bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical evaluation of biomarkers in Gaucher disease
Authors: Deegan PB , Cox TM 
Published: August 2010

AbstractNovel or candidate biomarkers require thorough evaluation to establish their utility in a clinical setting. This paper describes an evaluation of several established enzyme markers of Gaucher disease and a newly‐described chemokine, pulmonary and activation‐regulated chemokine (PARC). The ability of the biomarkers to rank patients with Gaucher disease in order of disease severity and organ bulk, and to reflect changes in key clinical parameters in response to enzyme replacement therapy were evaluated. PARC concentrations were found to be reliably correlated with visceral disease and with key clinical responses to enzyme replacement in an unbiased manner. Unlike chitotriosidase and serum angiotensin‐converting enzyme activity, genetic variation in serum PARC did not appear to influence its utility as a biomarker. Conclusion: For each new candidate biomarker of lysosomal storage diseases, a similar clinical evaluation will be required, though the approach will need to be modified according to the clinical features and natural history of each disorder.
Substrate reduction therapy for lysosomal storage diseases
Authors: Cox T M 
Published: August 2010

AbstractThe treatment of disordered lipoprotein metabolism with the statin class of drugs is one of the most striking successes in the field of applied medical science: here the use of selective inhibitors of the first committed step of cholesterol biosynthesis, in a complex and highly regulated pathway, leads to improved outcome from a common lipid storage disease that is a blight on whole populations – atherosclerosis. By the same token, substrate reduction is an emerging therapeutic strategy for the arcane field of the lysosomal storage diseases (LSDs). Reduced biosynthesis of glucosylceramide is postulated to allow correction of the imbalance between formation and breakdown of glycosphingolipids; the therapeutic effect of substrate reduction depends upon the presence of residual hydrolytic activity towards those accumulated glycosphingolipid substrates derived from glucosylceramide. First pioneered in the laboratory by Norman Radin, this approach has now been introduced into the clinic: based on the ability to inhibit uridine diphosphate glucosylceramide transferase, the semi‐selective iminosugar, N‐butyldeoxynojirimycin, is licensed for the treatment of type 1 Gaucher disease. Conclusion: Inhibition of substrate formation has wide application in the treatment of LSDs. Decreased glucosylceramide biosynthesis has therapeutic potential in glycosphingolipidoses other than Gaucher disease, and offers promise in several neurodegenerative storage disorders that are currently beyond the reach of other procedures. The results of ongoing clinical trials of miglustat in type 3 Gaucher disease, Niemann–Pick disease type C and GM2 gangliosidosis are eagerly awaited.
Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey
Authors: Schaefer E , Mehta A , Gal A 
Published: August 2010

Abstract Aim: Mutations of the gene (GLA) encoding α‐galactosidase A are implicated in Fabry disease, a progressive, X‐chromosomal inherited lysosomal storage disorder. FOS – the Fabry Outcome Survey – was established as a long‐term surveillance study to describe the natural course of Fabry disease and its response to enzyme replacement therapy in a large cohort of European patients. Clinical phenotype, age of onset and course of Fabry disease are very variable, even within the same family, which makes it difficult to define a genotype–phenotype relationship by analysing individual patients. The FOS database contains detailed medical information on a large cohort of patients and thus has the potential to provide important information to address this question. Methods: At the time of analysis, information on 545 patients belonging to 157 families from nine European countries had been entered into the FOS database. A GLA mutation has been reported in 365 individuals (65% and 68% of all males and females, respectively) in FOS. These data were used to analyse the relationship between genotype and phenotype in Fabry disease. Results: A highly significant positive correlation was found between the age at entry into FOS and the FOS Severity Index in male patients with GLA missense mutations (p<0.001) as well as in those carrying other types of mutations (p<0.001). A positive correlation was also found between the age at entry into FOS and the number of affected organs in male patients with missense mutations, irrespective of whether the change in the amino acid side chain predicted in the α‐galactosidase A protein was classified as a conservative or non‐conservative change. Conclusion: The data presented here suggest that there is a correlation between genotype and clinical severity.
Dietitians and exercise professionals in a childhood obesity treatment team
Authors: Nowicka Paulina 
Published: August 2010

AbstractThere has been a remarkable increase in the prevalence of childhood obesity in most countries in recent years, which indicates that modern lifestyle is the triggering factor for genetic susceptibility. This report focuses on the two main environmental factors, nutrition and physical activity, that could influence paediatric obesity development, and how health professionals can address these aspects in the management of childhood obesity in a multidisciplinary treatment team. First, the role of a nutrition expert in the multidisciplinary obesity team is discussed and then the importance of physical activity in the treatment of paediatric obesity. The part on nutrition highlights some interesting areas in this field, namely glycaemic index, high‐protein diet, fast foods, portion sizes and soft‐drink consumption. Dietary treatment in childhood obesity should be combined with changes in physical activity to promote long‐term weight loss. Research on the physical activity of children and adolescents indicates some significant changes over the last decades, which are also reviewed. Factors such as sports club participation and television viewing are discussed. The appropriate physical activity level and effective physical activity programmes are also presented. Physical activity can be promoted in childhood obesity treatment in many ways. Practical advice regarding physical activity programme and the role of exercise professionals in childhood obesity treatment team is given. Conclusion: For successful obesity management, the child should be assessed and treated by a multidisciplinary team, including a physician, dietitian, exercise expert, nurse and behavioural therapist.
Appetite regulation and energy balance
Authors: Erlanson‐Albertsson Charlotte 
Published: August 2010

AbstractThe decision to begin eating or to stop eating is a complex process. Hunger is primarily driven by hunger signals, like ghrelin and neuropeptide Y, originating from the gastrointestinal tract and from the hypothalamus. The hunger signals stimulate the seeking of food and the eating, being activating for the body and mind. Thirty minutes after the start of eating, satiety signals arise from the intestinal tract and, in between meals, from the adipose tissue and liver. Satiety signals are sedative and arrest the processing of food in the intestine, hence leading to termination of eating. One problem with overeating today is the ready access to palatable food, such as sucrose and fat. The palatable food works by weakening the satiety signals and activating the hunger signals. The reward system with endogenous opiates may also be activated. Conclusions: Food and drinks rich in sucrose and fat should be given in a restricted way to children, since there is no biological control feedback to regulate the intake of such products.
Family therapy treatment: Working with obese children and their families with small steps and realistic goals
Authors: Peterson Ywonne 
Published: August 2010

AbstractChildhood obesity treatment can be discussed from several points of view, and there are many forms of treatment. Solution‐focused brief therapy (SFBT) and systemic family therapy can be useful in a wide range of contexts and settings such as social care, education and healthcare. They can also be used wherever practitioners sometimes feel that they have very little impact on the patient and where the patient seems to be resistant to acknowledging his/her problem. Health professionals need to assist by starting to explain main goals and medical information in terms of a single, small, concrete and important goal, described as the beginning of a new behaviour, not as the end of something. This report focuses on some useful tools and methods taken from casework examples from multidisciplinary obesity team meetings with more than 300 families during a 3‐y project approximately between 2002 and 2003 at the Childhood Obesity Unit at University Hospital, Malmö. Other casework examples are taken from supervision and training professionals who are currently working with or are going to work with childhood obesity using a solution‐focused model. The main aim of this report is to discuss and think about the difference between problem‐solving and solution‐building interview questions when it comes to treatment regarding how best to help children and parents with serious obesity health problems. Conclusion: There is a great need for treatment models and the prevention of childhood obesity now and in future, which presents an interesting and urgent challenge for open‐minded thinking and new fields of research.
Introduction to medical family therapy
Authors: Wirtberg Ingegerd 
Published: August 2010

AbstractThe onset of illness and/or disability in children may also create difficulties at psychosocial levels – for the child, the family, her network and even in relations between them and the medical team. Medical family therapy, coupled with salutogenic theory and Marte meo offers specific ways of working with such difficulties so that the family and the medical team can work together in a mutually supportive manner.
Reproducing the bifidogenic effect of human milk in formula‐fed infants: Why and how?
Authors: Moro Guido E , Arslanoglu Sertac 
Published: August 2010

AbstractAwareness of the key role of the intestinal microflora in the generation of the immunophysiological regulation and in the defence against pathogenic agents has attracted our interest in ways of manipulating the microbiota to improve health. Dietary modulation of the intestinal microflora is today one of the main topics of interest in the nutritional sciences. Performing this modulation in the neonatal or early infancy period, when immunological programming takes place, is a relatively new concept. Fructo‐oligosaccharides (FOS) and galacto‐oligosaccharides (GOS) are prebiotics whose bifidogenic activity has been proven in adults. However, only recently have they been combined in infant formulas to reproduce the prebiotic effect of human milk oligosaccharides. In two consecutive trials, it has been demonstrated that supplementation of infant formulas with a mixture of GOS and FOS modified the fecal flora of term and preterm infants, stimulating the growth of Bifidobacteria. In the trial with term infants, the bifidogenic effect of the prebiotic mixture was dose dependent and there was also a significant increase in the number of Lactobacilli in the supplemented group. These findings offer a promising horizon for the early prevention of allergy and infections in infants.
Dietary prebiotic oligosaccharides are detectable in the faeces of formula‐fed infants
Authors: Moro Guido E , Stahl Bernd , Fanaro Silvia , Jelinek Jürgen , Boehm Günther , Coppa Giovanni V 
Published: August 2010

AbstractHuman milk oligosaccharides are not digested during intestinal passage and can be detected in stools. In this study it was investigated whether a prebiotic mixture of low‐molecular‐weight galacto‐oligosaccharides (GOS) and high‐molecular‐weight fructo‐oligosaccharides (FOS) can be detected in stool samples of formula‐fed infants. The test formula was supplemented with 0.8 g/dl oligosaccharides (GOS+FOS). In the control formula, maltodextrins were used as placebo. Fecal flora was assessed at the beginning (day 1) and at the end of a 28‐d feeding period (day 2). At day 2 the content of galacto‐ and fructo‐oligosaccharides in the stool samples were measured. On study day 1, the number of bifidobacteria was not different among the groups (supplemented group: 7.7 (6.2) CFU/g; placebo group: 8.0 (6.0) CFU/g). At the end of the 28‐d feeding period, the number of bifidobacteria was significantly higher in the group fed the supplemented formula when compared to placebo (supplemented group: 9.8 (0.7) CFU/g stool; placebo group: 7.1 (4.7) CFU/g stool; p<0.001). In all infants fed the supplemented formula, GOS and FOS could be identified in the stool samples. That was not the case in infants fed the non‐supplemented formula. Conclusion: The present data confirm the bifidogenicity of oligosaccharides and indicate that dietary galacto‐oligosaccharides and long chain fructo‐oligosaccharides remain during the whole passage in the lumen of the gastrointestinal tract, similarly to human milk oligosaccharides.
Effects of specific lactic acid bacteria on the intestinal permeability to macromolecules and the inflammatory condition
Authors: Heyman Martine , Terpend Kathleen , Ménard Sandrine 
Published: August 2010

AbstractNon‐live probiotic bacteria and their fermentation products can be used in milk‐based formula intended for healthy infants. The effects of a milk formula fermented with Bifidobacterium breve and Streptococcus thermophilus and heated/dehydrated to inactivate the micro‐organisms have been reported over the last few years to decrease the intestinal permeability to macromolecules in experimental animals in vivo and more recently to down‐regulate inflammatory condition in vitro. Feeding guinea‐pigs with such dehydrated fermented milk reinforced the intestinal barrier resistance to food proteins (HRP, β‐lactoglobulin). In addition, the products secreted by bacteria were capable of inhibiting the lipopolysaccharide (LPS)‐induced TNF‐α secretion by human peripheral mononuclear blood cells. The active secretion products were resistant to digestive enzymes and their anti‐inflammatory properties were preserved after transepithelial transport across the filter‐grown intestinal epithelial cell line, especially in inflammatory conditions. The binding of LPS to monocytes as well as NFκB nuclear translocation leading to pro‐inflammatory cytokine transcription were inhibited by bacteria‐culture supernatants. Conclusion:
B. breve and S. thermophilus used as non‐live micro‐organisms in fermented infant formula seem to induce a reduction in macromolecular absorption and release metabolites exerting an anti‐TNF‐α effect, which persists after intestinal transport. Thus, specific lactic acid bacteria and their metabolites seem to affect positively the intestinal function.
Considerations and approaches in determining the protein and energy composition of preterm infant formulas
Authors: Fanaro Silvia , Cristofori Gloria , Mosca Fabio , Savino Francesco , Vigi Vittorio 
Published: August 2010

AbstractOptimal early nutritional support is considered a crucial issue in the care of the preterm infant, particularly of those with very low‐ or extremely low‐brithweight. Unfortunately, this goal is seldom satisfactorily attained.Several conditions such as hypoxia, acidosis, patent ductus arteriosus, drug therapy, reduced intestinal motility may interfere with an adequate nutritional delivery in the early neonatal period. Moreover, there is still concern about metabolic and intestinal tolerance of the currently suggested intakes and a lack of uniformity in the nutritional program among different NICUs. Finally, the vast majority of the available preterm formulas are not fully adequate to the real nutritional needs of these infants. Inadequate protein content and inappropriate protein energy ratio of most preterm formulas represent a matter of major concern, since there is a strict relationship between formula composition and the quantity and quality of weight gain. As a consequence there is a need of at least two milk formulas for different preterm infants: one for LBW and VLBW infants, the other for preterm infants weighing >1500 g.
The effect of protective nutrients on mucosal defense in the immature intestine
Authors: Forchielli Maria L , Allan Walker W 
Published: August 2010

AbstractOral nutrition plays a dual role in the gut, providing nutrition to the body while affecting the function of the gastrointestinal tract. The exposure of the gut to food antigens, in the form of either beneficial or harmful nutritional substances, contributes to a vast array of physiological and pathologic gastrointestinal responses with secondary systemic implications. The immune system of the gastrointestinal tract is always involved in the first line of defense, and its actions are particularly important in the early period of life as maturation takes place. From maturation, a balance ensues in the regulatory mechanism of host defense, ultimately leading to either tolerance or immune reaction. This paper emphasizes how some nutrients may beneficially affect the gastrointestinal immune system's maturation in both term and especially premature neonates.
Novel approaches to the nutritional management of the allergic infant
Authors: Isolauri Erika , Ouwehand Arthur C , Laitinen Kirsi 
Published: August 2010

AbstractThe increased prevalence of atopic diseases, i.e. atopic eczema, allergic rhinitis and asthma, has been described as the epidemic of the 21st century in Western societies. New approaches in the fight against allergic diseases are clearly called for, the target being the persistence of the allergic responder pattern beyond infancy. The advantage afforded by elimination diets lies in the silencing of specific allergic inflammation induced by an offending food. Novel nutritional approaches, beyond the treatment of food allergies, have recently attracted research interest subsequent to the identification of the immunomodulatory potential of specific dietary compounds. Dietary lipids as immunomodulators may prevent allergic sensitization by down‐regulating inflammatory response whilst protecting the epithelial barrier. Probiotic bacteria have been shown to reinforce the different lines of gut defence: immune exclusion, immune elimination and immune regulation. On this basis, the strategy against allergic disease proposed here is based on the administration of tolerogenic gut‐processed peptide fragments of a specific protein, in addition to the use of specific dietary compounds such as fatty acids and antioxidants, and introducing a microbial stimulus for the immature immune system by means of cultures of beneficial live micro‐organisms characteristic of the healthy infant gut microbiota.
Z‐score of weight for age of infants with atopic dermatitis and cow's milk allergy fed with a rice‐hydrolysate formula during the first two years of life
Authors: Savino Francesco , Castagno Emanuele , Monti Giovanna , Serraino Paola , Peltran Amalia , Oggero Roberto , Fanaro Silvia , Vigi Vittorio , Silvestro Leandra 
Published: August 2010

Abstract Background: Recently, rice‐based formulas have been widely used in hypoallergenic diets, but data on nutritional values are scarce. Aim: To evaluate the growth of infants fed with a rice‐based hydrolysate formula, compared to those infants fed with a soy formula or an extensively hydrolysed casein formula, in the first 2 y of life. Methods: A total of 88 infants were enrolled between March 2002 and March 2004. Fifty‐eight infants with atopic dermatitis (AD) and cow's milk allergy (CMA), confirmed by open challenge, were enrolled as study group: 15 were fed with a rice‐based hydrolysate formula (RHF), 17 with a soy‐based formula (SF) and 26 with an extensively hydrolysed casein formula (eHCF). Thirty infants with AD without cow's milk allergy were recruited as a control group (CG) and fed with a free diet. Weight was recorded on enrolment and at 3‐monthly intervals in the first year of life, and at 6‐monthly intervals in the second year. Infants were weighed naked, before feeding, by means of an electronic integrating scale. The z‐scores of weight for age were calculated. Statistics: One‐way analysis of variance and Student's t‐test were used for statistical comparison. Significance was set at p<0.05. Results: No significant differences between the RHF, SF and eHCF groups were observed for the z‐score of weight for age during the first 2 y of life, but a significantly lower difference was seen in the RHF group compared to the control group in the intervals 9 mo–1 y (p=0.025) and 1–1.5 y (p=0.020) of age. In contrast, the SF and eHCF groups were comparable to the control group, but the eHCF group was significantly lower (p=0) in the first trimester of life. Conclusion: Even if our findings show no significant difference between RHF and control, low weight observed in infants fed with RHF raises doubts about the nutritional adequacy of rice‐hydrolysate formulas.
Vitamin K prophylaxis: Leaving the old route for the new one?
Authors: Tandoi Francesco , Mosca Fabio , Agosti Massimo 
Published: August 2010

AbstractOral or parenteral administration of vitamin K is the accepted practice for prevention of early vitamin K deficiency bleeding (VKDB) in the newborn. However, vitamin K prophylaxis in the newborn continues to be a worldwide health concern, particularly in breastfed infants. This paper reviews the current status of the use of vitamin K for the prevention of early and late VKDB.
A prospective 10‐year study on children who had severe infantile colic
Authors: Savino Francesco , Castagno Emanuele , Bretto Roberta , Brondello Cristina , Palumeri Elisabetta , Oggero Roberto 
Published: August 2010

Abstract Aim: To evaluate the association between infantile colic and gastrointestinal, allergic and psychological disorders in childhood. Methods: A prospective study was conducted on 103 infants aged 31–87 d. After 10 y, between 2001 and 2003, the children were recalled and a paediatrician evaluated the selected disorders by anamnesis, medical examination, laboratory tests and parent interviews. Results: Of the 103 infants enrolled, 96 completed the study. There was an association between infantile colic and recurrent abdominal pain (p=0.001) and allergic disorders: allergic rhinitis, conjunctivitis, asthmatic bronchitis, pollenosis, atopic eczema and food allergy (p<0.05). Sleep disorders, fussiness, aggressiveness and feelings of supremacy are more frequent in children who suffered from colic during early infancy (p<0.05). A family history of gastrointestinal diseases and atopic diseases was significantly higher in infants with colic than in controls (p<0.05). Conclusion: Susceptibility to recurrent abdominal pain, allergic and psychological disorders in childhood may be increased by infantile colic. Our findings confirm that severe infantile colic might be the early expression of some of the most common disorders in childhood.