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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1985), S. 288-290 
    ISSN: 1432-1076
    Keywords: Nemaline myopathy ; Joint contractures ; Arthrogryposis ; Fetus ; Newborn
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratoy insufficiency.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 123-128 
    ISSN: 1432-1076
    Keywords: Key words: Aminophylline – Cerebral blood volume – Cytochrome c oxidase – Near infrared spectroscopy – Newborn infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. The effect of aminophylline on cerebral blood volume and oxidative metabolism in newborn infants was investigated with near infrared spectroscopy (NIRS). Thirteen mechanically ventilated premature infants who received aminophylline to facilitate weaning from the respirator were selected. Gestational age ranged between 26 and 34 weeks, postnatal age between 1 and 7 days and birth weight between 760 and 2300 g. A bolus of 6 mg aminophylline/kg body weight was infused within 2 min. NIRS was performed continuously across the head to monitor changes in cerebral blood volume and cytochrome c oxidase. Heart rate, transcutaneous carbon dioxide tension (tcpCO2) and arterial haemoglobin oxygen saturation (SO2) were recorded simultaneously. The infusion of aminophylline was associated with an increase in heart rate (median 12, interquartile range 5 – 20 beats per min, P=0.0004) and a drop in tcpCO2 (median −0.4, interquartile range −0.1 to −0.5 kPa, P=0.015). Oxygen saturation remained stable (±3%). A decrease in cerebral blood volume was measured with NIRS in 9/13 patients (median −0.15 ml/100 g brain tissue, interquartile range +0.08 to −0.28, P=0.10). Oxidized cytochrome c oxidase decreased in 11/13 patients (median −0.27 µmol/l, interquartile range −0.19 to −0.44, P=0.01). Our findings demonstrate an immediate step-response of heart rate and tcpCO2 to aminophylline in premature infants. The simultaneous reduction of cytochrome c oxidase in the brain cannot be explained as a consequence of changes in tcpCO2 or changes in cerebral blood volume. We therefore speculate that aminophylline interferes directly with cerebral metabolism.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 158 (1999), S. 686-686 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1989), S. 426-427 
    ISSN: 1432-1076
    Keywords: Borrelia burgdorferi ; Pregnancy ; Infection ; Infant outcome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A serological survey over a 1-year period of 1416 mothers at delivery and their 1434 offspring for the presence of anti-Borrelia burgdorferi antibodies revealed a prevalence of 0.85%. Clinically active Lyme disease during pregnancy was found in 1 of these 12 women with elevated titres and the child was born with a ventricular septal defect. Of six affected children, two had hyperbilirubinaemia, one muscular hypotonia, one was underweight for gestational age, one was macrocephalic, and one had supraventricular extrasystoles. Anomalous findings could not be attributed toB. burgdorferi due to a lack of serological evidence of intrauterine infection. Our data do not imply the need for serological screening in pregnancy, however, the importance of recognition and treatment of Lyme disease in pregnancy is emphasized.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 147 (1988), S. 288-291 
    ISSN: 1432-1076
    Keywords: Premature infant ; Caffeine ; Hypoxaemia ; Bradycardia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fifty spontaneously breathing, preterm infants 48h old, of 32 weeks' gestation or less, were assigned randomly to receive caffeine citrate (loading dose 20 mg/kg, maintenance dose 10 mg/kg per day) or a placebo (NaCl 0.9%). The study hypothesis was that caffeine reduces the proportion of infants with recurrent hypoxaemic episodes (decrease in transcutaneous PO2 of 20% within 20ss) from 50% to 25%. Transcutaneous oxygen tension (tcPO2) and heart rate were recorded continuously for 50h and analysed by computer. The two groups were similar in gestational age, birth weight, delivery mode, sex distribution, and Apgar scores. The mean serum concentration (±SD) of caffeine 2h after the second maintenance dose was 96.0 (±34.5) μmol/l in the group receiving caffeine and 9.3 (±12.8) μmol/l in the group receiving a placebo. The mean proportion of infants with more than six hypoxaemic episodes per 12h in the caffeine groups was higher (57%) than in the control group (51%). The mean proportion of infants with more than six episodes of bradycardia per 12h was not statistically different in the caffeine group (79%) from the control group (86%). Our results suggest that prophylactic caffeine has little if any effect on the risk of developing hypoxaemic episodes and bradycardia in small preterm infants and the supposed 50% reduction which was considered clinically important at the start of the trial can be rejected with confidence.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Chondrodysplasia ; Dominant mutation ; Amino acid substitution ; Allelic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Key words Chondrodysplasia ; Dominant mutation ; Amino acid ; substitution ; Allelic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Streptococci group B ; Human gammaglobulin ; Intravenous therapy ; Neonatal septicaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A human IgG preparation was given intravenously to 36 newborn infants admitted to the neonatal intensive care unit because of suspected septicaemia. IgG was given as a single dose of 0.4 g/kg body weight. Patients serum was obtained immediately before and 30 min after terminating the infusion. Blood was also withdrawn 2 days after giving the IgG in eight of the infants. The sera were tested by radioimmunoassay for IgG antibody levels to surface antigens of group B streptococci (GBS) types Ia, Ib, II and III and to R-protein. The mean increases in anti-type Ia, Ib, II, III and R-protein antibodies 30 min after the end of infusion were 81%, 73%, 49%, 60% and 69% of the preinfusion levels, respectively. This was followed by a rapid decrease during the following 2 days to 25%–32% of the initial increases. Based on the above findings, a controlled trial of passive immunisation in the management of neonatal GBS septicaemia seems justified. The rapid decline in antibody levels would necessitate a second infusion 24 h after the initial immunoglobulin administration if the suspicion of septicaemia persists.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1076
    Keywords: Key words Cerebral blood flow ; Preterm infants ; Neurological outcome ; Brain development ; 133Xenon method
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cerebral blood flow (CBF) studies have provided some insight into pathophysiological mechanisms of cerebral damage in newborn children; their value in predicting brain damage, however, remains elusive. The purpose of our study was to evaluate the role of CBF measurements in predicting developmental outcome in preterm neonates at 18 months. Preterm babies with a gestational age of less than 34 weeks and a birth weight of less than 1500 g (n = 71) were enrolled in the study. CBF was measured by the nonivasive intravenous 133Xe method on three different occasions. We classified our measurements into three groups: depending on the time when performed group 1: between 2 and 36 h (n = 52); group 2: between 36 and 108 h (n = 44); group 3: between 108 and 240 h (n = 41). At the age of 18 months neurodevelopment testing was performed according to the Bayley mental and motor scales. Surviving infants had a higher mean CBF over the three groups than non surviving children (15.2 ± 3.5 ml/100 g brain tissue/min vs 13.0 ± 2.1 ml/100 g brain tissue/min, P 〈 0.05). There was no correlation of CBF with mental or motor development in our study population in either of the three groups. Conclusion In preterm infants basal CBF is higher in surviving than in non surviving infants, but there is no correlation of resting CBF and later neurological outcome.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Pulse oximetry ; Oxygen saturation ; Heart rate ; Patent ductus arteriosus ; Newborn infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or postductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried out on 53 newborn infants selected at random after delivery by caesarean section. Signal detection occurred significantly faster from the hand (50% after 1.3 min, 90% after 4 min) than from the foot (50% after 3.1 min, 90% after 9 min). Both fixation sites showed equally great sensitivity to motion. The heart rates from pulse oximetry recordings were up to 30% lower than those from ECG recordings. Saturation values from the hand were nearly always higher than those from the foot (median difference in the 5th min was 10%; between the 5th and 10th min it was 7%; no significant difference occurred after the 17th min). We conclude that pulse oximetry can be used for documenting oxygenation and right-to-left shunting in newborn infants during the first minutes of life in spite of limitations due to incomplete pulse wave detection and artifacts.
    Type of Medium: Electronic Resource
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