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Biomedical subjects

C De Praeter

Publications and source records attributed to C De Praeter.

14 recordsLinked to original sources

Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.

We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25-->qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q.

Abnormalities, Multiple↗

Aminoterminal propeptide of type III procollagen in cord blood and amniotic fluid of appropriate-for-gestational-age infants: a predictor of age-related fetal growth rate.

Procollagen propeptide serum levels reflect the rate of collagen production. Because the prenatal period is unrivaled in terms of relative amounts of collagen synthesized per unit of time, this life episode must be the most sensitive period for the study of these biochemical markers of growth variability. N-terminal propeptide of type III procollagen (PIIINP) concentration was measured by two different methods (Fab'-fragment and whole antibody-based RIA assay) on paired samples of cord serum and amniotic fluid from a study cohort of 602 perinates with gestational age ranging from 20 to 41 wk. The aim of this study is to assess the clinical usefulness of the PIIINP assay for the evaluation of fetal somatic growth variation during the second half of normal pregnancies. It was demonstrated that the PIIINP level in cord serum, as well as in amniotic fluid, reflects age-related growth activity in "healthy" fetuses (n = 504) with normal intrauterine growth. This reflection was independent of the cumulative body mass or length already attained at the time of investigation. The PIIINP concentration closely mirrors the shape of the fetal somatic growth velocity curve, expressed as weight-specific gain (g/kg/d) during the second half of pregnancy. It can be concluded that PIIINP level in cord blood or amniotic fluid of fetuses with normal intrauterine growth is an interesting parameter for the assessment of maturity-related fetal growth potential.

Amniotic Fluid↗

Vacuum extraction, bone injury and neonatal subgaleal bleeding.

In a population of 27 flemish newborns with subgaleal bleeding encountered within a period of 6 years, we studied the obstetrical, clinical and radiological data. In contrast with controversial findings from the available literature, there is little doubt that difficult, often elective vacuum extraction is the main cause of this neonatal emergency. Disturbances in haemostasis, when documented, were attributed to focal intrahaematoma consumption, except for one boy who presented with haemophilia and neonatal subgaleal bleeding. Conventional X-ray examination continues to be of importance for the documentation of suture diastasis, fissures and fractures. CT scan reveals both the amount of extra-osseous bleeding, the degree of bone displacement and injury as well as the type and extent of associated intracranial damage. Subgaleal haemorrhage rarely hides a growing synchrondrosal rupture.

Birth Injuries↗

Deep cerebral venous thrombosis in thalamo-ventricular hemorrhage of the term newborn.

Unilateral thalamic bleeding with associated intraventricular hemorrhage is reported in three full-term neonates. The first presented within 48 hours from birth with early onset streptococcal meningitis, persistent pulmonary hypertension, tonic seizures and a tense fontanelle. The second presented 6 days after birth with irritability, opisthotonus, a tense fontanelle and tonic seizures. The third was admitted three days after birth with seizures and a tense fontanelle. In the latter two infants NMR and CT imaging documented thrombosed superficial and deep cerebral veins. The etiopathogenesis of intracranial venous thrombosis in the neonate is diverse: asphyxia, dehydration, polycythemia, sepsis-meningitis and difficult delivery are the main causes. In one of our patients jugular vein compression by the collar of a negative-pressure ventilation chamber probably initiated the intracranial events. More than half of the survivors sustain severe neurological impairment.

Cerebral Hemorrhage↗

Perinatal manifestations of maternal yellow nail syndrome.

A term female firstborn infant had unexplained nonimmune fetal hydrops and recurrent left chylothorax at 4 weeks of age. A few months before conception, her mother had had acute dystrophic nail changes and is being treated for recurrent sinusitis, bronchiectasis, and a deficiency of serum IgG2. We suggest that they both suffer from a dominantly inherited congenital lymphedema syndrome known as 'yellow nail dystrophy.' Prenatal manifestation of this disorder has not been reported previously. The child's anthropometric and neurological development was normal at 1 year of age, whereas mild ankle edema and marbling of the skin of the limbs were salient clinical findings. Inherited lymphedema leading to nonimmune fetal hydrops also has been recognized in chromosomal disorders, Noonan's syndrome, multiple pterygium syndrome, pulmonary lymphangiectasis, and mixed-vessel lymphatic dysfunction. Indicators of parental lymphedema are not on record in those instances.

Chylothorax↗

Creatine kinase isoenzyme BB concentrations in the cerebrospinal fluid of newborns: relationship to short-term outcome.

Creatine kinase brain isoenzyme (CK-BB) was determined in cerebrospinal fluid of 150 neonates by a newly developed immunoenzymatic assay. Newborns with a documented neurologic disorder (intraventricular hemorrhage, postasphyxial encephalopathy, central nervous system infection, or persistent periventricular intraparenchymal echodensities) showed markedly higher concentrations of immunoreactive CK-BB than did the normal newborns or those with subarachnoid hemorrhage. In neonates with seizures the data suggest that the underlying neurologic disorder accounts for the higher CK-BB values and not the seizures per se. High concentrations of CK-BB in the neonatal period were followed by poor short-term outcome.

Central Nervous System Diseases↗

Mass concentration measurements of creatine kinase BB isoenzyme as an index of brain tissue damage.

A new two-site immunoenzymometric method using monoclonal antibodies was developed for measuring CK-BB mass concentrations in cerebrospinal fluid (CSF). Within- and between-assay coefficient of variation values for the method varied between 6 and 9%. Assay results are not affected by presence of sulfate and sialic acid groups on the enzyme. In comparison to catalytic activity measurements, a steady decline in the enzyme's specific activity was observed after acute head trauma. Repetitive measurements of CK-BB mass concentration in cerebrospinal fluid during the first 24 h after trauma enabled the estimation of brain lesion size. Clinical outcome of acute head trauma patients evaluated by Glasglow Outcome Scale, correlated well with cumulative CK-BB release after trauma. Also in neonates, CK-BB determinations in CSF correlated well with clinical findings.

Adolescent↗

CT diagnosis of neonatal subarachnoid hemorrhage.

A retrospective study of the CT data of the brain was carried out in 48 newborns with neonatal subarachnoid hemorrhage. In addition to the posterior interhemispheric opacities generally accepted as an index of this type of bleeding, anterior interhemispheric, paravermian, cisternal and supratentorial hyperdensities must also be taken into account. CT may be helpful in assessment of the amount of blood lost in the extraosseous epicranial tissues. This amount correlates with the severity of intracranial bleeding and may thus be an index of the degree of mechanical trauma. Major pitfalls leading to overdiagnosis are discussed.

Cerebral Hemorrhage↗

Ultrasound measurement of the subarachnoid space in infants.

An original non-invasive method for easy and reproducible measurement of the subarachnoid space width in infants is described. Preliminary results of normal values during the neonatal period are presented as well as of the validity of the ultrasound method for abnormal values obtained by available computed tomography scanning.

Brain↗

[Esophageal perforation in the newborn infant].

A newborn infant with traumatic perforation of the esophagus is described. Etiologic factors, clinical presentation, diagnosis and treatment are discussed. The limitation of negative suction pressure used in neonatal resuscitation is emphasized.

Esophageal Perforation↗

Congenital toxoplasmosis presenting as massive neonatal ascites.

A preterm infant with isolated transudative ascites caused by Toxoplasma gondii is described. In the absence of obvious congenital malformations, toxoplasmosis should be considered in the differential diagnosis of fetal and neonatal non-immune ascites.

Ascites↗