http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Health-Related Quality of Life in Parkinson’s disease patients and their caregivers
Michal Lubomski,Ryan L. Davis,Carolyn M. Sue 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Jessica Qiu,Kishore Raj Kumar,Eloise Watson,Kate Ahmad,Carolyn M. Sue,Michael W. Hayes 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.2
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrialDNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLGmutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstratethat the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants inthe POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant[NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizablefeatures of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such assodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosismay have implications for further investigations and management.