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1.
Alzheimer Dis Assoc Disord ; 37(2): 168-170, 2023.
Article in English | MEDLINE | ID: mdl-36820836

ABSTRACT

Homozygous mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) gene are known to cause Nasu-Hakola disease, which is a rare cause of progressive presenile dementia. A 36-year-old woman presented with repetitive seizures, a 5-year history of progressive behavioral and cognitive changes, and an affected sibling. Magnetic resonance imaging of the brain revealed an ischemic lesion in the left medial temporal lobe. Extensive evaluation of juvenile stroke revealed that viral and autoimmune encephalitides, serum lactate and pyruvate levels, and cerebrospinal fluid composition were all normal. Brain magnetic resonance imaging was notable of thinning of the corpus callosum and caudate and frontotemporal cortical atrophy, in addition to the ischemic lesion. Whole exome sequencing revealed a homozygous mutation (c.A257T; p.D86V) in TREM2. The present case expands the clinical phenotype of Nasu-Hakola disease and further suggests that TREM2 pathway might have role in vessel wall health.


Subject(s)
Lipodystrophy , Stroke , Subacute Sclerosing Panencephalitis , Humans , Subacute Sclerosing Panencephalitis/diagnosis , Subacute Sclerosing Panencephalitis/genetics , Brain/pathology , Lipodystrophy/genetics , Stroke/genetics
2.
Sleep Sci ; 14(4): 379-384, 2021.
Article in English | MEDLINE | ID: mdl-35087637

ABSTRACT

INTRODUCTION: Methamphetamine dependence is common in the world. Methamphetamine affects sleep architecture through changes in the monoaminergic activity of the brain. Limited studies investigated the sleep architecture in patients with methamphetamine dependence during prolonged abstinence. Therefore, this study investigated the sleep architecture of methamphetamine ex-users in the remission phase by polysomnography. MATERIAL AND METHODS: This was a cross-sectional study conducted during 2015-2017 in Mashhad, Iran. 12 methamphetamine ex-users in early full remission phase were selected from residential treatment centers through the convenient sampling method. The clinical interview was made to confirm the diagnosis and assess the inclusion and exclusion criteria. We performed urine dipstick tests to detect any relapses. Participants underwent a one-night polysomnographic evaluation, voluntarily. The collected data were analyzed by independent sample t-test and chi-square test, using SPSS-16. The level of significance was less than .05. RESULTS: The mean total sleep time of participants was significantly lower than the total sleep period (333.6±79.1 vs. 403.0±52.9 minutes, respectively; p=0.001), leading to a significant low sleep efficiency (75.7±14.4%, p=0.047). Evaluation of rapid eye movement (REM) sleep showed a significant increase in the REM latency compared to the healthy population (p<0.001). Stages 1 and 3 of non-REM sleep were increased compared to the healthy population, too (p<0.001 and p=0.002, respectively). CONCLUSION: Former methamphetamine users continue to experience some long-term abnormalities in sleep architecture a few months after drug cessation.

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