Acute Disease ; Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; Humans ; Infant ; Inpatients ; Insecticides ; poisoning ; Middle Aged ; Organophosphorus Compounds ; Pesticides ; poisoning ; Poisoning ; etiology ; mortality ; therapy ; Risk Factors ; Survival Rate

OBJECTIVETo study diagnosis and differential diagnosis of Kallmann syndrome.

METHODSThe examinations including routine karyotyping, sex hormone, GnRH stimulation test and MRI were performed.

RESULTSCytogenetic analysis of his peripheral lymphocyte by G banding showed a normal male karyotype. GnRH stimulation test presented a good reaction. Plasma levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone were very low. Absent olfactory bulb was found by magnetic resonance imaging (MRI).

CONCLUSIONKaryotype analysis, sexual hormone, GnRH stimulation test and MRI are very important the diagnosis of Kallmann syndrome.

Adult ; Diagnosis, Differential ; Follicle Stimulating Hormone ; blood ; Gonadotropin-Releasing Hormone ; analysis ; Humans ; Kallmann Syndrome ; diagnosis ; Karyotyping ; Luteinizing Hormone ; blood ; Magnetic Resonance Imaging ; Male

OBJECTIVETo verify the clinical efficacy of Chinese drugs for benefiting-qi, activating-blood, dissolving phlegm and removing-toxin (CDs) Combined with Conventional Treatment on post-operative vascular restenosis in patients with diabetic lower extremity arterial disease (DLEAD) underwent percutaneous transluminal angioplasty (PTA).

METHODSFifty-six DLEAD patients underwent PTA of below-knee artery were assigned to the treatment group (32 patients) treated by basic therapy combined with CDs and the control group (24 patients) treated by basic therapy only. The changes in symptoms and signs, ankle/brachial index (ABI) and transcutaneous oxygen pressure (TCPO2) of affected limb, and blood flow (BF) in operated vessels checked with color Doppler examination were monitored and analyzed with SPSS software 16. 0.

RESULTSOverall effectiveness, including symptom score, ABI, TCPO2 and BF in patients after operation were all better in both groups significantly (P < 0.05), the improvements began to reveal in 3-6 months, and be stabilized in the treatment group, but declined gradually in the control group after then. So, the effective rate in the treatment group became significantly higher than that in the control group (75.00% vs. 41.67%, P < 0.01) at the end of the 6th month, meanwhile levels of ABI (0.65 +/- 0.12), TCPO2 (68.00 +/- 4.21 mm Hg), and BF (35.00 +/- 2.11 cm/s) in the former were better than those in the control group, respectively (0.44 +/- 0.12, 41.00 +/- 2.02 mm Hg and 21.00 +/- 1.85 cm/s, P < 0.05).

CONCLUSIONCDs shows definite effect in post-PTA prevention of vascular restenosis in DLEAD patients.

Aged ; Aged, 80 and over ; Angioplasty ; Arterial Occlusive Diseases ; drug therapy ; therapy ; Diabetes Mellitus, Type 2 ; physiopathology ; Diabetic Angiopathies ; drug therapy ; physiopathology ; therapy ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Lower Extremity ; blood supply ; Male ; Middle Aged ; Phytotherapy ; Secondary Prevention

Objective:To investigate the expression of replication factor C5 (RFC5) in cervical cancer, and its effect on the prognosis and immune regulation as well as its related mechanism.Methods:RFC5 mRNA expression data and the clinical data of 280 cervical cancer patients were downloaded from the Cancer Genome Atlas (TCGA) database in May 2023. The difference of RFC5 mRNA expression between cervical cancer tissues and paracancerous normal tissues was compared and the expression of RFC5 mRNA in patients with different clinicopathological characteristics was analyzed. According to the median expression level of RFC5 mRNA in cancer tissues, 280 patients were divided into the high expression group and the low expression group. Kaplan-Meier method was used for survival analysis, and log-rank test was used for comparison. Gene Expression Profiling Interactive Analysis (GEPIA) 2 online tool was used to verify the relationship between RFC5 gene expression and the prognosis of cervical cancer. Univariate and multivariate Cox proportional risk models were used to analyze the factors influencing the overall survival (OS) of patients with cervival cancer in TCGA database. LinkedOmics database was used to screen the co-differentially expressed genes (DEG) related to RFC5 in cervical cancer. Gene Ontology (GO) and Kyoto Encyclopedia of Genesand Genomes (KEGG) pathway enrichment analysis of DEG related to RFC5 were performed based on the DAVID database. Based on the Tumor Immune Estimation Resource (TIMER) database, the relationship between RFC5 expression and tumor infiltrating immune cells in cervival cancer was analyzed by using Spearman method. The relationship between RFC5 expression and immunomodulatory factors in cervical cancer was analyzed based on tumor-immune system interactions database (TISIDB). The expression of RFC5 protein in cervical cancer tissues was analyzed based on Human Protein Atlas (HPA) database. The expression of RFC5 in pan-cancer and its correlation with OS were analyzed based on GEPIA2 online tool.Results:In TCGA database, the relative expression level of RFC5 mRNA in cervical cancer tissues (277 cases) was higher than that in paracancerous normal tissues (3 cases), and the difference was statistically significant ( P < 0.001), while there were no significant differences in the relative expression level of RFC5 mRNA in cancer tissues of patients with different age, pathological type and clinical staging (all P > 0.05). The OS of cervival cancer patients in high RFC5 expression group (139 cases) was better than that of patients in low RFC5 expression group (138 cases), and the difference was statistically significant ( P = 0.027). GEPIA tool verification indicated that expression of RFC5 in cervical cancer and its relationship with OS showed the same results. GO and KEGG enrichment analysis showed that RFC5-related genes were mainly involved in DNA replication, cell cycle, Fanconi anemia, mismatch repair, base excision repair, nucleotide excision repair and other signaling pathways. Multivariate Cox regression analysis showed that age ≥ 65 years, clinical staging Ⅳ and the low expression of RFC5 were independent risk factors of poor OS in patients with cervical cancer (all P < 0.05). TIMER database analysis showed that the expression of RFC5 was positively correlated with tumor purity ( rho = 0.198, P < 0.001), while weakly correlated or not correlated with the infiltration levels of B cells ( rho = 0.062, P = 0.306), CD8 + T cells ( rho = 0.168, P = 0.005), CD4 + T cells ( rho = -0.049, P = 0.418), macrophages ( rho = 0.034, P = 0.577), neutrophils ( rho = 0.169, P = 0.005) and bone marrow dendritic cells ( rho = 0.026, P = 0.667). Analysis of TISIDB data showed that RFC5 expression was mostly negatively correlated with immunosuppressive factors and immunostimulatory factors. HPA database showed that the expression level of RFC5 in cervical cancer tissues was higher than that in normal cervical tissues. GEPIA online tool database analysis showed that RFC5 expression was up-regulated in a variety of malignant tumors. The OS of thymoma patients with high RFC5 expression was better than that of those with low RFC5 expression, while the OS of acute myeloid leukemia patients with high RFC5 expression was worse than those with low RFC5 expression, and the differences in OS were statistically significant (both P < 0.05). Conclusions:RFC5 is highly expressed in cervical cancer and its expression is associated with prognosis of patients with cervival cancer. Overexpression of RFC5 may inhibit the expression of immunomodulatory factors, and it may regulate the development and progression of cervical cancer through DNA replication, cell cycle, mismatch repair, base excision repair and other related pathways.

OBJECTIVETo evaluate the significance of determining ascitic bacterial 16S rRNA by quantitative PCR combined with microarray (PCR-microarray) in the diagnosis of spontaneous bacterial peritonitis (SBP).

METHODSAscitic bacterial 16SrRNA was determined by real time fluorescent quantitative PCR-microarray in 76 cases of suspected SBP and 6 cases of non-infectious ascites with chronic liver diseases. The results were compared with ascitic bacterial culture simultaneously.

RESULTSOf 76 ascitic samples, 17 were detected bacteria positive by PCR-microarray, including 8 Grams positive(G+) and 9 Grams negative(G-), which was higher than that by bacterial culture which had only 6 ascitic samples detected positive (all G-); the positive rates were 22.4% vs 7.9%, respectively (P < 0.01). The bacterial strains detected by both methods in 6 cases had a consistency with each other. No bacteria were detected in another 6 cases of non-infectious ascites with chronic liver diseases.

CONCLUSIONSDetermination of ascitic bacteria 16S rRNA by PCR-microarray has a higher specificity and sensitivity in the diagnosis of SBP as compared with the bacteria culture. Application of this novel method can not only accelerate SBP diagnosis but also stratify the different pathogens.

Adult ; Aged ; Ascitic Fluid ; microbiology ; Bacterial Infections ; diagnosis ; microbiology ; Female ; Humans ; Liver Cirrhosis ; diagnosis ; microbiology ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Peritonitis ; diagnosis ; microbiology ; Polymerase Chain Reaction ; methods ; RNA, Bacterial ; isolation & purification ; RNA, Ribosomal, 16S ; isolation & purification

In order to explore the transfection and expression of hRI gene on human umbilical blood stem cells, and observe it's effect on the tumor growth. After enriching human umbilical cord blood CD34+ cells with a high-gradient magnetic cell sorting system (MACS), transfected them with supernatant of retrovirus containing human Ribonuclease inhibitor (hRI) cDNA. Hematopoietic progenitor clonogenic assay and PCR were used to evaluate transfection efficiency, and Western-blot and immune fluorescence were used to evaluate the expression quantity of hRI gene after transfection. Observe the effect of RI on the growth of melonoma in B16C57BL mice. The results showed that human umbilical blood CD34+ cells were highly purified by MACS, which made the purity of human umbilical blood CD34+ cells average 96.15%. hRI can be transfected on umbilical blood CD34+ cells, and the transfection efficiency was 35%. The positive expression of hRI gene on transfected CD34+ cells is identified by Western-blot and immune fluorescence assay. Mice injected with transfected CD34+ cells show a significant restraint of the tumor growth, a lower efficiency of tumor formation, a lower weight of the tumor and a longer incubation period of tumor formation with respect to the control groups. The results demonstrated the capacity of RI to inhibited the tumor growth by blocking the vasculature in tumor.
Animals ; Antigens, CD34 ; metabolism ; Cell Proliferation ; drug effects ; Fetal Blood ; cytology ; Genetic Therapy ; Hematopoietic Stem Cells ; metabolism ; Humans ; Melanoma ; pathology ; therapy ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins ; biosynthesis ; genetics ; Transfection ; Tumor Cells, Cultured

Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.

Objective To study the effect of Kangdaxin on cardiac function in rats with cardio-renal syndrome, and to explore its protective mechanism based on ASK1-JNK/p 38 pathway. Methods Sixty SD rats were divided into sham group, heart failure group (HF group) , cardio-renal syndrome group (CRS group) , heart failure interventiongroup and cardio-renal syndrome intervention group. The sham group, heart failure group, cardio-renal syndrome group were given normal saline, the heart failure intervention group, and the cardio-renal syndrome intervention group were given 2. 7 m L·kg-1·d-1 Kangdaxin oral solution. Left ventricular shortening fraction and left ventricular ejection fraction were measured by cardiac ultrasound after modeling or treatment; heart weight/body weight (Hw/W) and left ventricular weight/body weight (LVw/W) were calculated after sacrifice of the rats. The gene and protein expression levels of ASK1, JNK and p38 in heart tissue of each group were detected by real-time quantitative polymerase chain reaction (q PCR) and immunob-lotting. The myocardial cells of each group were detected by flow cytometry.Results The left ventricular fraction, left ventricular ejection fraction, Hw/W and LVw/W in sham group were (31. 17 ± 2. 15) ％, (61. 08 ± 3. 45) ％, (3. 43 ± 0. 31) mg·g-1 and (2. 50 ± 0. 27) mg·g-1; the above indicators in heart failure group were (24. 42 ± 1. 98) ％, (42. 08 ± 4. 57) ％, (4. 10 ± 0. 21) mg · g-1, (2. 89 ± 0. 26) mg·g-1, the above indicators in cardio-renal syndrome group were (18. 50 ± 2. 84) ％, (38. 25 ± 3. 96) ％, (4. 84 ± 0. 32) mg·g-1, (3. 89 ± 0. 18) mg·g-1, compared with the sham operation group, all differences were statistically significant (all P < 0. 05) . The left ventricular shortening scores of heart failure intervention group and cardio-renal syndrome inte-rvention group were (27. 33 ± 3. 14) ％, (22. 67 ± 2. 66) ％, and the left ventricular ejection fraction were (50. 00 ± 3. 70) ％, (43. 83 ± 3. 78) ％, LVw/W were (2. 60 ± 0. 25) , (3. 63 ± 0. 22) mg·g-1.The differences between the heart failure group and the cardio-renal syndrome group were all statistically significant (all P < 0. 05) . The expressions of ASK1, JNK and p38 mRNA and protein in heart tissue of heart failure group and cardio-renal syndrome group were significantly lower than those in sham operation group (all P < 0. 05) .The apoptotic rate of cardiomyocytes in heart failure group and cardio-renal syndrome group were (24. 14 ± 5. 51) ％, (35. 60 ± 8. 75) ％, which was significantly higher than that in sham operation group (7. 87 ± 3. 13) ％ (all P < 0. 05) . The apoptotic rate of cardiomyocytes in heart failure intervention group and cardio-renal syndrome intervention group were (14. 12 ± 5. 98) ％, (26. 50 ± 7. 22) ％, compared with heart failure group and cardio-renal syndrome group, the differences were all statistically significant (all P < 0. 05) .Conclusion Kangdaxin oral solution has cardioprotective effect on cardio-renal syndrome rats which can inhibit the expressions of ASK1, JNK and p38 mRNA and protein in heart tissue, inhibit ASK1-JNK/p38 signaling pathway and decrease myocardial cell apoptosis.