journal
https://read.qxmd.com/read/16817676/complementary-feeding-in-the-who-multicentre-growth-reference-study
#21
JOURNAL ARTICLE
(no author information available yet)
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...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720474/gaucher-disease-multiple-lessons-from-a-single-gene-disorder
#22
REVIEW
Ernest Beutler
UNLABELLED: Gaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a beta-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])...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720473/reversibility-of-cellular-and-organ-pathology-in-enzyme-replacement-trials-in-animal-models-of-lysosomal-storage-diseases
#23
REVIEW
Volkmar Gieselmann
UNLABELLED: Enzyme replacement therapy (ERT) has now become a feasible treatment option for several lysosomal storage diseases (LSDs). Although the rationale behind this approach is straightforward, there are many factors that may influence the efficacy of treatment. The reversibility of cellular and organ pathology depends on several factors including the particular organ targeted, the dose and biodistribution of enzyme, the accessibility of the target cell to the infused enzyme, the abundance of receptors for mannose-6-phosphate and other ligands in the target tissue and the activity of endocytosis...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720472/inhibition-and-reversibility-of-renal-changes-lessons-from-diabetic-kidney-disease
#24
REVIEW
Allan Flyvbjerg
UNLABELLED: This review describes the clinical characteristics of kidney disease in patients with diabetes in terms of functional and morphological changes, and summarizes the risk factors for progression of disease and the knowledge available today on various treatment modalities. New insights into the pathogenesis of kidney disease in diabetic patients are also reviewed in the context of the nephropathy of Fabry disease. Newly recognized pathways that play a role in the development/progression of kidney disease in patients with diabetes include metabolic factors, (e...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720471/lysosomal-dysfunction-cellular-pathology-and-clinical-symptoms-basic-principles
#25
REVIEW
Arnold J J Reuser, Maarten R Drost
UNLABELLED: Between 40 and 50 lysosomal storage disorders are known at present. Fine details of the pathogenic process involved are in general not known. This overview highlights the basic principles of lysosomal pathogenesis and the clinical consequences of defective genes involved in lysosomal functions. The subject is discussed in the context of the possibility of prevention and reversal of cellular and organ damage by enzyme replacement therapy. Also presented is a mechanical model for the muscle pathology observed in Pompe disease...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720469/fabry-disease-and-vascular-risk-factors-future-strategies-for-patient-based-studies-and-the-knockout-murine-model
#26
JOURNAL ARTICLE
David F Moore, Monique P Gelderman, Steven R Fuhrmann, Raphael Schiffmann, Roscoe O Brady, Ehud Goldin
UNLABELLED: Fabry disease is secondary to deficiency of the lysosomal enzyme alpha-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...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720468/increased-carotid-intima-media-thickness-in-the-absence-of-atherosclerotic-plaques-in-an-adult-population-with-fabry-disease
#27
JOURNAL ARTICLE
Frédéric Barbey, Noureddine Brakch, Ales Linhart, Xavier Jeanrenaud, Thomas Palecek, Jan Bultas, Michel Burnier, Daniel Hayoz
AIM: 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...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720467/magnetic-resonance-imaging-changes-in-fabry-disease
#28
REVIEW
Lionel Ginsberg, Renzo Manara, Alan R Valentine, Brian Kendall, Alessandro P Burlina
UNLABELLED: Recognized magnetic resonance imaging (MRI) abnormalities in the brains of patients with Fabry disease include the consequences of infarction and haemorrhage, non-specific white and grey matter lesions, vascular anomalies, in particular dolicho-ectasia, and a characteristic appearance of the posterior thalamus. A preliminary analysis of MRI findings in patients registered in FOS, the Fabry Outcome Survey, indicates that most patients had abnormal scans (25/47). The commonest abnormality, in males and females, was the presence of cerebral white matter lesions, the number of which increased with patient age...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720465/the-use-of-scoring-systems-in-patients-with-haematological-malignancy
#29
JOURNAL ARTICLE
Derralynn A Hughes
UNLABELLED: The utility of predictive systems in patients with haematological malignancy stems both from the heterogeneity of disease presentation and from the inherent disadvantages of therapy. There is an acute morbidity and mortality associated with chemotherapy and bone marrow transplantation, a need for long term follow-up, the possibility of treatment failure and the issue of cost. In general, the value of a scoring system is in its ability to quantify disease burden, classify patient subgroups and predict disease course...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720464/the-mainz-severity-score-index-mssi-development-and-validation-of-a-system-for-scoring-the-signs-and-symptoms-of-fabry-disease
#30
JOURNAL ARTICLE
Michael Beck
UNLABELLED: Fabry disease is a rare lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A. The resultant storage of undegraded glycolipids leads to the progressive development of potentially life-threatening manifestations affecting multiple organ systems in the body. This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease. CONCLUSION: The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720461/skewed-x-inactivation-in-healthy-individuals-and-in-different-diseases
#31
REVIEW
Karen Helene Ørstavik
UNLABELLED: In 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...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720460/x-chromosome-inactivation-role-in-skin-disease-expression
#32
REVIEW
Rudolf Happle
UNLABELLED: The occurrence of X inactivation in mammals has the consequence that all women are functional mosaics. In X-linked skin disorders, Lyonization usually gives rise to a mosaic pattern, as manifest by the appearance of the lines of Blaschko. This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hünermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as hypohidrotic ectodermal dysplasia of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopecia-photophobia) syndrome and X-linked dyskeratosis congenita...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720459/the-pattern-of-inheritance-of-x-linked-traits-is-not-dominant-or-recessive-just-x-linked
#33
JOURNAL ARTICLE
William B Dobyns
UNLABELLED: Our modern concepts of genetic inheritance originated nearly a century ago. Early concepts of dominant and recessive inheritance were developed in insects and were subsequently applied to sex-linked inheritance in mammals. Years of clinical experience, however, suggest that the modern-day rules for X-linked dominant and recessive diseases do not explain why so many female carriers of X-linked 'recessive' disorders have an abnormal phenotype. In a review of 32 X-linked diseases we revealed an unexpectedly high degree of intermediate disease penetrance in females that cannot be explained by existing concepts...
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16720457/lysosomal-diseases-natural-course-pathology-and-therapy-proceedings-and-abstracts-of-the-5th-international-symposium-valencia-spain-april-2005
#34
(no author information available yet)
No abstract text is available yet for this article.
April 2006: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214778/advances-in-the-management-of-digestive-problems-during-the-first-months-of-life
#35
JOURNAL ARTICLE
Francesco Savino, Stefano Maccario, Emanuele Castagno, Francesco Cresi, Franco Cavallo, Paola Dalmasso, Silvia Fanaro, Roberto Oggero, Leandra Silvestro
UNLABELLED: A study was carried out on 168 full-term infants with digestive problems such as regurgitation and/or constipation to evaluate the efficacy of new infant formulas containing partially hydrolysed whey protein, modified vegetable oil with a high beta-palmitic acid content, prebiotic oligosaccharides and starch. Infants receiving the new formulas had an increase in stool frequency of 0.60 between day 1 and day 7 (95% CI 0.19-1.01; p=0.004) and 0.53 (95% CI 0.11-0.90; p=0.015) between day 7 and day 14...
October 2005: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214777/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
#36
JOURNAL ARTICLE
Francesco Savino, Emanuele Castagno, Giovanna Monti, Paola Serraino, Amalia Peltran, Roberto Oggero, Silvia Fanaro, Vittorio Vigi, Leandra Silvestro
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)...
October 2005: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214772/calcium-and-phosphorus-nutrition-in-preterm-infants
#37
JOURNAL ARTICLE
Sergio Demarini
Metabolic bone disease is a common event in preterm infants. Between 24 wk gestation and term, the fetus accrues approximately 80% of body Ca, P and Mg. Consequently, preterm infants miss in part or completely the period of greatest mineral accretion. Ca and P requirements in preterm infants are based on demands for matching intrauterine bone mineral accretion rates and on maintenance of normal serum Ca and P concentrations. Daily physical therapy may be a useful adjunct, as it is associated with a significant increase in bone mineral density and content...
October 2005: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214764/effects-of-specific-lactic-acid-bacteria-on-the-intestinal-permeability-to-macromolecules-and-the-inflammatory-condition
#38
JOURNAL ARTICLE
Martine Heyman, Kathleen Terpend, Sandrine Ménard
UNLABELLED: Non-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...
October 2005: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214763/increase-of-faecal-bifidobacteria-due-to-dietary-oligosaccharides-induces-a-reduction-of-clinically-relevant-pathogen-germs-in-the-faeces-of-formula-fed-preterm-infants
#39
JOURNAL ARTICLE
Jan Knol, Günther Boehm, Maura Lidestri, Franco Negretti, Jürgen Jelinek, Massimo Agosti, Bernd Stahl, Antonio Marini, Fabio Mosca
UNLABELLED: In a previous study on formula-fed preterm infants, we were able to demonstrate that dietary oligosaccharides (a mixture of 90% galacto-oligosaccharides and 10% fructo-oligosaccharides in a concentration of 1 g/dl) stimulate the growth of faecal bifidobacteria. In the present explorative analysis of this study, we focus on the effect of the dominance of bifidobacteria on the presence of clinically relevant pathogens (Staphylococcus aureus, Staphylococcus epidermidis, Staphylococcus haemolyticus, Pseudomonas aeruginosa, Enterobacter, Klebsiella, Proteus, Streptococcus group B, Clostridium difficile, Bacillus subtilis and Acinetobacter)...
October 2005: Acta Paediatrica. Supplement
https://read.qxmd.com/read/16214762/dietary-prebiotic-oligosaccharides-are-detectable-in-the-faeces-of-formula-fed-infants
#40
JOURNAL ARTICLE
Guido E Moro, Bernd Stahl, Silvia Fanaro, Jürgen Jelinek, Günther Boehm, Giovanni V Coppa
UNLABELLED: Human 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)...
October 2005: Acta Paediatrica. Supplement
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