[Invasive pneumococcal infections in children from Troms, Nordland and Sor-Trondelag 1980-95]. / Invasive pneumokokkinfeksjoner hos barn fra Troms, Nordland og Sør-Trøndelag 1980-95.

Invasive pneumococcal infections may be severe. We have examined epidemiology, risk factors and outcome of these infections. In the years 1980-95, 76 children below the age of 15 with invasive pneumococcal infections were admitted to the hospitals in the counties of Troms, Nordland and Sør-Trøndelag in Norway. The incidence rate in children 0-2 years old was 10.3 cases per 100,000 persons per year, and 1.8 in children 3-14 years. Of the patients 24 had meningitis and 52 bacteraemia. All bacteriological isolates were sensitive to benzylpenicillin. Seven patients died and five developed sequelae. Thirty-one of the children had risk factors prior to the infection. Children with hypo- or hyperventilation at the time of arrival, and/or impaired circulation fared worse than those with normal findings. Children with underlying risk factors have a much higher frequency of invasive pneumococcal infections than other children. Patients who had impaired circulation or ventilation on admission have a bad prognosis for healthy survival.

Increased serum concentrations of soluble tumor necrosis factor receptors p55 and p75 in early onset neonatal sepsis.

Sepsis and pneumonia are major causes of morbidity and mortality in the neonatal period. The symptoms are variable and unspecific. So far, no reliable diagnostic test for neonatal infection has been found. In this study we measured serum levels of soluble tumor necrosis factor receptors (sTNFR) p55 and p75 in non-infected and infected neonates, and evaluated the diagnostic value of these mediators as tests for early detection of neonates with sepsis or pneumonia. Blood was collected on admission and after 3-4 days from 161 neonates consecutively admitted to the Neonatal Intensive Care Unit (NICU) during the first week of life. Twenty two neonates suffered from infection and 127 were classified as non-infected (controls). Samples were analyzed for p55 and p75, C-reactive protein (CRP) and white blood cell count with differential. Both preterm and term infected neonates had initially higher concentrations of p55 (both p <0.01) and p75 (p = 0.01 and p = 0.05, respectively) than controls. In non-infected neonates p55 levels decreased in the perinatal period, whereas p75 levels remained stable. Levels of both p55 and p75 decreased in neonates with infection during the perinatal period. CRP was a more specific parameter than p55 and p75 (CRP: 97%, p55: 65% and p75: 75%) whereas the sensitivity of all three parameters was at similar levels (CRP: 59%, p55: 70% and p75: 67%). We conclude that assessment of sTNFR may not improve accuracy in the diagnosis of early onset neonatal sepsis compared to the use of CRP.

Interleukin-6 concentrations in neonates evaluated for sepsis.

OBJECTIVES: This study was performed to determine serum concentrations of interleukin-6 (IL-6) during bacterial infections in the first week of life and to evaluate the usefulness of IL-6 as a diagnostic test for perinatal bacterial infections, alone and in combination with C-reactive protein (CRP). STUDY DESIGN: Blood was obtained from 241 newborn children on admission to the neonatal intensive care unit and at 3 to 4 days after admission. Both samples were analyzed for IL-6, CRP, and white blood cell count with differential. RESULTS: Twenty-four newborns were classified as having an infection. Increased serum IL-6 levels were detected in infected compared with noninfected newborns on admission (p < 0.0001). Detection of IL-6 (> or = 20 pg/ml) alone yielded a sensitivity of 78%, a specificity of 71%, a positive predictive value of 40%, and a negative predictive value of 93%. A combined parameter of IL-6 (> or = 50 pg/ml) and CRP (> or = 10 mg/L) yielded a sensitivity of 96%, a specificity of 74%, a positive predictive value of 49%, and a negative predictive value of 99%. CONCLUSIONS: Used in combination with CRP, IL-6 seems to be a valuable parameter in the early diagnosis of neonatal infections.

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible for the Asn540Lys substitution in the region coding the tyrosine kinase domain have been reported. Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia. The substitution is found in a swedish family with three affected members. The criteria for hypochondroplasia were disproportionate short stature and radiological evidence of shortened long bones and decrease or absence of normal increase in interpedicular distances of the lumbar column. The mutation was detected by direct sequencing and restriction enzyme Tai I digestion. The base change was not found in the FGFR3 genes of unaffected members of the family nor in seventy-five unrelated unaffected individuals, suggesting that it was not a polymorphism. The Ile538Val substitution is a conservative amino acid change (a hydrophobic amino acid incorporated for another hydrophobic amino acid). Nevertheless, it is located in the stretch of nine amino acids, which is highly conserved among all the human fibroblast growth factor receptors. Considering the location of this substitution and the segregation with the phenotype in this family, we propose that it is a causative mutation of hypochondroplasia. It is difficult to establish whether the Ile538Val substitution is rare in hypochondroplasia patients or whether the individuals, who have a moderate degree of short stature, rarely seek medical help for the short stature and consequently are rarely diagnosed as affected by hypochondroplasia.

Infections in neonates delivered at term are associated with increased serum levels of ICAM-1 and E-selectin.

All newborn infants consecutively admitted to the Neonatal Intensive Care Unit (NICU) at the University Hospital of Trondheim during 1993 were eligible to participate in the study. In total, 241 neonates were included, for whom anamnestic, clinical and laboratory characteristics were recorded. Peripheral blood was retrieved at admittance, and serum levels of soluble intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) and E-selectin were determined. Newborn infants were classified as infected or non-infected according to selected criteria, and 24 newborn infants fulfilled the criteria of having an infection, whereas 168 newborn infants were classified as non-infected. ICAM-1, VCAM-1 and E-selectin were detected in all neonatal samples. Serum concentrations of E-selectin varied by gestational age (GA), higher levels were found in non-infected term (GA > or = 37 weeks) neonates (n = 53) than in those (n = 115) delivered prematurely (GA < 37 weeks) without infection (p < 0.0001), whereas ICAM-1 and VCAM-1 concentrations did not differ between groups of non-infected term and preterm newborn infants. Similarly, newborn infants delivered at term (n = 16) demonstrated higher levels of E-selectin than premature infants (n = 8) in association with infection (p < 0.001). Both ICAM-1 and E-selectin were increased in term newborn infants with infection (n = 16) compared to the non-infected term group (n = 53) (both p < 0.01), whereas VCAM-1 concentrations did not differ between the two groups. In the premature groups of infected (n = 8) and non-infected (n = 115) neonates, no differences in ICAM-1, VCAM-1 and E-selectin concentrations were observed. The use of ICAM-1 concentration (cut-off level: 250 micrograms l-1) as a diagnostic test for infection in term neonates yielded a sensitivity of 80% and a specificity of 61%, whereas a sensitivity of 70% and a specificity of 79% were found when E-selectin concentration (cut-off level: 150 micrograms l-1) was used. Conclusively, increased shedding of soluble ICAM-1 and E-selectin is one component of infection-induced neonatal immune response after full-time pregnancies. Our data suggest that the ability of increased shedding of soluble ICAM-1 and E-selectin molecules is developed during the final weeks of pregnancy. Assessment of ICAM-1 and E-selectin concentrations may be used as diagnostic tools with a high sensitivity and a moderate specificity in term neonates suspected of infection.

[The incidence of acute complications in children with diabetes mellitus]. / Insidensen av akutte komplikasjoner hos barn med diabetes mellitus.

The incidence of acute complications in children with diabetes mellitus was investigated from April 1992 to April 1993. During this period 27 of 66 children (40%) had experienced at least one episode of serious hypoglycemia, and six (9%) had been hospitalized because of hyperglycemia or ketoacidosis. Children whose parents were divorced or single, experienced more episodes of serious hypoglycemia than children of married or cohabitant parents. The children who had experienced serious hyperglycemia or ketoacidosis had higher HbA1c, used a relatively higher daily dose of insulin and were older than the other children.

[Diabetes mellitus in children. Therapeutic control, social conditions and self care]. / Diabetes mellitus hos barn. Behandlingskontroll, sosiale forhold og egenomsorg.

We present a descriptive study of children with diabetes mellitus in Sør-Trøndelag county. The study included 66 children. Eight of these children had at least one other chronic disease in addition to diabetes. 31 children used more than two insulin injections daily. The median value of HbA1c was 8.6%. HbA1c was positively correlated with duration of diabetes. However, for the children who were out of remission, HbA1c was positively correlated with age and negatively with number of meals per day. Children whose parents were divorced or single had higher HbA1c than children whose parents were married or lived together. HbA1c was also higher among children who received special lessons at school than among children who did not receive such lessons. Thus, age, duration of diabetes and psychosocial factors were the most important determinants for metabolic control in our study.