Biomedical subjects
Publications and source records attributed to A Menget.
Congenital myotonic dystrophy is the neonatal form of Steinert myotonia. It is particularly severe when the mother carries the gene. The diagnosis is made after finding the myotonia in the mother. Prenatal diagnosis can be made by researching the Steinert's disease gene by fetal DNA analysis.
A prospective study was performed in order to compare birth weights, gestational ages at birth, perinatal and neonatal morbidity and mortality rates and therapeutic burdens given to 157 premature twins and 389 premature singletons. This study did not show real differences between premature twins and singletons, as if multiple pregnancies do not lead to other significant pathology than prematurity. The only observed differences were higher rates of breech presentation, wet lung disease, and lower rates of materno-foetal infection and pulmonary hypertension syndrome for premature twins.
Early predictive factors for successful extubation were investigated, in order to determine the best moment for respiratory weaning of the newborn, and the risk of subsequent reintubation. PaO2/FiO2 ratio, PCO2 and respiratory rate were measured 2 h after extubation in 100 newborn infants. There was no statistically significant difference for the PaO2/FiO2 ratio and PCO2 between infants who were successfully extubated (group 1) and those who required subsequent reintubation (group 2). By contrast, the respiratory rate 2 h after extubation was significantly higher in group 2, and a respiratory rate greater than 70/min appears to be the earliest ventilatory modification predictive of the need for further mechanical ventilation before the occurrence of hypoxemia and respiratory acidosis.
The increasing aggressivity of the modern technology connected with neonatal resuscitation had led to the recognition by paediatricians of the existence of pain in the newborn, and of the necessity to treat this condition. The neurophysiological development of the neonate is such that it allows pain perceptions even in premature infants; a number of clinical parameters have therefore been described for pain recognition in neonates. An antalgic therapeutic scheme to be used for treatment of pain in the intensive care unit is proposed.
The authors report 2 cases of functional intestinal pseudo-obstruction in infancy associated with intestinal and urologic anomalies. In the first case many intestinal obstructions occurred from the age of 3 weeks and the boy was operated on at 14 months of age. A short small bowel and an intestinal malrotation were found at surgery; the alimentary canal was completely aperistaltic, and an ileostomy was performed. Further operations were carried out, for obstruction due to adhesions, and lastly to perform another ileostomy. An antenatal diagnosis of megacystis had been made with ultrasonography. In the second case, the pseudo-obstruction syndrome occurred at the age of 1 month, due to a volvulus of the small bowel with malrotation. A second operation, one month later because of lack of intestinal transit showed an aperistaltic bowel and a colostomy was performed. The intestinal continuity was set up again at the age of 9 months and a fractional feeding was started. A megacystis was found during urologic investigations. Growth is correct for both children at 3 years of age. A review of the literature allowed to list the most frequent digestive or extradigestive anomalies associated with this syndrome.
The authors report on 4 cases of Rubinstein-Taybi syndrome. The specific features of this clinical entity of unknown aetiology, are emphasized: mental retardation, characteristic faecies, broad thumbs and large toes; short stature and cryptorchidism are often associated.
A post-operative follow-up in 21 cases of Congenital diaphragmatic hernia (C.D.H.) was carried out on 2 groups of patients. The first consisted in patient treated a long time ago by different anaesthetic methods which were not very precise. The other sample was recent, and a strict anesthetic procedure was used, analgesia and curarization with mechanical ventilation. Post-operative complications decreased on the ratio of 1/7, the intensive care stay being halved. The overwhelming importance of the correct anaesthetic procedure was underlined. An overall survival rate of 76% gives hopes for a better future for patients suffering from this malformation.
At 26 weeks' gestation, the patient gave birth to 2 premature infants who did not survive. Following this delivery, under general anaesthesia and infusions of tocolytic drugs and antibiotics the uterus was washed with Ringer's lactate solution and cerclage of the cervix was performed after ligation and section of the two umbilical cord flush with the cervix. The "second delivery" was delayed by 3 weeks; the child weighed 1,150 grams at birth and survived. Six similar cases (including ours) have been published, and in each of them one living child was obtained. The above technique can therefore be recommended, in case of premature delivery before 28 weeks of gestation, for women with multiple pluriamniotic pregnancy.
Through the case report of severe digitalis intoxication in a premature born after 27 weeks of gestation with a birthweight of 800 g, the authors show that anti-digoxin antibodies constitute a very efficacious therapeutic tool which, up to the present, has not been used in prematures.
A 3,200 g birth weight, 38-week gestational age neonate developed very severe persistent pulmonary hypertension following surgical repair of a left diaphragmatic hernia. Despite administration of dopamine, dobutamine, and tolazoline, a significant alveolar-arterial oxygen difference (660 mmHg) was found at age 41 hours. Nifedipine was then administered sublingually in a dose of 1 mg/kg and produced an immediate and dramatic improvement in the right radial artery pO2 that was sustained despite persistence of the right-to-left shunt. We discuss the mode of action of this vasodilating agent that, when added to major therapeutic agents, proved capable of completely reversing a hazardous neonatal situation.
On the 4th day of acyclovir treatment for Herpes simplex pneumonia, a 28 month-old girl who had received allogenic marrow transplant for stage IV neuroblastoma presented with severe neurologic disorders including coma and choreic movements. These symptoms disappeared 9 days after acyclovir was stopped. The disturbance in acyclovir kinetics because of acute renal failure and/or a cerebral cortex atrophy might explain the poor neurologic tolerance of acyclovir. This reversible neurologic involvement on a prone patient should be known as a differential diagnosis of Herpes simplex encephalitis.
A 4 month-old premature infant having received prolonged intensive care for necrotizing enterocolitis and Pseudomonas infection, developed anuria with intrapyelic fungus ball developed in a congenital single kidney. Review of the literature found 19 similar cases and emphasized the difficulty of an early diagnosis and the usefulness of renal ultrasonography for its detection. Moreover the opportunity to treat premature neonates carrying candida albicans with IV amphotericin B and flucytosine before the occurrence of an uneasy treatable urological obstacle in discussed.
The authors report two new cases of 11q trisomy, one due to a "classical" (11q; 22q) translocation, one due to a desequilibrated (8q; 11q) translocation (de novo). The 2 phenotypes are compared with the data of the literature on the 11q trisomy syndrome.
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The preliminary results of our experience with the "inverted" subxiphoid approach for 2D echocardiographic visualisation of patent ductus arteriosus (PDA) in premature neonates and infants are reported. Eight premature ventilated neonates weighting 870 to 1,200 g with an isolated PDA were examined by this technique using a mechanical sector scanner and a 7.5 MHz transducer; three views were obtained (left ventricular outflow tract or "long axis"; an oblique view through the two atria and aortic arch; short axis view of the ventricles). A PDA was directly visualised in 6 of the 8 patients. It was possible to measure its diameter and observe its tortuous or rectilinear trajectory; the outcome of Indomethacin therapy or surgical ligature could also be evaluated. In the 2 patients in whom the PDA was not visualised, there were no clinical symptoms or echocardiographic signs of shunt: these PDA were therefore probably extremely small. In the neonate and infant, it is relatively easy to demonstrate a PDA by this approach. The PDA can also be followed up in "ductus dependent" congenital heart disease during treatment with Prostaglandin E. In conclusion, the subxiphoid approach represents an interesting alternative for the visualisation of PDA, especially in premature neonates in whom the suprasternal and parasternal views are often difficult to obtain.
Eight children with steroid-response nephrotic syndrome were investigated to study the relation-ship between steroid responsive syndrome, allergy and HLA-antigens. Six of them had clinical and/or biological allergic symptoms. The allergen was identified in four out of six cases (grass-pollen 2 cases, house dust 1 case, frullania 1 case). Six children had DR7 HLA-antigen, five had B12 antigen. Three of the four children with cortico-dependent nephrotic syndrome have associated B12-DR7 HLA antigens. Search of an allergen seems to be of interest in children with steroid-responsive nephrotic syndrome, since eviction of the allergen may be proposed as a complement to cortico-therapy.
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The locked in syndrome seldom occurs in children, is rarely due to trauma and only in exceptional cases has a favourable outcome. The case reported below is unusual in all these respects, and its evolution might be an example of successful axonal regeneration in the central nervous system.