Attenuated hepatic glucose production but unimpaired lipolysis in newborn infants of mothers with diabetes.

In infants of diabetic mothers, maternal-fetal hyperglycemia induces fetal hyperinsulinemia, which may be sustained for several hours after birth. The inhibitory effect of insulin on glycogenolysis, gluconeogenesis, and lipolysis increases the risk of hypoglycemia in these infants. Eight term infants of diabetic mothers were studied between 3.

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

Progressive familial intrahepatic cholestasis (PFIC) is the second most common form of familial intrahepatic cholestasis. The genes for PFIC and for a milder form of the disease, benign recurrent intrahepatic cholestasis (BRIC), were recently mapped to a 19-cM region on chromosome 18q21-q22. The results suggest that PFIC and BRIC are allelic diseases.

Natural history of congenital complete atrioventricular block.

An update of studies on the natural history of congenital complete AV block is presented. A risk for heart failure, syncope, and sudden death is present at any age including fetal life. Unfavorable prognostic signs in utero are low and decreasing ventricular rate (VR), hydrops, AV valve regurgitation, and low aortic flow velocity.

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.

Diamond-Blackfan anaemia (DBA; MIM#205900) is a rare disorder manifested as a pure red-cell aplasia in the neonatal period or in infancy. The clinical hallmark of DBA is a selective decrease in erythroid precursors and anaemia. Other lineages are usually normal and the peripheral white blood cell count is normal.

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma-glutamyl cycle leads to a generalized glutathione deficiency. Clinically affected patients present with severe metabolic acidosis, 5-oxoprolinuria, increased rate of hemolysis and defective function of the central nervous system.

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.

Primary nocturnal enuresis (PNE), or bedwetting at night, affects approximately 10% of 6 year old children. Genetic components contribute to the pathogenesis and recently one locus was assigned to chromosome 13q. We evaluated the genetic factors and the pattern of inheritance for PNE in 392 families.

Diurnal plasma vasopressin and urinary output in adolescents with monosymptomatic nocturnal enuresis.

Plasma arginine vasopressin (AVP) levels, urinary flow and urine osmolality were investigated in a group of adolescents (20 boys and 5 girls), aged 11-21 y, with severe monosymptomatic nocturnal enuresis and a control group of healthy adolescents (16M and 4F) with similar age- and sex-distribution. Half of the control group was investigated twice, with an interval of 6 months. AVP samples were taken every fourth hour in all adolescents and half of the control group were also investigated every second hour to achieve more samples during controlled sleep.

Vascular reactivity and platelet aggregability during the first five years of insulin-dependent diabetes in children.

Skin microvascular reactivity and platelet aggregation in response to collagen and adenosine diphosphate (ADP) was studied prospectively in a population-based cohort of children with newly acquired type 1 diabetes mellitus (IDDM), who have now been followed up longitudinally for 5 years. The skin microvascular vasodilation in response to ischaemia was recorded by means of transcutaneous oximetry at 37 degrees C and compared with that in a control group of 58 healthy children. Platelet aggregation was compared with 42 healthy control children.

Serum magnesium and protein concentrations during the first five years of insulin-dependent diabetes in children.

Thirty-four children were followed up prospectively for 5 years from the onset of diabetes regarding serum magnesium, zinc and some proteins. Serum magnesium decreased to significantly lower values (0.76 +/- 0.

Growth and subcutaneous fat during the first five years of insulin-dependent diabetes in children.

Thirty-four children were observed prospectively during a period of 5 years from the onset of diabetes regarding height, weight and subcutaneous fat in relation to treatment and diabetes control. Height, weight and body mass index (BMI) did not differ from those in a control group. The girls with diabetes increased their triceps and subscapular fat significantly despite a normal BMI.

Clinical characteristics of insulin-dependent diabetes mellitus in children at diagnosis.

The clinical characteristics of 60 consecutive children < 16 years in a Swedish county with newly diagnosed diabetes mellitus, are described. Twenty-four of them were 5.0-9.

Assessment of cognitive function. A study with the Swedish version of the Kaufman Assessment Battery for Children.

The Kaufman Assessment Battery for Children (K-ABC) is a test that measures cognitive function in children. A Swedish version has been produced for use as a research instrument in a longitudinal follow-up study of children that needed neonatal intensive care at the Uppsala University Children's Hospital, Sweden. A study using this Swedish version was carried out in 26 healthy children 10 years of age attending a primary school in Uppsala, Sweden.

External rotational positioning of the leg after intertrochanteric combined varus-derotational osteotomy in Perthes' disease.

A 13-year-old boy underwent an intertrochanteric combined varus derotational osteotomy (VDO) for Perthes' disease of his right hip. After surgery he walked with his right leg externally rotated. Computed tomography scans of both knees and hips were obtained with the legs in their spontaneous position to evaluate rotation and anteversion.

Glycerol carbon contributes to hepatic glucose production during the first eight hours in healthy term infants.

The newborn infant must mobilize endogenous substrate stores to meet the requirements of glucose-dependent organs. High concentrations of free fatty acids and glycerol, and a rapid decrease in the respiratory quotient, indicate that lipids are an important fuel soon after birth. The purpose of the present study was to determine the onset of lipolysis and gluconeogenesis from glycerol in healthy, term, unfed infants.

Extremely preterm infants (< 28 weeks) are capable of gluconeogenesis from glycerol on their first day of life.

Extremely preterm infants have been shown capable of producing glucose at a rate comparable to that of term infants, but virtually no data are available on their capacity for lipolysis and gluconeogenesis. To address this issue, we studied the flux of glycerol and its gluconeogenic contribution to hepatic glucose output by determining the endogenous plasma appearance rate of glycerol (glycerol Ra) and its conversion to glucose in 10 newborn infants, 24-27 wk of gestational age. The study was performed during the 1st d of life by tracer dilution technique using [6,6-2H2]glucose and [2-13C]glycerol given as constant rate i.

Growth and pubertal development in Down syndrome.

Growth retardation and gonadal insufficiency are well-known features of Down syndrome. In this longitudinal study, 44 home-reared children and adolescents with Down syndrome, aged 10-24 years, living in the county of Uppsala, were followed yearly. The male patients had a mean final height above that reported previously, and a close correlation between target and final heights was found.

Increased perinatal intracranial pressure and prediction of early puberty in girls with myelomeningocele.

An increased risk of developing precocious puberty has been reported in children with myelomeningocele. In order to evaluate this further and to study factors associated with early or precocious puberty the medical records of all girls with myelomeningocele, born from 1970 onwards (n = 64), who were admitted to our unit were reviewed. Early/precocious puberty (E/PP) was defined as breast development or pubic hair corresponding to Tanner stage 2 before the age of 9.

The development of autonomic innervation in bone and joints of the rat.

The development of autonomic nerves in the hindlimb skeleton, was studied in rats from gestational day (G) 15 to postnatal day (P) 24 by immunoreactivity to neuropeptide Y (NPY) and vasoactive intestinal peptide (VIP). Control labelling with antisera to neurofilaments, protein gene-product 9.5 (PGP 9.

Structured observation of motor performance (SOMP-I) applied to preterm and full term infants who needed neonatal intensive care. A cross-sectional analysis of progress and quality of motor performance at ages 0-10 months.

A new protocol for Structured Observation of Motor Performance in Infants, SOMP-I, designed to describe both progress and quality of motor performance, was evaluated concerning its ability to describe and to discriminate between the motor performance observed in different groups of infants. Sixty-eight infants born at < 32 completed weeks (c.w.