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Biomedical subjects

S Julia

Publications and source records attributed to S Julia.

8 recordsLinked to original sources
PubMed2005

[3D echocardiography of the ascending aorta in Marfan's syndrome].

Marfan's syndrome is a cause of dilatation of the aorta, the main complication of which is dissection of the aorta. 2D echocardiography is the reference investigation for measuring the ascending aorta. Asymmetry of sinus dilatation makes a 3D approach necessary. Real time 3D echocardiography is a simple, non-invasive method which, by a biplane mode, allows measurement of the 3 sinuses of Valsalva. The aim of the study was to compare the 2D and 3D echocardiographic methods for measuring the ascending aorta. Fifteen patients (average age 12 +/- 8 years) with Marfan's syndrome were studied prospectively. The maximal 3D diameter was significantly greater than the 2D measurement (31.7 +/- 6.8 mm vs 29.9 +/- 6.6 mm, p< 0.005). In 4 patients, the difference was over 3 mm. The diameter between the right coronary and left coronary sinus was greater than the two others (right coronary-non coronary and left coronary-non coronary). The oldest 5 patients had an MRI aortic measurement very similar to that of 3D echocardiography (36.6 vs 36.7 mm). Real time 3D echocardiography in the biplane mode enables reliable and reproducible measurement of the aortic root in patients with Marfan's syndrome. Larger and multicenter studies are required to allow confirmation of the value of 3D echocardiography in the follow-up of these patients.

Adolescent↗
PubMed2004

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

The Albright hereditary osteodystrophy-like (AHO-like) syndrome was recently defined as a rare dysmorphic syndrome including brachymetaphalangism and mental retardation. This phenotype occurs in Albright hereditary osteodystrophy (AHO) but unlike it, the level of the Gs alpha protein activity is not reduced. To date 59 patients with these clinical and biochemical features have been reported, and for the majority of them (57/59) a cytogenetically visible 2q37 deletion has been observed. We report a new case of typical AHO-like syndrome with normal karyotype. Using the polymorphic marker D2S125 we found a loss of heterozygosity suggestive of a de novo 2q37 deletion of maternal origin. This hypothesis was confirmed by FISH analysis with a subtelomeric 2q probe containing the D2S90 marker. Genotypic analysis allowed us to map the proximal breakpoint of the subtelomeric deletion within an interval delimited by D2S2338 (present) and D2S2253 (deleted). This 2q subtelomeric deletion as small as 4 Mb is to date the smallest one observed in association with a typical AHO-like phenotype, and allows us to move the centromeric boundary of the AHO-like critical region by 750 kb towards the 2q telomere.

Adolescent↗
PubMed2000

[Genetic counseling in cystic fibrosis].

Genetic counseling is an important part of health care in patients with cystic fibrosis or respiratory diseases associated with the CFTR (cystic fibrosis transmembrane conductance regulator) gene, including certain types of allergic bronchopulmonary aspergilloses or bronchial diseases (diffuse bronchiectasia). The basic goal is to provide patients with information on the transmission of cystic fibrosis and to asses the risk of recurrence. This risk is determined from molecular biology analyses examining the CFTR gene. Genotyping is the only means of screening for the heterozygous state, frequent in the French population (about 1/30). Because of the large number of mutated alleles not covered entirely by the genetic tests, there remains a question of probability expressed as a residual risk of a heterozygous state. A prenatal genotype diagnosis should be proposed to heterozygous couples who have a 25% risk of having a diseased child. Technically, this is almost always possible and the results are highly reliable. Nevertheless, there remains the risks related to sample taking and the ethical issue about which the patients must be informed. Management of these at risk couples who desire a child must be based on a multidisciplinary approach, particularly important when one of the parents has overt cystic fibrosis.

Cystic Fibrosis↗
PubMed1992

N-substituted pyrazino[2,3-c][1,2,6]thiadiazine 2,2-dioxides. A new class of diuretics.

The synthesis and evaluation of a new class of diuretic agents derived from the pyrazino[2,3-c][1,2,6]thiadiazine 2,2-dioxide ring system are described. Preliminary structure-activity relationships indicate that the nature and location of the substituents at different positions of the heterocycle are crucial for activity. Thus, a novel synthetic methodology has been developed to selectively introduce the desired substituents at different positions. From the study of the pharmacological properties (dose-response curves, duration of action, and acute toxicity) of the most active compounds, 4-amino-1,7-diethyl-6-methylpyrazino[2,3-c][1,2,6]thiadiazine++ + 2,2-dioxide (9) was selected for further investigation. Compound 9 (C10H15N5O2S) crystallizes in space group P21/a with unit cell dimensions a = 16.482 (1), b = 9.3484 (3), c = 8.333 (3) A, beta = 103.003 (3) degrees, Z = 4.

Animals↗