[G6PD deficiency revealed by eating of beans and the ingestion of sulfamethoxazole].
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Biomedical subjects
Publications and source records attributed to D Oriot.
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We report on a newborn baby, exposed to valproic acid in utero, with the typical dysmorphic features of the fetal valproate syndrome and omphalocele. One identical case has already been reported after valproic acid exposure in utero.
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Hyperexplexia is a disease of neonatal onset characterized by an exaggerated startle reflex. Early diagnosis is important to rule out epilepsy. Clinical findings are mainly hypertony and generalized startle reflex which is exaggerated by tiredness and some exogenous stimuli. Electroencephalogram is normal. The expression of the disease is variable including minor forms that may be unnoticed and major forms with arthrogryposis-like symptoms, orthopedic complications, false passages, apnea and even sudden infant death (SID). The evolution is generally benign and symptoms disappear within 2 or 3 years. A neuromotor retardation is often present, without intellectual deficit. In severe forms, the risk of SID requires a multidisciplinary follow-up including monitoring and treatment with clonazepam. A low GABA level in cerebrospinal fluid has been reported. Present etiological hypotheses include neuromediator and/or receptor dysfunction.
BACKGROUND: High psychosocial risk pregnancies require specialized multidisciplinary help and follow-up in order to improve the outcome of babies. POPULATION AND METHODS: Thirty pregnancies were selected among 3500 and followed by a multidisciplinary team during 1990 and 1991. Evaluation included risk predictors, neurodevelopmental outcome of children at 9 and 24 months, number and time of judicial notifications. Evaluation of the mother-to-baby relationship by a psychologist as well as the environmental variables were performed. RESULTS: Four families had one or two, 20 families three or five and six families, six or more of the 15 risk predictors studied. Over the babies followed-up until the age of 24 months, four were placed out of the family, three hospitalizations were medically unjustified and there was no hospitalization for child abuse or neglect. Twelve children had development delay and two developed an environmental-related staturo-ponderal delay. Judicial notifications were realized 18 times during pregnancy or just after delivery and six times during the follow-up for child abuse and neglect. CONCLUSIONS: Taking care of high psychosocial risk pregnancies could be improved in special hospitalization units for mother and child. A better awareness of this problem could also improve the outcome of children, which remains very alarming.
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We measured ascorbic acid (reduced and oxidized) in brain, CSF and blood, before, during and after cerebral ischemia in newborn piglets. Bilateral carotid ligation induced a 54% decrease in cerebral blood flow (p < 0.01) and a 43% decrease in the cerebral metabolic rate of oxygen (p < 0.01). After ischemia and reperfusion, we obtained a 60% decrease (p < 0.01) in total brain ascorbic acid content. CSF ascorbic acid increased during reperfusion: +60% at 30 min (p < 0.001) and +160% at 120 min (p < 0.05). Blood ascorbic acid content did not change. These changes and the absence of massive oxidation of ascorbic acid in brain tissue suggest release of ascorbic acid by the brain during ischemia.
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Clinical assessment is an essential fundamental element in the evaluation of comatose states, particularly in children. Paediatricians quickly recognized that the early Glasgow Coma Scale, used for over 20 years in adults, is inadapted for children because it lacks brain stem criteria, involves interpretation of motor response (particularly difficult in infants) and uses verbal response which is of little value before language acquisition. The first attempt at standardized coma assessment in children was the Paediatric Coma Scale, developed in Australia in 1982. This scale improved on the Glasgow scale, removing the motor retraction response, modifying the verbal response scale (normal, words, sounds, crying, or none) and quantifying the best possible score as a function of age. In 1983 a fundamental modification was proposed in the Jacob scale. Besides removing the motor retraction response, this scale replaced the verbal scale with one based on ocular behaviour, thus evaluating consciousness of presence or stimulation. The vestibular response and pupil reactions were also included to assess brain stem activity. In 1987, we introduced the Bicêtre scale which uses ocular behaviour instead of verbal response and separates ocular diameter as a specific criteria. Assessment of four reflexes (mimic, photomotor, cornea and cough) provides precise information on the activities of the different levels of the brain stem. Several comparative studies have been conducted to determine the positive predictive value and interpersonal variability of these scales. In a prospective multicentric study of 277 comatose children aged 6 months to 15 years, we found that the Bicêtre scale had a positive predictive value of 94% for good outcome at 24 hours and that interpersonal disagreement occurred in only 10.1% of 65 cases studied (compared with 13.5% for the Glasgow scale which was studied simultaneously). Paediatricians now have reliable clinical scales for assessing the conscious level in children.
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Startle disease or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and myoclonic jerks, exaggerated by the slightest stimulus. Low concentrations of free gamma-aminobutyric acid (GABA) have been found in the cerebrospinal fluid of two affected infants. The involvement of GABA or its receptors has been raised and the use of GABA-agonist drugs has been suggested. We report a newborn with startle disease who also had a low concentration of GABA in the cerebrospinal fluid. No clinical improvement was observed with progabide, a GABA agonist. Furthermore, a high dose (100 mg/kg) of gamma-hydroxybutyrate (GHB) did not improve muscular stiffness and failed to induce general anesthesia. GHB, currently used as an effective general anaesthetic, is a structural analogue of GABA. It is present naturally at low concentrations in the brain and is regarded as an inhibitory neurotransmitter. Two specific GHB receptors, distinct from the GABA receptors, have been identified in rat brain. Failure to induce general anesthesia with a high dose of GHB suggests that one of these receptors could be involved in startle disease.
We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.
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Intraosseous vascular access is a simple and very efficient technique for fluid and drug administration in any pediatric emergencies where the intravenous route is impossible or inadequate. Yet it remains unrecognized in France. Its pharmacokinetics is close to that of peripheral intravenous route, but it allows much greater infusion flow rates. In pediatric resuscitation it must be considered as the number one technique of intravascular access in infants, and rapidly as the first alternative after failure of attempt of intravenous route in children under 6. Provided that the technique is performed with careful asepsis, the risk of infectious complications is very low. However the intraosseous route must remain a transitory vascular access, and has to be stopped as soon as possible, its use never exceeding 24 hours.
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