bluuebunny/crossref_metadata_2025_split huggingface dataset:
Influence of severity of congenital hypothyroidism and adequacy of treatment on school achievement in young adolescents: a population‐based cohort study
Authors: Léger J , Larroque B , Norton J ,   AFDPHE
Published: August 2010

Aim: To evaluate whether precociously treated subjects with congenital hypothyroidism (CH) are at risk of poor school performance in early adolescence, and to investigate which factors affect their school achievement. Methods: All children treated early for congenital hypothyroidism and born in France during the first 7y (1979–1985) of the national screening program for congenital hypothyroidism were selected for the study. School performance during childhood, assessed according to age at entry into the first grade of secondary school, was evaluated as normal (usually 11 y of age) vs late entry (≥12 y). The national register of children with congenital hypothyroidism enabled a comparison to be made with data from the national population for the same school years. Results: School achievement was similar among the 682 patients with CH and in the national population. After an adjustment for the sex and socioprofessional category of the parents, the severity of CH as assessed by the type (athyreosis, the most severe vs other types), the initial low serum T4 levels (≤53 nmol/L vs >53 nmol/L), and the profound bone maturation delay (absence vs presence of the two knee epiphyseal ossification centres at diagnosis), initially low L‐thyroxine dosage (below vs ≥7 μg/kg/day), the absence of near normalization of thyroid hormone levels after 15 d of treatment and poor adequacy of treatment throughout childhood were associated with an increased risk of school delay. School achievement was unaffected by the age at start of treatment (mean age = 22.8 ± 6.8 d). In a multivariate logistic regression analysis, recurrent episodes of insufficiently suppressed TSH levels (≥15mUi/L at least four times during follow‐up from the age of 6 mo onwards) were the most important variable associated with school delay. Conclusion: Careful follow‐up of the adequacy of treatment is required throughout childhood, to reduce the risk of school delay.
Endocrinological study on growth retardation in Rett syndrome
Authors: Huppke P , Roth C , Christen HJ , Brockmann K , Hanefeld F 
Published: August 2010

Aim: To determine whether primary or secondary growth hormone (GH) deficiency has a causative role in linear growth retardation, a key feature in Rett syndrome (RTT). Methods: In 38 patients with Rett syndrome a variable set of investigations was performed including assays of growth and thyroid hormones, gonadotropins, gonadal and adrenal steroids and determination of bone age. Not all measurements were attainable from all patients. In three patients the 24‐h growth hormone secretion profile was evaluated using the pulsar method. Results: The bone age determined in 24 patients was found to be normal in 8, retarded in 9 and accelerated in 7 patients. Insulin‐like growth factor (IGF)‐1 was low in 8 out of 23 patients. IGF‐binding protein (IGFBP)‐3 and insulin and arginine‐stimulated growth hormone secretion were both normal, indicating normal GH secretion in the majority of patients. The 24‐h GH secretion profile in the first patient showed a normal day/night rhythm and a normal increase in nocturnal GH secretion. The second patient's overall GH secretion was normal but there was no day/night rhythm. The third patient showed borderline low GH secretion. Normal age‐appropriate plasma values were found for the thyroid hormones (T4, TSH), TSH‐night rhythm, oestradiol, prolactin and cortisol (08.00, 18.00). Conclusion: Our study provides no evidence that growth retardation in RTT is caused by growth hormone deficiency. A disturbed hypothalamic control cannot be excluded but it is unlikely that this is the major cause of growth retardation in RTT.
Bone density in the Asian thalassaemic population: a cross‐sectional review
Authors: Bielinski BK , Darbyshire P , Mathers L , Boivin CM , Shaw NJ 
Published: August 2010

As survival improves in β‐thalassaemia, osteoporosis is emerging as a significant problem. This study examines bone mineral density (BMD) of thalassaemic patients of Asian origin (age range 9.5–24 y) to evaluate the extent of problems in this group and identify potential risk factors. Eleven patients were scanned using dual‐energy X‐ray absorptiometry. BMD z‐scores and the bone mineral apparent density (BMAD) z‐scores were calculated, to correct for short stature. All but three patients had lumbar spine BMD and BMAD z‐scores below the mean. Three patients had BMAD z‐scores more than 2.5 standard deviations below the mean. A negative correlation between age and BMAD was seen, as was an association between endocrine disorders and decreased bone density. Conclusion: The data confirm significant reductions in BMD in the Asian thalassaemic population, even after correcting for body size. Further research is needed to identify risk factors and means of prevention.
Cerebral palsy in southern Sweden II. Gross motor function and disabilities
Authors: Nordmark E , Hägglund G , Lagergren J 
Published: August 2010

The gross motor function and disabilities in children with cerebral palsy in southern Sweden were investigated and related to clinical features. The study covered the birth year period 1990‐1993 and comprised 167 children, 145 of them born in Sweden and 22 born abroad. The clinical features and gross motor function were analysed at a mean age of 6.8 y. Clinical features were obtained from a continuing healthcare follow‐up programme. Gross motor function was classified according to the Gross Motor Function Classification System (GMFCS). Walking independently was possible for 86% of the hemiplegic, 63% of the pure ataxic, 61% of the diplegic and 21% of the dyskinetic children. None of the tetraplegic children was able to walk. The classification of gross motor function revealed that 59% of the children were categorized into levels I and II (mildly disabled), 14% into level III (moderately disabled) and 27% into levels IV and V (severely disabled). Children born abroad were more severely disabled. Conclusion: The standardized age‐related classification system GMFCS enabled a specific description of gross motor function in relation to clinical features. Significant differences between GMFCS levels and subgroups of diagnosis, aetiology, intellectual capacity, epilepsy and visual impairment were found.
Antibiotic prescription in Italian children: a population‐based study in Friuli Venezia Giulia, north‐east Italy
Authors: Borgnolo G , Simon G , Francescutti C , Lattuada L , Zanier L 
Published: August 2010

Comprehensive information on prescription patterns of antibiotics in Italy is scarce. This study describes the use of systemic antibiotics in children according to age and sex in Friuli Venezia Giulia, north‐east Italy. A pharmacological prescription database was used to identify individual prescriptions provided to all 0–15‐y‐old resident children (n= 140630) during 1998. Overall, 124 383 prescriptions were identified. The prescription rate was highest in the 3‐6 y olds, with 1491 antibiotic prescriptions per 1000 children per year. Antibiotics were prescribed for 52% of infants, 57.2% of toddlers and 62% of preschool children. Twenty‐nine percent of the prescriptions were for cephalosporins, 27% for macrolides and 24% for broad‐spectrum penicillins. Prescription rates were much higher than in other countries such as Denmark, with more antibiotic courses prescribed for more children at all ages. Prescriptions from general practitioners and family paediatricians often included second‐line antibiotics (e.g. cephalosporins and macrolides) or antibiotics that have not been approved for community‐acquired paediatric infections (e.g. quinolones). Conclusion: The development of regional guidelines for antibiotic use in children should be urgently recommended.
Wiskott‐Aldrich syndrome, vasculitis and critical aortic dilatation
Authors: Johnston SL , Unsworth DJ , Dwight JF , Kennedy CTC 
Published: August 2010

Wiskott‐Aldrich syndrome is a rare X‐linked disorder, comprising the triad eczema, thrombocytopenia and progressive immunodeficiency. The prognosis has been poor in the past but is now improving with therapeutic options including splenectomy and bone marrow transplantation. We report the case of a 21‐year‐old male with an established diagnosis of Wiskott‐Aldrich syndrome, who developed aortic root dilatation with severe aortic regurgitation requiring aortic valve and root replacement. Histology confirmed a destructive, full‐thickness, chronic aortitis. Conclusion. As treatment and prognosis improve, large vessel vasculitis may become an increasingly recognized late complication of this syndrome, which now extends into adult practice.
Epstein‐Barr virus‐associated Hodgkin's disease in a patient with Wiskott‐Aldrich syndrome
Authors: Sasahara Y , Fujie H , Kumaki S , Ohashi Y , Minegishi M , Tsuchiya S 
Published: August 2010

Wiskott‐Aldrich syndrome is a primary immunodeficiency syndrome in which the majority of malignant complications are non‐Hodgkin's lymphoma. We report here a Wiskott‐Aldrich syndrome patient who developed Epstein‐Barr virus‐positive Hodgkin's disease in the bilateral pulmonary hilar lymph nodes. The treatment was successful as the patient achieved a complete response and event‐free survival for more than 4 y. Conclusion: This case is very rare, but highly suggestive of the immune‐mediated mechanisms in the pathogenesis of Epstein‐Barr virus‐associated Hodgkin's disease in an immunodeficiency patient.
The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuric Child
Authors: BICKEL HORST , GERHARD JOHN , HICKMANS EVELYN M. 
Published: August 2010

SummaryPhenylketonuria is a not uncommon cause of mental deficiency (there are probably 1600 cases in Great Britain alone). On the supposition that the high level of phenylalanine or its breakdown products in the blood and cerebrospinal fluid might be responsible for the mental retardation in this disorder we have treated a two year‐old child with a diet low in phenylalanine. The introduction of this diet was associated with an appreciable improvement in the patient's mental status and a fall in the level of phenylalanine in the blood and urine. When phenylalanine was again given in fairly large amounts there was an immediate and dramatic deterioration in the child's mental and biochemical condition. A similar phenylalanine intake produced no clinical reaction in a control child.The main source of aminoacids in the diet was an acid casein hydrolysate which was specially treated to remove phenylalanine. The aim of the phenylalanine‐poor diet was to keep the pbenylalanine blood level as near the normal range as possible. The preparation of such a diet presents little difficulty if a phenylalanine‐free casein hydrolysate is available. Its value in the treatment of other children is at present being investigated; it seems reasonable to assume that patients in the first two years of life will benefit most.
Thyroid dysfunction in children with Down's syndrome
Authors: Tüysüz B , Beker DB 
Published: August 2010

Thyroid function tests were carried out on 320 children with Down's syndrome aged between 5 d and 10y. Thyroid function was normal in 230 patients (71.9%) and abnormal in 90 (28.1%). Six patients (1.8%) had primary congenital hypothyroidism, one patient had acquired hypothyroidism and two had transient hyperthyrotropinaemia of the newborn. Sixteen of the remaining 81 patients (25.3%) had compensated hypothyroidism with increased thyroid‐stimulating hormone (TSH) levels (11‐20mU 1−1). Their T4 levels were found to be either normal or close to the lower limit of normal. These cases were started on thyroxine therapy. Sixty‐five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6‐10 mU 1−1). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case. Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU 1−1 may benefit from treatment with low‐dose thyroxine.
Whole blood ionized magnesium in neonatal acidosis and preterm infants: a prospective consecutive study
Authors: Olofsson K , Matthiesen G , Rudnicki M 
Published: August 2010

The mineral magnesium is a crucial enzymatic cofactor in the cellular bioenergetic process and alternations in magnesium metabolism may be associated with neurological impairment in newborn infants. Therefore, ionized magnesium (IMg) was measured in 14 newborn infants with acidosis [umbilical arterial cord pH 7.00 ± 0.06, Apgar score 8.3 ± 1.6 after 5 min, gestational age (GA) 276 ± 16d] and 15 premature infants (umbilical arterial cord pH 7.31 ± 0.07, GA 236 ± 12 d). Nineteen healthy mature infants served as controls. Arterial umbilical cord samples were taken immediately after delivery and capillary blood samples were taken 2, 6, 12 and 24 h after delivery by heel stick. IMg was measured by NOVA 8. The results showed an increased umbilical cord blood IMg in infants with acidosis compared with both premature and normal infants (0.58 ± 0.08 mmol 1−1 vs 0.51 ± 0.03 mmol 1−1 and 0.49 ± 0.03 mmol 1−1; p < 0.0001). In infants with acidosis IMg declined significantly 2 h after delivery to 0.49 ± 0.05 mmol 1−1 (p < 0.0001) and did not show any further significant changes during the first day of life. In premature infants and controls IMg levels were constant during the observation period. Conclusion: These findings suggest that elevated IMg is associated with neonatal acidosis.
Linguistic and motor abilities of low‐birthweight children as assessed by parents and teachers at 8 years of age
Authors: Yliherva A , Olsén P , Mäki‐Torkko E , Koiranen M , Järvelin M‐R 
Published: August 2010

Linguistic and motor abilities among low‐birthweight 8‐y‐old children in the northern Finland Birth Cohort for 1985‐1986 (n= 9322) were studied using parental and teacher evaluations. The parents of 8370 (90%) and teachers of 8525 (92%) children returned a mailed questionnaire concerning the children's speech, language, learning and motor abilities. Low‐birthweight (LBW, <2500 g) children (n= 279) appeared to have experienced more difficulties than normal‐birth‐weight (NBW, ≥2500g) children (n= 8091). The parents evaluated the LBW boys to be the poorest in linguistic and motor skills compared with the other boys or any of the groups of girls. They are therefore presumably at risk of having problems at school, which was confirmed by the teachers' reports. There was also a clear relationship between speech/linguistic and motor disabilities. Conclusion: Multivariate logistic regression analyses showed that the lower birthweight and some sociodemographic factors, for example the mother's age being between 20 and 24 y, having more than four children in the family, a reconstructed family, as well as hearing impairment and male gender were the most important determinants of poor speech and language abilities at 8 y of age, with and without adjustment for neonatal risk factors (asphyxia, convulsions, respiratory distress syndrome, bronchopulmonary dysplasia, patent ductus arteriosus). Smallness for gestational age was also a risk factor for poor speech and language skills. Preterm birth was associated with poor skills only after adjustment for the neonatal risk factor. The parental and teacher evaluations were concordant concerning the LBW children's outcome.
Comparison of parenting stress between Malaysian mothers of four‐year‐old very low birthweight and normal birthweight children
Authors: Ong LC , Chandran V , Boo NY 
Published: August 2010

A study was carried out to compare parenting stress between 116 mothers of very low birthweight (VLBW) children and 96 mothers of normal birthweight (NBW) children at 4 y of age, using the Parenting Stress Index (PSI). Multiple regression analysis was used to determine factors associated with child‐domain stress (CDS) and parent‐domain stress (PDS). There was a significantly higher proportion (39.7%) of mothers of VLBW children with high CDS scores >90th percentile than mothers of NBW children (20.8%). No significant differences were observed for PDS scores. Lower intelligence quotient (IQ) scores and adverse child behaviour, as evidenced by higher Child Behavior Checklist (CBCL) scores, were significantly associated with higher CDS scores (p < 0.001). Factors associated with higher PDS scores were higher CBCL scores (p < 0.001), mothers who were the primary caregivers (p < 0.001), male sex (p= 0.018) and lower level of maternal education (p= 0.048). These factors remained statistically significant even when physically and cognitively impaired children were excluded from the analysis. Conclusion: Specific child characteristics and the social environment appear to have a greater impact on parenting stress than the biological risk of VLBW birth per se.
Pneumocystis carinii pneumonitis in haemophagocytic lymphohistiocytosis
Authors: Pasic S , Jankovic I , Rosic R , Ognjanovic M 
Published: August 2010

We report on a 10‐y‐old boy who developed Pneumocystis carinii pneumonitis (PCP) as the dominant symptom at the onset of haemophagocytic lymphohistiocytosis (HLH). PCP is a common infection in patients with combined primary immunodeficiencies or acquired immunodeficiency syndrome but it has rarely been observed at the onset of HLH. Typically, HLH presents as a febrile syndrome associated with cytopenia and hepatosplenomegaly. Repeated bone marrow aspirates, spleen or lymph node biopsies are sometimes required to reveal haemophagocytosis. Because of the significant immunosuppression during treatment of HLH, prophylaxis of PCP with co‐trimoxazole is recommended. However, de‐arranged immune response in HLH renders the patients susceptible to opportunistic infections, even before the introduction of immunosuppressants. Conclusion: We suggest that in patients with unclear respiratory symptoms, it is worth considering a differential diagnosis of HLH.
Effect of intravenous immunoglobulin on inhibiting peripheral blood lymphocyte apoptosis in acute Kawasaki disease
Authors: Yi QJ , Li CR , Yang XQ 
Published: August 2010

This study aimed to explore the therapeutic mechanism of intravenous immunoglobulin (IVIG) for Kawasaki disease (KD) Peripheral blood lymphocytes (PBLs) obtained from 26 children with KD and 20 age‐matched healthy children were stimulated with anti‐CD3 monoclonal antibody (mAb), and the percentage of apoptotic cells and DNA fragmentation were assayed at 0, 12, 24, 48 and 72 h in vitro. The patients were divided into two groups: one treated with aspirin combined with IVIG (n= 16) and one treated with aspirin alone (n= 10). PBLs were stimulated by phytohaemag‐glutinin to evaluate the lymphocyte proliferative response. Compared with normal controls, the apoptotic cell percentage and the DNA fragmentation were markedly decreased (p < 0.001) and delayed in PBLs from KD patients. After IVIG treatment, the decreased percentage of apoptotic cell and delayed DNA fragmentation were restored to the state of the normal controls, accompanied by a fast clinical remission compared with the aspirin‐alone group. The lymphocyte proliferative response was also decreased 3–5 d after IVIG therapy (p < 0.001). Conclusion: The results suggest that decreased PBL apoptosis may be involved in the pathogenesis of KD. The therapeutic mechanism of IVIG in KD may be partially due to the reversal of the inhibited lymphocyte apoptosis, and may have implications for other autoimmune diseases with inefficient lymphocyte apoptosis.
Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain
Authors: Olafsdottir E , Ellertsen B , Berstad A , Fluge G 
Published: August 2010

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7–15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7–13 y) were also investigated, non‐invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)‐scale for most of the patients and 15 patients had scores above or close to the clinical cut‐off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L‐scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.
Organic abnormalities in recurrent abdominal pain in children
Authors: Størdal K , Nygaard EA , Bentsen B 
Published: August 2010

Using an investigation protocol, the aim of this study was to determine the frequency of organic abnormalities in children with recurrent abdominal pain, as new diagnostic approaches may reveal a higher prevalence of organic disease in this group than has been found in most studies. Included in the study were 44 children (mean age 8.3 y; 2–15) with more than three bouts of abdominal pain severe enough to affect the daily activities of the child and lasting more than 3 mo. The investigation covered a detailed medical story, a physical examination, blood, urine and stool samples. The somatic investigation was completed by abdominal X‐ray and ultrasound, lactose‐breath‐hydrogen test and 24‐h pH monitoring in the lower oesophagus. A Child Behaviour Checklist was completed to assess psychosocial aspects of the illness. The blood, urine and stool samples were normal, and abdominal ultrasound did not give any results related to the symptoms. Constipation was diagnosed in 7 patients (16%); 9 patients (21%) had gastro‐oesophageal reflux and oesophagitis was found in another 3 children. One child had nodular antral gastritis with colonization by Helicobacter pylori, and three children had pathological lactose‐breath‐hydrogen tests. Twenty‐four children (55%) did not have any signs of organic disease. The total score for the CBCL was in the normal range in 89%. Conclusion: Our observations indicate a higher proportion of organic abnormalities in recurrent abdominal pain than has been found in most previously reported studies, though a multicausal approach seems important.