bluuebunny/crossref_metadata_2025 huggingface dataset:
Normal spontaneous cortisol secretion in children after autologous bone marrow transplantation
Authors: Frisk Per , Gustafsson Jan , Arvidson Johan
Published: August 2010

Aim: To describe spontaneous cortisol secretion in children after autologous bone marrow transplantation (BMT) for acute leukaemia and lymphoma. Methods: Spontaneous cortisol secretion was analysed in 39 children before and after BMT. Thirteen patients were conditioned with chemotherapy only (group 1), and 26 patients also with total body irradiation (TBI). In the TBI group, 14 patients had received no additional irradiation (group 2), whereas 12 patients had received cranial irradiation (CRT) previously (group 3). Results: Before BMT, in comparison with group 1, mean morning cortisol was significantly lower in group 2 (252 vs 415 mmol/l, p=0.004), but not in group 3 (vs 312 mmol/l, p=0.12). There was no change in group 1 six months after BMT (to 379 nmol/l), whereas morning cortisol increased significantly in group 2 and group 3 (to 386 and 343 nmol/l, respectively; p<0.05). The change in mean morning cortisol correlated negatively with pretransplant morning cortisol (r=−0.63, p<0.001). Neither TBI nor CRT were associated with changes in morning cortisol.

Conclusion: Spontaneous cortisol secretion is maintained after BMT irrespective of whether cranial or total body irradiation has been given or not.
Cognitive and behavioural characteristics in blind children with bilateral optic nerve hypoplasia
Authors: Ek Ulla , Fernell Elisabeth , Jacobson Lena
Published: August 2010

Aim:To describe cognitive and behavioural characteristics in a group of blind children with bilateral optic nerve hypoplasia (ONH).Methods:Data from records, parents, teachers, and repeated developmental assessments of 13 blind children with ONH born in 1988–1998 were analysed. All children had neuroimaging and/or hormonal evidence of midline malformations. They were all blind and able to communicate with speech.Results:Severe mood swings and temper tantrums were common, especially during the first years of life. Later in life, sluggish tempo, low frustration tolerance and a narrow range of interests were common. Autism had been diagnosed in 6/13 children, autistic‐like condition (ALC) was found in another three. The behaviour of the remaining four children was not within the autism spectrum. Eight children had cognitive capacities within the normal or near‐normal range; five had mental retardation. Autism/ALC was found in all cognitive subgroups. All children exhibited fluent speech and, of these, 12 had started to talk at the expected age, but had clear deficiencies in communicative ability.

Conclusion:These children had a common pattern of behavioural characteristics including autism spectrum disorders independent of intellectual capacities.
A three‐year population‐based study of antibiotic treatments for children
Authors: Gagliotti Carlo , Morsillo Filomena , Resi Davide , Milandri Milena , Luisa Moro Maria
Published: August 2010

Aim: To describe the use of systemic antibiotics in the paediatric population of the Emilia‐Romagna region (Italy) during the period 2000–2002. Methods: Data were extracted from the drug prescription database of Emilia‐Romagna. Results: Treatment rates were within the range 1016–1151 treatments per 1000 children‐years, according to the observed year. Chephalosporins were the most prescribed antibiotic class.

Conclusion: The paediatric population of Emilia‐Romagna is heavily exposed to systemic antibiotics. Further studies are needed to find out determinants of antibiotic overuse.
Systemic lupus erythematosus (SLE) presenting with nephrotic syndrome and membranous glomerulopathy in a 10‐year‐old girl
Authors: Machado Vânia , Pontes Teresa , Brito Iva , Afonso Caldas
Published: August 2010

The authors report the case of a 10‐y‐old girl with clinical diagnosis of systemic lupus erythematosus (SLE), made at the age of 6 y, based upon arthritis, serositis, haematological disorder and positive antinuclear antibody. The first manifestation of disease—Raynaud's phenomenon—appeared at the age of 4 y. Seven months after the diagnosis, she developed nephrotic proteinuria with haematuria. Percutaneous renal biopsy showed membranous glomerulonephritis, the least common form of lupus nephritis.

Conclusion: Intravenous cyclophosphamide therapy associated with oral prednisolone proved effective in inducing complete remission of nephrotic syndrome.
The relationship between children's habitual activity level and psychological well‐being
Authors: Parfitt Gaynor , Eston Roger G
Published: August 2010

Aim: To explore the relationship between habitual physical activity and psychological well‐being in children. Methods: Seventy children (35 boys, 35 girls), age 10.4±0.4 y, wore hip pedometers over a period of 7 d. Well‐being was conceptualized as the presence of global self‐esteem and the absence of anxiety and depression and assessed with the use of three questionnaires. Results: Correlation analyses revealed that habitual physical activity had a strong association with global self‐esteem (r=0.66), depression (r=−0.60) and anxiety (r=−0.48). However, using partial correlations, the significant relationships were removed for anxiety and depression, but remained for self‐esteem (r=0.36). When groups were created based upon activity level, children achieving >12 000 steps/day had more positive psychological profiles than children achieving <9200 steps/day.

Conclusion: The results support the findings from previous studies that have explored the relationship between physical activity and well‐being, but represent the first to use a mechanical measure of physical activity over a 7‐d period to assess the relationships. The actual step counts associated with more positive psychological well‐being can be shown to be in line with the recommended guidelines that children accumulate a minimum of 60 min of moderate‐intensity activity per day.
Use of polyvinyl feeding tubes and iatrogenic pharyngo‐oesophageal perforation in very‐low‐birthweight infants
Authors: Filippi Luca , Pezzati Marco , Poggi Chiara
Published: August 2010

Background: Placement of a feeding tube may be associated with various complications, including iatrogenic pharyngo‐oesophageal perforation. Aim: To determine the incidence of pharyngo‐oesophageal perforation secondary to the use of polyvinyl feeding tubes in newborns weighing less than 1500 g, we conducted a retrospective study over a 3½‐y period. Methods: All the hospital files of the 371 very‐low‐birthweight newborns admitted were retrospectively reviewed. Results: Three iatrogenic pharyngo‐oesophageal perforations were observed, giving an incidence of 1∶124 preterm infants. This incidence reaches values of 1∶25 newborns weighing less than 750 g. Data from our cases included clinical presentation and outcome, radiological evaluation, and type of feeding tube. One infant died of sepsis, and the clinical course was compatible with mediastinitis. The other two infants were treated successfully with conservative non‐surgical management.

Conclusion: Pharyngo‐oesophageal perforation in our experience exclusively involved preterm infants weighing less than 750 g after traumatic placement of a polyvinyl feeding tube. The use of a silastic feeding tube with a really soft end instead of polyvinyl catheters could probably avoid iatrogenic oesophageal perforation.
Adolescent detainees in an adult prison in Geneva
Authors: Haller Dagmar M , Meynard Anne
Published: August 2010

Despite the Convention on the Rights of the Child, some adolescents are still detained in adult prisons in Europe. Little is known about their health status. This cross‐sectional study of 67 teenagers detained in an adult prison in Switzerland shows that morbidity in this group is high.

Conclusion: These results highlight the need for developmentally appropriate health services for teenagers in adult prisons. The long‐term implications of detaining adolescents in adult detention facilities also need to be discussed.
Fetal hydrops in GM1 gangliosidosis: A case report
Authors: Teresa Sinelli Maria , Motta Mario , Cattarelli Donatella , Luisa Cardone Maria , Chirico Gaetano
Published: August 2010

GM1 gangliosidosis is a rare disorder characterized by deficiency of the β‐galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM1 ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile and adult form. We report a case of GM1 gangliosidosis presenting with fetal hydrops at 24 wk of gestation. The parents were consanguineous; the baby, born at 35 wk of gestation, was dysmorphic and presented severe generalized oedema. The most common cause of fetal hydrops was excluded. A lysosomal storage disease was suspected, and GM1 gangliosidosis was diagnosed. The child developed severe growth and mental retardation and died when she was 21 mo old.

Conclusion: We suggest that the possible association between inborn errors of metabolism and antenatal ascites should be considered, in order to offer genetic counselling due to the high recurrence risk and the availability of early antenatal diagnosis.
Survival after surgery for congenital heart defects: Does reduced early mortality predict improved long‐term survival?
Authors: Eskedal Leif , Skjalg Hagemo Peter , Eskild Anne , Aamodt Geir , Seiler Kerry S , Thaulow Erik
Published: August 2010

Aim: The objectives of this study were 1) to compare early mortality (first 30 d after surgery) and long‐term survival between two cohorts of patients operated on for congenital cardiac defects, and 2) to evaluate the impact of possible changes in early mortality on long‐term survival. Methods: 945 patients with congenital cardiac defects, born in 1990–1999 and operated on in the same period were examined in a retrospective cohort study. The patients were divided into three groups: “univentricular cardiac defects”, “severe cardiac defects” and “less severe cardiac defects”. The study population was divided into two cohorts: group 1 included patients born and operated on in 1990–1994; group 2 included patients born and operated on in 1995–1999. The survival patterns in the two groups were compared. Results: For all patients, except those with univentricular cardiac defects, early mortality (30 d after surgery) was reduced. Among patients with severe cardiac defects, early mortality was reduced from 18.6% in group 1 to 2.9% in group 2. Among patients with less severe cardiac defects, early mortality was reduced from 6.2% to 1.9%. The improved outcome was maintained during the following 5 y. Overall relative risk of death during follow‐up was reduced to 0.31 (95% CI: 0.15–0.56) for patients with severe cardiac defects, and to 0.53 (95% CI: 0.31–0.93) for patients with less severe cardiac defects born and operated on in 1995–1999.

Conclusion: Early mortality has been substantially reduced in congenital heart defect patients, and corresponds with significantly improved long‐term survival.
Leisure activities in adolescents with headache
Authors: Oksanen A , Metsähonkala L , Anttila P , Aromaa M , Jäppilä E , Viander S , Salminen J , Helenius H , Sillanpää M.
Published: August 2010

Aim: To investigate the association between different types of headache and leisure activities in 13‐y‐old schoolchildren. Methods: A population‐based, cross‐sectional study was performed through face‐to‐face interviews with age‐matched cohorts with headache and asymptomatic controls. The present study comprised 59 children with migraine, 65 with episodic tension‐type headache (TTHA) and 59 headache‐free controls. In the interview, besides questions concerning headache, the children were asked open and structured questions about the type and amount of their leisure activities. Results: Children with migraine spent more time in sports activities than children with episodic tension‐type headache or children without headache (test for trend, p<0.01; migraine: OR 1.4, 95% CI 1.1–1.9; tension‐type headache: OR 0.9, 95% CI 0.7–1.1). The type of leisure activity was not significantly associated with headache type (p>0.05). Children with both migraine and episodic tension‐type headache used computers more often than children without headache (test for trend, p<0.05; migraine: OR 1.2, 95% CI 1.1–1.5; tension‐type headache: OR 1.3, 95% CI 1.1–1.5).

Conclusion: This study provides additional data on the activity status and headache complaints in adolescents. The results indicate that frequent computer use is associated with both tension‐type headache and migraine, and intensive overall sports activities are characteristic of adolescents with migraine.
Brunner's gland adenoma: A rare cause of vomiting
Authors: Urganci Nafiye , Arapoglu Müjde , AkyIldIz Basak , Calay Zerrin , Nuhoğlu Asiye
Published: August 2010

Upper gastrointestinal system adenoma is generally seen amongst elderly patients and quite rarely seen during the childhood. A 14‐y‐old female patient was referred to our hospital with complaints of vomiting and abdominal pain. She had been followed up for 6 y with the diagnosis of familial intermittent fever and chronic renal failure due to amyloidosis. Endoscopic examination of the upper gastrointestinal system revealed mild hyperaemia in the corpus and antrum, and a polyp of 0.5×0.5 cm with an ulcerated and pedunculated top in the bulbus. Brunner's gland adenoma was diagnosed by the histopathological examination of the lesion following polypectomy.

Conclusion: Brunner's gland adenoma is usually asymptomatic; however, it may reveal clinical findings such as obstruction, bleeding or intussusception, especially in uraemic patients. Thus, we would like to emphasize that, in patients with chronic renal failure and acute onset vomiting and abdominal pain, Brunner's gland adenoma should be considered in the differential diagnosis.
Infection and early atherosclerosis: Does the evidence support causation?
Authors: Liuba Petru , Pesonen Erkki
Published: August 2010

Although clinical manifestations of atherosclerotic coronary heart disease occur in adult life, the initial stages of its development commence in childhood. Therefore, elucidating the pathogenesis of early atherosclerosis and identifying the network of risk factors have become fundamental priorities for both cardiovascular healthcare providers and scientists. There is mounting evidence from both human studies and animal experiments that infectious pathogens could be implicated in atherosclerosis development. The vulnerability of the arterial wall to the adverse effects of infection is probably augmented when additional risk factors and/or certain proatherogenic genetic profiles are also present. The precise mechanisms whereby infection, alone or in synergy with conventional cardiovascular risk factors, could contribute to atherosclerosis are not fully understood.

Conclusion: Injury to the vascular endothelium, which could be elicited by infection through inflammatory, metabolic, autoimmune, and pathogen‐related mechanisms, might be a central link between infection and early atherosclerosis.
Management, asthma control and quality of life in Swedish adolescents with asthma
Authors: Hasselgren Mikael , Gustafsson D , Ställberg B , Lisspers K , Johansson G
Published: August 2010

Aim: In Sweden, paediatricians or general practitioners treat most adolescents with asthma. This study compares management, treatment goals and quality of life for adolescents aged 15–18 y in paediatric or primary care. Material and methods: A random sample of patients answered a disease‐specific and a quality‐of‐life (MiniAQLQ) questionnaire. Results: The 146 adolescents in paediatric care had more years with asthma, better continuity of annual surveillance, higher use of inhaled steroids and a stated better knowledge of their asthma than the 174 patients in primary care. No difference could be detected in asthma control or quality of life. Of all 320 adolescents, approximately 20% had woken at night due to asthma symptoms during the last week. About 15% had made unscheduled, urgent care visits and a third had used short‐acting beta‐agonist relievers more than twice a week. Quality‐of‐life scores were high and similar in both settings.

Conclusions: Swedish adolescents with asthma are managed and treated somewhat differently in paediatric and primary care but with equal and, for the most part, satisfying results. The difference between the two settings probably reflects both differences in severity of asthma and different treatment traditions. For all adolescents, better fulfilment of goals regarding symptoms and exacerbations would be desirable, whereas a good quality of life including normal physical activity seems to have been achieved.
Varicella zoster virus antibody titers after intravenous zoster immune globulin in neonates, and the safety of this preparation
Authors: Murguía‐de‐Sierra Teresa , Villa‐Guillén Mónica , Villanueva‐García Dina , Molina Antide , Juárez‐Chávez Alejandra , Leistikow Elizabeth A
Published: August 2010

Aims: 1) To assess the safety of intravenous varicella zoster virus hyperimmune globulin G (IV‐VZVIG) in neonates; 2) measure varicella zoster virus‐specific IgG antibody (VZVIG) changes in newborn IV‐VZVIG recipients. Methods: Eighteen neonatal intensive care unit (NICU) neonates with varicella exposure were given 1 ml/kg (43 International Units (IU)/kg) Varitect® IV‐VZVIG. Serum VZVIG titers were assayed in neonatal recipients 0, 1, 7, 14, 21, 28, and 35 d after IV‐VZVIG. Also, serum samples for VZV‐IgM antibody determinations were obtained at 4 wk post‐infusion. Results: No varicella developed in the 18 infants. Infusion of 1 ml/kg (43 IU/kg) IV‐VZVIG was generally safe. The IV‐VZVIG dose resulted in seroconversion of a non‐immune newborn. Five infants had low basal VZVIG titers, and two of them had a 0.6‐log10 increase at 24 h post‐infusion. Neonatal VZVIG titers (mean±SEM in log10) before IV‐VZVIG and after by 1, 7, 14, 21, 28, and 35 d were 2.22±0.15, 2.17±0.17, 2.02±0.12, 0.87±0.2, 1.09±0.19, 2.33±0.07, and 2.16±0.1, respectively.

Conclusions: One ml/kg (43 IU/kg) IV‐VZVIG was generally safe. Our neonatal mean VZV‐immune status did not significantly increase after the 1 ml/kg (43 IU/kg) IV‐VZVIG dose, although no varicella developed and it caused a VZV‐specific seroconversion.
Twenty‐year dynamics in adiposity and blood lipids of Greek children: Regional differences in Crete persist
Authors: Manios Yannis , Magkos Faidon , Christakis George , Kafatos Anthony G
Published: August 2010

Aim: To examine whether secular trends in adiposity and blood lipid profile of Greek children manifested equally among individuals from urban and rural provinces. Methods: Cretan boys (aged 12.1±2.3 y) from urban and rural areas of Crete were recruited in 1982 (n=277 and 251, respectively) and 2002 (n=440 and 180, respectively). Height, weight, and body mass index (BMI), as well as plasma lipid concentrations were measured and compared across cohorts (1982 vs 2002) and regions (urban vs rural) by two‐way analysis of covariance (adjusted for age) with interaction. Results: Temporal changes in height (positive), weight (positive), and BMI (positive) manifested equally in children from urban and rural provinces, as no interaction was detected. Similar results were obtained for triacylglycerol (positive), low‐density lipoprotein cholesterol (LDL‐C, positive) and high‐density lipoprotein cholesterol (negative) concentrations. A significant interaction was observed only for total cholesterol (TC), which increased from 1982 among rural (by 6.2%, p<0.05) but not among urban boys. In all other instances, regional differences in 1982 persisted in 2002. More specifically, children from urban provinces were taller, heavier, and had higher BMI values than those from rural areas, while they also had higher LDL‐C concentrations, whether nowadays or 20 y ago. Regional differences in TC in 1982 were not apparent in 2002.

Conclusion: These findings suggest that changes in anthropometric characteristics and plasma lipids during the past 20 y have occurred largely in parallel among urban and rural Cretan children, and they emphasize the importance of developing a common national strategy for the prevention and treatment of childhood obesity in Greece.
The effect of maternal, umbilical cord and placental malaria parasitaemia on the birthweight of newborns from South‐western Cameroon
Authors: Eric Akum Achidi , Kuoh Anchang J , Minang Jacob T , Achimbom Boyo M , Ahmadou Mokube J , Troye‐Blomberg Marita
Published: August 2010

Aim: The impact of maternal, umbilical cord and placental malaria parasitaemia on the incidence of low birthweight was investigated in pregnant women reporting for delivery at the Mutengene Maternity Centre, Fako Division, South West Province, Cameroon. Methods: The malaria parasitaemia status of 770 umbilical cords, parturient women and placental impression smears were determined by light microscopy using blood samples collected between June 1999 and September 2001. The birthweights (BW) of the newborns were recorded soon after delivery. Results: The results show that malaria parasites were present in the blood samples of 57 out of 730 (7.8%), 233/711 (32.8%) and 248/735 (33.7%) cord, maternal and placental biopsies respectively. Low birthweight (LBW) was recorded in 72 (9.6%) newborns, and the incidence was higher in primiparae. Newborns of mothers who had malaria parasites in their peripheral blood (12.4%) had a higher incidence (p=0.014) of LBW when compared with malaria parasite‐free mothers (6.8%). Similarly, neonates born from malaria‐positive placentas (13.5%) had a significantly higher incidence of LBW (p=0.006) than those from parasite‐negative placentas (6.8%). Furthermore, newborns of malaria parasite‐positive mothers, umbilical cords, placentas and primiparae had lower mean birthweight than malaria‐negative mothers, placentas, umbilical cords and multiparae.

Conclusion: We suggest that parity and maternal and placental malaria parasitaemia at delivery have an important negative impact on birthweight, especially in first pregnancies. This observation emphasizes the need for appropriate aggressive intervention strategies such as the use of insecticide‐treated bed nets or intermittent preventive treatment to control malaria in pregnancy in the study area.
Prevalence and determinants of exclusive breastfeeding during hospital stay in the area of Athens, Greece
Authors: Pechlivani Fani , Vassilakou Tonia , Sarafidou Jasmin , Zachou Themis , Anastasiou Costas A , Sidossis Labros S
Published: August 2010

Aim: To assess breastfeeding practices, focusing on the prevalence and the determinants of exclusive breastfeeding during hospital stay. Methods: A cross‐sectional study of 1603 healthy women, who delivered healthy infants weighing more than 2500 g, was conducted in the area of Athens, Greece. Participants completed a self‐administered questionnaire on the day they were discharged from the maternity ward. Classification of breastfeeding and recall period from birth to discharge were in accordance with the WHO criteria. Hierarchical logistic regression analysis was used to study determinants of exclusive breastfeeding initiation. Results: Breastfeeding initiation was reported by 96.1% of the participants. However, exclusive breastfeeding was initiated only in 19.1% and predominant breastfeeding in 7.2% of the cases. The univariate analysis showed that maternal younger age, low educational level, unemployment, vaginal delivery, infant birthweight >3000 g, multiparity, early initiation of breastfeeding, rooming‐in and awareness on the existence of breastfeeding centres were associated with higher rates of exclusive breastfeeding. Logistic regression analysis revealed that rooming‐in (OR 3.72, p<0.01), demand feeding (OR 2.18, p<0.01), type of delivery (OR 1.61, p<0.01) and the source of information received about breastfeeding are more important determinants of exclusive breastfeeding than the socio‐demographic parameters.

Conclusions: Exclusive breastfeeding during hospital stay in the area of Athens is low. Demand feeding and rooming‐in positively influence exclusive breastfeeding initiation, while caesarean section and information by mass media have a negative impact.
Mother–child health research (IRN‐MCH): Achievements and prospects of an international network
Authors: de Thé Guy , Zetterström Rolf
Published: August 2010

The Inter‐Academy Panel (IAP) is critical about the scarce support to mother–child health (MCH) research in developing countries. At the request of the IAP, a group of members of the French and Swedish Academies of Science have arrived at the conclusion that an efficient network between scientists in resource‐poor and industrialized countries will facilitate MCH research in developing countries. The priorities for such a network have been listed as follows:

The present organization for the MCH website at the Pasteur Institute in Paris should be adapted to better promote collaboration between scientists from industrialized and developing countries.

To provide short‐term courses for young scientists from developing countries in the design of research protocols, and in the writing of scientific reports and manuscripts.

To organize workshops on various topics of relevance for MCH in developing countries in order to create new research networks for scientific collaboration between industrialized and resource‐poor countries.

To establish collaboration between non‐governmental organizations (NGOs) that support MCH research in developing countries.

Topics for such collaborative studies and the way in which they may be performed are summarized.
Beyond the insiders' circle: Disseminating the results of adolescent health surveys
Authors: Michaud Pierre‐Andre , Jeannin Andre
Published: August 2010

Adolescent health surveys, like those for other segments of the population, tend to remain in the hands of researchers, where they can have no real impact on the way critical health issues are dealt with by policy makers or other professionals directly connected to young people in their everyday work. This paper reviews important issues concerning the dissemination of survey results among professionals from various fields. The content, length and wording of the messages should be tailored to the audience one wants to reach as well as the type of channels used for their diffusion. Survey data sets can be used to select priorities for interventions: ad hoc presentations, attractive summaries and brochures, or even films expressing young peoples' opinions have been used by European public health professionals to make data sets usable in various local, regional and national contexts.

Conclusion: The impact of these diffusion strategies is, however, difficult to assess and needs to be refined. The adequate delivery of survey findings as well as advocacy and lobbying activities require specific skills which can be endorsed by specialized professionals. Ultimately, it is the researchers' responsibility to ensure that such tasks are effectively performed.
Expanding screening for rare metabolic disease in the newborn: An analysis of costs, effect and ethical consequences for decision‐making in Finland
Authors: Autti‐Rämö Ilona , Måkelå Marjukka , Sintonen Harri , Koskinen Hanna , Laajalahti Liisa , Halila Ritva , Kååriåinen Helena , Lapatto Risto , Nåntö‐salonen Kirsti , Pulkki Kari , Renlund Martin , Salo Matti , Tyni Tiina
Published: August 2010

Aim: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options. Method: A modelling study using data from current published studies, healthcare registers and expert opinion. Results: The annual running cost of screening 56 000 newborns for the chosen five disorders (congenital adrenal hyperplasia, medium‐chain acyl‐CoA dehydrogenase deficiency [MCADD], long chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency [LCHADD], phenylketonuria [PKU] and glutaric aciduria type 1 [GA 1]) was estimated to be €2.5 million or €45 per newborn when starting costs were included. The costs per quality‐adjusted life year (QALY) gained are a maximum of €25 500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of €18 000 per QALY gained.

Conclusions: Expanding the Finnish neonatal screening programme would require a new organization. The cost‐effectiveness, resources, ethics and equity need to be considered when deciding in favour of or against starting a new screening programme.
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations
Authors: de Boer Lonneke , Le Cessie Saskia , Wit Jan M
Published: August 2010

Aim: Nuclear receptor‐binding SET domain‐containing protein 1 (NSD1) gene mutations and deletions (NSD1+/−) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1+/− in patients clinically suspected of Sotos syndrome. Methods: In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/− patients and patients without NSD1 gene alterations (NSD1+/+). The statistical performance of these parameters to predict NSD1+/− was assessed. Results: Arm span‐for‐height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1+/− patients.

Conclusion: Arm span for height and hand length are discriminating parameters between NSD1+/− and NSD1+/+.
Erythrocyte membrane acetylcholinesterase, Na+, K+‐ATPase and Mg2+‐ATPase activities in patients with classical galactosaemia
Authors: Tsakiris Stylianos , Michelakakis Helen , Schulpis Kleopatra H.
Published: August 2010

Background: Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose‐1‐phosphate (Gal‐1‐P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. Aim: To evaluate Gal and Gal‐1‐P in the blood of patients and to correlate their levels with their erythrocyte membrane acetylcholinesterase (AChE), Na+,K+‐ATPase and Mg2+‐ATPase activities. Methods: Blood was obtained from nine patients on poor diet (group B) followed by a 30‐d strict diet (group A) and controls (group C) in order to evaluate Gal and Gal‐1‐P in Guthrie cards and to correlate their concentrations with the above enzyme activities, which were measured spectrophotometrically. Results: With the patients on a “loose” diet, AChE, Na+,K+‐ATPase and Mg2+‐ATPase activities were found to be decreased, as compared with those on strict diet and controls. Significantly (p<0.01) inverse correlation coefficients of the enzyme activities were found with Gal‐1‐P levels.

Conclusion: (a) AChE, Na+,K+‐ATPase and Mg2+‐ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal‐1‐P blood levels. (c) Since Na+,K+‐ATPase in the erythrocyte membranes is the isomer of Na+,K+‐ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal‐1‐P toxicity.
Fracture and non‐fracture pain in children with osteogenesis imperfecta
Authors: Zack Philip , Franck Linda , Devile Catherine , Clark Christine
Published: August 2010

Aim: To describe and compare the characteristics of acute fracture and chronic non‐fracture pain in children with osteogenesis imperfecta (OI). Methods: A questionnaire about fracture‐related pain and prospective 7‐d diary about non‐fracture‐related pain was completed by a random sample of 35 children aged 5–18 from a UK national OI service. Main outcome measures included pain intensity, location, frequency, quality, coping strategies and analgesia use. Results: Most children reported moderate to severe pain associated with fractures and less intense non‐fracture pain (p<0.001). Pain intensity was significantly higher in the children who used analgesics (p<0.001). The quality of fracture and non‐fracture pain differed only for affective words, which were less frequently used to describe non‐fracture pain (p=0.002). More activities of daily living (ADLs) were affected by fracture pain than by non‐fracture pain (p<0.001). Children reported more frequent use of approach coping strategies with fracture pain and more frequent use of distraction for non‐fracture pain (p<0.01). There were no differences in non‐fracture pain intensity, duration, quality, effect on ADLs or coping between children who did or did not take bisphosphonates.

Conclusions: Pain is a common occurrence for children with OI and is both acute and chronic in nature, interfering with children's daily living activities. OI pain may not be optimally treated because many children experienced moderate to severe pain despite use of analgesics and/or coping strategies.
Biomarkers in lysosomal storage diseases: a review
Authors: Cox TM
Published: August 2010

A biomarker is generally an analyte that indicates the presence or extent of a biological process, which is itself directly linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing and specific determinations of disease activity. These characteristics emphasize the value of surrogate biomarkers for non‐invasive and detailed monitoring to demonstrate the efficacy of orphan drugs in clinical trials. The emergence of novel laboratory methods has facilitated the search for biomarkers in lysosomal storage diseases (LSDs), by allowing the systematic identification of molecules whose expression is altered as a result of the primary storage pathology. In Gaucher disease, for example, a chemokine, CCL18, has been identified as a biomarker for clinical development that reflects disease severity and response to treatment.

Conclusion: New methods for the identification of novel biomarkers have the potential to provide mechanistic insights into the molecular pathogenesis of LSDs, including Fabry disease and Gaucher disease.
Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases
Authors: Aerts J M F G , Hollak C E M , van Breemen M , Maas M , Groener J E M , Boot RG
Published: August 2010

The value of biomarkers in the clinical management of lysosomal storage diseases is best illustrated by the present use of plasma chitotriosidase levels in the diagnosis and monitoring of Gaucher disease. The enzyme chitotriosidase is specifically produced and secreted by the pathological storage macrophages (Gaucher cells). Plasma chitotriosidase levels are elevated on average 1000‐fold in symptomatic patients with Gaucher disease and reflect the body burden on storage cells. Changes in plasma chitotriosidase reflect changes in clinical symptoms. Monitoring of plasma chitotriosidase levels is nowadays commonly used in decision making regarding initiation and optimization of costly therapeutic interventions (enzyme replacement therapy or substrate reduction therapy). A novel substrate has been developed that further facilitates the measurement of chitotriosidase in plasma samples. Moreover, an alternative Gaucher‐cell marker, CCL18, has been very recently identified and can also be employed to monitor the disease, particularly in those patients lacking chitotriosidase due to a genetic mutation. There is a need for comparable surrogate markers for other lysosomal storage diseases and the search for such molecules is an area of intense investigation.

Conclusion: The use of biomarkers can provide valuable insight into the molecular pathogenesis of LSDs, such as Gaucher disease and Fabry disease.
Prebiotic carbohydrates in human milk and formulas
Authors: Boehm Günther , Stahl Bernd , Jelinek Jürgen , Knol Jan , Miniello Vito , Moro Guido E
Published: August 2010

Human milk oligosaccharides play an important role, as prebiotic soluble fibres, in the postnatal development of the intestnial flora. Infant formulas are virtually free of prebiotic oligosaccharides. As a consequence, formula‐fed infants develop an intestinal flora significantly different to the flora of breastfed infants. Due to the complexity of human milk oligosaccharides, it is necessary to use alternative sources of prebiotic ingredients as components of infant formulas. The present review summarizes the data of experimental research and clinical studies with a prebiotic mixture containing 90% short‐chain galacto‐oligosaccharides and 10% long‐chain fructo‐oligosacchrides are summarized. The data demonstrate that, with this prebiotic mixture, the growth of bifidobacteria and lactobacilli can be stimulated, the faecal pH can be decreased, and the presence of pathogens can be reduced to levels similar to those of breastfed infants. Thus, prebiotic oligosaccharides such as the studied mixture provide beneficial effects for formula‐fed infants.
Galacto‐oligosaccharides and long‐chain fructo‐oligosaccharides as prebiotics in infant formulas: A review
Authors: Fanaro Silvia , Boehm Günther , Garssen Johan , Knol Jan , Mosca Fabio , Stahl Bernd , Vigi Vittorio
Published: August 2010

The present review summarizes clinical and experimental data concerning the possible effects of a prebiotic mixture of short‐chain galacto‐oligosaccharides and long‐chain fructo‐oligosaccharides. The results from several studies, made up of over 400 preterm and term infants, clearly demonstrate that the prebiotic mixture under examination specifically stimulates the growth of bifidobacteria and lactobacilli and reduces the growth of pathogens. As a consequence of the changed intestinal flora by the dietary galacto‐oligosaccharides and fructo‐oligosaccharides, the faecal pH values and the short‐chain fatty acid pattern were similar to those found in breastfed infants. In addition, the stool consistency was the same as in breastfed infants. In vitro experiments have demonstrated that the specific short‐chain fatty acid pattern, at a pH similar to that found in faecal samples of breastfed infants, reduces the growth of pathogens in a dose‐dependent manner but does not influence the growth of bifidobacteria and lactobacilli. In an animal vaccination model, the prebiotic mixture improved the response to vaccination. In an allergy model (sensitization by ovalbumin), the allergic reaction was reduced by the prebiotic mixture. The data obtained from animal experiments are in agreement with preliminary data from clinical trials which indicate a reduced allergic response (reduced plasma IgE/IgG4 ratio) and reduced episodes of upper airway infection during the first year of life.

Conclusion: Experimental evidence demonstrates that the prebiotic mixture employed in these studies modulates the intestinal flora and modulates the immune system as human milk does. There are sufficient experimental data to put forward the hypothesis that substances like the prebiotic mixture under study will substantially contribute to the improvement of the protective properties of infant formulas.
Hydrolysed milk in preterm infants: An open problem
Authors: Zuppa Antonio A , Visintini Federica , Cota Francesco , Maggio Luca , Romagnoli Costantino , Tortorolo Giuseppe
Published: August 2010

Aim: To review knowledge about the role, indications and nutritional adequacy of protein hydrolysate formulas (HF) in the preterm newborn. Methods: A review of the available literature was carried out. Results: No data support the use of HF for atopy prevention. HF could have a positive role in the early feeding of very‐low‐birthweight infants, but several concerns exist about their nutritional adequacy.

Conclusion: Further investigations addressing protein and mineral metabolism as well as long‐term effects, including neurodevelopment, are needed.
Feeding intolerance in very‐low‐birthweight infants: What is it and what can we do about it?
Authors: Neu Josef , Zhang Liyan
Published: August 2010

The increased survival of very‐low‐birth‐weight infants has resulted in the need to better understand the immaturities that challenge optimal nutrition for these infants and how to surmount them. This is critical if we are to prevent short and long term morbidity associated with poor nutrition. Here we describe several of these immaturities including those related to digestion and absorption, suck‐swallow incoordination, delayed gastric emptying, and intestinal motility and how they lead to the common problem of feeding intolerance. Scientifically based strategies for introducing, stopping and continuing enteral feedings in association with parenteral nutrition are presented.
Risk factors associated with the need for additional intravenous gamma‐globulin therapy for Kawasaki disease
Authors: Muta Hiromi , Ishii Masahiro , Furui Jun , Nakamura Yosikazu , Matsuishi Toyojiro
Published: August 2010

Aim: To investigate the characteristics of patients with Kawasaki disease who needed intravenous gamma‐globulin (IVGG) re‐treatment. Methods: Using the database of the 17th nationwide survey in Japan, a total 11 366 patients were identified and analysed (1855 re‐treatment patients and 9511 responders). Results: Multivariate logistic regression analysis showed that male sex (odds ratio (OR) 1.26; 95% CI 1.14–1.40), complete cases (OR 1.39; 95% CI 1.07–1.80), recurrence (OR 1.47; 95% CI 1.15–1.88), IVGG treatment within 4 d of illness (OR 2.05; 95% CI 1.84–2.27), daily dose of initial IVGG less than 1000 mg/Kg (OR 0.54; 95% CI 0.48–0.61), exanthema (OR 2.03; 95% CI 1.62–2.56), lips and oral lesions (OR 1.57; 95% CI 1.24–1.98), peripheral extremities changes (OR 1.85; 95% CI 1.54–2.22), and cervical lymphadenopathy (OR 1.89; 95% CI 1.66–2.16) were independent risk factors associated with the need for IVGG re‐treatment.

Conclusion: Male sex, recurrence, and treatment with IVGG at a dose of 1000 mg/d or less within 4 d of illness onset are independent risk factors associated with the need for IVGG re‐treatment.
Increased levels of BAL cysteinyl leukotrienes in acute RSV bronchiolitis
Authors: Keun Kim Chang , Yeon Koh Ji , Hee Han Tae , Kyun Kim Do , Il Kim Beyong , Yull Koh Young
Published: August 2010

Background: Cysteinyl leukotrienes (CysLTs), including LTC4, LTD4 and LTE4, are pivotal mediators in the pathophysiology of asthma. Aim: To determine whether CysLT levels are increased in the lower airways of children with respiratory syncytial virus (RSV) bronchiolitis, as they are in asthmatic children, and to investigate a possible heterogeneity in CysLT levels in children with RSV bronchiolitis. Methods:Bronchoalveolar lavage (BAL) fluids were obtained from children with acute RSV bronchiolitis (n=20), from children with acute asthma who had no identifiable virus infection (n=16) and from control subjects (n=14). BAL cell counts and differentials were determined, and the concentrations of CysLTs were measured by ELISA. Results: CysLT levels in the asthma (70.6±52.7 pg/ml, p < 0.001) and bronchiolitis groups (21.9±23.3 pg/ml, p < 0.05) were significantly higher than in the control group (8.7±5.2 pg/ml). Among bronchiolitis subjects, the eosinophil‐positive subgroup (n=6) showed significantly higher CysLT levels (49.0±26.7 pg/ml, p = 0.001) than the control group, but this was not observed in the eosinophil‐negative subgroup (n=14, 10.3±6.3 pg/ml, p = 0.47).

Conclusion: CysLT levels are increased in the lower airways during RSV bronchiolitis, although their intensities are lower than those in acute asthma. Among bronchiolitis subjects, high CysLT producers could be distinguished from low CysLT producers by the presence of eosinophilia in BAL fluids, suggesting a pathophysiological heterogeneity in RSV bronchiolitis.
Rapid control of norovirus gastroenteritis outbreak in an acute paediatric ward
Authors: Cheng F. W. T. , Leung T. F. , Lai R. W. M. , Chan P. K. S. , Hon E. K. L. , Ng P. C.
Published: August 2010

Aim: To provide a practical action plan for effective infection control of norovirus outbreak in acute paediatric wards.

Methods: We report the infection control measures that were implemented to terminate and to prevent nosocomial spread of norovirus gastroenteritis in an open‐designed paediatric ward.

Results: Nine children, one visitor, and one medical student were affected in a norovirus gastroenteritis outbreak in an acute paediatric ward. Vomiting was the main presenting symptom. The outbreak was rapidly terminated three days after implementation of stringent infection control measures and there was no second wave of attack. These measures included strict contact precautions, prompt isolation and cohorting of symptomatic patients, vigorous environmental cleansing with concentrated disinfectant (hypochlorite solution 1000 ppm), meticulous handling of waste products, and efficient contact tracing of exposed patients, family members, and medical students.

Conclusion: Prompt implementation of stringent infection control measures and contact tracing can rapidly terminate the norovirus outbreak and prevent a second wave of infection. Children with unexplained vomiting and those with contact history of gastroenteritis should be properly triaged, isolated, and investigated for possible infective causes, including norovirus‐induced gastroenteritis.
Respiratory Tract Malacia: Possible cause of sudden death in infancy and early childhood
Authors: Rohde Marianne , Banner Jytte
Published: August 2010

Aim: To stress the importance of considering Laryngo‐tracheo‐bronchomalacia (LTBM) as a cause of death in infancy and early childhood. Methods: A case of Tracheo‐bronchomalacia diagnosed at autopsy is presented, with a short review of the literature. Results: The condition causes functional weakness of the airways due to congenital or acquired abnormalities of airway cartilage. The etiology of the congenital variant is uncertain; the acquired may be caused by localized external pressure. Morphologically, cartilage rings are shorter and softer than normal, causing collapse, especially during forced expirations. The defect can be an isolated finding, but there are a number of associations with other malformations. LTBM may be misdiagnosed as asthma. Symptoms include wheezing, barking cough, frequent respiratory infections and cyanotic episodes. Treatment might be conservative or include surgery, depending on etiology and severity. Conclusion: Laryngo‐tracheo‐bronchomalacia (LTBM) is usually not considered a sufficient cause of death in infancy and early childhood, but airway malacia may be an unrecognized cause of sudden death in infancy and early childhood, and should be considered, especially in cases where there is a history of respiratory distress.
Hypoglycaemia and seizures in large‐for‐gestational‐age (LGA) full‐term neonates
Authors: Groenendaal Floris , Elferink‐Stinkens Patty M. ,   The Netherlands Perinatal Registry
Published: August 2010

Aim/methods: To assess the risk of hypoglycaemia‐associated seizures in large‐for‐gestational‐age (LGA) full‐term neonates data from the Netherlands Perinatal Registry were analysed. Results: From 1997 to 2002 hypoglycaemia was recorded in 1513 of 9318 (16.2%) admitted LGA (defined as birthweight ≥97.7 percentile) full‐term neonates without maternal diabetes, of whom 20 (1.3%) had seizures. In six of these 20, hypoglycaemia was the single cause of seizures.

Conclusion: Symptomatic hypoglycaemia occurs in healthy LGA full‐term neonates.