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Biomedical subjects

I Bjerre

Publications and source records attributed to I Bjerre.

At least 19 recordsLinked to original sources
PubMed2001

Longitudinal follow-up of children born preterm: somatic and mental health, self-esteem and quality of life at age 19.

In a long-term prospective study, 39 preterm children born before 35 completed weeks of gestation and 23 full-term children were followed up at 19 years of age. Information about somatic and mental health was obtained through interviews and confirmed by medical records. Self-esteem and quality of life were assessed from the subjects' perspective. Significantly more preterms than full-terms had somatic health problems, both during childhood and adolescence and also at age 19. A wide spectrum of diagnoses was represented. Preterms with moderately severe somatic problems also showed signs of psychological distress. The frequency of mental health problems did not differ between the groups. Preterms and full-terms had similarly positive scores regarding self-esteem and quality of life. Altogether, the results indicate that apart from some vulnerability regarding physical health, this group of moderately immature subjects born preterm seems to function as well as young adults in general in important domains of life.

Adult↗
PubMed1998

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.

Amino Acid Sequence↗
PubMed1996

Abnormal fetal aortic velocity waveform and minor neurological dysfunction at 7 years of age.

Measurements of fetal aortic blood flow velocity and fetal growth were performed in 178 pregnancies. In 87 cases, the estimated fetal weight was > or = 2 SD below the gestational age-related mean of the population. Three fetuses died in utero. In 149 children (85%), a neurological examination was performed at 7 years of age with special emphasis on minor neurological dysfunction. The frequency of the more severe form of minor neurological dysfunction, MND-2, was higher in the group with blood flow class (BFC) III (absent or reversed end-diastolic flow velocity (8/21) than in the group with BFC 0 (normal velocity waveform) (14/105). Logistic regression analysis revealed that abnormal blood flow class, both independently and in combination with other factors, was the most significant predictor of MND-2. The association found between abnormal fetal aortic velocity waveforms and adverse outcome in terms of minor neurological dysfunction suggests that hemodynamic evaluation of the fetus has a predictive value regarding postnatal neurological development.

Analysis of Variance↗
PubMed1996

Abnormal fetal aortic velocity waveform and intellectual function at 7 years of age.

Measurements of fetal aortic blood flow velocity and fetal growth were performed in 178 pregnancies. In 87 cases, the estimated fetal weight was > 2 SD below the gestational age-related mean of the population. Three fetuses died in utero. In 148 children (84%) an assessment of overall intellectual ability was performed at 6.5 years of age. Verbal and global IQ was lower in the group with an abnormal fetal aortic blood flow velocity waveform (mean +/- SD 96.0 +/- 17.7 and 95.9 +/- 15.7, respectively; n = 41) compared to the group with a normal waveform (102.1 +/- 12.2 and 102.9 +/- 13.2, respectively; n = 105; p < 0.05). Logistic regression analysis revealed that abnormal fetal aortic velocity waveform, both independently and in combination with other factors, was a significant predictor of impaired intellectual outcome. The association found between abnormal fetal aortic velocity waveform and impaired intellectual outcome suggests that hemodynamic evaluation of the fetus has a predictive value regarding postnatal intellectual development.

Analysis of Variance↗
PubMed1993

Joubert syndrome associated with Leber amaurosis and multicystic kidneys.

We describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported.

Cerebellum↗
PubMed1993

Searching for human epilepsy genes: a progress report.

Application of new genetic techniques has brought remarkable discoveries in the study of genetic diseases. The potential benefits from applying such technology to idiopathic epilepsies include improved understanding of cellular mechanisms and potential new methods of prevention and treatment. The complex problems involved in studying the hereditary epilepsies include: defining of specific phenotypes; detecting genetic and non-genetic heterogeneity; and specifying the appropriate mode of inheritance and penetrance. The gene loci for three primary epilepsies have been localized to specific chromosomal regions, and serve to demonstrate the process used in generalized linkage studies of hereditary epilepsy syndromes. Benign familial neonatal convulsions (BFNC) and Unverricht-Lundborg progressive myoclonus epilepsy are rare single-gene disorders that are sufficiently localized to chromosomal regions that positional cloning studies are likely to succeed. Juvenile myoclonic epilepsy (JME), a common hereditary syndrome with an uncertain mode of inheritance, has been reported to be linked to chromosome 6p. JME presents a challenge for generalized linkage methodology that may be overcome by attending to potential problems reviewed here. The candidate-gene method, combined with studies using animal models, holds promise for understanding these as well as other hereditary epilepsies.

Animals↗
PubMed1992

Sleep and wakefulness in preadolescent children with deficits in attention, motor control and perception.

In 10 children with deficits in attention, motor control and perception (DAMP), the relation between daytime vigilance and night-time sleep quality was examined with polygraphic sleep recordings, multiple sleep latency tests and measurements of reaction times. Two girls and eight boys, 6-12 years of age were studied. Eighteen normal children served as controls. Normal sleep regulation and sleep quality was found, but the children with DAMP tolerated the recording procedure less well than the controls. Most patients did not suffer from increased daytime sleepiness, but at MSLT 3, patients had short sleep latencies as in daytime hypersomnolence. Reaction times were significantly longer among the patients than among the controls. It is proposed that the findings may be related to functional changes in the forebrain.

Attention Deficit Disorder with Hyperactivity↗
PubMed1990

Follow-up of preterm children: II. Growth and development at four years of age.

In a long-term prospective study, 46 unselected infants born before 35 completed weeks of gestation were compared with 26 full-term infants. At four years of age, 44 preterms and 25 full-terms were available to follow-up. The preterms were somewhat shorter in stature and lighter in weight than the full-terms but fell well within the normal range for Swedish children. Head circumference in the preterm group was significantly correlated to neurological development. Psychometric evaluation with Griffiths' mental developmental scale showed the preterms to fall within the normal range, though their performance was inferior to that of the full-terms. The greatest differences between the groups were in scores for the subscales eye and hand coordination, performance, and practical reasoning. There was no correlation within the preterm group between the test results and birthweight, gestational age, prenatal score, perinatal score, or parental social status or education. Language development was delayed among the preterms, more of whom required speech therapy. Visual and hearing disorders were more common among preterms than expected. Although they were all in good health, more preterms than full-terms needed hospital care during the first four years of life.

Body Height↗
PubMed1989

Follow-up of preterm children. I. Neurological assessment at 4 years of age.

In a long-term prospective study, 46 unselected infants born before 35 completed weeks of gestational age were compared with 26 full-term infants. At 4 years of age, 44 preterms and 25 full-terms were available to follow-up. Two preterm children manifested abnormal neurological development, slight spastic diplegia in one case, and psychomotor retardation in the other. Both these cases had already been identified at 18 months of age. Thorough neurological assessment revealed a number of differences between the two groups indicating both delayed neurological maturation and mild dysfunction in the preterms. We drew up a neurological profile to describe these minor neurological signs. The preterms had poorer muscle tone, more spontaneous movements, and were less skilled in certain gross motor functions. They also showed less developed balance reactions, had difficulties in some coordination tests, and asymmetry was more common in neurological functions. In the different subsystems of the neurological profile we also found a greater variation in the preterm group than in the full-term group. There were no significant correlations within the preterm group between the neurological findings at 4 years of age and gestational age, birthweight, and prenatal or perinatal factors.

Child, Preschool↗
PubMed1989

Erythrocyte insulin binding in a family with hereditary motor sensory neuropathy (Charcot-Marie-Tooth) with superimposed insulin-dependent type I diabetes mellitus.

Studies on erythrocyte insulin receptors were performed in a family with hereditary motor sensory neuropathy (Charcot-Marie-Tooth) with superimposed type I diabetes mellitus. The maximum specific insulin binding of the erythrocytes was high and the increase was shown to be due to increased affinity of the insulin receptor to erythrocytes.

Adolescent↗
PubMed1988

Cause and effect of obstetric (neonatal) brachial plexus palsy.

We have studied the causes and outcome of obstetric brachial plexus palsy in all children born in Malmö during the 10-year period 1973-1982. Forty-eight of 25,736 live-born children (0.19%) were neonatally diagnosed as having a brachial plexus paresis. Twenty-five percent of these, i.e., one child in 2,000 liveborn, had a persistent palsy. The obstetric history was characterized by high birthweight, vertex presentation with shoulder dystocia and multiparity; and in two cases the mother had two children with brachial palsy. The children who recovered totally did so during the first few months. The prognosis for the more common upper brachial plexus, or Erb's, was more favorable than that for entire brachial plexus palsy. All the children with persistent palsy were afflicted with considerable reduction in arm function, resulting in varying degrees of handicap, such as not being able to use the palsied arm at all or not being able to perform certain tasks--writing properly, playing a musical instrument, doing the hair, wearing clothing with shoulder straps, etc. We wish to point out that, in several cases, obstetric brachial plexus palsy results in a lifelong handicap and that prevention and therapy are essential both in obstetric and in pediatric management.

Arm↗
PubMed1986

Role of asphyxia and slow intrauterine growth in morbidity among breech delivered infants.

The outcome of breech delivery was evaluated by a neonatal neurological score and a follow-up examination at 18 months of age. The subjects were 132 children identified by ultrasound to be in breech presentation in the 33rd gestational week. 62 were born in breech presentation, while 70 turned to vertex presentation. During the early neonatal period, a neurological score was obtained based on the results of 29 items concerning posture, muscle tone, reflexes and reactions. Although there was no difference, in neurological score or in general development when the entire breech and vertex groups were compared, the SGA (small-for-gestational age) infants and the infants with low Apgar scores of the breech group had the poorest neurological scores. The contribution of certain maternal and fetal factors to postnatal condition was evaluated by a multiple linear regression analysis. Within the breech group, relationships were found between the neurological score and the variables intrauterine growth, fetal sex, and low Apgar score. A major part (66%) of the variation in neurological score was explained by the combination of these variables. These factors should therefore be taken into consideration when deciding on the mode of delivery in breech presentation.

Apgar Score↗
PubMed1986

Hip joint instability in breech pregnancy.

222 consecutive fetuses found by ultrasound to be in breech presentation in the 33rd gestational week were followed with repeated examinations in weeks 35 and 38. Ninety-one of these fetuses persisted in breech presentation until delivery, while cephalic version occurred in 131. The frequency of hip joint instability was 21% in the breech delivered group and 1.5% in the vertex delivered group. The position of the fetal legs was established at each ultrasound examination. The intrauterine fetal attitude was classified as extended when the fetuses had extended knees and maximally flexed hips at all ultrasound examinations. This occurred in 30 breech delivered fetuses, 47% of which developed hip joint instability. Only 8% of the breech born infants with flexed legs in utero developed hip joint instability. It is concluded that instability of the hip joint is a consequence of the intrauterine attitude, rather than of the breech delivery per se.

Breech Presentation↗
PubMed1986

Growth in breech presentation. Ultrasound and post-partal assessment of growth in 225 fetuses presenting by the breech in the 33rd gestational week.

225 fetuses with ultrasonically determined gestational age were shown by ultrasound to be in breech presentation in the 33rd gestational week. The biparietal diameter (BPD) and the mean of two perpendicular abdominal diameters (AD) were measured ultrasonically in gestational weeks 33, 35, and 38. Based on these measurements, fetal weight was estimated and compared with weight, length, and head circumference at birth and at 18 months of age. 42% of the fetuses were born in breech presentation (breech group) and 58% in vertex presentation (vertex group). The mean birth weight corrected for gestational age was 4.9% lower in the breech group than in the vertex group, which corresponds to the lower intra-uterine values of BPD and AD found in the breech group. The weight differences at birth still persisted at 18 months of age. There were no differences between the groups regarding head circumference or length, either at birth or at 18 months of age.

Birth Weight↗
PubMed1986

Microcephaly and congenital cytomegalovirus infection: a combined prospective and retrospective study of a Swedish infant population.

Microcephaly and its etiology were studied in an unselected Swedish urban infant population. Virtually, all live-born infants (14,724) born between October 1977 and December 1983 in the city of Malmö, Sweden, were included in the study. Special attention was given to the role of congenital infections, particularly to cytomegalovirus infection. The infant population was studied from two points of view. One part of the study was prospective and based on regular cytomegalovirus isolation in urine within the first week of life. About 80% of the newborns were adequately studied by this test. None of 56 infants shown to be cytomegalovirus excreters (congenitally infected) and followed up were born with or developed microcephaly (head circumference smaller than 3 SD below the mean for age and sex) during the first 1 to 7 years of life. However, two of the 56 infants had a head circumference of -2 SD. In the beginning of 1985, an inventory was made of the presence of symptomatic microcephaly in the above mentioned population still living in the city or deceased there. Of about 10,000 such children, 12 were found to have symptomatic microcephaly. By studies of personal, clinical, and laboratory data and by retrospective serologic studies of frozen pre- and postconceptional maternal sera, a possible explanation or a recognized syndrome was obtained in ten of the 12 cases. In one of them, the mother had a primary cytomegalovirus infection, possibly in early pregnancy. Although the infant had symptoms compatible with a congenital infection, no laboratory evidence of transmitted infection was found. In no case were congenital rubella virus or Toxoplasma gondii infections suspected.

Antibodies, Viral↗