RESUMEN
The zinc finger transcription factor GATA4, located on chromosome 8p23.1-p22, has been implicated as a critical regulator of cardiac development during embryogenesis. Mutations of GATA4 appear to be responsible for some cardiac septal defects. The aim of this work was to screen for mutations in the GATA4 gene in sample of Egyptian patients affected by isolated and non-isolated cardiac septal defects. We examined 20 patients with atrial septal defect (ASD), ventricle septal defect (VSD), atrioventricular septal defects (AVSD) and A-V canal disturbance defect and compared with examined 10 unaffected individuals as normal control. The patients were referred from Congenital Heart Disease Clinic of the Clinical Genetics department at the National Research Centre. All patients were subjected to clinical evaluation, echocardiography and karyotyping. Genomic DNA was extracted from all cases and subjected to PCR followed by direct sequencing. The predicted effect of variants was done by a variety of proper prediction tools. We detected six variants in GATA4 gene, two of them are novel variants. Predicted functional analysis of the relevant variants was performed by In silico analysis. Further confirmatory studies on familial segregation and in vitro / in vivo functional analysis are recommended to support our results.
Asunto(s)
Factor de Transcripción GATA4/genética , Defectos de los Tabiques Cardíacos/genética , Mutación , Estudios de Casos y Controles , Niño , Preescolar , Análisis Mutacional de ADN , Egipto/epidemiología , Femenino , Variación Genética , Defectos de los Tabiques Cardíacos/epidemiología , Humanos , Lactante , Masculino , Modelos Moleculares , Conformación de Ácido Nucleico , Estudios Prospectivos , ARN Mensajero/química , ARN Mensajero/genéticaRESUMEN
Fifty pulmonary tuberculous patients (minimal; moderate and far-advanced), 18 TB-healed persons and 15 healthy control subjects were examined for plasma levels of adrenaline (AD), noradrenaline (NA), dopamine (DA), ACTH and cortisol. The estimated hormones were found to be increased significantly with the severity of the disease suggesting that the stress of infection plays a role in induction of enzymes responsible for catecholamines synthesis with subsequent stimulation of ACTH and cortisol secretion. Noradrenaline appeared the most effective in this respect.
Asunto(s)
Catecolaminas/sangre , Tuberculosis Pulmonar/sangre , Hormona Adrenocorticotrópica/sangre , Humanos , Hidrocortisona/sangreRESUMEN
The relationship of mast cells to tumor growth has been debated but not elucidated. The existence of a mast cell-free animal, the W/Wv mouse, provides a model in which tumor metastasis can be studied with special reference to host tissues and their mast cell content rather than to the adhesiveness of the tumor cell itself. Both hind footpads of 30 W/Wv mice and 30 control mice (+/+) were injected with 2 X 10(5) cells of B16-F10 melanoma cells. The left paw received 1000 rads orthovoltage radiation 12 hr before tumor inoculation. Growth of tumors in both paws was recorded. Ten animals from each group were killed on Day 31 after tumor inoculation, and the remaining animals were kept until they died. Autopsy was performed in all animals, and patterns of metastasis were recorded. Results showed that (1) preinoculation radiation significantly slowed tumor growth in the left paw (P = 0.0009), and (2) lung metastases were present in 4 of 10 W/Wv mice, but in none of 10 +/+ mice killed after 31 days (P = 0.05). Overall, 17 of 25 W/Wv mice and 8 of 26 +/+ mice had lung metastases (P = 0.008).