RESUMO
Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function. We included 18 of the 28 identified patients (13 females (11-67 years old); five males (31-74 years old)) with typical or mild NM and eight different genotypes. Nine patients (50 %) used a wheelchair, eight patients (44 %) used mechanical ventilation, and four patients (22 %) were on tube feeding. Spinal deformities were found in 14 patients (78 %). The median Medical Research Council (MRC) sum score was 38/60 [interquartile range 32-51] in typical and 48/60 [44-50] in mild NM. The experienced QoL was lower and fatigue severity was higher than reference values of the healthy population. The total MFM score was 55 % [49-94] in typical and 88 % [72-93] in mild NM. Most of the patients who performed spirometry had a restrictive lung function pattern (11/15). This identification and characterisation of the Dutch NM patient cohort is important for international collaboration and can guide the design of future clinical trials.
Assuntos
Miopatias da Nemalina , Qualidade de Vida , Humanos , Masculino , Feminino , Estudos Transversais , Pessoa de Meia-Idade , Países Baixos , Adulto , Miopatias da Nemalina/genética , Miopatias da Nemalina/fisiopatologia , Adolescente , Idoso , Adulto Jovem , Criança , Índice de Gravidade de Doença , Fadiga/fisiopatologia , Músculos Respiratórios/fisiopatologiaRESUMO
Background and objective: Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective. Methods: Together with affected individuals, family members, and advocates concerned with RYR1-RD, we developed an online patient survey that was completed by 227 patients or their parents/other caretakers (143 females and 84 males, 0-85 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1-RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials. Results: Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations. Conclusions: Together, this study provides a unique patient perspective on the RYR1-RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.
Assuntos
Cuidadores , Qualidade de Vida , Canal de Liberação de Cálcio do Receptor de Rianodina , Humanos , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Adolescente , Idoso , Criança , Adulto Jovem , Cuidadores/psicologia , Inquéritos e Questionários , Idoso de 80 Anos ou mais , Pré-Escolar , Lactente , Doenças Neuromusculares/genética , Doenças Neuromusculares/psicologia , Recém-Nascido , Família/psicologiaRESUMO
Introduction: Post-stroke fatigue is frequently present in young adults, but its underlying mechanism is still unclear. The aim of the study was to investigate the association between lesion location, network efficiency and chronic post-stroke fatigue based on voxel-based lesion-symptom mapping and structural network connectivity analysis. Patients and Methods: One hundred and thirty five young patients, aged 18-50 years, with a first-ever transient ischemic attack or cerebral infarction from the Follow-Up of Transient ischemic attack and stroke patients and Unelucidated Risk factor Evaluation (FUTURE) study, underwent 1.5T MRI and were assessed for fatigue using the self-report Checklist Individual Strength. Stroke lesions were manually segmented, and structural network efficiency was calculated using the diffusion MRI-based brain networks and graph theory for each patient. Univariate and multivariate analyses was performed to study the associations between MRI parameters and chronic post-stroke fatigue. In addition, we used voxel-based lesion-symptom mapping to analyze the relationship between the lesion location and chronic post-stroke fatigue. Results: Mean age at index event was 39.0 years (SD ± 8.2), and mean follow-up duration was 11.0 years (SD ± 8.0). 50 patients (37%) had post-stroke fatigue. Voxel-based lesion-symptom mapping showed no significant relation between stroke lesions and the presence of chronic post-stroke fatigue. Furthermore, there were no significant associations between the lesion size or network efficiency, and the presence of chronic post-stroke fatigue. Discussion: We did not find any association between stroke characteristics (lesion location and size) and chronic post-stroke fatigue (CIS20-R), nor associations between structural brain network connectivity and post-stroke fatigue on the long term in young stroke patients.
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Background: In Paralympic sports, classification of athletes based on the impact of impairments on the ability to perform is needed, to prevent a one-sided and predictable outcome of the competition in which the least impaired athlete has the best chance to win. Classification is developing from expert opinion based to evidence based. In wheelchair court sports, there is evidence to support the impact of impairment on wheeled mobility, but not on ball handling. To assess the impact of impairment on the ability to perform ball-handling activities, standardised tests for ball handling are needed. Purpose: To assess if reliable and valid standardised tests for the measurement of ball-handling proficiency in a wheelchair or able-bodied court sports exist; to assist in the development of Evidence-Based Classification (EBC) in wheelchair court sports according to the guidelines of the International Paralympic Committee (IPC). Methods: The review was conducted according to the Meta-Analysis of Observational Studies in Epidemiology (MOOSE) statement. Search terms used were "wheelchair," "ball," "ball sports," "test," and "performance." Databases searched were Medline, Embase, PubMed, and Sport Discus. Study quality was assessed using the Strengthening the Reporting of Observational Studies in Epidemiology checklist. Results: Twenty-two articles were included. Foundational Movement Skills in ball-handling proficiency were assessed. Tests for throwing maximal distance showed sufficient reliability and validity. Precision in throwing showed low-to-moderate reliability and conflicting results in validity. Throwing techniques differed between studies. Dribbling the ball showed high reliability, but conflicting results in validity. Conclusions: Tests for throwing maximal distance, throwing precision, and dribbling the ball can be used in standardised tests for activity limitation in wheelchair court sports. However, tests need to be adapted and standardised and then reassessed for reliability and validity in athletes with and without arm impairment.