bluuebunny/crossref_metadata_2025 huggingface dataset:
Fetal CNS damage after exposure to maternal trauma during pregnancy
Authors: Baethmann M , Kahn T , Lenard H‐G , Voit T
Published: January 2008

Nine case reports are presented to indicate the possible effects of maternal trauma on surviving fetuses. Previous reports have only addressed fatal consequences. Traumata occurred between gestational weeks 23 and 37. Seven mothers had motor‐vehicle accidents (MVA), two had blunt abdominal traumata. Four mothers suffered severe injuries, such as cerebral contusion, fractures or placental abruption leading to emergency Cesarean section. Premature uterine contractions were observed in five mothers and hemorrhage in two. The nine children were born after 30 to 40 weeks of gestation. Seven had normal postpartal vital signs, one required resuscitation and one premature needed assisted ventilation. Clinical symptoms were variable: movement disorders (n= 3), hydrocephalus (n= 2), convulsions (n= 1), cerebral palsy (n= 1), normal (n= 3). Follow‐up ranged from 7 months to 5 years. Neuroimaging revealed periventricular leukomalacia (n= 2), localized vascular infarctions (n= 2), hemorrhage (n= 1), hydrocephalus (n= 2) and global brain damage (n= 1). The causative role of maternal accidents was extremely likely in one patient, and probable but unproved in the remaining cases.
Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3
Authors: Alderborn A , Anvret M , Gustavson K‐H , Hagenäs L , Wadelius C
Published: January 2008

Achondroplasia, an autosomal dominant inherited disorder, is one of the most common forms of skeletal dysplasia resulting in disproportionate extreme shortness. Recently, two point mutations, both affecting nucleotide 1138 in the fibroblast growth factor receptor type 3 (FGFR3) gene, were found to be the cause of the disorder. We investigated DNA from 16 Swedish patients with achondroplasia for the presence of these mutations. All patients were found to be heterozygous for the G to A transition at nucleotide 1138. Our data thus support previous reports showing a striking genetic homogeneity, in that almost all achondroplasia patients have the FGFR3 G380R mutation at the protein level.
The A985 to G mutation of the medium‐chain acyl‐CoA dehydrogenase gene and sudden infant death syndrome in Normandy
Authors: Lecoq I , Mallet E , Bonte JB , Travert G
Published: January 2008

Medium‐chain acyl‐CoA dehydrogenase deficiency is the most common genetic defect of hepatic fatty acid oxidation. Clinical signs are somnolence and lethargy potentially leading to coma. Death occurs during the first attack in about 20% of cases, suggesting sudden infant death syndrome. A point mutation (adenine to guanine at position 985) in exon 11 of the medium‐chain acyl‐CoA dehydrogenase gene accounts for 90% of medium‐chain acyl‐CoA dehydrogenase deficiency‐causing alleles. Such a high prevalence of a single mutation makes it possible to estimate the incidence of medium‐chain acyl‐CoA dehydrogenase deficiency in the general population and in sudden infant death syndrome. The study was performed by polymerase chain reaction amplification from blood spots on filter paper in 2000 randomly selected newborns (group I) and in 225 infants dead from sudden infant death syndrome (group II). Among 2000 newborns, 17 were found to be heterozygote for the G985 mutation. In group 11, one child was found with a single copy of the G985 mutation. So. the estimated frequency of the G985 mutation in the general population was 1/118 and the incidence of medium‐chain acyl‐CoA dehydrogenase deficiency was calculated as around 1/45 000 in Normandy.
Increased diarrhoeal and respiratory morbidity in association with zinc deficiency—a preliminary report
Authors: Bhandari N , Bahl R , Hambidge KM , Bhan MK
Published: January 2008

Plasma zinc levels, in a cohort of 116 children aged 12–59 months recently recovered from an episode of acute diarrhoea attending a community health clinic in an urban slum, were related to diarrhoeal and respiratory morbidity in the 3 month period following recovery. Children with low plasma zinc levels (< 60 μg dl−1) spent a significantly greater number of days with watery diarrhoea (rate ratio 1.69 (95% confidence intervals 1.03‐2.78)), diarrhoea associated with fever (rate ratio 1.88 (95% confidence intervals 1.05‐3.34)), and acute lower respiratory tract infections (rate ratio 2.69 (95% confidence intervals 1.64‐4.38)).
Effects of information on smoking behaviour in families with preschool children
Authors: Eriksen W , Serrum K , Bruusgaard D
Published: January 2008

An information programme on measures to prevent passive smoking by children, designed for use during well‐child visits, was tested. A total of 443 consecutive families with one or two smoking parents, attending mother and child health centres in Oslo, Norway, were randomly allocated to an intervention group (n= 221) and a control group (n= 222). Eighty families (18%) dropped out during the study period. For the intervention group, the communication between the health visitor and the family was prolonged at one well‐child visit with a brief session on smoking, and the parents were given three brochures. The families in the control group received no information on smoking. Changes in practical measures to prevent passive smoking by the children (e.g. no smoking indoors) as well as changes in daily smoking and smoking quantity were assessed by parental reports. We found no significant differences between the groups with respect to change in smoking behaviour.
Early diet of preterm infants and bone mineralization at age five years
Authors: Bishop NJ , Dahlenburg SL , Fewtrell MS , Morley R , Lucas A
Published: January 2008

Bone disease with significantly reduced bone mineralization is common in preterm infants, and associated with later linear growth stunting at 18 months of age. Dietary insufficiency of calcium and phosphorus is thought to be the principal aetiological factor. We studied 54 children at mean age 5 years who were born preterm and had participated in a prospective multicentre study of effects of early diet on later growth and development. Diets compared were banked donor breast milk and preterm formula fed as a supplement to mother's own milk. Increasing human milk intake was strongly positively associated with later bone mineral content. Children fed predominantly human milk had greater bone mineral content than children of similar size born at term. These data suggest that the early nutritional environment of the preterm infant could play an important role in determining later skeletal growth and mineralization.
Small bowel biopsy in Swedish paediatric clinics
Authors: Wärngård O , Stenhammar L , Ascher H , Cavell B , Danielsson L , Dannaeus A , Ivarsson A , Lindberg T , Lindquist B
Published: January 2008

The capsule technique for small bowel biopsy performed at Swedish paediatric clinics was evaluated using two questionnaires in 1990 and 1993, respectively. Replies were received from all 45 centres which together perform approximately 2300 biopsies per year. Clotting function tests prior to biopsy were carried out in 42% of the centres. The biopsies were performed under intubation anaesthesia in 13% of the centres. The most striking difference between the answers to the two questionnaires was the mode of sedation. The use of intravenous sedatives increased from 40% of the centres in the first questionnaire to 59% in the second one. The use of the oral, rectal and intramuscular routes decreased correspondingly. The most frequently used drugs for intravenous sedation were benzodiazepines, in the first questionnaire diazepam and in the second one midazolam. The failure rate was approximately 5%. In the first questionnaire, no complication was encountered. In the second questionnaire, three cases of intramural duodenal haematoma were reported, one of which led to pancreatitis. We conclude that by focusing on questions of sedation these rather simple questionnaires may have resulted in more effective sedation of children undergoing small bowel biopsy.
Familial hypercholesterolaemia with severe cardiac involvement in a boy: successful management and mid‐term follow‐up
Authors: Pfammatter JP , Stocker FP , Oetliker O , Wiesmann U , Meier B
Published: January 2008

A 13‐year‐old boy with double heterozygosity for familial hypercholesterolaemia with a 90% left coronary artery main stem stenosis is reported. The patient's cholesterol levels were effectively controlled with weekly sessions of selective low‐density lipoprotein cholesterol removal through immunoadsorption by use of an extracorporeal system. Left main coronary artery stenosis was successfully treated with percutaneous transluminal balloon dilation. At 30 months after the intervention and still under treatment with weekly sessions of low‐density lipoprotein apheresis the patient is free of cardiac symptoms. He shows normal exercise capacity and normal myocardial perfusion. It is concluded that aggressive management is justified in such patients and may result in a near‐normal quality of life.
A prospective, longitudinal study examining the development of retinopathy in children with diabetes
Authors: Falck A , Käär M‐L , Laatikainen L
Published: January 2008

A prospective longitudinal study of 182 children and adolescents with diabetes revealed that during a follow‐up of 2.5 ± 0.5 years the prevalence of retinopathy increased from 10.8% to 28.0%, corresponding to an annual increase of 7%. Retinopathy was diagnosed at a mean age of 15.3 years (95% CI, 14.8–15.8 years) after a mean duration of diabetes of 8.9 years (95% CI, 8.0 9.7 years). Prepubertal years of diabetes contributed to the risk of developing retinopathy. The initial signs of retinopathy were microaneurysm(s) in 56%, microaneurysm(s) and haemorrhage(s) in 30%, and haemorrhage(s) in 10%. A combination of microaneurysm, haemorrhage and cotton‐wool spot was observed in 2%, and microaneurysms, haemorrhage and an IRMA lesion were seen in 2%. Most of the initial lesions disappeared during the follow‐up period, but at the same time new lesions developed elsewhere in the retina in all but 2 cases. In 8 patients (15% of patients with retinopathy) aged 13.7 19.8 years and having had diabetes for 3.7–14.8 years, retinal changes progressed from mild to a more advanced background retinopathy. A higher glycated haemoglobin level during puberty was the only factor which differentiated these patients from control patients matched for sex, age, puberty and duration of diabetes.
The bronze baby syndrome: evidence of increased tissue concentration of copper porphyrins
Authors: Rubaltelli FF , Da Riol R , D'Amore ESG , Jori G
Published: January 2008

A case regarding a newborn infant with severe Rh haemolytic disease, who presented with the bronze baby syndrome and eventually died, is reported. The postmortem examination showed marked extramedullary haematopoiesis in the liver and spleen, heavy hepatic haemosiderosis and mild intralobular cholestasis. The porphyrin content, which was assayed in different tissues. was very high in the liver, suggesting that the increased erythropoiesis seen in Rh haemolytic disease leads to an increased synthesis of porphyrins as by‐products of haem synthesis. Phototherapy causes photodestruction, sensitized by bilirubin, of porphyrins (mainly copper porphyrins), yielding brown photoproducts.
Sustained attention problems in children with early treated congenital hypothyroidism
Authors: Kooistra L , Meere JJ van der , Vulsma T , Kalverboer AF
Published: January 2008

Sustained attention was studied in 48 children with early treated congenital hypothyroidism and 35 healthy controls, using a computer‐paced and a self‐paced continuous performance task. The performance of the patients, particularly those in the low T4 group (38 patients with T4 levels < 50 nmol/1 at neonatal screening), declined in the final stage of the computer‐paced task, suggesting a problem in remaining attentive over time. The performance of all children declined in the first and improved in the final stage of the self‐paced task. This pattern was most pronounced in the low T4 group, reflecting greater variability in their task performance over time, again indicating a problem in sustaining attention. No correlation was found between onset of treatment and sustained attention. The small size of the intermediate T4 group (10 patients with T4 levels ≥ 250 nmol/1 at neonatal screening) made the results more difficult to interpret and may have concealed a problem with sustained attention in this group.
Early 99mTc dimercaptosuccinic acid (DMSA) scintigraphy in symptomatic first‐time urinary tract infection
Authors: Stokland E , Hellström M , Jacobsson B , Jodal U , Lundgren P , Sixt R
Published: January 2008

During a 2 year period, 175 children below 6 years of age (median 0.4 year) with non‐obstructive symptomatic urinary tract infection were studied by 99mTc dimercaptosuccinic acid (DMSA) scintigraphy. DMSA scintigraphy was performed at a median of 10 days after the start of treatment and was abnormal in 73 children (42%), equivocal in 29 (16%) and normal in 73 (42%). Reflux was seen in 27% of all children and in 38% of the renal units that were abnormal at DMSA scintigraphy. A decreasing frequency of abnormalities at DMSA scintigraphy was seen within the first 14 days after the start of treatment. C‐reactive protein and grade of reflux correlated significantly with abnormal DMSA studies. To demonstrate renal involvement in acute urinary tract infection, DMSA scintigraphy should be performed within days after the start of treatment. It is noteworthy that reflux was seen in less than half of renal units with abnormal DMSA scintigraphy.
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender
Authors: Zerres K , Rudnik‐Schöneborn S , Deget F , Holtkamp U , Brodehl J , Geisert J , Schärer K ,   and the Arbeitsgemeinschaft für Pädiatrische Nephrologie
Published: January 2008

The clinical course of 66 boys and 49 girls with autosomal recessive polycystic kidney disease recruited from departments of paediatric nephrology was investigated over a mean observation period of 4.92 years. This is a selected study group of children from departments of paediatric nephrology who in most cases survived the neonatal period, since birth clinics did not participate. The median age at diagnosis was 29 days (prenatal to 14.5 years). We observed decreased glomerular filtration rates (GFRs) in 72% (median age at onset of decrease of GFR < 2SD, 0.6 years; range. 0‐18.7 years), and 11 patients developed end‐stage renal disease. Hypertension requiring drug treatment was found in 70% (median age at start of medication, 0.5 years; range, 0‐16.7 years). Kidney length was above the 97th centile in 68% of patients, and kidney length did not increase with age or deterioration of renal function. Urinary tract infections occurred in 30%, growth retardation in 25%. and clinical signs of hepatic fibrosis were detected in 46%. Thirteen patients (11 %) died during the observation period. 10 of them in the first year of life. There was a statistically significant sex difference in terms of a more pronounced progression in girls. The survival probability at 1 year was 94% for male patients and 82'% for female patients (p < 0.05) in this study. Urinary tract infections occurred more frequently in girls (p < 0.025) and were observed earlier. In addition, more girls had impaired renal function. developed end‐stage renal disease and showed growth retardation; these differences, however. were not significant. For the children in this study, however, our results indicate that the long‐term prognosis in the majority of cases is better throughout childhood and youth than often stated.
Decreased ferritin levels, despite iron supplementation, during erythropoietin therapy in anaemia of prematurity
Authors: Bader D , Blondheim O , Jonas R , Admoni O , Abend‐Winger M , Reich D , Lanir A , Tamir A , Eldar I , Attias D
Published: January 2008

Erythropoietin (rHuEPO) therapy has been shown to be beneficial in preventing and treating anaemia of prematurity and to decrease the need for blood transfusions. There is, however, only scanty data on the effect of rHuEPO therapy on iron metabolism. We studied 29 preterm infants (age 34 ± 14 days) who were randomly assigned to receive either rHuEPO 900 U kg‐1 week‐1 with 6 mg kg‐1 day‐1 of iron for 4 weeks (n= 15) or no therapy. The following parameters were evaluated and compared between and within groups at the beginning, during and at the end of the study: Haematocrit (SI), reticulocytes (109μgl‐1), serum ferritin (μg1‐1) and iron (μmol 1‐1). The results were as follows. At the baseline, erythropoietin levels were similar in both groups: 7.2 ± 5.6 versus 6.2 ± 3.2 mU ml‐1 (NS). In the treated infants the haematocrit remained stable during the study and was significantly higher than in the control group by the end of the study: 0.34 ± 0.03 versus 0.28 ± 0.05 (p= O.001). rHuEPO therapy increased the reticulocyte count from 130 ± 70 to 430 ± 200 (p= 0.0002). However, rHuEPO therapy depleted both serum ferritin and it‐on levels from 321 ± 191 to 76 ± 58 $uMgl‐1 (p= 0.04) and from 18 ± 5 to 13 ± 4 μmoll‐1 (p= 0.03), respectively. We conclude that rHuEPO therapy prevented anaemia and its sequelae; however, serum ferritin and iron levels were depleted. We suggest that the effect of rHuEPO may be further increased by higher iron supplementation.
Effect of postpartum maternal infection on proteins and trace elements in colostrum and early milk
Authors: Lönnerdal B , Zavaleta N , Kusunoki L , Lanata CF , Peerson JM , Brown KH
Published: January 2008

In developing countries, maternal infections during lactation are common. In this study, we evaluated the effect of acute maternal postpartum infection on the composition of colostrum and early milk with special emphasis on milk proteins and trace elements. The study was carried out in two maternity hospitals in Lima, Peru. Subjects were normally nourished women (body mass index (BMI) > 20.0) who intended to exclusively breastfeed their child and who had fever and clinical symptoms of infection within the first 48 h postpartum (n= 34). Non‐ill women of similar characteristics were selected as controls (n= 23). Blood and milk samples were taken on days 1 and 14 postpartum. An acute phase response was confirmed by significantly increased serum levels of C‐reactive protein in infected women. Serum zinc levels increased significantly from day 1 to day 14, but were not affected by infection. Serum copper levels were significantly higher in ill women than in non‐ill women on day 1. All participating women were breastfeeding on day 14. Whey protein levels, the whey/casein ratio and total protein levels decreased significantly with time, but were not affected by infection. There were no differences in milk iron or copper levels with time or infection. Milk zinc levels decreased significantly with time, but were not affected by infection. Maternal infection during the early postpartum period does not appear to adversely affect the initiation of lactation or milk protein and trace element contents.
Clinical significance and time course of antibodies to glutamic acid decarboxylase in Japanese children with type I (insulin‐dependent) diabetes mellitus
Authors: Sugihara S , Konda S , Wataki K , Kobayashi Y , Murata A , Miyamoto S , Kubo H , Yamaguchi A , Sasaki N , Niimi H
Published: January 2008

Although anti‐glutamic acid decarboxylase antibodies (GADAb) have been reported to be a useful diagnostic and predictive marker of insulin‐dependent diabetes mellitus (IDDM, type 1 DM) in Caucasians, a precise analysis of GADAb in Japanese children has not been reported. We examined the clinical significance and time course of GADAb in Japanese IDDM children, who have different genetic backgrounds from Caucasians. Twenty‐three of 34 (67.6%) sera from recent‐onset (<6 months) IDDM, and 16 of 49 (32.7%) sera from long‐standing (≥2 years) IDDM patients were positive for GADAb. This prevalence of GADAb in IDDM patients was significantly higher than in normal controls and the other groups including non‐insulin‐dependent DM. autoimmune thyroid disease and congenital hypothyroidism, and was also significantly higher in recent‐onset than in longstanding IDDM. Time course analysis suggested that autoimmune response against GAD could follow different courses in individual cases after the initiation of insulin therapy. The incidence of GADAb was significantly higher in females than in males in the older age group (11 15 years). Other clinical features including residual pancreatic β‐cell function after diagnosis were demonstrated to be similar between GADAb‐positive and ‐negative patients. In conclusion, this study using the newly established radioimmunoassay (RIA) for GADAb revealed a high prevalence of autoimmune reactivity to GAD in Japanese IDDM children. These results, using this RIA procedure, might assist in laying the groundwork for future trials of immunomodulation therapy for IDDM in Japan.
Low birthweight and neuromotor development: a population based, controlled study
Authors: Sommerfelt K , Ellertsen B , Markestad T
Published: January 2008

The aims of the study were to investigate: (a) the relationship between low birthweight (LBW) and preschool neuromotor development; and (b) the predictive value of various pre‐, peri‐, and neonatal factors for neuromotor development in LBW pre‐school children. A population based sample of 144 5‐year‐old LBW children (birthweight <2000g) with no major handicaps was compared with a random sample of 163 normal birthweight term controls. Using the Peabody Developmental Motor Scales, impaired performance on the balance scale was seen more often in LBW boys than in controls (odds ratio 5.5, 95% CI 1.5‐20.3), while performance on the eye‐hand coordination and locomotor scales was comparable for the two groups. LBW girls were comparable to controls on all these scales. On neurological examination, an increased frequency of minor neurological signs was found in LBW boys, while increased ankle tone and/or leg hyperreflexia was more common in LBW girls compared to controls. Small head circumference at birth was associated with an increased frequency of minor neurological signs in LBW boys, and lack of breastmilk in the neonatal period with impaired balance in LBW boys. None of the other pre‐, peri‐ or neonatal factors were predictive of neuromotor development. We conclude that motor functions essential for daily activities are intact in most LBW preschoolers.
Flexible fibre‐optic bronchoscopy in the management of lung complications in cystic fibrosis
Authors: Connett GJ , Doull IJM , Keeping K , Warner JO
Published: January 2008

Flexible fibre‐optic bronchoscopy was performed under sedation in 24 children with cystic fibrosis. In eight cases bronchoscopy was carried out as a therapeutic procedure. Most children were subjectively improved, but objective evidence of change was minimal. Useful information was obtained in 9/16 children who underwent the procedure for diagnostic purposes. Information included sensitive identification of organisms responsible for lower respiratory symptoms in non‐expectorating cases and identification of unsuspected gastro‐oesophageal reflux.
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers–Danlos syndrome
Authors: Prószyńska K , Wieczorek E , Olszaniecka M , Lorenc RS
Published: January 2008

We evaluated the potential of the carboxy‐terminal propeptide of type I procollagen (PICP), the carboxy‐terminal telopeptide of collagen I (ICTP), and the amino‐terminal propeptide of type III procollagen (PIIINP) to differentiate osteogenesis imperfecta (OI) from Ehlers Danlos syndrome (EDS) and idiopathic juvenile osteoporosis (IJO) in paediatric patients. Markedly decreased serum concentrations of PICP were found in type I OI, while in IJO they were much less diminished, and in EDS they were near to normal. In type III and IV OI, the serum PICP level was lowered in prepubertal patients, whereas at puberty it was comparable to that in controls. Serum ICTP and PIIINP levels in patients with OI did not differ significantly from the levels in EDS and IJO. Measurements of scrum PICP levels seem to be useful in discriminating OI from EDS and IJO in prepubertal children. In pubertal children, however, they lose their diagnostic power.
Antiepileptic drug treatment in pregnancy: drug side effects in the neonate and neurological outcome
Authors: Koch S , Jäger‐Roman E , Lösche G , Nau H , Rating D , Helge H
Published: January 2008

Antiepileptic drugs taken by pregnant epileptic women are known human teratogens. They may also cause pharmacological side effects in the newborn, i.e. sedation and or withdrawal symptoms. We examined the relationship between the maternal antiepileptic therapy, neonatal behaviour and later neurological functions in infancy. The study comprised 40 children exposed in utero to a single antiepileptic drug (phenobarbitone, phenytoin, valproic acid). Valproic‐acid‐exposed children were the highest compromised, except for apathy, which was most profound in phenobarbitone‐exposed neonates. Valproic acid serum concentrations at birth correlated with the degree of neonatal hyper‐excitability and neurological dysfunction when children were re‐examined 6 years later. We suggest that valproic acid may not only cause malformations but also cerebral dysfunction immediate and long term.
Neurological assessment of the preterm infant
Authors: Vries LS de
Published: January 2008

Coinciding with improved overall management of the very preterm infant, more techniques have become available to assess the neurological well‐being of these high‐risk infants. An overview is given of the different techniques which are now used in many neonatal intensive care units, and their value in predicting neurodevelopmental outcome is discussed. Attention is mainly focused on cranial ultrasound, electroencephalography and the different evoked potential modalities.
Reflex apnoea response and inflammatory mediators in infants with respiratory tract infection*
Authors: Lindgren C , Grögaard J
Published: January 2008

The reflex apnoea response to water stimulation was evaluated in infants with respiratory syncytial virus (RSV) infection and compared to the response in non‐infected infants who had sustained an apparent life‐threatening event (ALTE) or were siblings of infants who had died of sudden infant death syndrome (SIDS). RSV‐infected infants had a significantly (p < 0.05) reinforced reflex apnoea response compared with non‐infected infants. There was a significant negative correlation between the concentration of interleukin 1β (IL‐Iβ) in pharyngeal secretions and the duration of apnoea (p < 0.01). Increased clinical severity was, however, associated with high (>5.000 pg ml‐1) concentrations of IL‐l/J. There was no correlation between apnoea and interleukin 6. These findings may be relevant for the understanding of why apnoea may be the presenting symptom of RSV infection, and offer an explanation of why a proportion of SIDS cases has a history of mild respiratory tract symptoms prior to death.
A case‐control study of Salmonella gastrointestinal infection in Italian children
Authors: Borgnolo G , Barbone F , Scornavacca G , Franco D , Vinci A , Iuculano F
Published: January 2008

A case‐control study of 85 cases with non‐typhoid Salmonella gastroenteritis, 85 outpatient controls and 79 inpatient controls was conducted among children in Monfalcone, north‐east Italy, between June 1989 and June 1994. Logistic regression was used to evaluate the effect of demographic and socioeconomic characteristics, duration of breastfeeding, history of intestinal illnesses and household diarrhoea, and the recent use of antimicrobials. Breastfeeding was the single most important factor associated with a 5‐fold decreased risk of Salmonella infection. In addition, children who were treated with antimicrobials before onset of gastroenteritis had a 3‐fold increased risk. Low social class and history of other chronic non‐infectious intestinal diseases were also directly associated with illness.
Transposition of the great arteries in western Sweden 1964–83. Incidence, survival, complications and modes of death
Authors: Gilljam T
Published: January 2008

The records of all children with simple (n= 73) and complex (n= 35) transposition of the great arteries who were born in western Sweden during 1964‐83 were studied. The incidence was 0.24/1000 births. The preoperative mortality decreased from 100%, in 1964, before palliation was introduced, to 16% at the end of the study period. Sixty‐six underwent corrective procedures: 37 Mustard, 21 Senning, 3 arterial switch and 5 Rastelli operations. The perioperative mortality, which was 26% in simple transposition and 75% in complex, did not decrease significantly during the study period. Of 39 hospital survivors, eight Mustard and two Senning patients died late of baffle complications (n= 2), sudden death (n= 6), pulmonary vascular disease (n= 1) and systemic ventricle dysfunction (n= 1). The cumulative 20‐year survival was 32% in simple transposition and 17% in complex. In a pioneer population with transposition, long‐term survival was unsatisfactory. This was caused by continuing high perioperative mortality and late deaths.
Intrauterine growth curves based on ultrasonically estimated foetal weights
Authors: Maršál K , Persson P‐H , Larsen T , Lilja H , Selbing A , Sultan B
Published: January 2008

Available standard intrauterine growth curves based on birthweights underestimate foetal growth in preterm period. New growth curves are presented based on data from four Scandinavian centres for 759 ultrasonically estimated foetal weights in 86 uncomplicated pregnancies. Mean weight of boys exceeded that of girls by 2‐3%. A uniform SD value of 12% of the mean weight was adopted for the standard curves as the true SD varied non‐systematically between 9.1 and 12.4%. Applied to an unselected population of 8663 singleton births, before 210 days of gestation, 32% of birthweights were classified as small‐for‐gestational age (SGA; i.e. below mean ‐2SD); the corresponding figures were 11.1% for gestational ages between 210 and 258 days, and 2.6% for ages of 259 days or longer. The new growth curves reveal better the true distribution of SGA foetuses and neonates, and are suggested for use in perinatological practice.
Postmortem examinations in a statewide audit of neonatal intensive care unit admissions in Australia in 1992*
Authors: Sutton L , Bajuk B
Published: January 2008

The objectives of the investigation were (i) to study infants registered in a statewide audit of tertiary neonatal intensive care units in New South Wales, Australia in 1992 and who died, and (ii) to examine postmortem rates, quality of postmortem reports and compare clinical cause of death with postmortem report. Death rates, data on clinical cause of death and postmortem status were collected prospectively as part of the routine audit. Postmortem reports were examined by LS. Fifteen percent of the cohort died and 43% had a postmortem examination. The postmortem rate was highest in the 28‐36 week gestation group and in babies dying of pulmonary haemorrhage, intracranial haemorrhage or sudden infant death syndrome. Fewer than 50% of babies with a major congenital anomaly had a postmortem. The postmortem changed the major diagnosis in 10% of cases and added useful information in 17%. We conclude that postmortem examination should be an essential part of any audit of neonatal intensive care unit outcomes.
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia
Authors: Griffin TA , Hostoffer RW , Tserng K‐Y , Lebovitz DJ , Hoppel CL , Mosser JL , Kaplan D , Kerr DS
Published: January 2008

The mechanisms of hypocalcemia, recurrent infections and hypogammaglobulinemia associated with metabolic decompensation of propionic acidemia due to propionyl‐CoA carboxylase deficiency have not been defined. A 7‐week‐old infant with this disorder presented with severe hypocalcemia and B cell lymphopenia during an episode of metabolic acidosis and hyperammonemia. Hypocalcemia (1.1 mmoll 1) was associated with elevated serum intact parathyroid hormone (122 ng 1 1), hyperphosphatemia, hypophosphaturia and hypercalcuria, indicating parathyroid hormone resistance. B cell lymphopenia (20 cells μl‐1) was associated with transient neutropenia, anemia and subsequent hypogammaglobulinemia (IgG < 294mgdl‐1, IgM < 8mgdl‐1, IgA < 8mgdl 1), while T cells were normal. Parathyroid hormone resistance and B cell lymphopenia resolved following treatment with hemodialysis, diet and carnitine. These complications may be due to interference with parathyroid hormone renal tubular action and B cell maturation/proliferation by accumulated organic acids.
Fatal haemorrhagic gastritis associated with oral sulindac treatment for patent ductus arteriosus
Authors: Ng PC , So KW , Fok TF , To KF , Wong W , Liu K
Published: January 2008

We report the first case in a preterm infant given oral sulindac for treatment of symptomatic patent ductus arteriosus who subsequently developed severe acute haemorrhagic gastritis leading to disseminated intravascular coagulation, massive pulmonary haemorrhage and death. The postmortem examination suggested that the mechanism was likely a direct irritant insult causing ischaemia on the gastric mucosa. Although sulindac is supposed to be a renal‐sparing non‐steroidal anti‐inflammatory prodrug associated with minimal renal and gastrointestinal adverse effects, clinicans should be alerted to this potential life‐threatening complication in preterm infants. Until the question of safety could be adequately addressed, the use of sulindac for ductal closure should remain experimental.
Survival of orphans in 19th century Sweden—the importance of remarriages
Authors: Andersson T , Hogberg U , Åkerman S
Published: January 2008

The study aims at elucidating the fate of orphans in 19th century Sweden. A cohort of all children born in the region of Sundsvall was followed. The Cox regression model was used. The population increased 12‐fold in the sawmill parish, and doubled in the other parishes. Every 13th child lost either his or her mother or father. The death risk represented by being a motherless infant exceeded every other death risk for the child, and was further enhanced if parents were crofters or coming from the sawmill parish. For children beyond the age of 1 year, factors other than parental deprivation became decisive. Stepparents had an immense positive influence on the survival of the children. The social network worked relatively well for those children who were orphans beyond the age of 1 year. The motherless infants had the worst outcome. The best chance for survival was found for children with step‐parents.
Restricted catch‐up growth after cessation of steroid treatment in a growth‐hormone‐deficient child
Authors: Boersma B , Wit JM
Published: January 2008

The phenomenon of catch‐up growth has been known for a long time but its actual stimulus has remained unidentified. Involvement of growth hormone (GH) seems likely, but it is unknown whether normal GH secretion is an absolute prerequisite for catch‐up growth. We present insight to this topic by describing a child with GH deficiency who showed a biphasic pattern of catch‐up growth. During the first catch‐up phase, she showed restricted catch‐up growth in the absence of GH therapy, while she achieved nearly complete catch‐up with GH therapy. Both periods of catch‐up growth are compared separately with the response to GH therapy of age‐matched, GH deficient patients with similar height deficit. This observation suggests that the first phase of catch‐up growth in a child with severe growth retardation may be partially GH independent, while further catch‐up requires normal GH levels.
Screening for coeliac disease in apparently healthy blood donors
Authors: Grodzinsky E
Published: January 2008

As gliadin is a common food antigen for large people, we have developed an ELIS A for the detection of class‐specific antigliadin antibodies (AGA), with which sera from a large population of apparently healthy blood donors was analysed. A very high prevalence (1/256) of positive AGA was found. However, the positive predictive value (+PV) was found to be very low, 20% for IgA‐AGA and 0% for IgG‐AGA alone. When screening large populations with no or few symptoms, it is desirable to have a high +PV to avoid unnecessary biopsies. IgA antiendomyisum antibodies (IgA‐EM A) were evaluated both as a single test and in combination with IgA‐AGA. When screening individuals for CD in a population with no or few symptoms the easy and cheap IgA‐AGA assay should be used as a first test and the IgA‐EMA to verify the diagnosis and avoid unnecessary biopsies.
Coeliac disease: screened by a new strategy
Authors: Pittschieler K. , Ladinser B
Published: January 2008

The incidence of coeltac disease is different throughout Europe. The aim of our study was to investigate its true prevalence using antigliadin and endomysial antibodies in 4615 healthy adults within two different population groups in Northern Italy: 140 were positive for antigliadin antibodies (AGA), 111 only for AGA IgG, 17 for AGA IgA and 12 for IgG and IgA. Of those positive for AGA, nine had an abnormal small‐intestinal mucosa and were positive for endomysium antibodies (EmA) using the umbilical cord test, a novel methodology. The prevalence, 163/100 000 in the Italian group and 216/ 100 000 in the German group, is much higher that what was assumed. The positive predictive value of the EmA, confirmed by biopsy, is 100%, that of AGA IgG 2%, of AGA IgA 12% and of the combined AGA IgA and IgG 33%. AGA positive but EmA negative patients displayed normal histological features and distributions of α/β and γ/δ T‐cell receptors on intraepithelial lymphocytes. We can therefore conclude that antigliadin antibodies are not an ideal tool for screening purposes; the umbilical cord EmA test is superior owing to its optimal sensitivity, specificity, high positive predictive value and low cost.
Dietary compliance in screening‐detected coeliac disease adolescents
Authors: Fabiani E , Catassi C , Villari A , Gismondi P , Pierdomenico R , Rätsch IM , Coppa GV , Giorgi PL
Published: January 2008

In 1992–94 we screened 6315 students for coeliac disease (CD) by testing antigliadin antibodies (AGA) as the first‐level investigation. We found 28 biopsy‐proven coeliac patients who were invited to start the gluten‐free diet (GFD). The aim of this study was a clinical and laboratory follow‐up in these screening–detected coeliac adolescents. Patients were 17 females and 11 males with a mean age at diagnosis of 12.8 ± 1 years (range 11–14). Mean follow‐up duration time was 23 ± 7 months (range 9–37). Twenty‐three of the 28 screening‐detected coeliac patients came to the control visit, 3 refused the follow‐up and 2 subjects were not found. Twelve patients (52.2%) stated that they never ate any gluten‐containing food, while 11 of them (47.8%) reported occasional transgressions to the diet. GFD acceptance was reported as good (n= 6), moderate (n= 11) or low (n= 6). After starting the GFD, signs of improvement were seen in most patients, such as weight gain, increased height velocity and increased feeling of well‐being. AGA (both IgG and IgA classes) and antiendomysium antibodies (AEA) were normal in 19 subjects, 2 cases had IgG‐AG A and AEA positivity, 1 patient showed abnormal AGA and AEA levels, while isolated IgA‐AGA positivity persisted in 1 case. This study shows that even silent CD cases can clinically benefit from the GFD. The consequences of occasional transgressions to the GFD remain unclear.
Generalized lipodystrophy, congenital and acquired (lipoatrophy)
Authors: Seip M , Trygstad O
Published: January 2008

This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue is of pathogenetic importance. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinaemia, dyslipidaemia, and insulin‐resistant diabetes with an anabolic syndrome worsened by a voracious appetite. Clinically, we observed increased height velocity in pre‐school age children, and organomegaly with hypertrophic cardiomyopathy, which seems to be lethal in early adulthood: three of our patients died at the ages of 24,32 and 37 years. The oldest alive, 39 years, suffers from stenocardia. Regarding treatment, it is most important to reduce energy consumption. The congenital form is recessively inherited. The aetiology may be related to insulin receptor or postreceptor mechanisms. Acquired generalized lipodystrophy seems to be an autoimmune disorder with secondary destruction of the adipose organ; the anabolic syndrome with insulin‐resistant diabetes is secondary. Our patient died when 24 years old from pneumonia.
Studies of insulin resistance in congenital generalized lipodystrophy*
Authors: Søvik O , Vestergaard H , Trygstad O , Pedersen O
Published: January 2008

Two well‐characterized patients with congenital, generalized lipodystrophy have been studied by the euglycaemic hyperinsulinaemic clamp technique in combination with indirect calorimetry. Furthermore, glycogen synthase in muscle biopsies was studied in one patient with regard to enzyme activity, immunoreactive protein and mRN A levels. The patients had fasting hyperinsulinaemia, and the rate of total glucose disposal was severely impaired, primarily due to a decreased non‐oxidative glucose metabolism. In the patient studied with muscle biopsy, the expected activation of glycogen synthase by insulin did not occur. In both patients there was severely increased hepatic glucose output in the basal state, suggesting a failure of insulin to suppress hepatic gluconeogenesis. During insulin infusion a substantially elevated rate of lipid oxidation remained in the patients, in contrast to the almost completely suppressed lipid oxidation in the controls. It is concluded that patients with congenital generalized lipodystrophy may present severe insulin resistance with regard to hepatic glucose production as well as muscle glycogen synthesis and lipid oxidation. The results suggest a postreceptor defect in the action of insulin in congenital generalized lipodystrophy. The further localization of such a defect is hampered by the still incomplete understanding of the pathways that link insulin‐stimulated tyrosine phosphorylation to the ultimate action of insulin upon target cells.
Bone mineral density and metabolism in children with congenital hypothyroidism after prolonged l‐thyroxine therapy
Authors: Leger J , Ruiz J‐C , Guibourdenche J , Kindermans C , Garabedian M , Czernichow P
Published: January 2008

Abstract The effect of long‐term l‐thyroxine (LT4) replacement therapy on bone mineral density and on biochemical markers of bone turnover were studied in children with congenital hypothyroidism (CH). Forty‐four children and adolescents (mean age 8.5 ± 3.5 years) with primary CH who began LT4 replacement therapy within the first month of life were studied. Bone mineral density (BMD) of the lumbar vertebrae and the upper femoral bone was measured by dual energy X‐ray absorptiometry. Serum osteocalcin (OC) and bone alkaline phosphatase were measured as markers of bone formation and urinary deoxypyridinoline was taken as a marker of bone resorption. Bone mineral densities of CH children were not different from those in age‐matched controls. The biochemical markers of bone turnover were normal except for the serum OC levels which were found to be higher than in controls and positively correlated with the free thyroid hormone levels (for FT4 r= 0.42, p= 0.02). Eight CH children demonstrated low BMD values (below ‐1 SDS) at ‐ 2 ± 0.7 SDS for the lumbar spine and ‐ 1.6 ± 0.5 SDS for the femoral site. These eight children showed lower mean weight (p < 0.05) and their dietary calcium intake tended to be less (p < 0.06) than that seen in the normal BMD group. In conclusion, our results show that LT4 replacement therapy for 8 years is not detrimental to the skeletal mineralization of CH children. As in a healthy population, weight and current intake of calcium seem to be major determinants of bone density. Dietary recommendations, especially when calcium intake is below the recommended dietary allowance, may have to be reconsidered.
A simplified surfactant dosing procedure in respiratory distress syndrome: the “side‐hole” randomized study
Authors: Valls‐i‐Soler A , López‐Heredia J , Fernández‐Ruanova MB , Gastiasoro E
Published: January 2008

Abstract The aim of this study was to compare the incidence of acute adverse events and long‐term outcome of two different surfactant dosing procedures in respiratory distress syndrome (RDS). The effects of two surfactant dosing procedures on the incidence of transient hypoxia and bradycardia, gas exchange, ventilatory requirements and 28 d outcome were compared. The patients, comprising 102 infants (birthweight 600–2000 g) with RDS on mechanical ventilation with FiO2 0.4, were randomized at 2–24 h to receive 200 mg kg‐1 of Curosurf® in 56 it was given by bolus delivery, and in 55 by a simplified technique (dose given in 1 min via a catheter introduced through a side‐hole in the tracheal tube adaptor. The baby's position was not changed and ventilation was not interrupted). Two additional surfactant doses (100 mg kg‐1) were also given, by the same method, if ventilation with FiO2 0.3 was needed 12 and 24 h after the initial dose. The number of episodes of hypoxia and/or bradycardia was similar in both groups. A slight and transient increase in Paco2 was observed in the side‐hole group. The efficacy of the surfactant, based on oxygenation improvement, ventilator requirements, number of doses required and incidence of air leaks, was similar. No differences were observed in the incidence of intraventricular haemorrhage, patent ductus arteriosus, bronchopulmonary dysplasia or survival. In conclusion, a simplified surfactant dosing procedure not requiring fractional doses, ventilator disconnection, changes in the baby's position or manual bagging was found to be as effective as bolus delivery. The number of dosing‐related transient episodes of hypoxia and bradycardia was not decreased by the slow, 1 min, side‐hole instillation procedure.
The value of a scoring system for hypoxic ischaemic encephalopathy in predicting neurodevelopmental outcome
Authors: Thompson CM , Puterman AS , Linley LL , Hann FM , van der Elst CW , Molteno CD , Malan AF
Published: January 2008

Abstract A numeric scoring system for the assessment of hypoxic ischaemic encephalopathy during the neonatal period was tested. The value of the score in predicting neurodevelopmental outcome at 1 y of age was assessed. Forty‐five infants who developed hypoxic ischaemic encephalopathy after birth were studied prospectively. In addition to the hypoxic ischaemic encephalopathy score all but two infants had at least one cranial ultrasound examination. Thirty‐five infants were evaluated at 12 months of age by full neurological examination and the Griffiths Scales of Mental Development. Five infants were assessed at an earlier stage, four who died before 6 months of age and one infant who was hospitalized at the time of the 12 month assessment. Twenty‐three (58%) of the infants were normal and 17 (42%) were abnormal, 16 with cerebral palsy and one with developmental delay. The hypoxic ischaemic encephalopathy score was highly predictive for outcome. The best correlation with outcome was the peak score; a peak score of 15 or higher had a positive predictive value of 92% and a negative predictive value of 82% for abnormal outcome, with a sensitivity and specificity of 71% and 96%, respectively. For the clinician working in areas where sophisticated technology is unavailable this scoring system will be useful for assessment of infants with hypoxic ischaemic encephalopathy and for prognosis of neurodevelopmental outcome.