bluuebunny/crossref_metadata_2025 huggingface dataset:
The Natural History of Screening Detected IgA Glomerulonephritis in Children
Authors: HISANO S. , KAWANO M. , KAKU Y. , YAMANE I. , HATAE K. , URAGOH K. , MATSUZAK1 A. , UEDA K.
Published: August 2010

ABSTRACT. The clinical course of 43 children with IgA glomerulonephritis detected by mass urine screening was followed for a mean period of 8.1 years. Histological findings were graded according to the severity of glomerular and tubulointerstitial lesions. There was no correlation in the severity of histological grade and clinical outcome between subjects with microscopic hematuria and those with microscopic hematuria and pro‐teinuria nor between those with and without one or more episodes of macroscopic hematuria during the follow‐up period. None of the 35 children with proteinuria ≤ 1 g/m2/day had severe histological findings or developed renal impairment. In contrast, the 8 children with proteinuria > 1 g/m2/day had moderate and severe histological findings. Four of these 8 children developed hypertension or renal insufficiency during the follow‐up period. Our study indicates that the outcome of screening detected IgA glomerulonephritis in children correlates with the level of proteinuria and the severity of renal pathology.
Epidemiology of Absence Epilepsy: III. Clinical Aspects
Authors: And I. OLSSON , HAGBERG G.
Published: August 2010

ABSTRACT. Absence epilepsy was studied in a Swedish population, aged 0–15 years, in 1978–1982. Cases were selected by electroencephalographic criteria. In the 134 children with 3 Hz spike‐and‐wave discharges, 97 (72.4%) had absences alone or in combination with generalized tonic‐clonic seizures (grand mal): 56 had absences alone, 31 absences followed by grand mal, and 10 started with initial grand mal. Two distinct groups could be discerned: 1) childhood absence epilepsy: onset before the age of 12, with a quick response to therapy, little or no risk of grand mal, and a high remission rate; 2) juvenile absence epilepsy: onset at the age of 12 or later, a very high risk of grand mal, and usually a good response to therapy, but a high risk of relapses at withdrawal. This classification of absence epilepsy into subgroups may be useful for prognostic guidelines.
Nose Tapping Test Inducing a Generalized Flexor Spasm: A Hallmark of Hyperexplexia
Authors: SHAHAR ELI , BRAND NATAN , UZIEL YOSEPH , BARAK YEHUDAH
Published: August 2010

ABSTRACT. The present report describes a benign disorder of neonates or young infants presenting with generalized hypertonicity accompanied by brisk muscle stretch reflexes, intermittent clonus, and exaggerated startle response. This condition is termed hyperexplexia, and may be either familial or sporadic. Two affected families are reported: Two sisters and their mother are involved in the first family; in the second family, where the parents are asymptomatic first degree cousins, all three siblings suffer from hyperexplexia of various severity. Nose tapping in infants of affected families induced a uniform reaction of facial twitching accompanied by head extension, and a generalized flexor spasm, all of which may be a hallmark of hyperexplexia. Severely hypertonic infants were treated with small doses of benzodiazepines and improved markedly, all becoming asymptomatic by two years of age. Unnecessary investigation and treatment may be avoided by sufficient awareness of possible hyperexplexia.
School Readiness and CNS Maturity: Relation to Psychophysical and Psychosocial Development and to Early School Achievement
Authors: FRISK M.
Published: August 2010

ABSTRACT. In randomly selected schools 113 girls and 102 boys were subjected to a School Readiness (SR) test and to a Complex Reaction Time (CRT) measurement at the age of 7. Their psychophysical development, social adjustment and school achievement were assessed by teachers and by means of self‐ratings during the first 3 school years. The developmental outcome of the children seemed principally related to CNS‐maturity as measured by CRT, and not to the SR test scores. A CNS‐dysfunction, indicated by slow CRT, seemed to be an essential handicap during the early school years, impairing particularly the boys' language and motor development and their school achievement and causing feelings of inferiority. This handicap, which is mainly a developmental delay, should thus be taken into consideration when assessing school maturity. Early detection of this handicap might enable us to take preventive measures with regard to these children.
Faecal Incontinence due to Perianal Cellulitis
Authors: GOODYEAR H. M. , KNOWLES L. , HARPER J. I.
Published: August 2010

ABSTRACT. A 4‐year‐old boy presented with a 6‐week history of painful defaecation and faecal incontinence due to streptococcal perianal cellulitis. After treatment with a 10‐day course of oral penicillin his symptoms had fully resolved. Early diagnosis and treatment of this under‐recognised condition is essential.
Imerslund‐Gräsbeck Syndrome in a Saudi Family
Authors: ABDELAAL M. A. , AHMED A. F.
Published: August 2010

ABSTRACT. Imerslund‐Gräsbeck syndrome, an autosomal recessive trait of defective uptake of intrinsic factor‐vitamin B12 complex by terminal ileum, is described in a Saudi family (two siblings and their first cousin). This rare disease has previously been reported only in Northern European and North African Jewish ethnic groups.
Serum profiles of insulin‐like growth factors and their binding proteins in adults with growth hormone receptor deficiency treated with insulin like growth factor I
Authors: Fielder PJ , Gargosky SE , Vaccarello M , Wilson K , Cohen P , Diamond F , Guevara‐Aguirre J , Rosenbloom AL , Rosenfeld RG
Published: August 2010

Six adult patients with growth hormone receptor deficiency (GHRD) (2 men, 4 women) with an identical defect in the growth hormone receptor (GHR) gene, were treated with recombinant human insulin‐like growth factor I (IGF‐I), 40 μgikg S.C. twice daily, for 7 days. Serum concentrations of IGF peptide and IGF binding protein‐3 (IGFBP‐3) were measured by specific radioimmunoassays; serum IGFBPs were also measured by Western ligand blotting. The size distribution of both IGF‐I and IGF‐II was measured in serum following size‐exclusion fast‐performance liquid chromatography. IGF‐I treatment resulted in a normalization of serum IGF‐I levels on days 1–7 of treatment and a decrease in serum IGF‐II levels. The fall in IGF‐II levels and the simultaneous rise in IGF‐I levels, however, resulted in an unchanged total serum IGF level. The low IGFBP‐3 values did not significantly change during treatment, whereas there was a slight increase in IGFBP‐2 levels. Preliminary analysis of size‐fractionated sera suggested an increase in IGF‐I levels in the 40 and 150 kDa regions at the expense of IGF‐II levels. The results suggest that despite the failure of IGF‐I treatment to increase IGFBPs significantly, serum IGFBP concentrations were sufficient to maintain normal levels of IGF‐I. 0 Laron syndrome, growth hormone receptor deficiency, insulin‐like growth factors, insulin‐like growth factor binding protein
Factors determining recovery during nutritional therapy of persistent diarrhoea: the impact of diarrhoea severity and intercurrent infections
Authors: Bhutta ZA , Nizami SQ , Thobani S , Issani Z
Published: August 2010

Abstract The recovery pattern and outcome were analysed in 261 consecutive children (age 6–36 months) with persistent diarrhoea who underwent inpatient nutritional rehabilitation with a rice‐lentil (Khitchri) and yoghurt‐based diet. Overall. 217 (83%) recovered successfully, as judged by a reduction in stool output and weight gain for a consecutive 3 d. Failures were more commonly febrile at admission [odds ratio (OR) 2.3, 95% confidence interval (CI) 1.1–4.8] and a greater number had culture‐proven sepsis (Fisher's exact test, p < 0.001). Logistic regression analysis identified significantly increased risk of treatment failure with several admission characteristics, including stool frequency > 5 d‐1 (OR 2.9, 95% CI 1.6‐5.2), vomiting (OR 2.5, 95% CI 1.1–5.7) and sepsis (OR 2.8, 95% CI 1.1–7.5). Survival analysis revealed significantly longer time‐to‐recovery among children with stool frequency > 5 d‐1 at admission (p < 0.001), suspected sepsis necessitating intravenous antibiotics (p < 0.001) or oral candidiasis (p < 0.05). These findings suggest that severity of diarrhoea and coexisting systemic infections are key determinants of the response to nutritional therapy in children with persistent diarrhoea.
Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long‐acting triptorelin therapy
Authors: Xhrouet‐Heinrichs D , Lagrou K , Heinrichs C , Craen M , Dooms L , Malvaux P , Kanen F , Bourguignon J‐P
Published: August 2010

Abstract The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long‐acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6–10.4 y of age, height, weight and pubertal development were evaluated at 3‐month intervals over 2 y. Semi‐structured interviews were carried out with the patient, the parents and the pediatric endocrinologists at 1, 8, 16 and 24 months after diagnosis. Standardized questionnaires (Child Behavior Checklist, Self‐esteem Inventory) were administered at 1 and 24 months or 16 and 24 months, respectively. There was a mean 1.5‐y delay between the observation of signs of puberty as reported by the parents and the diagnosis of precocious puberty at the first consultation of a pediatric endocrinologist. Before follow‐up, all 20 girls were very concerned about physical differences from peers, particularly breast development. During therapy, breast regression to minimal or absent development occurred in 5/15 treated patients, who then no longer felt embarrassed about pubertal development in contrast to the other patients. Fear of sexuality remained obvious throughout the study in most patients. Feelings of loneliness and exemplary behavior were observed and tended to decrease in the treated patients and to increase in the untreated patients. Elevated scores of withdrawal, anxiety/depression and somatic complaints at Child Behavior Checklist were still observed after 2 y. These changes in behavioral and affective characteristics appeared to be related neither to height and weight, nor to development of pubic hair, which progressed in most patients. After 2 y, the physical differences remained a concern for 13 girls and the risk of short adult stature for 6. In summary, some behavioral and affective characteristics and particularities in psychosocial functioning are observed in girls with precocious puberty. During treatment with long acting triptorelin, problematic behavior and functioning decrease slightly, particularly in the few girls showing breast regression to minimal or absent development.
Plasma somatostatin and cholecystokinin levels in sick preterm infants during their first six weeks of life
Authors: Törnhage C‐J , Serenius F , Uvnäs‐Moberg K , Lindberg T
Published: August 2010

Abstract The present study reports the levels of plasma somatostatin and cholecystokinin in 19 preterm infants with asphyxia [n=10, GA (median; range) 26; 23–30 weeks] and respiratory distress syndrome (n= 14, GA 27; 23–29 weeks) compared with preterm infants without any of these conditions (reference group, n= 59, GA 33; 25–36 weeks). In the reference group 37 infants received phototherapy and their peptide levels were compared with those not receiving phototherapy (n= 22). Plasma somatostatin and cholecystokinin were analysed by specific radioimmunoassays on day 1, day 3–4 and at 6 weeks of life. Plasma somatostatin levels, but not cholecystokinin levels, of reference infants were inversely related to gestational age on day 1 and day 3–4. Asphyxiated infants and infants with respiratory distress syndrome had significantly higher somatostatin levels than reference infants on day 1 and day 3–4. These differences disappeared when the levels were adjusted for gestational age. Plasma cholecystokinin levels were not influenced by respiratory distress syndrome and asphyxia. Phototherapy did not affect plasma somatostatin and cholecystokinin levels.
Transient elevation of aldosterone levels in perinatal asphyxia
Authors: Pereira DN , Procianoy RS
Published: August 2010

Abstract We measured plasma aldosterone levels in cord blood and peripheral blood collected 18–24 h after birth in 19 asphyxiated and 19 normal term newborn infants. The asphyxiated newborn infants had significantly higher aldosterone levels in cord blood than the normal newborn infants. At 18–24 h after birth there was no difference between the groups with respect to aldosterone levels. There was a positive significant correlation between aldosterone levels and PCO2 in cord blood by multiple linear regression analysis. There is a transient elevation of aldosterone levels in perinatal asphyxia.
The febrile stress of routine vaccination does not increase central apnoea in normal infants
Authors: Tappin DM , Ford RPK , Nelson KP , Price B , Macey PM , Dove R
Published: August 2010

Abstract We tested the hypothesis that the febrile stress of routine vaccination would increase central apnoea in normal infants. Twenty‐one normal infants had continuous overnight breathing and temperature recorded at home, before and after 58 routine vaccination episodes. Central apnoea, of at least 5 sec duration, was detected by computer algorithm and confirmed by human inspection. The longest recorded apnoea was 16 sec (n= 1) during 3629 h of sleep. Overnight rectal temperature increased after vaccination (median 0.52°C, 95% CI 0.40, 0.65). Apnoea density reduced on 46/53 vaccination nights (median ‐29%, 95% CI ‐20, ‐37) followed by an increase on subsequent nights (median +10%, 95% CI +1%, +21%). Overall, apnoea density was similar during the 3 nights preceding and 4 nights following vaccination (median +1%, 95% CI +9,‐6). The febrile stress of routine vaccination did not increase central apnoea in normal infants.
Rationality of routine health examinations by physicians of 18‐month‐old children: experiences based on data from a Swedish county
Authors: Magnusson M
Published: August 2010

Abstract The aim of the present study was to evaluate the rationality of health check‐ups by a physician of 18‐month‐old children. The study population consisted of all 4075 children in Uppsala county who were 18 months old in 1994 and should have had a routine health examination at that point. Information about the 18‐month health examination came from primary data in a longitudinal child health register regarding all children of preschool age. The children in the study population were classified into two main categories, namely children with no newly detected health problem (92.6%) and children in whom a new health problem was detected (3.3%). Data from the register and other sources were analysed to categorize the health problems by severity and type and to determine who (parents, nurse or physician) had identified each. Among the 4075 children in the study population, 135 children were identified as having a newly detected health problem. One‐third of them were actually healthy (false positive). Among the 92 verified new health problems (2.3%), 48 were minor, 42 were moderate and 2 were severe. More than half of the moderate health problems were transient infections. The main conclusion of the study is that, undercurrent conditions in Sweden, it would be reasonable to replace the 18‐month examination by a physician with an examination by a nurse, this examination being particularly orientated towards developmental and psychosocial problems.
Folic acid in the treatment of acute watery diarrhoea in children: a double‐blind, randomized, controlled trial
Authors: Mahalanabis D , Ashraf H , Rahman MM , Fuchs GJ
Published: August 2010

One‐hundred and six male children aged 6‐23 months with a history of acute watery diarrhoea of less than 72 h duration were randomized to receive either folic acid in a dose of 5 mg at 8‐h intervals or placebo for 5 d. There were 54 children in the folic acid group and 52 in the placebo group. The admission characteristics were comparable between the two groups. No significant differences were observed in the intake of oral rehydration solution or stool output between the groups. The mean ± SD of total stool output (g kg−1) was 532 ± 476 vs 479 ± 354 and the duration (h) of diarrhoea was 108 ± 68 vs 103 ± 53 in the folic acid vs placebo group, respectively. The findings, therefore, should have a positive influence on preventing the inappropriate use of folic acid in acute diarrhoea.
Adenosine deaminase activity in protein‐energy malnutrition
Authors: Mishra OP , Agrawal S , Ali Z , Usha
Published: August 2010

Cell‐mediated immunity (CMI) was evaluated in 69 children with protein‐energy malnutrition (PEM) and 20 healthy controls. Significantly decreased responses to purified protein derivative (PPD) (p < 0.02) and absolute lymphocyte count (ALC) (p < 0.01) and increased serum adenosine deaminase (ADA) activity (p < 0.001) were observed in PEM cases compared with the controls. The mean values of ALC and ADA activity in PEM patients were 85.9% and 158.7% of the normal mean, respectively. A significant negative correlation was observed between the two parameters (r =−0.2765, p < 0.01). The CMI tests were abnormal in all three grades of PEM, except for the response to PPD in grade I, when compared with the controls. No significant differences were found between infected and uninfected PEM cases. Thus, impaired CMI was observed not only in grades II and III but also in grade I PEM patients and the concomitant infection did not affect its status. However, ADA activity demonstrated a more pronounced change than the other tests
Expression of the VLA family of integrins in coeliac intestinal mucosa
Authors: Ladinser B , Pittschieler K
Published: August 2010

The integrins, a family of cell surface proteins, mediate cell adhesion and may influence within the intestinal mucosa processes such as migration and/or proliferation and differentiation of enterocytes and lymphocytes. The aim of this study was to examine the distribution pattern of integrin subunits (VLA α1, α2, α3, α4, α5, α6, β1 chains) in normal intestinal mucosa and in that of patients with active coeliac disease (CD) and CD in remission. Immunohistochemical techniques and double immunostainings with monoclonal antibodies were used for investigation of the VLA α family of integrins and β1 chain distribution. While the majority of the findings are consistent with the few data previously reported in the literature, surprising is the finding of a lack of expression of VLAα1 on the intraepithelial lymphocytes in the coeliac mucosa. The deficient VLA α1 expression on IEL in coeliac but not in normal mucosa may imply a genetic variation or a specific deficiency of gene expression during T cell differentiation and activation.
Collagen‐derived markers of bone metabolism in osteogenesis imperfecta
Authors: Lund AM , Hansen M , Kollerup G , Juul A , Teisner B , Skovby F
Published: August 2010

Markers of bone formation [C‐terminal and N‐terminal propeptides of procollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption [C‐terminal cross‐linked telopeptide of collagen I (ICTP) and hydroxypyridinium cross‐links, pyridinoline (Pyr) and deoxypyridinoline (Dpyr)] were measured in 78 osteogenesis imperfecta (OI) patients to investigate bone metabolism in vivo and relate marker concentrations to phenotype and in vitro collagen I defects, as shown by sodium dodecyl sulphate ‐polyacrylamide gel electrophoresis (SDS‐PAGE). PICP and PINP were generally low, and the serum levels were lower in all children and adults with mild OI and a quantitative collagen defect than in patients with severe OI and a qualitative collagen I defect. ICTP, Pyr and Dpyr were generally normal or reduced, but elevated in severely affected adults with a qualitative collagen I defect. The in vivo findings correlated with in vitro results of collagen I SDS‐PAGE. Bone turnover is reduced in OI children and mildly affected OI adults, whereas bone resorption is elevated in severely affected adults. These findings may prove helpful for diagnosis and decision‐making regarding therapy in OI.
Bone mineral status in children with phenylketonuria under treatment
Authors: Al‐Qadreh A , Schulpis KH , Athanasopoulou H , Mengreli C , Skarpalezou A , Voskaki I
Published: August 2010

Bone mineral status was assessed in 48 children with phenylketonuria (PKU) (20 M, 28 F, aged 2.5‐17 y). Bone density was measured in the distal third of the right forearm using single photon absorptiometry and was expressed as ±SD with respect to age‐ and gender‐matched controls. Serum calcium (Ca), magnesium (Mg), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone and 25‐hydroxyvitamin D were measured in morning samples. The ratios of urinary Ca/creatinine (UCa/ UCr), UP/UCr, UMg/UCr and hydroxyproline (OH‐Pr)/UCr were calculated in urine samples collected over a period of 3h. Patients' data were compared with those of 50 controls (22M, 28F, aged 3‐15y). The data showed severe osteopenia (below ‐2 SD) in 22/48 patients. Bone loss was more prominent in patients over 8y old. Bone density correlated significantly with age (r=– 0:56, p < 0.001) and with Phe (r=– 0:49, p < 0.007) but did not correlate with the other biochemical indices studied. Comparing PKU children with controls, significantly higher serum calcium and magnesium (p= 0:04, p< 0.001, respectively), lower ALP (p= 0:01), higher UCa/UCr ratio (p < 0.001), lower UP/UCr (p < 0.001) and lower UOH‐Pr/UCr (p < 0.001) were found. Dietary compliance was poor in patients over the age of 8y, as only 3/22 of ≤ 8y had mean serum phenylalanine >10mgdl−1, in contrast to 21/26 in the older group. It is clear from the data that osteopenia is commonly found in PKU patients from early life. The biochemical data indicate a metabolic state of low bone turnover in PKU patients. In conclusion, a better, more restricted diet may correct osteopenia.
Methaemoglobin formation after the use of EMLA cream in term neonates
Authors: Brisman M , Larsson LE , Andreasson SE , Ljung BML , Otterbom I
Published: August 2010

EMLA cream 5% (a eutectic mixture of lidocaine and prilocaine) is a topical anaesthetic that has become widely used to minimize pain from venipuncture in children. It has not, however, been recommended in neonates owing to the potential risk of methaemoglobinaemia induced by prilocaine. The aim of this study was to establish the safety of 1 g EMLA cream 5% used on intact skin in term neonates. Forty‐seven neonates, aged 0‐3 months, with a postconceptual age of ≥37 weeks and a body weight between 2.8 and 5.7 kg, were included in a double‐blind, randomized, placebo‐controlled study. After baseline observations a total dose of 1.0 g EMLA/placebo was applied to two sites (0.5 g site−1) for 60‐70 min. Venous methaemoglobin (metHb) levels were determined in each patient at baseline and at three randomly assigned times, 0.5‐18h after application. Following application of the cream, the mean metHb levels were 1.17% (range 0.50‐2.53) in the EMLA group and 0.96% (range 0.50‐1.53) in the placebo group. The metHb concentrations were significantly higher in the EMLA group in the intervals from 3.5 to 13 h after application than in the placebo group, but were well below potentially harmful levels. Based on these results, a 1‐h application of 1 g EMLA cream is safe when used on the intact skin of term neonates below 3 months of age.
Gastrostomy button causing perforation of the posterior gastric wall
Authors: Arnbjörnsson E , Jakobsson I , Larsson LT , Mikaelsson C
Published: August 2010

A gastrostomy button complication, not previously reported, is described. The button, with an inflatable balloon, was used for nutrition. The patient had had a gastrostomy for 4.5 y, with the same type of gastrostomy button for the previous 2 y and the same device for 1 y. The tip of the button caused a perforation of the posterior stomach wall, leading to death.
Impact of zinc supplementation on persistent diarrhoea in malnourished Bangladeshi children
Authors: Roy SK , Tomkins AM , Mahalanabis D , Akramuzzaman SM , Haider R , Behrens RH , Fuchs G
Published: August 2010

To evaluate the impact of zinc supplementation on the clinical recovery and body weight of children with persistent diarrhoea, a randomized, double‐blind, controlled trial was conducted in 190 children with persistent diarrhoea aged between 3 and 24 months. Children were randomly allocated to receive either zinc (20 mg d−1) syrup with multivitamin (2 × RDA) or multivitamin alone in three divided daily doses for 2 weeks. The trial was conducted in a diarrhoeal disease hospital in Dhaka, Bangladesh. Duration until clinical recovery (d), impact on body weight and serum zinc level after 2 weeks of zinc supplementation were recorded. The duration of illness was significantly reduced (33%) with zinc supplementation among children who were underweight (≤70% wt/age, p= 0:03). Supplemented male children also had a significant reduction (27%) in duration for recovery compared with unsupplemented children (p= 0:05). From baseline to convalescence, zinc‐supplemented children maintained their serum zinc concentration (13.4 vs 13.6/μmol l−1), whereas unsupplemented children had a decrease in serum zinc after the 2 weeks of diarrhoea (13.6 vs 11.8 μmol l−1, p < 0:03). The mean body weight of the children in the supplemented group was maintained (5.72 vs 5.70 kg, p= 0:62) during hospitalization, unlike that of the control group, in which there was a reduction in body weight (5.75 vs 5.67 kg, p= 0:05). Five children in the unsupplemented group and one child in the zinc‐supplemented group died during the 2 weeks of supplementation (p= 0:06). Zinc supplementation in persistent diarrhoea significantly reduced the length of the recovery period in malnourished children and prevented a fall in body weight and serum zinc concentration, indicating that zinc is a beneficial therapeutic strategy in this high‐risk childhood illness.
Diurnal changes in plasma amino acids in maple syrup urine disease
Authors: Schwahn B , Wendel U , Schadewaldt P , Falkenberg N , Mönch E
Published: August 2010

Protein turnover is a cyclic process with a net loss of protein in the (catabolic) fasted state and a net gain in the (anabolic) fed state. In maple syrup urine disease (MSUD) the early block of degradation of the branched‐chain amino acids (BCAA) brings about the opportunity for evaluation of the diurnal variation in net protein anabolism and catabolism by studying cyclic changes in the plasma concentrations of BCAA. The alterations in plasma BCAA in a 3‐y‐old boy with classical MSUD were studied in the fed and fasted state over a period of 19 months. For each amino acid a total of 34 data pairs was calculated. The plasma concentrations of the BCAA leucine, valine and isoleucine were constantly higher in the fasted than in the fed state. Plasma concentrations of alloisoleucine, being a non‐protein amino acid, did not participate in cyclic changes. In contrast, the essential amino acid pair tyrosine and phenylalanine increased after meals. The fasting concentration of alanine increased after feeding, while glycine did not change significantly. Healthy subjects show a decrease in all amino acids in the fasted (mild catabolic) state and an increase in the fed state. These findings in MSUD suggest a net decrease in non‐BCAA as result of a greater rate of amino acid oxidation rate than of protein breakdown and a net entry of BCAA into plasma in the fasted state due to the specific metabolic block. Such changes in amino acid plasma pools have to be taken into account during monitoring of treatment and especially when in vivo leucine oxidation is assessed.
Long‐term growth of children with congenital heart disease: a retrospective study
Authors: Schuurmans FM , Pulles‐Heintzberger CFM , Gerver WJM , Kester ADM , Forget P‐Ph
Published: August 2010

This retrospective study evaluates long‐term growth of children with congenital heart disease (CHD) and looks for possible relationships between postsurgical catch‐up growth and both severity of preoperative growth failure and operation age. Growth data of 123 children with isolated CHD were available. Mean z‐scores and 95% confidence intervals for weight, height and weight‐for‐height were plotted for age‐periods as well as for pre‐ and postoperative periods. Growth of children with a large VSD or a Tetralogy of Fallot was most abnormal and improved but did not normalize after operation. Catch‐up growth for length was strongly correlated with severity of the preoperative growth failure (r= 0.92, p < 0.05) but not with operation age (r= 0.20, NS). We conclude that surgical correction results in catch‐up growth for most individuals. Catchup growth is positively correlated with the severity of the initial growth disturbance and not with age at the moment of surgical correction.
Ochratoxin A: a naturally occurring mycotoxin found in human milk samples from Norway
Authors: Skaug MA , Størmer FC , Saugstad OD
Published: August 2010

The presence of ochratoxin A (OA) in human milk samples from different regions in Norway was investigated to determine the level of infant exposure to OA from human milk. OA was found in 38 (33%) of 115 human milk samples (range 10–130 ng l−1). It was found that 2–26% of the samples contained more than 40 ng l−1 OA, which will cause a daily intake of OA from human milk exceeding the suggested tolerable dose of 5ng kg−1 body weight. Significant regional differences were found.
Lethal neonatal Menkes' disease with severe vasculopathy and fractures
Authors: Jankov RP , Boerkoel CF , Hellmann J , Sirkin WL , Tumer Z , Horn N , Feigenbaum A
Published: August 2010

A male neonate presented with an acute onset of severe intra‐abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New insights into the pathogenesis of Menkes' disease provided by DNA mutation analysis and difficulties in neonatal diagnosis are discussed. Menkes' disease should be considered in male infants with pathological fractures and other signs of connective tissue disease, even in the neonatal period.
Urinary growth hormone excretion in post‐menarcheal adolescent girls with type 1 diabetes
Authors: Åman J , Kroon M , Jones I , Segnestam K , Snellman K
Published: August 2010

The aim of the present study was to compare measurements of urinary growth hormone (GH), serum insulinlike growth factor I (IGF‐I) and IGF binding protein 3 (IGFBP3) between two groups of post‐menarcheal girls, 13–18 y of age, one comprising 64 type 1 diabetic patients and the other 64 healthy girls matched for age and stage of puberty. GH was determined on two occasions in nocturnal urine samples by using a modification of an immunoradiometric method for serum. Significantly higher urinary GH concentrations but lower IGF‐I and IGFBP3 levels were found in diabetic girls than in controls (p < 0:001). A significant correlation was found between urinary GH concentrations and the daily dose of insulin (U kg −1) (r= 0:426, p= 0:003). Urinary GH concentrations were also significantly related to HbA1c (r= 0:380, p= 0:003). In conclusion, disturbances of the GH‐IGF‐I axis may be evaluated by the use of non‐invasive urinary GH measurements, which is a simple alternative to frequent sampling of serum GH. Increased GH secretion seems to be related to a great need for insulin and poor metabolic control. More knowledge about underlying causal factors in the disturbed GH‐IGF‐I axis is required.
Outcome of children with respiratory symptoms without objective evidence of asthma: a two‐year, prospective, follow‐up study
Authors: Remes ST , Korppi M , Remes K
Published: August 2010

This study evaluated the outcome of 33 children with asthma‐like symptoms without objective evidence of asthma, and the role of certain factors in predicting the development of clinical asthma in these children. Data on symptom histories, lung functions (flow‐volume spirometry, free running test and methacholine inhalation challenge test) and atopic sensitization (skin prick tests and markers of eosinophilic inflammation) were collected twice with an interval of 2y, and the diagnoses were re‐evaluated after the follow‐up period. Based on the results, it was concluded that one‐third of the children with prolonged or recurrent lower airway symptoms, such as cough or wheeze, either have mild asthma or will develop asthma in the near future. Children who had a significant response [≥10% fall in forced expiratory volume in 1 s (FEV1)] in the free running test formed a risk group for active asthma, whereas other baseline characteristics seemed not to predict the outcome.
Thyroid hormone concentrations in preterm infants born to pre‐eclamptic women with placental insufficiency
Authors: Fetter WPF , Waals‐Van de Wal CMJA , Van Eyck J , Samson G , Bongers‐Schokking JJ
Published: August 2010

The aim of this study was to compare thyroid function in preterm infants born to women with placental insufficiency (n= 15) and those born to women without placental insufficiency (n= 13). Gestational ages ranged between 28 and 33 weeks. Concentrations of free thyroxine (FT4), thyrotropin (TSH), triiodothyronine (T3) and reverse T3 (rT3) were measured by radioimmmunoassays in cord blood and on d 1,3,5,7,14 and 21. Infants born to the women with placental insufficiency had significantly lower mean FT4 (p = 0:001), TSH (p= 0:002) and rT3 values (p= 0:025) in cord blood, and higher rT3 values on d 5 (p = 0:019) and d 7 (p= 0:025). The following conclusions were reached: (i) preterm infants born to preeclamptic women with placental insufficiency have intact hypothalamic‐pituitary‐thyroid axes; (ii) compared to preterm infants born to healthy women, preterm infants born to pre‐eclamptic women with placental insufficiency have lower FT4 and TSH concentrations before birth and (iii) elevated rT3 concentrations after birth, suggesting a temporarily impaired hepatic type 1 deiodination process.
Injuries to pre‐school children in a home setting: patterns and related products
Authors: Laflamme L , Eilert‐Petersson E
Published: August 2010

The current study was undertaken to examine the most typical circumstances of and products related to injuries to pre‐school children at home, and to establish the extent to which any injury patterns found were age‐ or gender‐related. Data were taken from a community‐based injury register built up over a 1‐y period in a Swedish county. Injury incidence by gender and age was calculated, and typical injury patterns were identified through analysis of seven characteristics of the injuries, employing multivariate techniques. Injury incidence was higher for children aged 1 and 2y, and for boys at all pre‐school ages. Five typical injury patterns were identified, and their relation to gender and age highlighted. It is concluded that a focus on passive protection is likely to offer the most effective means of prevention. This could be achieved by safer home designs, building structures, items of equipment and products.
Idiopathic thrombocytopenic purpura (ITP): a historical odyssey
Authors: Freedman J , Blanchette M
Published: August 2010

Purpura has been recognized since ancient times and its clinical syndromes were refined by important observations in the sixteenth, seventeenth and eighteenth centuries. It required the development of adequate microscopes in the nineteenth century, however, to recognize the platelet, leading to the recognition of the thrombocytopenic component of ITP. The twentieth century brought recognition of the pathophysiology of the disorder and further defined the clinical states and treatments for ITP. The latter half of the twentieth century has focussed on the autoimmune components of ITP, initially on the humoral immune aspects and more recently on dysregulation of cellular immunity.
Mechanisms for induction of autoimmunity in humans
Authors: Möller E
Published: August 2010

The triggering or immunogenic stimulus for human autoimmune diseases is unknown. It is not even known whether the stimulus is endogenous, i.e. truly “self” or exogenous, “non‐self”. Many autoimmune diseases are human lymphocyte antigen (HLA)‐associated and demonstrate linkage to the HLA chromosome in family investigations. For most of these diseases, evidence is strong that the association is directly dependent on specific HLA class I or II molecules rather than on other genes located in the HLA region. Since HLA polymorphic HLA molecules have so far only been shown to have two distinct functions, both of which are immunological, a HLA association supports the notion that a particular disease is autoimmune. Furthermore, an association to a specific HLA allele implies that the immunogenic stimulus for autoimmunity would be one specific HLA‐binding peptide and that, at least initially, autoimmunity is dependent on the reactivity of one or a limited number of potentially autoaggressive T cell clones. These findings are encouraging and form the basis for future preventive measures. One current theory is that autoimmune disease is precipitated by an environmental agent, such as a viral infection. Several different mechanisms to explain how a viral infection could induce autoimmune disease in humans are described and one specific example is presented for a virus‐induced autoimmune disease in humans. The question of whether ITP could also be dependent on such a mechanism is briefly discussed.
Analysis of transmembrane signalling and T cell defects associated with idiopathic thrombocytopenic purpura (ITP)
Authors: Lazarus AH , Joy T , Crow AR
Published: August 2010

Adult chronic idiopathic thrombocytopenic purpura (ITP) is an autoimmune disease characterized by production of autoreactive antibodies to platelet antigens. It is now becoming clear that autoantibody production, in general, is regulated by T helper (Th) cells. Several recent studies have examined potential defects in T cell function in this disease and have demonstrated that patients with ITP possess abnormal lymphocyte activation and Th1/Th2‐mediated cytokine production. Although the underlying cause(s) of aberrant T cell function in this disease are not known, studies from other models of autoimmune disease indicate that defects in T cell transmembrane signalling can be causally linked to abnormal T cell activation and cytokine production. This review will present some of the major T cell signalling pathways and discuss how altered T cell signalling may be linked to autoimmunity with an emphasis on ITP. Recent preliminary findings of a potential defect in the signal transduction apparatus in lymphocytes from three patients with ITP will also be presented.
Measurement of platelet antibodies: where do we stand?
Authors: Winiarski J
Published: August 2010

The immune pathogenesis of idiopathic thrombocytopenic purpura (ITP) is well established; however, the diagnostic criteria do not require identification of platelet autoantibodies. The abundance of methods devised for the measurement of platelet antibodies over the years provides evidence of the so‐far futile search for a reliable diagnostic assay. The latest generation of platelet antigen‐specific assays has widened the knowledge of autoimmune mechanisms in thrombocytopenia, but they still lack sufficient sensitivity to be a useful tool in the routine evaluation of thrombocytopenic patients.
Mechanisms in childhood idiopathic thrombocytopenic purpura (ITP)
Authors: Winiarski J
Published: August 2010

The concepts of the pathological mechanisms in childhood idiopathic thrombocytopenic purpura (ITP) have, to a great extent, been based on clinical experience and on data generated in adults. Studies performed in children have demonstrated that platelet antigen‐specific autoantibodies are present in chronic ITP and, to a lesser extent, in acute ITP. It is, however, likely that the mechanisms initiating the production of autoantibodies are different in the two entities. In acute ITP, production of autoantibodies and immune complexes is probably linked to a transient antiviral immune response. Chronic ITP in children is an autoimmune process which eventually is reversible in many cases. The initiating factors, as in other autoimmune disorders, are yet to be elucidated.
Cytokines in idiopathic thrombocytopenic purpura (ITP)
Authors: Andersson J
Published: August 2010

Most research in idiopathic thrombocytopenic purpura (ITP) has focused on characterization of the autoantibodies directed against platelet antigens resulting in enhanced platelet elimination by macrophages. This report summarizes the current knowledge of cytokine pattern found in individuals with ITP. Serum assessment has demonstrated increased levels of interleukin (IL)‐2 and interferon‐gamma (IFN‐7), while IL‐4 was significantly decreased. In addition, thrombopoietin (TPO) has been found in normal levels while IL‐11 has been reported to be elevated. These data indicate that ITP is associated with a Th1 type of T helper cytokine response, while that of type Th2 is downregulated. Initially, megakaryocytes are found at normal levels in bone‐marrow aspirates, explaining the unchanged production of TPO. The increase in IL‐11 may be reflected by the increased number of platelets being produced per megakaryocyte. However, there is little information on these events in immunocompetent sites such as bone marrow, spleen and lymph nodes.
Current management issues of childhood and adult immune thrombocytopenic purpura (ITP)
Authors: Kühne T , Elinder G , Blanchette VS , Garvey B
Published: August 2010

The management of acute and chronic immune thrombocytopenic purpura (ITP) of children differs in many aspects from that of adults. Current paediatric and adult treatment options are discussed in this review in the light of the recently published practice guidelines for the diagnosis and treatment of ITP issued by a panel of paediatric and adult haematologists on behalf of the American Society of Hematology. Uncontrolled rather than controlled randomized studies often represent the basis for treatment decisions. Important issues in improving the management of patients with ITP include the identification of research priorities resulting in controlled clinical trials with well‐defined study endpoints, the logistics and coordination of research activities and their presentation at international meetings.
Defining quality of care for children and adolescents with type 1 diabetes
Authors: Daneman D , Frank M
Published: August 2010

Recent years have seen an increase in awareness of the need to improve the quality of diabetes care for children and adolescents, as detailed in the Declaration of Kos, for example. This paper addresses some quality‐of‐care principles and evaluates specific examples of current management. The meaning of the terms quality of care, evidence‐based medicine and cost‐containment are examined, and the features central to the development and evaluation of quality health care (structure, process and outcome) are explored. The practical aspects of diabetes care are reviewed in terms of the causes and prevention of early mortality, ambulatory vs inpatient care, the value of measuring HbA1c, other metabolic control criteria (including the effect of patient selection, cultural, socioeconomic and biological differences) and clinical practice guidelines. It is concluded that a multidisciplinary team provides the optimum context for diabetes management and that care must be family centred and multidimensional (i.e. not focusing on HbA1c levels alone). The task of improving diabetes care is massive and operates at all levels (individual, family, healthcare providers, national and international bodies), but offers significant improvements in quality and cost‐effectiveness.
Individualized insulin therapy in children and adolescents with type 1 diabetes
Authors: Becker D
Published: August 2010

The most important point about individualized therapy is to make it flexible to fit the needs of the patient. These needs are determined by age, pubertal status, treatment schedule, exercise, intelligence, education and socioeconomic status. In addition, major emphasis should be placed on the dietary needs, attitude and ability of the patient. Aspects of insulin regimens that can be adjusted include number of injections per day, timing of injections and the type of insulin used. Several factors that affect insulin action should also be considered, including the presence of insulin antibodies, the amount of subcutaneous fat, injection technique and muscular activity. Insulin pump therapy in childhood and adolescence may also be considered in certain cases. Controversial areas in childhood diabetes therapy include the number of daily injections, whether porcine insulin has any advantages, use of multiple doses of intermediate‐ and long‐acting insulin, mixing regular insulin and short‐acting insulin analogues, strategies to prevent hypoglycaemia and the importance of choice of injection sites in childhood.
Diabetic nephropathy in children and adolescents: a critical review with particular reference to angiotensin‐converting enzyme inhibitors
Authors: Chiarelli F , Casani A , Verrotti A , Morgese G , Pinelli L
Published: August 2010

Clinical diabetic nephropathy is a well‐recognized cause of increased morbidity and mortality in patients with type 1 diabetes. The finding that microalbuminuria predicts progression to overt nephropathy has allowed early diagnosis and preventive interventions. Several studies have demonstrated that treatment with angiotensin‐converting enzyme (ACE) inhibitors slows down the rate of decline of the glomerular filtration rate in type 1 diabetes patients with established proteinuria. The renoprotective properties of the ACE inhibitor captopril extend beyond its antihypertensive effects. ACE inhibitors represent the most appropriate class of antihypertensive drugs for treating type 1 diabetes patients because of their efficacy and safety. When microalbuminuria is detected and confirmed in a diabetic child or adolescent, and if it persists despite 6‐12 months of improved metabolic control, treatment with ACE inhibitors should be started, even if the child is normotensive. Careful follow‐up of renal function is essential.
Practical aspects of managing diabetes in adolescents
Authors: Mortensen HB
Published: August 2010

In 1988 and 1990 screening for HbA1c and albumin excretion rate in diabetic children was carried out throughout Denmark. Each study included approximately 1000 diabetic patients. Raised levels of HbA1c (9.5‐10%) were found despite 60% of these young people receivin6g three or more insulin injections daily. The prevalence of persistent microalbuminuria was 4.3%, which was associated only with age and diastolic blood pressure. A recent international survey of HbA 1c and insulin treatment involving 2873 children found an average HbA1c of 8.6%± 1.7%, which varied significantly (p < 0. 0001) between centres. Severe hypoglycaemia was related to a young age (0‐8 y) and low HbA 1c. There were no significant differences in glycaemic control between adolescents treated with two, three, four or more insulin injections daily. Adolescents on four or more injections received significantly (p < 0:001) more insulin. Girls receiving four or more injections had a significantly (p < 0:01) higher body mass index than girls on twice‐daily insulin. Preadolescent children on premixed insulin showed similar HbA 1c levels to those on a combination of short‐ and long‐acting insulin, whereas in adolescents, significantly better HbA 1c values were achieved with individual combinations. Despite intensive diabetes management, particularly in adolescence, near normoglycaemia is achieved only in a few individuals.