Christensen R.D.,Intermountain Healthcare |
Christensen R.D.,y Dee Hospital Center |
Yaish H.M.,University of Utah |
Johnson C.B.,Pediatric Clinic |
And 2 more authors.
Journal of Pediatrics | Year: 2011
We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous. © 2011 Mosby Inc. All rights reserved.
Tilma J.,Aarhus University Hospital |
Tilma K.,Pediatric Clinic |
Norregaard O.,Aarhus University Hospital |
Ostergaard J.R.,Aarhus University Hospital
Acta Paediatrica, International Journal of Paediatrics | Year: 2013
Aim To describe symptoms of restless legs syndrome (RLS) in early childhood and the effect of oral iron treatment. Methods A study population comprising 22 children, 15 males and seven females referred for paediatric evaluation because of sleep disturbances. Presence of RLS was evaluated using the International RLS Study Group consensus criteria of RLS. In case of ferritin level below 50 ng/mL, oral iron treatment was initiated. Fourteen were examined by polysomnography as well, and periodic limb movement index during sleep (PLMSI) was calculated. Relief of symptoms was recorded by the parents and correlated with ferritin levels and PLMSI. Results Median age at onset of symptoms was 7.5 months (0-40 months). The most striking single symptom was awakening after 1-3 h of sleep followed by screaming, crying, kicking or hitting the legs. Oral iron supplementation had a positive ferritin-concentration-dependent clinical effect. A relation between high PLMSI and low ferritin levels was demonstrated. Conclusion Symptoms of RLS may start as early as the first year of life, are accompanied by low ferritin levels and a high PLMSI and can be ameliorated by iron supplementation. An increased awareness and knowledge of RLS in early childhood are warranted. © 2013 Foundation Acta Pædiatrica.
Edefonti V.,University of Milan |
Rosato V.,University of Milan |
Parpinel M.,University of Udine |
Nebbia G.,Pediatric Clinic |
And 6 more authors.
American Journal of Clinical Nutrition | Year: 2014
Background: Most studies that assess the effects of breakfast on subsequent mental abilities compared performance in subjects who had or had not consumed this meal. However, characteristics of breakfast itself may induce metabolic and hormonal alterations of the gastrointestinal tract and potentially modify cognitive performance. Moreover, as far as the evidence on the positive effects of having breakfast is becoming more robust, interest may shift to the specific characteristics of an adequate breakfast. Objective: The objective was to summarize existing evidence on the role of nutrient composition or energy intake at breakfast on the accomplishment of school-related tasks and cognition. Design: We conducted a systematic review of the literature through the PubMed database. Results: From the literature search, we identified 102 articles, 15 of which met the inclusion criteria. Of these, 3 studies provided information on the relation between cognitive and academic performance and energy intake at breakfast, 11 provided the same information for the macronutrient composition of breakfast, and 1 investigated both the aspects. Eleven studies considered breakfast meals differing in glycemic index/load. Selected studies were generally carried out in well-nourished children and adults of both sexes from general education. They were mostly experimental studies of short duration and had a limited number of subjects. Cognitive and academic performance was investigated by looking at multiple domains, including memory, attention, reasoning, learning, and verbal and math abilities, with a variety of test batteries scheduled at different time points in the morning. Breakfast options differed in terms of included foods and place and time of administration. Conclusions: There is insufficient quantity and consistency among studies to draw firm conclusions. However, whereas the hypothesis of a better and more sustained performance with a breakfast providing >20% daily energy intake still needs substantiation, there does appear to be emerging, but still equivocal, evidence that a lower postprandial glycemic response is beneficial to cognitive performance. © 2014 American Society for Nutrition.
Galeva I.,Pediatric Clinic |
Konstan M.W.,Rainbow Babies and Childrens Hospital |
Higgins M.,Novartis |
Angyalosi G.,Novartis |
And 4 more authors.
Current Medical Research and Opinion | Year: 2013
Background: Tobramycin inhalation powder (TIP) was reported to be effective in two Phase III studies in patients with cystic fibrosis (CF) chronically infected with Pseudomonas aeruginosa (Pa). The EDIT study evaluated the efficacy and safety of TIP manufactured by an improved process in CF subjects aged 6-21 years. Methods: CF patients with a forced expiratory volume in 1 second (FEV1) ≥25% to ≤80% predicted, positive Pa cultures and inhaled antipseudomonal therapy naïve (or at least for past 4 months) were enrolled into this double-blind, multicenter trial. Patients were randomized to receive TIP or placebo (1:1) twice daily for one treatment cycle (28.5 days on drug, 28 days off drug). The primary endpoint was relative change in FEV1 percentage predicted from baseline to day 29. A pre-specified sensitivity analysis evaluated absolute change in FEV1% predicted. Other endpoints included Pa sputum density and safety. Results: A total of 62 patients out of a target of 100 (mean age 12.9 years, baseline FEV1 59.2% predicted, Pa sputum density 7.4 log10 colony forming units [CFU] per gram) were randomized. Mean treatment differences (TIP - placebo) were 5.9% (p=0.148) and 4.4% (p<0.05) for relative and absolute change in FEV1% predicted respectively. TIP significantly reduced Pa sputum density by -1.2 log10 CFU (p=0.002). Treatment with TIP was well tolerated. Conclusions: Relative change in FEV1% predicted with TIP treatment was in the expected range based on the literature, but did not reach statistical significance versus placebo. Placebo control and use of treatment naïve patients led to significant recruitment challenges and an underpowered study with consequent impact on the generated data. However, significant improvements in other outcomes including absolute change in FEV1% predicted and reduction in Pa sputum density indicate that TIP is efficacious and well tolerated in CF patients. © 2013 Informa UK Ltd.
Schwartz J.,University of Bonn |
Dube K.,University of Bonn |
Alexy U.,University of Bonn |
Kalhoff H.,Pediatric Clinic |
Kersting M.,University of Bonn
European Journal of Clinical Nutrition | Year: 2010
Background: An appropriate supply of n-3 long-chain polyunsaturated fatty acids (LC-PUFAs) during early childhood may enhance cognitive development. Little attention is paid to the fatty acid (FA) supply during the complementary feeding period. We examined the polyunsaturated fatty acids (PUFAs) and LC-PUFAs pattern in dietary practice of two study groups and evaluated the results against the present Dietary Guidelines in Germany. Methods: The food consumption and FA pattern of dietary practice in subjects from two prospective studies (n=102 and n=184, respectively) at the age of 3, 6 and 9 months was assessed by weighed diet records, and changes during the first year of life were compared with the food-based dietary guidelines for the first year of life. Results: Dietary practice in the complementary feeding period was clearly dominated by commercial food products. The FA composition in dietary practice was different from the Guideline Diet and the ratio of n-6/n-3 PUFAs was less favorable. Consumption of breast milk or formula was still of major importance for the intake of LC-PUFAs in the complementary feeding period. Conclusion: LC-PUFAs are predominantly provided by breast milk and formula during the first year of life and consequently decrease when milk consumption decreases. For compensation, commercial complementary food might come closer to the Guideline Diet by lowering the n-6/n-3 PUFA ratio through appropriate vegetable oil along with an increase in total fat content up to the legal limit. © 2010 Macmillan Publishers Limited All rights reserved.
Krupp D.,University of Bonn |
Johner S.A.,University of Bonn |
Kalhoff H.,Pediatric Clinic |
Buyken A.E.,University of Bonn |
Remer T.,University of Bonn
Journal of Nutrition | Year: 2012
Nonalcoholic fatty liver disease (NAFLD), frequently already present in young subjects, has been linked to reduced growth hormone levels and signaling. Similar hormonal changes occur during metabolic acidosis (MA), which may thus contribute to an increased NAFLD risk. Because subclinical MA can be diet induced, we aimed to examine whether a higher dietdependent acid load during adolescence is prospectively associated with several currently used NAFLD surrogates in young adulthood. Dietary acidity during adolescence (boys:10-15 y, girls: 9-14 y) was calculated as potential renal acid load (PRAL) from at least three 3-d weighed dietary records according to a published algorithm considering dietary protein and minerals in 145 healthy participants. Routine measurements derived from blood analysis and anthropometric data in participants' young adulthood (18-25 y) were used to determine the NAFLD surrogates alanine-aminotransferase (ALT), hepatic steatosis index (HSI), and fatty liver index (FLI). Sex-stratified linear regression models, adjusted for dietary fiber, saturated fat, protein, and adolescent BMI SD scores, were run with PRAL as the independent variable. Dietary PRAL during puberty was positively associated with ALT (P = 0.02), HSI (P = 0.002), and FLI (P = 0.005) in adult females but not males. Females with an adolescent dietary acid load in the highest tertile had 3.5, 4.4, and 4.5 higher values of ALT, HSI, and FLI as adults, respectively, compared to females with the lowest PRAL. The present findings suggest that higher dietary acidity in adolescence may be prospectively associated with hepatic lipid accumulation in females. Whether this relationship is due to the higher proton load or rather represents an unhealthy dietary pattern requires further investigation. © 2012 American Society for Nutrition.
Esposito S.,Pediatric Clinic |
Semino M.,Pediatric Clinic |
Picciolli I.,Pediatric Clinic |
Principi N.,Pediatric Clinic
European Journal of Paediatric Neurology | Year: 2013
Bacterial meningitis is one of the most serious infections in infants and children, with considerable morbidity and mortality. Despite the spreading of conjugated vaccines against Haemophilus influenzae type b (Hib), the most important pneumococcal serotypes and serogroup C meningococcus has reduced the incidence of this infection in developed countries, it still remains a global public health problem and an important cause of mortality and disability. Whether corticosteroids should be used as a complementary therapy to antibacterials is still not clear because of the disparate findings from clinical trials and clinical evidence. The aim of this review is to analyze the available evidence on the impact of corticosteroid therapy in infants and children with bacterial meningitis in developed countries in order to define whether they should be added routinely in the empiric therapy of such disease. Our analysis concluded that in high-income countries dexamethasone has shown good results to prevent hearing loss in Hib meningitis if administered before or at the same time as the first dose of antibiotics. Dexamethasone should be evaluated in pneumococcal meningitis: it may be less beneficial in children with delayed presentation to medical attention and may be unfavourable in case of cephalosporin-resistant pneumococci. On the contrary, there is no evidence to recommend the use of corticosteroids in meningococcal meningitis. Further studies that take into account the epidemiologic changes of recent years, consider enrolment based on the onset of symptoms and evaluate outcomes such as hearing loss and neurologic sequelae with advanced techniques are urgently needed. © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Calcaterra V.,University of Pavia |
Martinetti M.,Immunohematology and Transfusion Center |
Salina A.,Pediatric Clinic |
Aloi C.,Pediatric Clinic |
Larizza D.,University of Pavia
Acta Diabetologica | Year: 2012
Even though autoantibodies to pancreatic islet cells are normally found in type 1 diabetes and insulin-resistance due to overweight is more reminiscent of type 2 diabetes, some studies have described β-cell antibodies also in maturity-onset diabetes of the young (MODY) and in type 2 diabetes. A 7-year-old girl was referred to our Unit for incidental hyperglycemia and family history of MODY2 and type 2 diabetes. Genetic evaluation confirmed mutation L134P in exon 4 of the glucokinase gene and a high HLA-risk of type 1 diabetes. During follow-up, she developed type 1 diabetes and overweight-induced metabolic syndrome. The coexistence of MODY, type 1 diabetes and overweight-induced metabolic syndrome confirms that diabetes subtype probably represents a continuum of immune and metabolic dysfunction modified by genetic factors. © 2011 Springer-Verlag.
Dube K.,University of Bonn |
Schwartz J.,University of Bonn |
Mueller M.J.,University of Kiel |
Kalhoff H.,Pediatric Clinic |
Kersting M.,University of Bonn
Clinical Nutrition | Year: 2010
Background & aims: Breastfed infants may be at particular risk for iron deficiency because breast milk is low in iron. In a secondary analysis of data from a complementary feeding trial, indicators of iron status were examined, with particular focus on the development of iron status in those infants who were fully breastfed during the first 4 months of life. Methods: In this retrospective analysis of data from a randomized controlled trial infants were stratified according to their predominant milk diet during the first 4 months of life, a subgroup of breastfed infants (group BM, n = 53) were compared with a subgroup of infants fed (iron-fortified) formula (group F, n = 23). Dietary iron intake and indicators of iron status were analysed at 4 months of age (during the full milk feeding period), and during the complementary feeding period at 7 and 10 months of age. Results: Iron intake was low in the BM group, ranging below the Dietary Reference Intakes throughout the complementary feeding period, with the (estimated) bioavailable iron intake only just achieving the reference requirements. At 4 months, iron deficiency (ID, Ferritin <12.0 ng/mL) was observed in 3 infants in the BM group and in 1 infant in the F group; no infant developed iron deficiency anaemia (IDA, ID and Hb <10.5 g/dl). At 7 and at 10 months of age, iron status was adequate in all infants of the F group. In the BM group, at 7 (10) months of age, ID was diagnosed in 10 (11) infants and IDA was found in 2 (1) infants. Conclusions: Healthy infants, fully breastfed at 4 months of age, demonstrated ID in about 21% and IDA in up to 6% during the second half of infancy while fed according to the paediatric dietary guidelines. This finding supports the recommendation that supplementation with bioavailable iron via complementary foods should be started early (4-6 months of age) in order to prevent iron deficiency during infancy. Study registration number (www.clinicaltrials.gov): NCT00571948. © 2010 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.
Pop-Jordanova N.,Pediatric Clinic |
Gucev Z.,Pediatric Clinic
Pediatrics International | Year: 2010
Background: Peripheral biofeedback is considered to be an efficient method for assessment and stress mitigation in children. The aim of the present study was to assess the levels of stress and stress mitigation in healthy school children (HSC), in children with cystic fibrosis (CF), general anxiety (GA) and attention-deficit-hyperactivity disorder (ADHD). Methods: Each investigated group (HSC, CF, GA, ADHD) consisted of 30 school-aged children from both sexes. Psychological characteristics were evaluated on Eysenck Personality Questionnaire (EPQ). The lie scale was used to determine participant honesty. Four biofeedback games using a pulls detector were applied for assessment of the stress levels as well as to evaluate ability to relax. Results: EPQ found more psychopathological traits (P < 0.001) and less extroversion (P < 0.001) in children with GA and ADHD. In addition, high neurotic tendencies were found in children with CF (P < 0.01) and GA (P < 0.01). Unexpectedly, the lie scale was lower in ADHD children (P < 0.01) than in all other groups (HSC, CF, GA). The Magic blocks score was significantly different in relaxation levels between control and CF children (P < 0.05). Speed in the game Canal was significantly different in relaxation levels between healthy controls and all other groups, but no changes in pulls, as a relaxation measure, were found during the game. The CF group had much more commissions stemming from impulsivity (t = 5.71, P < 0.01), while the GA and ADHD children had more inattention omissions (P < 0.05). Strong negative correlation between age and pulls (r = 0.49, P = 0.003) and strong negative correlation between age and omissions (r = -0.86, P = 0.029) were found among all groups analyzed. Conclusions: The ability to learn stress mediation is correlated with age. All three groups of children had significantly lower relaxation levels when compared to healthy controls. Relaxation was more difficult for children with GA or ADHD, and easier for children with CF. © 2010 Japan Pediatric Society.