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1.
Rev Med Chil ; 129(12): 1365-72, 2001 Dec.
Article in Spanish | MEDLINE | ID: mdl-12080873

ABSTRACT

BACKGROUND: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of G alpha s protein with a mosaic distribution. AIM: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. PATIENTS AND METHODS: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. RESULTS: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. CONCLUSIONS: The R201H mutation can be detected in white blood cells, in approximately 70% of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells.


Subject(s)
Cafe-au-Lait Spots/genetics , Fibrous Dysplasia, Polyostotic/genetics , Leukocytes , Puberty, Precocious/genetics , Adolescent , Case-Control Studies , Child , DNA Mutational Analysis , Female , Humans , Male , Polymerase Chain Reaction , Syndrome
2.
Hum Reprod ; 14(10): 2485-92, 1999 Oct.
Article in English | MEDLINE | ID: mdl-10527974

ABSTRACT

The expression of integrin molecules alpha1beta1, alpha4beta1 and alphaVbeta3 within endometrial tissue has been proposed as a marker of uterine receptivity during the implantation window. The present investigation examines by flow cytometric analysis the concentrations of alpha1, alpha4, alphaV and beta3 integrin subunits in endometrial stromal (ESC) and epithelial cells (EEC) in two groups of women throughout the menstrual cycle: normal fertile women (n = 27) and women with unexplained infertility (n = 26). Integrin concentrations in endometrial cells were calculated in relative fluorescence units against a negative cellular control. The assessment of integrin subunits detected the protein in ESC and EEC from the late proliferative to the late secretory phase. In both groups of women, the alpha1 was the highest integrin expressed in ESC and EEC throughout the menstrual cycle. All women exhibited low concentrations of alpha4-EEC at the time of the implantation window. Infertile women expressed lower concentrations of the alpha4-ESC during the proliferative and early secretory phase while lower concentrations of the alpha1-ESC were seen during the late secretory phase. Interestingly, the infertile women expressed lower concentrations of beta3-EEC in the early, mid-secretory and late secretory phases (P < 0.05). Infertile women also expressed lower concentrations of alpha1-EEC and alphaV-EEC during the late secretory phase (P < 0.05). It can be concluded that the quantitative determination of beta3-EEC by flow cytometry confirmed its potential feature as a marker of endometrial receptivity at the time of the implantation window. In addition, the defective expression of the alpha1-ESC found in the late secretory phase might be associated with the poor fertility outcome of women with unexplained infertility.


Subject(s)
Endometrium/metabolism , Fertility/physiology , Flow Cytometry , Infertility, Female/metabolism , Integrins/metabolism , Menstrual Cycle/physiology , Adult , Evaluation Studies as Topic , Female , Humans , Immunohistochemistry
3.
J Pediatr Endocrinol Metab ; 9(6): 561-7, 1996.
Article in English | MEDLINE | ID: mdl-9004170

ABSTRACT

The hormonal profile in 47 small for gestational age (SGA) term newborns during their first year of life was studied. The newborns had a mean birth weight of 2290 +/- 230 g and a length of 45.5 +/- 2.0 cm, and they were followed up every month. Serum IGF-I, IGF-II, and urinary growth hormone (u-GH) concentrations were measured at 3 days of age and every 3 months during one year. Serum IGFBP-3 levels were measured at 3 and 6 months of age. Catch up growth (CUG) was defined as an increase in length z score greater than 1 SD between birth and 6 months of age. According to this definition, 27 infants (57.4%) experienced CUG. We compared the hormonal profile of the infants who demonstrated evidence of CUG [CUG(+)] with those who did not [CUG(-)]. Serum IGF-II levels were significantly higher in CUG(+) infants compared to CUG(-) infants at 3 months of age. We did not find any differences in serum IGF-I, IGFBP-3 and urinary GH between CUG(+) and CUG(-) infants at any time during the study.


Subject(s)
Human Growth Hormone/urine , Infant, Small for Gestational Age/growth & development , Infant, Small for Gestational Age/physiology , Insulin-Like Growth Factor II/metabolism , Insulin-Like Growth Factor I/metabolism , Birth Weight , Body Height , Female , Humans , Infant, Newborn , Insulin-Like Growth Factor Binding Protein 3/blood , Male
4.
J Clin Endocrinol Metab ; 80(10): 2997-3001, 1995 Oct.
Article in English | MEDLINE | ID: mdl-7559887

ABSTRACT

Acute suppression of SRIH secretion with a beta-adrenergic antagonist can increase the GH response to GHRH. To determine whether chronic beta-blockade could enhance the growth-promoting effects of GHRH therapy, we conducted a double blind, placebo-controlled, randomized, cross-over trial of coadministration of the selective beta 1-antagonist atenolol together with GHRH in 11 GH-deficient children. In randomly chosen order, each patient received two 12-month treatment periods with a single daily injection of GHRH (20 micrograms/kg, sc, at bedtime), plus daily oral administration of either atenolol (1 mg/kg) or placebo. The growth velocity increased, rising from a mean +/- SD of 2.6 +/- 0.4 cm/yr before treatment to 5.4 +/- 1.0 cm/yr during the first year of treatment with GHRH plus placebo and to 6.8 +/- 1.2 cm/yr during the first year of treatment with GHRH plus atenolol. The mean growth velocity during treatment with GHRH plus atenolol was significantly greater than that observed during GHRH plus placebo (P < 0.05). After cross-over, however, during the second year of therapy, we did not observe any significant differences in growth velocity between the two groups (4.2 +/- 1.4 vs. 3.9 +/- 0.8 cm/yr during treatment with GHRH plus placebo and GHRH plus atenolol, respectively). The mean 24-h serum GH levels were 1.4 +/- 0.9 micrograms/L during the baseline period, 1.3 +/- 0.2 and 2.0 +/- 1.4 micrograms/L during the first year of GHRH plus placebo and GHRH plus atenolol, respectively (P = NS), and 2.7 +/- 1.4 and 1.4 +/- 0.4 micrograms/L during the second year of GHRH plus placebo and GHRH plus atenolol, respectively (P < 0.05). This is the first demonstration that alteration of neurotransmitter action can enhance the therapeutic response to a hypothalamic releasing factor.


Subject(s)
Adrenergic beta-1 Receptor Antagonists , Adrenergic beta-Antagonists/therapeutic use , Atenolol/therapeutic use , Growth Disorders/drug therapy , Growth Hormone-Releasing Hormone/therapeutic use , Growth Hormone/deficiency , Body Height , Child , Child, Preschool , Cross-Over Studies , Double-Blind Method , Female , Follow-Up Studies , Growth/drug effects , Growth Disorders/physiopathology , Growth Hormone/blood , Growth Hormone/metabolism , Humans , Male , Placebos , Receptors, Adrenergic, beta-1/physiology , Time Factors
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