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High-frequency oscillation (HFO) is a technique frequently used in neonatal resuscitation, but which has yet to be evaluated. The use of intrathoracic pressures may have an effect on the cerebral circulation of immature neonates. The aim of this study was to examine the variations in cerebral blood velocity and oxygenation during brief pulmonary inflations (sighs), by focusing on alveolar recruitment. In this prospective study performed in 13 intubated and ventilated neonates (α = 5%; 1 - β = 80%), mean blood velocity and Doppler Resistance Index were measured, and variations in chromophores concentrations were evaluated by near infrared spectroscopy. Brief inflations at 4 cmH[sub 2]O above the mean regulated intra-thoracic pressure did not cause any variation in the parameters measured. An explanation for this discordance with animal studies may be the level of pressure chosen, which could be more appropriate for the pulmonary compliance of neonates. [ABSTRACT FROM AUTHOR]

Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape., (© 2014 Wiley Periodicals, Inc.)

Glutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. Glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a homozygous mutation in the glutamine synthetase gene and enzymatic investigations confirmed that these mutations lead to a severely reduced glutamine synthetase activity. From the observation in the first patients with congenital glutamine synthetase deficiency, brain malformation can be expected as one of the leading signs. In addition, other organ systems are probably involved as observed in one of the index patients who suffered from severe enteropathy and necrolytic erythema of the skin. Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid.

Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and cerebrospinal fluid. Each infant had a homozygous mutation in the glutamine synthetase gene (R324C and R341C). Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity., (Copyright 2005 Massachusetts Medical Society.)

We report the case of a five-day-old newborn with cyanosis. After exclusion of pulmonary and cardiac illness, methaemoglobinemia was diagnosed. Cyanosis is the first symptom of methaemoglobinaemia. Numerous causes of methaemoglobinemia have been described, with congenital and acquired forms, which are the most frequent. We discuss here the clinical features, diagnosis, and treatment of acquired methaemoglobinaemia in newborns with special emphasis on forms secondary to metoclopramide toxicity.

Unlabelled: Late onset of neonatal infection could have been transmitted in prenatal period, but it is usually secondary to a postnatal transmission., Case Report: A premature neonate developed staphylococcal pneumonia at 18 days of life. Genomic typing of the strains of Staphylococcus aureus obtained from the patient and from his mother (found in the endocervix culture 48 h before delivery) was identical. These strains were different from those isolated in other neonates colonised by S. aureus in the unit during at that moment., Conclusion: The observed case of staphylococcal pneumonia may correspond to a nosocomial infection secondary to a pre- or postnatal transmission of the agent by the mother.

Previous studies have shown a reduction of dopaminergic D(2) receptors (D(2)R) in the striatum after hypoxia-ischemia in newborn rats. We show here an early and transient reduction of mRNA D(2)R in nonatrophic brains following hypoxia-ischemia. The left carotid artery of P7 rats was ligated followed by hypoxia for 2 h. The rats were sacrificed after 24 h, 48 h and 14 days. D(2)R mRNA was studied by in situ hybridization, the cell number by conventional histology, and neuronal and astrocyte differentiation by immunohistochemistry. A 20% reduction of striatal mRNA D(2)R occurred 24 h after hypoxia-ischemia, whereas no reduction was observed after 48 h and 14 days. There were no differences in total cell number and in the expression of neuronal (MAP-1, MAP-2) and astrocyte (GFAP) markers between both brain hemispheres nor between control and hypoxia-ischemia animals. The early decrease in mRNA D(2)R could explain the delayed reduced D(2)R after neonatal hypoxia-ischemia., (Copyright 2001 S. Karger AG, Basel)

We report three cases of transient myocardial hypertrophy, diagnosed by echocardiography, occurring between the second and seventh days of life in neonates with initially normal ventricular myocardial wall thickness. The three term neonates had perinatal injury with acute fetal distress. In all three cases electrocardiographic and biologic signs of myocardial ischemia were present. The first echocardiographic results showed abnormalities in systolic or diastolic left ventricular function, without hypertrophy of the walls. The hypertrophic cardiomyopathy (HCM) occurred between days 2 and 7 and affected first the interventricular septum and the free wall of the right ventricle. The left ventricular posterior wall subsequently became abnormal, resulting in severe overall myocardial hypertrophy, which finally disappeared in all three cases between 1 and 5 months of life. Such observations of early severe and transient HCM have not been previously reported. We believe it is a consequence of myocardial ischemia due to acute fetal distress. The prognosis of this type of HCM is good, in contrast to that of other primitive HCM occurring in neonates.

Last years, il became obvious that the colonization pattern described in 1976-1978 was no more valid: early colonization by Enterobacteriaceae at the 2-3 rd day of life in all newborns, with constant presence of antibioresistant strainseven in non treated newborns. To establish the new pattern of colonization, the same quantitative method of dilution and culture on selective media was used daily from day 1 to day 7 (5 days only for M). The number of Enterobacteriaceae, enterococci and staphylococci was determined in the stools of 10 newborns in the Maternity unit (= M) (term 40 weeks +/- 1, birth weight 3,356 g +/- 383), 10 in the Premature nursery (= P) (term 34.9 weeks +/- 1, birth weight 2,457 g +/- 676), and 14 in the Neonatal intensive care unit (= R) (term 35.2 weeks +/- 3.8, birth weight 2,457 g +/- 763). The results establish that colonization by Enterobacteriaceae is no more constant at D3. It could be demonstrated only in 8/10 M, 1/10 P, and 6/14 R (statistically different - p < 0.01 - between M and P). At D5, 9/10 M, 5/10 P, 10/14 R, and at D7, 6/10 P and 10/14 R were colonized. Resistant Enterobacteriaceae (Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae) could be found in only 3/10 M, 4/10 P and 6/14 R. Enterococci could be found in 1 newborn M, 2 P and 7 newborns R. Staphylococci appeared earlier: all newborns M, P and R were colonized at D2, 4 and 5 respectively. These bacteria were coagulase negative, associated with Staphylococcus aureus in 3 P. Our hypothesis is that late colonization with Enterobacteriaceae and enterococci is due to the improvement of hygiene procedures and due to the decontaminating effect of antibiotics in other treated newborns (Enterobacteriaceae by 3 rd generation cephalosporin and enterococci by pharyngeal vancomycin).

The birth and subsequent hospitalization of very low birth weight premature infants can be a psychological shock for parents which may disturb further relationships between infant and parents. The parents' memories from the birth period of 94 very low birthweight premature infants (< 32 weeks of gestational age) have been analyzed by way of an interview. This study has shown the painful aspect of the birth and of the parents' first meeting with the infant. However, despite these first difficulties, the relationship normally improves with time.

Background: In neonatal units, there is a tendency to assume that any acutely sick infant with gastro-intestinal symptoms has necrotizing enterocolitis (NEC). This prospective study was conducted to find a better definition of enteropathy in preterm neonates and their risk factors., Material and Methods: All the 351 preterm neonates admitted to a neonatal unit from 1 August 1988 to 31 July 1989 were included in the study. A chart including 45 items was established for each infant, with special attention to data on the pregnancy, delivery, any early ischemic and/or infectious problem, nutrition and any gastro-intestinal (GI) problem. All the neonates were fed similarly, depending their maturation, gestational age and GI status. Each infant was assigned to one of 5 categories: 1) no GI problem; 2) transient obstruction; 3) NEC with pneumatosis; 4) hemorrhagic colitis without obstruction or pneumatosis; 5) other GI disease., Results: 267 infants had no GI problem during their stay in the neonatal unit. 53 developed GI symptoms: 23 transient obstructions, 6 NEC, and 24 hemorrhagic colitis. The mean age at onset of symptoms in these last 3 categories was 7 days, 14 days and 23 days, respectively. Ten risk factors were found to be significantly correlated with GI disturbances: umbilical venous catheter, benzodiazepines, birth weight < 1,500 g, patent ductus arteriosus, ventilatory assistance, abnormal amniotic fluid, gestational age < 32 weeks, early antibiotic treatment, passage of meconium > 48 hours, episodes of apnoea and/or bradycardia., Conclusion: This follow-up shows that the GI disturbances of preterm neonates admitted to a neonatal unit, specially those having one or more risk factors, can be separated into 3 groups: 1) isolated intestinal obstruction, seen in the most immature babies during the first week of life with the risk of developing NEC; 2) frank blood in the stool, indicating colitis and possibly minor forms of NEC; 3) combined obstructive and hemorrhagic symptoms, typical of NEC.

In 7 neonates with cyanotic heart disease, balloon atrial septostomy was performed in the neonatal intensive care unit under two-dimensional echocardiographic control. Trans-umbilical route was used with success in 6 neonates and percutaneous femoral vein in 1 neonate after failure of the trans-umbilical route. The mean transcutaneous oxygen saturation increase was 22%. No complications were observed. The average duration of the procedure was 25 minutes. Thus this technique is efficient, quick and easy to perform, allowing the procedure to be done under optimal environmental conditions in critically ill neonates.

A case of re-expansion pulmonary oedema is reported. A 7-year-old girl, after having been operated on for a lung tumour, had a postoperative haemothorax combined with atelectasis of the left upper lobe. After she had recovered from the first dose of chemotherapy, the thoracotomy wound was reopened to remove the partially organised and lysed haemothorax, as well as the very thickened pleura. The patient developed clinical signs of pulmonary oedema very shortly after the end of the anaesthetic (tachypnoea, cyanosis, a decrease in oxygen saturation when FIO2 < 1, pink frothy secretions in the endotracheal tube). End-inspiratory crepitations became audible in the left lung field only. The chest film showed left-sided diffuse nodular alveolar opacities. The girl was again ventilated, with + 5 cmH2O positive end-expiratory pressure. She was extubated 36 h later, and discharged a few days later without any sequela. This case was the first to be described in a child after pleural surgery. The death rate, estimated from a literature survey, is about 20%.

A case of severe poisoning in a 2 year-old child who ingested 150 mg of oxaflozane, a non-tricyclic antidepressant, is reported. After loss of consciousness, opisthotonos and coma, recovery was obtained with conservative treatment. Atropine-like symptoms were noted. The maximal plasma concentration of oxaflozane was 63 ng/mL. The elimination half-life for N-dealkyloxaflozane was 4.8 h.

Many of the drugs used in neonatal intensive care units might impede cerebral blood flow, thereby increasing the risk of intraventricular hemorrhage and periventricular leukomalacia. Our studies focussed on sick preterm neonates who were treated with the following drugs: caffeine (20 mg/kg i.v., as caffeine citrate); phenobarbital (loading dose: 20 mg/kg); indomethacin (0.2 mg/kg/dose, every 12 h three doses), and synthetic surfactant (Exosurf; 50 mg/kg = 5 ml/kg intratracheally). All of the drugs studied, except indomethacin, had no adverse effect on cerebral hemodynamics.