Intraocular pressure in infants and its association with hormonal changes with vaginal birth versus cesarean section.

To investigate cord arterial blood sample and the relationship between birth stress and intraocular pressure in infants at 5 min after delivery. The IOP measurements were taken using Tonopen-Avia tonometer to 158 newborns (158 eyes) at 5th min after birth, in a university hospital. Cord blood was collected within 3 min after delivery. Intraocular pressure, gender, gestation period, mode of delivery, and birth weight of newborns were noted from medical records. Sixty-two babies were delivered by normal vaginal delivery (NVD) and 96 by cesarian section (C/S). Mean IOP of NVD and C/S groups were 19.56 ± 3.84 and 17.42 ± 3.50, respectively. There was significant difference of mean IOP between two groups. (p < 0.001) There were significant differences between two groups regarding APGAR score (p < 0.001) and cord blood adrenaline (p = 0.003), noradrenaline (p = 0.008), and cortisol (p < 0.001) levels. There was no difference between infant corneal thickness measurements (p = 0.698). In correlation analyses, there is a strong negative correlation between the labor type and postpartum measurements except corneal thickness. Correlation analyses of the 5th min intraocular pressure of the groups individually revealed significant correlation in the NVD group. The conclusion is that the intraocular pressure of newborn infants was higher in NVD delivery compare to C/S. Blood hormonal changes in different anesthesia types and physical stress was thought as the main reason of this result.

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP, and requires the allosteric activator N-acetyl-L-glutamate. Clinical mutations occur in the entire CPS1 coding region, but mainly in single families, with little recurrence. We characterized here the only currently known recurrent CPS1 mutation, p.Val1013del, found in eleven unrelated patients of Turkish descent using recombinant His-tagged wild type or mutant CPS1 expressed in baculovirus/insect cell system. The global CPS1 reaction and the ATPase and ATP synthesis partial reactions that reflect, respectively, the bicarbonate and the carbamate phosphorylation steps, were assayed. We found that CPS1 wild type and V1013del mutant showed comparable expression levels and purity but the mutant CPS1 exhibited no significant residual activities. In the CPS1 structural model, V1013 belongs to a highly hydrophobic ß-strand at the middle of the central ß-sheet of the A subdomain of the carbamate phosphorylation domain and is close to the predicted carbamate tunnel that links both phosphorylation sites. Haplotype studies suggested that p.Val1013del is a founder mutation. In conclusion, the mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble. Recurrence of this particular mutation in Turkish patients is likely due to a founder effect, which is consistent with the frequent consanguinity observed in the affected population.