The prevalence of 1X type ranks the second among Charcot-Marie-Tooth disease (CMT). Mutations of GJB1 gene causes abnormality of Connexin32's structure and function, which leads to the defect of the intercellular passage, and at last Results in CMT1X. This article reviewed the typical clinical features and the advance of molecular genetics of CMT1X, and summarized the pathogenic researches.

Objective To investigate the protective effect of sodium butyrate on brain injury induced by pneumolysin of infantile rats.Methods Ninety-six normal healthy 1-month-old Spragne-Dawley (SD) rats were randomly divided into three groups,including pneumolysin (PLY) group (n =32),in which rat was injected PLY via external carotid; Normal saline (NS) group (n =32),injected NS via external carotid; sodium butyrate (SB) group (n =32),after injecting PLY,immediately administrated SB via venous.In the injection the 24th h and 48th h,superior vena cava blood was taken,and the animals were sacrificed,and brain tissue samples were prepared.The brain water content (BWC) was recorded by measuring both wet and dry weight,the Evans blue (EB) level was measured by the formamide method.The serum levels of high mobility group protein B1 (HMGB1) and nuclear factor kappa B (NF-κB) were measured by enzyme-linked immunosorbent assay (ELISA).Results In PLY group,brain tissue BWC,EB level,and the blood level of HMGB1 and NF-κB were increased significantly compared with the NS group at each time point,the difference was statistically significant (P ＜ 0.05).These indices were lower in the SB group compared with PLY group,the difference was statistically significant (P ＜ 0.05).The positive correlation was gotten between HMGB1 and NF-κB,BWC,EB levels in the PLY group and SB group (r =0.817 ～0.917,P ＜ 0.05).Conclusions SB has neuroprotective effect in brain injury induced by PLY,which maybe relevant to inhibition of NF-κB activation and suppression of HMGB1 expression.

Objective To investigate the change of serum HMGB1 level and its clinical significance in children with sepsis.Methods Serum HMGB1 and procalcitonin (PCT) levels were determined in 30 healthy individuals and 46 children with sepsis,and the acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) scoring system was evaluated in children with sepsis.These indexes were also collected on the third and fifth days.The correlations between serum HMGB1 level and serum PCT level as well as APACHE Ⅱ score were analyzed.Results Serum HMGB1 levels in children with sepsis on the first day,the third day and the fifth day were significantly higher than those in control group,these differences were statistically significant [(26.28 ± 1.54) ng/ml,(20.32 ± 1.29) ng/ml,(12.84 ± 1.06) ng/ml vs (1.52 ± 0.29) ng/ml,P ＜0.05],HMGB1 levels among three time points were also significantly different(P ＜0.05).The serum HMGB 1 levels were positively correlated with the PCT levels (r =0.931,P ＜ 0.05) and APACHE Ⅱ score (r =0.915,P ＜ 0.05).Conclusion Serum HMGB1 level is obviously elevated in children with sepsis,and the level of HMGB1 can reflect the severity of sepsis.

Objective To report clinical and pathological features in a Chinese family with CharcotMarie-Tooth disease type 2A2 (CMT2A2). Methods There were 5 patients (2 male and 3 female) in a family with an autosomal dominant inheritance pattern. The index case was a 36 years old woman. She developed progressive distal limb weakness at the age of 6, with pescavus at the age of 8. Other 4 family members presented with similar symptoms between the age of 3-7. Physical examination showed distal limb weakness and wasting, loss of sensory and contracture in all of them. Nerve conduction velocity revealed non-potential in several motor and sensory nerves in the proband and her son. Sural nerve biopsy was performed on the proband. The sequence of MFN2 gene was analyzed in DNA from 5 patients and 3 asymptomatic members. Results Sural nerve biopsy revealed severe loss of myelinated fibers with few regenerating clusters. Electron microscopy revealed aggregation of mitochondrian in the axons. A R94W mutation in MFN2 gene has been identified in 5 patients, but not in unaffected members. Conclusions We confirmed Chinese CMT2A2. Absent of regenerating cluster in the nerve indicated that MFN2 mutation predominantly resulted in lesions in the neurons.

Three hundred and nine community health service (CHS) practitioners were selected with randomized cluster sampling for survey with the job satisfaction questionnaire-occupational stress indicator (OSI).Degree of the job satisfaction was (68 ± 12)%.Position, work experience, income,feeling of recognition, degree of motivation, the scope for career development, the space for personal ambition and the relationship between salary and work load were potential influencing factors of job satisfaction to CHS practitioners.The authors suggest to establish the dynamic mechanisms of satisfaction study and to formulate comprehensive and effective incentive measures for CHS practitioners.

Objective Frontal resting EEG asymmetry was used to evaluate the gender effect of emotion regulation.Methods The resting EEG was recorded in 30 healthy volunteers (19-26 years old) by the guide 40 amplifier,and off-line analysis on EEG data were conducted by scan4.3 software.The statistical analysis were performed using SPSS 17.0.Results In normal human,frontal resting EEG alpha power was statistically significant(F=4.918,P =0.035).Asymmetry and gender interaction group (F =0.668,P =0.421),electrode point and gender interaction group (F =0.283,P =0.756),electrode point and asymmetry interaction group (F =1.418,P =0.260),electrode point,asymmetry and gender interaction group (F =1.164,P =0.327) had no statistical significance (P ＞ 0.05).The comparison of male and female asymmetry degree of each electrode point (F4/F3 group t =0.465,F8/F7 groupt=0.809,FP2/FP1 group t=1.542) had no statistical significance (P＞0.05).Conclusion Normal human brain hemispheres exist asymmetry.The asymmetry does not exists gender effect.In non-task state,frontal resting EEG alpha power asymmetry can not be recognized as the indicator of emotion regulation ability.

Objective:To explore the effects of linagliptin on blood glucose, islet function and liver stiffness measurement (LSM) in patients with non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM).Methods:During the period from January 2019 to April 2020, 102 patients with NAFLD and T2DM in the Second Affiliated Hospital of Suzhou University were enrolled and divided into study group and control group according to different treatment methods, with 51 cases in each group. The control group was treated with metformin, while study group was treated with linagliptin and metformin. The clinical curative effect on fatty liver was observed and compared between the two groups. The levels of fasting blood glucose (FBG), glycated hemoglobin (HbA 1c), homeostasis model assessment of insulin resistance (HOMA-IR), homeostasis model assessment of islet insulin cell function index β (HOMA-β), alanine aminotransferase (ALT), serum aspartate aminotransferase (AST), glutamyl transpeptidase (GGT) and LSM before and after treatment were compared between the two groups. The occurrence of adverse reactions during treatment in both groups was recorded. Results:The total response rate of fatty liver treatment in study group was significantly higher than that in control group: 96.1% (49/51) vs. 82.4% (42/51), and there was statistical difference ( P<0.05). After treatment, levels of FBG, HbA 1c, HOMA-IR, serum ALT, AST, GGT and LSM in study group were significantly lower than those in control group: (7.1 ± 1.0) mmol/L vs. (7.9 ± 0.9) mmol/L, (7.5 ± 0.7)% vs. (7.9 ± 1.0)%, 3.2 ± 0.2 vs. 4.7 ± 0.3, (56.7 ± 10.4) U/L vs. (62.8 ± 8.2) U/L, (73.2 ± 6.8) U/L vs. (81.1 ± 6.7) U/L, (56.4 ± 10.2) U/L vs. (62.3 ± 8.1) U/L, (10.5 ± 3.3) kPa vs. (13.4 ± 1.6), the level of HOMA-β was significantly higher than that in control group: 48.5 ± 8.3 vs. 41.2 ± 7.1, and there were statistical differences ( P<0.05). The incidence of adverse reactions during treatment was low in both groups, and the difference was not statistically significant between the two groups ( P>0.05). Conclusions:Linagliptin can improve clinical curative effect on fatty liver in patients with NAFLD and T2DM, control blood glucose level, and improve islet function, liver function and liver fibrosis, with higher medication safety.

Objective To investigate the diffevential diagnostic value of preinvasive and invasive lung adenocarcinoma (including minimally invasive adenocarcinoma and invasive adenocarcinoma) presented as pure ground-glass nodules(pGGN) by CT.Methods One hundred and fifty-six cases of pGGN verified by operative pathology were retrospectively analyzed,including 58 ca ses of preinvasive adenocarcinoma and 98 cases of invasive adenocarcinoma(TNM staging were T1N0M0).The CT features and sex were statistically processed.The difference between the CT features and sex were performed by thex2 test.The ROC curve of lesion focus size was drawn.Results Statistically significant differences were found in the lesion shape,vacuole sign,air bronchogram,blood vessel through,tumor-lung interface and vascular cluster sign between the two groups(all P＜0.05).The ROC curve showed that the accuracy rate of invasive adenocarcinoma was 75.0％ when the size of the pGGN lesions was larger than 15.35 mm.Conclusion The lesion size,shape,vacuole sign,air bronchogram,blood vessels through and vascular cluster sign have some predictive value.

ObjectivesTo report pathological and genetic features of 6 Chinese families with Xlinked Charcot-Marie-Tooth disease type 1 ( CMTX1 ).Methods The index cases from 6 families with CMTX1 are males with onset of disease between 11 and 24 years old.All of them had distal leg muscle weakness,accompanied with areflexia and sensory loss in the feet.Additionally,the index 1 presented with recurrent encephalopathy and the index case 5 with cerebellar ataxia.Peripheral neuropathy was found in 12 family members,while other 7 members showed talipescavus and hyporeflexia.Sural nerve biopsies were performed in all index cases.Connexin 32(Cx32) gene was analyzed in the index cases,8 affected and 10unaffected family members as well as 50 healthy women control subjects.ResultsMild to moderate loss of myelinated fiber with axonal degeneration and regeneration clusters were found in all index cases. Thin myelin fibers were found in 5,small onion bulbs in 3 and inflammatory infiltrates in 2.Five novel mutations (I20T,I127F,D178G,A197V,403_404insT) and one L10L synonymous mutation were detected in the 6index cases and their affected family members.The same mutations,in heterozygous state,were detected in 4 female family members without clinical symptoms,but not found in 6 male unaffected family members.The same mutations were not found in healthy control subjects.ConclusionsThe CMTX1 patients in our study present predominantly axonal lesions.Frequent novel Cx32 gene mutations indicated that private mutations may be common in Chinese CMTX1 patients.

ObjectiveTo investigate expression distribution of mutant connexin 32 (Cx32) protein in human endothelial cells in patients with X-linked Charcot-Marie-Tooth disease type 1 ( CMTX1 ) .MethodsNerve biopsies were performed in 3 patients with CMTX1 and in 3 non-CMTX1 controls. Cx32 mutations of c. 379A ＞ T( I127F), c. 533A ＞ G(D178G) and c. 590C ＞ T(A197V) were identified in these 3 patients respectively.Immunofluorescent (IMF) staining of nerve blood vessel was processed with antibodies against Cx32, Yon Willebrand factor and Cx40. The mutant Cx32 was constructed in pEGFP-N plasmid (pEGFP-N1-Cx32) and was transfected in HeLa cells. Cx32 and GRP78, a marker of endoplasmic reticulum ( ER), were stained by IMF in HeLa cells to investigate expression of mutant Cx32. ResultsIn 3 control cases, Cx32 was visualized by IMF staining as dots along gap junction of vascular endothelial cells,and it was coexisted with Cx40.However, immunoreactivity of Cx32 in 3 patients was predominantly decreased and was not located in endothelial gap junction. The transfection of 3 Cx32 mutants into HeLa cells demonstrated thepathogenic changes.The cells withthemutationc. 379A ＞T found Cx32 accumulations in the cytoplasm; the cells with mutation c. 533A ＞G showed few staining positive dots surrounding the nuclear and the cells with c. 590C ＞ T showed dot-like expression of Cx32 both in the cytoplasmicand cell membrane. The mutant Cx32 was not overlapped with expression of the marker of ER.ConclusionsMutant Cx32 might cause dysfunction of endothelial gap-junctions due to the abnormal expression of Cx32 in level and location in the vascular endothelial cells of CMTX1 patients.