1,720,972 research outputs found
[Activity of Ag-NORs (nucleolar organizer regions) in lymphocytes and human neoplastic cells
No full textFrequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality
No full textMolecular biology and nuclear medicine in pediatric hydronephrosis.
Full text linkPediatric hydronephrosis may correspond to very different clinical situations, ranging from fully benign reversible dilatation to severe obstructive nephropathy. The genetic research is difficult, mainly because the condition is probably polygenic and the embryology of the urinary system is very complex and depends on a multifaceted interaction of genetic and environmental factors. Molecular biology has gained new insights in the complicated urinary system and in the mechanisms of obstructive nephropathy. Some mediators (tumor growth factor, tumor necrosis factor, renin angiotensin system, etc.) could be considered molecular markers of obstruction and it has been proposed to introduce them in clinical decision making, in order to make an accurate selection of patients needing surgical correction. Scintigraphy has been a standard procedure in the management of pediatric hydronephrosis for decades and has been used in many clinical studies designed to evaluate the role of selected molecular markers in clinical settings. The relationships between scintigraphic parameters and molecular mediators seems promising, in particular for the evaluation of the Reanin Angiotensin System, which plays many roles in the natural history of pediatric hydronephrosis. Angiotensin up-regulation is a turning point in many pediatric hydronephrosis and can be unveiled by captopril scintigraphy, which allows a timely diagnosis of obstruction, before irreversible parenchymal injury and loss of renal functio
Reciprocal and Robertsonian translocations in a population selected for suspected chromosome anomalies
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PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
No full textHeterozygous humans for PAX2 mutations show autosomal dominant papillorenal syndrome (PRS), consisting of ocular colobomas, renal hypo/dysplasia and progressive renal failure in childhood. PAX2 mutations have also been identified in patients with isolated renal hypo/dysplasia. Twenty unrelated children and young adults with kidney and urinary tract malformations and no ocular abnormalities were retrospectively recruited for PAX2 mutational analysis. All patients had undergone renal transplantation after end-stage renal disease. We identified two new sequence variations: (i) a deletion causing a frameshift (c.69delC) and (ii) a nucleotide substitution determining a splice site mutation (c.410+5 G/A) by predictive analysis. Therefore, we suggest PAX2 molecular analysis to be extended to all patients with congenital malformations of kidney and urinary tract (CAKUT)
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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