Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.
Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.
Here we report two cases of first-trimester parvovirus B19 CASE REPORTS Case 1A 32-year-old primigravida was referred to our unit after routine ultrasound examination revealed increased fetal nuchal translucency (NT) at 13 + 1 weeks' gestation. A detailed sonographic evaluation demonstrated an NT of 4.4 mm, biventricular myocardial hypertrophy, moderate skin edema, mild ascites and bilateral pleural effusion. The ductus venosus (DV) blood flow was normal (positive awave, pulsatility index for veins (PIV): 1.56) 1 . However, the measurement of the fetal middle cerebral artery peak systolic velocity (MCA-PSV) showed an increased velocity of 37 cm/s, suggestive of fetal anemia (Figure 1). Maternal parvovirus (PV) infection was diagnosed by determining PV-specific immunoglobulin-G (IgG) and IgM as well as PV-B19 DNA by polymerase chain reaction (PCR). Fetal karyotype was normal. Subsequently, fetal therapy by cordocentesis was offered. The placenta was located laterally. Because of the softness of the 25-G spinal needle and an inability to correct the intrauterine position, three attempts were needed to place the needle next to the umbilical cord insertion site. No paralyzing agent was used. The umbilical vein was then punctured in one attempt and 3 mL of packed red cells were transfused. The initial hemoglobin count was 0.8 g/dL. No bradycardia was observed during the procedure, which took about 2 minutes.After 2 days, decline of the MCA-PSV and complete resolution of the fetal hydrops were observed. Ultrasound and Doppler examinations were continued for a period of 10 weeks at 3-week intervals. Measurements of MCA-PSV continued to show velocities in the upper percentile range, but no additional signs of fetal anemia were detected. However, at 24 + 5 weeks' gestation the fetus presented again with severe hydrops fetalis and cardiomegaly. The measurement of MCA-PSV showed an increased velocity of 85 cm/s. Cordocentesis and intrauterine blood transfusion were performed. The initial hemoglobin count was 1.4 g/dL (reticulocytes 13.2%, thrombocytes 22/nL). PCR for PV-B19 DNA was positive in maternal blood as well as in fetal ascites and blood. Two further intrauterine blood transfusions followed (at 25 + 3 and 26 + 2 weeks' gestation) (Table 1) and finally
Background: For healthy women entering birth after uneventful pregnancy, midwife-led models of care have the potential to reduce interventions and increase the vaginal birth rate. In Germany, 98.4% of women are giving birth in consultant-led obstetric units. Alongside midwifery units (AMU) have been established in 2003. We compared the outcome of women registered for planned birth in the AMU at our hospital with a matched group of low-risk women who gave birth in standard obstetric care during the same period of time. Methods: We used a retrospective cohort study design. The study group consisted of all women admitted to labor ward who had registered for birth in AMU from 2010 to 2017. For the control group, low-risk women were selected; additionally, matching was performed for parity. Mode of birth was chosen as primary outcome parameter for the mother. For the neonate, a composite primary outcome (5-min Apgar < 7 or umbilical cord arterial pH < 7.10 or transfer to specialist neonatal care) was defined. Secondary outcomes included epidural anesthesia, duration of the second stage of labor, episiotomy, obstetric injury, and postpartum hemorrhage. Non-inferiority was assessed, and multiple logistic regression analysis was performed. Results: Six hundred twelve women were admitted for labor in AMU, the control group consisted of 612 women giving birth in standard obstetric care. Women in the study group were on average older and had a higher body mass index (BMI); birthweight was on average 95 g higher. Non-inferiority could be established for the primary outcome parameters. Epidural anesthesia and episiotomy rates were lower, and the mean duration of the second stage of labor was shorter in the study group; second-degree perineal tears were less common, higher-order obstetric lacerations occurred more frequently. Overall, 50.3% of women were transferred to standard obstetric care. Regression analysis revealed effects of parity, age and birthweight on the chance of transfer.
Background For healthy women entering birth after uneventful pregnancy, midwife-led models of care have the potential to reduce interventions and increase the vaginal birth rate. In Germany, 98.4% of women are giving birth in consultant-led obstetric units. Alongside midwifery units (AMU) have been established in 2003. We compared the maternal and perinatal outcome of women registered for planned birth in the AMU at our hospital with a matched group of low-risk women who gave birth in standard obstetric care during the same period of time. Methods We used a retrospective cohort study design. The study group consisted of all women admitted to labor ward who had registered for birth in AMU from 2010 to 2017. For the control group, low-risk women were selected; additionally, matching was performed for parity. Mode of birth was chosen as primary outcome parameter for the mother. For the neonate, a composite primary outcome (5-minute Apgar <7 or umbilical cord arterial pH < 7.10 or transfer to specialist neonatal care) was defined. Secondary outcomes included epidural anesthesia, duration of the second stage of labor, episiotomy, obstetric injury, and postpartum hemorrhage. Non-inferiority was assessed, and multiple logistic regression analysis was performed. Results 612 women were admitted for labor in AMU, the control group consisted of 612 women giving birth in standard obstetric care. Women in the study group were on average older and had a higher BMI. Birthweight was on average 95 g higher in the study group. Non-inferiority could be established for the primary outcome parameters. In the study group, less interventions were performed (epidural anesthesia rate 19.1% vs. 41.2%; episiotomy rate 4.7% vs. 8.6%). The duration of the second stage of labor was shorter (47.4 min. vs. 55.6 min.), and second-degree perineal tears were less common in the study group (34.4% vs. 46.4%), higher-order obstetric lacerations occurred more frequently in the study group (2.3% vs. 0.9%). There was no difference in the postpartum hemorrhage rate.
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