Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.
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Biomedical subjects
Publications and source records attributed to N Kacet.
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We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.
BACKGROUND: The aim of the study was to compare the success/failure rate and complications of insertion into the umbilical vein, of either double-lumen catheters (Charrière diameter 04, length 13 and 30 cm) or single-lumen catheters (Charrière diameter 05, length 40 cm) in a population of neonates admitted to a neonatal intensive care unit. The numbers of insertions of additional peripheral venous catheters were also compared. PATIENTS AND METHODS: The population was divided into two groups according to the severity of the respiratory failure. Group 1 (n = 52): normal hemodynamic parameters and moderate respiratory failure (FiO2 < 0.6): only single-lumen catheters were used. Group 2 (n = 56): low systemic pressure requiring vascular filling and/or inotropic drugs infusion and/or severe respiratory failure (FiO2 > 0.6): in this group, either single-lumen catheters or double-lumen catheters were inserted. RESULTS: The success rate of insertion of double-lumen catheters and of single-lumen catheters were similar (61% vs 71%: P = 0.7). Nineteen double-lumen catheters were inserted in the group 2. The average duration of double-lumen umbilical catheterization was not significantly different from simple-lumen catheterization (4.9 +/- 2.2 vs 4.6 +/- 2.2 days). Complications relating to the umbilical venous catheterization were uncommon: three catheter obstructions (two with single-lumen catheter, one with double-lumen catheters), two nosocomial infections (both with single-lumen catheter), one hydropericardium (with single-lumen catheter). In group 2, more peripheral venous catheters were required during the first 72 hours of life after insertion of single-lumen catheter than after insertion of double-lumen catheters (average number of peripheral venous catheters per infant: 1.6 +/- 0.83 vs 1 +/- 0.35 respectively; P < 0.01). CONCLUSION: Feasibility and complication rate of umbilical double-lumen catheters were similar to those of single-lumen catheters. The use of umbilical double-lumen catheters reduces the need of peripheral venous catheters.
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UNLABELLED: Gram-positive bacteria, notably coagulase negative staphylococci, have become an important cause of infection in neonates. Furthermore, many of these pathogens are now resistant to multiple antibacterial agents. Teicoplanin, a glycopeptide antibiotic, is active against a broad range of Gram-positive pathogens, including methicillin-resistant staphylococci. It has advantages over vancomycin in terms of tolerability, with a lower propensity to cause nephrotoxicity and anaphylactoid-like reactions, and in terms of ease of administration and monitoring requirements. The clinical utility of teicoplanin in neonates with Gram-positive infections has been investigated in several noncomparative studies. Clinical and bacteriological response rates in 173 neonates treated with teicoplanin 8-10 mg/kg intravenously or intramuscularly once daily after a loading-dose regimen of 10-20 mg/kg per day have ranged from 80%-100% and 83%-100%, respectively. Few adverse events related to teicoplanin have been reported in this patient population. CONCLUSION: Teicoplanin (8-10 mg/kg) administered intravenously or intramuscularly once daily after a loading-dose regimen of 15-20 mg/kg per day appears to be an effective and well tolerated treatment for Gram-positive infections in neonates.
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The association of pelvi-ureteric junction obstruction (PUJO) and rapidly fatal persistent pulmonary hypertension of the newborn (PPHN) has been observed in two male siblings. PUJO was also observed in a maternal uncle, whose daughter suffered from vesico-ureteral reflux (VUR). In both patients, histopathologic study of the lungs showed misalignment of pulmonary veins (MAPV), which is a rare autosomal recessive condition leading to severe PPHN and death within the neonatal period. It has occasionally been described associated with PUJO. The authors point out that: i: MAPV has to be carefully searched in case of PPHN; ii: PUJO could be an important finding associated with MAPV, and the only prenatal indication of this lethal condition.
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.
We have previously described a passive inflation method during constant inspiratory flow for measuring total respiratory elastance and resistance during mechanical ventilation in newborns. The simple method for measuring respiratory mechanics had been assessed during decelerating inspiratory flow obtained with pressure controlled ventilation (PCV). We report an application of this method to preterm and full-term mechanically ventilated newborn infants and a comparison with the occlusion method. Twenty-one newborn infants (birth weight 1,060 to 3,650 g; gestational age 26 to 41 weeks), between 1 to 55 days of postnatal age, were enrolled in the study. They were ventilated with a "Servo ventilator 900C," first set in the pressure-controlled mode and then in the volume-controlled mode without changing the tidal volume (VT), inspiratory time or ventilator rate. Flow was measured through a pneumotachograph inserted between the endotracheal tube (ETT) and the breathing circuit; VT was obtained by integration of flow and airway pressure measured directly at the airway opening. Flow, volume, and pressure were plotted on analog X/Y tables to obtain pressure-volume (P/V) and flow-volume (V/V) loops, as well as pressure-time curves. Occlusion was performed by using the end-inspiratory and the end-expiratory pause buttons of the ventilator. The passive inflation method during PCV was based on the analysis of P/V and V/V loops and provided compliance (Crs(PC)infl.), resistance Rrs(PC)infl.) of the respiratory system, and intrinsic positive end-expiratory pressure (PEEP(PC)i,infl.). These values were compared with (1) compliance (Crs(PC)occl.) and intrinsic positive end-expiratory pressure (PEEP(PC)i,occl.) measured by the occlusion method during PCV; (2) static (Crs(VC),occl.) and dynamic (Crs(VC),dyn.) compliance, airway (R(aw)(VC),), tissue (Rrs(VC),visc.) and total resistance (Rrs(VC),occl.), and intrinsic positive end-expiratory pressure (PEEP(VC)i,occl.) measured by the occlusion method during volume-controlled ventilation. Crs(PC),infl. correlated well with Crs(PC),occl., Crs(VC),occl., and Crs(VC),dyn.. Furthermore, Crs(PC),infl. and Crs(VC),dyn. did not differ significantly. Rrs(PC),infl. correlated well and did not differ significantly from total inspiratory resistance, i.e., the sum of R(aw)(VC) and Rrs(VC),vis. PEEPPC,i,infl. correlated well and did not differ significantly from PEEP(PC)i.occl. and from PEEP(VC),i,occl. The passive inflation method can be used during PCV with a decelerating flow waveform. It provides dynamic compliance, inspiratory resistance of the respiratory system, and intrinsic PEEP from the analysis of V/V and P/V loops recorded at the airway opening. This technique is simple to use and well tolerated by preterm and full-term ventilated newborn infants. It can be a good alternative to occlusion methods.
A passive inflation method was described for measuring total respiratory elastance and resistance during mechanical ventilation in adult patients (Rossi et al., J Appl Physiol 58:1849, 1985). We applied this method to preterm and full-term mechanically ventilated newborn infants and we compared the results with those obtained by the occlusion method. We performed 37 tests in 16 newborn infants (B.W. 880-4,500 g; G.A. 28-42 weeks), between 1 and 45 days of postnatal age, ventilated with a Servo Ventilator 900C, set in controlled-volume mode. Flow was measured through a pneumotachograph inserted between the endotracheal tube (ETT) and the breathing circuit, tidal volume by integration of flow and airway pressure directly at the airway opening. Flow, volume, and pressure were recorded on an X/Y plotter to obtain pressure-volume (P/V), flow-volume (V/V) loops, and pressure-time curves. Occlusion was performed by using the end-inspiratory and the end-expiratory pause buttons of the ventilator. Analysis of P/V and V/V loops provided respiratory system compliance (Crs, infl.), resistance (Rrs, infl.), and "intrinsic positive end-expiratory pressure" (PEEPi, infl.). These values were compared with Crs, occl., Rrs, occl., and PEEPi, occl. measured by the occlusion method. The measurements were well correlated (Crs, infl./Crs, occl.: r = 0.90; Rrs, infl./Rrs, occl.: r = 0.91; PEEPi, infl./PEEPi, occl.: r = 0.91). Rrs, infl./Rrs, occl. and PEEPi, infl./PEEPi, occl. did not differ significantly. However, Crs, occl. was 15% higher than Crs, infl. (P less than 0.01). The passive inflation method is simple to use and well tolerated in preterm and full-term ventilated newborn infants, it provides accurate results, and can be a good alternative to occlusion methods. It requires, however, a constant inflation flow and adaptation to the ventilator.
The pharmacokinetics of piperacillin after a single 75-mg/kg intravenous injection as analyzed in 28 neonates with gestational ages of 29 to 40 weeks (A = 29 to 31 weeks, B = 33 to 35 weeks, C = 38 to 42 weeks) and birth weights of 860 to 3900 g during 35 courses. Serum concentrations of piperacillin were determined by high pressure liquid chromatography. A one compartment open model characterized the disposition of piperacillin. Twenty courses were given between Day 3 and Day 5 of life. The elimination half-life and total body clearance were related to gestational age. Differences were significant between Groups A and B and Group C for half-life (4.3 +/- 1.9 and 3.35 +/- 0.75 vs. 2.47 +/- 0.72 hours) and for clearance (1.68 +/- 0.6 and 1.8 +/- 0.4 vs. 2.46 +/- 0.36 ml/min/kg). Volumes of distribution were similar in the 3 groups, from 516 +/- 108 to 633 +/- 226 ml/kg. Fourteen courses were given from Day 9 to Day 11 of life. The same differences were observed between Groups A and B and Group C. Elimination half-life was significantly reduced with simultaneous increase of the total body clearance. In clinical practice, 75-mg/kg intravenous injections every 12 hours during the first week of life and every 8 hours in the second week provide appropriate concentrations in infants of less than 36 weeks gestational age. In full term newborns the 75-mg dosage is appropriate but the number of injections must be increased to 3/24 h for the first week and 4 times daily thereafter.
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In the French region Nord-Pas-de-Calais a Public Health action was undertaken in order to set up a training program for neonatal resuscitation for the maternity-hospitals personnel. The incidence and severity of meconium aspiration among the population of children admitted to the neonatal intensive care unit of Lille University Hospital during two 15 month-periods of time, before and after the training, were compared. The number of neonates who presented with meconium aspiration decreased from 54 during the first period to 9 during the second, i.e. from 7.2 to 1.3% with respect to the total number of hospitalized patients (p less than 0.001). On the contrary, the number of deaths did not decrease significantly. This regression of the meconium aspiration gives evidence for an improved quality of care at birth. Even if training is not the only factor, this evolution gives argument in favour of the efficacy of such actions.
Neonatal meningitis has two closely related features: the mechanism of infection and the nature of the pathogen. When transmitted from mother to foetus, the infection is mainly caused by one of three microorganisms: Streptococcus group B, Escherichia coli or Listeria monocytogenes. It may occur before birth, in which case meningitis is of early onset and has a rather poor prognosis. When it occurs later, the infection is a pathological consequence of physiological bacterial colonization, and its symptoms and prognosis are those of post-natal meningitis. Post-natal infections are facilitated by a pre-existing pathology or by prematurity. The responsible organisms (Gram-positive or Gram-negative bacteria, or yeasts) are often multiresistant. Advances in biology provide increasingly clearer explanation of the cerebral complications that determine the medium- and long-term prognosis. The variety of organisms and their frequent resistance to antibacterials make it necessary to use antibiotics that possess an exceptionally broad spectrum.
In a case of neonatal hypertension, radiographic findings showed multiple thromboembolism from the ductus arteriosis diverticulum. Hypertension was well controlled by captopril during the neonatal period. The long-term follow-up of 8 years with normal cardiovascular and renal function indicates a good prognosis for acquired renovascular neonatal hypertension.
Among 315 infants treated for respiratory distress syndrome (RDS) over a 2 year period, 32 prematures were studied retrospectively with the diagnosis of pulmonary interstitial emphysema (PIE). Eighteen died. In this group, birth weight below 1600 g, need for oxygen above 0.6 on the 1st day and appearance of bilateral pulmonary interstitial emphysema within the first 48 h of life were significant risk factors, with a mortality rate of 94%. In order to recognize one or more early criteria predictive of fatal PIE, we compared ventilation parameters on day 1 between neonates with fatal PIE and those with the same birth weight and initial severity of RDS but without PIE treated during the same period. High positive inspiratory pressure on day 1 was found to be the most significant parameter associated with further appearance of fatal pulmonary interstitial emphysema. A cut-off level of 26 cm H2O was found to be discriminant. These criteria may be useful in selecting those neonates who might best benefit from a new therapy such as high frequency ventilation, before irreversible lesions appear.
Follow-up studies of low birth weight infants concern usually infants selected on the basis of either the birthweight--inferior or equal to 1500 g--or the gestational age: the upper limit is 31 or 32 weeks. To determine the most pertinent criterium, mortality and neurodevelopmental outcome at two years were compared in 3 groups, selected on the above criteria from a cohort of 369 infants with a birthweight below 2,000 grams admitted in 1983 in the neonatal unit of the University hospital of Lille. Under 1501 grams the rate of small for gestational age infants is high: it could be a part of the explanation for the high rate of minor sequelae. When cohorts are selected on the basis of gestational age, it appears that mortality is low at 32 weeks but the rate of major and moderate sequelae is still high: that fact must be considered when premature induced delivery comes in discussion. Because these criteria select different high risk populations, mortality and neurodevelopmental follow-up studies should include all infants with gestational age inferior or equal to 32 weeks and/or birthweight inferior or equal to 1,500 grams.