A5065602742- Lysosomal Storage Disorders Research
- Infant Nutrition and Health
- Breastfeeding Practices and Influences
- Trypanosoma species research and implications
- Neonatal Respiratory Health Research
- Glycogen Storage Diseases and Myoclonus
- Digestive system and related health
- Carbohydrate Chemistry and Synthesis
- Connective tissue disorders research
- Proteoglycans and glycosaminoglycans research
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Celiac Disease Research and Management
- Glycosylation and Glycoproteins Research
- Biomedical Research and Pathophysiology
- Microscopic Colitis
- Milk Quality and Mastitis in Dairy Cows
- Genetics and Neurodevelopmental Disorders
- Coenzyme Q10 studies and effects
- Viral gastroenteritis research and epidemiology
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Birth, Development, and Health
- Congenital heart defects research
- Craniofacial Disorders and Treatments
Marche Polytechnic University
2010-2022
Ospedali Riuniti di Ancona
1996-2015
Fondazione Ospedale Salesi
2005-2008
Infant
2008
I.R.C.C.S. Oasi Maria SS
2001
In-Q-Tel
2000
University of Parma
1997
University of Pisa
1978-1979
Oligosaccharides represent one of the main components human milk, and they have been assigned important biological functions for newborns. Qualitatively quantitatively, their presence in milk is strictly related to expression mother's Se and/or Le genes, on basis which 4 different groups described. The aim study was provide new data oligosaccharide composition preterm relation groups.High-pH anion-exchange chromatography used quantify levels 23 oligosaccharides lactose 252 samples collected...
This study aimed to examine the carbohydrate content (monosaccharides, lactose, and oligosaccharides) of human milk over 4 months lactation determine whether any changes occurred time. Milk samples from 46 mothers, who delivered at term, were collected 4th, 10th, 30th, 60th, 90th, 120th days after delivery. Carbohydrates measured by high-pressure liquid chromatography. Mean lactose concentration (±SD) increased 56 ± 6.06 g/L on day 68.9 8.16 120. Oligosaccharide level decreased 20.9 4.81...
Twenty‐one oligosaccharides of human milk were quantified by high‐performance anion‐exchange chromatography. Milk samples collected from 18 mothers during the first 3 mo lactation. The data show that highest amount all is present at day 4 postpartum (20 g l −1 ) and then decreases about 20% 30 protective role played these substances against different infectious agents, in organs systems breastfed baby, emphasized.
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS caused by aberrant RAS-MAPK signaling genetically heterogeneous, which explains, in part, marked clinical variability documented for this Mendelian trait. Recently, we others identified SOS1 as a major gene underlying NS. Here, explored further spectrum of mutations their associated phenotypic features. Mutation scanning entire coding sequence allowed identification 33 different...
Background A multicenter research study of Down syndrome patients was carried out to estimate the prevalence celiac disease in with and show clinical characteristics laboratory data patients. Methods The authors studied 1,202 Fifty-five (group 1) were compared 55 immunoglobulin antigliadin–positive antiendomysium antibodies–negative 2) 57 antigliadin–negative 3). Results Celiac diagnosed (4.6%). In group 1, weight height percentiles shifted left, whereas these parameters normally distributed...
Mucopolysaccharidosis type I (MPS I) is a progressive and multisystemic disease, even in its attenuated Hurler-Scheie Scheie forms. Clinical trials of enzyme-replacement therapy MPS have shown clinical benefit patients with considerable preexisting but no data exist on the effect beginning enzyme replacement before onset significant signs disease. Here we present 5-year follow-up boy who had laronidase initiated at age 5 months compare his course to that older sister, began treatment years...
The aim of this study was to identify a link between the total amount breast milk oligosaccharides and faecal microbiota composition newborns at end first month life, with special attention paid bifidobacteria, establish role, if any, different in determining gut composition.Milk oligosaccharide groups were identified by high-performance anion exchange chromatography analysis. DPCRNA from newborns' samples 30 days life isolated processed polymerase chain reaction analyses that allow...
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation characterized by peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed affected syndrome. Sanger sequencing was...
The benefits of human milk have been confirmed for preterm infants, due to its nutritional aspects and biologically active compounds. Oligosaccharides play an emerging leading role among these Mother's can sometimes be lacking infants; pasteurized donor represents therefore important alternative. aim this study is evaluate the effects Holder pasteurization on concentration pattern oligosaccharides in milk. Our results indicate that does not affect or analyzed oligosaccharides.
Mutational analysis of the IDUA gene was performed in a cohort 102 European patients with mucopolysaccharidosis type I. A total 54 distinct mutant alleles were identified, 34 which novel including 12 missense mutations, 2 nonsense splicing 5 micro-deletions, 1 micro-duplication translational initiation site mutation, and 'no-stop' change (p.X654RextX62). Evidence for pathological significance all mutations identified sought by means range methodological approaches, assessment evolutionary...
Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated miglustat for periods from 48 96 months. Based on the age at onset of neurological manifestations patients' phenotypes classified as: adult (n = 6), juvenile 9), late infantile early 2). Two had exclusively visceral phenotype. We clinically evaluated involvement, giving a score severity ranging 0 (best) 3 (worst) gait abnormalities,...
Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized a progressive course with multisystem involvement. Clinically, classified into two forms: severe (Hurler syndrome), which presents in infancy rapid neurological involvement attenuated (Hurler/Scheie Scheie syndromes), slower progression absent to mild nervous system The specific treatment for consists enzyme-replacement therapy laronidase (human recombinant...
Background: It is well known that human milk oligosaccharides play an important role as prebiotics, anti-inflammatory, and anti-infective agents. In the last few years, several studies have been performed using specific oligosaccharides, such 2'-fucosyllactose 6'-sialylactose, to evaluate their biological functions. Objectives: The aim of present study anti-adhesive effect above on Escherichia coli Salmonella fyris. Methods: Adhesion experiments were in presence 6'-sialyllactose potential...
To date, there is no complete structural characterization of human milk glycosaminoglycans (GAGs) available nor do any data exist on their composition in bovine milk. Total GAGs were determined extracts from and Samples subjected to digestion with specific enzymes, treated nitrous acid, analyzed by agarose-gel electrophoresis high-performance liquid chromatography for characterization. Quantitative analyses yielded ∼7 times more than In particular, galactosaminoglycans, chondroitin sulfate...
Human milk is a unique fluid in glycobiology due to the presence of many free structurally complex oligosaccharides emerging as important dietary factors during early life and having biological protective functions. Methods that allow accurate profiling oligosaccharide mixtures this with quantification four known genetically determined groups are welcomed. A high-voltage CE separation detection at 254 nm 17 neutral acidic human (HMO) standard along lactose derivatized 2-aminoacridone, using...