Polimorfismo del gen de aldosa reductasa y velocidad de aparición de retinopatía en diabéticos no insulinodependientes / Aldose reductase gene polymorphism and rate of appearance of retinopathy in non insulin dependent diabetic patients

Background: Recent studies suggest that polymorphisms associated to the aldose reductase gene could be related to early retinopathy in noninsulin dependent diabetics (NIDDM). There is also new interest on the genetic modulation of coagulation factors in relation to this complication. Aim: To look for a possible relationship between the rate of appearance of retinopathy and the genotype of (AC)n polymorphic marker associated to aldose reductase gene. Patients and methods: A random sample of 27 NIDDM, aged 68.1 ñ 10.6 years, with a mean diabetes duration of 20.7 ñ 4.8 years and a mean glycosilated hemoglobin of 10.6 ñ 1.6 percent, was studied. The genotype of the (AC)n, polymorphic marker associated to the 5Õ end of the aldose reductase (ALR2) gene was determined by 32P-PCR plus sequenciation. Mutations of the factor XIII-A gene were studied by single stranded conformational polymorphism, sequenciation and restriction fragment length polymorphism. Results: Four patients lacked the (AC)24 and had a higher rate of appearance of retinopathy than patients with the (AC)24 allele (0.0167 and 0.0907 score points per year respectively, p=0.047). Both groups had similar glycosilated hemoglobin (11.7 ñ 0.2 and 10.5 ñ 1.6 percent respectively). Factor XIII gene mutations were not related to the rate of appearance of retinopathy. Conclusions: Our data suggest that the absence of the (AC)24 allele of the (AC)n polymorphic marker associated to the 5Õ end of the aldose reductase gene, is associated to a five fold reduction of retinopathy appearance rate

Anomalias congénitas en población de bajo riesgo: screening con ultrasonido prenatal en un sistema público de salud / Congenital anomalies in low risk population: screening with prenatal ultrasound in a public health system

Conocer la prevalencia de anomalías congénitas, y la capacidad diagnóstica del ultrasonido en el segundo trimestre (18 a 28 semanas). Se evalúa la información sobre 41.294 partos (1995-1997), en el área sur-oriente de salud pública en Santiago, Chile. La prevalencia de anomalías congénitas mayores que son hospitalizadas en dicho período fue de 1,15 por ciento (475/41340). En el grupo estudiado, el 77 por ciento tuvo un examen de ultrasonido durante el trimestre medio. La sensibilidad del ultrasonido fue del 50 por ciento. La sensibilidad por sistemas fue de: 78,9 por ciento en genito-urinarias; 76,8 por ciento en anomalías del sistema nervioso central; 55,2 por ciento en gastro-intestinales; 56,6 por ciento en músculo-esqueléticas; 49 por ciento en trisomías (13, 18, 21); 44 por ciento en síndromes malformativos ; 36,2 por ciento para las anomalías cardiovasculares; 20 por ciento en faciales; y 28 por ciento para otras malformaciones. La mortalidad perinatal ampliada fue de 12,17/1000 (503/41340); el 24,1 por ciento de ésta (121/503) se asoció a anomalías congénitas. La evaluación con ultrasonido en el trimestre medio detecta una proporción significativa de las anomalías congénitas. Es importante aumentar la cobertura del examen de ultrasonido en el trimestre medio y mejorar la calidad del estudio ultrasonográfico cardiovascular y facial

Neuropatía diabética: sensibilidad térmica y control metabólico en diabéticos no insulinodependientes / Diabetic neuropathy: thermal sensation and metabolic control in non insulin dependent diabetics

Background: The early detection of peripheral neuropathy in diabetics is important since it is the main riskfactor for lower limb trophic lesions in diabetics. Aim: To assess the relationship between feet thermal sensation threshold and metabolic control in ambulatory non-insulin-dependent diabetics. Pattients and methods: A random sample of 34 non-insulin-dependent diabetic followed for more than five years in a special clinic, out of 368 patients, was selected. Warmth sensation thresbolds were measured in the dorsum of booth feet using a MSTP-III thermostimulator The average value of all glycosylated hemoglobins obtained during the 9.7 ñ 5.3 years of follow up for each patient was calculated. A multiple stepwise regression analysis was performed between thermal sensation as the dependent variable and glycosylated hemoglobin, fasting blood glucose, age and diabetes duration. Results: The regression model disclosed glycosylated hemoglobin as the only independent predictor of warmth sensation threshold (partial r= 0.385; p= 0.043). Fifteen diabetic patients with metabolic control, defined as those with a mean glycosylated hemoglobin of less than 9.5 percent, had a warmth sensation threhold of 35.6 ñ 3.7 ºC, whereas 19 diabetics with a bad control (glycosylated hemoglobin 9.5 percent) had a threshold of 39 ñ 3.8 ºC(p= 0.017). Conclusions: In this group of diabetics there is a relationship between the severity of distal polyneuropathy and the metabolic contrl, assessed with glycosylated hemoglobin levels