Recently, with the development of techniques such as proteomics, the positive rate of com-mon tumor markers, such as carcinoembryonic antigen (CEA) and squamous cell carcinomatous antigen (Scc-Ag) has increased obviously. And some new tumor markers related to esophageal carcinoma (EC) have been detected, such as vascular endothelial growth factor, angiopoietin, Dickkopf21, tumor M2-PK and etc. Clinical trials are undergoing to estimate the value of these markers,which may change the current status of EC diagnosis and therapy.

Objective To explore the expression of DKK-1 and its clinical value in patients with e-sophageal cancer. Methods The levels of serum DKK-1 were measured by sandwich enzyme linked immu-nosorbent assay(ELISA) in 80 patients with esophageal squamous cell cancer and in 35 healthy subjects. The sensitivities of serum DKK-1, CEA and CYFRA21-1 in the patients with esophageal squamous cell cancer were calculated and analyzed to compare their values in diagnosis of esophageal cancer. Results The serum DKK- 1 levels in patients with esophageal squamous cell cancer were significantly higher than those of healthy subjects(P<0.05). According to the highest value of medicine reference of DKK- 1 (14. 54 ng/ml), its sensitivity and specificity were 66. 25% and 82. 86% respectively; There was a significant difference between the sensitivity of DKK-1 in patients with esophageal squamons cell cancer(66. 25%) and that in healthy subjects(17.14%) (P<0.05). The sensitivitis of serum DKK- 1 in patients with esophageal squamous cell cancer were associated with tumor size, TNM stage and lymph node metastasis(P <0.05),but not associated with gender,age and differentiation grade(P>0.05). And the sensitivity of DKK-1 (66. 25%) was significantly higher than that of CEA, CYFRA21-1 (39. 44% ,25. 35%, P <0. 01). Conclusion DKK-1 played a very important role in the growth and metastasis of esophageal cancer and may be a new tumor marker or an important index in the diagno-sis of esophageal cancer.

OBJECTIVE: To evaluate the clinical value of lidocain in the treatment of tinnitus through three routes of administration (intravenous, intratympanic and acupoint injection) by analyzing literatures. METHOD: Articles were collected through Hownet, Wanfang, VIP, Pubmed, SciVerse ScienceDirect, Springer and OVID, etc. The articles were strictly evaluated based on their quality. The Meta-analysis was performed to evaluate the outcomes by RevMan 5. 2 software. RESULT: A total of 16 articles with 1203 patients were enrolled in the analysis. Their tinnitus history ranged from 7 hours to 20 years. Assessment methods include tinnitus loudness levels, severity scales and subjective feelings. None of articles refer to maintaining time, instead of "short-term", "short" and so on. A total of 133 cases received intravenous injection and the effective rate was 73.4% (98 cases). 50 cases and 332 cases received intratympanic and acupoint injection respectively and their effective rates were 74.0% and 87.7%, respectively. The effective rate ranged from 42.4% to 58.3% in control group. Meta-analysis results indicate that all three routes of lidocaine administrations are more effective than conventional methods (P < 0.05). CONCLUSION Different routes of lidocaine administration have a good but short time effects on the tinnitus control. It can effectively reduce the time of tinnitus habituation as a complementary treatment. But its value still needs further evaluation.
Humans ; Lidocaine ; administration & dosage ; therapeutic use ; Tinnitus ; drug therapy

Recurrent intracerebral hemorrhage is a very serious cerebrovascular disease.Its incidence has shown a clear upward trend, and both disability and mortality have increased significantly compared to the first intracerebral hemorrhage. This article reviews the clinical classification, characteristics, risk factors, pathogenesis, and prognosis of recurrent intracerebral hemorrhage.

Objective:To investigate the efficacy and feasibility of mechanical thrombectomy (MT) via carotid artery salvage puncture in patients with acute anterior circulation large vessel occlusive stroke. Methods:A retrospective analysis was performed. Eight patients with acute anterior circulation large vessel occlusive stroke underwent MT via carotid artery salvage puncture in Departments of Neurology, First People's Hospital of Xianyang, Xi'an Ninth Hospital, Xi'an Daxing Hospital and XD Group Hospital from June 2021 to September 2023 were enrolled. Occlusion location, time from onset to femoral artery puncture, causes of carotid artery salvage puncture, time from femoral artery puncture to carotid artery salvage puncture, time from successful carotid artery puncture to vascular recanalization, modified thrombolysis in cerebral infarction (mTICI) score immediately after MT, and scores of National Institutes of Health Stroke Scale (NIHSS) 24 h after MT and modified Rankin Scale (mRS) 90 d after MT were analyzed. Results:Of the 8 patients, 7 had M1 segment occlusion and 1 patient had M2 segment occlusion. Direct thrombectomy was not possible resulting from type III aortic arch in 3 patients, aortic arch replacement in 1 patient, right common carotid artery twisting angle in 1 patient, left common carotid artery twisting angle in 2 patients, and bilateral femoral artery occlusion in 1 patient. All 8 patients had successful carotid artery puncture under local anesthesia, including 7 with mTICI 3 and 1 patient with mTICI 2b. Average time from successful carotid artery puncture to vascular recanalization was about 35 min, ranged 10-90 min. All patients had decreased NIHSS score 24 h after MT compared with before MT, and no complications such as hematoma or airway compression occurred in carotid artery puncture site. Six patients had mRS scores of 0-2 and 2 had scores of 6 (death cause: pulmonary infection) 90 d after surgery.Conclusion:For patients with patients with acute anterior circulation large vessel occlusive stroke, MT via carotid artery salvage puncture is a safe and feasible method in cases of difficulty in establishing thrombectomy route via femoral artery such as type III aortic arch, common carotid artery twisting angle, abdominal aorta occlusion.

Moyamoya disease is a chronic progressive cerebrovascular disease. Its disability rate and lethality rate are higher. The direct and indirect revascularization can increase cerebral blood flow and reduce the occurrence of cerebral ischemia and cerebral hemorrhage. This article reviews the pathophysiological basis of its surgical treatment, surgical timing, indications, surgical treatment methods and efficacy.

Objective To establish an inducible knockout mouse model of trafficking protein particle complex subunit 11 (Trappc11). Methods and results LoxP sites were introduced on both sides of exon 3-5 of Trappc11,and then the CRISPR/Cas9 technique was used to establish F0 C57BL/6J mice. The positive F0 generation mice were identified by polymerase chain reaction amplification and sequencing. After that,F0 positive mice were mated with C57BL/6J wild type mice to obtain F1 Trappc11flox/+mice. And then,Trappc11flox/+mice were mated with UBC-CreERT2 mice,and finally Trappc11 inducible systemic knockout mouse model was obtained after 2 generations. Conclusion The Trappc11 inducible knockout mouse model is established using CRISPR/Cas9 and Cre-loxP,providing an important tool for revealing the pathophysiological role of Trappc11 in multi-organ system diseases.

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

Objective To analyze the prognostic influencing factors of pulmonary adenocarcinoma with a micropapillary pattern (MPPAC).Methods A total of 109 MPPAC patients who received surgical operation in Shandong Cancer Hospital Affiliated to Shandong University from August 2012 to August 2015 were retrospectively analyzed.The median survival time and the survival rate of 1-,3-and 5-year were calculated by using Kaplan-Meier method,log-rank test was used for single-factor analysis and Cox regression analysis was used for multiple-factor analysis.Results The median overall survival time of 109 MPPAC patients was 55.0 months (3-67 months).The overall survival rate of 1-,3-and 5-year was 89.0％,61.5％,48.6％,respectively.Single factor analysis showed that the gender (x2 =7.208,P =0.007),the tumor size (x2 =24.083,P ＜ 0.01),lymph node metastasis (x2 =23.068,P ＜ 0.01),vascular tumor thrombosis (x2 =16.411,P ＜ 0.01),visceral pleural infiltration (x2 =18.438,P ＜ 0.01) and multiple tumors (x2 =28.563,P ＜0.01) were associated with the overall survival of MPPAC patients.Multiple factor analysis showed that the tumor size (RR =1.629,95％ CI 1.145-2.317,P =0.007),lymph node metastasis (RR =1.680,95％ CI 1.161-2.430,P =0.006) and vascular tumor thrombosis (RR =2.867,95％ CI 1.286-6.392,P =0.010) were the independent prognosis factors for MPPAC patients.Conclusion The MPPAC patients have a poor prognosis.The tumor size,lymph node metastasis and vascular tumor thrombosis could influence the prognosis of MPPAC patients.