Browsing by Author "Foradori, A"

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    Correlation between phenotype and genotype in a group of patients with cystic fibrosis
    (2002) Navarro, H; Kolbach, M; Repetto, G; Guirales, E; Harris, P; Foradori, A; Poggi, H; Sanchez, I
    Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Trains membrane Regulator (CFTR). The DeltaF508 mutation is present in 60% of alleles studied worldwide. Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done. Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. Results: A mutation was found in 75% of analyzed alleles. DeltaF508 was present in 50% of cases (DeltaF508/DeltaF508 in 8 and DeltaF508/other in 11). When DeltaF508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W1282X and G542X were related to clinical manifestations similar to those found in DeltaF508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium dens and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutation, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.
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    Evidences for mineralocorticoid excess in essential hypertension
    (2000) Cortes, P; Fardella, C; Oestreicher, E; Gac, H; Mosso, L; Soto, J; Foradori, A; Claverie, X; Ahuad, J; Montero, J
    Background: Primary hyperaldosteronism is more frequent among subjects with essential hypertension than previously thought. The prevalence, according to local and international evidence could fluctuate between 9 and 10%. Aim: To investigate if subjects with essential hypertension have different aldosterone and renin plasma levels than normotensive subjects. Patients and methods: One hundred twenty five subjects with essential hypertension, not receiving medications for a least two weeks prior to the study and 168 age and sex matched normotensive controls were studied. Blood was drawn between 9 and 10 AM during a sodium free diet to determine plasma aldosterone, plasma renin activity and potassium. Results: Plasma aldosterone was higher in hypertensive subjects than controls (11.6 +/- 7.6 and 9.9 +/- 5.1 ng/dl respectively; p = 0.04). Plasma renin activity was lower in hypertensives than controls (1.42 +/- 1.28 and 1.88 +/- 1.39 ng/ml/h respectively; p < 0.001). Thus, plasma aldosterone/plasma renin activity ratio was higher in hypertensives (13.8 +/- 13.5 and 8.3 +/- 7.8; p < 0.001), A pathological ratio was defined as over 25, corresponding to the mean plus two standard deviations of the control group. Primary hyperaldosteronism was found in 5/125 hypertensives (4%) and 1/168 normotensive subject (0.6%). None had hypokalemia. Conclusions: Subjects with essential hypertension have higher plasma aldosterone and lower plasma renin activity than normal controls. A plasma aldosterone/plasma renin activity over 25 was defined as abnormal.
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    High prevalence of thyroid abnormalities in a Chilean psychiatric outpatient population
    (2000) Fardella, C; Gloger, S; Figueroa, R; Santis, R; Gajardo, C; Salgado, C; Barroilhet, S; Foradori, A
    The aim of the present study was to establish the prevalence of thyroid disturbances in patients consulting for panic and mood disorders. These data may be relevant because thyroid functional alterations affect the success of treatment in these pathologies. We studied prospectively 268 psychiatric outpatients (204 females and 64 males) diagnosed by DSM-IV criteria. We excluded patients with addictive disorders and major medical disease. We measured TSH, Free T4 (FT4) and antimicrosomal antibodies (AMA). We diagnosed classical hypothyroidism when the TSH value was >10 mu UI/ml (NV=0.25-4.3) and subclinical hypothyroidism when the TSH value was between 5-10 mu UI/ml. Hyperthyroidism was diagnosed when FT4 >1.4 (NV=0.81.4), the TSH suppressed and the radioiodine uptake >20% (NV=5-15). Positive antimicrosomal antibodies (AMA) titres were >1:100 dilution. Hypothyroidism was diagnosed in 26/268 patients (9.7%); 10 cases corresponded to the classical form (38.5%) and 16 cases to the subclinical form (61.5%). Hyperthyroidism was found in 6/268 patients (2.2%). Normal thyroid function with positive AMA was found in 28/268 patients (10.4%). Hypothyroidism was more common in patients with mood disorders, and hyperthyroidism in patients with panic disorders. Patients with panic disorder had significant higher levels of FT4. The prevalence of positive AMA, hypothyroidism and hyperthyroidism was higher in women than men. We found a high frequency of thyroid abnormalities in a psychiatric outpatient population. These data suggests that routine evaluation of thyroid function should be considered in patients consulting for mood and panic disorders. (J. Endocrinol. Invest. 23: 102-106, 2000) (C)2000, Editrice Kurtis.
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    Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
    (ENDOCRINE SOC, 1998) Fardella, CE; Poggi, H; Pineda, P; Soto, J; Torrealba, I; Cattani, A; Oestreicher, E; Foradori, A
    The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%). The most frequent findings were the gene deletion or large gene conversion (LGC) = 22.9%, I2 splice = 19%, R357W = 12.7%, and Q319X = 10.5%. We did not find alleles with the mutation F308insT and we found three alleles with the cluster E6. The frequency of the point mutation R357W was at least two times more frequent than the one found in Caucasians populations, but similar to that communicated in Asian populations; this finding may be explained by the Asian ancestry of our South-Amerindian population. The frequency of Q319X was also high, similar only to those patients studied in Italy and in a neighboring Argentinian population. In summary, this is a genetic characterization of 21OHD made in an almost pure Hispanic population in Latin America. The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.
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    The A-6G mutation in the angiotensinogen gene is associated to high levels of aldosterone in essential hypertensives
    (1999) Fardella, C; Zamorano, P; Gomez, L; Oestreicher, E; Pinto, M; Rojas, A; Montero, J; Soto, J; Mosso, L; Foradori, A
    The treatment of papillary thyroid carcinoma of less than 10 mm diameter is a matter of controversy. The incidental finding of papillary microcarcinomas in autopsies is frequent and some authors postulate that these tumors are biologically inactive and should only be observed. We report a 21 years old woman with a papillary thyroid cancer of 6x5x5 mm and bilateral paratracheal metastases, that was subjected to a total thyroidectomy. She received 200 mCi of radioiodine. Two years after surgery, a new nodule of 9.6 mm diameter was detected by ultrasound, that was treated with a new dose of 200 mCi of radioiodine. One year later a suprasternal mass of 2 cm diameter and 3 enlarged lymph nodes were detected. She was subjected to a surgical lymph node dissection of the neck and the biopsy confirmed the presence of cancer. She received a new dose of 300 mCi of radioiodine. The mother of the patient had a 7 mm thyroid nodule that was also a papillary carcinoma.
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    Urinary kallikrein excretion in the human menstrual cycle, normal pregnancy and lactation
    (PARTHENON PUBLISHING GROUP, 1998) Valdes, G; Corthorn, J; Oyarzun, E; Berrios, C; Foradori, A; Germain, AM; Villarroel, L
    Objectives To evaluate the temporal pattern of active and total urinary kallikrein excretion during the menstrual cycle, pregnancy and lactation, and to associate changes in kallikrein excretion with those of ovarian and placental hormones.
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    Y chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma
    (FREUND PUBLISHING HOUSE LTD, 2003) Mancilla, EE; Poggi, H; Repetto, G; Rumie, H; Garcia, H; Ugarte, F; Hidalgo, S; Jara, A; Muzzo, S; Panteon, E; Torrealba, I; Foradori, A; Cattani, A
    The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences.