1,720,983 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 textImplementation 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 textGenotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
No full textAMS: to confirm the diagnosis of 21-hydroxylase deficiency (21-OHD) by the analysis of CYP21A2 gene in infants with clinical and/or biochemical features of 21-OHD in order to clarify which patients to submit to genetic analysis; to analyze the genotype-phenotype concordance in these infants.
SUBJECTS AND METHODS:
We studied 25 children with clinical and/or biochemical features of 21-OHD. All of them and their parents were submitted to genetic analysis of CYP21A2. Patients were classified in 3 groups according to mutations' severity: severe (group A), moderate (group B) or mild (group C).
RESULTS:
CYP21A2 gene mutations were found in 17 children. Whereas all infants of groups A and B presented a classical form of 21- OHD, children of group C had a non-classical form of 21-OHD. Four infants resulted heterozygotes and 4 children were wildtype. A girl clinically presenting a non-classical form of 21-OHD resulted compound heterozygote with one of the mutations not described in literature (R25W) and whose residual enzymatic activity is not already known. All affected children presented a 17-OHP level after ACTH stimulation greater than 100 nmol/l. We found an optimal concordance between 17-OHP levels after ACTH test and genotype.
CONCLUSIONS:
CYP21A2 analysis permitted to confirm the diagnosis of 21-OHD in 68% of our children. To improve this percentage we suggest to perform the CYP21A2 analysis only when 17-OHP after ACTH test is greater than 100 nmol/l. Moreover, we found an optimal genotype-phenotype concordance in the 21-OHD patient
A technique of mRNA extraction and labeling from circulating lymphocytes of children treated with growth hormone replacement therapy for microarray analysis
No full textRole of genotype in the diagnosis of children with 21-hydroxylase deficiency
No full textBackground: Mutations of CYP21A2 gene are responsible of 21-hydroxylase deficiency (21-OHD), the most common enzymatic defect causing congenital adrenal hyperplasia (CAH).
Objective and hypotheses: The aims of our study were: to confirm the diagnosis of 21-OHD by the analysis of CYP21A2 in infants with clinical features of 21-OHD; to analyze the genotype-phenotype relationship in these infants.
Methods: We studied 21 children with clinical features of 21-OHD: 4 babies presented a salt-wasting form of CAH, 12 a premature pubarche and 5 an elevated 17-OHP level at newborn screening. All of them and their parents were submitted to genetic analysis of CYP21A2, performed by PCR, MLPA and exons and promoter sequencing. Patients were classified in 3 groups according to predict mutations’ severity: severe (group A), moderate (group B) or mild (group C).
Results: The most frequent mutation in our population was V281L. All children in group A (2) and B (2) presented a salt-wasting form of CAH. Eight children were in group C and had a non classical form of CAH. Four infants were heterozygotes for 21-OHD and other 4 children did not present mutations in CYP21A2. A girl clinically presenting a non classical form of CAH was a compound heterozygote for Q318X and R25S, a new mutation whose residual enzymatic activity is not known, moreover she shown 4 genes at MLPA analysis. Analyzing the correlation between the 17-OHP levels after ACTH stimulation test and the genotype, we found an optimal relationship in patients of all three groups. All affected children presented a 17-OHP level after ACTH stimulation greater than 100 nmol/L.
Conclusions: CYP21A2 analysis permitted to confirm the diagnosis of 21-OHD in 61.9% of our children. To improve this percentage we suggest to perform the analysis of CYP21A2 only when 17-OHP after ACTH stimulation is greater than 100 nmol/L. We confirm an optimal genotype-phenotype relationship in the 21-OHD patients
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia
No full textCongenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management
No full textObjective: To evaluate the incidence of congenital hypothyroidism (CH) with delayed TSH elevation among low-birthweight (LBW) newborns in North-Eastern Italy and to verify if they need a second or third screening. Design: Analysis of clinical and biochemical data of newborns affected by CH with delayed TSH elevation identified by neonatal screening. Methods: Data of all newborns with birth weight (BW) <2500 g and evidence of delayed TSH elevation at newborn screening were collected between 2011 and 2014. Confirmatory tests were based on serum TSH and FT4 levels. All their clinical signs at diagnosis were reported. Results: 57.5% of LBW newborns with delayed TSH increase at neonatal screening presented a CH with delayed TSH elevation and began a treatment with l-thyroxine. The incidence of this condition in North-Eastern Italy is therefore 1:908. The remaining infants presented a subclinical hypothyroidism (21.25%) or a complete normal serum thyroid function (21.25%). These data could be drawn only from a retesting strategy of neonatal screening. Conclusions: Our report describes the incidence of CH with delayed TSH rise in North-Eastern Italy and differentiates this clinical condition from other thyroid dysfunctions of preterm or LBW newborns. The second-screening strategy for CH in neonates with BW < 2500 g proved useful in detecting newborns who otherwise would not be identified at the first screening
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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