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M Chávez

Publications and source records attributed to M Chávez.

At least 37 records · Page 2Linked to original sources
PubMed1996

G542X mutation in Mexican cystic fibrosis patients.

We analyzed the frequency of the G542X mutation in a sample of 76 Mexican cystic fibrosis patients and the genotype-phenotype correlation. The mutation was screened using PCR-mediated site-directed mutagenesis, and was present on 7.2% of the CF chromosomes. This frequency is significantly higher than the worldwide frequency according to the Cystic Fibrosis Genetic Analysis Consortium (3.4%, p < 0.01), and similar to that reported in Spain (8%), which is in accordance with the ethnic origin of the Mexican population. All patients carrying G542X on at least one allele had mild to moderate pulmonary disease. In patients with hepatobiliary involvement, the frequency of G542X chromosomes was higher than the frequency of the mutation in all the Mexican CF chromosomes.

Base Sequence↗
PubMed1995

Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the G551S mutation was detected by SSCP and sequence analysis of exon 11. Two previously described sisters who were homozygous for the G551S mutation had a very mild phenotype with normal sweat chloride concentrations. In our patients the mild phenotype resulted from the combined effect of the mild G551S allele with the severe delta-F508 allele.

Adult↗
PubMed1994

Identification of the I507 deletion by site-directed mutagenesis.

We describe a compound heterozygous delta-F508/delta-I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)-mediated site-directed mutagenesis showed the 219 bp fragment observed in delta-F508 homozygotes. The father showed a delta-F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a delta-F508/delta-I507 compound heterozygote, because the delta-I507 allele fails to amplify when analyzed with delta-F508 primers due to a double mismatch between the primers and template; b) uniparental isodisomy; c) nonmaternity; and d) sample processing mix-up. We then tested for the delta-I507 mutation using specific primers with a single base mismatch, and we found that the patient was in fact a compound heterozygote who inherited the delta-F508 mutation from the father and the delta-I507 from the mother. We underscore the need to detect this rare deletion in patients showing a delta-F508 homozygous pattern when one parent, particularly the father, is a noncarrier.

Alleles↗
PubMed1994

Proteinase inhibitor from Stichodactyla helianthus: purification, characterization and immobilization.

A Kunitz type proteinase inhibitor was isolated from extracts of the sea anemone Stichodactyla helianthus. The purification procedure comprises treatment with trichloroacetic acid followed by affinity chromatography on trypsin-Sepharose and gel filtration on Sephadex G-50 or ion exchange chromatography on CM-cellulose. The major inhibitor (isoelectric point 8.4) is a small protein consisting of 55 amino acid residues lacking tryptophan and methionine, with a molecular weight of 6110 (FAB-MS). The amino acid sequence and the structure in solution (NMR) were determined. The inhibitor exhibits a broad specificity for serine, cysteine and aspartic proteinases. Reactors were prepared with immobilized inhibitor in different supports (Sepharose, cellulose, and silica gel) to be employed in the elimination of undesirable proteinases and the purification of different kinds of proteolytic enzymes.

Amino Acid Sequence↗
PubMed1993

Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis.

In Caucasian populations cystic fibrosis (CF) is the most common autosomal recessive disorder. CF was previously considered rare in Mexico; however, the reported frequency is about 1% in autopsies. This discrepancy appears to be due to the inability to diagnose the illness during life. It is now known that in developing countries a great number of affected children die without the benefit of CF diagnosis and appropriate treatment. In this study we have used the PCR-mediated site-directed mutagenesis technique for the detection of the delta-F508 mutation in a 6-month-old Mexican boy who died without definitive diagnosis. The tissue available from the child was a formaldehyde fixed paraffin-embedded liver. We identified the delta-F508 mutation in homozygous form in the propositus and in a heterozygous form in his parents. This represents the first report of CF molecular diagnosis in Mexico.

Autopsy↗
PubMed1993

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.

This paper reports the frequency of the delta F508 mutation in a cohort of 50 Mexican patients with cystic fibrosis (CF). The mutation was detected by PCR mediated site directed mutagenesis. delta F508 was found in 39% of CF chromosomes, a frequency lower than that reported in Argentina and Spain. The high rate of CF cases who die undiagnosed, the ethnic origin of Mexican populations, and the limited number of cases studied could account for the low frequency of the delta F508 mutation found in this preliminary report.

Adolescent↗
PubMed1993

[A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].

The delta-F508 mutation was investigated in 39 index cases with cystic fibrosis (CF) using PCR-mediated site-directed mutagenesis. Eight patients were delta-F508 homozygous, 16 were delta-F508/unknown mutation compound heterozygous and 15 had unknown mutations in both alleles. Thus, delta-F508 was present in 41% of CF chromosomes and this frequency is lower than the observed among Northern European and North American Caucasians (70%), Southern Europe populations (50%) and Northern Mexico (59.1%). Age at present, age of onset of clinical data and age at diagnosis were lower in the group of delta-F508 homozygous, although the difference was not statistically significant. In this same group growth deficiency was more frequent than in the others. Among 84 brothers, 25 (28.9%) were affected. Pedigrees analysis showed that among 782 cousins, two were affected and in two families, other relatives born to non consanguineous parents had CF. These data suggest that, probably, the disease and heterozygous frequencies do not differ from the reported in Caucasians (1/2500 and 1/25 respectively). The low frequency of delta-F508 mutation could be due to the small size of the sample but it can also be explained by the heterogeneous genetic composition of the population living in Mexico or because a number of delta-F508 homozygous patients die at early ages without being diagnosed.

Adolescent↗
PubMed1992

Quantification of D-aspartate in normal and Alzheimer brains.

Using a new procedure to hydrolyze proteins without provoking racemization of the amino acids and using enzymatic methods to determine D- and L-aspartate (Asp), we have quantified the content of protein-bound D-aspartate (both D-aspartic acid and D-asparagine) of human brain white and gray matter proteins from normal and Alzheimer subjects. The D-enantiomer is present in brain proteins at mean concentrations between 0.48 and 0.90 mumol/g of wet tissue, corresponding to concentrations 34-82 times lower than that of L-aspartate. The highest levels of D-aspartate were found in Alzheimer gray matter (0.60-0.90, mean 0.69 mumol/g of wet tissue). When expressed as the percentage of total (i.e. D- plus L-) aspartate, %D = [D/(D + L)] x 100, the Alzheimer brains show a significantly higher content of D-aspartate in both gray matter (2.08%) and white matter (1.80%) than in the corresponding tissues of normal brains (1.65% in gray, 1.58% in white).

Alzheimer Disease↗
PubMed1992

Effects of a high molecular weight toxin from the sea anemone Condylactis gigantea on cholinergic responses.

1. The effects of a high molecular weight toxin isolated from the sea anemone Condylactis gigantea (Condytoxina 2) on the cholinergic responses were studied in two different preparations: identified cells of a land snail and enzymatically dissociated mice sensory neurons. These neurons were studied using intracellular recording and concentration clamp techniques respectively. 2. The toxin produces a concentration-dependent dual effect on the cholinergic responses in both preparations. Thus the application of the toxin at concentrations up to 25 nmol/l produces a reversible block of the response whereas higher doses potentiates it. 3. These results suggest that Condytoxina 2 contains an active compound(s) with the capacity to bind to the nicotinic acetylcholine receptor of excitable cells in both snail and mice neurons. During this action complex allosteric interactions among the binding sites could occur.

Animals↗
PubMed1992

Effects of G-6-PD deficiency, experimentally induced or genetically transmitted, on the sorbitol pathway activity. In vitro and in vivo studies.

Aldose reductase catalyzes the NADPH-linked reduction of hexoses to their respective sugar-alcohols, which are involved in the pathogenesis of "sugar-cataracts". In the lenses, the reaction catalyzed by G-6-PD is the source of NADPH supply blocking sugar-alcohol formation and consequently prevents or delays the onset of "sugar-cataracts". We have investigated the effect of G-6-PD deficiency, either experimentally induced or genetically transmitted, on the sorbitol accumulation in whole cells incubated in high glucose media and on the "sugar-cataracts" formation in a galactosemic rat model. We also screened 31 Negro male adults with diabetes mellitus for red cell G-6-PD deficiency. G-6-PD deficiency produced a significant inhibition on sorbitol accumulation in rat lenses and human red cells incubated in 50 mM glucose. In the galactosemic rat model G-6-PD deficiency experimentally induced with acetaminophen delayed the development of cataracts. Finally, two diabetic individuals were G-6-PD deficient and did not show cataracts whereas cataracts were identified in six other diabetic patients.

Acetaminophen↗
PubMed1989

Effects of a high molecular weight toxin from Physalia physalis on glutamate responses.

The effects of a high molecular weight toxin from Physalia physalis (P3) were investigated on glutamate evoked potentials in snail (Zachrysia guanesis) neurons and in crayfish (Cambarus clarkii) neuromuscular junction. The glutamate evoked potentials of snail neurons were reversibly blocked by P3 in a dose-dependent manner (2-200 microM). A reversible blocking action was also found for P3 on excitatory junctional potentials and on glutamate potentials of crayfish at a concentration range of 6 nM-60 microM. Experiments carried out with independent stimulation of the excitatory and inhibitory nerves showed that the effect of P3 (60 nM-10 microM) was exerted predominantly on excitatory junctional potentials. However, at higher doses (greater than 10 microM) a slight reduction of the inhibitory potentials was also observed. These results suggest that P3 reversibly blocks glutamate receptors. Thus, it could be a promising tool for further studies on glutamatergic transmission.

Action Potentials↗
PubMed1986

Pathogenic and free-living protozoa cultured from the nasopharyngeal and oral regions of dental patients: II.

Protozoa of the nose, mouth, and pharynx of 30 randomly chosen male caries patients at an odontological clinic of the National Autonomous University of Mexico, in Mexico City, were surveyed by culture from swabs. Culture tubes from swabs were observed every other day for 5 weeks. Pathogens found included Entamoeba histolytica, Naegleria fowleri, Acanthamoeba castellanii, A. culbertsoni, A. polyphaga, and Giardia lamblia. Such isolations of pathogens suggest that patients may be healthy carriers of cysts and trophic forms of protozoa responsible for several human diseases. Amoebae responsible for primary amoebic meningoencephalitis were well represented in the samples. Small pathogenic free-living amoebae have not been isolated before from healthy males in Mexico. Many species of free-living cyst-forming protozoa and some commensals without cysts were also cultured from swabs.

Adult↗
PubMed1980

Regional changes in adrenaline of rat brain during development.

The changes of adrenaline during development were studied in several regions of rat brain. Adrenaline is present in hypothalamus, medulla oblongata-pons, midbrain, and cerebellum. Adult levels are attained between 15 and 30 days, depending on the region. These adult levels are attained earlier in the caudal regions than in the rostral regions. In cerebellum and medulla oblongata-pons, the adrenaline content reaches a maximum at 15 days which is close to the time in which the levels of phenylethanolamine-N-methyltransferase (PNMT) reach their maximum. In midbrain and hypothalamus, there is a lag between the adult levels of adrenaline and the activity of PNMT. Adrenaline reaches adult levels at 25 days in midbrain and at 30 days in hypothalamus, while PNMT activity adult levels are attained at 15 days.

Age Factors↗
PubMedDate not supplied

Purification, characterization and immobilization of proteinase inhibitors from Stichodactyla helianthus.

Isolation of proteinase inhibitors from the sea anemone Stichodactyla helianthus was achieved by trichloroacetic acid treatment of the aqueous extract followed by affinity chromatography on trypsin-Sepharose and ion-exchange chromatography on CM-cellulose. The average molecular mass of the major inhibitor (ShPI-I) obtained by fast atom bombardment mass spectrometry (FAB-MS) was 6110.6 Da. The amino acid sequence was determined by FAB-MS combined with manual Edman degradation, digestions with endopeptidases and exopeptidases and automatic sequencing. The sequence of ShPI-I (55 amino acids) was compared with those reported in the SwissProt database for several proteinase inhibitors and significant similarity to inhibitors belonging to the Kunitz family was observed. ShPI-I exhibits a broad specificity for serine, cysteine and aspartic proteinases. The dissociation constants of the complexes formed with different enzymes were determined. The affinity-purified fraction (PI) was immobilized on Sepharose and used in the purification of different classes of proteinases.

Amino Acid Sequence↗
PubMedDate not supplied

[Primary hypothyroidism associated with a chiasmatic syndrome simulating a prolactinoma].

Three cases of primary hypothyroidism with optic chiasm compression due to pituitary hyperplasia are reported. Patients consulted for amenorrhea, galactorrhea and visual disturbances. The study of these patients disclosed a chiasm syndrome, persistent hyperprolactinemia, decreased thyroxine and triiodothyronine associated with elevated thyrotropin stimulating hormone in blood. Computerized tomography scan revealed the presence of pituitary enlargement. Treatment with thyroid hormones resulted in total resolution of clinical features and disappearance of tomographic abnormalities.

Adult↗