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1.
Allergy ; 68(2): 246-8, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23205566

ABSTRACT

Atopy patch tests (APTs) have been proposed for the diagnostic approach in children with non-IgE-mediated cow's milk allergy and gastrointestinal symptoms. We aimed to investigate the benefit of APTs in predicting oral tolerance in these patients. We prospectively evaluated 172 subjects with a sure diagnosis of non-IgE-mediated CMA and gastrointestinal symptoms (97 boys, 56.4%; age, 6.37 m; range, 2-12 m). At diagnosis, 113/172 (65.7%) children had positive APTs to cow's milk proteins (CMP). After 12 months of exclusion, diet APTs were repeated immediately before OFC. APTs significantly correlated (P < 0.001) with the OFC outcome (r 0.579). Diagnostic accuracy was sensitivity of 67.95%, specificity of 88.3%, PPV of 82.81%, NPV of 76.85%, and a +LR of 5.80. APTs are a valuable tool in the follow-up of children with non-IgE-mediated CMA-related gastrointestinal symptoms by contributing in determining whether an OFC can safely be undertaken.


Subject(s)
Gastrointestinal Diseases/etiology , Immune Tolerance , Milk Hypersensitivity/diagnosis , Milk/adverse effects , Patch Tests/methods , Age Factors , Animals , Cattle , Child , Child, Preschool , Cohort Studies , Female , Gastrointestinal Diseases/physiopathology , Humans , Immunoglobulin E/immunology , Immunoglobulin E/metabolism , Infant , Male , Milk Hypersensitivity/complications , Milk Hypersensitivity/immunology , Milk Proteins , Predictive Value of Tests , Prospective Studies , Risk Assessment , Sensitivity and Specificity , Severity of Illness Index , Sex Factors
2.
Aliment Pharmacol Ther ; 35(7): 782-8, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22324448

ABSTRACT

BACKGROUND: Acute diarrhoea is a frequent problem in children with heavy economic burden for families and society. AIM: To test the efficacy of a new synbiotic formulation containing Lactobacillus paracasei B21060, arabinogalactan and xilooligosaccharides in children with acute diarrhoea. METHODS: Double-blind, randomised, placebo-controlled trial, including children (age 3-36 m) with acute diarrhoea who were allocated to placebo or synbiotic group. Major outcome was resolution rate of diarrhoea at 72 h. Total duration of diarrhoea, daily stool outputs, stool consistency, working days lost by parents, adjunctive medications, and hospitalisation were also assessed. RESULTS: We enrolled 55 children in placebo group and 52 in synbiotic group. The two groups were similar for demographic and clinical characteristics. Resolution rate of diarrhoea at 72 h was significantly higher in synbiotic group (67%) compared to placebo group (40%, P = 0.005). Children in synbiotic group showed a significant reduction in the duration of diarrhoea (90.5 h, 78.1-102.9 vs. 109.8 h, 96.0-123.5, P = 0.040), daily stool outputs (3.3, 2.8-3.8 vs. 2.4, 1.9-2.8, P = 0.005) and stool consistency (1.3, 0.9-1.6 vs. 0.6, 0.4-0.9, P = 0.002) compared to placebo group (data expressed as mean, 95% CI). Rate of parents that missed at least one working day (41.8% vs. 15.4%, P = 0.003), rate of children that needed adjunctive medications (25.5% vs. 5.8%, P = 0.005) or hospitalisation (10.9% vs. 0%, P = 0.014) after the first 72 h of treatment, were reduced in synbiotic group. CONCLUSION: The synbiotic formulation studied is effective in children with acute diarrhoea. Australian New Zealand Clinical Trials Registry (ACTRN12611000641998).


Subject(s)
Diarrhea, Infantile/therapy , Galactans/administration & dosage , Glucuronates/administration & dosage , Lactobacillus , Oligosaccharides/administration & dosage , Synbiotics , Child, Preschool , Cost-Benefit Analysis , Diarrhea, Infantile/economics , Double-Blind Method , Female , Hospitalization , Humans , Infant , Male , Parents/psychology , Prospective Studies , Severity of Illness Index , Time Factors , Treatment Outcome
3.
Am J Med Genet ; 91(2): 123-5, 2000 Mar 13.
Article in English | MEDLINE | ID: mdl-10748410

ABSTRACT

We report on a male patient with bilateral upper limb amelia, facial clefts, and bilateral renal hypoplasia. We compare the clinical findings in our patient with those of the other three similar cases reported. This is the first long-surviving patient described with this association of malformations.


Subject(s)
Abnormalities, Multiple/genetics , Arm/abnormalities , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Ectromelia/diagnosis , Kidney/abnormalities , Ectromelia/diagnostic imaging , Humans , Infant , Male , Radiography , Syndrome
4.
Prenat Diagn ; 19(8): 771-3, 1999 Aug.
Article in English | MEDLINE | ID: mdl-10451527

ABSTRACT

Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport (CAA), relatively common in Finland and Italy. After weaning, LPI patients present poor feeding, vomiting and failure to thrive. A severe pulmonary complication and episodes of metabolic imbalance may lead to death. Prenatal diagnosis has not been available due to lack of either biochemical or molecular markers to be used in the fetal period. The LPI locus has recently been assigned to chromosome 14q12, very close to the T-cell receptor alpha-chain (TCRA) locus. We carried out a prenatal diagnosis for LPI by linkage analysis in one LPI Italian family after CVS. For the haplotype analysis 11 DNA markers from the LPI critical region were used (D14S742, D14S50, D14S283, five TCRA intragenic polymorphic sites, D14S990, MYH7 and D14S80). It was concluded that the haplotype analysis indicated that the fetus was healthy as he had inherited the two wild alleles of the LPI locus. After birth, the clearances of CAA were measured and found to be in the normal range, thus confirming the result of the prenatal diagnosis. The prenatal diagnosis of LPI can now be offered to families affected by LPI.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/genetics , Chorionic Villi Sampling , Chromosomes, Human, Pair 14 , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Lysine/metabolism , Adult , Amino Acid Metabolism, Inborn Errors/embryology , Chromosome Mapping , DNA Primers , Female , Fetal Diseases/embryology , Genetic Markers , Haplotypes , Humans , Lysine/urine , Pregnancy , Pregnancy Trimester, First , Receptors, Antigen, T-Cell, alpha-beta/genetics
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