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Drug-resistance and adverse reaction in the treatment of lung cancer patients are still a difficult problem in modern medicine. Studies have indicated that the abundance, diversity and metabolites of intestinal and pulmonary microbiota can be used to assist in the early diagnosis and monitoring the prognosis of lung cancer. Meanwhile, as combined modality therapies, intestinal microbiota combined with chemotherapy, immunotherapy and targeted therapy can enhance therapeutic effect and reduce adverse reaction. Microbiota exhibits an extensive application prospect in the diagnosis and treatment of lung cancer.
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Objective To detect the expression of TRIM24 in uroepithelium cell carcinoma of bladder(BUCC)and analyze the relationship be?tween its expression and clinical pathological factors. Methods Immunohistochemical methods were employed to evaluate protein level of TRIM24 in BUCC. Results TRIM24 expression was observed in the nuclear compartments of tumor cells,while normal epithelia of bladder tissues exhibited negative results. For 72 BUCC tissues,TRIM24 overexpression(score≥4)was observed in 41.6%of cases(30/72). TRIM24 expression correlat?ed with invasive depth(P=0.029)and patients with high TRIM24 expression had high grade of BUCC(P=0.043). Conclusion There was sig?nificant over expression of TRIM24 in BUCC,which was correlated with poor differentiation and high grade of BUCC. It may become a candidate tar?get gene for the treatment of human uroepithelium cell carcinoma of bladder.
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To review the scientific evidence of system management for lung cancer patients with cancer- related fatigue by the method of literature review and evaluate researchers on authenticity, importance and applicability, in order to improve the nursing quality and the quality of life of them. Interventions of lung cancer patients with cancer- related fatigue mainly includes: non- drug intervention, drug intervention and self- management. The use of intervention measures should be combined with the situation of the patients. however, many of the effectiveness of the intervention measures not sure, need large sample randomized controlled trial verifies the results .
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<p><b>OBJECTIVE</b>To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.</p><p><b>METHODS</b>Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.</p><p><b>CONCLUSION</b>Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.</p>
Subject(s)
Child , Female , Humans , Male , Young Adult , Alcohol Oxidoreductases , Genetics , Base Sequence , Brain , Diagnostic Imaging , Brain Diseases, Metabolic, Inborn , Diagnostic Imaging , Genetics , Molecular Sequence Data , Mutation , Pedigree , RadiographyABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).</p><p><b>METHODS</b>Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out.</p><p><b>RESULTS</b>The probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD).</p><p><b>CONCLUSION</b>The primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.</p>
Subject(s)
Female , Humans , Infant , Male , Acetyl-CoA C-Acetyltransferase , Genetics , Acetyl-CoA C-Acyltransferase , Genetics , Amino Acid Metabolism, Inborn Errors , Genetics , Computational Biology , Mutation , PhenotypeABSTRACT
Objective To systematically evaluate the effectiveness of intermittent nasogastric feeding on enteral nutrition of critical patients. Methods The relevant randomized controlled trials were searched in the Cochrane Library, PubMed, EMbase, Web of Science, JBI Library and the databases of China National Knowledge Infrastructure (CNKI), China Scientific Journal Database by VIP (VIP), Wanfang Database. The studies were selected according to the inclusion and exclusion criteria by two reviewers. Meta- analysis was conducted by using RevMan 5.2. Results Nine RCTs were included involving 558 patients. The results of meta- analysis showed that intermittent nasogastric feeding was greater than continuous pump feeding in the incidence of constipation, OR=0.32, 95%CI 0.14~0.71, P0.05). Conclusions Intermittent nasogastric feeding and continuous pump feeding did not affect the incidence of diarrhea, aspiration pneumonia, gastric residuals, vomiting, abdominal distension and the effects of nutrition. However, the incidence of constipation was significantly less in patients receiving intermittent nasogastric feeding.
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<p><b>OBJECTIVE</b>To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.</p><p><b>METHODS</b>The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>The patient has featured failure to thrive, lethargy, seizure, hypotonia, severe ketoacidosis and hyperammonemia. Tandem mass results showed reduction of multiple acylcarnitine. Urine organic acid testing showed pronounced increase in methylmalonate excretion. Homocysteine was normal. The patient showed no response to vitamin B12 treatment. The above results suggested that the patient had isolated methylmalonic acidemia. DNA sequencing analysis confirmed that the patient has carried two MUT gene mutations, c.755dupA and a novel mutation c.944dupT.</p><p><b>CONCLUSION</b>Inherited metabolic disease screening plays an important role in the diagnosis of clinical diseases. However, to confirm the results will need gene mutation analysis.</p>
Subject(s)
Female , Humans , Infant, Newborn , Amino Acid Metabolism, Inborn Errors , Genetics , Base Sequence , Methylmalonyl-CoA Mutase , Genetics , Molecular Sequence Data , MutationABSTRACT
Objective To investigate the circadian and seasonal distribution of cardiovascular events (CVE) and the relationship between average monthly temperature and the incidence of CVE. Methods A total of 5837 emergency patients with CVE were enrolled from 1997 to 2007. The exact admission time of each patient was registered. The average monthly temperature data from a regional weather station for this time period was supplied by the meteorological office of the city. The relationship between the average monthly temperature and the incidence of CVE was explored and the corresponding curves were plotted. Results The occurrence of CVE has obvious seasonal variation, and its a higher tendency of episodes was found in spring and winter periods. High incidence of acute myocardial infarction, angina pectoris, acute left-sided heart failure, hypertensive crisis, and sudden death occurred in spring and winter as wee as the time for a change of season, that is, January, February, March, April, October, November, and December. There was a significant negative correlation between the incidence and the average monthly temperature (P<0.005-0.001). Circadian rhythm of CVE was present, with a peak in the early morning and forenoon. Conclusion There are circadian and circannian rhythms of the incidence of CVE. Cold weather condition is a risk factor for the occurrence of CVE, which usually peaks in the early morning and forenoon.
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<p><b>BACKGROUND</b>So-called pulmonary sclerosing hemangioma (PSH) is a rare kind of pulmonary tumor. Its histological origin and nature, which have become research hot spots for many years, are still uncertain. The aim of this study is to investigate the immunophenotype of cuboidal cells and polygonal cells through observing the expression of E-cadherin, β-catenin and p120ctn in cuboidal cells and polygonal cells of PSH.</p><p><b>METHODS</b>Expression of E-cadherin, β-catenin and p120 ctn was detected in 25 cases of PSH samples and 8 cases of pulmonary inflammatory pseudotumor samples by immunohistochemistry.</p><p><b>RESULTS</b>Immunohistochemistry results showed that the surface cuboidal cells of PSH were strongly positive on membrane for E-cadherin, β-catenin and p120 ctn , with cytoplasmic positive expression of β-catenin. However,the polygonal cells were negative for E-cadherin, cytoplasmic positive for β-catenin and predominantly cytoplasmic positive and weakly membranous positive for p120ctn . In polygonal cells, all the three adhesion molecules showed heterogenicity staining. The cytoplasm and membrane of inner covering cells in the hemorrhagic pattern were positively stained for E-cadherin, β-catenin and p120ctn . The expression of the three adhesion molecules in hyperplastic type II alveolar cells of pulmonary inflammatory pseudotumor was similar to cuboidal cells of PSH.</p><p><b>CONCLUSIONS</b>It is concluded that cuboidal cells of PSH may be the hyperplastic type II alveolar cells, whereas polygonal cells are true tumor cells lacking the E-cadherin/catenin complex which is expressed in well differentiated epithelial cells. The inner covering cells in the hemorrhagic pattern of PSH are perhaps epithelial cells as cuboidal cells rather than vascular endothelial cells.</p>
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<p><b>BACKGROUND</b>So-called pulmonary sclerosing hemangioma (PSH) is an uncommon tumor of the lung and its histogenesis and origin are uncertain to date. A general consensus appears to have been reached that PSH is a benign neoplasm, but a few PSHs are found to invade and metastasize. The expression of p53 protein and mutation of p53 gene are significant parameters which can reflect biological behavior of tumor cells. The aim of this study is to investigate the p53 protein expression and p53 gene mutation in PSH, and explore their significance.</p><p><b>METHODS</b>The expression of p53 protein and mutation of p53 gene were examined in polygonal cells and cuboidal cells of PSH by immunohistochemical method, laser capture microdissection (LCM), single-stranded conformation polymorphism (SSCP) and DNA sequencing.</p><p><b>RESULTS</b>The positive rate of p53 protein was 21.1% (4/19) and the mutation rate of p53 gene was 26.3% (5/19) by SSCP and 42.1% (8/19) by DNA sequencing respectively. In 4 cases of immunopositive PSH tissues, 2 were missense mutations, and 1 was both missense and frameshift mutation. Out of 15 cases of immunonegative PSH tissues, 4 were frameshift mutations and 1 was missense mutation. Of 8 PSH tissues with p53 gene mutation, 5 were identified in only polygonal cells, and 2 in only cuboidal cells and 1 in both polygonal and cuboidal cells.</p><p><b>CONCLUSIONS</b>The expression of p53 protein may not be indicative of p53 gene mutation in PSH. The alteration of p53 gene and the expression of p53 protein are identified in both polygonal and cuboidal cells. The high mutation rate of p53 gene may indicate that PSH has potentially malignant biological behavior.</p>
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Objective To investigate the influence of treatment with milkvetch root and red sage root injections on changes in blood viscosity and renal function in patients with early diabetic nephropathy(EDN).Methods 160 patients with EDN were randomly divided into two groups.The control group (n=80) was treated with conventional therapy for diabetes,and the treatment group (n=80) was treated with milkvetch root injection combined with red sage root injection based on conventional therapy for 4 weeks.Results After the above-mentioned therapy the parameters of blood viscosity were significantly decreased(P