Trisomy 9 syndrome in a neonate with unusual features

Aim of the Work: To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included.Methods: Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed.Results: Multiple congenital anomalies including craniofacial features, centralnervous, cardiovascular, skeletal, gastric and urogenital systems becauseof chromosomal abnormality which indicated: 47, XY, inv (9) (p12;q13) + inv(9) (p12;q13) mat. Conclusion: Our case could be a new case of apparently complete trisomy 9syndrome with unusual findings.Key Words: Trisomy 9, congenital anomalies, karyotype, FIS

The juice of fresh leaves of Catharanthus roseus Linn. reduces blood glucose in normal and alloxan diabetic rabbits

BACKGROUND: The leaf juice or water decoction of Catharanthus roseus L. (Apocyanaceae) is used as a folk medicine for the treatment of diabetes all over the world. In the present investigation, the leaf juice of C. roseus has been evaluated for its hypoglycemic activity in normal and alloxan-induced diabetic rabbits. METHODS: The blood glucose lowering activity of the leaf juice was studied in normal and alloxan-induced (100 mg/kg, i.v.) diabetic rabbits, after oral administration at doses of 0.5, 0.75 and 1.0 ml/kg body weight. Blood samples were collected from the marginal ear vein before and also at 4, 6, 8, 10, 12, 16, 18, 20 & 24 h after drug administration and blood glucose was analyzed by Nelson-Somogyi's method using a visible spectrophotometer. The data was compared statistically by using Student's t-test. RESULTS: The leaf juice of C. roseus produced dose-dependent reduction in blood glucose of both normal and diabetic rabbits and comparable with that of the standard drug, glibenclamide. The results indicate a prolonged action in reduction of blood glucose by C. roseus and the mode of action of the active compound(s) of C. roseus is probably mediated through enhance secretion of insulin from the β-cells of Langerhans or through extrapancreatic mechanism. CONCLUSIONS: The present study clearly indicated a significant antidiabetic activity with the leaf juice of Catharanthus roseus and supports the traditional usage of the fresh leaves by Ayurvedic physicians for the control of diabetes

Consanguinity and reproductive health among Arabs

Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity

The selenium jevels of mothers and their neonates using hair, breast milk, meconium, and maternal and umbilical cord blood in van basin

The objective of the present study is to calculate linear regressions between a mother and her child with respect to their selenium concentration (ng/g) in the following traits: maternal blood and umbilical cord blood, maternal and child hair, maternal milk and child umbilical cord blood, maternal milk and meconium, maternal blood plasma, and child meconium. The data were collected at Research Hospital of the University of Yüzüncü Yıl from 30 pairs of mothers and their newborn baby. The mean maternal serum Se level in 30 mothers was 68.52 ± 3.57 ng/g and cord plasma level was 119.90 ± 18.08 ng/g. The Se concentration in maternal and neonatal hair was 330.84 ± 39.03 and 1,124.76 ± 186.84 ng/g, respectively. The Se concentration of maternal milk at day 14 after delivery was determined as 68.63 ± 7.78 ng/g (n = 13) and the concentration of Se was 418.90 ± 45.49 ng/g (n = 22) for meconium of neonatal. There was no significant difference between maternal blood and milk Se levels. However, hair Se concentration was significantly higher than milk and maternal blood Se level. For each trait comparison, the average absolute difference in log10-transformed Se concentration was calculated between a mother and her child. The observed average absolute difference was compared with a test distribution of 1,000 resampled bootstrap averages where the number of samples was maintained but the relationship between a mother and her child was randomized among samples (α = 0.05).H. Sağmanlıgil Özdemir, F. Karadas, A. C. Pappas, P. Cassey, G. Oto and O. Tunce