bluuebunny/crossref_metadata_2025_split huggingface dataset:
Early detection of podiatric anomalies in children with Down syndrome
Authors: Concolino Daniela , Pasquzzi Antonietta , Capalbo Giuseppe , Sinopoli Saverio , Strisciuglio Pietro 
Published: August 2010

Abstract Aims: To verify the importance of podiatric evaluation in patients with Down syndrome for the early diagnosis and treatment of minor orthopaedic problems. Methods: Case‐control study of 50 children affected by Down syndrome (aged 4–10 y) without major orthopaedic malformations compared to 100 healthy children. A complete podiatric examination was performed on all patients and controls. Results: Children with Down syndrome showed several orthopaedic anomalies including bony deformity of the forefoot (90%), flat foot (60%), isolated calcaneal valgus (24%), knee valgus (22%) and pronated flat foot (16%). These abnormalities were responsible for postural alterations as confirmed by baropodometric examination. Conclusion: The data demonstrated a greater incidence of minor orthopaedic alterations and suggest the necessity of regular podiatric examinations in the follow‐up of this syndrome.
Hospitalized Swedish children with hand and forearm injuries: A retrospective review
Authors: Ljungberg Elinor , Dahlin Lars B. , Granath Fredrik , Blomqvist Paul 
Published: August 2010

Abstract Aim: To analyse incidences and find risk groups in children hospitalized with hand injuries in a national retrospective study. Methods: All children with a primary hand or forearm injury admitted to Swedish hospitals during 1987–2001 were retrieved from the Swedish Hospital Discharge Register and analysed as to incidence and characteristics. Results: Among 9855 children included, the median age was 7.0 y and two‐thirds were boys. The incidence increased in both younger (0–6 y) and older (7–14 y) children. Wounds and fractures almost doubled, while muscle/tendon injuries decreased. In younger children, wounds and burns were the most frequent diagnoses. In older children, fractures and muscle/tendon injuries were common. Sharp objects caused most of the injuries. University hospitals treated almost half of the children. Conclusion: The number of children with hand injuries admitted to hospitals in Sweden increased annually. Analyses of causes behind the increase are important to counter this trend.
Thiamine‐responsive megaloblastic anaemia syndrome: Long‐term follow‐up and mutation analysis of seven families
Authors: Ricketts Christopher J. , Minton Jayne A. , Samuel Jacob , Ariyawansa Indra , Wales Jerry K. , Lo Ivan F. , Barrett Timothy G. 
Published: August 2010

Abstract Aim: Thiamine‐responsive megaloblastic anaemia syndrome (TRMA) is the association of diabetes mellitus, anaemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. This is a unique monogenic form of vitamin‐dependent diabetes for which there is limited long‐term data. We aimed to study genotype–phenotype relationships and long‐term follow‐up in our cohort. Methods: We have studied 13 patients from seven families and have follow‐up data for a median of 9 y (2–30 y). Results: All patients originated from Kashmir or Punjab, and presented with non‐immune, insulin‐deficient diabetes mellitus, sensorineural deafness and a variable anaemia in the first 5 y of life, the anaemia progressing to megaloblastic and sideroblastic changes in the bone marrow. The anaemia and diabetes mellitus responded to oral thiamine hydrochloride 25 mg/d, but during puberty thiamine supplements became ineffective, and almost all patients require insulin therapy and regular blood transfusions in adulthood. All patients are homozygous for mutations in the SLC19A2 gene. We have identified a novel missense mutation (T158R) that was excluded in 100 control alleles. Conclusion: Diabetes in this syndrome is due to an insulin insufficiency that initially responds to thiamine supplements; however, most patients become fully insulin dependent after puberty. A mutation screening strategy is feasible and likely to identify mutations in almost all cases.
Hemoglobin A1c in obese children and adolescents who participated in a weight management program
Authors: Zador Ivan , Meyer Laurie J. , Scheets Dawn R. , Wittstruck Thorne M. , Timmler Tammi , Switaj Dolores M. 
Published: August 2010

Abstract Aim: The objective of this study was to compare hemoglobin A1c values in non‐diabetic obese children and adolescents before enrollment and after completion of a 12‐wk weight management program. Methods: Seventeen children and adolescents, age 10.8±2.5 y (mean±1 SD), joined a multidisciplinary weight management program. Hemoglobin A1c and body mass index were measured at the start and at the completion of the program in each participant. Results: Body mass index at the start of the program was 34.3±6.4 kg/m2. Body mass index at the end of the program was 33±6.6 kg/m2 (p<0.05). Hemoglobin A1c at the beginning of the program was 5.3±0.3%. Hemoglobin A1c at the completion of the program was 5±0.2% (p<0.05). Conclusion: In this group of overweight children, hemoglobin A1c decreased significantly after participating in a multi‐disciplinary weight loss program. These findings further point to the beneficial effect of lifestyle changes on the metabolic status of obese children.
Gallbladder cancer in a patient with Miller‐Dieker syndrome
Authors: Ueda Shizuyo , Kubota Masaru , Kuroki Shigekazu , Wada Michihiko 
Published: August 2010

AbstractWe report the case of a male patient with Miller‐Dieker syndrome (MDS) and gallbladder cancer. Chromosome analysis by fluorescence in situ hybridization revealed a deletion in the 17p13.3 region, an area thought to contain tumour suppressor genes, including the hypermethylated in cancer 1 gene. Considering the rarity of gallbladder cancer in children, we propose that MDS as the genetic background of this patient may have played a role in the occurrence of gallbladder cancer. Conclusion: Our present report indicates that the emergence of cancers should be taken into consideration during the long‐term follow‐up of patients with MDS.
Postnatal rupture of an antenatally diagnosed choledochal cyst: First case report
Authors: Siddiqui Mohammad M. F. , Grier David , Cusick Eleri 
Published: August 2010

AbstractA 7‐mo‐old girl with an asymptomatic antenatally diagnosed choledochal cyst was referred to the regional paediatric surgical centre for advice on management. Following further radiological investigation and discussion with the supra‐regional centre, a date for elective surgery was arranged. However, in the interim, she was admitted as an emergency following rupture of the cyst. She made an uneventful recovery following urgent laparotomy. Conclusion: We recommend prompt paediatric surgical referral following antenatal diagnosis of a presumed choledochal cyst. Delay in surgery may permit expansion and rupture of the cyst, even after a period of asymptomatic stability.
The true cause of pyloric stenosis is hyperacidity
Authors: Rogers Ian Munro 
Published: August 2010

AbstractPyloric stenosis (PS) has no known cause. A testable theory of cause is proposed, based on the inheritance of a parietal cell mass (PCM) at the upper end of the normal range. It is proposed that, until 3–4 wk of age, the obligatory high fasting gastrins are at maximal levels and not able to be diminished by increasing antral acidity. Hence, rising acidity is not reduced by a lowered gastrin during this time, and very high acidity occurs. Conclusion: Persisting duodenal hyperacidity is created by an inherited high PCM and loss of gastrin control. These two factors produce pyloric stenosis through work hypertrophy from repeated pyloric contraction in response to hyperacidity.
Does inadequate maternal iron or DHA status have a negative impact on an infant's functional outcomes?
Authors: Rioux France M. , Lindmark Gunilla , Hernell Olle 
Published: August 2010

AbstractMarginal intake of iron and ω‐3 long‐chain fatty acids (DHA) is prevalent among pregnant women. It is not clear to what extent poor iron or DHA status during pregnancy impacts on an infant's functional outcomes. A few studies suggest that inadequate maternal iron or DHA status may be associated with suboptimal functional outcomes in infants. In addition, there is a lack of prospective studies using randomized, double‐blind design or experimental studies with appropriate animal models. Although both nutrients are involved in early brain development and their metabolism is interrelated, no study has examined the interaction between iron and ω‐3 fatty acids during pregnancy. Conclusion: Long‐term studies on large cohorts of pregnant women and their infants are needed to determine whether inadequate iron or DHA status during pregnancy is detrimental to infant neurodevelopment.
Body mass index references for Turkish children
Authors: Bundak Ruveyde , Furman Andrzej , Gunoz Hulya , Darendeliler Feyza , Bas Firdevs , Neyzi Olcay 
Published: August 2010

Abstract Aim: To construct the body mass index reference curves for Turkish children aged 6 to 18 y, and to determine the prevalence of overweight and obesity. Subjects and methods: Height and weight measurements of healthy schoolchildren (1100 boys, 1019 girls) were obtained biannually. Body mass index was calculated from 11 648 height and weight measurements. Centile curves were constructed using the LMS method. Results: The smoothed percentile values and curves for body mass index in Turkish children show that there is a constant increase in body mass index values towards adulthood, especially during the pubertal years, in both sexes. The prevalence of overweight is 25% and obesity 4% in boys at age 18 y. The percentage of overweight and obesity in girls at age 14 was 15% and 1%, respectively. The sample size was too small to come to any conclusion regarding these rates at 18 y of age. Conclusion: This study presents data and curves for body mass index values in healthy Turkish children aged 6 to 18 y. The values are in compliance with those of Western countries.
Oligonephropathy, developmental programming and nutritional management of low‐gestation newborns
Authors: Yeung Melinda Y. 
Published: August 2010

AbstractimageIntrauterine growth retardation is associated with oligonephropathy and the risk of hypertension and renal disease in adulthood. Animal study data show that nephron density is directly related to protein nutrition status during nephrogenesis. Among infants born at low gestation, postnatal growth retardation and major deficits in energy and protein intake have been reported. Conclusion: Since nephrogenesis occurs mainly in late gestation, increasing protein intake during nephrogenesis could minimize the risk of long‐term morbidities associated with oligonephropathy.
Impact of repeated lifestyle counselling in an atherosclerosis prevention trial on parental smoking and children's exposure to tobacco smoke
Authors: Kallio Katariina , Jokinen Eero , Hämäläinen Mauri , Kaitosaari Tuuli , Volanen Iina , Viikari Jorma , Rönnemaa Tapani , Simell Olli 
Published: August 2010

Abstract Aim: To determine whether repeated infancy‐onset lifestyle counselling alters parental smoking and children's exposure to tobacco smoke. Methods: In 1990, 1062 healthy infants were recruited to a randomized, ongoing atherosclerosis prevention trial (STRIP). Intervention families received at least twice a year individualized nutrition and lifestyle counselling. By 1999, 652 8‐y‐old children continued participation. Exposure to tobacco smoke was evaluated using serum cotinine concentration. Parents' smoking was also assessed using questionnaires and interviews. Results: Parents' smoking decreased during the study similarly in the intervention and control groups. Of the 8‐y‐old children, 46% had detectable serum cotinine concentration, suggesting exposure to tobacco smoke during the past few days. All children were non‐smokers. Serum cotinine concentrations did not differ between the intervention and control children. Children's cotinine values were highest in the families where either father or both parents were smokers. Conclusion: Participation in the atherosclerosis prevention trial slightly decreased smoking among the intervention and control parents. However, counselling led to no differences in parental smoking between the two groups, or in exposure of the intervention and control children to tobacco smoke. This study suggests that more detailed and targeted intervention is required to achieve a significant effect on children's tobacco smoke exposure.
Vascular endothelial growth factor in children with nephrotic syndrome treated with cyclosporine A
Authors: Wasilewska Anna , Zoch‐Zwierz Walentyna , Tenderenda Edyta 
Published: August 2010

Abstract Aim: To assess the effect of cyclosporine A (CyA) on the level of vascular endothelial growth factor (VEGF) in the plasma and urine of nephrotic syndrome children. Methods: The study material consisted of 15 children (F 6, M 9; group I) who were subjected to the following examinations: A) at the time of proteinuria relapse, before treatment with CyA, B) after 3 mo, C) after 6 mo, and D) after 12 mo of CyA administration with prednisone and convertase inhibitor. The control group (II) contained 20 healthy children. The immunoenzymatic ELISA method (R&D Quantikine) was used to determine plasma and urinary VEGF levels, while the immunofluorescence method was applied to assess CyA concentration in the plasma. The statistical program Statistica 6.0 was used for statistical analysis of the results. Results: In the present study, plasma VEGF level in examination A was higher than in the control group (p<0.01). After proteinuria regression (B), it did not differ from the level observed in healthy children (p>0.05). After 6 and 12 mo of CyA administration, VEGF concentration increased and was higher than in the control group (p<0.05). In all the examinations, urinary excretion of VEGF was higher than in the control group, increasing proportionally with the duration of treatment and plasma CyA level. A positive correlation was observed between plasma and urinary VEGF levels and between VEGF and CyA concentrations in the plasma. Conclusion: Long‐term CyA treatment of nephrotic syndrome children leads to an increase in plasma and urinary VEGF.
Multiple‐step polyclonal versus one‐step monoclonal enzyme immunoassay in the detection of Helicobacter pylori antigen in the stools of children
Authors: Hauser Bruno , Wybo Inge , Tshibuabua Gerard , Pierard Dennis , Vandenplas Yvan 
Published: August 2010

Abstract Objective: Evaluation of a polyclonal and a monoclonal Helicobacter pylori stool antigen test (HpSAT) for the detection of Helicobacter pylori (HP) infection in children. Methods: 43 children underwent a 13C‐urea breath test (13C UBT) and a HpSAT for the detection of HP. A child was considered HP positive if the 13C UBT was positive. Two HpSATs were tested: the “Premier Platinum HpSA” test (PP HpSAT) (polyclonal enzyme immunoassay) and the “ImmunoCard STAT! HpSA” test (ICS HpSAT) (one‐step immunochromatographic assay). Results: The mean age of the children was 8.9 y (range 3.5–17.5 y). Of the 43 children, 18 (41.9%) were HP positive and 25 (58.1%) were HP negative. The PP HpSAT showed a sensitivity of 94.4% and a specificity of 100.0%. With the ICS HpSAT, equivocal results occurred in 5/42 (11.9%) of the tests due to a problem with the visual interpretation of the change in colour of the test‐line. The ICS HpSAT had a sensitivity of 100.0% and a specificity of 76.0% when the test was considered positive in case of any change of colour of the test‐line, which is the correct practice according to the manufacturer. The ICS HpSAT had a sensitivity of 100.0% and a specificity of 96.0% when the test was considered positive only in case of a “significant change of colour” of the test‐line. Conclusion: Compared to the 13C UBT, the PP HpSAT shows a comparably good sensitivity and specificity, the ICS HpSAT has a comparably good sensitivity but lower specificity due to a high percentage of equivocal results when the test is used according to the manufacturer's instructions, and the ICS HpSAT has a comparably good sensitivity and specificity when a weakly positive test is considered negative for the diagnosis of HP infection in children. The ICS HpSAT is easy to perform with results available within 10 min, and is therefore of particular interest in ambulatory medicine.
Clinical predictors of self‐limited urinalysis abnormality in childhood Henoch‐Schönlein purpura nephritis
Authors: Hung Shuo‐Hsun , Yang Yao‐Hsu , Lee Chien‐Chang , Wang Li‐Chieh , Lin Yu‐Tsan , Chiang Bor‐Luen 
Published: August 2010

Abstract Background and aim: The majority of patients (85–95%) with Henoch‐Schönlein purpura nephritis (HSPN) suffer from a prolonged course of urinalysis abnormality. We sought to identify favourable prognostic factors predicting a self‐limited urinalysis abnormality within 1 y. Methods: Fifty‐eight HSPN patients admitted to the University Hospital between 1990 and 2003 were retrospectively analysed. Detailed information on clinical and laboratory manifestations on admission and sequential follow‐up clinics were recorded. The χ2 or Fisher's exact test were used for univariate analysis, and multiple logistic regression was used for multivariate analysis. Results: The study cohort included 31 boys and 27 girls, with a mean age of onset of 8.0±4.3 y and a median follow‐up duration of 5.9 y (range 1 to 25). Of 58 patients, 39 (67.3%) had a self‐limited urinalysis abnormality within 1 y. On multivariate analysis, onset age less than 9 (p=0.038), low‐grade proteinuria (p=0.044) and interval between purpura onset and renal manifestations less than 2 wk (p=0.005) predicted self‐resolved urinalysis abnormality within 1 y. With two or more predictive factors, the sensitivity for short‐term course was 84.6%, the specificity was 73.7%, and the positive predictive value was 84.8%. Conclusion: A small number of variables were important for detecting a favourable short‐term course of urinalysis abnormality.
Ten years’ experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
Authors: Erikson Anders , Forsberg Håkan , Nilsson Magnus , Åström Marianne , Månsson Jan‐Eric 
Published: August 2010

Abstract Aim: To study the long‐term effects of enzyme replacement therapy on the neurological signs of chronic neuronopathic Gaucher disease and to evaluate some biochemical parameters for monitoring the treatment. Methods: Eight patients from the Norrbottnian cohort were followed during 10 y of treatment. They were followed with regular clinical observations, biochemical tests and psychometric testing. Results: After the start of treatment, their general well‐being improved and was stable during the follow‐up. In three of the patients there were some indications of slow neurological deterioration. The mean results of psychometric testing did not decrease. Glucosylceramide and chitotriosidase levels were useful in monitoring the treatment. The chemokine CCL18 also seems to be a useful parameter for future monitoring. Conclusions: Enzyme replacement therapy seems to slow down further neurological and mental deterioration in mild chronic neuronopathic (type 3) Gaucher disease.
Polymorphisms in four candidate genes in young patients with essential hypertension
Authors: Marčun Varda Nataša , Zagradišnik Boris , Stangler Herodež Špela , Kokalj Vokač Nadja , Gregorič Alojz 
Published: August 2010

Abstract Aim: To determine whether four potential genetic factors (polymorphisms in genes for alpha‐adducin, beta‐adducin, the G‐protein beta‐3 subunit and nitric oxide synthase) are important for the development of essential hypertension (EH) in Slovenian children and young adults with EH. Methods: Both a nuclear families approach and case‐control study have been performed. Genotyping of common polymorphisms in these genes using polymerase chain reaction was carried out in 104 nuclear families (an affected child, both parents) and in 200 control patients. Results: Using the transmission disequilibrium test, no statistically significant differences were found between the frequencies of transmitted and non‐transmitted alleles in nuclear families for all four investigated polymorphisms. In addition, the distributions of genotypes and alleles for the four polymorphisms did not differ significantly between our children and 200 healthy control patients. The allele frequencies of all polymorphisms were concordant with those observed in some other Caucasian populations. Conclusion: We found no association between the investigated gene variants and EH, so we conclude that they do not confer a significantly increased risk of the development of EH in the Slovenian population of hypertensive children.
Tap‐water enema for children with myelomeningocele and neurogenic bowel dysfunction
Authors: Mattsson Sven , Gladh Gunilla 
Published: August 2010

Abstract Aim: To evaluate the outcome of transrectal irrigation (TRI) using clean tap water without salt in children with myelomeningocele and neurogenic bowel problems. Methods: 40 children (21 boys and 19 girls; aged 10 mo to 11 y) with myelomeningocele and neurogenic bowel dysfunction were treated with TRI given by a stoma cone irrigation set daily or every second day. A questionnaire on the effects on faecal incontinence, constipation and self‐management was completed by the parents, 4 mo–8 y (median 1.5 y) after start. Effects on rectal volume, anal sphincter pressure and plasma sodium were evaluated before and after the start of irrigation. Results: At follow‐up, 35 children remained on TRI, four had received appendicostomy, while one defecated normally. For all children but five (35/40; 85%) the procedure worked satisfactorily, but a majority found the procedure very time consuming and only one child was able to perform it independently. All children were free of constipation; most (35/40) were also anal continent. Rectal volume and anal sphincter pressure improved, while plasma sodium values remained within the normal range. Conclusion: Transrectal irrigation with tap water is a safe method to resolve constipation and faecal incontinence in children with myelomeningocele and neurogenic bowel dysfunction, but it does not help children to independence at the toilet.
Prophylaxis with palivizumab against respiratory syncytial virus infection in infants with congenital heart disease—who should receive it?
Authors: Sunnegårdh Jan 
Published: August 2010

AbstractRespiratory syncytial virus (RSV) infection is the leading cause of infection of the lower respiratory tract in infants, and is also the leading cause of hospitalization during the first year of life. In this issue of Acta Paediatrica, Meberg and Bru report on the incidence and estimated costs of hospitalizations for RSV infections in children with congenital heart disease from a specified region in Norway. Conclusion: Incidence figures of hospitalization due to RSV infection in this high‐risk group of infants were similar to the results from several other reports. The cost‐benefit analysis of prophylaxis against RSV infection in infants with congenital heart disease, using the monoclonal antibody palivizumab, should also take into account potential savings attributable to such prophylaxis.
Detecting heart defects in newborn infants – innocent murmurs mixed with silent dangers
Authors: Norman Mikael 
Published: August 2010

AbstractDetection of severe heart defects without unnecessary delay is a primary task for providers of infant care. Screening is challenged by the fact that a normal physical examination after birth does not exclude severe defects. Shorter hospital stay for newborn infants and a reduced number of examinations may further hamper a successful mission. Reassuringly, most critical heart defects are reported to be identified early. Conclusion: Increased awareness of the limitations of screening and continued monitoring of detection rates, as well as studies on how they can be improved, are warranted.