OBJECTIVE: To explore the synergistic immunomodulatory mechanism of interferon alpha-1b, interleukin-2 and thalidomide (ITI) regimen on patients with acute myeloid leukemia (AML). METHODS: Sixty eight untreated de novo or relapsed or refractory or maintenance therapy patients with AML admitted in the Affiliated Cancer Hospital of Zhengzhou University and the other 11 medical units from March 2016 to May 2019 were treated with ITI regimen. Peripheral blood specimen per patient was collected into EDTA-K3 anticoagulation vacuum tube before the administration of ITI and 3 months after the treatment; peripheral blood lymphocyte subsets and perforin and Granzyme B expression were analyzed by using flow cytometry; the levels of VEGF, IFN-γ, TNF-α and IL-6 in the plasma were detected by using a cytometric bead array. Thirty-five healthy subjects from the hospital physical examination centre were selected as normal controls. RESULTS: The ratio of CD4 CONCLUSION The ITI regimen can raise the ratio of CD4
CD8-Positive T-Lymphocytes ; Humans ; Interferon-alpha ; Interleukin-2 ; Leukemia, Myeloid, Acute/drug therapy* ; Perforin ; Thalidomide

Amyloid ; Amyloid Neuropathies, Familial/genetics* ; China ; Humans ; Mutation ; Prealbumin/genetics*

Objective:To explore the effects of information-motivation-behavior (IMB) model combined with solution focused approach (SFA) in primary large liver cancer (PLLC) .Methods:From January 2017 to January 2018, this study selected 123 PLLC patients of the Affiliated Cancer Hospital of Zhengzhou University as subjects by convenience sampling. All of patients were divided into group A ( n=61) and group B ( n=62) with the random number table. Group A carried out the routine nursing model, while group B implemented the IMB model combined with the SFA. The intervention effects were evaluated with the Quality of Life-Liver Cancer (QOL-LC) , the Chinese Strategies Used by People to Promote Health (C-SUPPH) and the Herth Hope Index (HHI) . Results:Among those PLLC patients between two groups, there were no statistical differences in the scores of QOL-LC, C-SUPPH and HHI on admission ( P>0.05) . The scores of QOL-LC, C-SUPPH and HHI of PLLC patients in group B at discharge, 15 days after discharge were higher than those in group A with statistical differences ( P<0.05) . Conclusions:In the process of clinical intervention for PLLC patients, scientific and reasonable IMB model combined with SFA based on patients' condition can improve the scores of QOL-LC, C-SUPPH and HHI which is one of the subsidiary intervention for improving the whole therapeutic effects and has good application as well as promotion values.

BACKGROUNDSH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.

METHODSA total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.

RESULTSWe identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.

CONCLUSIONSSH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.

Brain magnetic resonance imaging (MRI) of the elderly often reveals white matter changes (WMCs) with substantial variability across individuals.Our study was designed to explore MRI features and site-specific factors of ischemic WMCs.Clinical data of consecutive patients diagnosed with ischemic cerebral vascular disease who had undergone brain MRI were collected and analyzed.Multi-logistic regression analysis comparing patients with mild versus severe WMCs was performed to detect independent associations.Analyses of variance (ANOVAs) were used to detect regionally specific differences in lesions.We found that lesion distribution differed significantly across five cerebral areas,with lesions being predominant in the frontal lobe and parieto-occipital area.To explore WMCs risk factors,after adjusting for gender,diabetes mellitus,and hypertension,only age (P＜0.01),creatinine (P=0.01),alkaline phosphatase (ALP) (P=0.01) and low-density lipoprotein cholesterol (LDL-C) (P=0.03) were found to be independently associated with severe WMCs.Age (P＜0.001) was strongly associated with WMCs in the frontal lobe while hypertension was independently related to lesions in the basal ganglia (P=0.048) or infratentorial area (P=0.016).In conclusion,MRI of WMCs showed that ischemic WMCs occurred mostly in the frontal lobe and parieto-occipital area.The infratentorial area was least affected by WMCs.Typically,age-related WMCs were observed in the frontal lobes,while hypertension-related WMCs tended to occur in the basal ganglia and infratentorial area.

BACKGROUNDIt has not been solved what kind of needle sensation might influence outcomes of acupuncture treatment. Effects of personality factors on the therapeutic effect of acupuncture have not been investigated. This study aimed to find the effects of the traits of personality on the objective outcome when different acupuncture techniques were used in treating patients with Bell's palsy.

METHODSWe performed a secondary analysis of a prospective multicenter randomized controlled trial of acupuncture for Bell's palsy. Patients were randomly assigned to the de qi and control groups, respectively. The primary outcome was facial nerve function at month 6. The intensity of each needle sensation was rated by a visual analog scale. Psychosocial factors were assessed by the pretreatment mediator questionnaire; 16 Personality Factor Questionnaire (16PF) was used for assessing personality factors and digit cancellation test for assessing attention.

RESULTSAfter 6 months, patients in the de qi group had better facial function (adjusted odds ratio [OR]: 4.16, 95% confidence interval [CI]: 2.23-7.78). Path analysis showed that intensity of needle sensation of fullness had direct effect on House-Brackmann (HB) score at month 6. In de qi group, the low HB score on day 1 (OR: 0.13, 95% CI: 0.03-0.45) and the low Social Boldness score (OR: 0.63, 95% CI: 0.41-0.97) in 16PF were associated with better facial function. In control group, low HB score on day 1 (OR: 0.25, 95% CI: 0.13-0.50), low Vigilance score (OR: 0.66, 95% CI: 0.50-0.88), and high Tension score (OR: 1.41, 95% CI: 1.12-1.77) in 16PF were related to better facial function.

CONCLUSIONSThe needle sensation of fullness could predict better facial function and personality traits might influence outcomes of acupuncture treatment. Both of them should be considered seriously in acupuncture treatment and research.

Acupuncture Therapy ; Adolescent ; Adult ; Aged ; Bell Palsy ; psychology ; therapy ; Facial Nerve ; physiopathology ; Female ; Humans ; Male ; Middle Aged ; Needles ; Odds Ratio ; Personality Tests ; Recovery of Function ; Surveys and Questionnaires ; Treatment Outcome ; Young Adult

Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
Charcot-Marie-Tooth Disease ; classification ; diagnosis ; genetics ; Humans

OBJECTIVETo study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability.

METHODSBy using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluorescent protein (GFP) vector were transfected into SHSY-5Y cell, respectively. Twenty-four hours later, the cells were treated with 44 degree centigrade lethal heat shock for 40 minutes. The relative viability of SHSY-5Y cells in each group was tested by using tetrazole blue colorimetric method (methyl thiazolyl tetrazolium, MTT).

RESULTSThere were significant differences among the light absorption value of GFP, pEGFP-(wt)HSPB8 and pEGFP-(K141N)HSPB8 transfected groups after heat shock (P<0.05), indicating that the relative viability of cells overexpressed with (wt)HSPB8 and (K141N)HSPB8 was different from that of control cells. The viability of cells overexpressing (wt)HSPB8 was highest, followed by cells overexpressed with (K141N)HSPB8. The viability of cells tranfected with GFP only was the lowest.

CONCLUSIONHSPB8 may play an important role in the protection of cells under lethal heat shock treatment, and the K141N mutation can impair the protective effect.

Cell Line, Tumor ; Cell Survival ; genetics ; Charcot-Marie-Tooth Disease ; genetics ; metabolism ; Gene Expression Regulation ; Genetic Vectors ; genetics ; Heat-Shock Proteins ; genetics ; metabolism ; Humans ; Mutation ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; metabolism

OBJECTIVETo observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL.

METHODSEukaryotic expression vectors pEGFPN1-(wt) HSPB1 and pEGFPN1- (R127W) HSPB1 were constructed. Hela cells were transiently transfected with pEGFPN1-(wt) HSPB1 or pEGFPN1- (R127W) HSPB1 and observed under a confocal microscope. Hela cells were also transiently co-transfected with Pcl-NFL and pEGFPN1-(wt)HSPB1, or pCL-NFL and pEGFPN1-(R127W)HSPB1. The self-assembly of NFL was observed and the co-localization study of HSPB1/ (R127W)HSPB1 with NFL was carried out in these two cell models by immunofluorescence technique.

RESULTSThe aggregates formed by EGFP-(R127W)HSPB1 predominantly located around the nucleus, and EGFP-(wt)HSPB1 showed diffusion pattern in Hela cells. When co expressed with EGFP-(wt)HSPB1, NFL formed homogeneous structure in cytosol. When co-expressed with EGFP-(R127W)HSPB1, however, NFL had amorphous staining pattern predominantly consisting of NFL aggregates, and NFL co-localized with (R127W)HSPB1 in these aggregates.

CONCLUSIONThe R127W mutant of HSPB1 may have reduced capacity to serve as a chaperone to prevent aggregate formation, and fail to correctly organize the neurofilament network. Dysfunction of the axon cytoskeleton and axon transport may be the primary mechanism of R127W mutation of HSPB1 in the pathogenesis of Charcot-Marie-Tooth disease.

Base Sequence ; Charcot-Marie-Tooth Disease ; genetics ; metabolism ; Gene Expression Regulation ; Genetic Vectors ; genetics ; HSP27 Heat-Shock Proteins ; genetics ; metabolism ; HeLa Cells ; Humans ; Intracellular Space ; metabolism ; Mutant Proteins ; genetics ; metabolism ; Neurofilament Proteins ; metabolism ; Protein Binding ; genetics ; Protein Transport ; Transfection

Objective To explore the distribution of lecithin cholesterol acyltransferase (LCAT)gene 511C/T polymorphism in Chinese Han population and the association of its polymorphism with the occurrence of cerebral hemorrhage (CH). Methods The LCAT gene 511C/T polymorphism was identified by PCR, single-strand conformation polymorphism (SSCP) and DNA sequencing in 150 patients with CH and 122 age- and gender-matched healthy controls. Results The 511 situs of the fourth extron in LCAT gene existed polymorphism; C/T in this situs of both groups satisfied Hardy-Weinberg equilibrium. The CT genotype frequency (3.3%) and T allele frequency (1.7%) in patient group were not significantly higher than those (1.6%, 0.8%, respectively) in controls (P＞0.05).The level of high-density lipoprotein cholesterol (HDL-C) in 511CC subgroup ([1.44±0.42] mmol/L) was significantly higher than that in 511CT subgroup ([1.06±0.30] mmol/L) of patient group (P＜0.05).Conclusion The LCAT gene 511C/T polymorphism is not possibly a predisposing factor of CH in Chinese Han population. T allele frequency might be connected with the metabolism of HDL-C.