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OBJECTIVE@#To explore the genetic etiology for a child featuring mental retardation, language delay and autism.@*METHODS@#G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents.@*RESULTS@#The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants.@*CONCLUSION@#The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
Assuntos
Humanos , Criança , Gravidez , Feminino , Deficiência Intelectual/genética , Diagnóstico Pré-Natal , Cariotipagem , Bandeamento Cromossômico , Deleção CromossômicaRESUMO
We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.
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OBJECTIVE:To establish the pharmacokinetic-pharmacodynamic(PK-PD) model of Nisoldipine controlled-release patches(NCRP)in spontaneously hypertensive rats(SHR). METHODS:SHR were randomized into a patch(NCRP)group and a tablet(Nisoldipine tablets)group,with 6 rats in each group. The microdialysis probes were implanted in SHR. Each rat was given 5 mg nisoldipine. Plasma microdialysate was collected within 36 h after administration. HPLC was adopted to determine the plasma concentration of nisoldipine,and WinNonlin 5.3 was employed to calculate Pharmacokinetic parameters. With heart rate and blood pressure as pharmacodynamic indexes,PK-PD model study was conducted. RESULTS:Vs. nisoldipine tablets,NCRP has con-trolled release effect. The relationship between NCRP drug effect and effect-site concentration met the Sigmoid-Emax model. The main parameters of the PK-PD model for heart rate and systolic blood pressure were as follows as Emax of (2.65 ± 0.06) and (10.71 ± 0.87),EC50 of (83.65 ± 35.25) and (1.29 ± 0.26) ng/ml,γ of (0.83 ± 0.91) and (1.2 ± 0.35),Keo of (0.37 ± 0.53) and (0.91±0.24)h-1. CONCLUSIONS:PK-PD model of NCRP in SHR has been established successfully.
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Background and purpose:This study investigated the relationship between (S100 calcium-binding protein A4, S100A4) in chronic gastritis, intestinal metaplasia, dysplasia adenomatous, normal tissue tissue samples and expression in gastric cancer and clinical characteristics. Methods:HE staining of the use of gastric specimens taken for histopathological diagnosis;using immunohistochemistry to detect the expression of tissue S100A4 protein;qRT-PCR was used to detect mRNA expression of S100A4 gene;Western Blot detection of S100A4 gene encoding protein. Kaplan-Meier survival curves were used to distinguish and compare survival. Results:S100A4 protein and mRNA expression gradually increased in the following order:normal tissue