Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life. It is a serious disease with a mortality rate of 75% in 2–3 years. The cause of Leigh syndrome is DNA mutation. Approximately 75% of patients have nuclear DNA mutations while 25% have mitochondrial DNA mutations. Clinical symptoms vary depending on the affected brain area. Neuroimaging plays an important role in diagnosing patients with Leigh syndrome. Late-onset Leigh syndrome is rarer and progresses more slowly compared to the classic form. Here, we report a case of late-onset Leigh's syndrome mimicking Wernicke's encephalopathy.

Background: The purpose of this systematic review was to investigate the effects of digital therapeutics for insomnia on sleep disorders and mental health improvement compared to the control group. Methods: Following the guidelines on systematic review(PRISMA, NECA), a literature search was conducted through PubMed, Cochrane Library, EMBASE, RISS, KISS, and KoreaMed using keywords. The Cochrane Risk of Bias Tool and Review Manager version 5.3 were used for risk of bias and effect size assessment. Results: Thirty eight RCT met criteria for inclusion. When compared against three control conditions, the digital therapeutics for insomnia was an effective intervention for improvement sleep disorders and mental health in comparison to waiting list and Patient-directed care with some intervention by medical staff. However, digital therapeutics for insomnia were no more effective than face-to-face CBT-I control group. Conclusion The efficacy of digital therapeutics for insomnia was evaluated differently depending on the control group. Therefore, in phase 3 clinical trials for efficacy evaluation, it is necessary to review whether the control group has been properly established.

Mannosylerythritol lipids (MELs) are glycolipids and have several pharmacological efficacies. MELs also show skin-moisturizing efficacy through a yet-unknown underlying mechanism. Aquaporin-3 (AQP3) is a membrane protein that contributes to the water homeostasis of the epidermis, and decreased AQP3 expression following ultraviolet (UV)-irradiation of the skin is associated with reduced skin moisture. No previous study has examined whether the skin-moisturizing effect of MELs might act through the modulation of AQP3 expression. Here, we report for the first time that MELs ameliorate the UVA-induced downregulation of AQP3 in cultured human epidermal keratinocytes (HaCaT keratinocytes). Our results revealed that UVA irradiation decreases AQP3 expression at the protein and messenger RNA (mRNA) levels, but that MEL treatment significantly ameliorated these effects. Our mitogen-activated protein kinase inhibitor analysis revealed that phosphorylation of c-Jun N-terminal kinase (JNK), but not extracellular signal-regulated kinase or p38, mediates UVA-induced AQP3 downregulation, and that MEL treatment significantly suppressed the UVA-induced phosphorylation of JNK. To explore a possible mechanism, we tested whether MELs could regulate the expression of peroxidase proliferator-activated receptor gamma (PPAR-γ), which acts as a potent transcription factor for AQP3 expression. Interestingly, UVA irradiation significantly inhibited the mRNA expression of PPAR-γ in HaCaT keratinocytes, whereas a JNK inhibitor and MELs significantly rescued this effect. Taken together, these findings suggest that MELs ameliorate UVA-induced AQP3 downregulation in HaCaT keratinocytes by suppressing JNK activation to block the decrease of PPAR-γ. Collectively, our findings suggest that MELs can be used as a potential ingredient that modulates AQP3 expression to improve skin moisturization following UVA irradiation-induced damage.
Down-Regulation* ; Epidermis ; Glycolipids ; Homeostasis ; Humans* ; JNK Mitogen-Activated Protein Kinases* ; Keratinocytes* ; Membrane Proteins ; Peroxidase ; Phosphorylation* ; Phosphotransferases ; PPAR gamma ; Protein Kinases ; RNA, Messenger ; Skin ; Transcription Factors ; Water