Objective To assess mutations in the ALDH3A2 gene in two patients with Sj(o)gren-Larsson syndrome manifesting primarily as congenital ichthyosis,mental retardation and spastic paraplegia.Methods Two patients,a 2-year-old girl and a 1.5-year-old boy,with Sj(o)gren-Larsson syndrome were included in this study.None of their family members suffered from this disease.Peripheral blood samples were collected from the two patients,their family members (an elder brother and both parents),and 100 unrelated healthy controls.DNA was extracted from the blood samples,and subjected to PCR for the amplification of 10 encoding exons and their flanking sequences of the ALDH3A2 gene followed by DNA sequencing.Results A homozygous missense mutation c.325G ＞ A,which leads to the substitution of glycine by arginine at position 109,was detected in the ALDH3A2 gene of patient 1,whose parents and elder brother were heterozygous carriers of this mutation.The patient 2 carried compound heterozygous mutations,including c.1157A ＞ G (p.Asn386Ser) inherited from his father and c.1294A ＞ T (p.Arg432X) inherited from his mother.None of these mutations was detected in the unrelated healthy controls.Conclusion The homozygous mutation p.Gly109Arg and compound heterozygous mutations p.Asn386Ser and p.Arg432X present in these patients may be associated with clinical phenotypes of Sj(o)grenLarsson syndrome.

Objective To investigate clinical significance of soluble CD14 subtype presepsin for diagnosing,evaluating severity and predicting prognosis of acute infections in elderly patients.Methods Sixty elderly emergency patients without acute infections as control and 117 elderly emergency patients with acute infections were enrolled.Patients with infections were divided into the systemicinflamatory response syndrome(SIRS) (infection+ SIRS group,n =59),sepsis group (n =41)and septic shock group(n=17),and were further divided into survival group(n=90)and death group (n=27)according to 30-day mortality.Serum levels of presepsin and procalcitonin (PCT)were measured by using enzyme-linked immunosorbent assay(ELISA)within 24 hours after doctors' office visiting.The mortality in emergency department sepsis(MEDS) scores was evaluated.Clinical value and correlations of presepsin and PCT in diagnosis,disease evaluation and prognosis evaluation were compared and analyzed Results Presepsin level was higher in acute infection group than in no-infection group[734.0(422.5,1120.0) ng/L vs.159.50 (119.0,234.3) ng/L,P ＜0.05].Presepsin level was 423.0(266.3,554.0)ng/L in infection+SIRS group,1042.0(854.0,1213.0)ng/L in sepsis group,and 2188.0(1599.5,2946.0) ng/L in septic shock group,with statistically significant differences among infection+SIRS group,sepsis group and septic shock group(P ＜0.05).No significant differences in PCT levels were found between sepsis group and septic shock group[4.4(1.4,16.9)ng/L,vs.8.8 (0.7,51.1)ng/L,P＞0.05].MEDS had no difference between sepsis group and septic shock group [(13.0(11.0,17.5) vs.15.0 (11.5,19.5),P ＞ 0.05].There were significant differences in serum levels of presepsin(554.0ng/L vs.1232.5 ng/L),PCT(1.18 μg/L vs.10.07 μg/L) and MEDS(9.0 vs.18.0)between the survival group and the death group(P＜0.05),and their area under a receiver operating characteristic(ROC) curve was (0.853 ± 0.037),(0.732 ± 0.057) and (0.900 ± 0.034)respectively.Serum level of presepsin was moderately correlated with MEDS(r =0.609,P =0.00)and lowly correlated with PCT(r =0.477,P =0.00).Conclusions Presepsin is a good biomarker for acute infection,which has better clinical value for diagnosis,severity evaluation and prognostic prediction of acute infections in elderly patients.

Objective To elucidate the difference between methicillin-resistant Staphylococcus aureus (MRSA)and methicillin-sensitive S.aureus (MSSA)in terms of genotypes and distribution of virulence genes with the clinical strains isolated from Hohhot,and explore the relationship between the changing resistance of S.aureus and the virulence transition.Methods Pulsed field gel electrophoresis (PFGE)and multi locus sequence typing (MLST)methods were employed to do molecular typing for 30 MRSA strains and 30 MSSA strains isolated from inpatients in Hohhot,Inner Mongolia.PCR method was used to profile the distribution of virulence genes among these strains.Results PFGE typing results showed that 60 S.aureus strains were classified into 19 major types.MSSA strains belonged to 16 types,mainly types I and H.MRSA strains mainly belonged to types of K and M.Among the 20 strains with different PFGE types,MRSA strains were mainly identified as ST-239 type.but the prevalence of sec ,seg ,sei,sem,sen,seo,fnbB ,ebpS and cap 5 was higher in MSSA strains than in MRSA strains (P<0.05).Conclusions The clinical strains of S .aureus isolated from Hohhot showed diverse genotyping features.ST-239 was the major PFGE type of MRSA strains.The prevalence of virulence genes was higher in MSSA strains than in MRSA strains. Characteristic cluster is found for specific virulence genes.The results also suggest that acquisition of specific antibiotic resistance may be associated with change of specific virulence feature in S.aureus.

This paper is mainly devoted to the relationship between the correlation dimension (CD) of exercise heart rate variability (EHRV) and the status of cardiovascular function. Hypertensive patients and healthy people were enrolled in two contrast groups. Dynamic electrocardiograph (ECG) in step exercise was recorded. EHRV was extracted by wavelet transform. The CDs in the whole course of exercise and in three stages of exercise were calculated, the three stages being named rest-before-exercise, during-exercise, and after-exercise. SPSS software was used for statistical analysis. The results revealed all the CDs showed significant difference between two groups except that in the stage of during exercise. By discrimination analysis, the average correct rate was 92.2%. It indicated that the CD in stress status probably could be an effective non-linear parameter for assessing cardiovascular function status.
Adult ; Aged ; Case-Control Studies ; Electrocardiography ; methods ; Exercise ; physiology ; Exercise Test ; Female ; Heart Rate ; physiology ; Humans ; Hypertension ; physiopathology ; Male ; Middle Aged ; Nonlinear Dynamics ; Signal Processing, Computer-Assisted ; Young Adult

ObjectiveThis study aimed to evaluate the clinical efficacy of Ruyi Zhenbaowan（RYZBW）in the treatment of initial and early knee osteoarthritis （KOA） through a prospective multicenter，randomized，double-blind，and placebo-parallel controlled trial. MethodFrom October 13^th， 2021 to December 25^th， 2021， 240 KOA subjects meeting the acceptance criteria were enrolled in 15 sub-centers including Wangjing Hospital， Chinese Academy of Chinese Medical Sciences， and they were randomly divided into observation group and control group， with 120 cases in each group. The intervention measures for the observation group were RYZBW + health education， and the intervention measures for the control group were RYZBW placebo + health education. The intervention period in both groups was four weeks， and they were followed up for four weeks after the intervention. The primary outcome measure was the total score of Western Ontario and McMaster University Osteoarthritis Index score （WOMAC score）， and the secondary outcome measures were the response rate of visual scale （VAS） pain score， WOMAC sub item scores （joint pain， joint stiffness， and joint function）， quality of life （SF-12） score， and traditional Chinese medicine （TCM） syndrome score. Result（1） Efficacy evaluation. The marginal model results showed that the observation group was better than the control group in improving the WOMAC total score and WOMAC pain score in the treatment of KOA with RYZBW， and the difference was statistically significant （P<0.05）. There was no significant difference between the two groups in improving VAS score response rate， WOMAC function score， WOMAC stiffness score， SF12-PCS （quality of life-physical health） score， SF12-MCS （quality of life-mental health） score， and TCM syndrome score. （2） Subgroup analysis. ① In terms of VAS score response rate， the response rate of the observation group was higher than that of the control group for subjects with baseline VAS score of （4， 5］， and the difference was statistically significant （P<0.05）. ② In terms of TCM syndrome score， for subjects aged ［56， 60］ and ［61， 65］， the decrease in total TCM syndrome score in the observation group was better than that in the control group， and the difference was statistically significant （P<0.05）. ConclusionTibetan medicine RYZBW has good clinical efficacy in improving WOMAC total score， VAS score response rate， WOMAC pain score， WOMAC function score， and TCM syndrome score for patients with initial and early KOA， which can fill the lack of Tibetan medicine RYZBW in the treatment of KOA and make a demonstration study for the inheritance and development of ethnic medicine.