[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review]. / Cardiopatías congénitas asociadas a los síndromes cromosómicos más prevalentes: revisión de la literatura.

Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.

Colitis ulcerosa: caso clínico y revisión del tema / Ulcerative colitis: clinical case and literature review

Paciente sexo femenino de 39 años, con antecedentes de colitis ulcerosa y en tratamiento con azulfidina 500 mg cada 8 horas desde el 2007, ingresó por cuadro de 5 días de evolución de disentería y compromiso del estado general. Al ingreso en Urgencia se encontraba hemodinámicamente estable, pálida, hidratada límite y al examen físico con sensibilidad abdominal difusa, sin otras alteraciones; en el laboratorio presentaba anemia, leucocitosis e hipokalemia moderada. Se manejó en sala de pacientes agudos con régimen cero, hidratación endovenosa y corticoides en dosis elevadas (hidrocortisona 300mg/día ev), obteniendo buena respuesta clínica con cese de cuadro diarreico y realimentación oral bien tolerada. La Enfermedad inflamatoria Intestinal (Colitis Ulcerosa y Enfermedad de Crohn) es una inflamación crónica y patológica del intestino, de etiología aún desconocida y con periodos de remisión y actividad. Los pacientes portadores de Colitis Ulcerosa con remisión de la enfermedad pueden presentar crisis, con reagudización de sus síntomas, incluso con riesgo vital según su gravedad. Dentro de la terapia de rescate de estos pacientes, se cuenta con dosis elevadas corticoides que han demostrado eficacia en inducir la remisión de la crisis asociado a acido 5 aminosalicilico (mesalaziria) y si no responden se puede usar ciclosporina. En la mantención de la remisión la terapia que se indica es acido 5 aminosalicilico puro o asociado a sulfas y los inmunosupresores como azatioprina, existen nuevos fármacos actualmente disponibles a nivel internacional, como los anticuerpos antiTN F.

Hepatotoxicidad por drogas: reporte de un caso y revisión de literatura / Drug-induced liver injury: a case report and literature review

La Hepatotoxicidad por drogas se define como una lesión hepática asociada a deterioro de la función de éste órgano, secundaria a exposición a una droga u otro agente no infeccioso. Es un cuadro infrecuente, pero puede determinar graves lesiones hepáticas y una mortalidad considerable si no se detecta a tiempo. Es labor del clínico mantener un alto Índice de sospecha al enfrentarse a un paciente con alteraciones hepáticas de reciente comienzo y uso concomitante de medicamentos. En el presente articulo se expone el caso clínico de un paciente masculino, 48 años de edad, con Depresión Severa en tratamiento con Sertralina, Clonazepam, Risperidona, Lamotrigna y Acido Valproico. Ingresó al Hospital de Talca con diagnostico de Síndrome Colestásico cuyo estudio demostró serología para VHB y VHC negativa y ecotomografía abdominal normal. Presentó buena respuesta clínica y de laboratorio a la suspensión de las drogas. El cuadro fue compatible con Hepatotoxicidad por drogas.

Polymorphism in the matrix metalloproteinase-2 gene promoter is associated with cervical neoplasm risk in Mexican women.

Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity on matrix proteins, and previous studies have revealed a strong association between the MMP-2 -1306C-->T polymorphism and the risk of several types of cancer. Our study looked at whether this polymorphism contributed to the development of cervical neoplasia by analyzing 54 patients with invasive squamous cell cervical cancer, 100 patients with cervical intraepithelial neoplasia, and 126 control subjects. The MMP-2 CC genotype was more frequent in the cancer patients when compared with the control group (OR 2.57; 95% CI 1.15-5.86). The association of cervical cancer with the CC genotype was more pronounced in women who had first coitus at an early age (OR 3.96; 95% CI 1.46-11.06). The CC genotype was associated with intraepithelial neoplasia only in women with first coitus at 19 years old or younger. The data suggest that the MMP-2 -1306C-->T polymorphism contributes to the development of squamous cell cervical cancer in the population studied, especially in women who had first coitus at an early age.

Matrix metalloproteinase-2 promoter polymorphism is associated with breast cancer in a Mexican population.

BACKGROUND: Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity on matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism C>T transition at -1306 displayed a strong association with several cancers. Our study investigated whether or not the MMP-2 -1306C>T polymorphism contributed to the development of breast cancer (BC) in a Mexican population. METHODS: 90 patients with BC and 96 control subjects were analyzed to detect MMP-2 -1306C>T polymorphism. RESULTS: The frequency of MMP-2 CC genotype was significantly higher in BC patients when compared with the control group (OR 2.15; 95% CI 1.1-4.1). MMP-2 CC genotype frequency was more pronounced in younger subjects (< or =50 years) at diagnosis (OR 2.66; 95% CI 1.04-6.96). CONCLUSION: The data suggest that MMP-2 -1306C>T polymorphism strongly contributes to the development of BC in the population studied, especially among women 50 years old and younger.

[Percutaneous puncture and drainage previous to elective surgical resection of a pheochromocytoma presenting as a retroperitoneal abscess: report of one case]. / Feocromocitoma: punción y drenaje percutáneo precirugía en un caso que se presentó como absceso retroperitoneal.

We report a 57 year-old woman with a big partially cystic adrenal pheochromocytoma presenting with high fever and abdominal pain. Based on CT scan images and before knowing urinary catecholamines level, the diagnosis of sepsis secondary to an abscessed adrenal macrotumor was done. A diagnostic percutaneous fine-needle puncture and aspiration was done and antibiotic therapy was started. One week later an open surgical drainage and installation of percutaneous drainage tubes was carried out. Both procedures were uneventful and the patient improved dramatically. Three months later a definitive excision surgery was done. After 14 months of follow up, the patient is in excellent conditions and her abdominal CT scan is normal.

[Hypocalcemic cardiomyopathy secondary to hypoparathyroidism after a thyroidectomy: report of one case]. / Miocardipatías hipoclacémica secundaria a hipoparatiroidismo postiroidectomía: caso clínico.

Calcium plays a central role in ventricular function. We report a 37 year-old woman with chronic hypoparathyroidism and hypocalcemia secondary to a thyroidectomy performed when she was 18 years old, as treatment for a Graves Basedow's disease. She did not have previous cardiac symptoms and rapid progressive congestive heart failure developed after the beginning of levothyroxin supplementation for post operative hypothyroidism. Echocardiography revealed severe systolic and diastolic left ventricular dysfunction, mitral and tricuspid valve insufficiency, systolic pulmonary hypertension, left atrial enlargement and pericardial effusion. Calcium supplementation in addition to diuretics, captopril and digoxin were followed by rapid clinical improvement. Follow up until 18 months showed persistent left ventricular dilatation and systolic dysfunction, with improvement of all the other echocardiographic findings.

[Consensus report on the diagnosis and management of non palpable thyroid nodules]. / Consenso de diagnóstico y manejo de los nódulos tiroideos no palpables.

With the availability of new diagnostic techniques, numerous alterations are found, whose real importance for health is uncertain. The term <>, is used for non apparent tumors found in diagnostic procedures. In Endocrinology, the incidental finding of thyroid nodules is common. The occurrence of those incidental nodules requires a review of the <> statements for the management of palpable nodules. The most important issue is to rule out the presence of cancer. The Chilean Society of Endocrinology, Metabolism and Nutrition appointed a group of experts to generate a consensus on tbe management of non palpable nodules. These experts reviewed international literature, and the local experience, analyzed the value of thyroid ultrasound examination and the efficiency of fine needle aspiration biopsy. This consensus is a clinical guide for the management of non palpable thyroid nodules, considering that a unique and optimal approach is still lacking.