Miocardiopatía tirotóxica grave: consideraciones a propósito de un caso clínico / Severe thyrotoxic myocardiopathy: report of one case

We report a previously healthy 43 years old male, that one year ago presented with a hyperthyroidism, treated with metimazole and radioiodine. Two months after receiving the latter, he was admitted to the hospital for dyspnea, tachycardia and chest pain. An atrial fibrillation with a frequency of 190 beats per minute was found. During hospital stay, the patient suffered a cardiogenic shock that recovered. The patient was discharged five days after admission. During follow up, there was a progressive reduction of cardiac symptoms.

Una reflexión ética desde la práctica clínica sobre los exámenes y procedimientos de ayuda diagnóstica / An ethical reflection from clinical practice on the examinations and diagnostic support procedures

El acto médico por excelencia es la atención del paciente; este es un proceso complejo, marcado por la relación entre dos personas en razón de una enfermedad que agrede a una de ellas y que la otra pretende aliviar. En este marco de peculiaridad existen directrices comunes en la relación médico paciente y que tienen que ver con la ética. Normalmente la atención se inicia con la historia o anamnesis, para seguir con el examen físico y luego con la solicitud de exámenes de laboratorio o procedimientos de diversa índole cuya finalidad es sustentar la hipótesis diagnóstica y permitir iniciar una acción terapéutica adecuada. Esta última parte, la de la ayuda tecnológica, requiere atención porque allí pueden generarse omisiones o desviaciones del recto proceder. El método de análisis se desarrolla contrastando los príncipios básicos de la ética: beneficencia, no maleficencia, justicia y autonomía con los distintos elementos envueltos en el acto de solicitar exámenes de ayuda diagnóstica. Para facilitar la reflexión, la petición de exámenes se desglosa, en: a) selección de los test; b) petición o solicitud propiamente tal; c) direccionamiento del paciente y d) análisis y comunicación de resultados. Cada uno de estas etapas requiere atención porque, muchas veces tras el automatismo con que se ejecutan se malogran algunos de estos principios éticos. Estas reflexiones pretenden hacer presente estas zonas de conflicto. La repercusión ética puede hacerse más compleja cuando el acto médico de petición de exámenes se realiza bajo el prisma de la enseñanza de la medicina.

The essential medical action is patient care. This is a complex process, in which one subject tries to relieve another, that suffers an illness. This particular relationship is governed by ethical principles. Medical care starts with history taking, followed by physical examination and the request of laboratory tests to confirm a diagnostic hypothesis and provide an appropriate treatment. When laboratory tests are requested, a series of ethical issues can arise. The basic ethical principles of avoiding harm, beneficence, non maleficence, justice and autonomy must be taken into account at the moment of requesting laboratory tests. The stages of this act can be divided in selection of the adequate test, requesting them, educating the patient and finally the analysis and communication of results. Each of these stages, if carried out automatically and without a proper discern, can violate some of the above mentioned ethical principles. The ethical repercussions can become more complex if these medical acts are done while teaching medicine.

Una reflexión ética, desde la práctica clínica, sobre los exámenes clínicos y los procedimientos de apoyo diagnóstico / Ethic reflection from the medical practice, about the diagnosis procedures

El acto médico por excelencia es la atención del paciente; este es un proceso complejo, marcado por la relación entre dos personas en razón de una enfermedad que agrede a una de ellas y la otra pretende aliviar. En este marco de peculiaridad existen directrices comunes en la relación médico paciente y que tienen que ver con la ética. Normalmente la atención se inicia con la historia o anamnesis, para seguir con el examen físico y luego con la solicitud de exámenes de laboratorio o procedimientos de diversa índole cuya finalidad es sustentar la hipótesis diagnóstica y permitir iniciar una acción terapéutica adecuada. Esta última parte, la de la ayuda tecnológica, requiere atención porque allí puede haber omisiones o desviaciones del recto proceder. El método de análisis se desarrolla contrastando los principios básicos de la ética: Beneficencia, No maleficencia, Justicia y Autonomía con los distintos elementos envueltos en el acto de solicitar exámenes de ayuda diagnóstica. Para facilitar la reflexión, la petición de exámenes se desglosa, en: a) selección de los test; b) petición o solicitud propiamente tal; c) direccionamiento del paciente y d) análisis y comunicación de resultados. Cada uno de estas etapas requiere atención porque, muchas veces tras el automatismo con que se ejecutan se malogran algunos de esos principios éticos. Estas reflexiones pretenden hacer presente estas zonas de conflicto. La repercusión ética puede hacerse más compleja cuando el acto médico de petición de exámenes se realiza bajo el prisma de la enseñanza de la medicina

The essential medical action is patient care. This is a complex process, in which one subject tries to relieve another, that suffers an illness. This particular relationship is governed by ethical principles. Medical care starts with history taking, followed by physical examination and the request of laboratory tests to confirm a diagnostic hypothesis and provide an appropriate treatment. When laboratory tests are requested, a series of ethical issues can arise. The basic ethical principles of avoiding harm, beneficence, non maleficence, justice and autonomy must be taken into account at the moment of requesting laboratory tests. The stages of this act can be divided in selection of the adequate test, requesting them, educating the patient and finally the analysis and communication of results. Each of these stages, if carried out automatically and without a proper discern, can violate some of the above mentioned ethical principles. The ethical repercussions can become more complex if these medical acts are done while teaching medicine

Enfermedad de von Hippel Lindau en una familia chilena: diagnóstico clínico y genético / Von Hippel Lindau disease: report of an affected family

Von Hippel Lindau disease is a hereditary syndrome characterized by the appearance of benign and malignant tumors in different organs. Its incidence is 1 case per 36000 born alive. We report a family with the disease. The index case was a male with a bilateral pheochromocytoma and cerebelar and retinal hemagioblastomas that had a sudden death due to a cerebrovascular accident at the age of 52 years. One sibling had central nervous system and retinal hemangioblastomas and other was operated for an unilateral pheochromocytoma. Both siblings had the R167Q VHL mutation of the syndrome. Other family members did not have the mutation.

Hiperplasia suprarrenal no clásica, características clínicas y genéticas / Clinical and genetic features of non classical adrenal hyperplasia

Background: The non classical form of congenital adrenal hyperplasia (NCAH) is increasingly recognized inhyperandrogenic patients, with variable phenotypic expression. Aim: To determine the clinical, hormonal, andgenetic characteristics of a group of patients with NCAH. Patients and methods: The medical records of 57NCAH patients were retrospectively reviewed. The diagnosis was established by basal or post-ACTH-stimulation 17-hydroxyprogesterone (17-OHP) levels >7 ng/mL and > 15 ng/mL, respectively. Patients with post-ACTH 17-OHP levels between 10-15 ng/mL, and with one identified allele o without genetic tests, were consideredas heterozygous. Genotyping for 10 mutations was performed by PCR. Results: The average age of diagnosis was 12.4 +/- 0.9 years. Six patients were male. Pubarche and hirsutism were the clinical signs more frequently described in patients below 10 years of age (25/29) and over 10 years of age (11/24), respectively. A basal 17-OHP > 7 ng/mL was observed in 36 patients; the post ACTH 17-OHP was between 10-15 and > 15 ng/mL in 5 and 17 patients, respectively. Genotype analyses were performed in 38 patients. V281L was carried on approximately 68.4 percent of all alleles and 29 percent of patients carried severe mutations. Only one of five possible carrier patients, was diagnosed as NCAH after the genetic test (V281L/ In2splice). Conclusions: Males with NCAH were apparently sub-diagnosed. Pubarche and hirsutism were the more frequently reported signs. The genetic test is complementary in the diagnosis of NCAH. One third of the patients carried a classic mutation and could have an increased risk to have siblings with Classical CAH.

Hiperplasia suprarrenal macronodular bilateral independiente de ACTH: caso clínico / ACTH independent bilateral macronodular adrenal hyperplasia: report of one case

ACTH Independent cushing syndrome, involving both adrenal glands, represents a minority of endogenous hyperadrenocorticisms and is caused by infrequent diseases. ACTH independent macronodular adrenal hyperplasia (AIMAH) is one of them and is caused by aberrant cortical adrenal receptors expression that are able to stimulate cortisol secretion. We report a 62 years old male, presenting with hypertension, weight gain, urinary lithiasis and osteopenia. The diagnosis of Cushing's syndrome was made with a morning cortisol level after 1 mg nocturnal dexamethasone of 8.2 ug/dL. Urinary free 24 hour cortisol levels were normal, circadian rhythm of cortisol was maintained and ACTH was <5 pg/mL. Abdominal magnetic resonance imaging showed bilateral nodular adrenal enlargement. The functional study, looking for abnormal receptors, showed a potent cortisol secretory response after stimulation with vasopressin.

Resistencia a la hormona tiroidea y embarazo: caso clínico / Thyroid hormone resistance syndrome and pregnancy: case report

Thyroid hormone resistance syndrome is a genetic disease determined by a mutation that modifies the configuration of the beta thyroid hormone receptor, affecting its T3 binding capacity. Increased T3 and T4, determined by a compensatory TSH elevation secondary to pituitary resistance, allows an euthyroid functional state in most of the cases. The coexistence of pregnancy and thyroid hormone resistance is uncommon. Therefore, the optimal diagnosis and treatment strategy has not been determined. We report a 32 years old woman with thyroid hormone resistance, that became pregnant. During her pregnancy, she wassupplemented with levothyroxine in doses of 50 to 60 ug/day and remained euthyroid. Fetal development and growth were normal.

El tamaño de los tumores suprarrenales ¿está en relación al tiempo de evolución o expresa una diferencia biológica? / Is adrenal tumor size related to evolution time or does it represent a biological difference?

Background: Adrenal tumor (AT) malignancy has been related to tumor size. Since laparoscopic surgery is being used, smaller adrenal tumors are being excised. Aim: To evaluate eventual clinical and histológica! differences between adrenal tumors smaller than 4 cm. and those larger than 6 cm. Patients and Methods: Retrospective review of pathological reports and clinical records of patients operated for adrenal tumors, dividing them in two groups. Group 1 had 29patients aged 52 ± 13 years with AT < 4 cm operated during the period 2000-2005, and Group 2 was formed by 52 patients aged 46 ±18 years with AT >6 cm operated between 1984-2005- Tumors between 4 and 6 cm were not included in the study to establish clear cut differences between groups. Results: Tumors were functional in 40 and 41 percent of cases in groups 1 and 2 respectively. Fifty percent of functional tumors of group 1 were pheochromocytomas and the rest secreted aldosterone. In group 2, 66 percent of tumors were phechromocytomas and no aldosterone secreting tumors were found. Fifty two and eight percent of tumors in Groups 1 and 2 were adenomas, respectively (p <0.001). Nineteen tumors of group 2 were malignant, compared with one of group 1 (p <0.001). Conclusions: The tumor size of adrenal cortical tumors may represent biological differences, suggesting two different tumor populations. At time of diagnosis adrenal carcinomas are almost always larger than 6 cm.

Características de presentación del microcarcinoma papilar del tiroides. Experiencia retrospectiva de los últimos 12 años / Pathological characteristics of thyroid microcarcinoma. A review of 402 biopsies

Background: Thyroid microcarcinoma is a tumor of 10 mm or less, that should have a low risk of mortality. However, a subgroup of these carcinomas is as aggressive as bigger tumors. Aim: To describe the pathological presentation of these tumors, and compare them with larger tumors. Material and methods: All pathological samples of thyroid carcinoma that were obtained between 1992 and 2003, were studied. In all biopsies, the pathological type, tumor size, the focal or multifocal character, the presence of lymph node involvement and the presence of lymphocytic thyroiditis or thyroid hyperplasia, were recorded. Results: One hundred eighteen microcarcinomas and 284 larger tumors were studied. The mean age of patients with microcarcinoma and larger tumors was 42.7±14 and 49.3±16 years respectively (p <0,001) and 83% were female, without gender differences between tumor types. Mean size of microcarcinomas was 8.6 mm and 116 (98%) were papillary carcinomas. Of these, 109 (94%) were well differentiated and seven (6%) were moderately differentiated. Thirty six (31%) were multifocal and in 10 (8,6%), there was lymph node involvement. The mean size of larger tumors was 23.8 mm and 241 (85%) were papillary carcinomas. Of these, 200 (83%) were well differentiated, and 41 (17%) were moderately differentiated. Eighty five (35%) were multifocal and in 44 (18%) there was lymph node involvement. The prevalence of thyroiditis and hyperplasia was significantly higher among microcarcinomas than in larger tumors (15 and 2.5%, respectively, p <0.001, for the former; 32.4 and 1.7%, respectively, p <0.001, for the latter). Conclusions: In this series, one third of microcarcinomas were multifocal and 10% had lymph node involvement. Therefore, the aggressiveness of these tumors is higher than what is reported in the literature and they should be treated with total thyroidectomy.

Importancia del déficit de inhibidores de la cristalización en la etiopatogenia de la urolitiasis / Importance of crystallization inhibitors deficit in the etiopathogenic of urolithiasis

Background: five percent of consultations at the emergency room of Catholic University Hospital are due to nephrolithiasis. The causes of this high frequency remain unknown. Aim: to know the main metabolic and anatomic factors involved in the genesis of nephrolithiasis. Patients and methods: 41 patients (31 male) were studied presenting with a renal colic were studied as soon as the acute episode subsided and without diet modifications. Fasting blood calcium and creatinine and 24 h urine calcium, uric acid, citrate, magnesium and pH were measured and an intravenous pyelogram was performed. 21 subjects without a history of nephrolithiasis were used as controls. Results: Patients with nephrolithiasis did not differ from controls in urinary calcium (159 ñ 67 and 172 ñ 67 mg/24 h respectively), uricosuria (417 ñ 171 and 431 ñ 121 mg/24 h respectively) or urinary magnesium (55 ñ 19 and 62 ñ 21 mg/24 h respectively, whereas urinary citrate was lower (219 ñ 172 vs 319 ñ 179 mg/24 h in controls p <0.05). All patients had a normal renal functions, urinary acidification and intravenous pyelogram. Seven percent of patients with nephrolithiasis had hypercalciuria, 2.4 percent had hyperuricosuria, 68.3 percent had a low urinary citrate and 44.4 percent had low urinary magnesium. Conclusions: in this sample, there is a strong association of nephrolithiasis with low levels of crystallization inhibitors in special with urinary citrate, a crystallization inhibitor