ABSTRACT
This study was designed to examine beta-nerve growth factor (NGF) levels in human cord blood by a two-site enzyme immunoassay using MAb 27/21 to mouse NGF and to determine whether beta-NGF levels show developmental changes. Blood was collected at delivery from 61 newborns, 55 neonates appropriate for gestational age (46 term infants and 9 premature infants), 5 neonates small for gestational age, and 1 neonate with congenital hydrocephalus. In addition, samples were collected from 2 microcephalic children (microcephaly vera) aged 15 and 18 mo, 2 control children, and 4 healthy adults. Mean levels of NGF in preterm infants (n = 9; 13.7 +/- 8 pg/mL) were significantly lower than levels in term infants (n = 47; 21.2 +/- 8.8 pg/mL; p = 0.034 by Mann-Whitney U test). There was no correlation between birth weight, length, head circumference, and beta-NGF levels. In microcephalic children, NGF levels were low (8 pg/mL) compared with control infants' values (22 pg/mL). In adults, beta-NGF levels were higher and ranged between 238 and 292 pg/mL. Our study demonstrates that beta-NGF levels can be assessed in human newborn sera using a two-site enzyme immunoassay with MAb 27/21 to mouse beta-NGF, that beta-NGF levels are extremely low in newborns compared with adults, that beta-NGF levels seems to show developmental changes, and that beta-NGF levels may be used to assess NGF utilization under normal and pathologic conditions such as cerebral malformations.
Subject(s)
Fetal Blood/metabolism , Nerve Growth Factors/blood , Adult , Animals , Humans , Hydrocephalus/blood , Immunoenzyme Techniques , Infant , Infant, Newborn , Infant, Premature , Infant, Small for Gestational Age , Mice , Microcephaly/bloodABSTRACT
The authors report 2 cases of unilateral cerebellar atrophia presenting in the neonatal period with facial peripheral palsy and iso-immune thrombocytopenia respectively. The recognition of cerebellar atrophia has been made by MRI. Unilateral cerebellar atrophia be due to ischemia. MRI seems to be a useful tool in the recognition of cerebellar malformations in the neonatal period.
Subject(s)
Cerebellar Diseases/diagnosis , Magnetic Resonance Imaging , Cerebellar Diseases/complications , Cerebellar Diseases/pathology , Facial Paralysis/etiology , Female , Humans , Infant, NewbornABSTRACT
Brain death can be characterized by cessation of cerebral blood flow. We have measured blood flow velocity in cerebral arteries of 17 comatous children with a transcranial pulsed Doppler equipment. In 11 children who progressed to brain death, we have recorded a progressive decrease of Doppler signal with the following steps: decrease of diastolic velocity, no diastolic velocity, reverse diastolic flow, decrease of systolic signal, no signal at all. In the 6 surviving children (all except one with severe deficits), after an initial reduction but never to a retrograde flow, arterial cerebral blood flow velocity increased to high diastolic values before normalization. Transcranial Doppler technique is non invasive, reliable, can be used at the bedside and repeated; it allows evaluating the cerebral blood flow in comatous children and represents a useful adjunct to brain death diagnosis.
Subject(s)
Brain Death/diagnosis , Echoencephalography , Carotid Arteries/diagnostic imaging , Cerebral Arteries/diagnostic imaging , Child , Child, Preschool , Follow-Up Studies , Humans , Infant , Infant, NewbornABSTRACT
The current knowledge concerning the study of dental cavities cannot account for all clinical aspects of some subjects' resistance to cavity formation. This work concerned, in a first stage, the study of dental anomalies (number, shape and structure), in different groups of children with common diseases. This study has enabled us to evaluate the caries index of the same groups of children. It concerns 13 children with somatotropin deficiency (including 36% of children without any caries), 18 children with chronic renal insufficiency (including 56% of children without any caries), 4 children with Down's syndrome (no caries), one female child with erythropoietic porphyria (no caries), one girl with Incontinentia pigmenti (no caries) and one girl with familial, hypophosphatemic vitamin-resistant rickets (no caries). The percentage of children without any caries is particularly high in the groups under study, in spite of a poor oral hygiene. It seems that such factors as the conditions of dental development, the structure and morphology of the teeth or its environment, are capable of having an effect on caries formation.
Subject(s)
Dental Caries Susceptibility , Down Syndrome/physiopathology , Dwarfism, Pituitary/physiopathology , Growth Disorders/physiopathology , Kidney Failure, Chronic/physiopathology , Adolescent , Child , Child, Preschool , Female , Humans , Hypophosphatemia, Familial/physiopathology , Incontinentia Pigmenti/physiopathology , Male , Porphyrias/physiopathology , Tooth EruptionABSTRACT
In a sepharad family from Morocco, 2 children out of 4 had congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency. The index case had a very severe genital masculinization (Prader V), diagnosed at 18 months of age. For the fourth pregnancy, dexamethasone was given from the 8th to the 24th week of amenorrhea, in order to prevent the virilization of a female fetus. The treatment was interrupted for 5 days, at the 20th week, because of amniocentesis. As the amniotic steroid concentrations were normal, the treatment was stopped. Nevertheless the neonate also has severe virilization of the external genitalia and postnatal hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. The reasons for the failure of the treatment are analyzed.
Subject(s)
Adrenal Hyperplasia, Congenital , Adrenal Hyperplasia, Congenital/diagnosis , Disorders of Sex Development/etiology , Steroid Hydroxylases/deficiency , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/drug therapy , Child , Child, Preschool , Dexamethasone/therapeutic use , Female , Humans , Infant , Infant, Newborn , Pregnancy , Prenatal Care , Prenatal DiagnosisSubject(s)
Poisoning , Acute Disease , Adolescent , Adult , Age Factors , Child, Preschool , Epidemiologic Methods , Female , France , Humans , Infant , Male , Middle Aged , Poisoning/diagnosis , Poisoning/epidemiology , Poisoning/therapy , Sex FactorsABSTRACT
The authors report a massive accidental ingestion of enteric-coated theophylline (Armophilline ) by a young child. A status epilepticus and elevated theophylline serum concentration (167 mg/l) led to use hemodialysis with high dialytic clearance. The elevated clearance was obtained by the use of high permeability membrane, by bicarbonate dialysate and the best quality of vascular access (Hickman catheter).
Subject(s)
Renal Dialysis , Theophylline/poisoning , Child, Preschool , Hemodialysis Solutions , Humans , Male , Membranes, Artificial , Seizures/chemically induced , Tablets, Enteric-Coated , Theophylline/bloodABSTRACT
In this French study with recombinant somatropin, the stimulation of growth in 32 prepubertal (age 10.0 +/- 3.5 years; mean +/- SD) and 19 pubertal (age 14 +/- 1.5 years) GH deficient children was compared; the stimulation of growth was similarly good in the two groups. The height velocity SD scores increased from -2.5 +/- 1.7 and -0.9 +/- 1.5 to 2.2 +/- 1.9 and 1.6 +/- 1.6 in prepubertal and pubertal children, respectively. Expressed as cm/year, these correspond to increases from 3.2 +/- 1.3 cm/year and 4.1 +/- 1.2 cm/year to 8.1 +/- 1.5 cm/year and 8.6 +/- 1.9 cm/year in the prepubertal and pubertal patients, respectively. Safety and tolerance were good and the immunogenicity of Genotonorm was low.
Subject(s)
Growth Hormone/deficiency , Adolescent , Antibody Formation , Body Height/drug effects , Child , Female , France , Growth Hormone/immunology , Humans , Male , Multicenter Studies as Topic , Recombinant ProteinsABSTRACT
A case of severe asymmetrical hypertrophic cardiomyopathy occurring in a 11 month-old infant presenting with adrenocortical adenoma is reported. Cardiac involvement, as shown by echocardiography, recovered after complete excision of the tumor. Despite few published cases, the etiology of the associated cardiomyopathy is discussed.
Subject(s)
Adenoma/complications , Adrenal Cortex Neoplasms/complications , Cardiomyopathy, Hypertrophic/etiology , Adrenocortical Hyperfunction/complications , Humans , Infant , Male , UltrasonographyABSTRACT
A 18-months-old boy, without antecedent nor abdominal trauma, revealed a congenital choledochal cyst by massive hemobilia. This way of revelation is extremely rare and to our knowledge has not been previously reported. The difficulties of diagnostic and surgical management are discussed.
Subject(s)
Common Bile Duct Diseases/congenital , Cysts/congenital , Hemobilia/etiology , Common Bile Duct/surgery , Common Bile Duct Diseases/complications , Common Bile Duct Diseases/diagnosis , Common Bile Duct Diseases/surgery , Cysts/complications , Cysts/diagnosis , Cysts/surgery , Humans , Infant , MaleABSTRACT
A clitoral hypertrophy in a girl presenting with Recklinghausen's disease should suggest the possibility of a local neurofibromatosis without any endocrine etiology. Thirteen cases collected in the literature and a new one reported here, give the opportunity to discuss such a possibility. Better knowledge of this unusual localization should, in each case, allow to discuss the extent of hormonal investigations needed.
Subject(s)
Disorders of Sex Development/diagnosis , Neurofibromatosis 1/diagnosis , Clitoris/pathology , Diagnosis, Differential , Female , Humans , Hypertrophy , InfantABSTRACT
Glucose uptake and O2 consumption of confluent glial cells grown in culture were measured in the presence of serum-free buffer and compared with those measured in the presence of serum from a normal volunteer, from an hGH-deficient dwarf and from a Laron dwarf. Cellular glucose uptake and respiration in the absence or presence of insulin or hGH are inhibited by Laron serum.
Subject(s)
Dwarfism/blood , Glucose/metabolism , Neuroglia/metabolism , Oxygen Consumption , Blood , Cell Line , Growth Hormone/deficiency , Growth Hormone/pharmacology , Humans , Insulin/pharmacology , Neuroglia/drug effects , Oxygen Consumption/drug effectsABSTRACT
In six patients from four different families, the study of the genetic markers of te short arm of chromosome 6 allows to confirm the situation of the gene responsible for congenital adrenal hyperplasia by deficiency of 21 hydroxylase. Thanks to the discovery of a recombination of the maternal haplotype in an affected girl. we consider the situation of the pathological gene with regard to that of the glyoxalase I gene. In the families including at least one patient, these studies permit to tract the heterozygotes and to make a very early or even antenatal diagnosis.
Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 6-12 and X , Genetic Markers , Adult , Child , Female , Genetic Carrier Screening , Humans , MaleABSTRACT
A 7 year-old boy had had partial complex seizures from the age 6 years. Two days after commencing a treatment by VPA in a daily dose of 55 mg/kg body weight, disturbances of consciousness became obvious. He was admitted to hospital two days later. The E.E.G. on admission showed bilateral delta activity. The plasma levels of VPA was 140 mg/l. Diazepam, 7 mg, was given intravenously. Four minutes later, the clinical state and the E.E.G. returned to normal. This observation supports the hypothesis that VPA may have a paradoxical epileptogenic effect in some types of epilepsy.