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《Neuromuscular disorders : NMD》2021,31(7):642-650
We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of which 26 (59.1%) were men. The majority (86.7%) were ethnic Chinese while two (6.7%) each were Malay and Sri Lankan Tamil ethnicity respectively. Among patients, mean age of symptom-onset was 55.9 ± 9.8 years with mean duration from symptom-onset to diagnosis of 3.2 ± 2.5 years. Common presenting symptoms were sensory symptoms of upper limbs (43.3%), symmetric sensory symptoms of both lower limbs (16.7%) and autonomic symptoms (16.7%). Nerve conduction studies showed sensorimotor polyneuropathy in 25 (83.3%) patients (22, axonal). Abnormal echocardiograms were seen in 24 (80%) patients, although 15 were asymptomatic. Of six different TTR mutations found, Ala97Ser was the commonest, and found exclusively in 84.6% of Chinese patients. Other mutations among Chinese patients were Val30Met, Ala25Thr and Asp39Val. Our Malay and Tamil patients had Glu54Lys and Gly47Val mutations respectively. In conclusion, TTR Ala97Ser is the commonest mutation among ethnic Chinese Malaysians which presented with late-onset progressive sensorimotor polyneuropathy, autonomic dysfunction and subclinical cardiac involvement. 相似文献
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《Sleep medicine》2021
BackgroundTheoretical models argue that coping reduces stress responses, yet no studies have tested whether coping moderates the prospective stress effects on sleep in daily life.PurposeThis study tested if coping moderates the stress-sleep association using a daily, intensive longitudinal design across 7–12 days.Methods326 young adults (Mage = 23.24 ± 5.46) reported perceived stress and coping (problem-focused, emotional-approach, and avoidance) every evening between 20:00–02:00, providing over 2400 nights of sleep data and 3000 stress surveys from all participants. Actigraphy and sleep diaries measured total-sleep-time and sleep efficiency. Multilevel models tested the interaction effects of within- and between-person stress and coping on sleep.ResultsWithin-person problem-focused and emotional-approach coping moderated the within-person stress effects on actigraphic total-sleep-time (both p = 0.02); higher stress predicted shorter total-sleep-time only during high use of problem-focused or emotional-approach coping (both p = 0.01). Between-person avoidance moderated the between-person stress effect on actigraphic total-sleep-time (p = 0.04); higher stress predicted shorter total-sleep-time for high avoidance coping (p = 0.02). Within-person emotional-approach coping buffered the between-person stress effect on actigraphic sleep efficiency (p = 0.02); higher stress predicted higher sleep efficiency for high emotional-approach coping (p = 0.04).ConclusionsThis study showed that daily coping moderates the effects of evening stress on sleep that night. More efforts to cope with stress before bedtime had a short-term cost of shorter sleep that night. However, high use of emotional-approach coping buffered the impact of stress to promote sleep efficiency. 相似文献
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Core executive functions (EF) such as attention, and working memory have been strongly associated with academic achievement, language development and behavioral stability. In the case of children who are vulnerable to cognitive and learning problems because of an underlying intellectual disability, EF difficulties will likely exacerbate an already compromised cognitive system. The current review examines cognitive training programs that aim to improve EF, specifically focusing on the potential of this type of intervention for children who have intellectual disabilities. We conclude that despite considerable discrepancies regarding reported intervention effects, these inconsistencies can be attributed to flaws in both program and study design. We discuss the steps needed to address these limitations and to facilitate the advancement of non-pharmaceutical interventions for children with intellectual disabilities. 相似文献