Adult case of partial trisomy 9q

Background: \ud Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment.\ud \ud Case Presentation: \ud The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support.\ud \ud Conclusions: \ud Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9

Maternal and fetal mortality and complication s associated with cesarean section deliveries in teaching hospitals

AIM: To compare the mortality, morbidity of emergency and elective cesarean section with vaginal delivery among Asian teaching hospitals METHODS: Hospital based prospective study at 12 centers of 9 countries. RESULTS: 12 591 vaginal deliveries, 3062 elective and 4328 emergency cesarean section were followed up to 5 days postpartum. Maternal deaths (95% CI) per 1000 births among vaginal deliveries being 0.47 (0.17, 1.03) was not significantly different from 0.31 (0.01, 1.73) of elective cesarean section and both rates were significantly lower than 2.87 (1.53, 4.91) per 1000 births of emergency section. The vaginal delivery group had significantly lower incidences of all major complication except significantly higher chance of secondary operations and non-significantly different risk for endometritis. Corresponding neonatal mortality per 1000 deliveries among the three groups were 7 (5.6, 8.6), 2.2 (0.9, 4.6) and 12.4 (9.3, 16.2) (P < 0.001). Vaginal delivery also had higher rates of severe asphyxia and palsy than elective cesarean section. CONCLUSION: Maternal complications were increased by cesarean delivery but elective section may reduce neonatal complication.Virasakdi Chongsuvivatwong... Tran Son Thach... et al