bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prebiotic oligosaccharides reduce stool viscosity and accelerate gastrointestinal transport in preterm infants
Authors: Mihatsch Walter A. , Hoegel Josep , Pohlandt Frank 
Published: August 2010

Abstract Aim: To investigate whether a mixture of prebiotic non‐digestible oligosaccharides (GosFos; referring to galacto‐ and fructo‐oligosaccharides) would improve feeding tolerance in preterm infants on full enteral formula feeding. We hypothesized that GosFos would: (1) reduce stool viscosity and (2) accelerate gastrointestinal transport. Methods: In a placebo‐controlled double‐blind trial 20 preterm infants on full enteral nutrition (gestational age 27 (24–31) weeks, postnatal age 42 (11–84) days, and weight at study entry 1570 (1080–2300) g were randomly allocated to have their feedings supplemented with either GosFos (1 g/100 mL) or placebo for 14 days. Stool viscosity was measured by high‐pressure capillary rheometry. Gastrointestinal transport time was assessed as the time from feeding carmine red to its appearance in the diaper. The hypotheses were tested as a priori ordered hypotheses. Data are shown as median (range). Results: Birth weight, gestational age, postnatal age, and weight at study entry did not differ between groups. GosFos significantly reduced both stool viscosity, as measured by extrusion force (32 (2–67) versus 158 (24–314) N), and gastrointestinal transit time (12 (4–33) versus 26 (5–52) h). No adverse effects were observed. Conclusion: Formula supplementation with GosFos reduced stool viscosity and accelerated gastrointestinal transport. Further trials are required to investigate whether GosFos facilitates enteral feeding advancement and early enteral nutrition thereby eventually reducing the incidence of catheter‐related nosocomial infections and improving long‐term outcome.
Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening
Authors: Lee Young‐Mock , Baek Seoung‐Yon , Hong Kim Ji , Soo Kim Dong , Seung Lee Jae , Kim Pyung‐Kil 
Published: August 2010

Abstract Background: School urinary mass screening tests are performed to make early diagnosis and provide proper treatment for chronic renal diseases. However, very few systemic analyses or studies have been reported regarding final diagnosis made on children with abnormal urinary screening results. Aim: To study the cases of renal biopsy in children detected in urinary screening. Methods: We retrospectively analysed 461 cases of renal biopsy performed on children referred to us with abnormal school urinary mass screening results who satisfied indications for renal biopsy. Results: Pathologically abnormal findings were observed in 285 (61.8%) patients. Thin glomerular basement membrane disease was detected in 127 (27.5%) cases and IgA nephropathy in 121 (26.2%) cases. Among those 461 children, microscopic haematuria was observed in 289 (62.7%) patients, proteinuria in nine (2.0%), and both in 163 (35.4%). In addition, a statistically higher rate of pathological abnormalities on renal biopsy was noted in the group with microscopic haematuria combined with proteinuria and also in cases with more severe haematuria. Conclusion: School urinary mass screening has greatly contributed to diagnosing chronic renal diseases. Continuous medical observation is required when abnormal urinalysis is observed, and a more aggressive medical approach such as renal biopsy should also be performed if necessary.
Effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia
Authors: Sugiura Tokio , Goto Kenji , Ito Kouichi , Ban Kyoko , Okada Shoji , Moriyama Akihiko , Togari Hajime 
Published: August 2010

Abstract Introduction: Hyperzincaemia and hypercalprotectinaemia with systemic inflammation, recurrent infections, hepatosplenomegaly, arthritis, anemia, cutaneous inflammation, and failure to thrive is an extremely rare disease and no therapy is reported. Aim: To evaluated the effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia in terms of serum cytokine level changes before and after treatment. Methods: A 10‐year‐old girl was admitted suffering from pyoderma gangrenosum, hepatosplenomegaly, anemia that was unresponsive to iron supplementation, persistent inflammation, arthritis, and increased serum zinc. The level of serum calprotectin was extremely high; therefore, we diagnosed hyperzincaemia and hypercalprotectinaemia and started cyclosporine A treatment. Twelve cytokines in serum were measured before and one year after treatment. Results: Cyclosporine A was very effective. Her skin lesion and joint pain were alleviated and quality of life was markedly improved. C‐reactive protein had decreased and anemia had improved. While zinc levels had fallen, calprotectin remained at an extremely high level. Of the cytokines examined, interleukin ‐6 serum levels had fallen and interleukin ‐8 showed a marked reduction after treatment. Conclusion: Cyclosporine A is effective for hyperzincaemia and hypercalprotectinaemia. Serum interleukin ‐8 may be useful in assessing the therapeutic effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia.
The anal position index: A simple method to define the normal position of the anus in neonate
Authors: Davari Heidar Ali , Hosseinpour Mehrdad 
Published: August 2010

Abstract Aim: The purpose of this study was to determine the normal position of anus using anal position index (API) and the modified measurement method and to emphasize the importance of ectopic anus. This cross‐sectional study was performed on 400 neonates equally, boys and girls who were all delivered at full term without any malformations. Anal position index, which is the ratio of anus‐fourchette distance in girls and anus‐scrotum distance in boys to the distance between coccyx and fourchette/scrotum, was calculated in all cases. To make correct measurements, transparent adhesive tape was used longitudinally on midperinum in a way that it covered the anus. Then fourchette/scrotum, anus center and the lower margin of coccyx were marked on it. Distances marked on each tape were then measured with the standard ruler. Mean±SD of API in girls was 0.45±0.08 (95% CI: 0.44–0.46) and in boys 0.54±0.07 (95% CI: 0.53–0.55). Mean±2 SD was considered as the normal range for an anus position. Six female and five male neonates who had abnormal APIs were investigated further. Conclusions: Our findings suggested a simple method for determination of normal position of anus in children, especially those who are referred for chronic constipation. API can never be considered as the sole indication for the surgical intervention.
Complementary feeding in the WHO Multicentre Growth Reference Study
Authors:   WHO MULTICENTRE GROWTH REFERENCE STUDY GROUP, de Onis Mercedes 
Published: August 2010

Abstract Aim: To describe complementary feeding practices in the Multicentre Growth Reference Study (MGRS) sample. Methods: Food frequency questionnaires and 24‐h dietary recalls were administered to describe child feeding throughout the first 2 y of life. This information was used to determine complementary feeding initiation, meal frequency and use of fortified foods. Descriptions of foods consumed and dietary diversity were derived from the 24‐h recalls. Compliance with the feeding recommendations of the MGRS was determined on the basis of the food frequency reports. Descriptive statistics provide a profile of the complementary feeding patterns among the compliant children. Results: Complementary feeding in the compliant group began at a mean age of 5.4 mo (range: 4.8 (Oman)–5.8 mo (Ghana)). Complementary food intake rose from 2 meals/d at 6 mo to 4–5 meals in the second year, in a reverse trend to breastfeeding frequency. Total intake from the two sources was 11 meals/d at 6–12 mo, dropping to 7 meals/d at 24 mo. Inter‐site differences in total meal frequency were mainly due to variations in breastfeeding frequency. Grains were the most commonly selected food group compared with other food groups that varied more by site due to cultural factors, for example, infrequent consumption of flesh foods in India. The use of fortified foods and nutrient supplements was also influenced by site‐variable practices. Dietary diversity varied minimally between compliance groups and sites. Conclusion: Complementary diets in the MGRS met global recommendations and were adequate to support physiological growth.
Reliability of anthropometric measurements in the WHO Multicentre Growth Reference Study
Authors:   WHO MULTICENTRE GROWTH REFERENCE STUDY GROUP, de Onis Mercedes 
Published: August 2010

Abstract Aim: To describe how reliability assessment data in the WHO Multicentre Growth Reference Study (MGRS) were collected and analysed, and to present the results thereof. Methods: There were two sources of anthropometric data (length, head and arm circumferences, triceps and subscapular skinfolds, and height) for these analyses. Data for constructing the WHO Child Growth Standards, collected in duplicate by observer pairs, were used to calculate inter‐observer technical error of measurement (TEM) and the coefficient of reliability. The second source was the anthropometry standardization sessions conducted throughout the data collection period with the aim of identifying and correcting measurement problems. An anthropometry expert visited each site annually to participate in standardization sessions and provide remedial training as required. Inter‐ and intra‐observer TEM, and average bias relative to the expert, were calculated for the standardization data. Results: TEM estimates for teams compared well with the anthropometry expert. Overall, average bias was within acceptable limits of deviation from the expert, with head circumference having both lowest bias and lowest TEM. Teams tended to underestimate length, height and arm circumference, and to overestimate skinfold measurements. This was likely due to difficulties associated with keeping children fully stretched out and still for length/height measurements and in manipulating soft tissues for the other measurements. Intra‐ and inter‐observer TEMs were comparable, and newborns, infants and older children were measured with equal reliability. The coefficient of reliability was above 95% for all measurements except skinfolds whose R coefficient was 75–93%. Conclusion: Reliability of the MGRS teams compared well with the study's anthropometry expert and published reliability statistics.
Assessment of sex differences and heterogeneity in motor milestone attainment among populations in the WHO Multicentre Growth Reference Study
Authors:   WHO MULTICENTRE GROWTH REFERENCE STUDY GROUP, de Onis Mercedes 
Published: August 2010

Abstract Aim: To assess the heterogeneity of gross motor milestone achievement ages between the sexes and among study sites participating in the WHO Multicentre Growth Reference Study (MGRS). Methods: Six gross motor milestones (sitting without support, hands‐and‐knees crawling, standing with assistance, walking with assistance, standing alone, and walking alone) were assessed longitudinally in five of the six MGRS sites, namely Ghana, India, Norway, Oman and the USA. Testing was started at 4 mo of age and performed monthly until 12 mo, and bimonthly thereafter until all milestones were achieved or the child reached 24 mo of age. Four approaches were used to assess heterogeneity of the ages of milestone achievement on the basis of sex or study site. Results: No significant, consistent differences in milestone achievement ages were detected between boys and girls, nor were any site–sex interactions noted. However, some differences among sites were observed. The contribution of inter‐site heterogeneity to the total variance was <5% for those milestones with the least heterogeneous ages of achievement (hands‐and‐knees crawling, standing alone, and walking alone) and nearly 15% for those with the most heterogeneous ages of achievement (sitting without support, standing with assistance, and walking with assistance).  Conclusion: Inter‐site differences, most likely due to culture‐specific care behaviours, reflect normal development among healthy populations across the wide range of cultures and environments included in the MGRS. These analyses support the appropriateness of pooling data from all sites and for both sexes for the purpose of developing an international standard for gross motor development.
Skewed X inactivation in healthy individuals and in different diseases
Authors: Helene Ørstavik Karen 
Published: August 2010

AbstractIn female mammalian cells, one of the two X chromosomes is inactivated in early embryonic life. Females are mosaics for two cell populations, one with the maternal and one with the paternal X as the active chromosome. Skewed X inactivation is arbitrarily defined, often as a pattern where 80% or more of the cells show a preferential inactivation of one X chromosome. Inactivation is presumed to be permanent for all descendants of a cell; however, after about 55 years of age, the frequency of skewed X inactivation in peripheral blood cells increases, probably through selection. Unfavourable skewing of X inactivation, where the X chromosome carrying a mutant allele is the predominantly active X, has been found in affected female carriers of several X‐linked disorders; however, for many X‐linked disorders, a consistent relationship between the pattern of X inactivation and clinical phenotype has been difficult to demonstrate. One reason for this may be that peripheral blood cells are not a representative or relevant tissue in many disorders. In some severe X‐linked disorders, post‐inactivation selection takes place against the X chromosome carrying the mutant allele, leading to a completely skewed X‐inactivation pattern. Skewed X inactivation has also been reported in young females with breast cancer, and may indicate an effect of X‐linked genes on the development of this condition. Conclusion: The process of X inactivation and the resultant degree of skewing is clearly important for the expression of genetic diseases. It is also important to consider, however, that under normal conditions the frequency of skewed X inactivation increases with age in peripheral blood cells. Analysis of the expression of a large proportion of the genes on the X chromosome has revealed that X‐chromosome inactivation is more heterogeneous than previously thought.
Disease manifestations and X inactivation in heterozygous females with Fabry disease
Authors: Maier Esther M. , Osterrieder Stephanie , Whybra Catharina , Ries Markus , Gal Andreas , Beck Michael , Roscher Adelbert A. , Muntau Ania C. 
Published: August 2010

Abstract Aim: Fabry disease is an X‐linked lysosomal storage disorder characterized by an accumulation of neutral glycosphingolipids in multiple organ systems caused by α‐galactosidase A deficiency due to mutations in the GLA gene. The majority of heterozygous females show the characteristic signs and symptoms of the disease, and some of them are severely affected. The current hypothesis for the occurrence of disease manifestations in females is skewed X inactivation favouring the mutant GLA allele. Method: We analyzed the patterns of X inactivation in the leukocytes of 28 biochemically and genetically characterized symptomatic Fabry disease heterozygotes and their correlation with clinical and biochemical disease expression. Results: X inactivation patterns in symptomatic females who are heterozygous for Fabry disease did not differ from those of female controls of the same age (p = 0.669). Thirteen (46%) of the 28 females with Fabry disease showed random X inactivation, ten (36%) moderate skewing, and five (18%) highly skewed X inactivation. Segregation analysis was performed in the families of six females who had highly or moderately skewed X inactivation. In four of these females, skewing favoured the wild‐type GLA allele and in the other two skewing favoured the mutant allele. Patterns of X inactivation or the extent of skewing were not related to the severity of clinical manifestations or to residual enzyme activity. Conclusion: In this study we provide evidence that heterozygous females with Fabry disease show random X inactivation. Our data do not support the hypothesis that the occurrence and severity of disease manifestations in the majority of Fabry heterozygotes are related to skewed X inactivation.
Increased carotid intima–media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease
Authors: Barbey Frédéric , Brakch Noureddine , Linhart Aleš , Jeanrenaud Xavier , Palecek Thomas , Bultas Jan , Burnier Michel , Hayoz Daniel 
Published: August 2010

AbstractAim:Fabry disease is considered primarily as a progressive small vessel disease, with ischaemic degenerative lesions involving the kidneys, brain and heart. Macrovascular involvement in male patients includes an accelerated wall hypertrophy of the radial artery and a thickening of the intima–media of the common carotid artery. The aim of this study is to evaluate the prevalence and severity of carotid artery atherosclerosis in hemizygous and heterozygous patients with Fabry disease, compared with a matched control population.Methods:The common carotid artery intima–media thickness (IMT) of 53 patients with Fabry disease (24 men, 29 women) was measured by high‐definition ultrasonography, and the presence or absence of atherosclerotic plaques reported. Results were compared with those of 120 age‐matched healthy individuals (83 men, 37 women).Results:The common carotid artery IMT was increased to the same extent in male and female patients with Fabry disease (706±211 µm and 749±395 µm, respectively) compared with that of the control population (614±113 µm). In the Fabry population, IMT did not correlate with either systolic blood pressure or with renal function (plasma creatinine). In the control population, only systolic blood pressure was positively and significantly correlated with IMT. Atherosclerotic plaques in the common carotid artery were not observed in any patient with Fabry disease, whereas 34% of the control population had carotid artery plaques, as evidenced by focal non‐homogeneous intima–media thickening greater than 1.2 mm.Conclusion:This study presents evidence of a major increase in common carotid artery IMT, both in hemizygous and heterozygous patients with Fabry disease, in the absence of focal atherosclerotic plaques. These results suggest that the conduit arteries may be protected from atherosclerosis in Fabry disease.
Fabry disease and vascular risk factors: future strategies for patient‐based studies and the knockout murine model
Authors: Moore David F. , Gelderman Monique P. , Fuhrmann Steven R. , Schiffmann Raphael , Brady Roscoe O. , Goldin Ehud 
Published: August 2010

AbstractFabry disease is secondary to deficiency of the lysosomal enzyme α‐galactosidase A, leading to altered glycosphingolipid metabolism and accumulation that is often associated with endothelial dysfunction. Current evidence suggests that there is impairment of the vascular nitric oxide pathway, with abnormalities evident in the cerebral circulation and in the dermal vasculature of patients with Fabry disease. Some of these findings have been confirmed in a mouse model of Fabry disease. The murine model, however, allows investigation of Fabry disease at a non‐clinical level and a near complete investigation of biological processes within an affected tissue. This is of particular utility in allowing gene expression analysis of clinically inaccessible tissues such as the aorta. Conclusion: Future developments in array technology for proteins and DNA single nucleotide polymorphism analysis, together with gene expression microarray analysis, may open a new chapter in our understanding of the biology of lysosomal storage disorders.
Gaucher disease: multiple lessons from a single gene disorder
Authors: Beutler Ernest 
Published: August 2010

AbstractGaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a β‐glucosidase, which results in the accumulation of the lipid glucocerebroside in macrophages throughout the body. Gaucher disease is most common in the Ashkenazi Jewish population, and three mutations of the gene encoding glucocerebrosidase (GBA) have been shown to be prevalent in this population (c.1226 A > C [N370S], 84GG and IVS2[+1]). In non‐Jewish patients, the most common mutation is c.1448 G > C (L444P). Until 15 years ago, treatment has been restricted to symptomatic interventions, such as splenectomy or hip replacement. However, there are now specific treatment options – enzyme replacement therapy and substrate reduction therapy. Future developments may include the use of chaperone therapy.Conclusion: The lessons that we have learned from Gaucher disease may well be applicable to the development of therapies for some of the other less common lysosomal storage diseases.
What makes the heart fail? New insights from defective genes
Authors: Olson Timothy M. 
Published: August 2010

AbstractDilated cardiomyopathy (DCM) is an idiopathic, genetically heterogeneous disorder characterized by heart failure and arrhythmia. Over the past decade, the molecular basis for DCM has been partially uncovered by discovery of mutation in genes encoding cystoskeletal, sarcomeric, nuclear membrane, and sarcoplasmic reticulum proteins. These findings have implicated pathogenic mechanisms whereby structural integrity, contractile force dynamics, and calcium regulation within the cardiac myocyte are perturbed. Recognition of dilated and hypertrophic cardiomyopathies as allelic disorders has provided the opportunity to identify genotype‐phenotype relationships and to gain new insight into pathways leading to cardiac failure and hypertrophy. Conclusion: Collectively, family‐based studies of DCM provide the rationale for clinical screening in first‐degree relatives, regardless of family history or age of the index case.
Cystinuria
Authors: Strologo Luca Dello , Rizzoni Gianfranco 
Published: August 2010

AbstractCystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of cystine and dibasic amino acids in obligate heterozygotes, may no longer be considered valid. A new classification is therefore needed: type A due to two mutations of SLC3A1 on chromosome 2, and type B due to two mutations of SLC7A9 on chromosome 19. The possibility of a third type, AB, with one mutation on each of the above‐mentioned genes, is left open, but is unlikely. Clinical data show that cystinuria is more severe in males than in females in terms of stone production and early age of onset. The two types of cystinuria (A and B) have a similar outcome. A mild renal failure is present in 17% of patients. Medical treatment of this disorder is possible, but requires a composite approach: urine dilution and alkalization, and the use of drugs to form chemical bonds with the sulphydryl domains of the cystine molecule, which lower the amount of free cystine in the urine. Conclusion: Following new achievements in the genetics of cystinuria, a new classification has been proposed. Cystinuria is more severe in males than in females, but only rarely leads to renal insufficiency. The two types of cystinuria have a similar clinical outcome. A combined medical treatment may be effective in reducing renal stone incidence.