OBJECTIVETo investigate the association between single nucleotide polymorphisms (SNPs) of casein kinase I gamma 2 (CSNK1G2) gene and children with familial febrile convulsions.

METHODSThe study samples were collected from unrelated Chinese Han population of Hebei province, including a cohort of 53 children with familial febrile convulsions(FC) and a control cohort of 101 individuals. Genotypes of SNPs rs2074882, rs740423, rs2277737, rs4806825, rs1059684 were typed by polymerase chain reaction-restriction fragment length polymorphism.

RESULTSThe frequencies of the five SNPs complied well with the Hardy-Weinberg equilibrium in FC group and normal group. The distribution of genotype and frequencies of alleles of the SNPs rs740423, rs2277737, rs1059684 in familial febrile convulsions group was significantly different from that in control group. No significant difference was observed in the distribution of genotypes and frequencies of alleles at SNP rs2074882 between two groups. Analysis on rs4806825 was not made owing to its less allele frequency.

CONCLUSIONThese data indicate that SNPs rs740423, rs2277737, rs1059684 of CSNK1G2 gene may contribute to familial febrile convulsions in children.

Casein Kinase I ; genetics ; Child, Preschool ; Family Health ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Seizures, Febrile ; genetics

OBJECTIVETo compare the characterization of coronary atherosclerotic plaques in patients with unstable angina pectoris (UAP) and stable angina pectoris (SAP) by optical coherence tomography (OCT).

METHODSOCT was performed in 47 patients (23 UAP and 24 SAP) undergoing coronary angiography. Lipid-rich plaque (defined by > or = 2 quadrants of the cross-section area), thin cap fibroatheroma (TCFA), thickness of fibrous cap, plaque rupture, calcification and thrombus visualized by OCT were compared between UAP and SAP patients.

RESULTSOCT imaging was successfully in 44 out of 47 patients (22 UAP, 22 SAP). Proportion of lipid-rich plaques was similar between UAP and SAP groups [91% (20/22) vs. 73% (16/22), P = 0.741]. The minimum thickness of fibrous cap in the UAP group was significantly thinner than that in SAP group [(69.5 +/- 34.7) microm vs. (141.1 +/- 68.5) microm, P = 0.000] and the rate of fibrous cap erosion in the UAP group was significantly higher than that in the SAP group [59% (13/22) vs. 9% (2/22), P = 0.000]. Percents of TCFA [73% (16/22) vs. 14% (3/22), P = 0.000] and plaque rupture [50% (11/22) vs. 9% (2/22), P = 0.003] were significantly higher in UAP group compared those in SAP group. Incidence of thrombus and calcification were similar between two groups.

CONCLUSIONSOCT imaging can clearly define plaque characterization of coronary atherosclerosis. UAP patients have thinner fibrous cap, higher incidences of fibrous cap erosion, plaque rupture and TCFA compared patients with SAP.

Aged ; Angina Pectoris ; diagnostic imaging ; Angina, Unstable ; diagnostic imaging ; Coronary Artery Disease ; diagnostic imaging ; Female ; Humans ; Male ; Middle Aged ; Radiography ; Retrospective Studies ; Tomography, Optical Coherence

BACKGROUNDPremature ventricular contractions (PVCs) are common in the general population, and frequent PVCs may result in the poor quality of life or even the damage of cardiac function. We examined the efficacy and safety of a traditional Chinese medicine Wenxin Keli for the treatment of frequent PVCs among a relatively large Chinese cohort.

METHODSWe performed a randomized, double-blind, placebo-controlled, parallel-group, multicenter trial. A total of 1200 eligible participants were randomly assigned in a ratio of 1:1 to receive Wenxin Keli or the placebo for 4 weeks. The primary and secondary endpoint was the change of PVC numbers and PVC-related symptoms after a 4-week treatment compared with baseline, respectively. In addition, vital signs, laboratory values, and electrocardiographic parameters were assessed in a safety analysis.

RESULTSAt the initial evaluation, no significant differences in the baseline characteristics were observed between the Wenxin Keli group and the placebo group. A smaller number of PVCs was observed after the 4-week treatment than at baseline, in both the Wenxin Keli group (5686 ± 5940 vs. 15,138 ± 7597 beats/d, P < 0.001) and the placebo group (10,592 ± 8009 vs. 14,529 ± 5929 beats/d, P < 0.001); moreover, the Wenxin Keli group demonstrated a significantli greater reduction in the frequency of PVCs than the placebo group (P < 0.001). In a full analysis set, patients in the Wenxin Keli group exhibited significantly higher total effective responses in the reduction of PVCs compared to those in the placebo group (83.8% vs. 43.5%,P < 0.001). The per-protocol analysis yielded similar results (83.0% vs. 39.3%,P < 0.001). Treatment with Wenxin Keli also demonstrated superior performance compared to the placebo with respect to PVC-related symptoms. No severe adverse effects attributable to Wenxin Keli were reported.

CONCLUSIONSWenxin Keli treatment effectively reduced the overall number of PVCs and alleviated PVC-related symptoms in patients without structural heart diseases and had no severe side effects.

Adult ; Aged ; Double-Blind Method ; Drugs, Chinese Herbal ; adverse effects ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Quality of Life ; Treatment Outcome ; Ventricular Premature Complexes ; drug therapy

AIMTo investigate the effect of epigallocatechingallate (EGCG) on acute lung injury induced by oleic acid in mice and the possible mechanism.

METHODSAcute lung injury was induced by oleic acid in mice. Light microscopy and electron microscopy were used to examine histological changes and lung index as well as wet to dry weight ratio was calculated. Serum TNF-a level was measured by enzyme linked immunosorbent assay (ELISA) and the phosphorylation of p38 MAPK was determined by Western blotting.

RESULTSPretreatment of EGCG significantly alleviated oleic acid induced lung injury accompanied by reduction of lung index and wet to dry weight ratio, decreased of TNF-a level in serum and inhibition of phosphorylation of p38 MAPK.

CONCLUSIONEGCG showed beneficial effect on acute lung injury induced by oleic acid in mice. The ultimate reduction of TNF-alpha in serum caused by inhibition of phosphorylated p38 MAPK is involved in the mechanism of action of EGCG.

Animals ; Catechin ; analogs & derivatives ; pharmacology ; Lung ; pathology ; ultrastructure ; Male ; Mice ; Oleic Acid ; Phosphorylation ; drug effects ; Protective Agents ; pharmacology ; Respiratory Distress Syndrome, Adult ; chemically induced ; metabolism ; pathology ; Tumor Necrosis Factor-alpha ; metabolism ; p38 Mitogen-Activated Protein Kinases ; metabolism

OBJECTIVETo find a simple, fast, accurate, and quantitative PCR-based method for mutation detection, so as to identify mitochondrial DNA 11778 G-->A point mutation in patients with Leber's hereditary optic neuropathy (LHON).

METHODOn the basis of sequencing of mtDNA from LHON proband, M primer for mutation and N primer for normal were designed to be coupled with reverse primer respectively. Specific PCRs were done on an amplifying condition with high stringency such as a well controlled annealing temperature, low Mg2+ concentration and less thermal cycles. The objective pedigree includes 10 individuals, were against 40 normal control persons.

RESULTSDifferent ratios of indicative mtDNA 11778A-->G mutation were checked out from the proband, affected maternal members and a 10 year-old boy (up to now no appearance yet), whereas not appeared on normal spouses, paternal offsprings in the family, neither did on 40 controls.

CONCLUSIONThis site-specific PCR method is a kind of general mutation analysis way, without the restriction of existence of endonuclease site. It can be applied for the gene diagnosis of known-mutation hereditary diseases such as LHON.

Adult ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Male ; Optic Atrophy, Hereditary, Leber ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; methods

OBJECTIVETo evaluate coronary artery atherosclerotic plaque characteristics and changes post coronary stenting by optical coherence tomography (OCT).

METHODSOCT images were obtained in 22 diseased coronary vessels after coronary angiography or percutaneous coronary interventions (PCI) in 20 patients and in 23 stents [7 sirolimus-eluting stents (SES) follow up at 4-29 months post stenting and 8 bare mental stents (BMS) at 4-35 months post stenting, 8 stents immediately after PCI].

RESULTSAll 22 vessels and 23 stents OCT images were successfully acquired. Two thromboses, 8 fibrous, 9 lipid-rich and 3 calcium plaques as well as 3 plaque ruptures were visualized by OCT. No significant neointimal proliferation and restenosis were found in SES stents and some struts were not covered with neointima even at 29 months post stenting. Significant neointimal proliferation on surfaces of stent struts were visualized in all 8 BMS stents and restenosis was detected in 3 BMS stents. OCT images obtained immediately after PCI showed that 3 stents were well positioned, tissue prolapse between coronary stent struts occurred in 4 stents and stent dissociation with vessel wall could be seen in 1 stent.

CONCLUSIONSOCT imaging can clearly visualize different types of atherosclerotic plaques. By providing detailed information on plaque characteristics, this technique might help cardiologists in choosing suitable stents and guiding preventive therapy for patients with coronary heart disease.

Adult ; Aged ; Coronary Disease ; diagnostic imaging ; therapy ; Drug-Eluting Stents ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Radiography ; Sirolimus ; administration & dosage ; Stents ; Tomography, Optical Coherence

AIM:To investigate the effect of salvianolic acid B (Sal B) on high glucose-induced phenotypic transition and extracellular matrix (ECM) secretion in human glomerular mesangial cells (HGMCs) and the underlying mechanisms.METHODS:HGMCs were randomly divided into control group, high glucose group and high glucose plus high dose, medium dose and low dose of Sal B groups.The HGMCs except those in control group were exposed to high glucose (33.3 mmol/L) for 72 h, while those in Sal B groups were co-incubated with indicated concentrations of Sal B.The protein levels ofα-smooth muscle actin (α-SMA) , transforming growth () and phosphorylated Smad2 and p38 mitogen-activated protein kinase (MAPK) were determined by Western blot.The secretion levels of collagen type I (Col I) , collagen type III (Col III) , fibronectin (FN) and laminin (LN) were measured by ELISA.RESULTS:Exposure to high glucose markedly increased the protein expression ofI, Col III, FN and LN in the HG-MCs (P<0.01).The phosphorylation levels of Smad2 and p38 MAPK were also significantly increased (P<0.01).Coincubation with Sal B evidently decreased the protein expression ofI, Col III, FN and LN in the HGMCs induced by high glucose (P<0.05 or P<0.01).The phosphorylated levels of Smad2 and p38 MAPK were also reduced noticeably (P<0.05 or P<0.01).CONCLUSION:Sal B significantly suppresses high glucose-induced phenotypic transition and ECM secretion in the HGMCs, which might be attributed, at least partly, to inhibition ofSmad signaling pathway and p38 MAPK activation.

Objective To develop a time-resolved fluorescent immunoassay kit for the rapid,accurate and quantitative detection of S100B protein in serum and to evaluate its performance.Methods The test strip was prepared using time-resolved fluorescent microsphere-labeled anti-S100B polyclonal antibody and rabbit IgG antibody,labeling pads,sample pads,S100B nitrocellulose films and absorbent paper,and an S100B time-resolved fluorescence immunoassay kit was obtained by assembling the cartridge.The performance of the kit developed was evaluated by standard curve,accuracy,minimum detection limit,linear interval,specificity,reproducibility and stability.The reference intervals of 199 pieces of healthy human serum and plasma samples from a certain region were detected with the kit,and the clinical performance of the kit and Roche Elecsys S100 kit was tested by synchronous blind method to assess the consistency of the results of the two kits for 142 samples.Results The S100B time-resolved fluorescence immunoassay kit had the standard curve beingy=(1.133 02+1.752 24)/[1+(x/1.082 20)×(-0.603 52)]-1.752 24,R2=0.999 08 and the linear range being[0.05,30]ng/mL,which met the requirements of the relative deviation of the accuracy within±15％,the minimum detection limit not hgier than 0.05 ng/mL,the relative deviation of specificity within±15％and the coefficient of variation of intra-and inter-batch difference less than 15％.The stability test results indicated that the kit was valid for 12 months at 2-30 ℃ conditions.The reference intervals of serum and plasma samples measured by the kit were both lower than 0.3 ng/mL.Clinical trials showed that the results by the kit and Roche Elecsys S100 Assay Kit were in high agreement(Kappa=0.906 1＞0.80)and met the requirements.Conclusion The kit developed detects the concentration of S100B protein in serum quickly,accurately and quantitatively,and provides references for the diagnosis and treatment of neurological diseases,autoimmune diseases,cerebrovascular diseases and etc.[Chinese Medical Equipment Journal,2024,45(1):47-55]

Objective:To investigate the safety and effectiveness of robot-assisted total knee arthroplasty (TKA).Methods:From August 2021 to March 2022, the data of 69 patients who received robot-assisted TKA for inflammatory disease of knee in 6 hospitals were collected, including 24 males and 45 females, aged 52±6 years (range, 46-72 years), including 53 cases of knee osteoarthritis,10 cases of rheumatoid arthritis, and 6 cases of traumatic arthritis. Imaging data examination of patients was completed according to the multicenter specification. Preoperatively, the patient's CT data were extracted before surgery and a personalized prosthesis positioning plan was designed by the robotic system to determine the prosthesis size, lower limb force lines, and femoral and tibial osteotomy volumes; intraoperatively, the osteotomy template was robotically controlled to complete the osteotomy according to the prosthesis positioning plan, and the intraoperative osteotomy volumes were measured to verify the accuracy of the robot-assisted TKA osteotomy with the preoperative planning. Postoperatively, the lateral angle of the distal femur, the medial angle of the proximal tibia and the hip-knee-ankle angle were measured in the coronal plane according to radiographs; the postoperative outcome was evaluated 3 months after operation, using the American Knee Society score (KSS), including the KSS knee score and functional score.Results:The operative time was 97.3±2.3 min (range, 80-110 min) and the amount of bleeding was 320.0±6.2 ml (range, 300-350 ml) in 69 patients. Three months after operation, the mean range of motion of knee joint was increased from 82.2°±1.1° before surgery to 119.7°±0.8° after surgery ( t=27.65, P<0.001), and the line of force of lower limb was improved from 160.9°±0.5° before surgery to 178.0°±0.2° after surgery ( t=32.03, P<0.001). KSS-knee score increased from 54.8±0.7 points before operation to 85.0±0.5 points after operation, and KSS-functional score increased from 56.5±0.7 points before operation to 85.9±0.4 points after operation, the difference was statistically significant ( t=35.45, 36.58, P<0.001). The proportion of patients with intraoperative femoral and tibial osteotomies within 2 mm osteotomy error compared with preoperative planning was 97% for the lateral tibial plateau, 100% for the medial tibial plateau, 100% for the lateral distal femur, 99% for the medial distal femur, 93% for the lateral posterior femoral condyle, and 100% for the medial posterior femoral condyle; The proportion of patients with postoperative anteroposterior X-ray measurement angle error within 3° was: 100.0% for the distal lateral femoral angle, 100.0% for the proximal medial tibial angle, and 100% for the hip-knee-ankle angle. No complications occurred in all patients except for one case in which fat liquefaction occurred in the postoperative wound. Conclusion:Robot-assisted TKA is a safe and effective surgical method for the treatment of inflammatory disease of knee with accurate prosthesis installation and good postoperative recovery of lower limb alignment.

OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.

METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.

RESULTSThe C1494T mutation did not appear in all cases except for the positive control.

CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.

Adolescent ; Aminoglycosides ; adverse effects ; Anti-Bacterial Agents ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Child ; China ; DNA, Mitochondrial ; genetics ; Female ; Hearing Loss ; chemically induced ; ethnology ; genetics ; Humans ; Male ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Ribosomal ; genetics