Diagnosis and treatment of a newborn with homozygous protein C deficiency.

UNLABELLED: The case is reported of a seriously affected newborn with homozygous protein C deficiency who developed neonatal purpura fulminans. Foetal ultrasound at 33 wk of gestation revealed ventriculomegaly. The first lesions appeared on the scalp 48 h after birth. She was initially treated with fresh-frozen plasma and, after the diagnosis was confirmed, with purified protein C concentrate. After skin necrosis had healed, therapy was continued with oral warfarin. The infant was homozygous for protein C W380G mutation. Diagnosis at the DNA level gave the parents an option of reliable prenatal diagnosis in their subsequent pregnancy. CONCLUSION: Difficulties in reaching an accurate diagnosis are discussed since early diagnosis and urgent therapy with protein C replacement are crucial to avoid further damage after delivery.

Effects of gestational age and prenatal and perinatal events on the coagulation status in premature infants.

OBJECTIVE: To study prospectively the effects of prematurity and perinatal events on the coagulation status of premature infants. PATIENTS AND MAIN OUTCOME MEASURES: Blood samples from premature infants born before 37 gestational weeks were taken for analysis of coagulation factors II, V, VII, and X and platelet count. RESULTS: A total of 125 premature infants, 71 boys, were studied at the median postnatal age of 40 minutes (range 12-100). The lowest median activities of coagulation factors II, V, VII, and X and the platelet count were observed, as expected, in infants (n = 21) born at 24-27 weeks gestation. Twin B (n = 14) had lower median activities of coagulation factors II, V, VII, and X than twin A. Infants with evidence of mild asphyxia (Apgar score at 5 minutes < 7 or cord pH < 7.26) had significantly (p < 0.05) lower levels of coagulation factors II, V, VII, and X and platelet counts than infants without asphyxia. Infants who were small for gestational age (SGA) had significantly (p < 0.05) lower levels of coagulation factors V and VII and platelet counts than infants of appropriate size for gestational age. Other prenatal and perinatal variables examined (sex, maternal hypertension and/or pre-eclampsia, antenatal steroid use, mode of delivery, Apgar scores) did not show any significant associations with coagulation status, which may be explained by the small number of infants studied. CONCLUSIONS: The data strongly suggest that there are distinct differences in specific coagulation tests in different patient populations, which could assist in the identification of extremely preterm, SGA, or asphyxiated preterm infants who may be susceptible to haemorrhagic problems perinatally.

The effect of structures on indoor humidity--possibility to improve comfort and perceived air quality.

The research presented in this paper shows that moisture transfer between indoor air and hygroscopic building structures can generally improve indoor humidity conditions. This is important because the literature shows that indoor humidity has a significant effect on occupant comfort, perceived air quality (PAQ), occupant health, building durability, material emissions, and energy consumption. Therefore, it appears possible to improve the quality of life of occupants when appropriately applying hygroscopic wood-based materials. The paper concentrates on the numerical investigation of a bedroom in a wooden building located in four European countries (Finland, Belgium, Germany, and Italy). The results show that moisture transfer between indoor air and the hygroscopic structure significantly reduces the peak indoor humidity. Based on correlations from the literature, which quantify the effect of temperature and humidity on comfort and PAQ for sedentary adults, hygroscopic structures can improve indoor comfort and air quality. In all the investigated climates, it is possible to improve the indoor conditions such that, as many as 10 more people of 100 are satisfied with the thermal comfort conditions (warm respiratory comfort) at the end of occupation. Similarly, the percent dissatisfied with PAQ can be 25% lower in the morning when permeable and hygroscopic structures are applied.

Antepartum findings in fetal protein C deficiency.

A pregnancy with fetal homozygous protein C deficiency was complicated in the third trimester by fetal ventriculomegaly, intraorbital thrombosis and placental infarcts, which could be imaged by combined use of ultrasonography and MRI.

Postdural puncture headache is not an age-related symptom in children: a prospective, open-randomized, parallel group study comparing a22-gauge Quincke with a 22-gauge Whitacre needle.

Many reports have shown a low incidence of postdural puncture headache (PDPH) and other complaints in young children. The objective of this open-randomized, prospective, parallel group study was to compare the use of a cutting point spinal needle (22-G Quincke) with a pencil point spinal needle (22-G Whitacre) in children. We studied the puncture characteristics, success rate and incidence of postpuncture complaints in 57 children, aged 8 months to 15 years, following 98 lumbar punctures (LP). The patient/parents completed a diary at 3 and 7 days after LP. The response rate was 97%. The incidence of PDPH was similar, 15% in the Quincke group and 9% in the Whitacre group (P=0.42). The risk of developing a PDPH was not dependent on the age (r < 0.00, P=0.67). Eight of the 11 PDPHs developed in children younger than 10 years, the youngest being 23-months-old.

Clinically symptomatic central venous catheter-related deep venous thrombosis in newborns.

The objective of this study was to evaluate the incidence of clinically symptomatic central venous catheter (CVC)-related deep venous thrombosis (DVT) in newborns and small infants and to try to identify clinical and genetic risk factors for catheter-related DVT among children with thrombotic complications. CVC was inserted in 44 consecutive infants (age range 0-90 d) during the period January 1990 to December 1995 in the neonatal intensive care unit (NICU) of Kuopio University Hospital in Kuopio. The symptoms of DVT were: syndrome of superior vena cava in 2, swelling at the CVC puncture site in 6 and repeated CVC obstructions in 2. The formation of DVT was verified by venography. Children with DVT (n = 10) had 26 (10-365, in total 623) catheter days compared with 9 d (1-155, in total 591) in patients without DVT (n = 26) (p < 0.005). The median (range) number of days from catheter insertion to diagnosis of DVT was 19 (7-210). CVC had to be removed from 11 (25%) children due to various complications. There was no DVT-related mortality. A positive family history with thromboembolic episodes at a young age was found in 3 of 10 families with a child suffering CVC-related DVT. The levels of coagulation inhibitors were evaluated at the age of 9-69 mo in all 10 (23%) children with CVC-related DVT. We detected no deficiencies in protein S, protein C or antithrombin III. One child was heterozygous for the point mutation (R506Q) in the factor V gene known to cause activated protein C resistance (APCR). We conclude that newborns with CVC are at great risk of DVT and that the aetiology of DVT can rarely be identified via measurements of coagulation inhibitors.

Prophylactic administration of granulocyte colony-stimulating factor (filgrastim) after conventional chemotherapy in children with cancer.

We evaluated granulocyte colony-stimulating factor (G-CSF) as an adjunct to courses of conventional chemotherapy in 16 children with cancer. One course followed by G-CSF (20 episodes) was compared to identical courses without G-CSF (20 episodes) in the same patients. The mean duration of G-CSF therapy was 8.8 (5-13) days. The periods of neutropenia (4.8 days versus 16.5 days; p < 0.0001), days of hospitalization for febrile neutropenia (13 days versus 65 days; p = 0.02) and days on broad-spectrum antibiotics (13 days versus 95 days; p = 0.003) were significantly reduced. With the use of G-CSF the profound neutropenia could be prevented in 11 (55%) episodes. There were two episodes of fever and neutropenia in the G-CSF group as compared to 10 febrile neutropenias in the control group (p = 0.04). G-CSF was well tolerated and did not cause additional expenses when compared to the expenses needed for the treatment of febrile neutropenias. The cost benefit analyses showed that through using G-CSF a savings was realized in the amount of U.S. $20,650 for 20 cycles of chemotherapy, i.e., U.S. $1,033/chemotherapy cycle. We conclude that the use of G-CSF was efficacious and did not increase the total costs of therapy.