Helvetica paediatrica acta最新文献

The choice of treatment, the importance of chemoprophylaxis in household contacts and the potential impact of immunization with vaccines against Haemophilus influenzae type b (Hib) currently under investigation are discussed on the basis of the patients hospitalized for invasive Hib infections at the University Children's Hospital Geneva from 1976 to 1985. Among 122 culture-proven infections due to Hib, there were 41% of cases of meningitis, 37.7% of epiglottitis, 9.8% of pneumonia, 5.7% of septicemia, 3.3% of cellulitis and 2.4% of septic arthritis. From 1981 to 1983, one strain of Hib produced beta-lactamase, but between 1984 and 1985, 5 strains (19.2%) produced beta-lactamase. Only one case of possible horizontal transmission of the infection was found in this 10-year period. We conclude that 1. the appearance of beta-lactamase producing strains of Hib requires that treatment be initiated with an antimicrobial agent resistant to beta-lactamase when a Hib infection is suspected; 2. in our region, only one case of an invasive Hib infection could theoretically have been prevented by chemoprophylaxis; and 3. the calculated theoretical impact of vaccination with the new types of vaccines against Hib could have prevented 106 of 122 cases of invasive Hib infections.

Fifty-five consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.

Sports are very important to young people, and the physical and psychological benefits of athletic activities are well known. A majority of epileptic children are able to participate in sports and physical education and have to be encouraged to take part in these activities. The risks involved are minimal, and only few sports and exercises have to be avoided. A well documented danger of drowning exists while swimming, and proper supervision is mandatory.

In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.

We are investigating metabolism and morphological differentiation of the developing brain in neonates and children under non-invasive conditions combining MR imaging (MRI) with spectroscopy (MRS) on a high-field/small-bore (2.35 Tesla/40 cm) system. By the end of 1987, 116 neonates, infants and young children with various perinatal problems, congenital abnormalities and different neurological diseases have been examined with MRI. In addition, MRS studies were subsequently performed on 46 of these children using the same instrument and within the same session. The small, sometimes very sick and instable patients require careful monitoring and elaborate technical devices in the high magnetic field. We are presenting solutions for methodological and technical developments and adaptations, concepts for sedation and measurement protocols in various age groups and first results of the combined use of MRI and MRS to investigate the brain in neonates and infants.

A very unusual case of Wilms tumor in a child with Wiedemann-Beckwith syndrome is presented. The patient had his first metastasis after a disease-free interval longer than three years. Later, he developed spinal epidural involvement. Both data emphasize the oncogenic potential of Wiedemann-Beckwith syndrome in children and support the contention that Wiedemann-Beckwith syndrome worsens the prognosis of Wilms tumor. Patients with Wilms tumor associated to Wiedemann-Beckwith syndrome should receive intensive therapy as well as close and prolonged follow-up in spite of apparent tumor remission.

A preterm infant with isolated transudative ascites caused by Toxoplasma gondii is described. In the absence of obvious congenital malformations, toxoplasmosis should be considered in the differential diagnosis of fetal and neonatal non-immune ascites.

The long-acting somatostatin analogue SMS 201-995 was administered to a six-month-old infant with intractable diarrhea after failure of conventional treatment. During eight weeks of treatment, the secretory component of the diarrhea was positively influenced with a reduction of daily stool weight and stool sodium concentration. Plasma levels of growth hormone were markedly, and levels of insulin, IGF I, gastrin, pancreatic polypeptide, VIP, and neurotensin moderately decreased. Linear growth was also inhibited. The patient unexpectedly died from fulminant colitis at a time, when the dosage had been reduced from 18 to 3.5 micrograms/kg/day. The relationship, if any, between therapy with SMS 201-995 and the colitis remained unclear. It is concluded that SMS 201-995 can be effective in reducing secretory diarrhea in infants. However, further studies are necessary to assess the safety of its administration in this age group.

Mortality and long-term outcome in low birthweight infants (less than or equal to 1500 g) treated in the neonatal intensive care unit of the Department of Pediatrics of the University of Padua in 1975, 1978/79, and 1983 were analysed. Mortality rates fell from 75% in 1975 to 58% in 1978/79 and to 33% in 1983. Incidence of sequelae decreased from 1975 to 1978/79 and did not change between 1978/79 and 1983. No perinatal pathology (RDS, hyperbilirubinemia, endocranial hemorrhage) was statistically related with long-term outcome, but some associations (RDS + endocranial hemorrhage + seizures) appeared more frequently in cases which presented major neurological sequelae.