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Biomedical subjects

G Mercadante

Publications and source records attributed to G Mercadante.

At least 19 recordsLinked to original sources

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.

Human sex chromosomes, which are morphologically and genetically different, share few regions of homology. Among them, only pseudoautosomal regions (PARs) pair and recombine during meiosis. To better address the complex biology of these regions, we sequenced the telomeric 400 kb of the long arm of the human X chromosome, including 330 kb of the human Xq/YqPAR and the telomere. Sequencing reveals subregions with distinctive regulatory and evolutionary features. The proximal 295 kb contains two genes inactivated on both the inactive X and Y chromosomes [ SYBL1 and a novel homologue ( HSPRY3 ) of Drosophila sprouty ]. The GC-rich distal 35 kb, added in stages and much later in evolution, contains the X/Y expressed gene IL9R and a novel gene, CXYorf1, only 5 kb from the Xq telomere. These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.

Base Composition↗

Human and mouse SYBL1 gene structure and expression.

SYBL1 is a gene in the 320kb human pseudo-autosomal region at the terminus of Xq and Yq. In contrast to other pseudoautosomal genes, SYBL1 is inactivated on one X in every female cell, and is also inactive on the Y of male cells. Hypermethylation of the CpG island associated with the human gene is involved in this phenomenon. In an attempt to further examine its regulation, the genomic organization of the X-linked mouse Sybl1 homolog was analyzed and compared with the human gene. Human and mouse show the same exon number, exon-intron junctions and a highly conserved basal promoter. The structural and functional conservation of basal regulatory regions suggests that inactivation is imposed by similar auxiliary epistatic regulatory mechanism.

Animals↗

Screening for congenital renovascular hypoplasia and renal artery stenosis by acute converting enzyme inhibition.

To evaluate the usefulness of the captopril test for identifying renal artery stenosis (RAS) and renovascular hypoplasia (RAH), we studied 48 hypertensive patients. In 20 hypertensives with screening procedures indicating renovascular disease and in 28 essential hypertensives (EH), the plasma renin activity (PRA) responses to an oral test dose of captopril (50 mg) were studied. A 60-min post-captopril PRA increase of 150% (or 400% if baseline PRA < or = 3 ng/ml/h) was considered as positive. Renal angiography was performed in all cases. Among the 20 renovascular hypertensive patients, RAH in 9 and RAS in 11 subjects were proved by angiography. The captopril test in all patients with RAH resulted negative (mean PRA increase 50%); furthermore, the test identified 7 of the 11 RAS (mean PRA increase 477.6%); sensitivity and specificity for RAS were 64 and 88.8%, respectively. In the EH group, there were 3 false-positive subjects (mean PRA increase 122%). This study demonstrates that the PRA responses to a test dose of captopril are a useful screening test for distinguishing RAH from RAS, and for identifying the latter in hypertensive patients. These data also suggest that in subjects with RAH, hypertensive disease may not renin dependent.

Administration, Oral↗

Approach to ultrasound in oncology.

In a multicenter investigation carried out in 13,590 patients, 85 primitive and secondary abdominal neoplastic lesions were detected, the incidence being 0.6%. On the basis of this investigation, the role of ultrasonography in the clinical diagnosis, staging, and follow-up of oncologic diseases is summarized. Ultrasonography is employed for three basic steps in the staging of neoplastic lesions: 1. detection of lesions, 2. diagnosis of their nature, 3. balance of extension (TNM). Ultrasonography provides a lower diagnostic accuracy than CT and MRI as the balance of extension is concerned, but it yields reliable results for the diagnosis of malignancy if completed by ultrasonography guided percutaneous biopsy. The possibility of ultrasonography in the follow-up of neoplastic lesions and its applications in the treatment of some tumors are discussed.

Abdominal Neoplasms↗

Gold storage in the liver: appearance on CT scans.

The authors present one case in which high attenuation values in the liver parenchyma on computed tomographic scans were found in a patient who had been previously treated with colloidal gold for rheumatoid arthritis. Reticuloendothelial storage of gold was proved by biopsy.

Arthritis, Rheumatoid↗

[Quantitative evaluation of the phase image in radionuclide ventriculography ].

A functional image is a representation that enhances a particular characteristic of organ behaviour (feature enhancement) with a concomitant reduction or elimination of other informations. The functional image of phase (PI), obtained by Fourier analysis, may be interpreted to represent the onset of counts reduction or contraction in each region of the heart. Phase Spreading (PS), is a parameter derived from PI and represents ventricular temporal behaviour including some spatial information. Phase analysis and PS are very sensitive tools in the diagnosis and characterization of cardiac pathology. PS is a specific indicator of CAD, allows the introduction of normal ranges and is an example of quantitative evaluation of functional images.

Coronary Disease↗