bluuebunny/crossref_metadata_2025 huggingface dataset:
Characteristics of children with idiopathic short stature in the Kabi Pharmacia International Growth Study, and their response to growth hormone treatment
Authors: Albertsson‐Wikland K ,   Kabi Pharmacia International Growth Study
Published: January 2008

The auxological characteristics and the response to growth hormone (GH) treatment of children with idiopathic short stature were studied, using the database of the Kabi Pharmacia International Growth Study. Pretreatment data from a total of 271 children were analysed. The children were selected for a birth weight above ‐2 SDS. The correlation coefficient of birth weight SDS and birth length SDS was 0.51, compared with 0.72 for the reference population. Median length at birth was ‐0.6 SDS, which fell to ‐2.5 SDS by 3 years of age. Thereafter, there was no further loss in height SDS. The response to GH treatment was studied in 222 of these prepubertal children who were given six or seven injectiodweek over a 3‐year period. During this time, the median height SDS increased from ‐2.5 to ‐1.5, with those children receiving more than 0.65 IU/kg/week having a greater gain in height SDS than those on 0.5 IU/kg/week or less. The degree of bone age delay did not appear to influence the response to GH therapy.
Prediction of the growth response in children with various growth disorders treated with growth hormone: analyses of data from the Kabi Pharmacia International Growth Study
Authors: Ranke MB , Guilbaud O , Lindberg A , Cole T ,   Kabi Pharmacia International Growth Study
Published: January 2008

Analyses to predict the growth response to recombinant human growth hormone (GH) in prepubertal children during the first year of treatment were performed on data from 472 patients with idiopathic GH deficiency (IGHD), 202 children with Turner's syndrome, 327 children with idiopathic short stature (ISS) and 135 children with intrauterine growth retardation (IUGR). In IGHD, 56% of the variability of the response could be predicted from a model based on six variables. These variables could be ranked in order of importance as follows: target height SDS minus height SDS, chronological age, frequency of GH injections, dose of GH, weight‐for‐height index, and birth weight SDS. When the model for IGHD was applied to Turner's syndrome, ISS and IUGR, there was a high degree of similarity between the predicted and achieved growth response in ISS and IUGR. However, an uneven distribution within the plot of Studentized residuals in ISS and IUGR suggested heterogeneity within these populations. Prediction of growth in Turner's syndrome was greatly exaggerated by the model for IGHD, suggesting a different pathogenesis as the basis of the growth disorder. Specific prediction models were therefore developed for Turner's syndrome, ISS and IUGR. In all three disorders, the dose of GH was found to be the most important predictor, suggesting that, in contrast to IGHD, first‐year growth is governed less by the difference between height and the presumed genetically determined target height. Again, in contrast to IGHD, this suggests that catch‐up phenomena are not involved. As the predictability of the variation in growth response in Turner's syndrome, ISS and IUGR did not exceed 32% (for ISS), the search for new predictors should continue in these disorders.
Significance of measurement of pre‐S2 antigen for the prevention of vertical transmission of hepatitis B virus in infants born to HBsAg carrier mothers
Authors: Terazawa Sousuke , Kondo Naomi , Orii Tadao
Published: January 2008

Terazawa S, Kondo N, Orii T. Significance of measurement of pre‐S2 antigen for the prevention of vertical transmission of hepatitis B virus in infants born to HBsAg carrier mothers. Acta Pædiatr 1994;83:30–4. Stockholm. ISSN 0803–5253

The significance of pre‐S2 antigen (pre‐S2 Ag) as a marker of hepatitis B virus (HBV) infection, especially in infants born to HBsAg carrier mothers who are HBeAg‐negative or HBeAg‐positive, was evaluated. Pre‐S2 Ag was measured by enzyme immunoassay. HBsAg carrier mothers who were HBeAg‐negative and HBeAb‐positive were divided into two groups: group A, mothers whose infants were not infected with HBV (n =10) and group B, mothers whose infants were infected with HBV (n= 13). Absorption rates of pre‐S2 Ag in group A and B were 0.09 k 0.04 and 1.36 ± 0.95, respectively. The values for pre‐S2 Ag in group B were significantly higher than those in group A. Values for pre‐S2 Ag among HBsAg carrier mothers who were HBeAg‐positive and HBeAb‐negative were also measured by reversc passive hemagglutination. In the same way, HBsAg carrier mothers who were HBeAg‐positive and HBeAb‐negativc were divided into two groups: group C, mothers whose infants did not become HBsAg carriers (n =15) and group D, mothers whose infants became HBsAg carriers (n = 11). The titers of pre‐S2 Ag (reverse passive hemagglutination) in group C and D were 25.75 ± 1.68and 210.45±1.69, respectively. The values for pre‐S2 Ag in group D were significantly higher than those in group C. The values for pre‐S2 Ag as markers of infectivity became higher with increasing amounts of HBV‐DNA. Therefore, our results show that measurement of pre‐S2 Ag in HBsAg carrier mothers who are HBeAg or HBeAb‐positive is useful in the detection of high‐risk groups of vertical transmission of HBV.
Infective endocarditis in newborn infants with structurally normal hearts
Authors: Mecrow IK , Ladusans EJ
Published: January 2008

Mecrow IK, Ladusans EJ. Infective endocarditis in newborn infants with structurally normal hearts. Acta Pædiatr 1994;83:35–9. Stockholm. ISSN 0803–5253.

Twelve infants with structurally normal hearts were demonstrated to have intracardiac vegetations on echocardiography and diagnosed as having infective endocarditis. All were found in the right side of the heart, most frequently at the junction of the superior vena cava and the right atrium and in no case involved the tricuspid or pulmonary valves. Most were diagnosed in the course of investigation of repeatedly positive blood cultures, despite appropriate antibiotic therapy. Coagulase‐negative staphylococci were isolated from blood culture in nine infants, and Streptococcus sanguis and Candida albicans from one each. All infants had had intracardiac central lines inserted to facilitate venous access, either by a percutaneous technique or as a formal surgical procedure. Eight (67%) were successfully treated and made a full recovery. Cardiac murmurs were absent in all of the cases. Echocardiography should be included in the investigation of all neonates with persistently positive blood culture, particularly when intracardiac lines have been sited. Right‐sided, non‐valvar lesions and infection with coagulase‐negative staphylococci may carry a better prognosis than previously reported.
Interpretation of random urinary catecholamines and their metabolites in neuroblastoma
Authors: O'Meara A , Tormey W , FitzGerald RJ , Fitzgibbon M , Kenny D
Published: January 2008

O'Meara A, Tormey W, Fitz Gerald RJ, Fitzgibbon M, Kenny D. Interpretation of random urinary catecholamines and their metabolites in neuroblastoma. Acta Paediatr 1994;83:88–92. Stockholm. ISSN 0803–5253

This study reports experience in the estimation of urinary catecholamines (uCATs) and their metabolites in the diagnosis and follow‐up of neuroblastoma. Random urine samples were assayed for dopamine, noradrenaline and adrenaline, together with their metabolites 4‐hydroxy 3‐methoxyman‐delic acid (HMMA) and homovanillic acid (HVA), using HPLC with electrochemical detection. Twenty of 21 patients had elevation of one or more uCATs metabolites at diagnosis. Patients were monitored serially from diagnosis and, in those patients who had delayed resection of primary tumour (n=13), particular attention was paid to levels at the pre‐surgical evaluation as an indicator of persistence of viable disease at the time of surgery; dopamine proved to be the most accurate indicator of persistent disease at this time. Five of these patients developed recurrent disease, 4 of whom had elevation of two or more uCATs metabolites at the time of relapse. Several conclusions can be drawn from this study: (a) results for HMMA, HVA and dopamine in random urine samples will detect all but the most biochemically immature or inert tumours; (b) dopamine may be the most reliable indicator of persistent disease and (c) noradrenaline and adrenaline measurements were of little benefit. As results are Expressed in relation to urinary creatinine, excretion of which may be affected by dietary protein and is therefore not constant, borderline results should be repeated.
Treadmill exercise in Neapolitan children and adolescents
Authors: Maffulli Nicola , Greco Raffaele , Greco Luigi , D'Alterio Doriana
Published: January 2008

Maffulli N, Greco R, Greco L, D'Alterio D. Treadmill exercise in Neopolitan children and adolescents. Acta Pædiatr 1994;83:106–112. Stockholm ISSN 0803–5253

Two hundred and eighty healthy children from Naples, Italy (140 boys and 140 girls) aged 4–17 years were studied using Bruce walking treadmill protocol to voluntary exhaustion. Endurance time and double product increased with age. Systolic blood pressure increased linearly during the test. Multivariate analysis showed that body weight and age were the best predictors of endurance time. Endurance time averaged 15.2 ± 2.8 min in boys and 13.7 ± 2.3 min in girls (p= 0.0001). Mean±SD double product at peak exercise was 264.3 ± 63 (boys) and 242 ± 44 (girls) (p = 0.01). Sinus arrhythmia was present in 78% of the children and disappeared at a mean heart rate of 112 ± 16 beats/min during exercise. The voltage of the R wave on V4 lead decreased in all but four children during the test (delta R= ‐0.25±0.24 mV). The P and T waves increased in almost all children. No ST depression or upward sloping was detected. The voltage of the PR isoelectric line remained constant. The J point was displaced downwards in 78% of children, unchanged in 11% and displaced upwards in the remaining 11% of the children. The present study gives reference parameters for a walking treadmill test in Southern European children.
Aminohydroxypropylidene‐biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3
Authors: Bembi B , Agosti E , Boehm P , Nassimbeni G , Zanatta M , Vidoni L
Published: January 2008

Bembi B, Agosti E, Boehm P, Nassimbeni G, Zanatta M, Vidoni L. Aminohydroxypropylidene‐biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3. Acta Pædiatr 1994;83:122–4. Stockholm. ISSN 0803–5253

Gaucher disease is the most prevalent lysosomal storage disorder. It is characterized by an autosomal recessive inheritance of a deficiency of lysosomal acid glucocerebrosidase. Three clinical phenotypes are recognized: type 1 (non‐neuronopathic), type 2 (acute neuronopathic), type 3 (subacute neuronopathic). Bone lesions are associated with type 1 and type 3 Gaucher disease. Skeletal involvement is secondary to the progressive accumulation of histiocytes and macrophages laden with glucosylceramide in bone marrow. Our patient was a female type 3 Gaucher patient who was referred to us at the age of 3 years with a neurological symptomatology and severe bone lesions (bilateral fracture of the femur heads, lytic process of the bone matrix of the femurs and distal flask deformity, kyphoskoliosis and chest deformity). The baby was constrained to a wheel‐chair. The use of (3‐amino‐1‐hydroxypropylidene)‐1,1‐biphosphonate (APD) was described in a case of Gaucher disease with very severe bone lesions. We used periodic iv infusions of APD (10 mg every 3 weeks) in our patient for a period of 20 months; after that, enzyme replacement therapy (alglucerase) was commenced. APD treatment showed normalization of bone density, formation of bone callus at the femural heads, positive calcium balance. The urinary Ca/Cr ratio and TRP were consistently normal during therapy. After 9 months of algucerase therapy the patient was able to walk again. The data indicate that APD therapy can find an indication in Gaucher patients with severe bone involvement.
Doppler echocardiographic assessment of changes in the central circulation of the fetal sheep induced by maternal oxygen administration
Authors: Sonesson S‐E , Fouron J‐C , Teyssier G , Bonnin P
Published: January 2008

Eleven fetal sheep were studied to investigate if Doppler echocardiography could document redistribution of blood flow during maternal oxygen administration. Velocities through the pulmonary valve, aortic valve, common brachiocephalic trunk, aortic arch, descending aorta, umbilical and carotid artery were recorded before, during and after oxygen was delivered to the ewe by face mask. Indices of cardiac performance (shortening fraction, velocity of fiber shortening and systolic time intervals) were also obtained. The aortic arch was the only recording site where significant changes in mean velocity related to oxygen administration and withdrawal were demonstrated (p < 0.01). Changes in the velocity waveform suggesting an increase in cerebral vascular resistance during oxygen administration were found in the carotid artery. Thus, using Doppler velocimetry, the carotid artery and the aortic arch (equivalent to the human aortic isthmus) appear to be suitable sites to document changes induced by maternal oxygen administration.
Final height in girls with central precocious puberty: comparison of two different luteinizing hormone‐releasing hormone agonist treatments
Authors: Antoniazzi F , Cisternino M , Nizzoli G , Bozzola M , Corrias A , Luca F De , Sanctis C De , Rigon F , Zamboni G , Bernasconi S , Chiumello G , Severi F , Tatò L
Published: January 2008

In order to evaluate the effects of two long‐acting luteinizing hormone‐releasing hormone agonists on growth, bone maturation and final height in girls with central precocious puberty, we analyzed growth data from 40 girls (15 treated with buserelin intranasal spray (group A), 15 treated with triptorelin depot im every 28 days (group B) and 10 untreated (group C)). Patients in group A started treatment when chronological age (CA) was 7.7 ± 0.9 years, bone age (BA) was 10.2 ± 1.1 years and height was 131.9 ± 5.0 cm. Patients in group B started therapy when CA was 7.6 ± 0.5 years, BA 9.8 ± 1.0 years and height 133.2 ± 7.6 m. The diagnosis of untreated patients (group C) was made when CA was 7.2 ± 0.9 years, BA 9.6 ± 2.2 years and height 130.2 ± 8.6cm. Both luteinizing hormone‐releasing hormone agonists appeared to control precocious puberty. Final height in group B (160.6 ± 5.7 cm) was significantly higher than that of group A (153.2 ± 5.0 cm: p < 0.05) and group C (149.6 ± 6.3; p < 0.01), whereas the difference between groups A and C was not statistically significant. In group B a positive difference was observed between final height (160.6 ± 5.7 cm) and target height (157.6 ± 5.9 cm) (ns); on the contrary, in groups A and C, final height was lower than target height (155.5 ± 5.3 and 156.4 ± 1.3cm, respectively), but only in group C the difference was statistically significant (p < 0.01). The best results regarding final height obtained by slow‐release depot im therapy may be associated with more stable agonist blood levels during treatment.
Gastro‐oesophageal reflux and oesophageal dysfunction in children and adolescents with brain damage
Authors: Gustafsson PM , Tibbling L
Published: January 2008

The prevalence of pathological gastro‐oesophageal reflux (GOR) and oesophageal dysfunction (OD) was investigated in 32 children, 0.7–19 years of age (mean 11.2 years), with brain damage, mainly severe cerebral palsy and tetraplegia. They underwent 24–h pH monitoring in the distal oesophagus and oesophageal manometry. In addition, radiological examination of the oesophagus, chest radiography, blood counts and blood tests for iron deficiency were carried out. Fifteen (47%) patients had mild pathological acid reflux, 5 (16%) had moderately severe and 5 (16%) severe acid GOR. Seven of 32 (22%) patients had no pathological GOR. Ten patients had abnormal manometry findings and 9 had a pathological radiological oesophagus examination. Three patients had radiographic lung consolidations. Thirteen patients had iron deficiency and 5 were anaemic. Two patients with severe acid reflux have died, presumably from aspiration‐induced pneumonia. Findings of OD and GOR are frequent in children with brain damage and are related to significant complications, including fatal course.
Brainstem auditory evoked potentials during hypoglycaernia in insulin‐dependent diabetic children
Authors: StenningerL E , Leissner L , Åman J
Published: January 2008

Brainstem auditory evoked potentials (BAEP) were studied in 10 type 1 diabetic children during normoglycaemia (5.5 × 0.4mmol/l), hypoglycaemia and in the post‐hypoglycaemic state. In addition, BAEP during normoglycaemia in diabetic children were compared with those of an age‐, weight‐ and sex‐matched group of healthy control children. No significant differences were observed between all latencies of the diabetic children compared with those of the healthy children during normoglycaemia. During induction of hypoglycaemia a minor (p < 0.05) prolongation of the inter‐peak latency 1‐V at a blood glucose concentration of 4.1 × 0.5 mmol/l was observed. This prolongation was not aggravated at glucose nadir (1.7 × 0.3 mmol/l). In conclusion, and in contrast with previous findings in non‐diabetic children and in adults with type 1 diabetes, no changes in BAEP were demonstrated during short‐term severe hypoglycaemia in diabetic children and only minor transient changes were seen during the initial phase of a standardized induction of hypoglycaemia.
Myositis ossificans progressiva: a 10‐year follow‐up on a patient treated with etidronate disodium
Authors: Bar Oz B , Boneh A
Published: January 2008

We describe a child who was treated for 10 years with etidronate disodium for myositis ossificans. There were no typical bouts of swelling, reddening or hardening of areas over the skeletal muscles with this treatment and there were no side effects. Nevertheless, a constant gradual progression of the disease led to severe limitation of joint movement. This is the first report on long‐term treatment with etidronate disodium.
Neonatal plasma vitamin K1 levels following oral and intramuscular administration of vitamin K1
Authors: Gupta JM , Salonikas C , Naidoo D
Published: January 2008

Vitamin K1 levels were measured by high performance liquid chromatography in cord blood (n= 33) and at the age of 97–120 h after administration of 2 mg of vitamin Kl orally (n= 88) or 1 mg of vitamin K1 by im injection (n= 88). Vitamin K1 levels were less than 0.05 μg/l in cord blood. The mean (range), SEM, mode and median values (μg/l) for the infants given oral vitamin K1 were 17.99 (1–56), 1.25, 8 and 15.5 and those for the infants given im vitamin Kl 15.83(2–57), 1.01, 11and 14, respectively. The t‐test showed no significant difference in the mean values (p= 0.09) in the infants given oral or im vitamin K.
High‐dose versus low‐dose bovine surfactant treatment in very premature infants
Authors: Gortner L , Pohlandt F , Bartmann P , Bernsau U , Porz F , Hellwege H‐H , Seitz RC , Hieronimi G , Kuhls E , Jorch G , Hentsche R , Reiter H‐L , Bauer J , Versmold H , Meiler B
Published: January 2008

The aim of the study was to determine if high‐dose bovine surfactant (Alveofact, initially 100 mg/kg birth weight) would improve oxygenation compared with low‐dose surfactant (50 mg/kg birth weight) administered intratracheally within 1 h after birth. Inclusion criteria included gestational age 24–29 weeks and birth weight 500–1500 g, intubation and mechanical ventilation, absence of congenital malformations and bacterial infections. Retreatment was considered if the fraction of inspired oxygen (FiO2) was > 0.4 (dose 50 mg/kg birth weight). The primary endpoint was level of oxygenation (PaO2/ FiO2) 2 h after treatment. The study design was a sequential analysis using a triangular test with alpha = 0.05 and 95% power to detect a 25 % improvement in the endpoint. Oxygenation was improved significantly with high‐dose (n= 42) compared to low‐dose treatment (n=48): 30.9±15.0 kPa (231.5±112.7 mmHg) versus 24.1±15.7 kPa (180.6±118.0 mmHg) (mean ± SD). The survival rate was 83% in both groups and the incidence of pulmonary interstitial emphysema was 33% versus 14% with the high‐dose treatment. We conclude that high‐dose surfactant significantly improved oxygenation and reduced lung barotrauma. An initial dose greater than 50 mg/kg birth weight of surfactant is required for optimal acute response.
Oropharyngeal and esophageal pressures during mono‐ and binasal CPAP in neonates
Authors: Pedersen JE , Nielsen K
Published: January 2008

Oropharyngeal and esophageal pressures were measured via a tip‐transducer during mono‐ and binasal CPAP in 30 neonates. During nasal CPAP, increasing flows are followed by an increase in oropharyngeal pressure, although thcrc were great variations among the pressures recorded. On the other hand, no increase in the esophageal pressure could be registered during nasal CPAP. It is advisable to use the lowest flow which ameliorates the respiratory status in neonates. To achieve an appropriate pressure in the oropharynx it is advisable to close the mouth during nasal CPAP in the neonate.
Immunosuppression after measles vaccination
Authors: Smedman Lars , Joki Annalena , da Silva Augusto Paulo Jost , Troye‐Blomberg Marita , Aronsson Bernice , Perlmann Peter
Published: January 2008

The influence of conventional live attenuated measles vaccine on cellular immune responsiveness was investigated in Sweden and Guinea‐Bissau. Sixteen children in a residential area in Bissau and 16 living in southern Stockholm were examined before and 8–10 days after vaccination. Lymphoproliferation was measured to concanavalin A (con‐A), PPD and tetanus toxoid (TT) using a whole‐blood 3H‐thymidine incorporation assay. Stimulation indices were significantly lower after vaccination than before, in the case of con‐A (p= 0.03) and TT (p= 0.01) in the Guinean children and in the case of PPD (p= 0.009) and TT (p= 0.03) in the Swedish children. Stimulation of lymphocytes from measles‐immune children with measles antigens resulted in weak lymphoproliferative responses. These observations may be relevant to the increased mortality found in children immunized with high‐titre measles vaccines, as compared to controls, in recent studies. The study confirms the applicability and usefulness under field conditions of the whole blood version of the thymidine incorporation assay.
Normal weight for length in newborn infants in whom growth hormone deficiency was later diagnosed
Authors: Niklasson A , Karlberg P , Albertsson‐Wikland K ,   Swedish paediatric study group for GH treatment
Published: January 2008

A new model for evaluating leanness/fatness (LeanSDS) in the newborn infant has been used to examine body weight for length in a group of Swedish infants in whom idiopathic growth hormone deficiency (GHD n= 220) was later diagnosed. These infants have earlier been reported to be significantly shorter (median =−0.87 SDS; SDS; standard deviation scores) and lighter (median =−0.60 SDS) in relation to gestational age, than the most recent reference. A group of infants who later developed GHD due to organic etiologies (n= 92) had normal weight and length for gestational age at birth. Using the LeanSDS model (with intercept 0.0 and regression coefficient 0.7) revealed that these idiopathic GHD infants have weight that is normal for their length (mean LeanSDS = 0.11 ±0.08 (SEM); n.s.) why the abnormality is a reduced linear growth. These findings also indicate that birth length (linear growth) should be given increased attention when size at birth is evaluated.
Right‐sided valvular regurgitation in normal children determined by combined colour‐coded and continuous‐wave Doppler echocardiography
Authors: Van Dijk APJ , Van Oort AM , Daniëls O
Published: January 2008

Using Doppler echocardiography, the prevalence of tricuspid and pulmonary valve regurgitation was determined prospectively in 173 normal children, aged 8.3 ± 2.7 (range 5–14) years. Pulmonary regurgitation was defined as a red‐yellow or mosaic coloured regurgitant flow, continuing to end‐diastole with continuous‐wave Doppler. It was found in 84% of the children. Tricuspid regurgitation was defined as a blue‐green or mosaic coloured regurgitant flow from the tricuspid valve into the right atrium lasting > 0.5 systole, as determined by continuous‐wave Doppler. Tricuspid regurgitation was present in only 8% of the children. Tricuspid regurgitation flow of very short duration, considered to be due to valve closure, was found in 75%. No effect of age, presence of a vibratory innocent heart murmur or gender on the prcvalence of right‐sided valvular regurgitation could be demonstrated. All regurgitations were haemodynamically insignificant. Thus right‐sided valvular regurgitation in normal schoolchildren is a normal physiological finding with relatively high prevalence. In the absence of functional reasons for these regurgitations and in the absence of structural pulmonary or tricuspid valve disease, these signals should be considered physiological in order lo avoid iatrogenic heart disease.
Epidemiology and prevention of caustic ingestion in children
Authors: Christesen HBT
Published: January 2008

A total of 102 children less than 16 years of age admitted for caustic ingestion in the period 1976–1991 were registrated. The annual incidence rate of hospitalizatiotl was 10.8:100000 for the city of Aarhus, Denmark. Esophageal burns occurred with a frequency of 5.0:100000 per year. Ninety‐four percent of the children were less than 5 years old. For this age group, the incidence rates of admission and esophageal burns were 34.6:100 000 and 15.8:100 000, respectively. All ingestions were accidental. The incidence rates of esophageal burns in children 0–4 years old (p= 0.019) decreased significantly during the period studied. The cause of this decrease is not clear, but a change in the spectrum of household products and the gradual introduction of child‐proof caps are possible explanations. To minimize the frequency of accidents, an information campaign directed specifically at parents of toddlers is recommended. Information material should stress that caustics should always be inaccessible to children and stored separately, and should never be decanted.
A psychosocial follow‐up of ten adolescents with low anorectal malformation
Authors: Diseth Trond H , Emblem Ragnhild , Solbraa Inger‐Berit , Vandvik Inger Helene
Published: January 2008

Ten adolescents, aged 12–16 (mean 14.5) years, with corrected low anorectal anomalies were assessed with regard to somatic condition, psychopathology and psychosocial functioning by semistructured interviews and questionnaires. Half of the patients still had a persistent dysfunction involving problems with constipation and/or soiling. Six of 10 adolescents met the criteria for a psychiatric diagnosis and had scores indicating mild to severe impairment of psychosocial function. Psychosocial functioning was correlated with chronic family difficulties. The findings are in contrast to previous studies and reveal hidden problems and unmet social needs. To optimize their mental health and psychosocial functioning, children with low anorectal anomalies need both somatic and psychosocial follow‐up.
Growth and skeletal maturation in children with phenylketonuria
Authors: Schaefer F , Burgard P , Batzler U , Rupp A , Schmidt H , Gilli G , Bickel H , Bremer HJ
Published: January 2008

Schaefer F, Burgard P, Batzler U, Rupp A, Schmidt H, Gilli G, Bickel H, Bremer HJ. Growth and skeletal maturation in phenylketonuria. Acta Paediatr 1994;83:534–41. Stockholm. ISSN 0803–5253

Growth and skeletal maturation was evaluated in 82 children participating in the German Colkdborative Study of Children Treated for Phenylketonuria (PKU). Height, weight, head circumference and bone age were recorded at regular intervals for the first 6 years of life. The mean SD score (SDS) for height was not significantly different from zero at study entry, but decreased mainly during the second year of life to a nadir of ‐0.78 in boys and ‐0.54 in girls at 2.5 years. During the subsequent years, a significant trend towards a regain of height SDS was noted in both sexes. Weight‐for‐height SDS was close to zero in both sexes, with a significant continuous increasing trend throughout the observation period. Head circumference SDS decreased in boys during the first year of life from ‐0.28 to ‐0.68, whereas girls showed only a minor change. During the further follow‐up period, head circumference SDS remained at approximately ‐0.3 in boys and 0.0 in girls. While the mean verbal and performance IQ of the total study population at 5 and 6 years of age did not differ from a group of 212 healthy non‐PKU children, patients with a head circumference SDS less than the population median at 2 years of age exhibited poorer cognitative abilities at school age than those patients with a relative head size greater than the population median. The children with a head circumference less than the median at 2 years had smaller head sizes already at birth; in addition, the change in relative head size during the first 2 years was correlated significantly with cognitive abilities at school age in boys. Mean bone age was identical to chronological age at each time point of observation. The rate of maturation was one year of bone age per year of chronological age. No correlation between phenylalanine intake or phenylalanine concentrations and the rates of body or head growth or skeletal maturation could be established. We conclude that despite adequate weight gain, moderate growth retardation occurred during the first 2 years of life in this group of children treated for PKU. Growth was more compromised in boys than in girls and tended to be compensated during later follow‐up. Early infantile head circumference and growth appear to be predictors of cognitive development.
Familial chronic myelocytic leukaemia‐like syndrome probably of congenital origin
Authors: Lardi Amer A , Taha Omer MA , Al‐Jefri Abdulla , Ahmed Mirghani AM
Published: January 2008

Lardi AA, Taha OMA, Al‐Jefri A, Ahmed MAM. Familial chronic myelocytic leukaemia‐like syndrome probably of congenital origin. Acta Pædiatr 1994;83:558–60. Stockholm. ISSN 0803–5253

Three Saudi siblings prcsented with clinical features of chronic myelocytic leukaemia in early infancy. Their parents are first cousins. The mother was 22 years old during her first pregnancy. She had no history of abortion. The possibility of this familial disorder being congenital is discussed. □
Comparison of IgG subclasses in foetal serum, maternal serum at delivery and milk in IgA‐deficient and control women
Authors: Thom H , Carter PE , Duffty P , Main MJC , Brown S
Published: January 2008

Immunoglobulin G subclass concentrations were measured in paired foetal (cord) and maternal serum specimens at delivery from 27 IgA‐deficient (serum IgA < 0.01 g/l) and 15 control women. IgA‐deficient women had significantly higher serum IgGl and IgG3 concentrations than control women but 2 of the group had concomitant IgG2/IgG4 deficiency and a further 12 had low IgG4 concentrations (serum IgG4 < 0.025 g/l). Foetal serum also had significantly higher IgGl concentrations than control foetal serum but lower IgG2 and IgG4 levels. Concentrations of IgG subclasses and IgM were measured in breast milk collected on the fifth day postpartum from 19 of these IgA‐deficient and 18 control women. Between‐group differences in IgG subclass levels resembled those in serum. Compared with serum, proportionally less IgG3 was present in milk in both groups although the contribution of IgG3 to total IgG was not less than that of IgG4. Slightly higher IgM was found in milk from the IgA‐deficient mothers.
Clinical significance of serum alpha‐fetoprotein subfractionation in pediatric diseases
Authors: Ishiguro Tatsuya , Tsuchida Yoshiaki
Published: January 2008

Serum alpha‐fetoprotein (AFP) subfraction profile is a predictive indicator for the discrimination of hepatic malignancies, benign liver diseases and yolk sac tumor in adults. In the present study, AFP subfractions were examined in AFP‐positive sera from 59 patients of less than 15 years of age. Fractionation of AFP was carried out by lectin affinity crossed‐line immunoelectrophoresis. Concanavalin A, Lens culinaris hemagglutinin and phytohemagglutinin E were used as lectins. Fifty‐four of 59 (91.5%) AFP subfraction profiles in patients with pediatric diseases were classified into three common types: (1) benign liver disorder, (2) hepatic malignancy and (3) yolk sac tumor. An atypical AFP subfraction profile resembling hepatic malignancy type was found in 5 of 59 (8.5%) infants. It was concluded that estimation of serum AFP subfraction profiles facilitates differential diagnosis of various AFP‐positive pediatric diseases, such as hepatoblastoma. hepatoma, hepatic cirrhosis, hepatitis or germ cell tumors.
A bio‐psychosocial evaluation of ten adolescents with fibromyalgia
Authors: Vandvik IH , Forseth KØ
Published: January 2008

A comprehensive assessment of 10 adolescents (mean age 15.7 years) fulfilling the ACR criteria for fibromyalgia, disclosed that 3 patients also had juvenile chronic arthritis. Based on semi‐structured psychiatric interviews, testing and family assessments, 6 of the patients had a psychiatric diagnosis (over anxious and/or depressive disorders). The pain scores for the group (mean 5.0, SD 1.5) were significantly higher than for a comparison group of patients with juvenile chronic arthritis (mean 2.5, SD 1.7), (p< 0.01). Average IQ was normal (mean 102.3, SD 13.9), but striving for achievement and high parental expectations were evident in 8 families. Seven of the mothers and 3 of the fathers had chronic diseases. The frequency of individual and family stress indicates a need for psychosocial assessment and counselling soon after onset of symptoms. This study also serves as a reminder that the diagnosis of juvenile chronic arthritis does not exclude fibromyalgia.
Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero
Authors: Hubert Armelle , Bonneau Dominique , Couet Dominique , Berthier Michel , Oriot Denis , Larregue Marc
Published: January 2008

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.
Diabetes mellitus in cystic fibrosis: effect of insulin therapy on lung function and infections
Authors: Lanng S , Thorsteinsson B , Nerup J , Koch C
Published: January 2008

The effect of insulin therapy on lung function and lung infections was studied in a retrospective case‐control design in 18 diabetic cystic fibrosis (CF) patients; 18 non‐diabetic CF patients, matched for sex, age and presence of chronic Pseudomonas aeruginosa lung infection. served as controls. Parameters of CF clinical status were collected for six years before and two years after the onset of insulin therapy in the diabetic patients. Before onset of insulin therapy, body mass index (BMI) and forced vital capacity (FVC) in (pre)diabetic patients deviated increasingly from those in control patients. Decreases in BMI and lung function during the past three months before onset of insulin therapy were reverted within three months of insulin therapy. From three months to two years after onset of insulin therapy, differences in BMI and lung function diminished between diabetic and control patients. After two years of insulin therapy, BMI was similar in diabetic and non‐diabetic patients and the percentage differences in forced expiratory volume in 1s (FEV1) and FVC between the two groups were similar to those found six years before the onset of insulin therapy. The finding that insulin therapy improves lung function in diabetic CF patients suggests strongly that the insidious decline in lung function seen during the years before the diagnosis of diabetes mellitus results from the pre‐diabetic condition. After onset of insulin therapy, the percentages of sputum examinations positive for Haemophilus infuenzae and Streptococcus pneumoniae decreased in the diabetic patients, whereas parameters of lung infections with P. aeruginosa and Staphylococcus aureus remained unchanged. In conclusion, since insulin therapy improves lung function and reduces the number of infections with H. influenzae and S. pneumoniae in diabetic CF patients, we suggest that insulin therapy should be started when diabetes mellitus is diagnosed.
Cholestatic pruritus: effect of phototherapy on pruritus and excretion of bile acids in urine
Authors: Rosenthal E , Diamond E , Benderly A , Etzioni A
Published: January 2008

Pruritus associated with hepatic cholestasis may cause significant morbidity and its correlation to retention of bile acids in skin is inconsistent. Available treatment modalities are only partially effective and can have several adverse effects. Phototherapy has recently been reported to improve cholestatic pruritus, but has not been evaluated previously in children, and its mechanism is still unclear. We report the outcome of multiple Daylite phototherapy treatments over two years in a seven‐year‐old child with chronic hepatic cholestasis that was resistant to other therapeutic modalities. Bile acid levels in urine were used as markers of effectiveness in parallel with clinical response. Night phototherapy alone increased the bile acids/creatinine ratio in urine from 1.54 & 0.04 pmol/mg at baseline to 2.07 ± 0.29 pmol/mg. Continuous phototherapy combined with night diuresis raised the ratio further to 2.28 ± 0.55 μmol/mg. Night diuresis alone had no effect. Continuous phototherapy combined with night diuresis raised the bile acids/creatinine ratio by 44% on the first day and by 61 % on the second day, but declined to baseline on the third day of treatment. A marked clinical improvement was noted for one week following two days of phototherapy. This schedule has been repeatedly effective in improving pruritus for approximately one year and may be due to the ability of phototherapy to enhance excretion of bile acids and other possible pruritogens into urine.
Chronic childhood idiopathic thrombocytopenia purpura: long‐term follow‐up
Authors: Tamary H , Kaplinsky C , Levy I , Cohen IJ , Yaniv I , Stark B , Goshen Y , Zaizov R
Published: January 2008

An understanding of the natural history of childhood chronic idiopathic thrombocytopenia purpura (ITP) could contribute to a rational therapeutic approach to its treatment, which remains controversial. In our retrospective study of 92 children with ITP, 22 had a chronic course and were followed for 3–14 years (median 8.6 years). Treatment, when indicated, was individualized: 4 patients (18.2%) did not receive any treatment, 14 (63.6%) received steroids only, while 4 (18.2%) were treated with steroids and one of the following: high‐dose gamma globulin (4 patients), splenectomy (2 patients) or immunosuppressive therapy (2 patients). During follow‐up, 14 patients (63.6%) achieved complete remission, 5 (22.7%) partial remission and only 3 (13.5%) remained severely thrombocytopenic, with minimal bleeding tendency. Eleven patients (50%) responded to the initial prednisone course (1–5mg/kg/day), but showed a marked decrease in platelet count when steroids were tapered off. In view of the high rates of complete and partial remission and the mild course of the few non‐responding patients, it is suggested that with adequate supportive therapy, follow‐up problems and fatalities can be kept to a minimum. We believe that aggressive therapy, such as splenectomy, should be reserved for the rare symptomatic and severely thrombocytopenic patient.
Differentiation of glomerular and non‐glomerular hematuria in children by measurement of mean corpuscular volume of urinary red cells using a semi‐automated cell counter
Authors: Lettgen B , Hestermann C , Rascher W
Published: January 2008

Urine samples from 110 children and adolescents with micro‐ or macrohematuria were compared using phase‐contrast microscopy and a semi‐automated cell counter to differentiate glomerular from non‐glomerular hematuria. Glomerular hematuria, defined by clinical criteria from biopsy and standard chemical evaluation, was observed in 73 patients (group 1): non‐glomerular hematuria was found in 37 patients (group 2). The latter group underwent urological operation and had normal urine before operation. Mean corpuscular erythrocyte volume (MCVU) and percent of dysmorphic erythrocytes were determinated. To exclude the influence of mean erythrocyte volume of blood erythrocytes (MCVB), MCVB was determined and additionally the quotient of MCVU/MCVB was calculated (MCVUB). The percentage of dysmorphic erythrocytes differed significantly between the two groups ((75 ± 13% in group 1 versus 38 ± 27% in group 2 (mean ± SD); p < 0.01), MCVU (34.0 ± 11.1 fl in group 1 versus 55.5 ± 16.3 fl in group 2; p < 0.01) and MCVUB (0.41 ± 0.14 in group 1 versus 0.67 ± 0.20 in group 2; p < 0.01). When glomerular hematuria was defined on the basis of more than 80% dysmorphic erythrocytes, the sensitivity of phase‐contrast microscopy was 0.52, specificity versus 0.96 and efficiency 0.64. When glomerular hematuria was defined asn <50fl MCVU, sensitivity was 0.92, specificity 0.57 and efficiency 0.80 and as <0.06 MCVUB, sensitivity was 0.89, specificity 0.62 and efficiency 0.80. The correlation coefficient between MCVU and dysmorphic erythrocytes was ‐0.71 (p < 0.01). The differentiation of glomerular and non‐glomerular hematuria in children by determination of MCVU appears to be equivalent to and easier to perform than phase‐contrast microscopy.
Urinary incontinence and nocturia in healthy schoolchildren
Authors: Mattsson S
Published: January 2008

A frequency/volume chart was used to investigate the micturition pattern of healthy schoolchildren, aged 7–15 years. Of 242 objectively and subjectively healthy children, incontinence was recorded by 36 (14.9%). Nocturnal enuresis, defined as at least one wet night in three months, occurred in 19 (7.9%) children and daytime incontinence occurred with the same frequency. Four girls had both symptoms. Twenty‐seven (11.2%) children woke up to void during the night of the investigation but habitual nocturia was established for only 4.1 % There was no difference in the micturition pattern between continent and incontinent children, and there was no correlation between incontinence, nocturnal micturitions and recorded oral fluid intake. At a follow‐up one year later, using a questionnaire administrated to the same children, a persistent high rate of incontinence confirmed the original findings.
Anorexia nervosa: who sees the patients and who do the patients see?
Authors: Gillberg C , Rastam M , Gillberg IC
Published: January 2008

Two samples of patients with DSM‐III‐R anorexia nervosa, one identified by screening of a total population cohort and the other a mixed screening and referral group, were contrasted with a comparison group of sex‐, age‐ and school‐matched individuals. The rates and types of services consulted and treatment given were analyzed. The groups with anorexia nervosa tended to differ somewhat in these respects, although the numbers were too small for meaningful statistical calculations to be made. Only half of the total population sample had ever received any treatment for the eating disorder, even many years after anorexia nervosa onset in the teenage period. The implications of these findings are discussed both in terms of clinical needs and as they relate to previous research in anorexia nervosa, which has almost exclusively referred to non‐population‐based groups of patient.
Variable outcome of a congenital cytomegalovirus infection in a quadruplet after primary infection of the mother during pregnancy
Authors: Schneeberger PM , Groenendaal F , Vries LS de , Loon AM van , Vroom TM
Published: January 2008

A congenital cytomegalovirus (CMV) infection in a quadruplet has not been reported previously in the literature. We describe a congenital CMV infection in a quadruplet after primary CMV infection of the mother during pregnancy. One infant died antenatally, while another had cholestatic jaundice at birth and died of liver failure at three months of age. Of the two surviving infants, one showed no signs or symptoms of congenital CMV infection at 18 months of age, whereas the other had hearing loss and delayed development. CMV cultures of urine were positive at six weeks of age in all three infants born alive. The diagnosis of congenital CMV infection after primary CMV infection of the mother during pregnancy was made retrospectively by detection of CMV‐immediate early antigen in three placentas as well as by examination of serum obtained from the mother during pregnancy.
Role of genetics in health care
Authors: Galjaard Hans
Published: January 2008

Spyros Doxiadis: In Memoriam.

The first time I met Spyros Doxiadis was in Athens on the occasion of an international conference on cerebral palsy. During this meeting and especially at the dinner speeches it became clear to me that Spyros was a remarkable man. Eminent pediatricians from various countries had come to assist him during a difficult period in the Greek political history. Dr. Doxiadis appeared to be a grateful friend and very modest about his own contributions.

The second time we met was even more memorable. Dr. Doxiadis, intrigued by the various influences shaping the individual, invited in 1988 some twenty experts in different disciplines such as genetics, sociology, pediatrics, developmental psychology and psychiatry. I will remember this meeting as one of the most interesting in my professional career because it indeed gave an impression of the complexity of the process shaping the individual and at the same time provided new perspectives and a better mutual understanding. At the end of this meeting and after twenty or so lectures, Spyros Doxiadis in summarizing them he put the most important results and statements of the conference in the context of Greek mythology. Everybody was not only deeply impressed by this accomplishment and the beautiful slides. It also generated the sobering feeling that most of what we thought and said had been said and written over 2000 years earlier. Spyros: an erudite, kind and modest man whose book “Early influences shaping the individual” (1) I cherish as a memory to him and his ideals. It is both an honour and a pleasure to write this contribution where I will try to summarize new developments in genetics and put them in a wider psychosocial context, as Dr. Doxiadis at the end of his life asked me to do.