Objective:To investigate the genetic distribution of pathogenic genes of Charcot-Marie-Tooth diseases (CMT) in Chinese Han population, and compare the similarity and difference with the data in Peking University Third Hospital in 2013.Methods:Five hundred and twenty families with CMT and related diseases in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to March 2021 were collected. After peripheral myelin protein 22 (PMP22) gene duplication and deletion mutations were initially detected by multiple ligation probe amplification, the probands of these families were sequenced by next-generation sequencing (NGS) gene panel or whole exome sequencing, and validated by Sanger sequencing.Results:Among the 520 families, 336 CMT families were genetically confirmed, and the mutation detection rate increased from 48.6% (51/105) in 2013 to 64.6% (336/520) in 2021 (χ 2=9.54, P=0.003). Among them, 139 families had PMP22 gene duplication mutation (139/520, 26.7%), 46 families had gap junction beta-1 (GJB1) gene mutation (46/520, 8.8%), 26 families had mitofusin-2 (MFN2) gene mutation (26/520, 5.0%), 12 families had myelin protein zero (MPZ) gene mutation (12/520, 2.3%), 11 families had PMP22 gene point mutation (11/520, 2.1%), and 10 families had heat shock protein B1 gene mutation (10/520, 1.9%). There were 10 families with ganglioside induced differentiation associated protein 1 (GDAP1) gene mutation (10/520, 1.9%), 8 families with SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene mutation (8/520, 1.5%), 7 families with immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene mutation (7/520, 1.3%), 6 families with MORC family CW-type zinc finger 2 (MORC2) gene mutation (6/520, 1.2%), 5 families with sorbitol dehydrogenase (SORD) gene mutation (5/520, 1.0%), 16 families with very rare gene mutation (16/520, 3.1%) and 184 families without genetic diagnosis (184/520, 35.4%). Conclusions:Compared with the results in 2013, the 3 most common genes affecting CMT were still PMP22, GJB1 and MFN2 genes, but the proportion difference of patients with MPZ gene mutation gradually decreased with other genes such as SH3TC2 and GDAP1 genes. The proportion of newly discovered CMT genes, such as MORC2 and SORD genes, was similar with IGHMBP2 gene, which should be paid more attention. NGS greatly improved the detection rate of CMT, especially for patients with autosomal recessive-CMT.

Objective To investigate the predictive value of lymphocyte count(LYM),interleukin-6(IL-6)and D-dimer(DD)combined detection on the 28 day prognosis of patients with sepsis.Methods Patients with sepsis 3.0 admitted to the People's Hospital of Xinjiang Uygur Autonomous Region from January 2023 to November 2023 were retrospectively selected.The clinical data of pa-tients were collected and divided into groups according to their survival at 28 days,and the levels of LYM,IL-6 and DD were compared.Draw the receiver operating characteristic(ROC)curve and calculate the area under the curve(AUC),the 28 days Kaplan-Meier sur-vival curve was plotted according to the cut-off value determined by the ROC curve.Results Finally,107 patients with sepsis were in-cluded,of which 66survived and 41 died within 28days.The levels of DD and IL-6 in the death group were significantly higher than those in the survival group,and the level of LYM was significantly lower than that in the survival group,and the difference between groups was statistically significant(P＜0.05).The results of multivariate COX regression analysis showed that LYM,IL-6 and DD were all risk factors for 28days death(P＜0.05).The results of ROC curve analysis showed that the AUC of LYM,IL-6 and DD combined detection was greater than that of single detection(0.909 vs 0.821,0.788,0.807).The results of Kaplan-Meier survival curve analysis showed that the 28days survival rate of patients with LYM≤0.52 × 109/L was significantly lower than that of patients with LYM＞0.52 × 109/L.The 28 days survival rate of patients with IL-6 ≥551.45pg/ml was significantly lower than that of patients with IL-6＜551.45pg/ml.The 28 days survival rate of patients with DD≥3.25mg/L was significantly lower than that of patients with DD＜3.25mg/L.Conclusion DD,IL-6 and LYM are all valuable in predicting the 28d prognosis of sepsis,and the combined detection of the three indicators is better than the single detection,which is expected to provide help for clinicians in the diagnosis and treatment of sepsis.