[Radiologic demonstration of the valves of the posterior urethra].
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Biomedical subjects
Publications and source records attributed to G Verellen.
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A typing scheme for Clostridium difficile based on serogrouping, toxigenicity and sorbitol fermentation was applied to 270 strains isolated in one neonatal ward during a 6-month prospective study. Two hundred and twenty-three strains were isolated from 377 faecal samples of 114 neonates and 47 from 92 environmental specimens. The isolates were distributed among five different types; 87% of the faecal and 85% of the environmental isolates belonged to two of these types (toxigenic, sorbitol negative, serogroup F and nontoxigenic, sorbitol positive, serogroup A). Nosocomial spread was clearly demonstrated and the environment appeared to be the main source of contamination: most of the neonates were colonized after admission by strains found in their environment; clusters of colonization with unusual isolates were observed following referral of patients from the intensive care unit or from other hospitals. No relation was found between the acquisition or the carriage of C. difficile and any intestinal symptoms. All the strains belonged to types different from those usually found in cases of antibiotic associated colitis (AAC) suggesting differences of pathogenicity among the different types.
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The study of four cloverleaf skulls (two fetuses, one infant, and a young adult) concerns two Pfeiffer syndromes, a thanatophoric dysplasia and an isolated case. Clinical and radiologic examinations showed malformations at the level of the calvarium, the base, orbital cavities, and, sometimes, limb abnormalities. Correlations between these findings and the microradiographic analysis of nondemineralized sections elucidate this trilobular appearance of the skull. Premature temporoparietal suture closure terminates at a constricted surface of the lateral sides of the skull during the fetal life. Extension of the synostosis to coronal and frontal sutures and thickening of the occipital bone squama block lengthening of the skull. The consecutive reduction in skull volume is compensated by the maintenance of the permeability during the neonatal period of the sagittal and lambdoid sutures. Microradiographic examination shows that this anomaly may be of vascular origin and associated with abnormal osteoclastic resorption.
Over a 5-year period, 75 patients were admitted to a pediatric intensive care unit because of acute upper airway obstruction (AUAO). Congenital abnormalities were demonstrated in 25 children; 9 of them died secondary to severe combined malformations or major central nervous system dysfunction. Acquired AUAOs were seen in 50 patients; 1 died in brain death secondary to anoxia. Obstructions were observed at all levels of the airways from the nose to the carina. In 28% of the patients, AUAO had remained undiagnosed until admission for complications such as acute respiratory failure, cardiac arrest, coma, seizures. With early diagnosis and prompt release of the obstruction the prognosis is good unless severe congenital abnormalities or major central nervous system damage are associated.
Biologic, morphologic, and biochemical investigations performed in 2 patients demonstrate multiple peroxisomal deficiencies in the cerebrohepatorenal syndrome of Zellweger (CHRS) and neonatal adrenoleukodystrophy (NALD). Very long chain fatty acids, abnormal bile acids, including bile acid precursors (di- and trihydroxycoprostanoic acids), and C29-dicarboxylic acid accumulated in plasma in both patients. Generalized hyperaminoaciduria was also present. Peroxisomes could not be detected in CHRS liver and kidney; however, in the NALD patient, small and sparse cytoplasmic bodies resembling altered peroxisomes were found in hepatocytes. Hepatocellular and Kupffer cell lysosomes were engorged with ferritin and contained clefts and trilaminar structures believed to represent very long chain fatty acids. Enzymatic deficiencies reflected the peroxisomal defects. Hepatic glycolate oxidase and palmitoyl-CoA oxidase activities were deficient. No particle-bound catalase was found in cultured fibroblasts, and ether glycerolipid (plasmalogen) biosynthesis was markedly reduced. Administration of phenobarbital and clofibrate, an agent that induces peroxisomal proliferation and enzymatic activities, to the NALD patient did not bring about any changes in plasma metabolites, liver peroxisome population, or oxidizing activities.
Out of our last 70 cases of esophageal atresia, a circular myotomy of the upper pouch (Livaditis technique) was required in six patients to achieve an end-to-end anastomosis: all had a lower tracheoesophageal fistula. They were operated on between 15 and 96 hours after birth, without any preoperative attempt of elongation of the upper pouch. Follow-up ranged from 14 to 77 months. Three patients had an uneventful postoperative course and late outcome, despite a moderate ballooning at the myotomy site in one. Three babies developed a mild stricture which responded easily to a few dilatations. Asymptomatic ballooning at the myotomy site was observed in one baby; the other two developed a diverticulum responsible for acute respiratory distress in one case and severe dysphagia in the other. both required esophageal replacement. These observations call attention to the fact that patients treated by myotomy should be followed very carefully early and late, especially if an anastomotic stricture develops or in case of associated tracheomalacia.
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By the combination of energy and macronutrient balances, continuous open circuit computerized indirect calorimetry, and anthropometry, we have compared small for gestational age (SGA) and appropriate for gestational age (AGA) very low birthweight infants with respect to metabolizable energy intake (mean +/- SE: 125.9 +/- 2.5 versus 130.4 +/- 3.5 kcal/kg X day), energy expenditure (67.4 +/- 1.3 versus 62.6 +/- 0.9 kcal/kg X day), storage of energy and macronutrients and growth. Fourteen studies in six SGA infants (gestational age, 33.1 +/- 0.3 weeks; birthweight, 1120 +/- 30 g) and 22 studies in 13 AGA infants (gestational age, 29.3 +/- 0.4 weeks; birthweight, 1155 +/- 40 g) were performed. The SGA infants had a lower absorption of fat (68.7 +/- 3.2 versus 79.7 +/- 1.7%) and protein (69.1 +/- 3.2 versus 83.4 +/- 1.5%) and hence increased (P less than 0.001) energy loss in excreta (29.9 +/- 2.8 versus 18.2 +/- 1.5 kcal/kg X day). The significant hypermetabolism of SGA infants by 4.8 kcal/kg X day was associated with an increased fat oxidation. Despite lower energy storage, SGA infants were gaining weight (19.4 +/- 0.9 g/kg X day), length (1.25 +/- 0.14 cm/week), and head circumference (1.16 +/- 0.9 cm/week) at higher rates than the AGA group. The energy storage per g weight gain was lower (P less than 0.001) in the SGA group (3.0 +/- 0.14 versus 4.26 +/- 0.26 kcal) reflecting higher water, lower fat (22.2 +/- 1.8 versus 33.8 +/- 2.5%; P less than 0.001) and lower protein (7.7 +/- 0.5 versus 12.5 +/- 0.8%; P less than 0.001) contents of weight gain in the SGA group.
With the renewed interest in the feeding of human milk to preterm infants, we have evaluated the partition of energy metabolism and of macronutrient utilization and accretion in growing very low birth weight infants fed their own mother's milk. Fifteen studies combining macronutrient balance, computerized continuous open-circuit indirect calorimetry, and anthropometric measurements were performed in 11 growing, very low birth weight (less than 1.300 gm) preterm infants. The mean milk intake of 172 ml/kg/day provided a gross energy intake of 111 kcal/kg/day. Energy losses in excreta were 11 kcal/kg/day, and the metabolic energy expenditure was 56 kcal/kg/day. The remainder (44 kcal/kg/day) represented the energy stored in the components of new tissue. The infants were gaining weight (15.3 g/kg/day), length (0.98 cm/wk), and head circumference (0.76 cm/wk) at rates approximating intrauterine growth rates. The metabolic energy expenditure was derived from the oxidation (mean +/- SE) of carbohydrate, 9.5 +/- 0.7 gm/kg/day; fat, 1.63 +/- 0.34 gm/kg/day; and protein, 0.68 +/- 0.07 gm/kg/day. The stored energy comprised 2.98 +/- 0.86 gm/kg/day as carbohydrate, 2.25 +/- 0.54 gm/kg/day as fat, and 1.97 +/- 0.1 gm/kg/day as protein. The accretion rates of fat and protein, as well as the composition of the weight gain (fat, 16.6 +/- 4.1%; protein, 13.4 +/- 0.5%), were similar to those reported for the fetus of comparable gestational age.
A comparison has been made of the influence of feeding own mother's milk and formula on the oxidation and accretion of energy and macronutrients in the growing preterm infant of very low birth weight (less than 1,300 g) by using the combined techniques of nutrient balance and computerized indirect calorimetry. There were 22 studies in formula-fed infants and 15 studies in premature infants fed own mother's milk. Despite their lower metabolizable energy intake, the infants fed own mother's milk grew in weight, length, and head circumference at a rate approximating those of the formula-fed group. The metabolic rate was significantly lower in the infants fed own mother's milk (56.0 +/- 0.9 v 62.6 +/- 0.8 kcal/kg/d; P less than .001). The protein intake, oxidation, and accretion were similar in the two groups. The infants fed own mother's milk had a significantly lower fat intake (P less than .001), higher fat oxidation (P less than .025) and consequently lower fat accretion (P less than .001) than the formula-fed infants. The proportional fat content of the daily weight gain was lower in the infants fed own mother's milk (16% v 33%; P less than .001) but protein content was similar (13% v 12%). The accretion of energy, fat, and protein correlated with the respective metabolizable intakes in both groups (r = .81 to .98; P less than .001), suggesting that accretion rates and hence composition of weight gain are dependent on levels of energy and macronutrient intake.
We found at postmortem examination the association of bilateral renal agenesis and of apparently complete Di George syndrome in an infant whose mother was diabetic. Vertebral abnormalities and hallux duplication were present as well. There is a correlation between maternal diabetes and the bilateral renal agenesis-caudal dysplasia complex on one hand, and maternal diabetes and cardiac malformations on the other hand. Moreover, it has been suggested that the absence of thymus and parathyroids in Di George syndrome is causally linked to the cardiac malformation. Therefore we suggest that the association in our case is not coincidental; both sets of malformations may be due to the maternal diabetes.
To compare the growth and accumulation of protein, fat, and carbohydrate in the formula-fed premature infant and in the fetus of a similar postconceptional age, we performed 22 metabolic studies in 13 infants of very low birth weight (1155 +/- 39 g [mean +/- S.E.]). Measurements combining nutritional balance and indirect calorimetry demonstrated the deposition rates of protein and fat. We found that the formula-fed, very-low-birth-weight infant who gained weight comparably to the fetus retained the same amount of protein (1.92 +/- 0.1 g per kilogram of body weight per day) but accumulated fat at a rate of 5.4 +/- 0.3 g per kilogram per day - about three times that in the fetus, as confirmed by increased skin-fold thickness. How this change in body composition affects the future growth of formula-fed premature infants, and how body composition is altered by other dietary regimens such as the provision of human milk, remain to be determined.
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We describe a case of giant congenital melanocytic nevus with placental villous involvement in an otherwise uncomplicated pregnancy. Only four similar cases have been reported in the world literature. Nevomelanocytes were found in both villous stoma and fetal capillaries. No neonatal or maternal adverse effects were observed 5 years after diagnosis in the present case.