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1.
Clin Chim Acta ; 561: 119812, 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38876250

ABSTRACT

GATM-related Fanconi renotubular syndrome 1 (FRTS1) is a form of renal Fanconi syndrome (RFS), which is a disorder of solute and water reabsorption caused by defects in the function of the entire proximal tubule. Recent findings reveal the molecular basis of FRTS1: Intramitochondrial fiber aggregation triggered by mutant GATM provides a starting point for proximal tubule damage and drives disease progression. As a rare and newly recognized inherited kidney disease, the complex manifestations of FRTS1 are easily underdiagnosed or misdiagnosed. We discuss the complex phenotype of a 26-year-old woman with onset in infancy and a long history of hypophosphatemic rickets. We also identified a novel heterozygous missense variant in the GATM gene in this patient. The novel variant and phenotype we report expand the disease spectrum of FRTS1. We recommend screening for GATM in children with RFS, especially in patients with resistant rickets who have previously had negative genetic testing. In addition, we found pathological deposition of mutant GATM proteins within mitochondria in the patient's urinary sediment cells by a combination of electron microscopy and immunofluorescence. This unique urine cytology experiment has the potential to be a valuable tool for identifying patients with RRTS1.

2.
Cancer Med ; 7(8): 3763-3772, 2018 08.
Article in English | MEDLINE | ID: mdl-30022623

ABSTRACT

CD164 was found to play a role in many malignant diseases. But the roles of CD164 in human bladder cancer have not yet been studied. The object of our study was to investigate the functions of CD164 in urothelial bladder carcinoma. The immunohistochemistry (IHC) was performed to evaluate the associations between the expression level of CD164 and clinical-pathological features of patients, and IHC was used to analyze the relationship between CD164 and CXCR4 in tumor tissues. Real-time qPCR and Western blot were used to measure the expression of relevant genes. The roles of CD164 in tumor cells and tissues were investigated by in vitro and in vivo experiments. The results of immunohistochemistry found that CD164 was associated with clinical and pathological features of patients. High level of CD164 was related to the distant metastasis and vascular invasion of bladder cancer patients. In vitro, by silencing of CD164, the proliferation, migration, and invasion of tumor cells were inhibited significantly by regulating related proteins such as Ki67, proliferating cell nuclear antigen, matrix metalloproteinases-2, and matrix metalloproteinases-9. In vivo, knocking-down of CD164 could reduce the growth and metastasis of tumors in mice. In addition, a co-expression was found between CD164 and CXCR4 in tumor tissues. In conclusion, our study demonstrated that CD164 was associated with the poor clinical outcomes of BC patients. Silencing of CD164 could inhibit the progression of tumors in vivo and in vitro, which may become an effective target in the treatment of bladder cancer.


Subject(s)
Biomarkers, Tumor , Endolyn/metabolism , Urinary Bladder Neoplasms/metabolism , Urinary Bladder Neoplasms/pathology , Aged , Aged, 80 and over , Animals , Cell Line, Tumor , Cell Movement , Cell Proliferation , Disease Models, Animal , Disease Progression , Endolyn/genetics , Female , Gene Knockdown Techniques , Gene Silencing , Heterografts , Humans , Immunohistochemistry , Male , Matrix Metalloproteinase 2/metabolism , Matrix Metalloproteinase 9/metabolism , Mice , Middle Aged , Neoplasm Metastasis , Neoplasm Staging , Prognosis , Receptors, CXCR4/genetics , Receptors, CXCR4/metabolism , Urinary Bladder Neoplasms/genetics , Urinary Bladder Neoplasms/mortality
3.
Oncotarget ; 8(31): 51869-51877, 2017 Aug 01.
Article in English | MEDLINE | ID: mdl-28881696

ABSTRACT

BACKGROUND: Chemotherapy has been associated with hyperalgesia. This prospective study was designed to investigate the effect of intraperitoneal chemotherapy with lobaplatin on post-operative pain intensity and sufentanil requirements after laparoscopic transabdominal resection of rectal cancer. METHODS: Eighty subjects (40 subjects treated with intraperitoneal chemotherapy and 40 subjects without chemotherapy treatment) scheduled for laparoscopic transabdominal resection of rectal cancer were included in this study. All subjects received standardized anesthetic and patient-controlled analgesia using sufentanil for 72 h post-surgery, as the only analgesics. Pain intensity scores, cumulative sufentanil requirements and side effects were recorded until 72 h post-surgery. RESULTS: Following intraperitoneal chemotherapy, patients had a significantly higher total post-operative sufentanil requirement (193 µg vs. 142 µg; P = 0.008), significantly higher verbal rating scale post-surgery pain intensity scores at rest and with coughing (P < 0.05), and a significantly worse functional activity score (P < 0.05) over 72 h, compared with those without intraperitoneal chemotherapy. There were no post-operative differences in the incidence of side-effects (post-operative nausea [P = 0.189], vomiting [P = 0.311], pruritus [P = 0.263], respiratory depression [P = 1.000], and dizziness [P = 0.712]) between the two groups. CONCLUSION: Intraperitoneal chemotherapy is associated with significantly increased post-operative sufentanil requirements and pain intensity, suggesting chemotherapy-associated hyperalgesia.

4.
Onco Targets Ther ; 10: 2561-2567, 2017.
Article in English | MEDLINE | ID: mdl-28546760

ABSTRACT

BACKGROUND: Permanent prostate brachytherapy (PPB) is an effective treatment choice for low and intermediate risk prostate cancer (PCa). However, the impact of PPB on tumor immune status is still poorly understood. This study aimed to assess the immune status in PCa patients before and at different time points after PPB (1, 3, 6, and 12 months). METHODS: Blood was collected from 32 patients with low and intermediate risk PCa and 12 healthy volunteers. The frequency of immunocompetent cells was identified by flow cytometry. The concentration of immunoglobulins and complements was detected by ELISA. RESULTS: Various immunocompetent cells were dysregulated in PCa patients compared with healthy volunteers. Peripheral serum prostate-specific antigen (PSA) decreased rapidly at the first month after PPB treatment, and the peripheral serum PSA became very low at 6 months after PPB treatment. CD3+ T cells, CD4+ T cells, CD3-CD16+/56+ natural killer (NK) cells were increased significantly at certain time points after PPB. Although the percentage of the CD8+ T cells did not change markedly, the ratio of CD4/CD8 increased significantly at 3 months after PPB (P=0.0196). There was no influence of PPB on B cells number, but the concentration of immunoglobulins IgM, IgG, and IgA, and complements C3 and C4 in patients increased at some time points after PPB. CONCLUSION: The immunocompetent cells are dysregulated in PCa patients. PPB treatment could effectively kill tumor cells and then stimulate cellular immunity and humoral immunity in PCa patients.

5.
Am J Transl Res ; 8(7): 3056-66, 2016.
Article in English | MEDLINE | ID: mdl-27508026

ABSTRACT

Previous studies indicate that microRNA-122 (miR-122) is down-regulated in several cancer cells and regulates cell apoptosis, proliferation, metastasis, and tumor angiogenesis. However, the mount of miR-122 in bladder cancer and the pivotal molecular mechanisms of miR-122 used to regulate bladder carcinogenesis and angiogenesis remain to be clarified. Here, we reveal that miR-122 expression is down-regulated in human bladder cancer tissues and cell lines. MiR-122 represses vascular endothelial growth factor C (VEGFC) post-transcriptional expression by directly binding to its 3'-UTR. The protein kinase B (AKT) and mammalian target of rapamycin (mTOR), which are the most important downstream molecules of VEGFC, are also decreased in bladder cancer cell after miR-122 overexpression. Furthermore, miR-122 over-expression decreases bladder cancer cell migration, invasion, colony formation in vitro and slow bladder cancer growth and angiogenesis in vivo. Finally, miR-122 sensitizes bladder cancer cells to cisplatin-induced apoptosis. Taken together, these studies suggest that miR-122 serves as a tumor suppressor and down-regulating VEGFC expression, leading to the inhibition of bladder cancer growth and angiogenesis.

6.
Guang Pu Xue Yu Guang Pu Fen Xi ; 33(9): 2403-6, 2013 Sep.
Article in Chinese | MEDLINE | ID: mdl-24369640

ABSTRACT

Onion soluble solids content (SSC) was detected using near-infrared (924-1720 nm) reflectance spectra. Three cultivars of onions, harvested at different period, were selected for experiment and the total number of samples is 268. SSC reference value of onion juice was determined using the temperature compensated refractometer. Some pre-processing methods, such as S-G smoothing, scatter correction, and derivation, were compared to establish a statistical model based on partial least squares regression (PLSR) method. The results show that the avitzky-Golay smoothing with window 32 and span 10 is more efficient. The determination correlation coefficient of prediction R2 is 0.87 and root mean square error (RMSEP) is 2.42 degrees Brix. Compared to the 2nd derivation, the 1st derivation got better prediction result, but the spectra scatter correction is the best (R2 = 0.88, RMSEP of = 2.31 degrees Brix). The optimal prediction (R2 = 0.90, RMSEP = 1.84 degrees Brix and RPD = 3) was built based on crossing validation modeling, which shows that infrared reflectance spectroscopy with scatter correction pre-processing is feasible for onions soluble solids detection.


Subject(s)
Onions , Spectroscopy, Near-Infrared , Least-Squares Analysis , Models, Statistical , Refractometry , Regression Analysis
7.
Article in Chinese | MEDLINE | ID: mdl-23595302

ABSTRACT

OBJECTIVE: To investigate the difference in urinary proteome between patients with bladder urothelial carcinoma (BUC) and healthy volunteers and to provide a basis for the early diagnosis of BUC. METHODS: The urine samples from BUC patients and healthy volunteers (controls) were treated by 25% ethanol precipitation and two-dimensional gel electrophoresis (2-DE), and the obtained urinary proteins were subjected to Coomassie brilliant blue staining and analysis by PDQuest 8.0 (2-DE image analysis software); the differentially expressed proteins were sequenced by matrix-assisted laser desorption/ionization time-of-flight/time-of-flight mass spectrometry and identified using the Swiss-Prot database; the differential expression of these proteins was verified by western blot. RESULTS: High-resolution and high-reproducibility 2-DE images were obtained from the urine samples of BUC patients and controls, with 789 ± 18 and 762 ± 14 protein spots, respectively. Compared with the control group, the BUC grouP had significantly decreased expression of 6 protein spots and significantly increased expression of 11 protein spots. The mass spectrometry revealed five proteins with increased expression in the BUC group, including fibrinogen, lactate dehydrogenase B, apolipoprotein A1, clusterin, and haptoglobin, and the results were confirmed by western blot. CONCLUSION: There is significant difference in urinary proteome between BUC patients and healthy volunteers; the identification of differentially expressed proteins in urine lays the foundation for identifying potential molecular markers in early diagnosis of BUC.


Subject(s)
Proteomics/methods , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/urine , Aged , Case-Control Studies , Early Detection of Cancer , Female , Humans , Male , Middle Aged
8.
Article in Chinese | MEDLINE | ID: mdl-23595303

ABSTRACT

OBJECTIVE: To investigate the significance of apolipoprotein (Apo)-A1 in urine as a biomarker for early diagnosis and classification of bladder urothelial carcinoma (BUC). METHODS: Urine samples were divided into four groups: normal control group, benign bladder disease group, low-grade malignant BUC group, and high-grade malignant BUC group. Apo-A1, which showed significantly different expression among the four groups, was selected according to the two-dimensional electrophoresis (2-DE) images of the four groups, and enzyme-linked immunosorbent assay (ELISA) was used to quantify Apo-A1 in the four groups. A receiver operating characteristic (ROC) curve was generated, and the optimal operating points on the ROC curve were found to determine the critical concentrations of Apo-A1 for early diagnosis of BUC and differentiation of low-grade and high-grade malignant BUC. The results were verified clinically, and the specificity and sensitivity were calculated. RESULTS: The 2-DE images showed that that the level of Apo-A1 increased from the normal control grouP to high-grade malignant BUC group. The ELISA showed that there was no significant difference in Apo-A1 level between the normal control grouP and benign bladder disease group, but the Apo-A1 level was significantly higher in the BUC groups than in the normal control grouP and benign bladder disease grouP (P < 0.01); the high-grade BUC grouP had a significantly higher Apo-A1 level than the low-grade BUC grouP (P < 0.01). The BUC patients and those without BUC could be differentiated with an Apo-A1 concentration of 18.22 ng/ml, while the low-grade and high-grade malignant BUC could be differentiated with an Apo-A1 concentration of 29.86 ng/ml. When used as a biomarker, Apo-A1 had a sensitivity of 91.6% (98/107) and a specificity of 85.7% (42/49) for diagnosis of BUC and had a sensitivity of 83.7% (41/49) and a specificity of 89.7% (52/58) for BUC classification. CONCLUSION: Apo-A1 may be a biomarker for early diagnosis and classification of BUC and shows promise for clinical application.


Subject(s)
Apolipoprotein A-I/urine , Urinary Bladder Neoplasms/diagnosis , Aged , Early Detection of Cancer , Female , Humans , Male , Middle Aged , Urinary Bladder Neoplasms/urine
9.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 28(6): 618-22, 2012 Jun.
Article in Chinese | MEDLINE | ID: mdl-22691354

ABSTRACT

AIM: To screen monoclonal antibodies to amylin from a constructed human phage antibody library and identify their antigenic specificity and combining activities. METHODS: The heavy chain Fd fragment and light chain of human immunoglobulin genes were amplified from peripheral blood lymphocytes of healthy donors using RT-PCR, and then inserted into phagemid pComb3XSS to generate a human phage antibody library. The insertion of light chain or heavy chain Fd genes were identified by PCR after the digestion of Sac I, Xba I, Xho Iand Spe I. One of positive clones was analyzed by DNA sequencing. The specific anti-amylin clones were screened from antibody library against human amylin antigens and then the positive clones were determined by Phage-ELISA analysis. RESULTS: A Fab phage antibody library with 0.8×10(8); members was constructed with the efficacy of about 70%. DNA sequence analysis indicated V(H); gene belonged to V(H);3 gene family and V(λ); gene belonged to the V(λ); gene family. Using human amylin as panning antigen, specific anti-amylin Fab antibodies were enriched by screening the library for three times. Phage-ELISA assay showed the positive clones had very good specificity to amylin antigen. CONCLUSION: The successful construction of a phage antibody library and the identification of anti-amylin Fab antibodies provide a basis for further study and preparation of human anti-amylin antibodies.


Subject(s)
Antibodies, Monoclonal/immunology , Islet Amyloid Polypeptide/immunology , Peptide Library , Base Sequence , Enzyme-Linked Immunosorbent Assay , Humans , Immunoglobulin Fragments/genetics , Immunoglobulin Light Chains/genetics , Molecular Sequence Data
10.
Urol Int ; 88(3): 350-7, 2012.
Article in English | MEDLINE | ID: mdl-22433386

ABSTRACT

OBJECTIVE: A sensitive mutation detection method called co-amplification at lower denaturation temperature-polymerase chain reaction (COLD-PCR) was applied to improve the detection frequencies of expressive mutations in the H-ras gene, including exons 1 and 2, in a group of Chinese patients diagnosed with bladder cancer. MATERIALS AND METHODS: The expressive mutations in the H-ras gene in 86 fresh tissues of human bladder cancer were identified by COLD-PCR or conventional PCR, followed by direct sequencing. RESULTS: A high frequency of silent mutations of 29.1% (25 of 86) in exon 1 (c.81T>C, H27H) and activating mutations of 8.1% (7 of 86) were detected by COLD-PCR, yielding a 36% improvement in mutation detection compared with conventional PCR. No significant association was shown between activating mutations and clinicopathologic parameters, but the frequencies of silent mutations in recurrent tumors were higher than those in primary tumors (p = 0.034). CONCLUSIONS: COLD-PCR is a highly sensitive, reliable, and convenient clinical assay for mutation detection. The adoption of the method is straightforward and requires no additional reagents or instruments. Silent mutations might be important genomic alterations in bladder cancer, and play a role in bladder cancer recurrence.


Subject(s)
Biomarkers, Tumor/genetics , DNA Mutational Analysis/methods , Mutation , Polymerase Chain Reaction/methods , Proto-Oncogene Proteins p21(ras)/genetics , Urinary Bladder Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Base Sequence , Chi-Square Distribution , China , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Molecular Sequence Data , Phenotype , Reverse Transcriptase Polymerase Chain Reaction , Sensitivity and Specificity , Urinary Bladder Neoplasms/pathology
11.
J Cardiothorac Vasc Anesth ; 26(2): 270-3, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22000988

ABSTRACT

OBJECTIVE: The use of fast-track general anesthesia in patients undergoing nonrobotically assisted and totally thoracoscopic cardiac surgeries has not been previously reported previously. DESIGN: A prospective clinical study. SETTING: A university hospital. PARTICIPANTS: Ninety-six patients (41 males; mean age, 13.2 ± 6.2 years; range, 5-47 years). INTERVENTION: Nonrobotically assisted totally thoracoscopic surgeries were performed for atrial (n = 58) or ventricular septal defect (n = 32), tetralogy of Fallot (n = 2), left atrial myxoma (n = 3), and pulmonary valve stenosis (n = 1). Fast-track general anesthesia was induced with midazolam, propofol, fentanyl, and vecuronium and was maintained with remifentanil and sevoflurane. Cardiopulmonary bypass was established peripherally through the femoral vein and artery. MEASUREMENTS AND MAIN RESULTS: All surgeries were successful. There were no perioperative mortality or major complications. The mean cardiopulmonary bypass and aortic cross-clamp times were 42 ± 21 minutes and 33 ± 8 minutes, respectively. In 82 cases, the heart regained beats automatically after the release of the aortic cross-clamp, whereas in 14 patients external defibrillation was required. Extubation was conducted in 32 patients (33.3%) in the operating room 15 minutes after the operation. The mean times of mechanical ventilation and stay in the intensive care unit were 1.5 ± 0.2 hours and 20.1 ±1.2 hours, respectively. CONCLUSIONS: Cardiopulmonary bypass for totally thoracoscopic cardiac surgery can be established through the femoral artery and femoral vein. With fast-track anesthesia, early extubation in the operating room can be achieved in more than one third of patients.


Subject(s)
Anesthesia, General/methods , Cardiopulmonary Bypass/methods , Thoracoscopy/methods , Adolescent , Adult , Anesthesia, General/instrumentation , Cardiac Surgical Procedures/instrumentation , Cardiac Surgical Procedures/methods , Cardiopulmonary Bypass/instrumentation , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Prospective Studies , Thoracoscopy/instrumentation , Young Adult
12.
Article in Chinese | MEDLINE | ID: mdl-21845874

ABSTRACT

OBJECTIVE: To explor the changes of serum proteomics in rabbits superior mesenteric artery occlusion (SMAO) shock as well as its possible effect in SMAO shock. METHODS: SMAO shock model in rabbits were induced by occlusion of the superior mesenteric artery, serum samples were obtained from rabbits before and after SMAO shock, proteins in samples were separated by two-dimensional electrophoresis(2-DE), spots in the 2-DE map were detected and evaluated by PDQuest software 8.0. The spots with different expression level were subjected to matrix assisted laser desorption/ionization-time of flight-time of flight-mass spectrometry (MALDI-TOF-TOF-MS) for identification, the protein database was searched to further characterized the differential proteins. RESULTS: 19 differential protein spots were screened out in the 2-DE maps, 11 proteins were up-regulated and 8 proteins were down-regulated in SMAO shock rabbits' s serum. 4 of the 19 differential protein spots were selected for MALDI-TOF-TOF-MS study, and 2 of the 4 differential protein spots were identified satisfactoryly as paraoxonase and haptoglobin, which content were increased in rabbits' s serum after SMAO shock. CONCLUSION: Serum proteomics of rabbit change remarkablely before and after SMAO shock, paraoxonase and haptoglobin may be associated with the compensation after SMAO shock.


Subject(s)
Arterial Occlusive Diseases/blood , Blood Proteins/metabolism , Mesenteric Artery, Superior/pathology , Shock/blood , Animals , Arterial Occlusive Diseases/complications , Aryldialkylphosphatase/metabolism , Female , Haptoglobins/metabolism , Male , Proteome/metabolism , Proteomics/methods , Rabbits , Shock/etiology
15.
Zhonghua Bing Li Xue Za Zhi ; 37(4): 238-42, 2008 Apr.
Article in Chinese | MEDLINE | ID: mdl-18844032

ABSTRACT

OBJECTIVE: To study the expression of KiSS-1, nuclear factor kappa B (NF-kappaB) p50 and matrix metalloproteinase 9 (MMP-9) in breast cancer tissue and the relationship with clinicpathological factors. METHODS: Immunohistochemical staining for KiSS-1, NF-KappaBp50, and MMP-9 protein was performed in 152 cases of human breast tissue [92 cases of BC, 30 cases of epithelial hyperplasia, and 30 cases of peritumoral breast tissue (PMT)] and 54 cases of axillary lymph node metastases. In-situ hybridization for KiSS-1 mRNA was done in 50 cases of breast cancer, and 20 cases of PMT. RESULTS: (1) The expression of KiSS-1 gene was significantly higher in well-differentiated breast cancer than in PMT, and this expression progressively decreased with decreasing degree of tumor differentiation, increasing pathological grade, TNM stage and the presence of lymph node metastases. The expression of KiSS-1 gene in lymph node metastasis was markedly lower than the corresponding primary tumor. There was correlation between the expression of KiSS-1 mRNA and KiSS-1 protein in breast cancer group. (2) The expression of NF-kappaKBp50 and MMP-9 increased progressively with decreasing degree of tumor differentiation, increasing TNM stage, large tumor size ( >2 cm) and the presence of lymph node metastases. CONCLUSIONS: The expression of KiSS-1 protein showed negative correlation with that of NF-kappaBp50 and MMP-9 respectively. MMP-9 protein expression was positively correlated with NF-kappap50 protein expression. These suggest that the genes of KiSS-1, NF-kappaBp50 and MMP-9 could be involved in the progression and metastasis of breast cancer.


Subject(s)
Breast Neoplasms/metabolism , Matrix Metalloproteinase 9/metabolism , NF-kappa B/metabolism , RNA, Messenger/metabolism , Tumor Suppressor Proteins/metabolism , Breast Neoplasms/pathology , Female , Gene Expression Regulation, Neoplastic , Humans , Kisspeptins , Lymphatic Metastasis/physiopathology , Matrix Metalloproteinase 9/genetics , NF-kappa B/genetics , Statistics as Topic , Tumor Suppressor Proteins/genetics
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