheumatoid arthritis and spondyloarthritis, those with juvenile idiopathic arthritis, or those with SLE who are undergoing elective THA or TKA. It updates recommendations regarding when to continue, when to withhold, and when to restart these medications and the optimal perioperative dosing of glucocorticoids. CONCLUSION: This updated guideline includes recently introduced immunosuppressive medications to help decision-making by clinicians and patients regarding perioperative disease-modifying medication management for patients with IA and SLE at the time of elective THA or TKA.

"No One Manages It; We Just Sign Them Up and Do It": A Whole System Analysis of Access to Healthcare in One Remote Australian Community.

OBJECTIVE: To assess the accessibility, availability and utilisation of a comprehensive range of community-based healthcare services for Aboriginal people and describe contributing factors to providing effective healthcare services from the provider perspective. SETTING: A remote community in New South Wales, Australia. PARTICIPANTS: Aboriginal and non-Aboriginal health and education professionals performing various roles in healthcare provision in the community. DESIGN: Case study. METHODOLOGY: The study was co-designed with the community. A mixed-methods methodology was utilised. Data were gathered through structured interviews. Descriptive statistics were used to analyse the availability of 40 health services in the community, whilst quotations from the qualitative research were used to provide context for the quantitative findings. RESULTS: Service availability was mapped for 40 primary, specialised, and allied health services. Three key themes emerged from the analysis: (1) there are instances of both underservicing and overservicing which give insight into systemic barriers to interagency cooperation; (2) nurses, community health workers, Aboriginal health workers, teachers, and administration staff have an invaluable role in healthcare and improving patient access to health services and could be better supported through further funding and opportunities for specialised training; and (3) visiting and telehealth services are critical components of the system that must be linked to existing community-led primary care services. CONCLUSION: The study identified factors influencing service availability, accessibility and interagency cooperation in remote healthcare services and systems that can be used to guide future service and system planning and resourcing.

Enablers and Barriers to Accessing Healthcare Services for Aboriginal People in New South Wales, Australia.

BACKGROUND: Australia's healthcare system is complex and fragmented which can create challenges in healthcare, particularly in rural and remote areas. Aboriginal people experience inequalities in healthcare treatment and outcomes. This study aimed to investigate barriers and enablers to accessing healthcare services for Aboriginal people living in regional and remote Australia. METHODS: Semi-structured interviews were conducted with healthcare delivery staff and stakeholders recruited through snowball sampling. Three communities were selected for their high proportion of Aboriginal people and diverse regional and remote locations. Thematic analysis identified barriers and enablers. RESULTS: Thirty-one interviews were conducted in the three communities (n = 5 coastal, n = 13 remote, and n = 13 border) and six themes identified: (1) Improved coordination of healthcare services; (2) Better communication between services and patients; (3) Trust in services and cultural safety; (4) Importance of prioritizing health services by Aboriginal people; (5) Importance of reliable, affordable and sustainable services; (6) Distance and transport availability. These themes were often present as both barriers and enablers to healthcare access for Aboriginal people. They were also present across the healthcare system and within all three communities. CONCLUSIONS: This study describes a pathway to better healthcare outcomes for Aboriginal Australians by providing insights into ways to improve access.

Perioperative Botulinum Toxin Injections to Enhance Surgical Outcomes in Patients With Spasticity: Preoperative, Intraoperative, and Postoperative Case Reports.

Spasticity causes an array of disabilities, which in turn may lead to the need for surgical intervention. Spasticity itself may also negatively affect surgical outcomes. This report reviews the potential benefit of perioperative (before, during, or after surgery) botulinum toxin (BoNT) injections for 3 patients with spasticity due to spinal cord injury, stroke, or multiple sclerosis. We discuss perioperative BoNT in 3 time periods: preoperatively, intraoperatively, and postoperatively. The cases demonstrate the use of perioperative BoNT in decreasing pain, improving wound healing, and improving surgical outcomes. We conclude by discussing the potential use of perioperative BoNT for surgical interventions in patients with spasticity and the need for further high-quality research in this field.

Is There an Association Between Ulnar Nerve Hypermobility and Neuropathy at the Elbow?

OBJECTIVE: To systematically review the association between ulnar nerve hypermobility (UNH) at the elbow and ulnar neuropathy (UNE). DATA SOURCES: Cumulative Index to Nursing and Allied Health, MEDLINE, and Embase databases were searched for English language studies published up to July 4, 2020. STUDY SELECTION: We included case-control, cohort, and randomized controlled studies that established the presence or absence of UNH and UNE. Twenty out of 654 studies identified met the inclusion criteria. DATA EXTRACTION: Two reviewers independently extracted data for analysis. Risk of bias and applicability were assessed with the QUADAS-2 tool. DATA SYNTHESIS: We compared rates of UNH between patients diagnosed with and without UNE and found no significant difference. The meta-analysis pooled rate of UNH was 0.37 (95% confidence interval, 0.20-0.57) for those without UNE and 0.33 (95% confidence interval, 0.23-0.45) for those with UNE. CONCLUSIONS: The clinical finding of UNH is unhelpful when assessing for UNE, as the presence of UNH does not make the diagnosis of UNE more likely.

Canadian Physicians' Use of Perioperative Botulinum Toxin Injections to Spastic Limbs: A Cross-sectional National Survey.

OBJECTIVE: To investigate the practice patterns of Canadian physicians who use perioperative botulinum toxin (BoNT) injections to improve surgical outcomes on spastic limbs. DESIGN: A cross-sectional national survey composed of an invitation email and an 18-item questionnaire was disseminated by a national physical medicine and rehabilitation (PMR) society to 138 physician members involved in spasticity management. SETTING: Not applicable. PARTICIPANTS: Twenty-five percent of the participants (N=34) fully completed the survey. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Participants completed an online questionnaire that examined the practice patterns and surgical outcomes associated with perioperative BoNT injections. RESULTS: The majority (n=21; 84%) of Canadian physicians who inject BoNT perioperatively to improve outcomes of surgeries performed on spastic limbs are specialists in PMR practicing in academic settings. Most respondents (74%) used BoNT injections for perioperative treatment for patients with limb spasticity undergoing surgery. Of those surveyed, 65% of physicians used BoNT preoperatively, 21% used BoNT intraoperatively, and 24% used BoNT postoperatively.Of the physicians who performed BoNT injections preoperatively, 6% performed BoNT injections 7 to 12 weeks preoperatively, 32% performed BoNT injections 4 to 6 weeks preoperatively, 47% performed BoNT injections 2 to 3 weeks preoperatively, and 15% performed BoNT injections 0 to 1 week preoperatively. The majority of physicians (85%) responded that injecting BoNT perioperatively may improve a patient's surgical outcome and all of the participants (100%) stated that BoNT did not contribute to any perioperative complications or adverse effects. Qualitative responses emphasized that successful outcomes from the perioperative BoNT were linked to enhanced collaboration with surgeons and that more research is needed to determine the optimal timing of perioperative BoNT. CONCLUSION: Canadian physicians, mostly PMR specialists, administer perioperative BoNT to improve outcomes of surgeries performed on spastic limbs. The optimal timing for perioperative BoNT was suggested to be 2 to 3 weeks before the surgery by 47% of survey respondents. All participating physicians responded that perioperative BoNT did not contribute to any known perioperative complications or adverse events. This study highlights the importance of conducting more robust research to better understand optimal timing for perioperative BoNT injection, enhancing collaboration between physicians and surgeons, and increasing awareness of perioperative BoNT when planning for surgeries on spastic limbs.

Atrial Fibrillation in Indigenous Australians: A Multisite Screening Study Using a Single-Lead ECG Device in Aboriginal Primary Health Settings.

BACKGROUND: Circulatory diseases continue to be the greatest cause of mortality for Australian Aboriginal and Torres Strait Islander people, and a major cause of persistently lower life expectancy compared with non-Aboriginal Australians. The limited information that exists on atrial fibrillation (AF) prevalence in Aboriginal and Torres Strait Islander communities is mostly based on hospital admission data. This shows AF as principal or additional admission diagnosis was 1.4 times higher compared to non-Aboriginal Australians, a higher incidence of AF across the adult life span after age 20 years and a significantly higher prevalence among younger patients. Our study estimates the first national community prevalence and age distribution of AF (including paroxysmal) in Australian Aboriginal people. A handheld single-lead electrocardiograph (ECG) device (iECG), known to be acceptable in this population, was used to record participant ECGs. METHODS: This co-designed, descriptive cross-sectional study was conducted in partnership with 16 Aboriginal Community Controlled Health organisations at their facilities and/or with their services delivered elsewhere. The study was also conducted at one state community event. Three (3) Australian jurisdictions were involved: New South Wales, Western Australia and the Northern Territory. Study sites were located in remote, regional and urban areas. Opportunistic recruitment occurred between June 2016 and December 2017. People <45 years of age were excluded. RESULTS: Thirty (30) of 619 Aboriginal people received a 'Possible AF' and 81 an 'Unclassified' result from a hand-held smartphone ECG device. A final diagnosis of AF was made in 29 participants (4.7%; 95%CI 3.0-6.4%), 25 with known AF (five paroxysmal), and four with previously unknown AF. Three (3) of the four with unknown AF were aged between 55-64 years, consistent with a younger age of AF onset in Aboriginal people. Estimated AF prevalence increased with age and was higher in those aged >55 years than the general population (7.2% compared with 5.4%). Slightly more men than women were diagnosed with AF. CONCLUSIONS: This study is a significant contribution to the evidence which supports screening for AF in Aboriginal and Torres Strait Islander people commencing at a younger age than as recommended in the Australian guidelines (>65 years). We recommend the age of 55 years. Consideration should be given to the inclusion of AF screening in the Australian Government Department of Health annual 'Aboriginal and Torres Strait Islander Health Assessment'. CLINICAL TRIAL REGISTRATION: ACTRN12616000459426.

Peri-operative Botulinum Neurotoxin injection to improve outcomes of surgeries on spastic limbs: A systematic review.

Our objective was to systematically review literature regarding the rationale and current evidence for peri-operative Botulinum Neurotoxin (BoNT) injection to improve outcomes of surgeries on spastic limbs. We conducted a systematic search of databases MEDLINE, EMBASE, and Cochrane Central Register of Controlled until March 2020, using the PRISMA guidelines. After assessing all titles and abstracts against inclusion criteria, full texts were reviewed for studies of potential interest. The inclusion criteria were studies on humans with any study design, published in all languages. Participants had to have underlying limb spasticity and be scheduled to undergo surgery on one or more spastic limb(s). BoNT had to be administered peri-operatively to improve surgical outcomes and not solely for the purpose of alleviating spasticity. The risk of bias was evaluated using the Physiotherapy Evidence Database (PEDro) scoring system for randomized controlled trials (RCTs) and the Downs and Black tool for RCTs and non-randomized trials. Further, the level of evidence was evaluated using a five-level scale (simplified form of Sackett). Five studies met our inclusion criteria comprising a total of 90 participants, of both pediatric and adult age groups, with underlying limb spasticity, who received BoNT perioperatively to improve outcomes of the surgeries performed on spastic limbs. Interventions were intramuscular BoNT injection prior to, at the time of, or after surgery on a spastic limb for the purpose of improving surgical outcomes, and not solely for alleviating muscle spasticity. Outcome measures were surgical success/failure, post-operative pain and analgesic use, sleep quality, adverse events, spasticity control e.g. Modified Ashworth Scale. Our literature search yielded 5 articles that met the inclusion criteria. Current evidence supports peri-operative injection of BoNT to improve outcomes of surgeries performed on spastic limbs. There is level 1 evidence that BoNT administered pre-operatively is effective for reducing pain, spasticity, and analgesic use in pediatric patients with cerebral palsy (CP). This is supported by level 4 evidence from a retrospective case series. Level 5 evidence from case reports highlights the potential for the use of BONT in the peri-operative period. There is level 1 evidence that BoNT administered intra-operatively is not effective for reducing pain and analgesic use in pediatric patients with CP. This lack of benefit may reflect sub-optimal timing of injections, different methods of injection, different timing of the primary outcome measure, and/or differences in adjunctive therapies, but further research is required.

Radial palsy in an individual with high-level chronic spinal cord injury.

INTRODUCTION: Prolonged compression is a common cause of radial neuropathy in able-bodied individuals but has not been reported in individuals with chronic SCI. This is despite the fact that individuals with SCI may be at increased risk of peripheral nerve injuries due to wheelchair mobility and baseline sensory deficits. Furthermore, diagnosis of peripheral nerve injury poses a unique challenge in this population because symptoms and signs are superimposed on pre-existing central deficits. CASE PRESENTATION: We present the case of a 48-year-old man with a C6 AIS A SCI from a motor vehicle accident 22 years earlier who had a new onset compressive radial neuropathy. At initial assessment he complained of paresthesia along his lateral right arm accompanied by new onset wrist-drop. Subsequent radial nerve conduction studies revealed severe reductions in amplitude for sensory and motor action potentials. The patient was managed with mobility exercises and vitamin B supplementation and showed full recovery of motor and sensory function to baseline levels on follow-up 4 months after the injury. DISCUSSION: The electrophysiologic profile of this patient is illustrative of severe nerve compression for an extended time period. Unlike able-bodied individuals who can reposition themselves to alleviate nerve compression, individuals with SCI may be unaware of nerve compression or unable to reposition themselves. This highlights the need for precautionary measures such as maneuvers and devices to provide trunk and limb stability along with the use of medical alert devices that allow individuals to access timely help when unattended.

An improved pig reference genome sequence to enable pig genetics and genomics research.

BACKGROUND: The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. RESULTS: We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. CONCLUSIONS: These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs.

Feasibility and acceptability of opportunistic screening to detect atrial fibrillation in Aboriginal adults.

OBJECTIVE: Examine the feasibility and acceptability of an electrocardiogram (ECG) attached to a mobile phone (iECG) screening device for atrial fibrillation (AF) in Aboriginal Controlled Community Health Services (ACCHS) and other community settings. METHODS: Semi-structured interviews were conducted with ACCHS staff in urban, rural and remote communities in three Australian states/territories. Quantitative and qualitative questions identified the enabling factors and barriers for staff and Aboriginal patients' receptiveness to the device. Mean quantitative scores and their standard deviation were calculated in Microsoft Excel and qualitative questions were thematically analysed. RESULTS: Eighteen interviews were conducted with 23 staff across 11 ACCHS. Quantitative data found staff were confident in providing iECG screening and managing the referral pathway, and thought the process was beneficial for patients. Qualitative data highlighted the usefulness of the device to undertake opportunistic screening and acceptability in routine practice, and provided opportunities to engage patients in education around AF. CONCLUSION: The iECG device was well accepted within ACCHSs and was feasible to use to screen for AF among Aboriginal patients. Implications for public health: The device can be used in clinical and community settings to screen Aboriginal people for atrial fibrillation to help reduce rates of stroke and other cardiovascular diseases.

Accessibility of Primary, Specialist, and Allied Health Services for Aboriginal People Living in Rural and Remote Communities: Protocol for a Mixed-Methods Study.

BACKGROUND: Primary, specialist, and allied health services can assist in providing equitable access in rural and remote areas, where higher proportions of Aboriginal and Torres Strait Islander people (Aboriginal Australians) reside, to overcome the high rates of chronic diseases experienced by this population group. Little is currently known about the location and frequency of services and the extent to which providers believe delivery is occurring in a sustained and coordinated manner. OBJECTIVE: The objective of this study will be to determine the availability, accessibility, and level of coordination of a range of community-based health care services to Aboriginal people and identify potential barriers in accessing health care services from the perspectives of the health service providers. METHODS: This mixed-methods study will take place in 3 deidentified communities in New South Wales selected for their high population of Aboriginal people and geographical representation of location type (coastal, rural, and border). The study is designed and will be conducted in collaboration with the communities, Aboriginal Community Controlled Health Services (ACCHSs), and other local health services. Data collection will involve face-to-face and telephone interviews with participants who are health and community professionals and stakeholders. Participants will be recruited through snowball sampling and will answer structured, quantitative questions about the availability and accessibility of primary health care, specialist medical and allied health services and qualitative questions about accessing services. Quantitative data analysis will determine the frequency and accessibility of specific services across each community. Thematic and content analysis will identify issues relating to availability, accessibility, and coordination arising from the qualitative data. We will then combine the quantitative and qualitative data using a health ecosystems approach. RESULTS: We identified 28 stakeholder participants across the ACCHSs for recruitment through snowball sampling (coastal, n=4; rural, n=12; and border, n=12) for data collection. The project was funded in 2017, and enrolment was completed in 2017. Data analysis is currently under way, and the first results are expected to be submitted for publication in 2019. CONCLUSIONS: The study will give an indication of the scope and level of coordination of primary, specialist, and allied health services in rural communities with high Aboriginal populations from the perspectives of service providers from those communities. Identification of factors affecting the availability, accessibility, and coordination of services can assist ways of developing and implementing culturally sensitive service delivery. These findings could inform recommendations for the provision of health services for Aboriginal people in rural and remote settings. The study will also contribute to the broader literature of rural and remote health service provision. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/11471.

Lower Limb Prosthetic Rehabilitation in Canada: A Survey Study.

Purpose: This study describes prosthetic rehabilitation services provided to individuals who have had a lower limb amputation in Canada. Method: This cross-sectional survey study used an online survey to collect data from facilities that provide lower limb prosthetic rehabilitation; it included questions about approaches and types of service, therapies, focus of service, and health care providers. One representative from each facility was asked to complete the survey. Results: Of the 65 identified eligible facilities, 59 completed the survey (response rate = 90.8%). The majority of facilities (n = 39; 66.1%) indicated that they provided both in-patient and outpatient prosthetic rehabilitation services. All facilities provided balance, coordination, and gait training as well as prosthetic fit education. Most facilities indicated that they had a physical therapist (n = 58; 93.8%), an occupational therapist (n = 52; 88.1%), and a prosthetist (n = 52; 88.1%) on their team. Conclusions: The majority of the facilities surveyed provided both in-patient and outpatient services and had specialized health care provider teams. Future surveys are required to collect more specific information about prosthetic rehabilitation in Canada.

Objectif : décrire les services de réadaptation avec prothèse du Canada pour les personnes amputées des membres inférieurs. Méthodologie : une étude transversale en ligne a permis d'amasser des données auprès d'établissements qui offrent une réadaptation avec prothèse des membres inférieurs. Elle incluait des questions sur les approches et les types de services, les traitements, l'objet des services et les professionnels de la santé. Un représentant de chaque établissement était invité à remplir le sondage. Résultats : des 65 établissements admissibles répertoriés, 59 ont rempli le sondage (taux de réponse = 90,8 %). La majorité des établissements (n = 39, 66,1 %) a indiqué qu'il offrait des services de réadaptation avec prothèse aux patients hospitalisés et ambulatoires. Tous les établissements offraient un entraînement sur l'équilibre, la coordination et la démarche et de l'information sur l'ajustement des prothèses. La plupart des établissements indiquaient qu'ils comptaient un physiothérapeute (n = 58, 93,8 %), un ergothérapeute (n = 52, 88,1 %) et un prothésiste (n = 52, 88,1 %) au sein de leur équipe. Conclusions : la majorité des établissements sondés offraient à la fois des services aux patients hospitalisés et ambulatoires et étaient dotés d'équipes soignantes spécialisées. Il faudra réaliser d'autres sondages pour colliger de l'information plus précise sur la réadaptation avec prothèse au Canada.

Balancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigs.

Balancing selection provides a plausible explanation for the maintenance of deleterious alleles at moderate frequency in livestock, including lethal recessives exhibiting heterozygous advantage in carriers. In the current study, a leg weakness syndrome causing mortality of piglets in a commercial line showed monogenic recessive inheritance, and a region on chromosome 15 associated with the syndrome was identified by homozygosity mapping. Whole genome resequencing of cases and controls identified a mutation causing a premature stop codon within exon 3 of the porcine Myostatin (MSTN) gene, similar to those causing a double-muscling phenotype observed in several mammalian species. The MSTN mutation was in Hardy-Weinberg equilibrium in the population at birth, but significantly distorted amongst animals still in the herd at 110 kg, due to an absence of homozygous mutant genotypes. In heterozygous form, the MSTN mutation was associated with a major increase in muscle depth and decrease in fat depth, suggesting that the deleterious allele was maintained at moderate frequency due to heterozygous advantage (allele frequency, q = 0.22). Knockout of the porcine MSTN by gene editing has previously been linked to problems of low piglet survival and lameness. This MSTN mutation is an example of putative balancing selection in livestock, providing a plausible explanation for the lack of disrupting MSTN mutations in pigs despite many generations of selection for lean growth.

Functional Annotation of the Transcriptome of the Pig, Sus scrofa, Based Upon Network Analysis of an RNAseq Transcriptional Atlas.

The domestic pig (Sus scrofa) is both an economically important livestock species and a model for biomedical research. Two highly contiguous pig reference genomes have recently been released. To support functional annotation of the pig genomes and comparative analysis with large human transcriptomic data sets, we aimed to create a pig gene expression atlas. To achieve this objective, we extended a previous approach developed for the chicken. We downloaded RNAseq data sets from public repositories, down-sampled to a common depth, and quantified expression against a reference transcriptome using the mRNA quantitation tool, Kallisto. We then used the network analysis tool Graphia to identify clusters of transcripts that were coexpressed across the merged data set. Consistent with the principle of guilt-by-association, we identified coexpression clusters that were highly tissue or cell-type restricted and contained transcription factors that have previously been implicated in lineage determination. Other clusters were enriched for transcripts associated with biological processes, such as the cell cycle and oxidative phosphorylation. The same approach was used to identify coexpression clusters within RNAseq data from multiple individual liver and brain samples, highlighting cell type, process, and region-specific gene expression. Evidence of conserved expression can add confidence to assignment of orthology between pig and human genes. Many transcripts currently identified as novel genes with ENSSSCG or LOC IDs were found to be coexpressed with annotated neighbouring transcripts in the same orientation, indicating they may be products of the same transcriptional unit. The meta-analytic approach to utilising public RNAseq data is extendable to include new data sets and new species and provides a framework to support the Functional Annotation of Animals Genomes (FAANG) initiative.