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OBJECTIVE@#To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum.@*METHODS@#A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#WES revealed that the child has harbored a heterozygous c.607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6).@*CONCLUSION@#The heterozygous c.607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.
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Humans , Child , Exons , Computational Biology , Genetic Testing , Genomics , MutationABSTRACT
MicroRNA-495 (miR-495) is abnormally expressed in many tumors,especially in glioma.It involves in the proliferation,apoptosis,cycle regulation,metabolism,invasion and metastasis of tumor cells by regulating cyclin-dependent kinase 6 signaling pathway,glucose transporter type 1 signaling pathway,MYB signaling pathway,growth factor-independent 1 signaling pathway and high-mobility group nucleosome-binding domain 5 signaling pathway.Further study of miRNA-495 might provide a novel direction for clarifying the pathogenesis,diagnosis and treatment of glioma.
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Objective To compare the efficacy and safety of paroxetine alone and combined with folic acid in patients complaining of premature ejaculation ,and measured the 5-hydroxyptamine(5-HT ) concentration in two groups before and after treatment and compared the differences .Methods 126 cases of PE were included from department of Urology of 363 Hospital of Chengdu .Subjects were randomly divided into 2 groups ,group A were given paroxetine hydrochloride 20 mg/d ,group B were given paroxetine hydrochloride 20 mg/d and fo-lic acid 0 .4 mg/d ,study duration was 8 weeks .Blood sample got from the candidates both in screening period and after 8 weeks of treatment .The efficiency after treatment was measured by IELT and PEP ,the plasma 5-HT level was measured too .SPSS16 .0 statistical analysis was used .Results After treatment ,IELT of group A and group B was improved from 1 .21 ,1 .18 min to 8 .04 ,9 .42 min .The improvement of average IELT in group B was significantly higher than that in group A ,the difference was statistically significant (P＜0 .05) ;The PEP score and 5-HT level in group B were significantly higher than that in group A ,the difference was statistically significant (P＜0 .05) .Conclusion Paroxetine combined with folic acid in the treatment of primary premature ejaculation has a significant effect ,compared to paroxetine alone .The average plasma level of 5-HT increased significantly ,and folic acid could assist paroxetine in elevating plasma levels of 5-HT and improving primary premature ejaculation symptoms .
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Objective To investigate whether the excessive production of reactive oxygen species (ROS) in the mitochondria of the rostral ventrolateral medulla (RVLM) can inhibit the high salt-induced hypertension response.Methods A total off 32 male rats were divided into two groups:two groups were given normal salt diet (0.3％ NaCl) for 8 weeks (n=16) and high salt diet (8％ NaCl) for 8 weeks (n=16,induced hypertension model) respectively.The two groups were divided into four groups,two groups were given α-lipoic dissolving in 0.9％ normal saline (60 mg/kg),two groups were fed with saline for 9 weeks.There were ffour groups:the experimental group (n=8,the hypertension model sample fed α-lipoic acid),the model group (n=8,the hypertension model sample fed saline),the control group (n=8,normal salt diet sample fed α-lipoic acid) and the blank control group (n=8,normal salt diet sample ffed saline).Monitored the change of the arterial pressure and detected the expression off superoxide by immunofluorescence at the end of the experiment,measured the expression of NAD(P)H NOX2,NOX4 and Cu/Zn-SOD in RVLM by Western blot;determined the expression differences of oxidative stress related substances such as mitochondrial malondialdehyde(MDA)in RVLM by ELISA.Results The mean arterial pressure (MAP) in the experimental group was lower than that in the model group,the difference was statistically significant (P＜0.05);in the experimental group and the model group the intensities of fluorescent-labled dihydroethidium(DHE) were 60.2±3.1,99.1±3.8;the numbers of positive neurons in Cu/Zn-SOD were 20.8±1.1,6.9 ± 1.2;the numbers of NOX2 positive neurons were 12.3 ± 3.5,25.1 ±5.4;the numbers of NOX4 positive neurons were 10.1±2.2,13.3±4.1,the difference was statistically significant (P＜0.05).Western blot showed that the NOX2 levels of the experimental group and the model group were 78.9 ± 2.0,112.7 ± 3.8;the levels of NOX4 were 63.2± 2.1,99.4 ± 1.7.The levels of Cu/Zn-SOD in RVLM of the experimental group and the model group were 19.7 ±1.6,10.3± 1.2,the difference was statistically significant (P＜0.05);the levels of mitochondrial superoxide dismutase (SOD) were (33.1±3.8),(15.2±1.7)U/mg,the difference was statistically significant (P＜0.05).The levels of mitochondrial glutathione (GSH) in the experimental group and the model group were (5.2±0.9),(2.3±0.5)μmol/g;the levels of norepinephrine (NE) were (325.8 ± 7.3),(467.9 ± 6.1) pg/mL,the difference was statistically significant (P＜0.05).Conclusion α-lipoic acid could decrease the expression of NOX2,NOX4 and the bioenergy of mitochondria enzyme,and increase the intracellular antioxidant ability in the RVLM during the development of hypertension to inhibit the oxidative stress response in the development of hypertension.
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Glioma is a common malignant tumor of nervous system.Many genes of SOX family are closely related to the genesis and development of glioma,among which SOX2,SOX4,SOX7,SOX9 gene are all abnormal in glioma.SOX2 gene is highly expressed in glioma and has positive correlation with the malignant grade of glioma.SOX2 gene coordinates with many factors and promotes the genesis and development of glioma.SOX4 gene plays as both a oncogene and a tumor suppressor gene in brain glioma,and can regulate a variety of factors.SOX7,as a tumor suppressor gene,shows low expression in glioma,and suppresses the genesis of brain glioma by regulating the related factors and signaling pathways.SOX9 gene is highly expressed in glioma tissues,and promotes tumorigenesis and metastasis of glioma by coordinating with a variety of factors,and can be used as an important risk factor for the prognosis of glioma patients.
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Glioma is a common malignant tumor of nervous system.Many genes of SOX family are closely related to the genesis and development of glioma,among which SOX2,SOX4,SOX7,SOX9 gene are all abnormal in glioma.SOX2 gene is highly expressed in glioma and has positive correlation with the malignant grade of glioma.SOX2 gene coordinates with many factors and promotes the genesis and development of glioma.SOX4 gene plays as both a oncogene and a tumor suppressor gene in brain glioma,and can regulate a variety of factors.SOX7,as a tumor suppressor gene,shows low expression in glioma,and suppresses the genesis of brain glioma by regulating the related factors and signaling pathways.SOX9 gene is highly expressed in glioma tissues,and promotes tumorigenesis and metastasis of glioma by coordinating with a variety of factors,and can be used as an important risk factor for the prognosis of glioma patients.
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Objective To explore the clinical features of hepatolenticular degeneration (HLD) with hemolytic anemia as the first manifestation, and its relationship with ichthyosis.Method The clinical manifestations, course, diagnosis, and treatment of HLD combined with ichthyosis in one child who presented with hemolytic anemia as the ifrst manifestation, were retrospectively analyzed.Results In ten-year-old girl, the ifrst symptom was fatigue and jaundice, and then progressed to abdominal distension 5 days after admission. The reticulocyte percentage was 8.5%. Coombs test was negative. The K-F rings appeared on the cornea. The CT scan of Abdomen showed pleural and peritoneal effusion, abnormal substance deposition in liver and splenomegaly. There were mutations inATP7B andTGM1 genes, both of which were located on fourteenth of chromosomes. The diagnosis of HLD combined with ichthyosis was conifrmed. After symptomatic and supportive treatments such as removal of copper, prevention of the copper absorption and supplement of vitamin A, the disease was brought to remission.Conclusion HLD with hemolytic anemia as the ifrst manifestation, combined with ichthyosis was extremely rare.
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Objective To explore the optimal condition for the differentiation of rat bone marrow mesenchymal stem cells (MSCs) into cardiomyocyte-like cells in vitro. Methods The MSCs were purified by percoll mediated density gradient centrifugation, and then randomly divided into A, B and C groups treated with 5, 10, 20 ?mol/L 5-azacytidine, respectively. MSCs in each group were treated with 5-azacytidine for 12, 24 and 48 h, and then cultured for 28 d before examination. The morphological changes in MSCs were observed with inverted microscope. The expression of ?-actin and cTnT was determined by immunohistochemistry and the protein expression of cTnT was determined by Western blotting. Results At day 28 after induction with 5-azacytidine, scattered myogenic structure was observed in the plasma of MSC under electronic microscope. Positive expression of ?-actin and cTnT were detected with immunohistochemistry. As compared with 10 ?mol/L (48 h) and 20 ?mol/L (12, 24 and 48 h) subgroups, there was no significant difference in the expression of cardiac troponin T among 5 ?mol/L (48 h) and 10 ?mol/L (24 h) groups without effect on the biological characteristics. Conclusion MSCs could be differentiated into cardiomyocyte-like cells by 5-azacytidine in vitro. Induction with 5 ?mol/L 5-azacytidine for 48 h or 10 ?mol/L of 5-azacytidine for 24 h is the optimal condition for the differentiation of MSCs into cardiomyocyte-like cells in vitro.