bluuebunny/crossref_metadata_2025_split huggingface dataset:
Wolcott‐Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature
Authors: Iyer S , Korada M , Rainbow L , Kirk J , Brown RM , Shaw N , Barrett TG 
Published: August 2010

Background: Wolcott‐Rallison syndrome is a rare autosomal recessive condition characterized by early infancy onset diabetes mellitus and multiple epiphyseal dysplasia. So far, 17 children have been described in the world literature. Recently, mutations in the gene encoding EIF2AK3 have been shown to segregate with the syndrome in three affected families. Aims: We aimed to describe the clinical characterization and mutation analysis of a further child, and full clinical and follow‐up details on our first family including the longest surviving child. Methods: Retrospective case notes review of three children presenting to the diabetic unit at our institution; mutation analysis of the EIF2AK3 gene in our most recent patient; and review of the literature on Wolcott‐Rallison syndrome. Results: Previously unreported phenotypic features in our patients included developmental regression after episodes of hepatic failure, and pachygyria on brain imaging. We have identified a novel 4‐base pair deletion (nt 3021–3024 del GAGA) in exon 13, which results in a frameshift and premature stop codon (R908 F/S +22X), causing premature truncation of the protein and abolition of the carboxy‐ segment of the catalytic domain. Conclusions: Wolcott‐Rallison syndrome causes early‐onset diabetes and acute hepatic failure, before epiphyseal dysplasia is manifest. We have identified a novel mutation in EIF2AK3, and prenatal diagnosis may now be offered to affected families.
Selective neonatal BCG vaccination
Authors: Bakshi D , Sharief N 
Published: August 2010

Aims: To assess the implementation of the “Selective Neonatal BCG Immunisation Policy”, and to study the causes of non‐compliance, or failure of uptake of BCG immunization. Methods: The Birth Register data were used to generate a list of babies born in the catchment area of Basildon and Thurrock NHS Trust between 1 January 2001 and 31 December 2001 who were eligible for BCG immunization. The Community Child Health computer was used to generate information about their BCG immunization status. Results: 201 children were included in the study. One hundred and seventy‐one children had received BCG immunization in the neonatal period, out of which 169 had received it before discharge from the hospital. Two children were immunized in the community in the neonatal period. Thus, 85% of the newborns eligible for BCG immunization received their vaccination in the neonatal period. Conclusions: The current “Neonatal BCG Immunisation Policy” is effective, and there is a high uptake of the vaccine in the neonatal period within the hospital itself. Newborn infants who do not receive BCG immunization in hospital rarely get immunized in the community.
Breathing patterns in term infants delivered by caesarean section
Authors: Bader D , Riskin A , Paz E , Kugelman A , Tirosh E 
Published: August 2010

Aim: To compare the breathing patterns of infants born by elective caesarean section to those infants delivered by caesarean section after a failed trial of labour. Methods: Healthy term infants born by caesarean section were studied. The study group (n= 13) had no trial of labour, whereas infants in the control group (n= 13) failed a trial of labour. Polysomnographic study was performed at 36 h of age. Heart and respiratory rate, type and duration of apnoeas, arterial oxygen saturation and lower limb movements were analysed. Results: Term infants born by elective caesarean section had a shorter duration of pregnancy and weighed less. Their heart rate was faster, they had more mixed apnoeas, and during quiet sleep they had more central apnoeas of longer duration. Conclusion: Cardiorespiratory patterns in infants delivered by elective caesarean section are different from those delivered by caesarean section after a failed trial of labour.
Breastfeeding, very long polyunsaturated fatty acids (PUFA) and IQ at 6/4 years of age
Authors: Gustafsson PA , Duchén K , Birberg U , Karlsson T 
Published: August 2010

Aim: Breastfeeding seems to be favorable for cognitive development. Could levels of polyunsaturated fatty acids (PUFA) explain this?Methods: Pregnant mothers were recruited consecutively at maternity care centres. PUFA were analysed in colostrum and breast milk at 1 and 3 mo. The product‐precursor ratios of n‐6+n‐3 PUFA were examined as measures of activity in respective steps in the fatty acid metabolic chain. Also, the quotient between DHA and AA was analysed. The children were tested with the full WISC‐III at 6.5 y. Results: First, the influence of length of breastfeeding was analysed by multiple regression together with relevant cofactors (except for PUFA). In the best models, 46% of the variation in total IQ was explained. Length of breastfeeding contributed significantly to total IQ (beta = 0.228, p= 0.021), verbal IQ (beta = 0.204, p= 0.040) and performance IQ (beta = 0.210, p= 0.056). There were no significant single correlations between PUFA and measures of cognitive development. However, in multiple regression analysis of colostrum, significant beta‐coefficients were found for steps 4+5 in the fatty acid metabolic chain (beta = 0.559, p= 0.002). If length of breastfeeding and gestation week were added to steps 4+5, this three‐factor model could explain 67% of the variation of total IQ. Introducing length of breastfeeding and gestation week together with the quotient DHA/AA (beta = 0.510, p > 0.001) yielded a three‐factor model, which explained 76% of the variation in total IQ. Conclusion: Our findings could be interpreted as supporting the importance of high levels of PUFA for cognitive development. However, the sample is small and the results must be interpreted with caution.
Pulmonary outcome in adolescents of extreme preterm birth: a regional cohort study
Authors: Halvorsen T , Skadberg BT , Eide GE , Røksund O Drange , Carlsen KH , Bakke P 
Published: August 2010

Aims: The pulmonary outcome of extreme prematurity remains to be established in adults. We determined respiratory health and lung function status in a population‐based, complete cohort of young preterms approaching adulthood. Methods. Forty‐six preterms with gestational age ±28 wk or birthweight ±1000g, born between 1982 and 1985, were compared to the temporally nearest term‐born subject of equal gender. Spirometry, plethysmography, reversibility test to salbutamol and methacholine bronchial provocation test were performed. Neonatal data were obtained from hospital records and current symptoms from validated questionnaires. Results: When entering the study at a mean age of 17.7 (SD: 1.2) y, a doctor's diagnosis of asthma and use of asthma inhalers were significantly more prevalent among preterms than controls (one asthmatic control compared to nine preterms, all but one using asthma inhalers). Peak expiratory flow (PEF) and forced expiratory volume in 1 s (FEV1) were decreased and the discrepancies relative to controls increased parallel to increased severity of neonatal lung disease. Parameters of increased neonatal oxygen exposure significantly predicted FEV1. Adjusted for height, gender and age, FEV1 was reduced by a mean of 580 ml/s in subjects with a history of bronchopulmonary dysplasia. Fifty‐six percent of preterms had a positive methacholine provocation test compared to 26% of controls. Conclusion: A substantially decreased FEV1, increased bronchial hyperresponsiveness and a number of established risk factors for steeper age‐related decline in lung function were observed in preterms. A potential for early onset chronic obstructive pulmonary disease is present in subsets of this group.
Birthweight of full‐term infants is associated with cord blood CD34+ cell concentration
Authors: Aroviita P , Teramo K , Hiilesmaa V , Westman P , Kekomäki R 
Published: August 2010

Aim: CD34+ cell counts are used to define the haematopoietic stem cell potential of a given cord blood transplant. The aim was to test the hypothesis that high concentration of cord blood haematopoietic progenitor and stem cells could be a reflection of intrauterine growth, of which birthweight is an indicator. Methods: Simple and multiple regression analyses were applied to test cord blood bank data on 1368 infants for associations of selected obstetric factors and cellular contents of cord blood. Results: When groups were formed based on the extreme values (5th versus 95th percentiles) of a given variable, e.g. birthweight, the term infants having the highest birthweights were found to have statistically significantly higher median cord blood CD34+ cell concentrations. Also, infants in the top 50th percentile of relative birthweight had higher median CD34+ cell concentration than infants in the low 50th percentile. In multiple regression analysis, the correlation between birthweight and CD34+ cell concentration was statistically clearly significant. Notably, while an expected correlation between gestational age and nucleated cell concentration was found, there was no association between infant gestational age and CD34+ cell concentration. Conclusion: Haematopoietic progenitor and stem cells may reflect intrauterine growth and have a more central role in foetal development than has been reported earlier.
Re‐hospitalization in infants younger than 29 weeks’ gestation in the EPIPAGE cohort
Authors: Lamarche‐Vadel A , Blondel B , Truffert P , Burguet A , Cambonie G , Selton D , Arnaud C , Lardennois C , du Mazaubrun C , N'Guyen S , Mathis J , Bréart G , Kaminski M ,   The EPIPAGE Study Group
Published: August 2010

Aim: To estimate the re‐hospitalization rate of extremely preterm children during infancy and associated factors after the recent improvement in survival rates. Method: The cohort included all children born before 29 wk of gestation in nine French regions in 1997. All admissions between discharge from initial hospitalization and 9 mo after birth were considered. Factors studied included the child's characteristics at birth and during neonatal hospitalization, risk factors for infection after discharge and parents' socio‐demographic characteristics. Adjusted odds ratios (aOR) for re‐hospitalization for all reasons and for respiratory disorders were obtained from logistic regression models. Results: Of the 376 children, 178 were re‐admitted at least once (47.3%; 95% CI: 42.3–52.4). Fifty‐five percent of the hospitalized children were admitted at least once for respiratory disorders. The re‐hospitalization rate was higher for children who had had chronic lung disease (aOR: 2.2; 95% CI: 1.3–3.7), those initially discharged between August and October (aOR: 2.5; 95% CI: 1.2–5.1) or between November and January (aOR: 3.2; 95% CI: 1.5–6.8), and children living with other children under six (aOR: 3.4; 95 %CI: 1.6–7.5). Re‐hospitalizations were associated with neither gestational age nor the duration of neonatal hospitalization. Adjusted odds ratios for re‐hospitalization for respiratory tract disorders were very similar to those for the overall hospitalizations. Conclusion: Infants born before 29 wk have a very high risk of re‐hospitalization. The associated factors can help define high‐risk groups at discharge from the neonatal unit who need special surveillance.
Maternal predictors of subcutaneous fat in the term newborn
Authors: Guihard‐Costa A‐M , Papiernik E , Kolb S 
Published: August 2010

Aim: To determine the relative influences of some maternal factors on skinfold thickness. The effects of age, parity, height, body mass index (BMI) and pregnancy weight gain (PWG) of the mother on the subscapular skinfold thickness (SST) of the newborn were estimated, and compared with their effects on birthweight (BW), crown‐heel length (CHL) and head circumference (HC). Methods: A sample of 13, 972 healthy, term singletons was selected at the Clamart Maternity Hospital (France). Stepwise regressions were used to determine the most predictive maternal factors for each parameter in the newborn. The respective effects of the mother's age and parity on each newborn dimension were tested by analysis of variance. Results: The SST is a singular parameter, influenced by the mother's BMI and PWG, but not by her height. In contrast, the main predictor of BW, CHL and HC is the height of the mother, and to a lesser extent her PWG and BMI. Parity and maternal age have a smaller effect, except on SST, and essentially between the first and second pregnancies. Conclusion: These results clearly separate SST from other newborn dimensions. The skinfold thickness depends only on the nutritional status of the mother, while other dimensions are markedly influenced by the genetic background. This study is the first to demonstrate the singularity of skinfold thickness in newborn infants as a marker of the mother's nutritional status.
Barth syndrome without 3‐methylglutaconic aciduria
Authors: Schmidt M Rahbek , Birkebaek N , Gonzalez I , Sunde L 
Published: August 2010

Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3‐methylglutaconic (3‐mgc) aciduria. 3‐mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3‐mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
Randomized controlled trial of skin‐to‐skin contact from birth versus conventional incubator for physiological stabilization in 1200‐ to 2199‐gram newborns
Authors: Bergman NJ , Linley LL , Fawcus SR 
Published: August 2010

Aim: Conventional care of prematurely born infants involves extended maternal‐infant separation and incubator care. Recent research has shown that separation causes adverse effects. Maternal‐infant skin‐to‐skin contact (SSC) provides an alternative habitat to the incubator, with proven benefits for stable prematures; this has not been established for unstable or newborn low‐birthweight infants. SSC from birth was therefore compared to incubator care for infants between 1200 and 2199 g at birth. Methods: This was a prospective, unblinded, randomized controlled clinical trial; potential subjects were identified before delivery and randomized by computerized minimization technique at 5 min if eligible. Standardized care and observations were maintained for 6 h. Stability was measured in terms of a set of pre‐determined physiological parameters, and a composite cardio‐respiratory stabilization score (SCRIP). Results: 34 infants were analysed in comparable groups: 3/18 SSC compared to 12/13 incubator babies exceeded the pre‐determined parameters (p < 0.001). Stabilization scores were 77.11 for SSC versus 74.23 for incubator (maximum 78), mean difference 2.88 (95% CI: 0.3–5.46, p = 0.031). All 18 SSC subjects were stable in the sixth hour, compared to 6/13 incubator infants. Eight out of 13 incubator subjects experienced hypothermia.Conclusion: Newborn care provided by skin‐to‐skin contact on the mother's chest results in better physiological outcomes and stability than the same care provided in closed servo‐controlled incubators. The cardio‐respiratory instability seen in separated infants in the first 6 h is consistent with mammalian “protest‐despair” biology, and with “hyper‐arousal and dissociation” response patterns described in human infants: newborns should not be separated from their mothers.
Methicillin‐resistantStaphylococcus aureusbacteraemia in neonatal intensive care units: an analysis of 90 episodes
Authors: Chuang Y‐Y , Huang Y‐C , Lee C‐Y , Lin T‐Y , Lien R , Chou Y‐H 
Published: August 2010

Aim: To delineate the clinical features of methicillin‐resistantStaphylococcus aureus(MRSA) bacteraemia in infants hospitalized at the neonatal intensive care unit.Methods: Episodes of MRSA bacteraemia in Chang Gung Children's Hospital neonatal intensive care unit from 1997 to 1999 were reviewed for incidence, predisposing factors, clinical presentations, treatment and outcome.Results: Ninety episodes of MRSA bacteraemia were identified. The overall rate of MRSA bacteraemia was 1.05 per 1000 patient days during the 3‐y period. Most of the patients were premature infants (76%), with prior operation or invasive procedures (39%), had an indwelling intravascular catheter (79%) and exposure to antibiotic therapy (96%). A localized cutaneous infection was found in 53.3% of the episodes. The most common clinical diagnoses were catheter‐related infections (54.4%), skin and soft tissue infections (21.1%), bacteraemia without a focus (20%) and pneumonia (16.7%). Metastatic infection occurred in 18% of these infants. Among the patients treated with vancomycin for ±14d, 88.7% did not develop any complications, and 11.3% developed a recurrence.Conclusions: MRSA is an established pathogen in our NICU. MRSA bacteraemia in the neonates predominantly presented as catheter‐related infections, and metastatic infections were not infrequently seen. In uncomplicated MRSA bacteraemia, treatment with vancomycin for ±14 d seems to be adequate.
Relationship of maternal autoimmune response to clinical manifestations in children with congenital complete heart block
Authors: Eronen M , Miettinen A , Walle TK , Chan EKL , Julkunen H 
Published: August 2010

Objective: To study the autoimmune response in mothers of children with congenital heart block (CHB) diagnosed at different ages and with different clinical manifestations. Patients and methods: Clinical data and sera for the determination of immunological tests were available from 104 mothers of 113 children born between 1950 and 2000 and diagnosed with CHB before the age of 16 y. Prenatal diagnosis was performed in 74 (65%) children of 65 mothers, and 39 (35%) children had postnatal diagnosis of CHB. Maternal antibodies to 52 kd and 60 kd SS‐A, and to 48 kd SS‐B were determined by time‐resolved fluoroimmunoassay (TR‐FIA) and to antinuclear antibodies (ANA) by immunoflurescense (IF). Results: Out of the 65 mothers of children with in utero diagnosed CHB, 88% had antibodies to 52 kd SS‐A and 83% had ANA. Antibodies to 60 kd SS‐A and 48 kd SS‐B were less frequently present, in 48% and in 54% of the mothers, respectively. Seven (11 %) of the mothers were negative by all immunoassays. Of the 13 mothers of children with in‐infancy diagnosed CHB, one mother had high‐titer ANA. After 1 y of age, CHB was diagnosed in 26 children; at 1 to 6 y in 16 and after 7 y in 10 children; 1/16 and 1/10 patients had positive antibodies. In all twin pregnancies (n= 4) and in all families with recurring cases of CHB (n= 5), maternal antibodies were positive in at least one assay. The titer of 48 kd anti‐SS‐B antibodies was significantly higher in children with cutaneous neonatal lupus (98.1 vs 41.0; p= 0.02). All mothers whose children died before the age of 4 y (n= 8) and 85 % (11/13) of mothers whose children developed cardiomyopathy had elevated antibody titers in at least one assay. However, we could not find any prognostic value of maternal antibody levels or specificities on the clinical outcome of the children with CHB.Conclusions: Although rare, late detection or postnatal progression of CHB in antibody‐mediated CHB should be taken into consideration. Maternal antibody levels or specificities have prognostic effect neither on the clinical outcome of the child with CHB nor on the risk of reappearance in the same family.
Prevalence and significance of minor anomalies in children with impaired development
Authors: Ulovec Z , Šoši± Z , Škrinjari± I , ±atovi± A , Čivljak M , Szirovicza L 
Published: August 2010

Aim: To compare the prevalence of Waldrop's minor physical anomalies in children with developmental disorders (mental retardation, hearing and visual impairment) and healthy schoolchildren. Methods: The study was carried out on a sample of 469 children (223 children with developmental disorders and 246 healthy schoolchildren). Results: Significant differences were found between the children with developmental disorders and the healthy children with regard to the number of minor anomalies and their weighted scores according to Waldrop. Multivariate discriminant analysis with two discriminative functions explained as much as 96.51% of the total variability and significantly distinguished the healthy children from the children with developmental disorders. However, no clear distinction was found between the mentally retarded children and those with visual impairment. Interrelation of the number and sum of the weighted scores of minor anomalies showed similar minor anomalies in the mentally retarded children (mean per person 3.65 and 3.82, respectively), the children with visual impairment (3.24 and 3.50), the children with hearing impairment (3.84 and 3.67) and the control group (1.70 and 1.46), although at different levels.Conclusions: The high prevalence of multiple minor anomalies in children with developmental disorders suggests that during early development, factors which cause the specific developmental disorder and the occurrence of a minor anomaly have a joint effect.
How much glutamate is toxic in paediatric parenteral nutrition?
Authors: Hermanussen M. , Tresguerres J. A. F. 
Published: August 2010

Abstract Aim: To discuss a hypothesis regarding the impact and possible side effects of glutamate in paediatric parenteral nutrition. Results: Published evidence suggests that the arcuate nucleus, which is a potent site of leptin action, is severely damaged by elevated glutamate levels. Early administration of glutamate (GLU) to the neonatal rat disrupts the hypothalamic signalling cascade of leptin action. Conclusion: We are concerned that GLU‐containing parenteral nutrition may not only increase the risk of hypothalamic damage in neurosurgical patients with an impaired blood–brain barrier, and in patients with periventricular leukomalacia, but may also permanently damage the arcuate nucleus neurones in the very immature infant. This may result in later impairment of feeding regulation, obesity, hyperleptinaemia, and other symptoms that characterize the “thrifty phenotype” and the dysmetabolic syndrome. We strongly suggest reconsidering the recommended daily allowances of amino acids, particularly the use of GLU, in current paediatric parenteral nutrition.
Carotid artery intima‐media thickness and angiotensin‐converting enzyme gene polymorphism in the offspring of parents with premature stroke
Authors: Marčun Varda N. , Peterlin B. , Bradač S. Umek , Gregorič A. 
Published: August 2010

Abstract Aim: To determine some common cardiovascular risk factors, alterations in the measurements of intima‐media thickness (IMT) and the distribution of the angiotensin‐converting enzyme (ACE) polymorphism in children of parents with premature stroke, and to investigate the cardiovascular risk of these children and the potential need for some preventive measures.Methods: A family history of cardiovascular disease represents a cardiovascular risk factor in the offspring. This association has not yet been clearly determined for cerebrovascular accidents. New technology allows us to investigate the risk for cardiovascular disease at an early presymptomatic stage. We applied the measurement of IMT of carotid arteries by ultrasound imaging and the determination of the ACE insertion/deletion (I/D) polymorphism in blood to evaluate the predisposition for cerebrovascular disease in the offspring of patients with previous stroke. We investigated 58 subjects whose parents had experienced a cerebrovascular accident before the age of 45 y and compared them with a matched control group whose parents had not suffered a stroke. Results: The results of IMT at various sites of the carotid arteries and the genotype distribution of the ACE gene were not significantly different between the study group and the control group. In addition, no differences were found in the serum levels of lipid fractions or other biochemical variables. Conclusion: We conclude that determination of the carotid IMT and of the ACE I/D polymorphism do not permit discrimination of the cardiovascular risk in children of parents with or without premature stroke.