1,720,995 research outputs found
Lack of association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children
No full textNeonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program.
No full textIncidence of inborn errors of metabolism: results of newborn screening program in North-East Italy
No full textIncidence of inborn errors of metabolism: results of newborn screening program in North-East Ital
Characterizatin of phenyalanine hydroxylase alleles in North-East Italy: a preliminary investigation
No full textCharacterizatin of phenyalanine hydroxylase alleles in North-East Italy: a preliminary investigatio
Neonatal screening for congenital errors of metabolism in Northeast Italy: retrospective study of the years 1978-1997
No full textNeonatal screening for congenital errors of metabolism in Northeast Italy: retrospective study of the years 1978-199
Osteogenesis Imperfecta: clinical, biochemical and molecular findings
No full textMutations in COL1A1 and COL1A2 genes, encoding the 1 and 2 chain of type I collagen, respectively, are responsible for the vast majority of cases of Osteogenesis Imperfecta (95% of patients with a definite clinical diagnosis). We have investigated twenty two OI patients, representing an heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in twenty of them: no recurrent mutation was found in unrelated subjects; fifteen out of twenty mutations had not been reported previously. In two patients we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non collagenous disease loci are presumably involved in OI types beyond the traditional Sillence’s classification
Circulating ghrelin levels in girls with central precocious puberty are reduced during treatment with LHRH analog.
No full textDecreased levels of ghrelin have been measured in growing children during puberty. No data are available for girls with central precocious puberty (CPP). Aims: To explore ghrelin changes before, during, and after GnRH analog treatment in girls with CPP. Subjects and methods: A sample of 20 Caucasian girls (8.08±0.65 years of age) with CPP was recruited. Height and weight, bone age, LH, FSH, 17β estradiol (E2), and ghrelin were measured before starting treatment with GnRH analog, 18 months after therapy began and again 6 months after therapy discontinuation. Results: LH and E2 serum levels decreased significantly during treatment (2.45±2.03 vs 0.67±0.49 Ul/l, P<0.01 and 28.17±9.7 vs 15 pmol/l, P<0.01 respectively), returning to baseline levels after the discontinuation of therapy (4.75±1.66 UI/l and 29.23±6.99 pmol/l respectively). LH peaked following LHRH stimulation significantly (P<0.01) decreased during treatment (24.45±14.17 vs 1.3±0.18 UI/1) andthen increased after therapy discontinuation (12.58±6.09, P<0.01). Ghrelin decreased significantly (P<0.05) duringtreatment (1849±322 vs 1207±637pg/ml), and increased, though not significantly (P=0.09) after therapy withdrawal (1567±629 pg/ml). Conclusions: Contrary to what is expected in physiologic puberty, where ghrelin is progressively reduced, the prepubertal hormone millieau induced by GnRHa treatment in patients suffering from central precocious puberty (CPP) did not promote an increase in ghrelin circulating levels. Therefore, in CPP, ghrelin secretion seems to be independent from pubertal development per se. Concomitant estrogen suppression during treatment may play a potential role in the regulation of ghrelin secretion in these girls
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
No full textGenetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern italian neonatal screening
No full textThe aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products were purified and sequenced with both forward and reverse primers. The most frequent mutations were IVS12nt1g>a (16.7%) and R408W, P281L and L48S (all together 11.1%). As expected, compound heterozygosity was the usual finding; homozygosity was found only in two patients with R158Q and IVS2nt5g>c mutations. The V230I mutation was reported for the first time in Italy. We found six previously described polymorphisms (V245V, IVS4nt47c>t, IVS2nt19t>c, IVS3nt-22c>t, IVS5nt-54a>g, and E280>Q280). To our knowledge, four genotypes were not previously described: R158Q/V230I present in one patient with classical PKU; and L48S/R408Q, A403V/IVS2nt-13t>g, and G272X/V230I present in patients showing HPA phenotype. Most of the mutations were located in the exons 12 and 7 and in exon/intron 2 (83.3% detection of total mutations in PKU or HPA patients of Northeastern Italy). From a practical viewpoint, the genetic analysis of blood-spots collected on Guthrie cards for neonatal screening for PKU could be a simple method to establish the genotype of neonates. Consequently, the genotype/phenotype correlation could lead to a more accurate diagnosis and prognosis for families
A technique of mRNA extraction and labeling from circulating lymphocytes of children treated with growth hormone replacement therapy for microarray analysis
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