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Biomedical subjects

J Bautista

Publications and source records attributed to J Bautista.

At least 19 recordsLinked to original sources

Brain mitochondrial complex I inactivation by oxidative modification.

In vitro oxidation of the brain mitochondrial complex I by the hydroxyl radical generating system ascorbate/Fe(III)/O(2) has been carried out. Complex I inactivation, by oxidation, has been studied using a method based on the resolution of proteins by blue native polyacrylamide gel electrophoresis (BN-PAGE), followed by total protein quantification by staining with Coomassie brilliant blue, in-gel activity quantification, and quantification of oxidized proteins by labelling with DIG-hydrazide and immunodetection with an anti-DIG-AP. Quantification was carried out by densitometry procedure. Our results show that oxidation is a continuous process, increasing rapidly at the beginning, reaching a plateau after 8 h of incubation. There is practically no inactivation until a threshold value of damage is reached. Below this, the complex activity is resistant to the aggression of oxygen-reactive substances and free radicals, but once the threshold value is passed, activity is lost rapidly.

Animals↗

[The use of cardiopulmonary exercise test in patients with mitochondrial myopathies].

BACKGROUND: Exercise tests has been used in the diagnosis of metabolic myopathies. If there is an abnormal response pattern in mild mitochondrial myopathy (MM) and her role in the initial suspect diagnostic is unknown. SUBJECTS AND METHODS: Prospective study of 26 patients with mitochondrial myopathy (15 men, 11 women) and a control group of 14 sedentary volunteers (9 men, 5 woman) with similar antropometric characteristics. We have made pulmonary function tests and treadmill exercise with serial venous sampling of blood lactate, piruvate, ketone bodies, free fatty acids and creatinkinase. RESULTS: Patients with MM showed exercise limitation with lower maximal power (MM = 143 [47] vatts, C = 187 [40] vatts, p = 0.006), maximal oxygen uptake (MM = 27 [8] ml/min/kg, C = 40 [7] ml/min/kg, p = 0.001) and maximal oxygen pulse (MM = 11 [3] ml/beat, C = 14 [3] ml/beat, p = 0.006). For the same oxygen uptake the heart rate was higher and the anaerobic threshold was earlier in MM patients (MM = 48% [14], C = 62% [12], p = 0.01). We found a considerable slower maximal oxygen uptake in patients with lipid increase in muscle biopsy (n = 15). Acetoacetate curves, beta-hydroxybutyrate, free fatty acids and creatinkinase were similar in both groups. The exercise test was pathologic in 17/26 of the patients. The sensitivity of the exercise test for maximal oxygen uptake was 0.65. CONCLUSIONS: The cardiopulmonary exercise test is a useful test in the suspect initial diagnostic of patients with mild mitochondrial myopathy because the majority of patients show a pathologic test.

Adolescent↗

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency.

Adolescent↗

Molecular analysis of Spanish patients with AMP deaminase deficiency.

We found six patients with AMPD deficiency in muscle who were homozygous for the most common mutation, Q12X in the AMPD gene (AMPD1), associated with this disease. Three patients had AMPD deficiency alone, showing a mild clinical phenotype. Two patients showed a defect of PPL in muscle, and were homozygous for the most common mutation associated with McArdle's disease, R49X in the muscle PPL gene (PYGM). In one of these patients, the clinical phenotype was more severe than usually seen in patients with McArdle's disease. The remaining patient harbored the mtDNA A3243G mutation, showing one of the usual clinical patterns associated with this mutation. We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; that it is frequent in the Spanish population, and therefore frequently associated with other metabolic diseases; and that the effect of the association of AMPD and PPL deficiencies seems to be neutral.

AMP Deaminase↗

Alkylating agents from sugars. Alkyl hexopyranoside derivatives as carrier systems for chlorambucil.

Chlorambucil derivatives involving alkyl 2-aminodeoxy sugars have been synthesized in good yield by coupling the chlorambucil moiety to positions C-2 or C-3 of the sugar, directly or via a spacer. The starting material was easily available from 2-acetamido-2-deoxy-D-glucose. The final compounds were tested for cytotoxicity, and some of those that presented the best results were studied for inhibition of cell proliferation.

Adult↗

Purification and partial characterization of chickpea 2S albumin.

A chickpea 2S albumin has been purified by solubilization in 60% methanol and ion-exchange chromatography. Under denaturing conditions it is composed of two peptides of 10 and 12 kDa. Native molecular mass determined by gel filtration chromatography is 20 kDa. Amino acid composition shows that it is rich in sulfur amino acids, mainly cysteine with 4.6% of the total. On the other hand, it has antinutritional characteristics of being allergenic for chickpea-sensitive individuals and inhibitory against porcine chymotrypsin with a lesser degree toward trypsin. The results of interest from a nutritional point of view are discussed.

2S Albumins, Plant↗

Interaction of chickpea (Cicer arietinum L.) legumin with oxidized linoleic acid.

Chickpea legumin has been purified and incubated under oxidizing conditions with linoleic acid to investigate the influence of this acid on the structure and nutritional quality of the protein. At the end of the incubation time, >30% of the linoleic acid was oxidized. The oxidized linoleic acid was highly detrimental to legumin, and the electrophoretic pattern of the protein was completely changed after the incubation period. Nevertheless, neither polymerization nor cleavage of the protein was observed as deduced from gel filtration chromatography, suggesting that the changes observed in native electrophoresis were probably due to oxidation of legumin. The incubation of legumin with linoleic acid also produced a diminution of the contents of methionine and histidine, by 81.3 and 24.3%, respectively. Finally, in vitro protein digestibility of chickpea legumin was also seriously affected by the incubation with linoleic acid, decreasing from 84.1 to 69.2%.

Amino Acids↗

Three major G6PD-deficient polymorphic variants identified among the Mauritian population.

We report the results of the first epidemiological study investigating glucose 6-phosphate dehydrogenase (G6PD) deficiency among the heterogenous Mauritian population. Mauritius has a population of approximately 1 million, and of these 66.8% are Indo-Mauritian (of Indian origin), 27.9% are Creoles (of African ancestry) and 2.1% are Sino-Mauritian, predominantly of Chinese origin. Of the 1435 Mauritian males tested, 73 (5.1%) were G6PD deficient. However, the prevalence varied considerably between the two major ethnic groups: 35/1157 (3.0%) for Indo-Mauritians and 37/267 (13.9%) for Creoles. Molecular analysis revealed three major deficient polymorphic variants; G6PD Orissa, G6PD Mediterranean and G6PD A-. G6PD Orissa (nt 131 G-->C; residue 44 Ala-->Gly) was found to be the most common variant among Indo-Mauritians: this deficient variant was recently identified to be highly characteristic of the tribal groups in central India. In Creoles the most common deficient variant was G6PD A- (27/37). These data are consistent with the different ancestral contributions to the present gene pool of the Mauritian population. This study has provided further information as to the precise nature of G6PD deficiency at the molecular level among Indians, about whom previously there was scant information. The data presented suggest that G6PD Orissa is widespread in central and southern states of India. Additionally, the identification and frequency of G6PD-deficient alleles in Mauritius is of public-health importance.

Electrophoresis↗

Time perspective and sleep problems.

In this study of 137 university students, we examined the relationships among the five dimensions of the Zimbardo Time Perspective Inventory and three scales that measure aspects of sleep problems. All of the Zimbardo Inventory dimensions correlated significantly with each of the sleep problem-related scales. These data suggest that concern about time, regardless of the specific nature of individuals' time perspective, and certain sleep problems are significantly related.

Arousal↗

Ethnicity, sleep duration, and sleep satisfaction.

Analysis of responses of 1100 students from four ethnic groups to questions about the quantity and quality of their sleep indicated that ethnicity was modestly but significantly related.

Black or African American↗

Ethnicity and bruxism.

Distributions of students of four ethnic groups were statistically significantly different. 106 African-American students reported the lowest incidence of self-reported bruxism (9.4%), 452 Asian students the highest incidence (24.6%); 312 Euro-American and 225 Hispanic students' incidence was intermediate.

Black or African American↗

Ethnicity, Sleep Hygiene Knowledge, and Sleep Hygiene Practices.

We tested the mean differences in scores on Sleep Hygiene Knowledge and on Sleep Hygiene Practices among four ethnic groups of university students (N = 963). We computed significant main effects for ethnicity for both of these variables. Primarily the results reflect that the Euro-American students scored significantly higher on both scales than each of the other three groups.

Ethnicity↗

Boundaries and handedness.

The responses of 116 university students were used to assess a possible relation between scores on Hartmann's Boundary Questionnaire and the Briggs-Nebes Handedness Scale. Consistent with our prediction, the mean handedness score of the students with thin boundaries was significantly skewed in the direction of mixed-handedness.

Functional Laterality↗

Boundaries and level of experience with six types of dreams.

The self-reported levels of experience to six types of dreams were compared for groups of students who classified as having either thin (n = 30) or thick (n = 86) boundaries. Consistent with predictions drawn from the literature, the thin-boundary group scored significantly higher on level of experience for each dream type than the thick-boundary group. These data provide additional validation for Hartmann's Boundary Questionnaire.

Dreams↗

[The bent spine syndrome: a focal axial myopathy of late onset].

The bent spine is a rare syndrome appearing at an advanced age which shows a posture of anterior flexion of the trunk, which is reducible and is often hereditary. It is caused by a paresia of the extensor musculature of the trunk by a focal axial myopathy of late onset. We herein describe the case of a 72-year-old woman with a progressive bent spine initiated at the age of 55. Family questioning showed vertical transmission of the process. On exploration paresis of the paravertebral musculature and to a lesser extent of both girdles was observed. Serum CK levels were normal. Vertebral CT showed atrophy with fatty substitution of the paravertebral musculature. EMG of the scapular and paravertebral muscles demonstrated a myopathic pattern. Deltoid muscle biopsy found atrophy of type II fibers and isolated broken red fibers. This case corroborates the myopathic nature of this syndrome. A review of the nosology of the syndrome is also presented.

Age Factors↗