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1.
Pediatr Exerc Sci ; : 1-11, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38171358

RESUMO

PURPOSE: This study evaluated screening tasks able to identify children with medical conditions or disabilities who may benefit from physical literacy. METHOD: Children completed ≤20 screening tasks during their clinic visit and then the Canadian Assessment of Physical Literacy (2nd edition) at a separate visit. Total Canadian Assessment of Physical Literacy scores <30th percentile were categorized as potentially needing physical literacy support. Receiver operator characteristic curves identified assessment cut points with 80% sensitivity and 40% specificity relative to total physical literacy scores. RESULTS: 223 children (97 girls; 10.1 [2.6] y) participated. Physical activity adequacy, predilection, and physical competence achieved ≥80% sensitivity and ≥40% specificity in both data sets. Adequacy ≤ 6.5 had 86% to 100% sensitivity and 48% to 49% specificity. Daily screen time >4.9 hours combined with Adequacy ≤6.15 had 88% to 10% sensitivity and 53% to 56% specificity. CONCLUSIONS: Activity adequacy, alone or with screen time, most effectively identified children likely to benefit from physical literacy support. Adequacy and screen time questionnaires are suitable for clinical use. Similar results regardless of diagnosis suggest physical competence deficits are not primary determinants of active lifestyles. Research to enhance screening specificity is required.

2.
Am J Med Genet A ; 191(12): 2890-2897, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37654102

RESUMO

Mitochondrial disorders can present with a wide range of clinical and biochemical phenotypes. Mitochondrial DNA variants may be influenced by factors such as degree of heteroplasmy and tissue distribution. We present a four-generation family in which 10 individuals carry a pathogenic mitochondrial variant (m.5537_5538insT, MT-TW gene) with differing levels of heteroplasmy and clinical features. This genetic variant has been documented in two prior reports, both in individuals with Leigh syndrome. In the current family, three individuals have severe mitochondrial symptoms including Leigh syndrome (patient 1, 100% in blood), MELAS (patient 2, 97% heteroplasmy in muscle), and MELAS-like syndrome (patient 3, 50% heteroplasmy in blood and 100% in urine). Two individuals have mild mitochondrial symptoms (patient 4, 50% in blood and 67% in urine and patient 5, 50% heteroplasmy in blood and 30% in urine). We observe that this variant is associated with multiple mitochondrial presentations and phenotypes, including MELAS syndrome for which this variant has not previously been reported. We also demonstrate that the level of heteroplasmy of the mitochondrial DNA variant correlates with the severity of clinical presentation; however, not with the specific mitochondrial syndrome.


Assuntos
Doença de Leigh , Síndrome MELAS , Doenças Mitocondriais , Humanos , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Síndrome MELAS/complicações , Doença de Leigh/diagnóstico , Doença de Leigh/genética , Doença de Leigh/complicações , Mitocôndrias/genética , DNA Mitocondrial/genética , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Mitocondriais/complicações
3.
J Med Genet ; 60(12): 1224-1234, 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-37586838

RESUMO

BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature. RESULTS: We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones. CONCLUSION: This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11 variants in skeletal and brain development.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Anormalidades Dentárias , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/genética , Facies , Fenótipo , Proteínas Repressoras/genética , Fatores de Transcrição , Neuroimagem
4.
BMJ Open ; 12(9): e063104, 2022 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-36167374

RESUMO

OBJECTIVE: Resident duty hour (RDH) restrictions in postgraduate medical education is a controversial yet important topic for study. There is limited literature on authentic trainee perceptions surrounding RDH restrictions to inform evaluation and future planning. Online forums are a widely accessible, yet underused resource, for insight into trainee perceptions. Our objective was to qualitatively assess trainee perceptions of RDH restrictions on online discussion forums. SETTING: Online discussion forums; Premed101 (Canadian forum) and Student Doctor Network (SDN) (American forum). PARTICIPANTS: 6630 posts from 161 discussion threads; comprising 429 posts in 14 threads from Premed101 and 6201 posts in 147 threads from SDN. Posters included medical students, residents and attending physicians. DESIGN: Data were analysed inductively and iteratively to create themes and subthemes. Cocoding, consensus-based decision making and an audit trail were used to ensure trustworthiness. RESULTS: Key findings distilled across both forums include: the relationship between hours worked and competence, the inapplicability of blanket RDH restrictions to all specialties and the inter-relationship between fatigue and patient safety. Discussions of RDH restriction compliance and perceived consequence for the reporting of violations were also featured on the American SDN forum. CONCLUSIONS: The findings of this study reveal multiple themes pertinent to the implementation and revision of RDH restrictions. The most prominent theme was the inapplicability of blanket restrictions on duty hours theme due to the diversity of training needs across specialties and the environmental context of training programmes. Other discussions included the inter-relationship of patient safety and resident competence with duty hours. Lastly, concerns regarding the lack of transparency and psychological safety surrounding RDH violations, were discussed.


Assuntos
Educação Médica , Internato e Residência , Estudantes de Medicina , Canadá , Humanos , Admissão e Escalonamento de Pessoal , Estudantes de Medicina/psicologia , Estados Unidos , Carga de Trabalho
5.
Front Pediatr ; 10: 753554, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35783308

RESUMO

Purpose: To examine the publication patterns of pediatric neurology articles in general pediatric, general neurology, and neurology subspecialty journals using a bibliometric approach. Methods: The top 5 journals in general pediatrics, general neurology and neurology subspecialties were identified using the 2017 Journal Citations Report (JCR). For general pediatric journals, we selected 4 pediatric subspecialties for comparison of publication patterns with neurology: immunology, endocrinology, gastroenterology, and respirology. For general neurology and neurology subspecialty journals, we searched both the top 5 neurology and neurology subspecialty journals for pediatric articles. Using Ovid Medline, we identified articles published between 2009-2017. Results: With regards to child neurology-based articles, 1501 were published in general pediatrics journals, 643 in general neurology journals and 685 in neurology subspecialty journals. Examination of the top pediatric journals revealed that Pediatrics published the most neurology-based articles. Neurology-based studies were published more frequently than other pediatric subspecialty studies. Of the top general neurology Neurology published the most child neurology-based articles, while Epilepsia published the most child neurology-based articles out of neurology subspecialty journals. Cohort studies were the most frequent study type across all journals. Conclusion: Our study revealed that child neurology articles are published more often in pediatric journals as opposed to general neurology and neurology subspecialty journals. We also found that in general pediatric journals, neurology-based articles are published more frequently compared to other specialties. Our results provide guidance to authors when considering submission of their pediatric neurology research.

6.
BMC Med Educ ; 22(1): 45, 2022 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-35045845

RESUMO

BACKGROUND: It is unclear how often frontline clinical teachers are using this literature and its evidence base in teaching and assessment. Our study purpose was to examine postgraduate program director perspectives on the utilization and integration of evidence-based medical education literature in their teaching and assessment practices. METHODS: The authors conducted semi-structured telephone interviews with a convenience sample of current and former program directors from across Canada. Interviews were transcribed and analyzed inductively to distil pertinent themes. RESULTS: In 2017, 11 former and current program directors participated in interviews. Major themes uncovered included the desire for time-efficient and easily adaptable teaching and assessment tools. Participants reported insufficient time to examine the medical education literature, and preferred that it be 'synthesized for them'. (i.e., Best evidence guidelines). Participants recognised continuing professional development and peer to peer sharing as useful means of education about evidence-based tools. Barriers to the integration of the literature in practice included inadequate time, lack of financial compensation for teaching and assessment, and the perception that teaching and assessment of trainees was not valued in academic promotion. DISCUSSION: Faculty development offices should consider the time constraints of clinical teachers when planning programming on teaching and assessment. To enhance uptake, medical education publications need to consider approaches that best meet the needs of a targeted audiences, including frontline clinical teachers. This may involve novel methods and formats that render evidence and findings from their studies more easily 'digestible' by clinical teachers to narrow the knowledge to practice gap.


Assuntos
Educação Médica , Canadá , Docentes , Humanos , Pesquisa Qualitativa , Ensino
7.
J Child Neurol ; 37(4): 298-302, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35040697

RESUMO

Objectives: To examine the clinical features, course, and management of children at age <2 years with tremor. Methods:Retrospective chart review of all patients aged <2 years presenting to a tertiary care neurology clinic between 2005 and 2019. Descriptive and inferential statistics were used. Results: We identified 29 children with tremor presenting at age <2 years. The mean age at onset, diagnosis and follow-up was 3.22 months (SD 3.63), 6.97 months (SD 5.44), and 10.83 months (SD 5.29), respectively. Tremor was more noticeable surrounding eating, sleep, or extreme emotions. The tremor did not interfere with development or require pharmacologic treatment in any patient. At follow-up, 31% had complete resolution of their tremor with the rest being stable or improved. Patients with resolved tremor were statistically more likely to have a younger age of diagnosis (F = 3.895, P = .033), no medical history (P = .029, χ2 = 7.112), and leg tremor (P = .028, χ2 = 7.143). Conclusion: Tremor with onset at age <2 years follows a benign course, with many patients requiring no treatment and outgrowing the disorder.


Assuntos
Tremor , Criança , Pré-Escolar , Humanos , Lactente , Estudos Retrospectivos , Atenção Terciária à Saúde , Tremor/diagnóstico , Tremor/tratamento farmacológico
8.
Can Med Educ J ; 12(2): e57-e62, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33995720

RESUMO

BACKGROUND: Researchers have shown that clinical educators feel insufficiently informed about how to teach and assess the CanMEDS roles. Thus, our objective was to examine the extent to which program directors utilize evidence-based tools and the medical education literature in teaching and assessing the CanMEDS roles. METHODS: In 2016, the authors utilized an online questionnaire to survey 747 Canadian residency program directors (PD's) of Royal College of Physicians and Surgeons of Canada (RCPSC) accredited programs. RESULTS: Overall, 186 PD's participated (24.9%). 36.6% did not know whether the teaching strategies they used were evidence-based and another third (31.9%) believed they were "not at all" or "to a small extent" evidence-based. Similarly, 31.8% did not know whether the assessment tools they used were evidence-based and another third (39.7%) believed they were "not at all" or "to a small extent" evidence-based. PD's were aware of research on teaching strategies (62.4%) and assessment tools (51.9%), but felt they did not have sufficient time to review relevant literature (72.1% for teaching and 64.1% for assessment). CONCLUSIONS: Canadian PD's reported low awareness of evidence-based tools for teaching and assessment, implying a potential knowledge translation gap in medical education research.


CONTEXTE: La recherche montre que les éducateurs en médecine se sentent insuffisamment informés sur la façon d'enseigner et d'évaluer les rôles CanMEDS. Notre objectif était donc d'examiner dans quelle mesure les directeurs de programmes utilisent des outils fondés sur les données probantes et la littérature en éducation médicale pour enseigner et évaluer les rôles CanMEDS. MÉTHODES: En 2016, les auteurs ont utilisé un questionnaire en ligne pour interroger 747 directeurs de programmes de résidence (DP) agréés par le Collège royal des médecins et chirurgiens du Canada (CRMCC). RÉSULTATS: Parmi les 186 (24,9 %) DP qui ont participé au sondage, 36,6 % ne savaient pas si les stratégies d'enseignement qu'ils utilisaient étaient fondées sur des données probantes et un tiers (31,9 %) estimaient qu'elles n'étaient « pas du tout ¼ fondées sur des données probantes ou qu'elles ne l'étaient que « dans une faible mesure ¼. De surcroît, 31,8 % ne savaient pas si les outils d'évaluation qu'ils utilisaient étaient fondés sur des données probantes et un tiers (39,7 %) estimait qu'ils l'étaient « dans une faible mesure ¼ ou qu'ils ne l'étaient « pas du tout ¼. Les DP ont déclaré qu'ils étaient au courant de l'existence d'études sur les stratégies d'enseignement (62,4 %) et sur les outils d'évaluation (51,9 %), mais qu'ils manquaient de temps pour se familiariser avec la documentation pertinente (72,1 % pour l'enseignement et 64,1 % pour l'évaluation). CONCLUSIONS: Les DP au Canada sont peu familiers avec les outils d'enseignement et d'évaluation fondés sur les données probantes, ce qui suggère un transfert des connaissances lacunaire de la recherche à l'éducation médicale.

9.
JAMA Netw Open ; 4(4): e215840, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33856477

RESUMO

Importance: A significant portion of neurology literature is published in general medicine journals. Despite this, a detailed examination of publication patterns of neurology articles in these journals has not yet been carried out. Objective: To examine the publication patterns of neurology articles in general medicine journals during a 10-year period using a bibliometric approach. Design, Setting, and Participants: This cross-sectional bibliometric analysis identified the top 5 general medicine journals using the 2017 Journal Citations Report. Four other medical subspecialties (ie, immunology, endocrinology, gastroenterology, and pulmonology) were selected for comparison of publication patterns with neurology. Using MEDLINE, the 5 journals were searched for articles published between 2009 and 2018 that were indexed with the following MeSH terms: nervous system diseases, immune system diseases, endocrine system diseases, gastrointestinal diseases, and respiratory tract diseases. Data analysis was conducted from February 2019 to December 2020. Main Outcomes and Measures: Publications were characterized by journal, specialty, and study design. These variables were used for comparison of publication numbers. Results: The general medicine journals with the 5 highest journal impact factors (JIF) were New England Journal of Medicine (NEJM; JIF 79.3), Lancet (JIF 53.3), JAMA (JIF 47.7), BMJ (JIF 23.6), and PLOS Medicine (JIF 11.7). Our bibliometric search yielded 3719 publications, of which 1098 (29.5%) were in neurology. Of these 1098 neurology publications, 317 (28.9%) were published in NEJM, 205 (18.7%) in Lancet, 284 (25.9%) in JAMA, 214 (19.5%) in BMJ, and 78 (7.1%) in PLOS Medicine. Randomized clinical trials were the most frequent neurology study type in general medicine journals (519 [47.3%]). The number of publications in each of the other specialties were as follows: immunology, 817; endocrinology, 633; gastroenterology, 353; and pulmonology, 818. Conclusions and Relevance: The results of this study provide some guidance to authors regarding where they may wish to consider submitting their neurology research. Compared with other specialties, neurology-based articles are published more frequently in general medicine journals.


Assuntos
Bibliometria , Neurologia/estatística & dados numéricos , Publicações Periódicas como Assunto/estatística & dados numéricos , Estudos Transversais , Medicina Geral , Humanos , Fator de Impacto de Revistas , Publicações Periódicas como Assunto/classificação
10.
Appl Physiol Nutr Metab ; 46(9): 1073-1082, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33689492

RESUMO

To determine the physical literacy, defined as the capability for a physically active lifestyle, of children with medical conditions compared with healthy peers, this multicenter cross-sectional study recruited children with medical conditions from cardiology, neurology (including concussion), rheumatology, mental health, respirology, oncology, hematology, and rehabilitation (including cerebral palsy) clinics. Participants aged 8-12 years (N = 130; mean age: 10.0 ± 1.44 years; 44% female) were randomly matched to 3 healthy peers from a normative database, based on age, gender, and month of testing. Total physical literacy was assessed by the Canadian Assessment of Physical Literacy, a validated assessment of physical literacy measuring physical competence, daily behaviour, knowledge/understanding, and motivation/confidence. Total physical literacy mean scores (/100) did not differ (t(498) = -0.67; p = 0.44) between participants (61.0 ± 14.2) and matched healthy peers (62.0 ± 10.7). Children with medical conditions had lower mean physical competence scores (/30; -6.5 [-7.44 to -5.51]; p < 0.001) but higher mean motivation/confidence scores (/30; 2.6 [1.67 to 3.63]; p < 0.001). Mean daily behaviour and knowledge/understanding scores did not differ from matches (/30; 1.8 [0.26 to 3.33]; p = 0.02;/10; -0.04 [-0.38 to 0.30]; p = 0.81; respectively). Children with medical conditions are motivated to be physically active but demonstrate impaired movement skills and fitness, suggesting the need for targeted interventions to improve their physical competence. Novelty: Physical literacy in children with diverse chronic medical conditions is similar to healthy peers. Children with medical conditions have lower physical competence than healthy peers, but higher motivation and confidence. Physical competence (motor skill, fitness) interventions, rather than motivation or education, are needed for these youth.


Assuntos
Doença Crônica/psicologia , Exercício Físico , Conhecimentos, Atitudes e Prática em Saúde , Estilo de Vida Saudável , Canadá , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Masculino , Motivação , Aptidão Física , Autoimagem
11.
Perspect Med Educ ; 10(2): 88-94, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33270186

RESUMO

INTRODUCTION: The informal curriculum-an essential complement to the formal curriculum-is delivered to medical trainees through learning outside the classroom. We sought to explore nurse-mediated aspects of trainee education in the informal curriculum in obstetrics and gynecology (OBGYN), as well as nursing perceptions of their role in medical trainee education. METHODS: Naturalistic, non-participant observations (40 h) were performed on a tertiary care birthing unit (BU) to document teaching and learning interactions. Insights gleaned from observations informed subsequent semi-structured interviews with BU nurses (n = 10) and focus group discussions with third-year medical students who had completed an OBGYN rotation (n = 10). Thematic analysis was conducted across data sets. RESULTS: Conceptions of nurse-mediated education differed considerably between nurses and trainees. Nurses were widely acknowledged as gatekeepers and patient advocates by both groups, although this role was sometimes perceived by trainees as impacting on learning. Interest and engagement were noted as mediators of teaching, with enhanced access to educational opportunities reported by trainees who modelled openness and enthusiasm for learning. Nurse-driven education was frequently tailored to the learner's level, with nurses feeling well positioned to share procedural knowledge or hard skills, soft skills (i.e. bedside manners), and clinical insights gained from bedside practice. DISCUSSION: Nurses are instrumental in the education of medical trainees; however, divergence was noted in how this role is enacted in practice. Given the valuable teaching resource BU nurses present, more emphasis should be placed on interprofessional co-learning and the actualization of this role within the informal curriculum.


Assuntos
Papel do Profissional de Enfermagem/psicologia , Enfermeiras e Enfermeiros/normas , Percepção , Estudantes de Medicina/psicologia , Humanos , Capacitação em Serviço/métodos , Enfermeiras e Enfermeiros/estatística & dados numéricos , Pesquisa Qualitativa , Estudantes de Medicina/estatística & dados numéricos
12.
Eur Child Adolesc Psychiatry ; 30(5): 711-719, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32372272

RESUMO

The purpose of this study was to examine associations between physical activity, sleep and symptom severity in children with tic disorders. Children with tic disorders wore the GeneActiv device, a wrist-worn accelerometer that measures physical activity intensity and sleep/wake parameters continuously for seven days, and completed questionnaires on sleep quality, exercise and severity of tics, ADHD, obsessive-compulsive behaviours, anxiety and depression. 110 children participated in the study. Children with more severe tics had significantly more frequent comorbid diagnoses, greater impairment in subjective sleep measures, greater sedentary activity time and less light, moderate and vigorous activity time (all p < 0.05). There was a significant negative correlation between light, moderate and vigorous physical activity and the severity of tics (- 0.22, p = 0.04), obsessive compulsive behaviours (- 0.22, p = 0.03), anxiety (- 0.35, p = 0.0005) and depression (- 0.23, p = 0.03). There was no correlation between objective sleep time, sleep efficiency and symptom severity. Subjective sleep quality was positively correlated with all symptom severity measures, with the strongest correlation with ADHD severity (0.42, p < 0.00001). The results of this observational study indicate a small, but significant relationship between activity and sleep measures and the severity of the main symptom domains present in tic disorders.


Assuntos
Exercício Físico/psicologia , Neuropsiquiatria/métodos , Transtornos do Sono-Vigília/psicologia , Síndrome de Tourette/complicações , Adolescente , Criança , Comorbidade , Feminino , Humanos , Masculino
13.
Paediatr Child Health ; 26(8): 458-461, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34987676

RESUMO

Disruptive behaviour disorders (DBDs)-which can include or be comorbid with disorders such as attention-deficit hyperactivity disorder, oppositional defiant disorder, conduct disorder and disruptive mood dysregulation disorder-are commonly seen in paediatric practice. Given increases in the prescribing of atypical antipsychotics for children and youth, it is imperative that paediatric trainees in Canada receive adequate education on the optimal treatment of DBDs. We describe the development, dissemination, and evaluation of a novel paediatric resident curriculum for the assessment and treatment of DBDs in children and adolescents. Pre-post-evaluation of the curriculum showed improved knowledge in participants.

14.
Brain ; 143(11): 3242-3261, 2020 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-33150406

RESUMO

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5-37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden's Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, >50% of subjects showed BFMDRS-M and BFMDRS-D improvements of >30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n = 8), improvement of >30% was maintained in 5/8 and 3/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.


Assuntos
Distúrbios Distônicos/genética , Histona-Lisina N-Metiltransferase/genética , Adolescente , Adulto , Criança , Pré-Escolar , Deleção Cromossômica , Estudos de Coortes , Simulação por Computador , Estimulação Encefálica Profunda , Progressão da Doença , Distúrbios Distônicos/terapia , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/genética , Feminino , Retardo do Crescimento Fetal/genética , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/terapia , Humanos , Doenças da Laringe/etiologia , Doenças da Laringe/terapia , Masculino , Mutação , Mutação de Sentido Incorreto , Fenótipo , Qualidade de Vida , Resultado do Tratamento , Adulto Jovem
15.
Child Neurol Open ; 7: 2329048X20934914, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32613026

RESUMO

Exposure to n-hexane or toluene-containing solvents such as glue or gasoline can produce clinical symptoms and neurophysiological findings that can mimic chronic inflammatory demyelinating polyneuropathy. The authors present a case of a boy with severe sensorimotor polyneuropathy with demyelinating features. Cerebrospinal fluid testing and magnetic resonance imaging spine did not show findings typical of chronic inflammatory demyelinating polyneuropathy. His lack of response to immunosuppressive therapy prompted a nerve biopsy which was instrumental in confirming a diagnosis of chronic organic solvent exposure, subsequently confirmed on history. This case highlights the importance of additional testing to ensure diagnostic certainty which allows appropriate treatment and/or disease management to be tailored appropriately including in this instance, the involvement of mental health counseling and avoidance of immunosuppressant medication.

16.
Ann Clin Transl Neurol ; 7(12): 2467-2474, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33506622

RESUMO

Febrile-infection related epilepsy syndrome (FIRES) is a devastating neurological condition characterized by a febrile illness preceding new onset refractory status epilepticus (NORSE). Increasing evidence suggests innate immune dysfunction as a potential pathological mechanism. We report an international retrospective cohort of 25 children treated with anakinra, a recombinant interleukin-1 receptor antagonist, as an immunomodulator for FIRES. Anakinra was potentially safe with only one child discontinuing therapy due to infection. Earlier anakinra initiation was associated with shorter duration of mechanical ventilation, ICU and hospital length of stay. Our retrospective data lay the groundwork for prospective consensus-driven cohort studies of anakinra in FIRES.


Assuntos
Síndromes Epilépticas/terapia , Infecções/terapia , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Convulsões Febris/terapia , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Encefalite Infecciosa , Estudos Retrospectivos
17.
Med Educ ; 54(1): 13-14, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31849099

Assuntos
Medicina , Viés , Pensamento
18.
Paediatr Child Health ; 24(5): 297-298, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31379427
19.
Can J Neurol Sci ; 46(5): 566-574, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31347477

RESUMO

BACKGROUND: In 2013, a task force was developed to discuss the future of the Canadian pediatric neurology workforce. The consensus was that there was no indication to reduce the number of training positions, but that the issue required continued surveillance. The current study provides a 5-year update on Canadian pediatric neurology workforce data. METHODS: Names, practice types, number of weekly outpatient clinics, and dates of certification of all physicians currently practicing pediatric neurology in Canada were obtained. International data were used to compute comparisons between countries. National data sets were used to provide information about the number of residency positions available and the number of Canadian graduates per year. Models for future projections were developed based on published projected population data and trends from the past decade. RESULTS: The number of pediatric neurologists practicing in Canada has increased 165% since 1994. During this period, wait times have not significantly shortened. There are regional discrepancies in access to child neurologists. The Canadian pediatric neurology workforce available to see outpatient consultations is proportionally less than that of USA. After accounting for retirements and emigrations, the number of child neurologists being added to the workforce each year is 4.9. This will result in an expected 10-year increase in Canadian pediatric neurologists from 151 to 200. CONCLUSIONS: Despite an increase in the number of Canadian child neurologists over the last two decades, we do not predict that there will be problems with underemployment over the next decade.


Les effectifs en neurologie pédiatrique au Canada : une mise à jour tenant compte des cinq dernières années.Contexte:En 2013, un comité de réflexion a été mis sur pied afin de discuter de l'avenir des effectifs canadiens en neurologie pédiatrique. Un consensus s'est alors dessiné : bien que rien n'indique qu'il faille réduire le nombre de places disponibles dans ce domaine de formation, cette question nécessite toutefois un suivi continu. La présente étude vise ainsi à offrir une mise à jour des données qui concernent ces effectifs en tenant compte des cinq dernières années.Méthodes:Les données suivantes ont été obtenues : noms des praticiens, types de pratique, nombre de consultations hebdomadaires en clinique externe et dates de certification de tous les médecins pratiquant actuellement la neurologie pédiatrique au Canada. Des données internationales ont également été utilisées pour effectuer des comparaisons entre divers pays. Des données au niveau national ont été rassemblées pour établir le nombre de places disponibles en résidence et le nombre de diplômés canadiens par année. Des modèles de projection ont aussi été élaborés en se fondant sur des projections de population déjà publiées et sur les tendances ayant marqué la décennie précédente.Résultats:Le nombre de neurologues pédiatriques qui pratiquent au Canada a augmenté de 165 % depuis 1994. Fait à noter, les temps d'attente n'ont pas été notablement raccourcis durant cette période. Il existe aussi des disparités régionales en matière d'accès à cette spécialité de la neurologie. Les effectifs canadiens en neurologie pédiatrique disponibles pour des consultations en clinique externe demeurent proportionnellement moins importants qu'aux États-Unis. Après avoir tenu compte des départs à la retraite et des apports de l'extérieur, le nombre de neurologues pédiatriques ajoutés chaque année a été en moyenne de 4,9. Pendant une période de 10 ans, on anticipe donc qu'on devrait passer de 151 à 200 neurologues pédiatriques canadiens.Conclusions:En dépit d'une hausse du nombre de neurologues pédiatriques canadiens au cours des deux dernières décennies, nous ne prédisons pas de problèmes de sous-emploi au cours de la prochaine décennie.


Assuntos
Mão de Obra em Saúde/estatística & dados numéricos , Neurologistas/provisão & distribuição , Pediatras/provisão & distribuição , Canadá , Humanos , Neurologia/estatística & dados numéricos , Pediatria/estatística & dados numéricos
20.
Med Educ ; 53(7): 666-676, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30690769

RESUMO

BACKGROUND: Competency-based medical education (CBME) is becoming widely implemented in medical education. Trainees' perceptions of CBME are important factors in the implementation and acceptance of CBME. Online discussion groups allow unique insight into trainees' perceptions of CBME during residency training. METHODS: We analysed 867 posts from 20 discussion threads in Premed 101 (Canadian) and 2756 posts from 50 threads in Student Doctor Network (SDN) (American) using NVivo 11. Inductive content analysis was used to develop a data-driven coding scheme that evolved throughout the analysis. Measures were taken to ensure the trustworthiness of findings, including co-coding of a subsample of 600 posts, peer debriefing, consensus-based analytical decision making and the maintenance of an audit trial. RESULTS: Medical residents and students participating in the discussion forums emphasised select themes regarding the implementation of CBME in residency training. Concerns about CBME in Canada primarily involved its implications for the length of residency and post-residency opportunities. Posts on the American forum had a prominent focus on differing areas, such as the subjectivity in the assessment of core competencies and the role of CBME in termination of a resident's position. CONCLUSIONS: Online discussion groups have the potential to provide unique insight into perceptions of CBME. The presented concerns may have implications for refining the model of CBME and illustrate the importance of providing clarification for trainees regarding length of training and evaluation structures from those involved in designing of CBME programmes.


Assuntos
Educação Baseada em Competências , Internet/tendências , Estudantes de Medicina/psicologia , Canadá , Competência Clínica/normas , Currículo , Educação Médica , Humanos , Internato e Residência , Estados Unidos
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