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Biomedical subjects

M T Muñoz

Publications and source records attributed to M T Muñoz.

41 records · Page 3Linked to original sources

Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy.

A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated GH deficiency (IGHD) have been delineated based on the mode of inheritance and the degree of GH deficiency, with IGHD type IA being the most severe. A 2 year-old girl, the second child of consanguineous parents, with short stature was diagnosed with IGHD type IA. The analysis of the genomic DNA of this patient, performed by polymerase chain reaction (PCR) amplification of the flanking regions of the GH-1 gene, showed a homozygous deletion of 7.0 kb of sequence including the GH-1 gene. She was treated with biosynthetic GH resulting in long-lasting catch-up growth during at least three years, despite a clinically irrelevant appearance of low binding capacity GH antibodies. Growth hormone-binding protein (GHBP) levels were normal at the time of diagnosis. In addition, GHBP plasma levels did not show any significant change during the three years of therapy with GH. Diagnosis of carrier status in family relatives was done by genotyping GH gene alleles by PCR amplification from blood spots on filter paper.

Antibodies↗

[The Fuenlabrada's study: tobacco as cardiovascular risk factor in children and adolescents].

Smoking habits were studied in 1,274 healthy adolescents of both sexes, aged 10 to 18 years, of Fuenlabrada, Madrid. It was known by personal interview. 30% of the population were smokers. Smoking habits increased with age up to 18 years when 63% of males and 53% of females were smokers. Smoking prevalence was significantly higher among males than in females. Males and females smokers had significantly lower levels of C-HDL and higher levels of C-LDL/C-HDL ratio than non smokers. No differences were observed for anthropometric variables, body mass index, blood pressure, skin-fold thickness, total cholesterol, glucemia and uric acid. The implications of these findings are of concern in light of the apparently protective role of C-HDL in coronary heart disease. These findings provide valuable information to the promotion of antismoking campaigns in adolescent age.

Adolescent↗

[The Fuenlabrada study: lipids and lipoproteins in children and adolescents].

Lipids and lipoproteins were studied in 2,153 healthy children, of both sexes, aged 0 to 18 years old, of Fuenlabrada, Madrid, population. We determined: Total Cholesterol (TC) and Triglycerides (TG) by automatized enzymatic techniques. C-HDL by precipitation method. C-LDL and C-VLDL were calculated by Friedewald-Fredrickson equation. Our laboratory have previously standardized the techniques of obtention of TC, TG and C-HDL using serums of reference. Mean values were: TC = 166 +/- 36 mg/dl, TG = 63 +/- 39 mg/dl, C-HDL = 53 +/- 13 mg/dl, C-LDL = 102 +/- 34 mg/dl, C-VLDL = 13 +/- 6 mg/dl. In our population 14% had TC greater than or equal to 200 mg/dl, 2.6% TG greater than or equal to 140 mg/dl and 15% C-HDL less than or equal to 40 mg/dl. During adolescence a significant change in the lipid and lipoprotein pattern in both sexes was observed. At the end of the adolescence, males had C-HDL lower and TG, C-LDL and C-VLDL higher than females. Correlations and associations of lipids and lipoproteins were similar in our population than in adult population. The mean finding of this study is the actual high level of TC in our children population.

Adolescent↗

Risk factors for cervical intraepithelial neoplasia grade III/carcinoma in situ in Spain and Colombia.

A case-control study of 525 histologically confirmed cases of cervical intraepithelial neoplasia grade III and 512 controls was done in Spain and Colombia to assess the role of various risk factors taking into account the effect of human papillomavirus (HPV). The presence of HPV DNA, assessed by a polymerase chain reaction-based method, was the strongest risk factor identified. In Spain the adjusted odds ratio (OR) and 95% confidence interval (CI) (numbers in parentheses) were 56.9 (24.8-130.6) and, in Colombia, were 15.5 (8.2-29.4). In addition to HPV, the multivariate analysis revealed independent effects of early age at first intercourse (in Spain ORa, 4.3; 95% CI, 2.0-9.3 for ages < 17 versus 20+ years and in Colombia ORa, 9.0; 95% CI, 2.6-30.9 for ages < 14 versus 20+ years), and antibodies to Chlamydia trachomatis (in Spain ORa, 2.3; 95% CI, 1.1-4.5; and in Colombia ORa, 1.7; 95% CI, 1.1-2.7). High parity showed a significant effect only in Colombia (ORa, 2.0; 95% CI, 1.0-5.0 for > or = 6 versus 1) while number of partners of the woman and specially of her husband showed a strong effect in Spain only (ORa, 6.9; 95% CI, 3.1-15.3 for partners of the husband > or = 21 versus 1-5). Smoking and use of oral contraceptives did not show significant or consistent associations. Among HPV-DNA positive women early age at first intercourse and high parity increased the risk of cervical intraepithelial neoplasia III but the effect was statistically significant only for the former.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗