bluuebunny/crossref_metadata_2025 huggingface dataset:
Neonatal α1‐antitrypsin screening: parents' views and reactions 20 years after the identification of the deficiency state
Authors: Sveger T , Thelin T , McNeil TF
Published: August 2010

During 1972–74, 200 000 Swedish neonates were screened for α1‐antitrypsin deficiency (α1ATD). The parents of the 22–23‐y‐old α1ATD children were asked about their views on the screening study, information and follow‐up of their children as well as physical and psychosomatic problems, which were compared with a matched control (MC) group. Of the original 122 α1ATD and MC parents, 85 α1ATD and 89 MC parents decided to participate. The neonatal period was considered the best time for screening by 88% of the responding parents. The care of the α1ATD individuals was assessed as positive or very positive by 84% of the parents. About 70% of the parents thought that the awareness of their child's α1ATD had affected their lives, the most common comment being an increased consciousness of smoky and dusty environments. No significant difference between α1ATD and control parents was found concerning worry about the child's health and future. When asked about symptoms related to their mental health, no difference was found concerning headache, sleep problems, stomach troubles or tiredness. α1ATD mothers had statistically significantly more anxiety than control mothers (χ2p < 0.01, Wilcoxon p < 0.02). The knowledge derived from the present and previous parts of the α1AT screening study is important with regard to presymptomatic testing for adult‐onset disease in children.
Circulating thrombopoietin levels in neonates with infection
Authors: Colarizi P , Fiorucci P , Caradonna A , Ficuccilli F , Mancuso M , Papoff P
Published: August 2010

Thrombocytopenia is a commonly encountered hematologic complication in neonates with sepsis. Thrombopoietin (TPO) is the principal physiologic regulator of megakariocytopoiesis and platelet production. This study was carried out to determine whether variations in circulating TPO levels would occur in infected neonates and/or if they would correlate with platelet counts. In a prospective study of 36 sick neonates (gestational age 24–42 wk) admitted to a regional Neonatal Intensive Care Unit (NICU), blood was collected for TPO measurements and platelet counts on admission to the NICU, if infection was inferred, and at recovery before discharge. An additional group of 15 apparently healthy neonates was also studied (median postnatal age at the time of blood sampling for TPO assessment: 4 d, range 1–10) as control. TPO was measured on plasma samples using a commercially available enzyme‐immunosorbent assay (ELISA). On admission, the majority (21/36) of the sick neonates had non‐infectious diseases, 2 had early onset sepsis, and 13 had infection (defined as the presence of clinical signs of sepsis, abnormal leukocyte counts or C‐reactive protein values, and positive results on local cultures, but negative blood culture results). During the hospital stay, 5 neonates developed sepsis (positive blood culture) and 6 had infection (as previously defined) or necrotizing enterocolitis (NEC). The median TPO level (1704pg/ml, range 51–3912) was higher during sepsis (either early or late) than during infection (included NEC) (198pg/ml, range 21–2504), or non‐infectious disease (659 pg/ml, range 0–2533), while platelet counts (median value 37,000 cells/μl, range 15,000‐486,000) were lower than during either infection (included NEC) (median value 238,000 cells/μl, range 49,000‐655,000) or noninfectious disease (median value 110,000 cells/μl, range 45,000‐549,000). When infants had recovered from these illnesses, TPO concentrations markedly dropped (median value 59 pg/ml, range 0–825). These values were similar to those found in the control neonates (median TPO level 85 pg/ml, range 43–620). In infected neonates (sepsis plus infection), TPO levels inversely correlated with platelet counts (r= ‐0.634, p= 0.001) as did those of infants with non‐infectious disease (r= ‐0.574, p= 0.006), while there was no significant correlation between TPO levels and platelet counts in the samples obtained after recovery or in the control infants. We conclude that infected neonates have high circulating TPO levels in the face of low platelet counts. Whether larger TPO concentrations following exogenous administration of recombinant TPO would restore the number of circulating platelets warrants further investigation.
Quality evaluation of newborn screening programs
Authors: Loeber G , Webster D , Aznarez A
Published: August 2010

In the last four decades in many countries and regions all over the world newborn screening programs have been developed. Traditionally, most programs focus on phenylketonuria and congenital hypothyroidism. However, with development of new technologies, screening for a large variety of other disorders has become available. The decision‐making process on what to screen or not to screen for is usually driven by personal interest of the professionals involved, by local legislation and access to funding, resulting in large differences among countries. In general, quality evaluation is only applied to the pure laboratory analytical phase. Less attention is given to the pre‐analytical phase (e.g. timely sampling, maximum coverage) and the post‐analytical phase (follow‐up and treatment, evaluation of long‐term effects, cost‐effectiveness, etc.). In order to gain more insight into the current situation worldwide we developed a questionnaire which was sent to leading screening centers in more than 30 countries. As expected, the results show large differences in degree of organization, turnover times, completeness of coverage and follow‐up. There appears to be no relationship between screening procedures and the degree of legislation or the system of funding. In presenting the more detailed results we hope to be of service to program organizers.
Neonatal thyroid screening as a monitoring tool for the control of iodine deficiency
Authors: Delange F
Published: August 2010

In conditions of iodine deficiency, the frequency distribution of neonatal thyroid‐stimulating hormone (TSH) is shifted towards elevated values. Elevated serum TSH in the neonate indicates insufficient supply of thyroid hormones to the developing brain, and therefore constitutes the only indicator that allows prediction of brain damage, which is the main complication of iodine deficiency. This paper reviews studies on neonatal thyroid function in iodine deficiency and confirms the former statement by WHO/UNICEF/ICCIDD that the frequency of neonatal TSH above 5 mU/L blood is below 3% in conditions of normal iodine supply, that a frequency of 3‐19.9% indicates mild iodine deficiency and that frequencies of 20‐39.9% and above 40% indicate moderate to severe iodine deficiency, respectively. Neonatal thyroid screening appears as a particularly sensitive index in the monitoring of iodine supply at a population level.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
Authors: Wiley V , Carpenter K , Wilcken B
Published: August 2010

Since 1998, the NSW Newborn Screening Program has used electrospray tandem mass spectrometry (MS/MS) to analyse samples from all babies born in NSW and the ACT (approximately 95000 per year) for selected amino acids and acylcarnitines. The software rules editor initially interprets all results where ratio of analyte to internal standard is modified by input from the external standard curves per analyte. The numerical results are then downloaded to the NSW Newborn Screening database, which provides automatic, analyte specific follow‐up test cascade. We have analysed samples from 137 120 consecutive newborns received by the program, requested repeat samples from 122 babies, and found abnormal levels in 17 babies with phenylketonuria, 1 tetrahydrobiopterin deficiency, 3 hyperphenylalaninaemia, 1 maple syrup urine disease, 1 tyrosinaemia type II, 1 congenital lactic acidosis, 2 medium‐chain acyl CoA dehydrogenase deficiency, 1 short‐chain acyl CoA dehydrogenase deficiency, 1 β‐ketothiolase deficiency, 2 vitamin B12 deficient babies of vegan mothers and 1 glutaric aciduria type I. Using population data plus that obtained from retrospective samples with proven disorders we have established cutoff levels for each analyte tested. This coupled with the ability of the database to provide ratios of various analytes gives excellent screening specificity and sensitivity for the detection of at least 40 rare inborn errors of metabolism.
Technical aspects of neonatal screening using tandem mass spectrometry. Report from the 4th meeting of the International Society for Neonatal Screening
Authors: Simonsen H , Jensen UG
Published: August 2010

Quantitative analysis of amino acids (AA) and acylcarnitines using tandem mass spectrometry is an emerging technology used to screen neonatal dried blood spot samples for disorders in the metabolism of AA, organic acids and fatty acids. This paper provides a brief review of some of the technically oriented issues which emerged at the 4th meeting of the International Society for Neonatal Screening in Stockholm, 1999. The information covers sample preparation, instrumentation, data acquistion modes, internal standards, interpretation, confounding factors and practical screening experience.
The future of newborn screening belongs to obstetricians
Authors: Evans MI , Levy HL
Published: August 2010

Newborn screening has been a mainstay of genetic testing for several decades. Molecular biological techniques, pervasive in genetics and in medicine, are shifting the focus of such testing from enzymology to molecular diagnosis. Concomitant developments in the isolation of fetal cells from maternal blood enable molecular analysis to be performed not just postnatally, but in fact as early as the late first trimester. Potential advantages of first trimester prenatal diagnosis of those disorders currently performed postnatally include more reproductive options for couples, and, in selected cases, the fact that certain genetic disorders can be treated much earlier in development, thereby potentially ameliorating the sequelae of these disorders. Thus, the future of newborn screening will belong as much to the obstetrician as to the pediatrician, if not more so.
Potentials and pitfalls in neonatal screening for type 1 diabetes
Authors: Dahlquist G
Published: August 2010

Childhood‐onset diabetes is increasing all over the western world. Only 20‐30% of monozygotic twin pairs are concordant for the disease. So far, more than 20 different risk genes have been identified on different chromosomes. The dominating risk genes differ with different age at onset and also in different populations. Thus, the aetiology of the disease is complex, with interactions between different risk genes and environmental risk factors. Several pathogenetic models have been proposed, most of which include autoimmune destruction mechanisms. Screening for genetic markers for diseases with such complex aetiology encounters pitfalls due to the low predictive value of each single marker in the general population. To overcome such problems combinations of markers and decision‐tree analysis are necessary. The identification of several immune markers for the disease has provided potential for screening for secondary prevention. When increasing the number of markers to increase the predictive value, sensitivity will be lost. A Swedish population‐based study found the best combined positive predictive value in the general population to be 20%, whereas the sensitivity was only 34%. Type 1 diabetes still needs more precise risk markers in addition to a very safe prevention strategy before neonatal screening programmes may be instituted.
Plasma lipids and apolipoproteins in breastfed and formula‐fed Swedish infants
Authors: Karlsland Åkeson PM , Axelsson IEM , Räihä NCR
Published: August 2010

This study was carried out to compare plasma lipid pattern in breastfed and formula‐fed infants and the effects of exchanging breast milk for formula and of introducing weaning foods. Healthy infants, exclusively breastfed at least until 3 mo, were at this age randomly assigned to infant formulas with similar fat composition. Formula was gradually introduced when breastfeeding was discontinued. One group continued to breastfeed beyond 6 mo of age. All infants received the same weaning foods and were studied between 3 and 12 mo of age. Decreased plasma concentrations of total and low‐density lipoprotein cholesterol (TC, LDL‐C), apolipoprotein B (apo B) and A1 (p< 0.001), and of high‐density lipoprotein cholesterol (p< 0.05) were found when breast milk was exchanged for formula before 6 mo. At this age plasma TC, LDL‐C and apo B were lower in formula‐fed than in breastfed infants (p< 0.001). These plasma lipids then increased (p< 0.01) when the intake of formula decreased and that of weaning foods increased. However, plasma TC and/or LDL‐C remained lower at 12 mo in formula‐fed than in breastfed infants (p< 0.05). Our results indicate that the plasma lipid profile of infants is highly responsive to the dietary nutrient intake, as indicated by the decrease in plasma lipids and apolipoproteins when breast milk was exchanged for formula and by the increase in these concentrations when the intake of weaning foods gradually increased.
Effects of maternal dietary avoidance during lactation on allergy in children at 10 years of age
Authors: Hattevig G , Sigurs N , Kjellman B
Published: August 2010

This study investigated the long‐term effects of maternal dietary avoidance during lactation on the occurrence of atopic symptoms, development of immunoglobulin E (IgE) antibodies to food and inhaled allergens and occurrence of positive skin‐prick tests (SPT) in 65 children with a family history of atopy whose mothers adhered to a diet devoid of eggs, cow's milk and fish during the first 3 months of lactation (D group) and in a matched group of 50 children with mothers not practising such a diet (ND group). The diets of the D and ND children were similar. All children attended 7 follow‐ups from the age of 3 months to the age of 10 y. After the first follow‐up there was a 100% retention of participants. The results of the seventh follow‐up at 10 y are presented. Total IgE values and IgE antibodies to seven food and seven inhaled allergens were determined by the Phadebas IgE CAP® and the Phadebas RAST®, respectively. SPT were conducted for five food and seven inhaled allergens. High rates of atopic symptoms occurred in both groups, but there were no differences between the groups. Sensitization to the three foods avoided by the mothers during lactation was similar, but the overall test reactivity to foods was lower in the D group. Sensitization to inhaled allergens was similar in the two groups. During the 10 y of follow‐up, there was no difference between the groups in the occurrence of indoor furred animals, tobacco smoking, changes in heredity for atopy or development of total IgE, but a higher rate of maternal sensitization was found in the ND group, as judged by a screening test for IgE antibodies to inhalants (Phadiatop®). The results do not support general recommendations to implement prophylactic maternal dietary avoidance during lactation in allergy‐prone families.
Systematic review of N‐acetylcysteine in cystic fibrosis
Authors: Duijvestijn YCM , Brand PLP
Published: August 2010

A systematic review was carried out to evaluate whether the use of N‐acetylcysteine to improve lung function in patients with cystic fibrosis is supported by published evidence. Medline and the Cochrane Library were searched and the reference lists of all retrieved papers and of relevant chapters of three major textbooks were scanned. Data on lung function (forced expiratory volume in one second (FEV1)) were extracted from controlled clinical trials and pooled as weighted mean differences for analysis. Twenty‐three studies, mostly uncontrolled clinical observations, were retrieved. Only three randomized controlled clinical trials on nebulized N‐acetylcysteine in cystic fibrosis were found, not showing any beneficial effect on lung function. Six randomized controlled clinical trials on oral N‐acetylcysteine in cystic fibrosis were found, with a total number of 181 patients. There was a tendency towards a beneficial effect on lung function of oral N‐acetylcysteine therapy on FEV1 but it was small (2.3%, 95% CI from (−0.3 to 4.9% of predicted) and of doubtful clinical relevance. In all studies, follow‐up was 3 months or shorter. In conclusion, at present there is no evidence supporting the use of N‐acetylcysteine in cystic fibrosis, although a beneficial effect with long‐term use of N‐acetylcysteine in cystic fibrosis cannot be excluded.
A community‐based health intervention programme in pastoral and agricultural Pokot communities in Western Kenya
Authors: Ettyang G
Published: August 2010

Multiple micronutrient deficiencies in the perinatal phase are associated with poor child growth and functional impairment. For the pastoral child there is additional risk due to lifestyle and isolation from healthcare. Successful improvement in the child‐rearing practices and maternal vitamin A and iron status requires community‐based interventions that are sustainable. It is therefore recommended that for pastoral communities participatory techniques that identify and mobilize community resources should be used in the implementation of intervention programes.
Breastfeeding and infant‐mother interaction
Authors: Zetterström R
Published: August 2010

The prevalence of breastfeeding varies very much throughout the world. In some countries, such as in Scandinavia, it is extremely high, whereas it is rather low in many industrialized countries such as northern Italy. In urban areas of many developing countries the prevalence is extremely low, although it may be high in rural areas. For instance, in rural Guinea‐Bissau in West Africa it is reported to be 100% at 3 mo of age, and this high prevalence may be explained by the fact that infants who have not been breastfed die before this age. In Sweden the prevalence at 2 mo of age was around 95% in 1945 (including infants fed by milk‐mothers) but then gradually dropped until 1972, when it was as low as 20%. However, during the following 10‐y period the prevalence gradually increased to around 80%. The main reasons for the decline most probably were that infant formulae, then considered to be safe, became available, that an increasing number of women started to work outside their homes, making formula feeding part of the feminist movement, and finally that no real attempts were made to promote breastfeeding in the maternity wards and well‐baby clinics. The reverse trend started in 1972, when the attitude towards breastfeeding changed completely. Well‐educated mothers became aware of the new discoveries of the importance of breastfeeding from immunological and nutritional points of view, and organized campaigns. Within a few years, the Swedish parliament passed a law which guaranteed all mothers paid leave from their work (80% of their salary) for 9 mo after childbirth, which has now been increased to 12 mo. The WHO/UNICEF code from 1980, which regulates the marketing of infant formula, has also probably played an important role. After a plateau for the prevalence of breastfeeding between 1982 and 1990, a further increase has taken place, particularly between 6 and 9 mo of age. Whereas the first phase in the increase of the prevalence of breastfeeding was, to a certain extent, the result of the concern of well‐educated mothers, the second phase (1990‐1998) may, at least partly, be explained by the fact that Swedish maternity wards then implemented the suggestion, launched by WHO/UNICEF, to create “baby‐friendly” maternity hospitals with the aim of enabling all women to practise exclusive breastfeeding immediately after birth. Methods to stimulate lactation and proper nutritional suckling behaviour of the newborn were then developed.
Relation between polyunsaturated fatty acids and growth
Authors: Xiang M , Zetterström R
Published: August 2010

Although it was discovered in the late 1920s that polyunsaturated fatty acids (PUFA) are essential for proper growth and development in animals, their nutritional importance in humans has not attained general interest until the 1990s, when the role for growth and development has been extensively studied in both humans and animals. It is now known that PUFA regulate various developmental and physiological processes, and that they are of essential importance for early human growth and development. Thus, linoleic acid is the precursor of arachidonic acid, from which hormone‐like compounds, such as prostaglandins and leukotrienes, are formed, whereas a‐linolenic acid is the precursor of docosahexaenoic acid, which is an essential compound in cell membranes and occurs in particularly high concentration in the photoreceptors. In this paper the role of PUFA for human growth will be reviewed.
Oligosaccharides in human milk during different phases of lactation
Authors: Coppa GV , Pierani P , Zampini L , Carloni I , Carlucci A , Gabrielli O
Published: August 2010

Twenty‐one oligosaccharides of human milk were quantified by high‐performance anion‐exchange chromatography. Milk samples were collected from 18 mothers during the first 3 mo of lactation. The data show that the highest amount of all oligosaccharides is present at day 4 postpartum (20 g l−1) and then decreases by about 20% at day 30 of lactation. The protective role played by these substances against different infectious agents, in different organs and systems of the breastfed baby, is emphasized.
Nutritional effects and management of diarrhoea in infancy
Authors: Gracey M
Published: August 2010

The interactions between diarrhoeal disease and nutritional status are complex and synergistic. These are serious issues globally because they affect hundreds of millions of young children and annually cause >3 million deaths in children aged under 5y. Despite intensive field‐based and laboratory studies over three decades, many questions remain unanswered about the causes, pathophysiology and best approaches to management and prevention of this “diarrhoea‐malnutrition” syndrome. Oral rehydration therapy (ORT) has been a major advance and has saved many lives from acute diarrhoea. However, persistent diarrhoea is now a major problem and is very significant because of its strong negative impacts on nutritional status and because persistent diarrhoea and dysentery are now major causes of infant and young child deaths. ORT provides clear and practical methods for replacement of fluid and electrolyte losses during diarrhoea. Rehydration salts can be made available as (i) a simple, easy‐to‐use package, complete with user instructions; (ii) cereal‐based formulae based on widely available ingredients that can be prepared domestically or commercially; and (iii) home‐made mixtures of sugar and salt which should be simple to prepare but are risky because of inadequate understanding about their preparation at home and the chance of mixing the ingredients inaccurately and giving them wrongly. Continuation and encouragement of breastfeeding is an important strategy to prevent and control diarrhoea and as part of its management. Early refeeding during diarrhoea is another important principle to help to reduce its duration, severity and its nutritional impacts. Supplementation with specific dietary ingredients, such as vitamin A, zinc and folate, is rather contentious and drug therapy is of little value unless specifically indicated. Some patients may require enteral nutrition or parenteral nutrition but these require specialized equipment and skills that are usually beyond the reach of developing countries and infants and children who live in remote areas.
Childhood cancer–mainly curable so where next?
Authors: Craft AW
Published: August 2010

More than 70% of childhood cancer is now curable with best modern therapy. The treatment is expensive but in terms of cost per life year saved, USD 1750, compares very favourably with other major health interventions. The rate of improvement in survival is slowing down. New, “designer”, treatments are needed and, better still, prevention. The causes of childhood cancer are beginning to emerge. The origin for many is probably in utero and may be initiated by dietary and other environmental exposures perhaps in susceptible individuals. However, one of the great challenges for the future must be to extend the benefits of modern treatment to the 80% of the world's children who currently have little or no access to it in economically disadvantaged and emerging nations. The International Paediatric Oncology Society (SIOP) is leading the way in bringing hope for children with cancer worldwide. In India, with the support of the WHO, there is a “train the trainers” programme. In Africa, pilot studies of cost‐effective treatments for Burkitt's lymphoma are producing gratifying results in Malawi and there are several examples of twinning programmes between major centres in developed and less well‐developed countries.

Conclusions: The future for children with cancer is bright. Most are curable and prevention may be just over the horizon.
Cost analysis of the treatment of acute childhood lymphocytic leukaemia according to Nordic protocols
Authors: Rahiala J , Riikonen P , Kekäläinen L , Perkkiö M
Published: August 2010

Some attempts have been made to reduce the costs incurred in the therapy of leukaemia, but no studies are available regarding costs of the entire treatment in children with acute lymphocytic leukaemia (ALL). We analysed all the direct costs of treatment of 11 children with ALL diagnosed and treated in Kuopio University Hospital. The follow‐up continued from diagnosis until the end of treatment for each patient. Patient treatment on the ward lasted for 84‐210 d and in the outpatient clinic for 24‐66 d, depending on the risk group. From 11‐54 of the inpatient days were required for the treatment of infections. Total mean cost of the entire treatment was US $103 250 (US $55 196‐166 039) per patient, 53% of which were basic hospital costs and 47% patient‐specific costs. Laboratory tests and radiology accounted for 18% of all direct costs and cytostatic drugs for 13%, but blood products accounted for only 4% of the total. Infections were the most important extra cause of costs, accounting for 18% of the mean total costs per patient.

The complete treatment of a child with ALL came to a total of US $103 250. However, since 80% of children with ALL are long‐term survivors, the cost must be regarded as a good investment.
Exclusively breastfed, low birthweight term infants do not need supplemental water
Authors: Cohen RJ , Brown KH , Rivera LL , Dewey KG
Published: August 2010

Breast milk intake, urine volume and urine‐specific gravity (USG) of exclusively breastfed, low birthweight (LBW) term male infants in Honduras were measured during 8‐h periods at 2 (n= 59) and 8 (n = 68) wk of age. Ambient temperature was 22–36°C and relative humidity was 37–86%. Maximum USG ranged from 1.001 to 1.012, all within normal limits.

Conclusions: We conclude that supplemental water is not required for exclusively breastfed, LBW term infants, even in hot conditions.
Neonatal Escherichia coli infections: concerns regarding resistance to current therapy
Authors: Friedman S , Shah V , Ohlsson A , Matlow AG
Published: August 2010

Currently recommended antibiotic treatment of suspected neonatal sepsis is ampicillin and an aminoglycoside. Recently, we observed increasing ampicillin and gentamicin resistance in strains of Escherichia coli isolated from neonates at our institution. We therefore reviewed clinical and laboratory records of all neonates with systemic infection, hospitalized from 1994 through 1998, from whom E. coli was isolated from blood and/or cerebrospinal fluid. The influence of perinatal variables (e.g. rupture of foetal membranes > 24 h, group B Streptococcus (GBS) colonization, urinary tract infection during pregnancy and the use of antepartum and/or intrapartum antibiotics), and neonatal variables (e.g. gestational age, age at onset of sepsis (early: 72h, late: >72h), number of E. coli septic recurrences, and associated underlying medical and/or surgical conditions) on antimicrobial susceptibilities of invasive E. coli isolates was studied. Twenty‐three neonates with invasive E. coli infection were identified; most [19 (83%)] presented as late‐onset sepsis (LOS). Ampicillin‐resistant E. coli were isolated in 75% and 53% of neonates in the early‐ and late‐onset groups, respectively. Gentamicin resistance was found in 50% of early‐onset sepsis (EOS) isolates compared with 16% in the late‐onset group. Isolates from two neonates with EOS were resistant to both ampicillin and gentamicin. One neonate with EOS and three with LOS had recurrent E. coli sepsis; all isolates were ampicillin‐resistant and one was gentamicin‐resistant. All these neonates were initially treated with ampicillin and gentamicin. Both groups had associated underlying medical and/or surgical conditions (50% early‐onset, 47% late‐onset). Maternal GBS colonization occurred in 2 (50%) versus 3 (16%) of EOS and LOS cases, respectively. All GBS colonized women received intrapartum ampicillin prior to delivery.

Conclusions: Ampicillin and gentamicin resistance is emerging in neonatal E. coli isolates from invasive infection. Current empiric management of neonatal sepsis requires re‐evaluation given changing antimicrobial susceptibilities.
Umbilical artery catheter blood sampling decreases cerebral blood volume and oxygenation in very low birthweight infants
Authors: Roll C , Hüning B , Käunicke M , Krug J , Horsch S
Published: August 2010

The aim of this study was to assess whether blood sampling from umbilical artery catheters reduces cerebral blood volume and cerebral oxygenation in very low birthweight infants. A total of 20 infants, median birthweight 890 g (530‐1500 g), median gestation age 26 +4 wk (range: 22 +5 to 30 +6 wk) were studied from 10min before until 10min after routine blood sampling from umbilical artery catheters placed in the high position. Using near infrared spectroscopy, changes in concentrations of cerebral oxygenated and deoxygenated haemoglobin were measured, and changes in cerebral blood volume and cerebral oxygenation index were calculated. Heart rate, oxygen saturation, transcutaneous PO2 and PCO2 were registered continuously. Mean arterial blood pressure was measured before and after sampling. Oxygenated haemoglobin decreased significantly from baseline during blood sampling, whereas deoxygenated haemoglobin did not change significantly. This resulted in a decrease in cerebral blood volume and cerebral oxygenation index. Heart rate increased slightly, but significantly, from baseline. Oxygen saturation, blood pressure, transcutaneous PO2 and PCO2 did not change significantly.

Conclusion: Blood sampling from umbilical artery catheters induces a significant decrease in cerebral blood volume and cerebral oxygenation.
Plasma immunoreactive endothelin levels in children with cystic fibrosis
Authors: Siahanidou T , Nikolaidou P , Doudounakis S , Georgouli E , Kanavakis M , Papadimitriou A , Karpathios Th
Published: August 2010

Plasma immunoreactive endothelin levels were determined in 31 children and adolescents with cystic fibrosis and it was examined whether these levels correlated with the severity of the disease. The study comprised 16 cystic fibrosis patients (mean (SD) age 13.0 (4.9) y) with impaired lung function (Group A), 15 cystic fibrosis patients (11.2 (5.5) y) with unimpaired lung function (Group B) and 28 healthy controls (10.6 (4.3) y) (Group C). The selection and classification of patients into groups was based on criteria including the grade of finger‐clubbing, the Brasfield chest radiograph score and spirometric and arterial blood gas values. In all subjects, plasma immunoreactive endothelin, atrial natriuretic peptide, renin, serum aldosterone levels and serum and urine electrolytes were measured.

Conclusions: Plasma endothelin levels were significantly higher in Group A (range 2.5‐8.4 pg/ml, median 3.2 pg/ml) than those in Group B (1.3‐3.8 pg/ml, median 2.0 pg/ml,p<0.001) and Group C (1.5‐3.5 pg/ml, median 2.5 pg/ml,p<0.001), whereas they did not differ between groups B and C. They correlated positively with the severity of finger‐clubbing, heart rate, arterial blood PCO2, plasma atrial natriuretic peptide levels and serum aldosterone levels and negatively with the arterial blood PO2, forced vital capacity (FVC), forced expiratory volume in 1 sec (FEV1) and the Brasfield chest radiograph score. In multivariate regression analysis PO2was the only independent factor found to significantly affect plasma endothelin levels. In conclusion, plasma immunoreactive endothelin levels are increased in cystic fibrosis patients with impaired pulmonary function and are related to the severity of the disease.
Gastric emptying of solids is delayed in celiac disease and normalizes after gluten withdrawal
Authors: Perri F , Pastore M , Zicolella A , Annese V , Quitadamo M , Andriulli A
Published: August 2010

Several gastrointestinal motor abnormalities have been detected in patients with celiac disease, but it is unclear whether they are able to influence the gastric emptying rate. The aim of this work was to evaluate the gastric emptying rate of solids in children with celiac disease before and after a gluten‐free diet. Nine children with celiac disease and nine healthy controls (age range 4‐16 y) underwent a 13C‐octanoic acid breath test to measure gastric emptying. Half emptying time (t1/2) and lag phase (tlag) were calculated. After 6 mo of a gluten‐free diet, all celiac children underwent a repeat 13C‐octanoic acid breath test. The gastric motility parameters, t1/2 and tlag, were significantly longer in patients than in controls. No significant correlation between abnormal gastric emptying and specific symptom patterns or severity of histological damage was found. On a gluten‐free diet, the gastric emptying rate normalized in all celiac patients. This finding supports the hypothesis that gluten‐driven mucosal inflammation might determine motor abnormalities by affecting smooth muscle contractility or impairing the release of neurotransmitters. Alternatively, nutrient malabsorption might determine significant changes in intraluminal milieu, which, in turn, may affect intestinal motor functions.

Conclusion: patients affected by celiac disease have a markedly delayed gastric emptying of solids, which returns to normal after gluten withdrawal.
Diagnostic test meal in childhood enteropathy using simultaneous carbohydrate and fat loading
Authors: Ejderhamn J , Nemeth A , Strandvik B
Published: August 2010

The diagnostic value of a combined test meal consisting of glucose, D‐xylose and dairy cream was studied in 230 infants and children with gastrointestinal symptoms. The simultaneous absorption of the three compounds was rated according to their serum concentrations at different times 0‐240 min after intake and compared to the histological changes of jejunal biopsy specimens.

Conclusion: The results showed that the simultaneous loading test had higher specificity and sensitivity than D‐xylose alone in patients with subtotal villous atrophy.
Assessment of eating behaviours and attitudes to eating, dieting and body image in pre‐adolescent Swedish girls: a one‐year follow‐up
Authors: Halvarsson K , Lunner K , Sjöden P‐O
Published: August 2010

A 1‐y follow‐up of fifty 8‐y‐old Swedish girls was performed to assess changes in eating attitudes and dieting behaviour. Individual structured interviews using the Children's Eating Attitudes Test (ChEAT) and Body Image silhouettes were used. The question, “Have you ever tried to lose weight?” was employed to discriminate dieters from non‐dieters. Dieting behaviours according to the ChEAT increased over the follow‐up period.

Conclusion: Discrimination between dieters and non‐dieters on the basis of a single question is highly unstable. A classification based on repeated assessment appears to be more promising.
Investigation of the transport of trace elements across barriers in humans: studies of placental and mammary transfer
Authors: Rossipal E , Krachler M , Li F , Micetic‐Turk D
Published: August 2010

The barrier function of the human mammary gland for selected trace elements was evaluated by analysing 27 maternal sera and corresponding colostrum samples for 14 trace elements. To investigate the impact of the human placenta at the end of gestation on the transfer of 17 trace elements from the mother to the baby, 29 maternal and corresponding umbilical cord sera (UCS) were studied. The uptake of trace elements from the UCS by the fetus was investigated in nine pairs of arterial and venous UCS. In colostrum, the concentration of Cu was 19%, of Se 47%, of Co 80%, of Mg 146%, of Ca 222%, of Sn 228%, of Mn 275%, of Mo 814%, and of Zn 1470% of that of the maternal sera. For Cd and Pb the corresponding values were 200% and 325%, respectively. These data show that the mammary gland can exert an activating as well as an inhibiting effect on the trace element transfer. A concentration gradient mode of action for the transfer of Li, Mo and Sr could be found. In UCS the concentration of Cu was 20%, of Se 55%, of Co 60%, of Sn 85%, of Mo 100%, of Mg 105%, of Ca 120%, of Zn 148%, and of Mn 150% of that of the maternal sera. The corresponding values for Cd were 66% and for Pb 50%.

Conclusions: These findings indicate that the placenta can exhibit an activation or inhibition on transfer as well as a gradient mode of action as for Mo, Cs, Li and Sr. The uptake of essential trace elements from venous UCS by the unborn ranged from 2.5% for Ca to 16.7% for Mo. Both the placenta and the mammary gland can exert an activating, inhibiting or gradient mode of action for selected trace elements, the biological impact of which needs to be further elucidated.
Cervical lymph node infections with non‐tuberculous mycobacteria in preschool children: interferon gamma deficiency as a possible cause of clinical infection
Authors: Nylén O , Berg‐Kelly K , Andersson B
Published: August 2010

Epidemiological studies have demonstrated a prevalence of positive PPD reactions to non‐tuberculous mycobacteria (NTM) in 9% of 4–5‐y‐old children in the Göteborg area. Very few children of this age develop suppurative infections in lymph nodes that require surgical procedures. The hypothesis was that these children might have T cell deficiencies with abnormalities of macrophage functions, particularly with type 1 cytokines. Twenty‐four children who needed operations were investigated immunologically and compared to 10 children of the same age operated on for non‐infectious reasons. The methods used were flow cytometry analysis of lymphocytes in blood, blood lymphocyte stimulation assays and interferon gamma analyses. The patients had significantly lower levels of interferon gamma than the controls after stimulation with Candida antigens or Con A. The numbers of T and B lymphocytes were higher in patients than in controls.

Conclusion: Children with necrotic lymph node infections in the cervical region due to NTM had lower interferon gamma production after stimulation than healthy age‐matched controls.
Comparison of self‐administration and face‐to‐face interview for surveys of low back pain in adolescents
Authors: Staes F , Stappaerts K , Vertommen H , Nuyens G , Coppieters M , Everaert D
Published: August 2010

The aim of this study was to compare self‐administration with face‐to‐face interview in the investigation of low back pain in adolescents. Fifty‐seven adolescents with low back pain (mean age 17.3 y; range 16–18) first completed a questionnaire and were then invited to an interview. Analysis included item completion, percentages of agreement and weighted kappa. Item completion rates were high and comparable between self‐administration and interview. Information between both methods was analogous for severity and localization of problems, sleep behaviour, medical consultation and sports/leisure activities. Onset, progression, duration of low back pain and some items on the influence of movement/positions presented less comparable data.

Conclusion: Even when two different methods of data acquisition are used, results suggest that the method used does not change the interpretation of results in the case of most items.
Downregulatory cytokines in tracheobronchial aspirate fluid from infants with chronic lung disease of prematurity
Authors: Jonsson B , Li Y‐H , Noack G , Brauner A , Tullus K
Published: August 2010

Chronic lung disease of prematurity (CLD) is associated with an inflammatory response in the preterm lung and increased levels of proinflammatory cytokines in tracheobronchial aspirate fluid (TAF). We investigated TAF levels of transforming growth factor‐ß1(TGF‐ß1), interleukin‐10 (IL‐10), interleukin‐4 (IL‐4) and interleukin‐12 (IL‐12) cytokines possibly important in downregulating the proinflammatory response and/or inducing lung fibrosis in infants with developing and established CLD. Infants with CLD (n = 24) were compared with preterm infants with RDS that resolved (n = 22) and postoperative infants without lung disease (n= 23). TAF levels of TGF‐ß1, IL‐10, IL‐4 and IL‐12 were studied by quantitative enzyme immunoassay. Levels of TGF‐ß1 were significantly higher during the first week of life in infants who developed CLD, remained high at 2 wk and past 4 wk of age. TAF levels of TGF‐ß1 did not decrease significantly in six infants with CLD after treatment with steroids. TAF IL‐10 was detected in 12/46 (26%) preterm infants. Infants with CLD or RDS were more likely to have measurable TAF levels of IL‐10, compared with the postoperative infants without lung disease (p < 0.02 and 0.04, respectively). TAF levels of IL‐4 or IL‐12 were below the detection limits in all samples.

Conclusions: We have demonstrated a sustained increase of TGF‐ß1 levels in TAF from preterm infants who develop CLD, suggesting an important role for TGF‐ß1 in the fibrotic response in the CLD lung. The elevated TGF‐/J1 levels, combined with an absent or irregular secretion of IL‐4, IL‐10 and IL‐12, can have importance for the increased tendency for the development of CLD in preterm infants.
Severe adenovirus bronchiolitis in children
Authors: Pichler MN , Reichenbach J , Schmidt H , Herrmann G , Zielen S
Published: August 2010

ABSTRACT. Severe adenoviral infections such as the necrotizing adenovirus bronchiolitis occur sporadically in infants. Ascertaining the etiologic role of adenovirus in cases of lung disease can pose a diagnostic problem. We present two cases of severe bronchiolitis in previously healthy children in which adenovirus could be shown to be the causing agent. Both children received immunosuppressive therapy with steroids and Cyclosporin for 3 mo and a course of intravenous Ribavirin for 10 d. The results were conflicting: despite therapy Patient 1 died due to respiratory failure, Patient 2 improved notably. Conclusions: Adenovirus can cause severe bronchiolitis in previously healthy children. Diagnosis may be difficult to achieve. The role of antiviral therapy in the treatment of adenoviral infections remains to be cleared. □Adenovirus, bronchiolitis
Visual event‐related potentials in children with phenylketonuria
Authors: Henderson RM , McCulloch DL , Herbert AM , Robinson PH , Taylor MJ
Published: August 2010

Visual event‐related potentials (ERPs) were examined in 16 children (aged 5–14 y) with phenylketonuria (PKU) and 16 age‐ and sex‐matched controls. Lifetime median measures of phenylalanine (Phe) were 230‐460 μmol/l. The most recent Phe levels were 56–624 μmol/l. ERPs were recorded whilst the children performed a discrimination task. All stimuli were square wave gratings degree, which appeared for 33 ms. A response to an infrequent grating that differed in orientation or spatial frequency was required. The older children with PKU had a delay in the first peak (P1) of the ERP, and age‐related changes in the amplitude of P1. There was attenuation of the second peak across age groups in PKU. There was no evidence of reduced response accuracy or longer reaction times in children with PKU. Latencies of the cognitive P3 were not delayed in PKU. The delayed early peaks are consistent with previous studies that have shown delayed visual evoked potentials in PKU. The lack of differences in reaction time and P3 may be due to relatively good Phe control in children with PKU, or to the simplicity of the task. Suggestions are made for future ERP studies of PKU.
Magnetocardiographic determination of the developmental changes in PQ, QRS and QT intervals in the foetus
Authors: Horigome H , Takahashi MI , Asaka M , Shigemitsu S , Kandori A , Tsukada K
Published: August 2010

In order to determine developmental changes in atrioventricular (PQ), ventricular depolarizing (QRS) and QT intervals of the foetal heart, we recorded foetal magnetocardiographic waveforms using a superconducting quantum interference device system in a magnetically shielded room in 150 uncomplicated foetuses of gestational age>20 wk. Recording of the QRS waveform was successful in 128 (85%) of the subjects, based on unaveraged tracings. After signal averaging of the data from these 128 cases, P waves were recognized in 102 (68%) subjects and T waves in 64 (43%). The QRS interval, ranging from 32–74 ms, showed a positive linear correlation with the gestational age, which probably reflects an increase in the number and size of myocardial cells. The PQ interval showed low correlation with the gestational age, and was rather constant, with an average value of 100 ms. The QT interval ranged from 180–302 ms, and tended to be slightly shorter during early gestation. Although the success rate of measuring the PQ and QT intervals was unsatisfactory for this methodology to prevail in a clinical setting, these values provide the basis for in utero non‐invasive investigation of foetal cardiac activity by magnetocardiography.
Newborn infants' cry after heel‐prick: analysis with sound spectrogram
Authors: Runefors P , Arnbjörnsson E , Elander G , Michelsson K
Published: August 2010

The aim of the study was to test the hypothesis that a newborn infant's cry can be used in conjunction with an instrument to measure pain. Crying due to pain was analysed after a heel‐prick stimulus. In a prospective, descriptive study, 50 healthy newborn infants were subjected to a heel‐prick for phenylketonuria screening. Their cries of pain were recorded and analysed. Duration of the crying sound was analysed and, using a sound spectrogram, the fundamental frequency and the cry melody of the first five cry sounds were analysed. The analysis showed that the crying sound after the painful stimulus of the heel‐prick had a significantly higher fundamental frequency and lasted longer at the first than at the fifth cry. The first cry had a more varied crying melody than the fifth. There were large differences between individual cries from a single infant, as well as in the duration of each cry, total crying time, and fundamental frequencies between infants. While the first cry was more like a cry of pain, the fifth cry more resembled crying for reasons other than pain. The results suggest that newborn infants react to pain in a recognizable way. However, other stimuli may cause a similar reaction. Crying can therefore be used to measure pain in newborn infants only when the cause of crying is known.
Blueberry muffin rash as a presentation of alveolar cell rhabdomyosarcoma in a neonate
Authors: Godambe SV , Rawal J
Published: August 2010

Soft tissue sarcomas of childhood continue to present problems with pathologic diagnosis, staging and treatment. Rhabdomyosarcoma, the most common soft tissue sarcoma, represents 4–8% of all malignant solid tumours in children. We report a case of congenital alveolar rhabdomyosarcoma who presented with “blueberry muffin”‐like rash. A full‐term female infant was noted at birth to have multiple skin lesions resembling blueberry muffin rash and an abdominal mass in the left iliac fossa, which appeared to be fixed to the posterior abdominal wall. There was no enlargement of liver and spleen, but her para‐aortic lymph nodes were enlarged. Biopsy from the mass confirmed the diagnosis of alveolar cell rhabdomyosarcoma. Molecular investigation for the t (2:13) translocation was negative. The infant received chemotherapy but died within 1 mo of diagnosis.