Analysis of 31 CFTR mutations in 55 families from the South of Spain.

We carried out a molecular analysis of 350 chromosomes from 55 families originating from the South of Spain (Andalucia) who were diagnosed with cystic fibrosis (CF). We used polymerase chain reaction, followed by an oligonucleotide ligation assay (OLA) and sequence-coded separation using capillary electrophoresis. A frequency of 43.5% for DeltaF508 was found, making it the most common CF mutation in our sample. Seven more mutations (G542X, R334W, R1162X, 2789+5G-->A, R117H, DeltaI507 and W1282X) were detected and accounted for 24.7% of the total. The remaining mutations (31.8%) were undetectable with the methodology used in this study.

Effect of carbenoxolone on glucose metabolism in rat adipose tissue.

Carbenoxolone significantly decreased the glucose uptake and the incorporation of glucose into triglycerides and CO2 in rat epididymal fat pads. The effect produced by insulin on these metabolic pathways was reduced when adipose tissue was incubated with insulin in the presence of carbenoxolone (10(-3) M). On the other hand the drug (10(-3) M) produced a decrease in cyclic AMP concentration in adipose tissue similar to that produced by insulin (100 ng/ml).

Cerebral cortex and amino acid neurotransmitters: higher levels of aspartic acid but not GABA in the frontal cortex of the rat.

Endogenous levels of Aspartic acid, GABA and Glutamic acid plus Glutamine were measured in the frontal, occipital, temporal and parietal cortex. Aspartic acid levels were found higher in the frontal cortex than in the rest of the cortical areas studied. GABA, however, had a homogenous distribution among all cortical areas.

Putative amino acid neurotransmitters and the nucleus dorsomedialis thalamus-prefrontal cortex pathway in the rat.

Endogenous levels of putative amino acid neurotransmitters (glycine, glutamic acid, aspartic acid, and GABA) in medial and sulcal prefrontal cortex of the rat were analyzed using gas liquid chromatography. No changes were found in the levels of these amino acids in medial and sulcal prefrontal cortex after lesion of the nucleus dorsomedialis of the thalamus suggesting, therefore, that the NDMT-prefrontal cortex pathway is not mediated by these amino acids.

Effect of insulin on acetate metabolism in chicken adipocytes.

The effects of insulin on the metabolism of acetate-U-14C in isolated chicken adipocytes have been investigated. Insulin added in vitro at physiological concentrations did not stimulate the incorporation of acetate-U-14C into triglycerides or CO2 when the acetate was present alone. In the presence of glucose 11m M, however, insulin stimulated significantly lipogenesis from acetate. This is an indirect action mediated by glucose.

Effect of insulin in vivo on the synthesis of free fatty acids (FFA) in chicken heart and skeletal muscle.

The effect of insulin on the synthesis of free fatty acids from glucose in the skeletal and heart muscles of chicken is examined. 10 min after glucose-(U-14C) administration, labeled free fatty acids (FFA) appeared in both skeletal and heart muscles. 0.75 IU of insulin kg-1 b. wt significantly increased the labeled FFA at the 30, 60 and 120 min intervals, with a maximum at 60 min.

Insulin effects on glucose utilization by human lymphocytes.

In recently isolated human lymphocytes, no effect of insulin on (U-14C) glucose incorporation into CO2, triglycerides and glycogen, was found over a wide range of insulin concentration. The rates of glucose oxidation, synthesis of triglycerides and synthesis of glycogen are much lower than those observed in chicken and rat adipocytes. The authors discard the possibility of using the human lymphocyte as an instrument in the study of the insulin action on normal and altered human physiology.

Study of a set of chromatographic parameters for the determination of estrogens.

Optimum chromatographic parameters for the separation and detection of estrogen TMS derivatives are described. Estrogens are best separated by using a 2 m glass column with 1% SE-30 load; an 8' iso temperature program, 230 degrees C, 3 degrees C/min, 296 degrees C; 24 ml/min nitrogen flow; 33 ml/min hydrogen flow and 1.5 Kg/cm2 air pressure.

[The urinary excretion of pregnanediol during pregnancy determined by gas-liquid chromatography. III. Its relation with the obstetric results (author's transl)]. / Pregnandioluria durante el embarazo determinada por cromatografía gas-líquido. III. Relación con los resultados obstétricos.

269 determinations of urinary pregnanediol by gas-liquid chromatography were made in 140 patients during pregnancy. A relation between the pregnandioluria and the fetal results (adequacy of the weight to gestational age, Apgar score at one and five minutes of birth, umbilical artery blood PH and perinatal mortality) as well as the global evaluation of the placenta (macroscopic aspect, vascular index of Kawai et al. and Scott and Jordan index) was studied. The results show that in the cases with fetal pathology (small for date, depression, acidosis, perinatal death) as well as in the cases with placental pathology, the values of pregnanediol were significantly decreased from the first months of pregnancy, which indicate that the placental insufficiency is a very precoz chronic process and on the other hand, that the determination of urinary pregnanediol is a good method for its detection.

[The urinary excretion of pregnanediol during pregnancy determined by gas-liquid chromatography. II. Its relation with other parameters controling pregnancy (author's transl)]. / Pregnandioluria durante el embarazo determinada por cromatografía gas-líquido. II. Relación con otros parametros de control del embarazo.

The relation between the urinary pregnanediol determined by gas-liquid chromatography during pregnancy, with ultrasonic findings (biparietal diameter, thickness and echorrefringency of the placenta and the appreciated quantity of amniotic fluid), with biochemical parameters of control of pregnancy (beta-glucoronidase, total and thermostable alkaline phosphatase), with amnioscopic findings, and with several studied parameters of the amniotic fluid by amniocentesis, were studied. A good relation exists with the parameters which denote placentary insufficiency and fetal risk (irregularity in the homogeneity of the placenta, elevation of the total and thermostable alkaline phosphatase, positive amnioscopy) and also with those that are related with fetal maturity (biparietal diameter, shake test, organge cells, creatinine in amniotic fluid, etc.). These results indicate that the determination of urinary pregnanediol can be one of the tests controlling the normal and pathological pregnancies, being useful in the detection of fetal risk and the diagnosis of the intrauterine fetal maturity.

[The urinary excretion of pregnanediol during pregnancy determined by gas-liquid chromatography. I. Its evolution throughout the normal and pathological pregnancy (author's transl)]. / Pregnandioluria durante el embarazo determinada por cromatografía gas-líquido. I. Evolución a lo largo del embarazo normal y patológico.

Employing the technique described by Van Kampen and Anker, modified by Macarulla et al., 180 pregnant women have been studied (66 normals and 114 with different pathology: infertility, toxemia, diabetes, Rh isoinmunization, gemelar pregnancy and abortions), taking 319 determinations of pregnanediol in 24 hours urine samples. The analysis of the results show in normal pregnancy a progressive increase of the urinary pregnanediol from the beginning of gestation, this increase being more intense from the 20th week, reaching the maximum value in the 37th week and from this point descending slowly. In patients with toxemia, the values of pregnanediol (in the majority of the cases) are decreased, while in pregnant women with antecedents of infertility are increased from the 36th week of pregnancy, although they had protective treatment from first months of pregnancy. No manifest deviations of urinary pregnanediol from the normal values exist in diabetic pregnant women, Rb isoinmunization or gemelar pregnancies. In aborted pregnancies the pregnanediol values are markedly decreased without a tendency to increase, contrary to the threats of abortion in full-term pregnancies.