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Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
문준규,Ah Reum Kim,Jong Hyeon Ahn,Minkyeong Kim,Jin Whan Cho,이정일,조경래,Jinyoung Youn 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.2
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation(DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developedgeneralized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B-related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in theKMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateralpallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scaleand from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidusinternus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
Hyposexuality in Men with Obstructive Sleep Apnea Syndrome
문준규,주은연 대한수면연구학회 2015 Journal of sleep medicine Vol.12 No.1
Objectives: Hyposexuality is defined as diminished sexual drive or libido. There has been little research into the sexuality in patients with obstructive sleep apnea (OSA). We investigated the prevalence and relating factors for hyposexuality in OSA men. Methods: Consecutive 182 male (mean age 48.3 y) were enrolled who were newly diagnosed with OSA through polysomnography. All completed Symptom checklist-90-Revised (SCL-90-R), Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI). Subjects were divided into non-hyposexuality (score 0) and hyposexuality (score ≥1) groups according to the question “Loss of sexual interest or pleasure” in SCL-90-R. Results: 110 of 182 subjects (60.4%) answered hyposexuality (score ≥1). Significant correlations were found between hyposexuality and following factors; age (rho=0.248), BDI (rho=0.450), BAI (rho=0.410), ESS (rho=0.221), and percentage of non-REM stage 3 (N3%) (rho=-0.184). Apnea-hypopnea index was significantly correlated with nocturia (rho=0.320), ESS (r=0.230), N1% (r=0.596), N2% (r=-0.540), N3% (r=-0.195), and lowest oxygen saturation (r=-0.641). Comparing two groups, hyposexuality group showed significantly lowered total sleep time (380.2 min vs. 359.1 min), and sleep efficiency (83% vs. 76%). The severity of hyposexuality was correlated with BDI (rho=0.330), BAI (rho=0.253), and N3% (rho=-0.215) in subjects with hyposexuality. After controlling for age, polysomnographic parameters were not correlated with hyposexuality. Conclusions: About half of untreated OSA male subjects reported diminished libido. Age, daytime sleepiness, mood disorders, and decreased sleep quality were associated with hyposexuality. Of these, aging process was the most important factor for hyposexuality.