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Biomedical subjects

A Losada

Publications and source records attributed to A Losada.

At least 19 recordsLinked to original sources

Identification of Xenopus SMC protein complexes required for sister chromatid cohesion.

The structural maintenance of chromosomes (SMC) family is a growing family of chromosomal ATPases. The founding class of SMC protein complexes, condensins, plays a central role in mitotic chromosome condensation. We report here a new class of SMC protein complexes containing XSMC1 and XSMC3, Xenopus homologs of yeast Smc1p and Smc3p, respectively. The protein complexes (termed cohesins) exist as two major forms with sedimentation coefficients of 9S and 14S. 9S cohesin is a heterodimer of XSMC1 and XSMC3, whereas 14S cohesin contains three additional subunits. One of them has been identified as a Xenopus homolog of the Schizosaccharomyces pombe Rad21p implicated in DNA repair and the Saccharomyces cerevisiae Scc1p/Mcd1p implicated in sister chromatid cohesion. 14S cohesin binds to interphase chromatin independently of DNA replication and dissociates from it at the onset of mitosis. Immunodepletion of cohesins during interphase causes defects in sister chromatid cohesion in subsequent mitosis, whereas condensation is unaffected. These results suggest that proper assembly of mitotic chromosomes is regulated by two distinct classes of SMC protein complexes, cohesins and condensins.

Adenosine Triphosphatases

Infantile pyramidal protrusion as a manifestation of lichen sclerosus et atrophicus.

BACKGROUND: A perineal infantile lesion previously described as "skin tag/fold" had recently been named infantile perianal pyramidal protrusion. It appears on the perineal median raphe of girls as a pyramidal soft tissue swelling, covered by smooth, red or rose-colored skin. Its pathogenesis is unknown. As in the case of other perianal lesions, knowledge about it is important, as concern about signs of child abuse grows. OBSERVATIONS: Four girls, 2 of them sisters, with infantile perianal pyramidal protrusion were studied. Three of these girls showed subtle clinical evidence of classic lichen sclerosus et atrophicus on first examination. The other girl developed vulvar lesions of lichen sclerosus et atrophicus months after the diagnosis of infantile perianal pyramidal protrusion. All 4 protrusions disclosed histopathological findings diagnostic of lichen sclerosus et atrophicus. CONCLUSIONS: Infantile perianal pyramidal protrusion is, at least in some patients, a peculiar form of lichen sclerosus et atrophicus that can precede other, more characteristic manifestations. We suggest changing the name to the more precise infantile perineal protrusion. Knowledge of this hitherto unrecognized clinical form of lichen sclerosus et atrophicus can help to explain anogenital symptoms and avoid its misinterpretation as a sign of sexual abuse.

Child

Organization of DNA sequences near the centromere of the Drosophila melanogaster Y chromosome.

The structural analysis of a yeast artificial chromosome clone from Drosophila melanogaster enriched in dodecasatellite sequences has led us to find a new retrotransposon that we have called Circe. Moreover, this retrotransposon has allowed the isolation of a contig encompassing approximately 200 kb near the centromere of the Y chromosome, providing an entry point into a region from which very little sequence information has been obtained to date. The molecular characterization of the contig has shown the presence of HeT-A telomeric retrotransposons close to the centromere of the Y chromosome, suggesting a telocentric origin for this submetacentric chromosome.

Animals

[Molecular genetic study in congenital myotonic dystrophy].

Congenital myotonic dystrophy (CMD) is the neonatal form of Steinert's myotonia. However, the symptoms and neuro-physiological findings are different from the classical adult form, there is a high mortality and early diagnosis of the condition is difficult. CMD occurs as a result of abnormal expansion of CTG triplets on chromosome 19. There is dominant autosomal transmission of this multi-systemic disorder, although when it occurs in children, it is the mother who is always the affected parent. Molecular genetic techniques enable unequivocal diagnosis of the condition, evaluation of anticipation and the possibility of offering genetic counselling to the families involved.

Chromosome Aberrations

Adherence of Candida albicans strains isolated from AIDS patients. Comparison with pathogenic yeasts isolated from patients without HIV infection.

The adherence of yeasts to oral mucous cells is one of the main characteristics of the pathogenicity of this fungus. We studied adherence by means of a radiometric test to improve the method. We compared a sample of 40 strains of Candida albicans isolated from the buccal mucosa of HIV-infected patients with 40 strains isolated from non-HIV patients. We found that buccally isolated C. albicans strains from patients in the initial stages of AIDS adhered to oral mucous cells less than the buccally isolated C. albicans strains from subjects without HIV infection. Adherence among the strains of HIV patients increased with the disease stage until it exceeded that of the normal subjects in proportion to the decrease in the CD4/CD8 ratio. The selection of resistant strains by the preliminary antifungal treatments gave us a partial explanation for this increase. Further research should be carried out to compare these results with those obtained from atypical strains and species with high pathogenic potential, such as Candida dubliniensis, which is frequently isolated from advanced AIDS, in order to prevent systemic infections in these patients.

Acquired Immunodeficiency Syndrome

Effects of the novel multiple-action agent carvedilol on severe nephrosclerosis in renal ablated rats.

Antihypertensive drugs have differing effects on renal hemodynamics and morphology. We analyzed whether the use of a new beta adrenoceptor antagonist and vasodilator, carvedilol (CVD), slows the progression of nephrosclerosis and whether the renoprotective effect as well as reduction in cardiac hypertrophy is dependent on the degree of blood pressure reduction. Fifty-four adult male Sprague-Dawley rats were distributed among five groups: group I served as untreated controls with 5/6 nephrectomy (Nx); group II, sham (no renal ablation or drug treatment); group III, CVD 5 (5/6 Nx and treatment with oral CVD at 5 mg/kg/day); group IV, CVD 10 (5/6 Nx and treatment with oral CVD at 10 mg/kg/day); and group V, CVD 20 (5/6 Nx and treatment with oral CVD at 20 mg/kg/day). Tail-cuff blood pressure and 24-hr urine samples were obtained before and at 3, 5 and 11 weeks of treatment with CVD. At the end of the study period, blood was taken to measure serum creatinine, plasma renin activity and CVD levels, as well as the remnant kidney and heart for morphological studies. There was a significant reduction in 24-hr U(ProtV) in all the CVD-treated groups, and it was increasingly evident with the highest dose used. However, only rats receiving doses of 10 and 20 mg/kg/day of CVD exhibited significant decreases in blood pressure. Elevated serum creatinine levels seen in untreated controls were significantly decreased by CVD in treated rats (P < .01), indicating that glomerular filtration rate was improved by this drug. This was associated with a significant increase in U(NaV). Concomitant and significant (P < .01) decreases in plasma renin activity were observed in sham and CVD-treated rats. CVD-treated animals had considerably reduced renal damage (P < .01) and cardiac hypertrophy (P < .01) compared with untreated controls. These data indicate that CVD is effective in delaying progression of renal damage and provides beneficial effects in the remnant kidney and cardiac hypertrophy, even at nonhypotensive doses.

Adrenergic beta-Antagonists

Organochlorine pesticide residues in bovine milk from Leon (Spain).

Residue levels of the organochlorine pesticides (alpha-HCH, lindane, heptachlor-epoxide, aldrin, endrin, dieldrin, o,p'-TDE, p,p'-TDE, p,p'-DDE and p,p'-DDT) were determined in raw bovine milk and compared with the maximum levels allowed by the European Union (EU) in these foods. The highest incidence percentage of the ten insecticides measured was for lindane, followed by alpha-HCH and aldrin. Moreover, the highest mean residue level was for alpha-HCH. None of the samples analyzed exceeded the maximum levels allowed by the EU.

Animals

Autosomal location of a new subtype of 1.688 satellite DNA of Drosophila melanogaster.

During the screening of a Drosophila melanogaster YAC library with DNA from the minichromosome Dp(1;f)1187 we isolated a clone, yw20D5, which contains a new subtype of 1.688 satellite DNA. Although the sequences of several monomers subcloned from the YAC show a considerable variation in length, the derived consensus sequence is 356-bp long. This new subtype and the one constituted by the 353-bp repeats are both located on the left arm heterochromatin of chromosome 3, arranged in separate arrays. Despite their autosomal location, phylogenetic relationships among 1.688 satellite sequences suggest that they may have originated from the 359-bp repeats of the X chromosome heterochromatin. We have used the new 356-bp repeats to investigate whether sequences related to the 1.688 satellite are dispersed along the euchromatic arms of the autosomes in a similar way to that in which they are found along the X chromosome euchromatin.

Animals

[Cardiac angiosarcoma].

We report a case of a 29-year-old patient with recurrent hemorrhagic pericardial effusion secondary to a right atrial mass detected by transthoracic echocardiography. A more detailed anatomic study was provided by transesophageal echocardiogram and nuclear magnetic resonance imaging. During surgery, a biopsy confirmed the diagnosis of angiosarcoma. We discuss the contribution of echocardiography and other noninvasive methods to evaluate intracardiac tumors. A brief review of treatment and prognosis is made.

Adult

[Persistence of the left superior vena cava associated with aortic insufficiency: diagnostic and therapeutic considerations].

In the course of the routine evaluation of a 26-years-old male for acquired aortic valve disease the persistence of a left superior vena cava draining into the coronary sinus was detected. This is a frequent congenital malformation of the systemic venous system that has no hemodynamic consequences in itself, though it may be associated to other congenital or acquired cardiac malformations that may require surgery. The preoperatory detection of the anomaly prevents unexpected problems when connecting the cardiopulmonary bypass. We emphasize the importance of procedures that suggest the diagnosis and characterize the anatomo-functional nature of the condition--including transthoracic and transesophageal echocardiography using echocardiographic contrast, and cardiac catheterization with cardiac and vascular angiography.

Adult

[Hypertrophic myocardiopathy and ostium primum].

A 45-year-old male with palpitations and a heart murmur was investigated. Echocardiography and haemodynamic study revealed the presence of a ostium primum type interatrial communication with left-right shunting and asymmetric hypertrophic heart disease. There was no subaortic obstruction, but anterior systolic movement of the mitral valve was detected that did not contact with the interventricular septum--in part due to the paradoxical motion of the latter. The possible benefit of surgery in this infrequent association is discussed, and a review is made of the literature.

Cardiac Catheterization

[Left ventricular outflow obstruction due to accessory mitral tissue].

An asymptomatic 31-year-old woman was studied because she presented a systolic ejection cardiac murmur. The echocardiogram showed a mobile, sac-like mass attached to the ventricular surface of the anterior mitral leaflet and its chordae tendineae and papillary muscle. This structure moved to the left ventricular outflow tract during every systole occupying the subaortic area. Conventional and color-coded Doppler examination revealed left ventricular outflow obstruction caused by the accessory mitral valve tissue that produced a high-velocity turbulent flow pattern in the subaortic area where the sac-like structure approximated to the outflow tract walls.

Adult

[Fetal cardiac arrhythmia characterized by Doppler echocardiography].

A fetal arrhythmia was detected in a pregnant woman. Fetal Doppler-echocardiography did not reveal cardiac structural alterations; the Doppler flow velocity recordings at the level of the left ventricular outflow tract revealed the continuous succession of three cardiac cycles: a prolonged cycle (456 +/- 6 ms, mean of five measurements), a medium duration cycle (428 +/- 4 ms) and a short cycle (296 +/- 4 ms) after which the prolonged cycle repeated. Identification of the late ventricle filling phase of the atrial systole in the Doppler flow velocity waveform during the long and medium duration cycles, the detection of the systolic movement of the atrial walls preceding contraction of the ventricle walls during the shortest cycle and the verification that summation of the shortest and longest cycles was inferior to twice the intervening cycle, supported the idea that the arrhythmia was produced by frequent atrial premature contractions (one every two sinus beats). The fetal arrhythmia progressively disappeared during pregnancy until delivery without complications, and the newborn's ECG only revealed sporadic premature atrial contractions.

Adult

Large-volume paracentesis and intravenous saline: effects on the renin-angiotensin system.

Fourteen cirrhotic patients with tense ascites were treated with total paracentesis and intravenous isotonic saline infusion. Standard liver and kidney function tests, plasma renin activity and aldosterone concentration were measured before, at 48 hrs and at 7 days after total paracentesis. The volume of ascites removed was 7.7 +/- 5.6 l (mean +/- S.E.M.). None of the treated patients had clinical complications or significant alterations in liver or kidney function test results. Paracentesis and intravenous isotonic saline infusion were not associated with significant changes in mean plasma renin activity or plasma aldosterone concentration. These results suggest that this therapeutic procedure could be a safe and cost-effective alternative treatment of tense ascites in patients with cirrhosis.

Aged