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Objective:To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly.Methods:A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis.Results:In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene.Conclusions:CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.
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Cinnamomum migao plants often face different degrees of drought in karst habitats, which can lead to plants’ death, especially in the seedling stage. Widespread of arbuscular mycorrhizal (AM) fungi in karst soils have the potential to address this drought, which is a threat to C. migao seedlings. We inoculated C. migao seedlings with spores from Glomus lamellosum and Glomus etunicatum, two AM fungi widely distributed in karst soils, to observe seedling growth response after simulated drought. Our results showed that 40 g of G. lamellosum and G. etunicatum significantly promoted the growth of C. migao seedlings, 120 days after inoculation. Following a 15-day drought treatment, root colonization of the seedlings with G. lamellosum or G. etunicatum had lower the accumulation of malondialdehyde (MDA) and increased the accumulation of enzymes and osmotic substances in the seedlings. The relative water content in different organs (roots, stems, and leaves) of the drought-stressed seedlings was higher in plants with G. lamellosum or G. etunicatum than in plants without AM fungi colonization. Our results showed that inoculation with AM fungi was an effective means to improve the drought resistance of C. migao seedlings.
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Cinnamomum migao plants often face different degrees of drought in karst habitats, which can lead to plants’ death, especially in the seedling stage. Widespread of arbuscular mycorrhizal (AM) fungi in karst soils have the potential to address this drought, which is a threat to C. migao seedlings. We inoculated C. migao seedlings with spores from Glomus lamellosum and Glomus etunicatum, two AM fungi widely distributed in karst soils, to observe seedling growth response after simulated drought. Our results showed that 40 g of G. lamellosum and G. etunicatum significantly promoted the growth of C. migao seedlings, 120 days after inoculation. Following a 15-day drought treatment, root colonization of the seedlings with G. lamellosum or G. etunicatum had lower the accumulation of malondialdehyde (MDA) and increased the accumulation of enzymes and osmotic substances in the seedlings. The relative water content in different organs (roots, stems, and leaves) of the drought-stressed seedlings was higher in plants with G. lamellosum or G. etunicatum than in plants without AM fungi colonization. Our results showed that inoculation with AM fungi was an effective means to improve the drought resistance of C. migao seedlings.
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For resectable gastric cancer, although radical surgery is still the main treatment, methods of operation and the curative effect of operation are still in the stage of exploration for metastatic gastric cancer. Radiotherapy, chemotherapy and molecular targeted therapy also play an important role in prolonging the survival period of patients with gastric cancer. Postoperative radiotherapy and chemotherapy can prolong the survival time, but for patients with locally advanced gastric cancer, the preoperative radiotherapy and chemotherapy can also further improve the survival period of patients compared with direct operation. In addition, with the development and using of molecular targeted drugs, such as antiangiogenic agents, immunosuppressive drugs and so on, the survival period of patients with gastric cancer has been further extended.
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Humans , Antineoplastic Combined Chemotherapy Protocols , Gastrectomy , Neoadjuvant Therapy , Splenic Neoplasms , Stomach Neoplasms , Drug TherapyABSTRACT
Objective To investigate the diagnosis and treatment of sacral nerve dysfunction syndrome.Methods Accepted 44 cases of sacral nerve disorder syndrome from Oct.2010 to Oct.2012 in the Department General Surgery of Xiangyang Central Hospital,the diagnosis and treatment of sacral nerve dysfunction syndrome were retrospectively analyzed.Results All 44 patients in this group were founded been with lumbar protrusion of the intervertebral disc,the incidence of waist 4-5 or/and sacral 1 intervertebral disc herniation was 100％.Twentyone patients were complicated with vertebral degenerative changes,6 cases with spinal arachnoid cyst.metastatic cancer without treatment in 1 case was exception,13 cases were boarded during sleeping,12 cases were given dehydration treatment with mannitol,15 cases were given therapy of sacral canal nerve block,3 cases were treated by operation.All of these treatment were proved effective.Conclusion Some certain curative effect was obtained through the local physical therapy,systemic dehydration treatment,local nerve block treatment and opertion treatment.
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Survivin variants specific real time quantitative RT-PCR was developed to analyze their expression in 53 paired cancer and para-cancerous tissues, and the expression of the wild-type survivin protein was detected by immunohistochemistry. The results showed that survivin mRNA and protein were expressed in gastric cancer and para-cancerous tissues. The survivin-2B was dominantly expressed in para-cancerous tissues, whereas the survivin-△Ex3 was more frequently detected in cancer tissues. The positive rate of survivin-2a was 100% in both cancer and para-cancerous tissues,but its relative transcript expression level was not significantly increased in cancer tissues in comparison with para-cancerous tissues. The correlation analysis revealed that the expression of survivin-2a mRNA was significantly associated with that of total survivin (rs=0.4178, P=0.0018),whereas inversely to that of survivin-/EX3 (rs=-0.4506, P=0.0007). It was suggested that survivin-2a may act as an antagonist of survivin-△EX3. The balance between antiapoptotic survivin iso-forms and nonantiapoptotic ones may play an important role in tumorigenesis and tumor progression. Promising value is hinted to analyze survivin and its variants in tumor early diagnosis and distinguishing malignant tumors from benign ones.
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Survivin variants specific real time quantitative RT-PCR was developed to analyze their expression in 53 paired cancer and para-cancerous tissues, and the expression of the wild-type survivin protein was detected by immunohistochemistry. The results showed that survivin mRNA and protein were expressed in gastric cancer and para-cancerous tissues. The survivin-2B was dominantly expressed in para-cancerous tissues, whereas the survivin-DeltaEx3 was more frequently detected in cancer tissues. The positive rate of survivin-2a was 100% in both cancer and para-cancerous tissues, but its relative transcript expression level was not significantly increased in cancer tissues in comparison with para-cancerous tissues. The correlation analysis revealed that the expression of survivin-2a mRNA was significantly associated with that of total survivin (r (s)=0.4178, P=0.0018), whereas inversely to that of survivin-DeltaEX3 (r (s)=-0.4506, P=0.0007). It was suggested that survivin-2a may act as an antagonist of survivin-DeltaEX3. The balance between antiapoptotic survivin iso-forms and nonantiapoptotic ones may play an important role in tumorigenesis and tumor progression. Promising value is hinted to analyze survivin and its variants in tumor early diagnosis and distinguishing malignant tumors from benign ones.
Subject(s)
Microtubule-Associated Proteins/genetics , Microtubule-Associated Proteins/metabolism , Protein Isoforms/genetics , Protein Isoforms/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Stomach Neoplasms/metabolism , Stomach Neoplasms/pathology , Tumor Cells, Cultured , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolismABSTRACT
Objective To evaluate the clinical value of anastomate in treatment of rectal lesion. Methods The anastomate was used to resect space occupying lesion which was 5~12cm from anal.Then thwe operation procedure,operation time, recurrence complications and correlated problems were summarized.Results The average operation time was 34 minutes. Exceot for one case of anastomtic bleeding and one case of recurrence 14 months post operation.there were No other complications.Conclusions Stapling-resecting the rectal lesion was feasible,but some problems were solved from the design of anastomate.
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Objective To investigate the change of vascular endothelial growth factor (VEGF) expression in HepG2 cells under hypoxia. Methods HepG2 cells were cultured under hypoxia(hypoxia group) and normal condition (control group). VEGF expression of HepG2 cells was examined by immunohistochemical staining. The growth of HepG2 cells was examined by MTT colorimetry and cell count. VEGF level in the culture medium was measured by ELISA.Results After 48 h and 72 h of culture, the growth rate of HepG2 cells in hypoxia group was lower than that in control group (P
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A special medical device for the treatment of congenital megacolon is designed.This device is made of avirulent and high-intensity plastics.The resultant which formed by up and down curve arm detained lateral anus can spur the up and down leaf of the ring clamp device.Under the continuous pressurized condition,it can clamp the rectum and the downward pull-through colon,then the colon becames necrosis,so that the aim of confluence is achieved.This device is disposable.
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In order to investigate the changes of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) expression in residual hepatocellular carcinoma (HCC) after transcatheter arterial chemoembolization (TACE), the expression levels of VEGF and bFGF expression in specimens surgically removed from 48 HCC patients were detected by immunohistochemical methods, and staining intensity of VEGF and bFGF was assessed by a computer-assisted image-analyzer. Among the 48 patients, 25 underwent partial hepatectomy alone (single operating group), and 23 were subjected to second stage surgical resection after TACE (TACE group). The results showed that the average absorbance value (A) of VEGF was higher in TACE group than that in single operating group (0.152 +/- 0.021 vs 0.131 +/- 0.012, P < 0.01). The Average A of bF-GF in TACE group was 0.127 +/- 0.023, higher than in single operating group (0.111 +/- 0.016, P < 0.05). These results suggested that TACE of HCC can up-regulate the expression of VEGF and bFGF in HCC tissues possibly due to anoxia and ischemia.
Subject(s)
Aged , Female , Humans , Middle Aged , Antineoplastic Combined Chemotherapy Protocols , Carcinoma, Hepatocellular , Chemistry , Pathology , Therapeutics , Catheterization, Peripheral , Chemoembolization, Therapeutic , Cycloleucine , Fibroblast Growth Factor 2 , Fluorouracil , Liver Neoplasms , Chemistry , Pathology , Therapeutics , Mitomycin , Vascular Endothelial Growth Factor AABSTRACT
Objective To study the expression of integrin ?1 in hepatocellular carcinoma (HCC) and its significance. Methods Integrin ?1 expression was detected in 38 cases of HCC, 8 cases of hepatic cirrhosis (HC) and 7 cases of normal liver tissues(NL) using immunohistochemical SP method. The relationship between the integrin ?1 expression and HCC clinico-pathological features was analyzed. Results The positive rate of integrin ?1 expression in the HCC was much higher than that in the HC and NL tissues (P
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Objective To explore the expression of tenascin in hepatocellular carcinoma (HCC). Methods With the method of immunohistochemical staining, specimens from 42 HCC patients, 10 hepatic cirrhotics and 7 normal liver controls were studied. The relationship between the tenascin expression and pathological features as well as microvessel density (MVD) was evaluated. Results The expression of tenascin in the HCC tissues was much higher than that in the non-HCC tissues ( ? 2=4.15, P