Síndrome de hiper-IgM en miembros de 2 familias Chilenas no relacionadas: análisis genético- molecular / Hyper-IgM syndrome in members of two unrelated Chilean families: molecular and mutation analysis

BACKGROUND: Hyper-IgM syndronie (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrey bacterial infrctions, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. AIM: To make definitive diagnosis, detect mutations in carriers and perform genetic counseling in patients with HIGM. PATIENTS AND METHODS: We studied the expression of CD40L, CD40 and made a mutation analysis of the CD40L gene in 3 males of 2 unrelated Chilean families diagnosed as a possible syndrome of hyper-IgM and 3 relatives. RESULTS: We identified a deletion frameshift in the exon 2 (delA225) of the extracellular domain of GD40L gene in one patient and verified the carrier stains of his mother and sister. The other patients showed a low expression of GD40L in activated T cells (65.3% ammd 65.5%) and a normal expressiomi of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. CONCLUSIONS: These result allowed us to make a definite diagnosis of HIGM1 of a patient, detect female carriers and suggest a HIGM of recessive inheritance with normal CD40 expression in the patients of the second family.

[Importance of the deficit of crystallization inhibitors in the etiopathogenesis of urolithiasis]. / Importancia del deficit de inhibidores de la cristalización en la etiopatogenia de la urolitiasis.

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 neprholithiasis. PATIENTS AND METHODS: forty one 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. Twenty one subjects without a history of nephrolithiasis were used as controls. RESULTS: Patients with nephrolithiasis did not differ from controls in urinary calcium (159 +/- 67 and 172 +/- 67 mg/24 h respectively), uricosuria (417 +/- 171 and 431 +/- 121 mg/24 h respectively) or urinary magnesium (55 +/- 19 and 62 +/- 21 mg/24 h respectively, whereas urinary citrate was lower (219 +/- 172 vs 319 +/- 179 mg/24 h in controls p < 0.05). All patients had normal renal functions, urinary acidification and intravenous pyelogram. Seven percent of patients with nephrolithiasis had hypercalciuria, 2.4% had hyperuricosuria. 68.3% had a low urinary citrate and 44.4% 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.

[The professional profile of the physician]. / Perfil profesional del médico.

This article presents a study done to develop a professional profile of the physician based on the criteria of the medical faculty of the School of Medicine of Concepción University, Chile. It describes the methodology applied in the study and the results obtained organized under five heads: the personal qualities of the physician, professional ethics, professional competence, professional improvement, and the administrative aspects of the physician's work. The article stresses that constructing a professional profile is the most efficient way to organize the entire process of professional training and curriculum evaluation and that, therefore, every university should devise and continually revise the profiles of the professions in which it offers training.

Perfil profesional del médico / The professional profile of the physician

This article presents a study done to develop a professional profile of the physician based on the criteria of the medical faculty of the School of Medicine of Concepción University, Chile. It describes the methodology applied in the study and the results obtained organized under five heads: the personal qualities of the physician, professional ethics, professional competence, professional improvement, and the administrative aspects of the physician's work. The article stresses that constructing a professional profile is the most efficient way to organize the entire process of professional training and curriculum evaluation and that, therefore, every university should devise and continually revise the profiles of the professions in which it offers training (Au)

Perfil profesional del medico. / Professional profile of the physician

En este articulo se presenta un estudio tendiente a desarrollar el perfil profesional del medico segun los criterios del cuerpo docente medico de la Facultad de Medicina de la Universidad de Concepcion, Chile. Se expone la metodologia seguida en esta investigacion, asi como los resultados obtenidos agrupados en cinco categorias de rubros: los relacionados con las cualidades personales del medico, con la etica profesional, con la competencia profesional, con el perfeccionamiento profesional, y con las condiciones de tipo administrativo en que se desenvuelve el medico. En el trabajo se destaca que la determinacion del perfil profesional es la base mas racional para la organizacion de todo el proceso de formacion profesional y de la evaluacion del curriculo y que, por consiguiente, toda institucion formadora de profesionales debe desarrollar y readecuar en forma continua los perfiles profesionales de las respectivas carreras universitarias que imparte