Scielo RSS <![CDATA[Revista médica de Chile]]> https://scielo.conicyt.cl/rss.php?pid=0034-988720100001&lang=es vol. 138 num. 1 lang. es <![CDATA[SciELO Logo]]> https://scielo.conicyt.cl/img/en/fbpelogp.gif https://scielo.conicyt.cl <![CDATA[<b>Nacimiento anómalo de las arterias coronarias en 10.000 pacientes adultos sometidos a coronariografía</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100001&lng=es&nrm=iso&tlng=es Background: Between 0.3 and 1.3% of coronary arteries, have anomalous origins. Circumflex artery has the higher frequency of anomalies. Aim: To study the frequency of congenital anomalous origins of coronary arteries among adult patients subjected to a coronary angiography. Material and Methods: Analysis of reports of 10,000 coronary angiographies performed in a clinical hospital. Patients with congenital heart disease were excluded. Results: One hundred twenty nine patients (1.3%), aged 59 ± 12years (70% males) had congenital anomalies in the origin of coronary arteries. The most common anomaly was the origin of right coronary artery from the left coronary sinus in 75%, followed from the origin of circumflex artery from the right side in 20%o. No association between origin anomalies and atherosclerosis or aortic valve disease, was observed. Conclusions: In this series of patients, origin anomalies of coronary arteries were not associated with aortic valve disease or atherosclerosis, differing from other published reports. Right coronary artery had the highest frequency of anomalies. <![CDATA[<b>Alta frecuencia de anticuerpos anti-tiroperoxidasa (ATPO) positivos en sujetos adultos, sin patología tiroidea conocida, de Santiago de Chile</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100002&lng=es&nrm=iso&tlng=es Background: Anti-thyroid peroxidase antibodies have a pathogenic role in Hashimoto thyroiditis. Between 10 and 19% of individuals without thyroid disease, have positive titers of these antibodies. Aim: To study the frequency of positive titers of anti-thyroid peroxidase antibodies in healthy individuals. Material and Methods: A blood sample, to measure anti-thyroid peroxidase antibodies and thyroid stimulating hormone (TSH) by chemoluminiscense assay, was obtained from 67women and 62 men aged 45 ± 14years, without a personal or familiar history of thyroid diseases and normal thyroid palpation. The cutoff point of the manufacturer to consider positive a titer of anti-thyroid peroxidase antibodies was set at 35 IU/ml. Results: Twenty-eight women and 28 men had positive antibody titers (43% of the sample). Subjects in the upper tercile of anti-thyroid peroxidase antibody titers had a higher TSH than those in the second tercile, although within normal limits (1.73 ± 0.74 and 1.37 ± 0.59 mlU/L, respectively p = 0.02) Conclusions: Forty three percent of the studied subjects without personal or familial history of thyroid diseases had positive titers of anti-thyroid peroxidase antibodies. Further prospective studies should evaluate whether this observation discloses an increase in thyroid autoimmune disease in a population with increased iodine intake. <![CDATA[<b>Evolución de la oferta de médicos. </b><b>Chile</b><b> 1993-2008</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100003&lng=es&nrm=iso&tlng=es There is a significant increase in the physician availability in Chile in the last 15 years, due to the immigration of foreign physicians, but mainly due to the increasing number of graduates from private universities with medical schools. In the last four years, the number of physicians increased from 25.542 to 29.996 and the number of graduates, from 918 to 1.136. These figures show a nearly exponential growth. The number of physicians/number of beneficiaries' ratio increased from 1/630 to 1/569 in the last four years, due to the greater increase in the number of physicians than in the number of inhabitants. The future will show a similar trend in this ratio. The specialist/general practitioner ratio remains practically the same, as the number of physicians/beneficiaries ratio in the public system. The oversupply of physicians should alert authorities about the inconvenience in creating new medical schools and a careful plan of relationship between the offer and demand of medical services. <![CDATA[<b>Asociación entre actividad física en tiempo libre con sobrepeso en adultos sanos</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100004&lng=es&nrm=iso&tlng=es Background: Television viewing (TV viewing) is an important indicator of physical inactivity. Aim: To analyze the prevalence of different leisure time behaviors and TV viewing among healthy adults and their association with overweight. Material and Methods: Cross sectional survey in which 1061 females and 925 males aged 30 years old or more, answered a self administered questionnaire about physical activity Respondents were classified according to frequency participation in sports, walking, cycling and TV viewing. Body mass index (BMI) was derived from self reported weight and height. Results: Less than 30% of individuals participated regularly in sports and less than 15 and 5% reported a high frequency of walking and cycling, respectively. Subjects regularly engaged in sports had a lower BMI. After adjustments, low cycling frequency and high TV viewing were associated with overweight in men and women, respectively. Conclusions: The prevalence of physical inactivity during leisure time is high among Brazilian adults and associated to obesity.<hr/>Ver televisión tiene una estrecha asociación con sedentarismo. Objetivo: Evaluar las actividades de tiempo libre de adultos sanos y el hábito de ver televisión y su asociación con sobrepeso. Material y Métodos: Estudio de corte transversal en el cual 1.061 mujeres y 925 hombres de 30 años de edad y mas contestaron una encuesta auto administrada acerca de actividad física en tiempo libre. Los sujetos fueron clasificados de acuerdo a la frecuencia con que practicaban deportes, caminaban, andaban en bicicleta y veían televisión. El índice de masa corporal (IMC) se calculó utilizando el peso y talla que los sujetos informaron tener. Resultados: Menos del 30% de los individuos practicaban deportes regularmente y menos del 15 y 5% informaron caminar o andar en bicicleta frecuentemente. Los individuos que practicaban deportes en forma regular tenían un IMC menor. Después de ajusfar los datos, una baja frecuencia de ciclismo y una alta frecuencia de ver televisión, se asociaron con sobrepeso en hombres y mujeres, respectivamente. Conclusiones: Existe una asociación entre falta de actividad física recreativa y sobrepeso en este grupo de adultos. <![CDATA[<b>El financiamiento público de la investigación en salud en Chile</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100005&lng=es&nrm=iso&tlng=es Background: In Chile, researchers can apply to public research funds through specific research projects and must compete with other professionals of other disciplines. Aim: To perform a critical assessment of the allocation of public funds for health research in Chile by a public institution called CONICYT. Material and Methods: A database was constructed with health projects financed by CONICYT, between 2002 and 2006. Projects were classified (according to their titles) in three methodological categories and nine topics. Age, gender and region where the main researcher is based, were also recorded. Results: 768 research projects were analyzed. Biomedical, clinical and public health research projects accounted for 66, 24 and 10% of allocated funds, respectively. Main researchers were female in 31 % of projects, their mean age was 52 years and 76% worked in the Metropolitan region. Conclusions: These results show that some objectives of the National Research System lead by CONICYT, such as using research as a tool for regional development and allocating funds for conditions with a large burden, are not been met. <![CDATA[<b>Déficit de vitamina B-12 en adultos mayores: ¿Un problema de salud pública en Chile?</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100006&lng=es&nrm=iso&tlng=es Background: There is a correlation between aging and the decrease of plasma levels of vitamin B-12. Aim: To determine the prevalence of vitamin B-12 and folate deficiency and its hematological impact among older adults (AM). Material and Methods: Cross-sectional study, in 1028 subjects aged 65 to 87years, living in community and evaluated between 2005 and 2008. Percentile distribution of vitamin B-12, folate, hemoglobin, packed red cell volume and mean cell volume by gender and age were analyzed. Deficiency was defined as vitamin B-12 levels < 148 pmol/L, marginal deficiency as vitamin B-12 levels < 221 pmol/L, anemia was defined as a hemoglobin < 13 and 12 g/dL among men and women, respectively. Results: The prevalence of vitamin B-12 deficiency was 12% and the figure for marginal deficiency was 25.4%. Males were more affected than females (p < 0.001). The frequency of anemia was 8.6%o, and was higher among women (p = 0.004). Conclusions: There is a high prevalence of full blown and marginal deficit of vitamin B-12 among the elderly. This deficiency should be considered for correction through public nutrition policies. <![CDATA[<b>Cáncer de la unión gastroesofágica</b>: <b>Evaluación de los resultados quirúrgicos, sobrevida alejada y factores pronósticos en enfermos con terapia resectiva</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100007&lng=es&nrm=iso&tlng=es Background: The long-term survival of adenocarcinoma of the esophago-gastric junction is poor and depends on the possibility of performing a complete surgical excision and the absence of lymph node involvement. Aim: To report surgical results and survival of patients with adenocarcinoma of the esophago-gastric junction. Material and Methods: Retrospective review of medical records of patients with adenocarcinoma of the esophago-gastric junction, subjected to a curative surgical procedure between 2000 and 2008. Deaths that occurred within 60 days of the operation were considered operative mortality. Tumor stage was determined using TNM and Siewert pathological classifications. Results: Thirty-nine patients aged 40 to 80years (27 men), were operated. According to Siewert classification, seven patients had type I, six type II and 26 type III tumors. Twenty-two patients were subjected to a total gastrectomy with partial excision of distal esophagus and mediastinal reconstruction, 10patients were subjected to a trans-hiatal esophagectomy and seven to a total esophagogastrectomy. According to postoperative staging, five patients were in stage I, 12 in stage II, nine in stage III and 13 in stage IV. Median, three and five year's survival figures were 21.4 months, 33 and 25%, respectively. Lymph node and perineural involvement was associated with a lower survival. Well differentiated and stage I tumors had a better survival. Multivariate analysis showed that the presence of a type III tumor, N3 lymph node involvement and vascular permeation were independent predictors' ofa lower survival. Conclusions: Among patients with adenocarcinoma of the esophago-gastric junction, type III tumors, lymph node involvement and vascular permeations are associated with a lower survival. <![CDATA[<b>Tendencia del desarrollo puberal en escolares de la Región Metropolitana de Chile: Menor edad de presentación, mayor duración y dimorfismo sexual en la estatura</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100008&lng=es&nrm=iso&tlng=es Background: There is a worldwide tendency towards an earlier appearance of puberal development among children, associated with an increase in weight and height. Aim: To study the trends in puberal development in Chilean school age children, between the years 1986 and 2001 and correlate it with weight and height changes. Subjects and Methods: In two representative samples of school age children, collected between years 1985 and 1987 (m-1986) and another between years 2000 and 2002 (m-2001), girls between 7 and 15years (958 and 935, respectively) and boys between 9 and 15 years (842 and 870 respectively), were selected. Breast development (B) in females and genital development (G) in males were classified according to Tanner stages. Weight, height, body mass index (BMI) and nutritional status (according to Centers for Disease Control/ National Center for Health Statistics (CDC/NCHS) standards) were assessed. Results: The prevalence of obesity increased four fold between 1986 and 2001. The 2001 generation had a significantly higher degree of puberal development than their counterparts studied in 1986. Compared to m-1986, m-2001 subjects had a lower mean age at puberal development stage two and three, but no differences at puberal stages 4 and 5. BMI of m-2001 subjects was significantly higher than that of m-1986 subjects at all puberal stages. The m-2001 males showed highest stature than m-1986 in all puberal stage, however, in females there is no difference in height between m-2001 and m-1986. Conclusions: The highest BMI observed in the cohort of 2001, could be facilitating an earlier puberal development and ethnic factors could explain the sexual dimorphism in stature. <![CDATA[<b>Síndrome de obstrucción intestinal distal en pacientes adultos con fibrosis quística</b>: <b>Casos clínicos</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100009&lng=es&nrm=iso&tlng=es Distal Intestinal Obstruction Syndrome (DIOS) has a 16% incidence among patients with Cystic Fibrosis (CF). It is characterized by an intestinal obstruction secondary to fecal impaction in distal ileum or cecum. We report two adult patients with DIOS. A female with CF and subjected to lung transplantation at the age of 13 years old. Five years later, she consulted for an intestinal obstruction. She was treated conservatively with a good clinical evolution. She had a new episode of DIOS eight months later that was also treated conservatively. A 31 year-old mole, subjected to bilateral lung transplantation nine years before, that was admitted to the hospital for a bronchiolitis. Three days after admission he started with an intestinal obstruction that was diagnosed as a DIOS. He was managed conservatively with a good clinical response. <![CDATA[<b>Síndrome de Stewart-Treves</b>: <b>Caso clínico</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100010&lng=es&nrm=iso&tlng=es Angiosarcomas are malignant tumors derived from the endothelium of blood vessel (hemangiosarcomas) or lymph vessels (lymphangiosarcomas). Lymph edema of the limbs is considered secondary when extrinsic injuries are observed and primary when these injuries are not present. Stewart-Treves syndrome or a Lymphangiosarcoma, developed over a chronic lymph edema, is a rare complication described in mastectomized patients but it can be observed in lymph edemas located elsewhere. It appears as nodular skin lesions that grow, multiply quickly and frequently metastasize. We report a 40-year-old mole with an angiosarcoma associated with primary chronic lower limb lymph edema. The patient consulted for a history of weight loss and malaise and appearance of violaceous lesions over the zone of lymph edema and inguinal lymph node involvement. A CT scan showed bilateral lung lesions and enlargement of inguinal and iliac lymph nodes. A biopsy of one of the skin lesions disclosed an angiosarcoma, diagnosis that was confirmed with immuno-histochemistry Chemotherapy was started but the patient died five months after the diagnosis. <![CDATA[<b>Melanoma primario del esófago tratado con esofagectomía</b>: <b>Casos clínicos</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100011&lng=es&nrm=iso&tlng=es Esophageal melanomas correspond to 0.1 to 0.2% of esophageal tumors. We report two patients with the disease. The first patient is a 51 year-old woman pre-sentingwith dysphagia and weight loss. An upper gastrointestinal endoscopy showed a polypoid ulcerated lesion in the middle third of the esophagus. The pathological study ofthe biopsy disclosed a malignant melanoma. The patient was subjected to an esophagectomy with a satisfactory postoperative evolution. Four months later, liver metastases were detected and the patient died eleven months after the operation. The second patient is a 59 year-old mole that consulted by dysphagia. An endoscopy showed a pigmented esophageal lesion whose pathological diagnosis was a malignant melanoma. The patient was subjected to an esophagectomy and sixteen months after surgery there was no evidence of relapse. <![CDATA[<b>Aneurisma de la arteria pulmonar en Enfermedad de Behçet</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100012&lng=es&nrm=iso&tlng=es Behçet disease is a systemic disease with diverse clinical symptoms which vary according to the organs and systems involved. Typically, patients have oral and genital ulcers and episodic ocular involvement with periods of clinical improvement. We report an 18-year-old mole presenting with chest pain and hemoptysis and a history of ulcers in the oral cavity and scrotum. A chest CAT scan showed a mass located adjacent to the heart that a pulmonary arteriography defined as a left pulmonary artery aneurism. The patient was operated, excising left inferior pulmonary lobe. Due to skin and ocular involvement, the patient complied with criteria for Behçet disease. Immunosuppressive treatment with prednisone and azathioprine was started and the patient was discharged from the hospital. <![CDATA[<b>Análisis confirmatorio para la prueba AEQ-III en Bucaramanga, Colombia</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100013&lng=es&nrm=iso&tlng=es Background: The Alcohol Expectancy Questionnaire-III (AEQ-III) test evaluates positive expectations towards alcohol consumption. Aim: To perform a confirmatory factorial analysis of the AEQ-III test. Material and Methods: During 2006-2008, 1199 adults between 18 and 60years old (588 males) answered a survey that included socio-economic variables and the AEQ-III test to determine alcohol consumption and its consequences. A factorial analysis was performed and the goodness off it of the final model was assessed. Results: "Increase in expressivity and sexuality", "decrease in physical tension", "lack of inhibition and feelings of power" and "decrease in psychological tension" were the four confirmed dimensions. This model differs of others applied in the region, has 22 variables and adjusts well. Values for median quadratic approximation error, Tucker- Lewis Index, normal adjustment index and goodness off it were 0.07, 0.93 and 0.92, respectively. The variance explained by the model increased from 62% in the exploratory to 76% in the confirmatory analysis. Infernal consistency in the exploratory and confirmatory models was 0.85 and 0.87. Conclusions: Two confirmed dimensions correspond to group behaviors and the others, to individual behaviors. All indices of relevance of grouping variables, goodness off it and parsimony were maintained and even improved and are generally optimal. <![CDATA[<b>Sindecanos: Su potencial uso diagnóstico y pronóstico en cáncer de próstata</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100014&lng=es&nrm=iso&tlng=es Syndecans, a family of heparan sulphate proteoglycans that are present in the cellsurface are involved in the control o fcel lproliferation, apoptosis and transfor-mation. Syndecans 1 and 2 have a central role in processes such as position control, invasion, angiogenesis and metastases ofseveral types of cáncer The expression of Syndecan 1 in epithelial cells, decreases when cells are transformed and acquire invasive properties. This decreased expression is associated to a bad prognosis. Syndecan 2, originally described in mesenchymal cells, favors cell apoptosis, increa-ses angiogenesis and controls the death of cáncer cells subjected to chemotherapy Both syndecans are present in basal and epithelial cells of prostate cancer Their lower expression is associated to more undifferentiated tumors. Disturbances in the expression and subcellular location of syndecans predict the relapse of localized tumors. Syndecans 1 and 2 can be considered tumor suppression genes and can be targetsfor new treatments. The detection of circulating fragments of these molecules could be useful for the early detection of prostate cancer. <![CDATA[<b>Pinzamiento femoroacetabular: Conceptos básicos en una nueva causa de dolor inguinal</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100015&lng=es&nrm=iso&tlng=es Femoro-acetabular impingement is an anatomical disturbance of the hip, caused by a deformity of the acetabulum, femur or both that causes an abnormal contact between both structures during certain movements. Its prevalence is 10 to 15% and causes chronic inguinal pain. It can be confused with several other causes of inguinal pain such as hernias, facet syndromes, a renal colic, etc. Patients with this condition are usually young individuals with inguinal pain that may appear after a minor trauma. During examination, pain may be elicited by infernal rotation and abduction movements of hip, flexed in 90°. Plain hip X ray is the most commonly used diagnostic method. Non-steroidal anti-inflammatory drugs and physical therapy can be used to alleviate pain, but the definitive treatment is surgical. <![CDATA[<b>Proctitis ulcerosa activa y refractaria</b>: <b>Una puesta al día</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100016&lng=es&nrm=iso&tlng=es Ulcerative colitis (UC) is a chronic inflammatory disease of unknown etiology that affects a variable length of the colon, starting from the rectum. When the disease is confined to the rectum is called ulcerative proctitis (UP). Several studies have unsuccessfully attempted to determine the factors that determine the extent of involvement. The goals of therapy in UP are to induce and maintain remission of symptoms and disease. Topical treatment with 5-aminosalicylates (5-ASA) is the treatment of choice to induce remission. In the maintenance phase, long-term follow up studies suggest that treatment with 5-ASA is better than placebo, to maintain the disease inactive. For those patients that do not respond to treatment with topical 5-ASA or have a moderate to severe disease, there are additional therapies such as oral 5-ASA, topical or systemic corticosteroids, immunomodulators, biological therapies (Infliximab) and cyclosporine. Surgery is seldom needed. <![CDATA[<b>Los diagnósticos de Gerard de Nerval: La influencia de la locura en la genialidad literaria</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100017&lng=es&nrm=iso&tlng=es Gerard de Nerval was a French writer, poet and essayist, precursor of surrealism that used for the first time this word in literature and influenced many modern writers. Since the age of 32, Nerval had recurrent psychotic episodes mixed with a severe depression, leading to many hospitalizations, and finally to his death. This mental disease clearly influenced his works and provided originality to his prose and poetry. However no clear explanation has ever been given to his mental disorder. We analyzed the clinical data available from his own works and the opinion of his close friends and postulate the hypothesis that Nerval had a mood disorder. <![CDATA[<b>Jean-Paul Marat</b>: <b>Médico, científico y revolucionario</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100018&lng=es&nrm=iso&tlng=es Physician, scientist and revolutionary are the biographical aspects that had better summarize the life of Jean-Paul Marat (1743-1793). Due to the role that he played during the French Revolution, his work as a physician and scientist, prior to the events of l789, was forgotten. Marat made important contributions in the area of optics and electricity reflected in numerous publications, as well as translating Newton's Opticks (1787). Well known for his radical and aggressive ideas, his political vocation led him to embrace the revolutionary cause after the events of the Bastille. His figure was not indifferent to his contemporaries; although considered a hero by the poorest citizens, aristocrats and bourgeois considered him a cruel extremist. During the last years of his life, he suffered a cutaneous disease, the diagnosis of which is still a matter of controversy. Proposed diagnoses include eczema, seborrheic dermatitis, scabies and dermatitis herpetica, among others. Marat was assassinated by Charlotte Corday in 1793, becoming a martyr for some segments of the society that worshiped his memory. He was a man with a complex and curious personality whose figure and legacy are still a matter of discussion. <![CDATA[<b>Tests genéticos</b>: <b>Definición, métodos, validación y utilidad clínica</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100019&lng=es&nrm=iso&tlng=es The knowledge of the human genome has led to an explosion of available genetic tests for clinical use. The methodologies used in these tests vary widely, allowing the study from chromosomes to the analysis of a single nucleotide. Prior to its use in the clinical setting, these tests should have an evaluation that includes analytical and clinical validation and determination of the clinical utility, as any other tests, including requirements for quality assurance. Recently, the CDC (Centers for Disease Control and Prevention, USA) published a guideline for Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, covering the pre-analytical, analytical and post-analytical phases of the tests. The document covers the importance of proper selection of tests, the availability of information on the performance of the techniques used, the quality control practices, the training of personnel involved and the report of results, to allow the adequate interpretation, including sensitivity and specificity. Considering that recent advances in genetics have changed and will continue to affect clinical practice, genetic tests must meet quality and safety requirements to enable optimal use of them.<hr/>El conocimiento del genoma humano ha dado lugar a un aumento explosivo de los test genéticos disponibles para uso clínico. Las metodologías utilizadas en este tipo de tests son muy variadas, permitiendo desde el estudio de los cromosomas hasta el análisis de una base nucleotídica. Previo a su utilización en el ámbito clínico, estos tests deben tener una evaluación que incluya su validación analítica y clínica y determinación de la utilidad clínica, además de cumplir, como cualquier otro examen, con requisitos para el aseguramiento de la calidad. Recientemente, el CDC (Centersfor Disease Control and Prevention, EE. UU) hapublicado recomendaciones para las buenas prácticas de laboratorio de tests moleculares que se utilizan para el diagnóstico de enfermedades genéticas, que abarcan la fase pre- analítica, analítica y post-analítica. Dentro de éstas destacan: la importancia de la selección adecuada de los tests, la disponibilidad de la información sobre el desempeño de las técnicas utilizadas, las prácticas de control de calidad, la capacitación del personal involucrado y la elaboración de un informe de resultados que permita al clínico interpretarlos adecuadamente, incluyendo sensibilidad y especificidad. Tomando en cuenta que los recientes avances en genética han modificado y seguirán modificando la práctica clínica, los test genéticos deben cumplir con las exigencias de calidady seguridad que permitan su uso óptimo. <![CDATA[<b>Opinión de la Academia Chilena de Medicina sobre la Certificación de Especialistas</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100020&lng=es&nrm=iso&tlng=es The knowledge of the human genome has led to an explosion of available genetic tests for clinical use. The methodologies used in these tests vary widely, allowing the study from chromosomes to the analysis of a single nucleotide. Prior to its use in the clinical setting, these tests should have an evaluation that includes analytical and clinical validation and determination of the clinical utility, as any other tests, including requirements for quality assurance. Recently, the CDC (Centers for Disease Control and Prevention, USA) published a guideline for Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, covering the pre-analytical, analytical and post-analytical phases of the tests. The document covers the importance of proper selection of tests, the availability of information on the performance of the techniques used, the quality control practices, the training of personnel involved and the report of results, to allow the adequate interpretation, including sensitivity and specificity. Considering that recent advances in genetics have changed and will continue to affect clinical practice, genetic tests must meet quality and safety requirements to enable optimal use of them.<hr/>El conocimiento del genoma humano ha dado lugar a un aumento explosivo de los test genéticos disponibles para uso clínico. Las metodologías utilizadas en este tipo de tests son muy variadas, permitiendo desde el estudio de los cromosomas hasta el análisis de una base nucleotídica. Previo a su utilización en el ámbito clínico, estos tests deben tener una evaluación que incluya su validación analítica y clínica y determinación de la utilidad clínica, además de cumplir, como cualquier otro examen, con requisitos para el aseguramiento de la calidad. Recientemente, el CDC (Centersfor Disease Control and Prevention, EE. UU) hapublicado recomendaciones para las buenas prácticas de laboratorio de tests moleculares que se utilizan para el diagnóstico de enfermedades genéticas, que abarcan la fase pre- analítica, analítica y post-analítica. Dentro de éstas destacan: la importancia de la selección adecuada de los tests, la disponibilidad de la información sobre el desempeño de las técnicas utilizadas, las prácticas de control de calidad, la capacitación del personal involucrado y la elaboración de un informe de resultados que permita al clínico interpretarlos adecuadamente, incluyendo sensibilidad y especificidad. Tomando en cuenta que los recientes avances en genética han modificado y seguirán modificando la práctica clínica, los test genéticos deben cumplir con las exigencias de calidady seguridad que permitan su uso óptimo. <![CDATA[<b>Nuevos Impresores para la <i>Revista Médica</i><i> de Chile</i></b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100021&lng=es&nrm=iso&tlng=es The knowledge of the human genome has led to an explosion of available genetic tests for clinical use. The methodologies used in these tests vary widely, allowing the study from chromosomes to the analysis of a single nucleotide. Prior to its use in the clinical setting, these tests should have an evaluation that includes analytical and clinical validation and determination of the clinical utility, as any other tests, including requirements for quality assurance. Recently, the CDC (Centers for Disease Control and Prevention, USA) published a guideline for Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, covering the pre-analytical, analytical and post-analytical phases of the tests. The document covers the importance of proper selection of tests, the availability of information on the performance of the techniques used, the quality control practices, the training of personnel involved and the report of results, to allow the adequate interpretation, including sensitivity and specificity. Considering that recent advances in genetics have changed and will continue to affect clinical practice, genetic tests must meet quality and safety requirements to enable optimal use of them.<hr/>El conocimiento del genoma humano ha dado lugar a un aumento explosivo de los test genéticos disponibles para uso clínico. Las metodologías utilizadas en este tipo de tests son muy variadas, permitiendo desde el estudio de los cromosomas hasta el análisis de una base nucleotídica. Previo a su utilización en el ámbito clínico, estos tests deben tener una evaluación que incluya su validación analítica y clínica y determinación de la utilidad clínica, además de cumplir, como cualquier otro examen, con requisitos para el aseguramiento de la calidad. Recientemente, el CDC (Centersfor Disease Control and Prevention, EE. UU) hapublicado recomendaciones para las buenas prácticas de laboratorio de tests moleculares que se utilizan para el diagnóstico de enfermedades genéticas, que abarcan la fase pre- analítica, analítica y post-analítica. Dentro de éstas destacan: la importancia de la selección adecuada de los tests, la disponibilidad de la información sobre el desempeño de las técnicas utilizadas, las prácticas de control de calidad, la capacitación del personal involucrado y la elaboración de un informe de resultados que permita al clínico interpretarlos adecuadamente, incluyendo sensibilidad y especificidad. Tomando en cuenta que los recientes avances en genética han modificado y seguirán modificando la práctica clínica, los test genéticos deben cumplir con las exigencias de calidady seguridad que permitan su uso óptimo. <![CDATA[<b>Programas de Especialización y limitación horaria, una necesidad con alcances aún no dimensionados</b>]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000100022&lng=es&nrm=iso&tlng=es The knowledge of the human genome has led to an explosion of available genetic tests for clinical use. The methodologies used in these tests vary widely, allowing the study from chromosomes to the analysis of a single nucleotide. Prior to its use in the clinical setting, these tests should have an evaluation that includes analytical and clinical validation and determination of the clinical utility, as any other tests, including requirements for quality assurance. Recently, the CDC (Centers for Disease Control and Prevention, USA) published a guideline for Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, covering the pre-analytical, analytical and post-analytical phases of the tests. The document covers the importance of proper selection of tests, the availability of information on the performance of the techniques used, the quality control practices, the training of personnel involved and the report of results, to allow the adequate interpretation, including sensitivity and specificity. Considering that recent advances in genetics have changed and will continue to affect clinical practice, genetic tests must meet quality and safety requirements to enable optimal use of them.<hr/>El conocimiento del genoma humano ha dado lugar a un aumento explosivo de los test genéticos disponibles para uso clínico. Las metodologías utilizadas en este tipo de tests son muy variadas, permitiendo desde el estudio de los cromosomas hasta el análisis de una base nucleotídica. Previo a su utilización en el ámbito clínico, estos tests deben tener una evaluación que incluya su validación analítica y clínica y determinación de la utilidad clínica, además de cumplir, como cualquier otro examen, con requisitos para el aseguramiento de la calidad. Recientemente, el CDC (Centersfor Disease Control and Prevention, EE. UU) hapublicado recomendaciones para las buenas prácticas de laboratorio de tests moleculares que se utilizan para el diagnóstico de enfermedades genéticas, que abarcan la fase pre- analítica, analítica y post-analítica. Dentro de éstas destacan: la importancia de la selección adecuada de los tests, la disponibilidad de la información sobre el desempeño de las técnicas utilizadas, las prácticas de control de calidad, la capacitación del personal involucrado y la elaboración de un informe de resultados que permita al clínico interpretarlos adecuadamente, incluyendo sensibilidad y especificidad. Tomando en cuenta que los recientes avances en genética han modificado y seguirán modificando la práctica clínica, los test genéticos deben cumplir con las exigencias de calidady seguridad que permitan su uso óptimo.