[A novel method for targeting and characterizing healthy older people]. / Identificación y caracterización del adulto mayor saludable.

BACKGROUND: there is no established definition of healthy aging in clinical practice, although it is a World Health Organization goal. AIM: to develop a clinical protocol to identify healthy older people living in the community and study their clinical, laboratory and functional characteristics. MATERIAL AND METHODS: healthy people aged 60 years or older, were invited to participate in the study, by newspapers and radio, if they selfperceived as healthy, lived in the community, were functionally independent and had low disease burden. Potential participants were initially screened by telephone, and those who met the inclusion criteria were included. They had a comprehensive geriatric assessment which included clinical, anthropometric, laboratory and functional assessments. RESULTS: of 384 people who answered the call, 83 subjects aged 60 to 98 years (57% women) met the inclusion criteria of healthy older people. Seventy eight percent did not consume any medication, 100% were able to perform physical activities that required at least three metabolic equivalents (Mets). Basic laboratory showed that approximately 90% of subjects had normal values, using standard benchmarks established for an adult population. CONCLUSIONS: the protocol used in this work was able to identify healthy older people with low disease burden and good functionality. It also validated history and comprehensive geriatric assessment as reliable instruments to identify these subjects.

Identificación y caracterización del adulto mayor saludable / A novel method for targeting and characterizing healthy older people

Background: There is no established definition of healthy aging in clinical practice, although it is a World Health Organization goal. Aim: To develop a clinical protocol to identify healthy older people living in the community and study their clinical, laboratory and functional characteristics. Material and Methods: Healthy people aged 60 years or older, were invited to participate in the study, by newspapers and radio, if they selfperceived as healthy, lived in the community, were functionally independent and had low disease burden. Potential participants were initially screened by telephone, and those who met the inclusion criteria were included. They had a comprehensive geriatric assessment which included clinical, anthropometric, laboratory and functional assessments. Results: Of 384 people who answered the call, 83 subjects aged 60 to 98 years (57 percent women) met the inclusion criteria of healthy older people. Seventy eight percent did not consume any medication, 100 percent were able to perform physical activities that required at least three metabolic equivalents (Mets). Basic laboratory showed that approximately 90 percent of subjects had normal values, using standard benchmarks established for an adult population. Conclusions: The protocol used in this work was able to identify healthy older people with low disease burden and good functionality. It also validated history and comprehensive geriatric assessment as reliable instruments to identify these subjects.

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. / Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia.

BACKGROUND: Achondroplasia and hypochondroplasia are skeletal dysplasias of autosomal dominant inheritance that represent different degrees of severity of the same pathological entity. Both dysplasias are caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. In achondroplasia more than 95% of the cases studied to date carry the same mutation (G380R). Hypochondroplasia represents a greater clinical and genetic heterogeneity, possibly being confused with "idiopathic short stature". The N540K mutation has been detected in 50-70% of cases of hypochondroplasia and mutations at the 650 locus in approximately 2.8%. AIM: To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic disproportionate short stature, hypochondroplasia and achondroplasia. PATIENTS AND METHODS: We studied 21 patients referred for idiopathic short stature, 5 with clinically suspected hypochondroplasia and 4 with achondroplasia. The G1138A, G1138C (G380R), and C1620, C1620A (N540K) mutations and the nucleotide changes at the 650 locus were studied using PCR and restriction analysis of genomic DNA. RESULTS: Three out of five hypochondroplasia patients were heterozygous for the N540K mutation. All of the 4 patients with achondroplasia presented the G1138A mutation. None of these mutations were found in patients with idiopathic short stature. CONCLUSION: Chilean patients with hypochondroplasia and achondroplasia have the same mutations described in other ethnic groups. The identification of mutations in 3 out of 5 patients with hypochondroplasia shows that this analysis is a useful tool for its diagnostic confirmation. In short stature the molecular study should only be indicated in those cases presenting other clinical and/or radiological features of hypochondroplasia.

[Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. / Correlación genotipo-fenotipo de un grupo de pacientes con fibrosis quística.

BACKGROUND: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide. AIM: To report 25 patients with cystic fibrosis in whom a genetic study was done. MATERIAL AND METHODS: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. RESULTS: A mutation was found in 75% of analyzed alleles. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. CONCLUSIONS: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.

[Anti thyroglobulin antibodies in the follow up of patients with differentiated thyroid cancer: residual or relapsing disease markers?]. / Anticuerpos anti-tiroglobulina en el seguimiento de pacientes con cáncer diferenciado de tiroides: marcadores de enfermedad residual o recidivante?

BACKGROUND: Anti thyroglobulin antibodies are present in 25% of patients treated for a differentiated thyroid cancer, invalidating thyroglobulin determination. Those patients subjected to total thyroidectomy and free of disease, should reduce the production of these antibodies, due to the lack of antigenic stimulus. Therefore, anti thyroglobulin antibodies could be useful to detect early relapses. AIM: To assess the relationship between anti thyroglobulin antibodies and the evolution of the disease in patients treated for thyroid cancer. MATERIAL AND METHODS: Retrospective analysis of 26 patients treated for thyroid cancer with positive anti thyroglobulin antibodies, followed for three years. These were divided in those with or without lymphocytic thyroiditis (19 and 7 respectively). RESULTS: At the first year of follow up, anti thyroglobulin antibody concentration was 401 +/- 94.9 UI/ml (x +/- sem) in patients with thyroiditis and 38.9 +/- 8.9 UI/ml in those without thyroiditis (p < 0.005). During the three years of follow up, no differences in anti thyroglobulin antibodies were observed between patients with or without tumor relapse. CONCLUSIONS: Concentration of anti thyroglobulin antibodies was higher in patients with thyroiditis and did not differentiate patients with tumor relapse.

Beta 2 microglobulina en algunas neoplasias hematológicas / Beta 2 microglobulin in hematologic neoplasias

Beta 2 microglobulin is alow molecular weight protein integrating the light chain HLA antigens Its serum concentration is increased in different neiplasias and in renal failure. Using solid phase Ria we determined the concentration of beta 2 microglobulin in plasma and spinal fluid of 57 healthy individuals and patients with hematologic neoplasia. Serum levels were 1.34 ñ 0.34 mg/l and spinal fluid levels were 1.3 ñ 0.7 mg/l in healthy subjects. Serum levels in 29 patients with myeloma was 7.51 mg/l, significantly highy in those with renal failure (12.35 mg/l) compared to those without (4.54). In 30 patients with non- Hodgkin lymphoma the mean serum levels were 2.90 mg/l, significantly greater in those with active disease (3.18) than in those with remission (1.5). No diference was founde according to the degree of malignancy. Patients with acute lymphatic leukemia had elevated values of beta 2 microglobulin while the disease eas active (3.37 mg/l), decreasing to normal levels after remission 91.79 mg/l). Spinal fluid levels of beta 2 microglobulin were elevated onfly in patients with central nervous system involvement. our results indicate that serunm levels of beta 2 microglobulin are helpful in patients with hematologic neoplasia in assessing the activity of the disease and tumor mass, especially in multiple myeloma

Estudio radiológico y cintigráfico biliar en el seguimiento de enfermos sometidos a coledocoduodenostomía por litiasis de la vía biliar principal / Radiological and scintigraphical biliary study in the follow-up of patients subjected to choledocoduodenostomy operated because of lithiasis of the main bile duct

25 pacientes portadores de coledoduodenostomía (CDS) por litiasis de la vía principal (VBP) se someten a control clínico, radiológico (EED) y cintigrafía hepatobiliar, con el fin de correlacionar sus condiciones clínicas y hepatobiliares, en un seguimiento a largo plazo (x:6,2 años). Desde el punto de vista clínico, se comprueba que éstos enfermos se han tranformado en un grupo de alto riesgo ( edad, aparición de patología extradigestiva, etc.), aunque la mayoría está libre de molestias biliares al momento del estudio. En el total de los casos se obtuvo buena correlación entre los hallazgos radiológicos y cintigráficos. En el 96% de los casos se comprobó una CDS funcionante y permeable y en 1 caso se demostró cierre de la anastomosis. Se concluye que el estudio radiológico con papilla baritada y la cintigrafía hepatobiliar son técnicas complementarias y útiles en el seguimiento de los pacientes con CDS. Se recomienda iniciar la evaluación con el estudio radiológico, interpretar los hallazgos cintigráficos a la luz de la radiología y reservar la endoscopia para casos conflictivos

Ciclosporina A en tratamiento inmunosupresor triasociado: comunicación preliminar / Ciclosporine A in triassociated immunosuppressor treatment: preliminary communication

Se presentan 2 series de 25 y 13 trasplantes renales sometidos a inmunosupresión Azathioprina-Prednisona (grupo control) y Ciclosporina-Azathioprina-Prednisona (grupo experimental) en dosis bajas. La sobrevida del injerto renal a 6 y 12 meses es de 88% y 76% para el grupo control, de 100% y 100% para el grupo experimental. Se observó 1 sólo caso de nefrotoxicidad reversible por C y A

Algunos parámetros hematológicos del embarazo normal / Some hematologic parameters of normal pregnancy

Los autores presentan la evaluación preliminar de algunos parámetros hematológicos en 86 embarazadas normales, seleccionadas de acuerdo con criterios estrictos que se enuncian Se analizan hematocrito, hemoglobina, leucocitos y plaquetas, determinados con el analizador. Technicon H-6000, en cinco grupos de pacientes entre 21 y 39 semanas de gestación. En relación a las variaciones de hemoglobina, se analiza lo que ocurre en niños con retardo de crecimiento intrauterino, y se intenta además individualizar la necesidad del aporte rutinario de fierro. En relación con leucocitos y plaquetas, se analizan algunos aspectos de la literatura al respecto, y se proponen, a base de los resultados del grupo estudiado, algunos parámetros de referencia para la población nacional

La glomérulonefritis aguda en el niño / Acute glomerulonephritis in children

Se analiza una serie de 45 niños de 2 a 15 años, promedio 7,7 años con cuadro clínico e histológico de GNA, que fueron seguidos hasta por treinta meses. Se realizó en ellos dos estudios histológicos (ML, ME, IN) en biopsias practicadas al comienzo de la enfermedad (promedio 20 días) y la segunda a los 194 ó 590 días en promedio. En el estudio clínico se destaca la normalización del edema a los 8,8 días y la hipertensión a los 4,3 días. Sólo se obtuvo estreptococo betahemolítico en cuatro enfermos, lo que puede relacionarse con el tratamiento antibiótico recibido previamente por estos niños. En el examen de orina un alto porcentaje no presentó hematuria (44%) o proteinuria (49%) en el examen de ingreso y sólo 29,9% tuvo cilindruria. La albuminemia tuvo valores bajo lo normal en el 35,6% de los niños, alfa 2 globulina y gamaglobulina con valores normales en todos. El complemento C3 fue en promedio 41,3m% y sólo 3 enfermos tenían valores sobre 100mg%. Se describen las curvas de antiestreptolisina O (ASO) y STZ en estos niños y se destaca la necesidad de determinaciones seriadas tanto de C3 como ASO y STZ. En el análisis de 194 contactos se obtuvo sólo 5 frotis faríngeos y 10 cutáneos positivos a estreptococo betahemolítico e estafilococo. En el estudio histológico se encontró buena correlación entre la intensidad de las lesiones en microscopía de luz (ML) y microscopía electrónica (ME). En esta última se destaca en la primera biopsia que todos tenían depósitos inmunes intramembranosos segmentarios y 84% con depósitos en joroba. La segunda biopsia mostró una disminución apreciable de la intensidad de las lesiones a los 6 meses y en las realizadas en promedio a los 590 días se encontró ya tres casos que pueden considerarse normales desde el punto de vista histológico. Otros tres con lesiones...

La enseñanza de las ciencias básicas y preclínicas / The teaching of basic and pre-clinical sciences

Se indaga la clase de estudiante que entra a la universidad, la formación del profesory las condiciones en que realiza su trabajo. La información básica se basa en: prueba sicológica para caracterizar al estudiante; una encuesta especial para profesores. Se menciona el impacto que ejerce en el estudiante el prestigio de la comunidad universitaria, como estímulo sicológico poderoso. Las ciencias básicas y preclínicas cumplen 3 roles formativos: nivelación cognoscitiva; formación cultural y psicobiológica; introdución a la profesión médica - tiniendo siempre como meta enseñar y educar. Se efectua una caracterización tipológica de los estudiantes de medicina (edad y caracteristicas generales del adolescente) y una caracterización operacional del profesor (recargo de trabajo, cursos que se diclán, distribución por décadas en sus formaciones, universidad a que pertenecen). Se sintetizan los planes curriculares generales de las 5 escuelas de medicina y se presenta el diagnóstico de las principales dificultades encontradas en la enseñanza, así como recomendaciones referidas al alumno, profesor, currículo, enseñanza y selección de estudiantes en la admisión