Objective To explore the correlation between the expression of long non-coding RNA(lncRNA)brain ischemia-related factor(BIRF)and focally amplified lncRNA on chromosome 1(lncRNA FAL1)in serum and the degree of white matter lesions(WML)in patients with cerebral small vessel disease(CSVD).Methods From June 2021 to June 2023,102 CSVD patients admitted to Affiliated Hospital of Chengde Medical University were collected,and these patients were grouped into WML group(n=72)and non WML group(n=30)based on WML diagnostic criteria.According to the Fazekas score,the WML group was further grouped into mild WML group(n=24),moderate WML group(n=36)and severe WML group(n=12).Real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)was applied to detect the levels of lncRNA BIRF and lncRNA FAL1 in serum.Pearson correlation was applied to analyze the correlation between serum lncRNA BIRF and lncRNA FAL1 levels.Receiver operating characteristic(ROC)curve was applied to analyze the diagnostic value of serum lncRNA BIRF and lncRNA FAL1 levels for severe WML in CSVD patients.Results The age(70.50±5.86 years),history of hypertension(Yes/No,43/29),history of diabetes(Yes/No,45/27),IL-33(68.35±6.80 pg/ml),IL-18(97.78±9.65 ng/L),ubiquitin carboxyl terminal hydrolase L1(UCH-L1)(0.29±0.10 μg/L)and lncRNA BIRF level(2.45±0.30)of patients in the WML group were higher than those in the non WML group(67.10±5.76 years,11/19,9/21,62.48±6.13 pg/ml,92.56±9.37 ng/L,0.24±0.06 μg/L,1.02±0.11),while the expression of serum lncRNA FAL1(0.52±0.10)was lower than that in the non WML group(1.04±0.15),with significant differences(t=2.683,4.518,8.978,4.085,2.510,2.550,25.346,20.500,all P<0.05).The serum lncRNA BIRF levels of CSVD patients in the mild,moderate and severe WML groups(2.23±0.23,2.47±0.31,2.82±0.42)were increased sequentially,while the expression of serum lncRNA FAL1(0.60±0.15,0.51±0.09,0.40±0.04)was decreased sequentially,with significant differences(F=14.913,13.899,all P<0.05).Pearson correlation analysis,the serum levels of lncRNA BIRF and lncRNA FAL1 in patients with WML were negatively correlated(r=-0.603,P<0.001),serum lncRNA BIRF was positively correlated with Fazekas score in WML patients(r=0.483,P<0.001),but serum lncRNA FAL1 was negatively correlated with Fazekas score(r=-0.507,P<0.001).The AUCs of serum lncRNA BIRF and lncRNA FAL1 levels alone and both combination for predicting severe WML in CSVD patients were 0.756(0.641～0.850),0.839(0.733～0.915)and 0.892(0.796～0.953),respectively,and the combination of the two was superior to the detection of serum lncRNA BIRF alone(Z=2.111,P=0.035).Conclusion The serum lncRNA BIRF level is increased and lncRNA FAL1 is reduced in patients with CSVD and WML,and both are related to the degree of WML in CSVD patients.

Macrophage as a crucial component of innate immunity, plays an important role in inflammation and infection immunity. Notch signal pathway is a highly conserved pathway, which regulates cellular fate and participates in numerous pathological processes. At present, a lot of literature has confirmed the role of Notch signaling in regulating the differentiation, activation and metabolism of macrophage during inflammation and infection. This review focuses on how Notch signaling promotes macrophage pro-inflammatory and anti-infective immune function in different inflammatory and infectious diseases. In this regulation, Notch signaling interact with TLR signaling in macrophages or inflammatory-related cytokines including IL-6, IL-12, and TNF-α. Additionally, the potential application and challenges of Notch signaling as a therapeutic target against inflammation and infectious diseases are also discussed.
Humans ; Signal Transduction ; Macrophages ; Cytokines/metabolism* ; Inflammation/metabolism* ; Communicable Diseases ; Receptors, Notch/metabolism*

Oxidative Phosphorylation ; Acetylglucosamine ; Uridine Diphosphate N-Acetylglucosamine/metabolism*

OBJECTIVE: To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to harbor a hemizygous c.1565C>T missense variant in exon 11 of the KDM5C gene. The transition has resulted in replacement of serine by phenylalanine at position 522 (p.Ser522Phe). Sanger sequencing showed that the patient's two elder brothers and mother carried the same variant, which was predicted to be probably damaging by SIFT, PolyPhen2 and Mutation_Taster. The three affected brothers presented with similar clinical phenotypes characterized by mental retardation, speech delay, behavioral problem, self-limited epilepsy responsible to medication, short stature and microcephaly. The mother only had mild cognitive impairment and learning disability. The same variant was not found in their father and was unreported previously. CONCLUSION The c.1565C>T (p.Ser522Phe) of the KDM5C gene probably underlay the X-linked recessive mental retardation Claes-Jensen type in this pedigree.
Aged ; Female ; Histone Demethylases/genetics* ; Humans ; Male ; Mental Retardation, X-Linked/pathology* ; Mutation, Missense/genetics* ; Pedigree ; Phenotype ; Whole Exome Sequencing

Objective　To study the relationship between cerebral artery stenosis and homocysteine（HCY） level and methylenetetrahydrofolate reductase（MTHFR）C677T gene polymorphism in ischemic youth stroke. Methods　50 patients with ischemic young stroke were randomly selected from department 2 of neurology，China-Japan Union Hospital of Jilin University，41 of whom met the inclusion criteria. They were divided into stenosis group（20 cases） and non-stenosis group（21 cases） according to the presence or absence of cerebrovascular stenosis. The plasma HCY level and MTHFR C677T gene polymorphism were measured and analyzed statistically. Results　In 41 patients，HCY level CC genotype（10.61±2.66）μmol/L was lower than TT genotype（19.65±14.43）μmol/L（P=0.033） and CT+TT genotype（16.65±12.48）μmol/L（P=0.015）. HCY levels in cerebral artery stenosis group and non-stenosis group were（20.44±14.70）μmol/L，（11.03±4.40）μmol/L（P=0.012） respectively（P= 0.012）. The level CC genotype 12.23±2.18 μmol/Lof HCY in stenosis group was lower than TT genotype（28.55±16.82）μmol/L（P=0.043） and CT+TT genotype（22.48±15.82）μmol/L（P=0.023）. The HCY level of CC genotype（8.46±1.40）μmol/L in non-stenosis group was lower than that of TT genotype（11.86±5.0）μmol/L（P=0.161） and CC+TT genotype（11.46±4.60）μmol/L（P=0.048）. The level of the same genotype HCY in the two groups was（28.55±16.82）μmol/L，（11.86±5.02）μmol/L（P=0.040），the CC genotype was（12.23±2.18）μmol/L，（8.46±1.40）μmol/L（P=0.049），and the CT genotype was（17.77 ±14.12）μmol/L，（11.14±4.48）μmol/L（P=0.178）. TT，CT and CT+TT genotypes of MTHFR C677T in the two groups were respectively compared with CC genotype P>0.05，and T was compared with C allele P>0.05. Logistic regression analysis showed that HCY（OR=1.168，95%CI 1.015～1.344，P=0.030） was a risk factor for cerebrovascular stenosis. Conclusion　The level of HCY is a high risk factor for cerebral artery stenosis in ischemic young stroke patients. TT genotype of MTHFR C677T is the key factor affecting plasma HCY level，but C677T genotype and allele frequency have no direct correlation with cerebral artery stenosis.

Arsenic trioxide (ATO) is used as a chemotherapeutic agent for the treatment of acute promyelocytic leukemia. However, increasing drug resistance is reducing its efficacy. Therefore, a better understanding of ATO resistance mechanism is required. In this study, we established an ATO-resistant human epidermoid carcinoma cell line, KB/ATO, from its parental KB-3-1 cells. In addition to ATO, KB/ATO cells also exhibited cross-resistance to other anticancer drugs such as cisplatin, antimony potassium tartrate, and 6-mercaptopurine. The arsenic accumulation in KB/ATO cells was significantly lower than that in KB-3-1 cells. Further analysis indicated that neither application of P-glycoprotein inhibitor, breast cancer resistant protein (BCRP) inhibitor, or multidrug resistance protein 1 (MRP1) inhibitor could eliminate ATO resistance. We found that the expression level of ABCB6 was increased in KB/ATO cells. In conclusion, ABCB6 could be an important factor for ATO resistance in KB/ATO cells. The ABCB6 level may serve as a predictive biomarker for the effectiveness of ATO therapy.

Objective To explore the clinical characteristics and outcome of correction with Ilizarov fixator for the knee deformities.Methods From May 2003 to April 2010,21 patients (22 knees) underwent knee deformity correction with Ilizarov fixator,including 12 males and 9 females with an average age of 20.3 years (range,8-48).Causes of the deformities included poliomyelitis in 4,burn in 2,osteomyelitis in 2,trauma in 9,Blount diseases in 2,and multiple osteochondromatosis in 2.Five patients had fixed flexion contracture due to soft tissue,they were corrected through a combination of Ilizarov's frame crossover the joint with a pair of hinges by gradual posterior distraction.Eight patients (9 limbs) had one way bony deformities and 7 patients had complex deformations.The frame with 4 hinge-posts was used for correction by restoring the alignment firstly,and then gradual lengthening to correct bone shortening.Additionally,an overlay frame of the above mentioned combinations was applied for correction of bony deformity combined with soft tissue contracture for 1 patient.Results The average time in frame was 22.3 weeks (range,12-36).At the time of removing frame,satisfactory alignment was achieved in all of the affected knees,and solid bony healing was obtained in osteotomy or bone lengthening area in 16 patients (17 limbs) with bony correction.All patients were followed up for an average of 32.1 months (range,6-86).The range of motion was improved from 102.14°±49.36° preoperatively to 126.90°±24.31° at the final follow-up.Additionally,the Japanese Orthopaedic Association knee score was also increased from 50.24±23.64 before operation to 85.71±10.52 at the final follow-up.All of them were able to walk without crutches,deal with daily life independently.Only 2 patients with the range of motion of the knee less than 90° were not able to squat.Conclusion Ilizarov fixator has advantages of minimal intervention to local tissue in operation and nimble adjustment at any time,and disadvantages related to a longer time in frame.

Objective To evaluate the significance of color Doppler ultrasound examination of renal blood flow combined with the detection of bone morphogenetic protein-7(BMP-7)in early diagnosis of type 2 diabetic nephropathy.Methods Blood BMP-7 level was tested in 90 patients with type 2 diabetic nephropathy and 30 controls,and parameters of renal blood flow were measured by color Doppler ultrasound examination.Blood BMP-7 level as well as resistant index(RI)of segmental renal artery(SRA)and interlobar renal artery(IRA),were compared between these two groups.Results Compared with controls,blood BMP-7 level gradually decreased with the aggravation of diabetic kidney damage(P＜0.01).The peak systolic velocity(Vmax)and the end diastolic velocity(Vmin)of SRA and TRA were slowed gradually,while RI increased(P＜0.01).Blood BMP-7 level was negatively correlated with IRA's and SRA's RI of IRA and SRA(r =-0.603,P＜0.01;r =-0.652,P＜0.01).Conclusions Color Doppler ultrasound examination of renal blood flow combined with detection of BMP-7 might play an important role in early diagnosis of type 2 diabetic nephropathy.

Objective To evaluate the skill and outcome of arthroscopic reconstruction of posterior cruciate ligament (PCL) with retention of PCL remnant. Methods From April 2004 to June 2006, 38 patients (38 knees) with PCL deficiency were verified by clinical and arthroscopic examinations. Of them, there were 9 knees combined with disruption of the posterolateral comer, 6 with rupture of the posteromedial corner, 8 with lateral meniscus tear and 4 with medial meniscus tear. With reservation of PCL remnant and synovium, all the impaired PCLs were reconstructed with single bundle of autogenous quadrupled hamstring tendons under arthroscopy. Interference screws were used for direct anatomic fixation of the reconstructed ligament. Results No severe comphcations occurred at early stage after operation in all 38 patients who were followed up for 12-37 months (average 20.79 months). Lysholm score was improved significandy from 40-70 points (mean 51.32 pints) before operation to 70-100 pints (mean 92.37 points) at the latest follow up (t=-30.14, P<0.01). According to International Knee Documentation Committee (IKDC) score, there was a remarkable improvement from 16 abnormal knees (grade C) and 22 severely abnormal knees (grade D) preoperatively to 18 normal knees ( grade A), 18 nearly normal knees (grade B) and 2 abnormal knees at the latest follow up (Z=-6.00, P <0.01). Of 38 patients, 36 returned to normal sports level but 2 degraded level of sports. Conclusions Arthroscopic PCL reconstruction with retention of PCL remnants is a feasible technique, with satisfactory outcome. Preservation of PCL remnants and synovium may be beneficial to biological incorporation and reinnervation of the reconstructed ligament.

To study the effect of the osmotic stress in the microenvironment on the growth and metabolism of the encapsulated cells under aerobic condition, Osmo-sensitive yeast Y02724 and high-osmotic resistant yeast Hansel were used as models to explore the growth and metabolism state of the cells cultivated inalginate-chitosan-alginate (ACA) microcapsules. The changes of the yeast cells' specific growth rate, maximum product quantity and the secretion of ethanol and glycerol were analyzed. For Y02724, the yield of ethanol was increased in the ACA microenvironment compared to suspension cultivation. For Hansel, the maximum growth speed of microencapsulated cultivation had no obvious difference compared to the suspension cultivation. Moreover, after encapsulation, the production of glycerol was decreased for both Y02724 and Hansel compared to suspension cultivation. In conclusion, osmotic stress existed in the ACA microcapsules and affected the growth and metabolism of the cells.
Alginates ; metabolism ; Capsules ; metabolism ; Cell Culture Techniques ; methods ; Chitosan ; metabolism ; Osmosis ; physiology ; Osmotic Pressure ; Polylysine ; analogs & derivatives ; metabolism ; Saccharomyces cerevisiae ; growth & development ; metabolism ; Yeasts ; classification ; growth & development ; metabolism