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Background This study aimed to understand the clinical characteristics and outcomes of children with Langerhans cell histiocytosis (LCH) in China. Methods We conducted a retrospective study of 95 paediatric patients with LCH in West China Second University Hospital of Sichuan University between July 2013 and August 2020. Results The onset age of multisystem LCH (MS-LCH) patients with risk organ (RO) involvement was younger than that of MS-LCH without RO involvement (p = .002) and single system LCH (p K, BRAF p.L485_P490delinsF, BRAF p.R506_K507insLLR, ARAF p.Q349_F351delinsL and MAP2K1 p.Q58_E62del were known mutations in the mitogen-activated protein kinase (MAPK) pathway. The BRAF-V600E genotype in the tissue and plasma prior to therapy were detected in 16 patients, and the concordance was only 37.5% (6/16). According to the modified LCH-III-based-protocol, JLSG-02 protocol chemotherapy, and vemurafenib, the estimated five-year overall survival, event-free survival (EFS) and cumulative reactivation rates of 95 patients were 98.8%, 74.6% and 24.5%, respectively. The EFS rate in good responders was better than that in poor responders at 12-week (HR = 0.022, 95%CI 0.002–0.231, p = .002), and EFS was not affected by age, RO involvement or BRAF-V600E mutation. Regarding sequelae, nine patients had central diabetes insipidus and two had growth retardation. Conclusions In this study, LCH was a highly heterogeneous disease characterized molecularly by MAPK-pathway activating mutations. Vincristine, prednisone and cytarabine-based chemotherapy combined with vemurafenib improved the prognosis of childhood LCH. In future, prospective clinical trials and novel therapeutic strategies should be developed to improve outcomes in paediatric patients with LCH.KEY MESSAGEChildren with Langerhans cell histiocytosis in China present highly heterogeneous clinical characteristics, with up to 60% of cases harbouring mutations in MAPK pathway.Treatment response at 12-week is associated with EFS in our study.Vincristine, prednisone and cytarabine-based chemotherapy combined with vemurafenib improved the prognosis of Chinese childhood LCH, but the reactivation rate is still high.

Jing-Jing Sun,1,2 Xiao-Min Liu,2 Chen-Yu Shen,2 Kun Feng,1,2 Po-Zi Liu2 1School of Clinical Medicine, Medicine Institute, Tsinghua University, Beijing, China; 2Yu Quan Hospital, Clinical Neuroscience Institute, Tsinghua University, Beijing, China Purpose: Bipolar disorder (BD) patients with psychotic symptoms (BDp) worsens prognosis and decreases rates of recovery. The study investigated cognitive performance and brain function between BD patients in depressive episode with and without psychotic symptoms to find potential neurobiological markers associated with psychotic features of BD patients in depressive episode. Patients and methods: Thirty-one patients without psychotic symptoms and 29 patients with psychotic symptoms diagnosed with bipolar I disorder with a current depressive episode were included in the present study. The neural function of prefrontal cortex (PFC) and cognitive performance among BDp, BD patients without psychotic symptoms, and 23 healthy controls (HC) were examined using near-infrared spectroscopy during verbal fluency task (VFT). Results: 1) Both the BD groups exhibited significantly worse performance of VFT and lower activation of oxygenated hemoglobin (oxy-Hb) changes in the bilateral ventrolateral PFC compared with the HC group. 2) Within the BD group, VFT performance was not significantly different. 3) The prefrontal activation of oxy-Hb changes in the BDp patients was significantly lower than that in the BD patients without psychotic symptoms in the right dorsolateral PFC. 4) Activation of oxy-Hb changes in right dorsolateral PFC was negatively correlated with the severity of psychotic symptoms in BDp patients. Conclusion: The prefrontal function differs between BD patients in depressive episode with or without psychotic symptoms measured with near-infrared spectroscopy. Keywords: bipolar disorder, depressive, psychotic symptoms, near-infrared spectroscopy, verbal fluency task

Jing-Jing Sun,1,2 Xiao-Min Liu,2 Chen-Yu Shen,2 Xiao-Qian Zhang,1,2 Gao-Xiang Sun,2 Kun Feng,2 Bo Xu,2 Xia-Jin Ren,1,2 Xiang-Yun Ma,1,2 Po-Zi Liu2 1Medical Center, Tsinghua University, Beijing, China, 2Department of Psychiatry, YuQuan Hospital, Tsinghua University, Beijing, China Purpose: Daytime complaints such as memory and attention deficits and failure to accomplish daily tasks are common in insomnia patients. However, objective psychological tests to detect cognitive impairment are equivocal. Neural function associated with cognitive performance may explain the discrepancy. The aim of this study was to investigate the hemodynamic response patterns of patients with chronic insomnia disorder (CID) using the noninvasive and low-cost functional neuroimaging technique of multichannel near-infrared spectroscopy (NIRS) in order to identify changes of neural function associated with cognitive performance.Patients and methods: Twenty-four CID patients and twenty-five healthy controls matched for age, right-hand dominance, educational level, and gender were examined during verbal fluency tasks (VFT) using NIRS. A covariance analysis was conducted to analyze differences of oxygenated hemoglobin (oxy-Hb) changes in prefrontal cortex (PFC) between the two groups and reduce the influence of the severity of depression. Pearson correlation coeffcients were calculated to examine the relationship between the oxy-Hb changes, with the severity of insomnia and depressive symptoms assessed by the Pittsburgh Sleep Quality Index (PSQI) and the Hamilton Rating Scale for Depression (HAMD).Results: The number of words generated during the VFT in CID groups showed no statistical differences with healthy controls. CID patients showed hypoactivation in the PFC during the cognitive task. In addition, we found that the function of left orbitofrontal cortex (OFC) during the VFT was significantly negatively correlated with the PSQI scores and the function of right dorsolateral PFC (DLPFC) was significantly negatively correlated with the HAMD scores.Conclusion: The present study detected dysfunctions in PFC in spite of intact performance which indicates the role of PFC in the neurophysiological underpinnings. Left OFC function is associated with insomnia symptoms and right DLPFC function is associated with depressive symptoms. Keywords: chronic insomnia disorder, near-infrared spectroscopy, NIRS, prefrontal cortex, verbal fluency task, depressive symptoms