bluuebunny/crossref_metadata_2025_split huggingface dataset:
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia
Authors: Grigelioniené G , Eklöf O , Laurencikas E , Ollars B , Hertel NT , Dumanski JP , Hagenäs L 
Published: August 2010

Hypochondroplasia is characterized by a disproportionate short stature with rhizomelic shortening of the limbs. Amino acid substitutions Asn540Lys, Asn540Thr and Ile538Val in the fibroblast growth factor receptor 3 (FGFR3) are considered to cause hypochondroplasia. In this study we examined the FGFR3 gene for the previously described hypochondroplasia mutations and the phenotype of 23 probands with clinically and radiologically diagnosed hypochondroplasia. For the phenotype comparison, the patients were divided into two groups: Group 1: hypochondroplasia with Asn540Lys substitution; Group 2: hypochondroplasia with no mutations identified so far. A three‐generation family negative for the known hypochondroplasia mutations was examined with polymorphic markers flanking the FGFRI, FGFR2 and FGFR3 genes. Nine (39%) of 23 probands were found to be heterozygous for the Asn540Lys substitution. The individuals positive for the Asn540Lys substitution were significantly more disproportionate than the individuals without this mutation. In this respect, a genotype–phenotype correlation was found in our patients. However, some individuals belonging to the group without mutations identified so far showed similarly abnormal proportions. Genotyping/haplotyping in the three‐generation family with hypochondroplasia showed that FGFR1, FGFR2 and FGFR3 genes were not linked to the hypochondroplasia phenotype in this family, thus further confirming the genetic heterogeneity of hypochondroplasia. Conclusion: Individuals with hypochondroplasia heterozygous for the Asn540Lys substitution are significantly more disproportionate than individuals without this mutation. Our study further confirms the clinical and genetic heterogeneity of hypochondroplasia.
Topographic mapping of brain potentials in the newborn infant: the establishment of normal values and utility in assessing infants with neurological injury
Authors: Mandelbaum DE , Krawciw N , Assing E , Ostfeld B , Washburn D , Rosenfeld D , Hiatt M , Hegyi T 
Published: August 2010

Aim: To demonstrate that quantitative EEG (qEEG) can be used as a non‐invasive measure of brain injury by establishing normative data in term infants and contrasting it with other modalities of brain imaging. Design: qEEG during quiet sleep was performed on 13 healthy full‐term infants comprising a normal group and on 10 infants with neurological abnormalities identified on brain imaging studies (abnormal group) at 36–47 wk postconceptional age. Quantitative analysis was performed and topographic maps were produced for each patient. The EEG data from the normal group, after spectral analysis, yielded power data in the delta, theta, alpha, and beta frequency bands and coherence information, which then formed the normative database. qEEG from the infants in the abnormal group was then compared to this normative data. Results: The normal group's mean absolute power in the delta, theta, alpha, and beta bands for all EEG leads combined were 278.48 ± 83.83, 31.71 ± 10.12, 29.20 ± 2.04, and 35.76 ± 11.35 uv2, respectively. The median frequency was 1.49 ± 0.07, 5.45 ± 3.46, 9.74 ± 5.11, and 18.01 ± 3.38 Hz, respectively. The qEEG was abnormal in all 10 study infants, while abnormalities were noted in the clinical EEG in 4 of 10, in the neuroultrasound in 5 of 10, in the CT in one of 6, and in the MRI in 2 of 2 tested. Conclusions: qEEG appears to be a usefd non‐invasive method for measuring brain injury as it correlates well with other modalities of brain imaging and, if corroborated by further study, may, in fact, be more sensitive in determining abnormalities in brain function.
Risk factors for perinatal mortality in West Africa: a population‐based study of 20 326 pregnancies
Authors: Chalumeau M , Salanave B , Bouvier‐Colle M‐H , de Bernis L , Prua A , Bréart G 
Published: August 2010

The aim of the study was to identify simple clinical risk factors for perinatal mortality (PNM) in different areas of West Africa, to quantify their prevalence among pregnant women and to estimate their relative contribution in the definition of high‐risk status of PNM. The MOMA study was a prospective population‐based study in which data were collected on 20 326 pregnant women in various, primarily urban, areas of Burkina Faso, Ivory Coast, Mali, Mauritania, Niger and Senegal. The present report analyses 19 870 singleton births and 31 simple clinical variables with univariate and multivariate methods. The mean PNM ratio was 42 per 1000 total births, and 62% of these deaths were stillbirths. In the crude analysis, after adjustment or taking prevalence into account, the principal risk factors were: vaginal bleeding (immediately antenatal and intrapartum), hypertension (especially during labour), dynamic (prolonged labour and use of oxytocin) and mechanic (non‐cephalic presentation) dystocia, and infection (prolonged rupture of the membranes and intrapartum fever). Conclusions: Most of the principal risk factors for PNM cannot be detected during antenatal care visits but only in early labour. High‐risk status should not be based solely on antenatal care visits, but should also take into account monitoring during labour.
Establishment of intestinal microbial functions at birth: bilirubin and bacteria
Authors: Midtvedt T 
Published: August 2010

At birth, several “cross‐talks” are rapidly established between the child and its developing microflora. Bile pigments and bile acids represent host‐derived compounds that are acted upon by this microflora, thereby creating possibilities for several cross‐talks of both physiological and pathophysiological importance. The major aim of this article was to characterize and quantitate individually the bilirubin pigments by newly developed methods. The results clearly demonstrate that quantitative and qualitative alterations in bilirubin metabolism occur shortly after birth. Conclusion: It is hoped that the methodological improvements will create new interest in bilirubin and its metabolism in early infancy.
Effect of gender in response to an aerobic training programme in prepubertal children
Authors: Mandigout S , Lecoq AM , Courteix D , Guenon P , Obert P 
Published: August 2010

The aim of the present study was to investigate the gender effect of an endurance training programme on the maximal oxygen uptake (VO2max) of prepubertal children. The subjects comprised eighty‐five 10–11‐y‐old prepubertal children: 35 (17 girls, 18 boys; EG) were involved in a 13‐wk running training programme and 50 (22 girls, 28 boys; CG) served as a control group. Each subject carried out a continuous and progressive cycle ergometer test before and after the 13‐wk study period under the same conditions and procedures. Oxygen consumption, carbon dioxide, ventilation and heart rate (HR) were continuously monitored during the test The training programme consisted of interval and continuous long‐distance running (frequency: 3 times a week duration: 1 h per session, intensity: higher than 80% of maximal HR). VO2max significantly increased after the training programme for EG (before = 42.3 ± 7.7, after = 45.3 ± 7.5 ml.min‐1. kg‐1, p < 0.01), while no alterations were noticed for CG (before = 43.1 ± 6.7, after = 42.6 ±7.6ml.min‐1.kg‐1, p < 0.01). Such an increase was higher in the girls (+9.1%) than the boys (+4.6%). The lower initial fitness of the girls could explain this, however, because a significant relationship was found between the percentage of VO2max increase after training and the initial VO2max.The present longitudinal study shows that maximal oxygen uptake can increase in prepubertal children after an aerobic training programme and that such an increase is of the same order in boys and girls when the initial aerobic fitness is taken into account.
Incidence rate of recurrent Kawasaki disease and related risk factors: from the results of nationwide surveys of Kawasaki disease in Japan
Authors: Hirata S , Nakamura Y , Yanagawa H 
Published: August 2010

To investigate the incidence of recurrent Kawasaki disease, and to discuss some of the potential risk factors, data of the 13th and 14th nationwide surveys of Kawasaki disease in Japan were analyzed. To calculate the rate of recurrence, 10 679 patients with 31 501.9 person‐years were observed. The mean observation period was 2.95 y. The rate of recurrence was 6.89 per 1000 person‐years, with a high incidence within the 12 mo following the first episode. Conclusion: The incidence was high among those under 3 y of age and those with cardiac sequelae during the first episode. None of the other factors affected the incidence.
The Paediatric Asthma Caregiver's Quality of Life Questionnaire in Swedish parents
Authors: Reichenberg K , Broberg AG 
Published: August 2010

With the Paediatric Asthma Caregiver's Quality of Life Questionnaire (PACQLQ), parents grade impaired activities (5 items) and emotional concern (8 items) from 1 to 7 regarding how much their own quality of life (QoL) has been affected by the disease of their child during the last week. The questionnaire was translated into Swedish. To test the feasibility and validity of the Swedish version, 71 asthmatic children and their families were approached. Sixty‐one families (86%) participated. The mean age of the children was 8.7 y. Parental grading of symptoms (Spearman's rho = 0 637, p < 0.001), the asthma‐specific QoL of the child (rho = 0.359, p = 0 002) and gradings of asthma from medical records (mild asthma median score 6.69, moderate 6.27 and severe 5.12, p= 0.001) were all related to overall PACQLQ scores.The sex of the child, the presence of other diseases related to allergy, peak flow rate (PEFR) and socio‐economic level did not affect the scores. Lower scores in the emotional domain were seen in parents of children on steroids (p = 0.049). The distribution of scores was heavily skewed towards the positive end of the scale, leading to limited power to discriminate among parents of children with mild asthma. The instrument had good internal consistency and was well accepted by the parents.
Breastfeeding duration and previous breastfeeding experience
Authors: Nagy E , Orvos H , Pál A , Kovács L , Loveland K 
Published: August 2010

The aim of this study was to examine the effect of duration of earlier breastfeeding on the duration of breastfeeding with subsequent births. Medical records of 327 women who had had at least two deliveries were analysed; 89 of these women had had three deliveries. The average duration of breastfeeding increased from 6.01 mo to 6.85 mo with the second baby, but did not increase significantly with the third. A significant negative correlation was found between duration of first breastfeeding and change of breastfeeding duration at the second breastfeeding. Mothers who breastfed their first child for 0–7 mo significantly increased the duration of breastfeeding with the second child, whereas mothers who breastfed their firstborn for 8 mo or longer significantly reduced breastfeeding with the second baby. Conclusion: Results support earlier studies showing that duration of breastfeeding of the second child is significantly related to previous breastfeeding experience. Results also suggest that previous breastfeeding experience may lead mothers to regulate duration of subsequent breastfeeding toward a level that is optimal for them. The results are interpreted with respect to societal changes in breastfeeding patterns, as well as the role of maternal learning in breastfeeding behaviour.
Socio‐demographic risk factors for home‐type injuries in Swedish infants and toddlers
Authors: Hjern A , Ringbäck‐Weitoft G , Andersson R 
Published: August 2010

In this paper we use data from Swedish national registers to study socio‐demographic patterns of hospital admissions as a result of injuries sustained at home (poisoning, falls, scalding and ingestion/intrusion of foreign objects) in children 0–3 y. The study population comprised 546 336 children born in Sweden during the period 1987–91. The different injury mechanisms peaked at different ages: ingestion of foreign objects at 10–12 mo, scald injuries at 13–15 mo, non‐drug poisoning at 16–18 mo and drug poisoning at 24–30 mo. In a multivariate analysis it was demonstrated that children of young mothers (<24 y) were more likely to have been admitted to hospital because of fall injuries and poisonings, while children with more than two siblings had a slightly increased risk for all injuries. Children of mothers born in a non‐western country were more likely to have been admitted to hospital because of scald injuries; odds ratio (OR) 1.7 (95% CI: 1.4–2.1), while they were less likely to have been admitted because of fall injuries; OR 0.8 (0.7–0.8) and non‐drug poisoning; OR 0.5 (0.4–0.6). Children in families who received social welfare benefits were more likely to have been admitted to hospital because of fall injuries; OR 1.3 (1.2–1.4), drug poisoning; OR 1.8 (1.7–2.0), non‐drug poisoning; OR 1.4 (1.3–15) and scald injuries; OR 1.1 (1.1–1.5), while injuries with ingestion/intrusion of foreign objects tended to vary little with socio‐economic indicators. Conclusion: Infants and toddlers in families with young mothers and in families on social welfare are at particular risk for home injuries in Sweden. The knowledge that the risk of poisoning, scalding and ingestion of foreign objects is related to specific ages can be used in timing of parent counselling.
Bilirubin‐IX α and ‐IX β pigments, coproporphyrins and bile acids in meconium and stools from full‐term and preterm neonates during the first month of life
Authors: Aziz S , Kotal P , Leroy P , Servaes R , Eggermont E , Fevery J 
Published: August 2010

Individual bilirubin pigments in the excreta were quantitated by newly developed methods. In meconium, bilirubin‐IX β predominated, whereas bilirubin‐IXγ and ‐IXδ remained undetectable. The daily excretion of bilirubin‐IXα plus ‐IXβ was 0.03–1.00 and 0.04–2.00 μmoles kg1 of birthweight in preterm and full‐term infants, respectively. The ratio of bilirubin‐IXα to ‐ IXβ in meconium was 0.25 ± 0.34, 0.32 ± 0.30 and 0.46 ± 0.55 in newborns of gestational ages below 30, from 31 to 36 and above 36 wk, respectively. The predominance of bilirubin‐IXβ disappeared within the first week in those with gestational age ± 31 wk but more slowly in the very preterm group. The ratio of monoconjugated to diconjugated bilirubin‐IXα was 4 to 5 in full‐term infants, whereas this ratio was only reached after 1 mo in preterm infants. The ratio of glucuronide or glucoside to xyloside varied widely, independent of gestational age. No correlation between faecal UCB‐IXα and β‐glucuronidase was observed. The daily coproporphyrin excretion fell from a median of 500 μg on day 1 to below 20 μg from day 7 onwards; this decrease correlated with that of bilirubin‐IXβ. The daily 3α‐hydroxylated bile acid loss in the excreta was two‐ to fivefold higher than in the adult; this, together with the higher neonatal serum levels (12–90 nmoles ml‐1), indicates an immature intestinal reabsorption and an enhanced bile acid synthesis. Conclusion: Both zinc coproporphyrin and bilirubin‐IXβ are characteristic compounds of human meconium, diconjugated bilirubin‐IXα is low or absent in meconium of very preterm infants, and faecal and serum bile acids are high.
Aetiology and outcome of pneumonia in human immunodeficiency virus‐infected children hospitalized in South Africa
Authors: Zar HJ , Hanslo D , Tannenbaum E , Klein M , Argent A , Eley B , Burgess J , Magnus K , Bateman ED 
Published: August 2010

To determine the aetiology and outcome of pneumonia in human immunodeficiency virus (HIV)‐infected children, we prospectively investigated 250 children hospitalized with pneumonia who were known or clinically suspected to be HIV‐positive, or who required intensive care support in Cape Town, South Africa. Blood culture, induced sputum or bronchoalveolar lavage nasopharyngeal aspirate and gastric lavage were performed. Of the total, 151 children (60.4%) were HIV‐infected. Pneumocystis carinii pneumonia (PCP), occurring in 19 (7.6%) children (15 HIV‐positive), was the AIDS‐defining infection in 20.3%. The incidence and type of bacteraemia (14.3%) were similar in HIV‐positive and HIV‐negative patients; S. pneumoniae (5%) and S. aureus (2%) were the predominant isolates. Sputum or BAL cultures yielded bacteria in 145 of 243 (60%) specimens; viruses were cultured in 37 (15.2%). Bacterial prevalence (including M. tuberculosis in 8%) and anti‐microbial resistance did not differ by HIV status except for S. aureus which was more common in HIV‐infected children. Thirty‐one (20%) HIV‐positive and 8 (8%) HIV‐negative children died [RR 1.16 (95% CI 1.05–1.28), p= 0.008]; using multiple logistic regression, PCP was the only risk factor for mortality (p= 0.03). Conclusion: In South Africa, PCP is an important AIDS‐defining infection in children; bacterial pathogens occur commonly and with a similar prevalence in HIV‐positive and HIV‐negative children hospitalized for pneumonia. HIV‐infected children with pneumonia have a worse outcome than HIV‐negative patients.
Plasma thrombomodulin levels in children with atopic dermatitis
Authors: Yoshijima S , Kojima T , Sasai M , Hattori K , Taniuchi S , Kobayashi Y 
Published: August 2010

Plasma thrombomodulin (TM) levels were measured in 68 patients with atopic dermatitis (AD) and 35 controls. Plasma TM levels in patients with AD were significantly higher than those of controls (p < 0.01). A significant correlation was observed between plasma TM levels and skin scores of AD or peripheral eosinophil counts (p < 0.01). There was also a positive correlation between plasma TM and vascular cell adhesion molecule‐1 levels (p < 0.05). Conclusion: These results suggest that plasma TM levels may reflect a severity of AD and/or endothelial cell activation induced by an allergic inflammation.
Short‐term effects of severe hypoglycaemia in children and adolescents with type 1 diabetes. A cost‐of‐illness study
Authors: Nordfeldt S , Jonsson D 
Published: August 2010

The aim of this study was to describe costs and other short‐term effects of severe hypoglycaemia in children and adolescents with type 1 diabetes. The study comprised a geographic population of 129 patients <19y of age with families prospectively registering detailed data after self‐reported severe hypoglycaemia. In the period Jan.‐Dec. 1998, 16 events were reported with unconsciousness and 95 events without unconsciousness but needing the assistance of another person. Of all events, 20–30% had effects requiring the assistance of people other than parents, school absence, parents' absence from work, extra transport and/or telephone calls. Patient (family) activities were cancelled after 10% (5%) of events. Increased worry for parents was reported after 8% and poor sleep after 7% of events. Hospital visits took place at 5% and hospitalizations at 3% of all events. Patients with severe hypoglycaemia indicated lower global quality of life (p= 0.0114). The average socio‐economic burden for events of severe hypoglycaemia was estimated at EURO 17 400 yearly per 100 type 1 diabetes patients. Average cost was estimated at EURO 239 per event of severe hypoglycaemia with unconsciousness or EURO 478 yearly per patient with unconsciousness, and EURO 63 per event of severe hypoglycaemia without unconsciousness but needing assistance from another person or EURO 307 yearly per patient in this category. These are conservative estimates and do not include unpaid time and other intangibles, possible road traffic accidents, disabling or premature deaths. Conclusions: The results suggest the potential for socio‐economic savings and increased quality of life for patients and families from severe hypoglycaemia prevention programs.
Generalization of back education principles by elementary school children: evaluation with a practical test and a candid camera observation
Authors: Cardon G , De Bourdeaudhuij I , De Clercq D 
Published: August 2010

The efficacy of back education in elementary school children was shown using a practical test. Similar results in a candid camera evaluation were questioned. The purposes of this study were (i) to explore the relationship between the results of a practical test and the results of a candid camera procedure when evaluating back education principles, and (ii) to investigate whether in a candid camera procedure scores are still better in pupils who followed a back education programme than in controls. A candid camera evaluation followed by a practical test was performed in 71 pupils who had participated in a back education programme and 60 controls. Correlations between the two evaluation methods were significant but weak for 5 of the 9 test items in the intervention group (Rs 0.26–0.46) and for 7 test items in the control group (Rs 0.38–0.58). The difference in sum scores between the evaluation methods was significantly higher in the intervention group than in the control group (p < 0.001). The intervention group scored higher than the control group for 8 practical test items and 7 candid evaluation items. Conclusion: The study results question the use of a practical test for the individual evaluation of back education principles but show the usefulness of a practical test to study programme efficacy. As some principles seem to have become a habit, while for the implementation of others the pupils need external stimuli, the effects of more specific guidelines for parents and teachers to generalize back education principles require further study.
Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants
Authors: Fugelseth D , Guthenberg C , Hagenfeldt L , Liestøl K , Hallerud M , Lindemann R 
Published: August 2010

The aim of this study was to investigate if an open ductus venosus representing a portal‐caval shunt can lead to transient “alimentary galactosaemia” in preterm infants fed human breast milk. Twenty‐six preterm infants (28–34 wk of gestational age) with open ductus venosus were included. Capillary blood samples for measurement of galactose and glucose were collected before, 30 and 50 min after a meal with breast milk (range 12–23 mL/kg). Ultrasound studies of the blood flow in the ductus venosus, truncus coeliacus, superior mesenteric artery and left hepatic vein were performed before and 30 min after the meal. There was a significant rise in blood glucose after 30 and 50 min, indicating a sufficient lactose load. Galactose, however, was either not detectable or was just above the detectable limit (0.1–0.4 mmol/L), with no changes after the meal. An increased flow velocity was found in the ductus venosus and superior mesenteric artery after 30 min (p≫ 0.001) indicating increased entero‐hepatic and portal‐caval shunting. Conclusion: A patent ductus venosus does not lead to a significant hypergalactosaemia in preterm infants fed human breast milk. Thus, in respect to breast‐milk feeding, this is regarded safe in healthy preterm infants even with an open ductus venosus. The increased portal‐caval shunting may, however, influence the hepatic metabolism of other enterally absorbed substances.