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Biomedical subjects

E Arteaga

Publications and source records attributed to E Arteaga.

At least 19 recordsLinked to original sources
PubMed2006

New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus.

UNLABELLED: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome inherited in an autosomal dominant trait caused by the inactivation of the tumor suppressor gene MEN1. OBJECTIVE: To communicate a family with a new heterozygous germ line mutation in the intronic region of MEN1 gene and to study its influence in the menin expression. PATIENTS AND METHODS: We studied 5 members of a family with symptomatic hyperparathyroidism (HPT). One of them had also a neuroendocrine pancreatic tumor, and 2 had non-functional multinodular cortical adrenal hyperplasia compatible with the diagnosis of MEN1. After the mutation was identified, HSP92II restriction enzyme was used to determine both zygosity and segregation of the mutation. RT-PCR from leukocyte's isolated mRNA and western blot from pancreatic tumor tissue were performed. In vitro studies were done in Chinese hamster ovary (CHO) cells transfected with reporter minigenes carrying the coding regions spanning exon (EX)-intron 9 and EX10 with the mutant and the wild type sequences. RESULTS: We identified a heterozygous G-to-T substitution in the intron-EX junction (IVS9-1 G>T) of MEN1 gene in the index case and the family members. The mRNA from patient's leukocytes was larger (934 bp) in comparison to the normal transcript (717 bp). Immunoblot analysis demonstrated that wild type (67 kDa) and two additional mutant proteins (approximately 55 and approximately 90 kDa) were expressed in the pancreatic tissue. The in vitro study showed a 45% nuclear localization of the mutated menin signal and a 95% in the wild type protein. CONCLUSIONS: We identified a new intronic heterozygous germ line mutation (IVS9-1G>T) of MEN1 gene in a family affected by MEN1 syndrome. This mutation alters the splice acceptor site of intron 9 that promotes an incorrect splicing, generating aberrant proteins without the nuclear localization signals necessary for the normal menin translocation to the nucleus.

Adult↗
PubMed2005

Total relief of severe left ventricular outflow obstruction after spontaneous rupture of chordae tendineae in a patient with hypertrophic cardiomyopathy.

In hypertrophic cardiomyopathy (HCM), rupture of mitral chordae tendineae is infrequent and causes acute haemodynamic deterioration. A 38 year old male patient had chordae rupture leading to prolapse of both mitral leaflets and severe regurgitation, without change in symptomatic status. One year before, he had had mild mitral regurgitation and a resting left ventricle outflow tract of 105 mm Hg that disappeared in the present evaluation. In this unique case, worsening of mitral regurgitation was counterbalanced by total relief of the severe obstruction. This case report highlights the role of the mitral valve apparatus in the genesis of obstruction in HCM, further stimulating surgical techniques in which mitral repair can be the main procedure.

Adult↗
PubMed2004

Ethinylestradiol/cyproterone acetate in polycystic ovary syndrome: lipid and carbohydrate changes.

OBJECTIVE: Ethinylestradiol (EE) combined with the antiandrogenic progestin cyproterone acetate (CPA) is a possible treatment in polycystic ovary syndrome (PCOS). We investigated the impact of EE/CPA on lipid and carbohydrate metabolism in women with PCOS,who were otherwise healthy. METHOD: The 31 women were separated into two groups paired by body mass index (BMI): Group A (control, n = 15) were cycled with 10 mg medroxyprogesterone acetate (MPA) x 10 days (Provera, Pharmacia & Upjohn) every month for 3 months; Group B (n = 16) were treated with 35 microg EE/2 mg CPA (Diane 35, Schering) for 3 months. Metabolic and hormonal conditions were similar in both groups. RESULTS: Group A showed no change in any hormone or metabolic parameter. Group B showed a significant decrease in free androgen index (-81%) and increase in sex hormone binding globulin (+ 639%), a decrease in low density lipoprotein cholesterol (-14%) and total cholesterol/high density lipoprotein (HDL) cholesterol index (-19%), and increases in HDL cholesterol (+ 23%) and triglycerides (+ 82%) (p < 0.001). Fasting insulin increased in 18%, the glucose/insulin index worsened in 8%, and the plasma glucose disappearance worsened in 12%, with no statistical significance (p= 0.092, p=0.308 and p= 0.237, respectively). CONCLUSION: Treatment of PCOS with EE/CPA induces important favorable changes regarding hormone parameters associated with hyperandrogenism, significant favorable changes in lipid profile except for triglyceride increase, and no significant change in carbohydrate metabolism (measured by fasting insulin, glucose/insulin index and plasma glucose disappearance). MPA cycling does not change any of these parameters.

Administration, Oral↗
PubMed2004

Phytoestrogens possess a weak antioxidant activity on low density lipoprotein in contrast to the flavonoid quercetin in vitro in postmenopausal women.

BACKGROUND: Phytoestrogens are a family of plant-derived compounds with weak estrogenic and antiestrogenic properties. The antioxidant capacity of phytoestrogens has been proposed as one of the important mechanisms that explain their health benefits. OBJECTIVE: To determine the in vitro potency of three phytoestrogens, ubiquitous in food, (biochanin A, daidzein and genistein) as antioxidants of low density lipoprotein (LDL) and to compare them with the well-established antioxidant actions of estradiol and quercetin, an ubiquitous flavonoid which is found in high concentration in onions, tea and berries. METHODS: LDL was isolated by ultracentrifugation from the plasma of ten healthy postmenopausal women who were not on hormone therapy. Aliquots containing 0.5 mg of protein were incubated for 4 h with CuSO4 15 micromol/l to induce oxidative stress and with one of the five compounds studied: estradiol, quercetin, biochanin A, daidzein, and genistein, in doses of 0, 5, 15, 50, 500, 1000 and 2000 micromol/l. In addition, we studied the combined effect of estradiol 1 micromol/l plus quercetin 1 micromol/l, comparing their antioxidant action with that of each compound separately. Malonaldehyde (MDE nmol/ mg protein) was measured as a marker of LDL oxidation. RESULTS: Estradiol and quercetin induced a dose-dependent decrease in MDE concentration (p < 0.01). Comparing the areas under the curve, the antioxidant effect of quercetin was 8 times higher than the one observed with estradiol (p < 0.01). A 50% decrease in MDE was reached by quercetin at a concentration of 3.4 micromol/l, estradiol at 29 micromol/l, genistein at 280 micromol/l, biochanin at 1312 mmol/l and daidzein at 8007 mmol/l. Estradiol 1 micromol/l and quercetin 1 micromol/l did not modify MDE generation separately, but, when incubated combined, there was a significant decrease of MDE (p < 0.02). CONCLUSION: The phytoestrogens studied showed a weak antioxidant activity in vitro. The flavonoid quercetin, in contrast, showed the most potent antioxidant activity in vitro, higher than estradiol. Estradiol and quercetin showed additive antioxidant activity. We speculate that different compounds with variable antioxidant effects could amplify their antioxidant capacity when acting combined.

Antioxidants↗
PubMed2001

Primary neoplasms of the heart. Clinical and histological presentation of 50 cases.

OBJECTIVE: To analyze clinical and histologic findings of 50 patients with primary neoplasms of the heart in a tertiary referral center. METHODS: From 1980 to 1998, we retrospectively analyzed 50 patients, 32 of whom were females, whose ages ranged from 9 to 73 years (mean age = 44.16+/-18 years). RESULTS: Most tumors were located in the left side of the heart (72%), myxoma being the most common (84%) histologic type. The other histologic types found were as follows: fibroma (4%), lipoma (2%), rhabdomyosarcoma (2%), hemangioma (2%), sarcoma (2%), angiosarcoma (2%), and lymphoma (2%). Diagnosis was established by echocardiography in 94% of the cases. Clinical findings were as follows: dyspnea (36%), weight loss (20%), palpitations (18%), chest pain (16%), fever (8%), and arthralgia (6%). All patients with thromboembolic phenomena (10%) had left atrial myxoma. Approximately 20% of the patients were asymptomatic at the initial clinical assessment. CONCLUSION: Primary cardiac tumors are a rare entity with diverse clinical and histologic findings, requiring, therefore, a high level of clinical suspicion.

Adolescent↗
PubMed2001

Chagas' heart disease: evolutive evaluation of electrocardiographic and echocardiographic parameters in patients with the indeterminate form.

OBJECTIVE: To identify and associate potential electrocardiographic and echocardiographic changes in patients with the indeterminate form of Chagas' disease during long-term follow-up. METHODS: One hundred sixty patients underwent standard electrocardiography and two-dimensional guided M-mode echocardiography for left ventricular ejection fraction determination. Patients were followed up for 98.6+/-30.4 months, undergoing repeat electrocardiographic studies at 6-month intervals and echocardiographic studies at 12-month intervals. RESULTS: Based on the electrocardiographic findings, the patients were divided into group I, 125 patients (78.6%) with normal electrocardiograms throughout follow-up, and group II, 34 patients (21.3%) who developed electrocardiographic changes. Group II was further divided into group IIA (9 patients, 5.6%) with permanent electrocardiographic changes, group IIB (14 patients, 8.8%) with transitory electrocardiographic changes, and group IIC (11 patients, 6.9%) with changes appearing only on the final electrocardiogram. Left ventricular ejection fractions remained normal in the entire population studied and did not differ among groups. CONCLUSION: The indeterminate form of Chagas' disease clearly represents a benign condition with a favorable long-term prognosis. Although some patients develop electrocardiographic changes, left ventricular systolic function is well preserved.

Adolescent↗
PubMed2001

[Familial and isolated primary hyperparathyroidism. Case report].

Familial hyperparathyroidism can be a part of a type 1 or 2 multiple endocrine neoplasia syndrome, can be associated to mandibular fibromas or can appear as an isolated disease. We report a family with 11 members affected by a primary hyperparathyroidism, all with a history of kidney stones and without evidences of other endocrine tumors. Not knowing the familial history of the disease, only one adenoma was resected in four cases and in all, the disease recidivated. Two were operated again, performing a total parathyroidectomy and heterologous autotransplantation of parathyroid tissue in the forearm. The presentation form of primary hyperparathyroidism in this family, is similar to other reported cases. It is more aggressive, is diagnosed at a lower age has a higher incidence of recurrence and multiglandular involvement than the sporadic disease.

Adult↗
PubMed2000

Maximal functional capacity in patients with Chagas' cardiomyopathy without congestive heart failure.

BACKGROUND: Chagas' disease is a known dilated form of cardiomyopathy. However, a great number of patients, although showing electrocardiographic (ECG) well-recognized changes, maintain normal ventricular chamber dimensions and are asymptomatic. The aim of the present study was to objectively characterize functional capacity in asymptomatic patients with Chagas' disease and normal left ventricular function. METHODS AND RESULTS: Eighteen asymptomatic male patients with Chagas' disease, aged 33+/-6 years, were selected for the study. All showed ECG changes typical of the disease, as well as left ventricular fractional shortening (LVFS) greater than 0.30 on M-mode 2-dimensionally guided echocardiography. Twenty sedentary normal male patients, aged 29+/-6 years, served as controls. Both groups were submitted to ergoespirometry testing for assessment of exercise functional capacity. Patients with Chagas' disease, when compared with controls, showed lower (P < .001) maximal O2 consumption (VO2max, 24.3+/-4.2 v 37.0+/-5.4 mL x kg(-1) x min(-1) respectively); O2 pulse rate (PO2max, 10.5+/-1.4 v 15.1+/-2.5 mL/beat, respectively); maximal ventilation (VEmax, 50.1+/-13.5 v 113.0+/-17.6 L x min(-1), respectively); anaerobic threshold of maximal O2 consumption (VO2-AT, 15.8+/-3.6 v 24.6+/-4.7 mL x kg(-1) x min(-1), respectively); and maximal heart rate (HRmax, 154+/-21 v 186+/-7 beat x min(-1), respectively). CONCLUSIONS: Asymptomatic patients with Chagas' disease, although presenting normal left ventricular systolic function at rest, display a substantial impairment of exercise functional capacity.

Adult↗
PubMed1999

Persistent hypokalemia after successful adrenalectomy in a patient with Cushing's syndrome due to ectopic ACTH secretion: possible role of 11beta-hydroxysteroid dehydrogenase inhibition.

Ectopic ACTH secretion is characterized by a high incidence of hypokalemia. The pathophysiology of hypokalemia has not been totally clarified, although it has been postulated that excessive amounts of adrenal steroids may play a role, as well as a possible role of the inhibition of the enzyme 11beta-hydroxysteroid dehydrogenase (11beta-OHSD). This enzyme normally converts cortisol to cortisone avoiding the mineralocorticoid action of cortisol. We present a patient with ectopic ACTH secretion due to a metastatic carcinoid tumor. The clinical picture was characterized by maintained hypokalemia (1.4 mmol/l) resistant to potassium, spironolactone and ketoconazole administration. A bilateral adrenalectomy was performed but the hypokalemia persisted while he was receiving a physiological dose of cortisol. Eight days after adrenalectomy cortisol was replaced by an equivalent dose of dexamethasone. This change was followed by a rapid and persistent normalization of hypokalemia suggesting a mineralocorticoid effect of cortisol. In conclusion, the origin of hypokalemia in our patient with ectopic ACTH secretion was secondary to cortisol. We postulate that this peculiar effect of cortisol could have happened if an inhibition of 11beta-OHSD occurred.

11-beta-Hydroxysteroid Dehydrogenases↗
PubMed1999

Management of aortic dissection that involves the right coronary artery.

A report on the follow-up of 11 patients who suffered from aortic dissection involving the right coronary artery and who underwent surgical treatment is reported. In two patients, the left coronary ostia was also affected. In seven patients, the dissection was acute and in four, chronic. The ascending aorta was substituted by a Dacron graft in all patients, and right coronary artery saphenous vein bypass or Gore-Tex graft to the coronary ostia or right coronary artery was performed in nine, and reimplantation of both dissected coronary in two. There were three early postoperative deaths (27.3%) caused by low-output syndrome and myocardial infarction. There were two late deaths. The six surviving patients were followed-up from 78 to 96 months (mean 83 months). This experience suggests that although carrying a high risk, the involvement of the coronary ostia in aortic dissection can be successfully managed if made before irreversible complications arise.

Acute Disease↗
PubMed1999

Neoplastic pericardial disease. Analysis of 26 patients.

PURPOSE: To characterize patients with neoplastic pericardial disease diagnosed by clinical presentation, complementary test findings, and the histological type of tumor. METHODS: Twenty-six patients with neoplastic pericardial disease were retrospectively analyzed. RESULTS: Clinical manifestations and abnormalities in chest roentgenograms and electrocardiograms were frequent, but were not specific. Most patients underwent surgery. There was a high positivity of the pericardial biopsy when associated with the cytological analysis of the pericardial liquid used to determine the histological type of the tumor, particularly when the procedure was performed with the aid of pericardioscopy. CONCLUSION: The correct diagnosis of neoplastic pericardial disease involves suspicious but nonspecific findings during clinical examination and in screen tests. The suspicious findings must be confirmed through more invasive diagnostic approaches, in particular pericardioscopy with biopsy and cytological study.

Adult↗
PubMed1999

Detection and genetic relationship of dengue virus sequences in seventeen-year-old paraffin-embedded samples from Cuba.

This study describes the use of the reverse transcriptase-polymerase chain reaction (RT-PCR) to generate dengue 2 amplicons from paraffin-embedded autopsy tissues collected in Cuba 17 years ago. The presumptive diagnoses had been made only by clinical evolution without serologic confirmation. This study confirms once again that dengue 2 virus was directly associated with the fatal cases in children and illustrates the potential of the RT-PCR for retrospective diagnosis of dengue cases 17 years after death. A close similarity in the genomic sequences of the dengue 2 RNA detected in tissue samples from fatal cases and those dengue 2 Cuban strains that had been previously investigated confirms the appropriate genomic classification of the etiologic agent associated with the 1981 dengue hemorrhagic fever Cuban epidemic.

Amino Acid Sequence↗