Cochrane Database Syst Rev
November 2024
Segmental Darier's disease is an uncommon subtype of Darier's genodermatosis, resulting from a mutation in the ATPase type 2 during early embryogenesis. It typically presents as a persistent, pruritic papular eruption following the lines of Blaschko. Histopathology of Darier's disease demonstrates acantholysis, dyskeratosis, and corps ronds.
View Article and Find Full Text PDFObjective: The aim of the study is to assess whether a blue-enriched light intervention improves nocturnal alertness and daytime sleep of night workers.
Methods: Thirteen miners performing 12-hour night shifts for 12 consecutive nights were exposed to a baseline and a blue-enriched light condition. All subjects wore an actigraph and completed a Psychomotor Vigilance Task at the beginning and at the end of each shift.
The objective was to characterize the progression of sleep complaints in 115 dystrophy type 1 (DM1) patients who filled out a sleep questionnaire twice at a 9-year interval. Daytime napping (22.1% vs.
View Article and Find Full Text PDFDaytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type 1 (DM1) that can be amenable to treatment in the context of randomized controlled trials. No study has yet documented whether self-reported measures of daytime sleepiness and fatigue can detect change over time and the meaning of this change. The aim was to explore indicators of responsiveness to change and interpretability for the Daytime Sleepiness Scale and the Fatigue Severity Scale in 115 DM1 prospectively followed patients.
View Article and Find Full Text PDFPurpose: For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental predictors of participation restriction over nine years in adults with myotonic dystrophy type 1 (DM1).
View Article and Find Full Text PDFObjective: Assess the change in sleep and vigilance of underground miners during long periods of extended shifts.
Methods: Seventy miners worked 14 consecutive 12-hour day and/or night shifts. Also, they wore an actigraph and completed a visual analog scale for vigilance four times per shift.
Objective: Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients' quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for 9 years.
Methods: This study included 115 patients with DM1 at baseline (Time 1, T1) and at Time 2 (T2) who were questioned for daytime sleepiness, fatigue, history of depression, psychological distress, pain, hypothyroidism, and sleep habits.
Background: Apathy is a common debilitating symptom of myotonic dystrophy type 1 (DM1). The Apathy Evaluation Scale (AES) has been identified as a promising measurement instrument to be used in DM1 but its metrological properties must be further documented.
Objective: To determine the internal consistency of the Self (AES-S), Informant (AES-I), and Clinician (AES-C) versions of the AES and to assess the test-retest reliability, standard error of measurement, and minimal detectable change of the AES-S and AES-I in a sample of DM1 patients and their related informants.
Background: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease causing, among other symptoms, fatigue and excessive daytime sleepiness, which are frequently undifferentiated by patients and/or clinicians. The Fatigue and Daytime Sleepiness Scale (FDSS) has been devised to measure these two overlapping symptoms as a single clinical entity.
Objective: To further examine the reliability and the construct validity of the FDSS in patients with DM1.
Background: Reed's syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma.
Objective: This report describes a unique case of HLRCC because it presented in pregnancy with development of cutaneous pilar leiomyomas.
Methods: Review of the literature for previous cases of Reed's syndrome during pregnancy including PubMed and Medline search.
Objective: To assess body dissatisfaction among children between 9 and 14 years of age and to examine factors (age, sex, body mass index, perceived shape, and self-esteem) associated with wanting a thinner or a larger shape.
Study Design: Through at-school questionnaires, 1515 preadolescent children (51.2% girls) were asked to fill out the Culture Free Self-Esteem Inventory and the Contour Drawing Rating Scale (body dissatisfaction).
Background: Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral dystrophy (FSHD) patients and normal healthy controls, and explore its relationship to psychopathological features and cognitive function.
View Article and Find Full Text PDFThis longitudinal study aims to describe the development of body dissatisfaction (BD), measured with the between the ages of 14 and 18, and to identify factors associated with BD at age 18, among 413 adolescents. Between the ages of 14 and 18, the proportion of girls wanting to be thinner increased, although it remained unchanged among boys. A ratio of 1:2 girls and 1:5 boys reported having seriously tried to lose weight.
View Article and Find Full Text PDFActa Neurol Scand
July 2015
Objectives: Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. It is associated with motor symptoms but patients also display non-motor symptoms such as particular personality traits. Studies have reported mixed results about personality characteristics which may be attributable to small sample sizes, different disease severity of groups studied, and use of different questionnaires or method.
View Article and Find Full Text PDFBackground: Survey research indicates that a surprising number of 12 to 14 year olds in North America engage in some form of paid work, and work-related injuries for this age group are reported at rates similar to older teens. Parents exhibit significant involvement in many aspects of their teens' work and may influence perceptions of work safety, yet few studies have explored this phenomenon from a qualitative perspective with parents of working 12 to 14 year olds.
Methods: This paper focuses on parental perceptions and understandings of work safety based on focus groups conducted with urban Canadian parents of young teens who work for pay.