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Biomedical subjects

J Bautista

Publications and source records attributed to J Bautista.

At least 55 records · Page 3Linked to original sources
PubMed1997

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.

We studied a 25-year-old man with paresis of the limbs and neck, scapular atrophy, facial weakness, exercise intolerance and frequent episodes of myoglobinuria. Muscle histochemistry and biochemistry revealed a combined defect of myophosphorylase and AMP deaminase. Molecular genetic analysis showed that the patient was homozygous for the two most common mutations associated with myophosphorylase and AMP deaminase deficiencies. This is the second documented case of genetic 'double trouble', which should be looked for in patients with unusual severe phenotypes.

AMP Deaminase↗
PubMed1997

Streptokinase recovery by cross-flow microfiltration: study of enzyme denaturation.

During streptokinase (SK) recovery by cross-flow microfiltration (CFMF), a loss of activity of 14.4% was observed, after the initial volume was concentrated 8-fold (VCF = 8.0); 51.5% of the activity was recovered in the filtrate and 34.1% remained in the retentate. Immunological experiments using polyclonal antibodies against SK have demonstrated that SK activity loss during CFMF processes could be related to denaturation of SK, forming molecules of lower or no activity. Accumulation of denatured SK in the retentate suggests that denaturation could be the results of an aggregation phenomenon (as has been demonstrated by light scattering and chromatographic studies), leading to the formation of protein aggregates that are retained by the microfiltration (MF) membrane, affecting the fouling phenomenon and the concentration in the retentate of permeable molecules.

Chromatography, Gel↗
PubMed1995

Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.

We studied two pedigrees with a mutation at the nucleotide 3243 of mitochondrial DNA (mtDNA). The proband from the first pedigree had clinically defined MELAS plus maternally transmitted insulin-dependent diabetes mellitus (IDDM). The propositus of the other pedigree had exercise intolerance, lactic acidosis and ragged-red fibers (RRF). In the first pedigree, both the mother and the sister's proband harbored the point mutation in their muscle. The mother had 40% of mutant mitochondrial genomes and the sister 70%. In the second pedigree, the mutation was present in both muscle and blood from the proband as well as in blood from all other members studied. Proportion of mutant mtDNA was 90% in muscle and ranged from 40% to 90% in blood.

Adult↗
PubMed1995

[Congenital myopathy with cores and nemaline rods in one family].

We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck. Symptoms were not progressive and muscle biopsies showed central cores and nemaline rods in the mother and only nemaline rods in the 2 sons. The mother also suffered carpal tunnel syndrome, as had other members of the family as the result of autosomal dominant inheritance.

Adolescent↗
PubMed1995

[Recessive distal myopathies. Five cases].

We present five patients with distal weakness in the lower extremities with onset in adolescence. Paresis tended to occur in the gastrocnemia in 3 patients and was accompanied by marked elevation of CPK (> 10 times higher than normal). Muscle biopsies showed signs of dystrophy. The clinical picture for these patients was consistent with the diagnosis of recessive distal myopathy (Miyoshi's form). The differential sign in the other 2 cases was greater involvement of the anteroexternal leg muscles and the presence of rimmed vacuoles similar to those characteristic of Nonaka's vacuolar distal myopathy.

Adolescent↗
PubMed1995

[Adult onset mitochondrial myopathy without ophthalmoplegia. Four cases attributable to complex III and IV deficits in the respiratory chain].

Four adults with proximal myopathy of mitochondrial origin but no ocular involvement are presented. Biochemical analysis showed combined complex III and IV deficits in the respiratory chain in all cases, suggesting an apparent correlation between clinical phenotype and biochemical findings. Mitochondrial DNA analysis of muscle from 1 patient failed to detect either large-scale deletion or point mutations at position 3243 of tRNA(Leu(UUR)) or at 8344 of tRNA(Lys). The tissue specificity of the disease and the absence of family history suggest that a mutation in a nuclear DNA gene encoding a specific subunit of muscle could underlie this disease.

Adult↗
PubMed1994

Snoring may be linked to culture.

The estimates of the incidence of snoring in adults that have been provided by four epidemiological studies vary from 16-89% of the population. Collectively, these data are completely confounded by country of origin and thus may reflect cultural differences that contribute to snoring. While the etiology of snoring is not fully known, speculation has focused on gender and age as primary factors that contribute to this behavior. Within the limitations imposed by the designs of these four studies, we compared the relative strength of the relationships between snoring and gender, age, and culture. These analyses suggest that certain variables associated with cultures appear to be more salient than both gender and age, as determinants of snoring.

Adult↗
PubMed1994

Do right-handers live longer? An updated assessment of baseball player data.

In support of the argument that left-handedness is a marker for decreased survival fitness, in 1991 Coren and Halpern gave considerable weight to the results of their 1988 study in which right-handed baseball players were described as having lived about eight months longer than their left-handed peers. In their 1993 unsuccessful attempt to replicate this study, Fudin and colleagues cited certain difficulties with the sources of these data that led them to recommend a comprehensive third study which included only reliable data from the two current editions of the major sources of information on Major League baseball players, i.e., the 1993 editions of The Baseball Encyclopedia and Total Baseball. Following this suggestion, we measured the life spans of all baseball players, i.e., right-, left-, and mixed-handed players, for whom reliable data were available (N = 5441) and found that the relationship between handedness and longevity was not significant. Unlike Halpern and Coren we noted that right-handed players could be described as having lived about eight months less than their left-handed peers.

Aged↗
PubMed1993

Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy.

Plasma carnitine "insufficiency," (plasma esterified carnitine to free carnitine ratio above 0.25) was found in 21 of 48 (43.8%) patients with mitochondrial myopathy, of whom 4 also showed both total and free carnitine deficiencies in plasma. In addition, plasma levels of SCAC and LCAC were higher in patients with mitochondrial myopathy than in controls (P < 0.001 and P < 0.01, respectively). Patients diagnosed as having plasma carnitine insufficiency or deficiency were treated with L-carnitine (50-200 mg/kg per day in four daily doses). Muscle weakness improved in 19 of 20 patients, failure to thrive in 4 of 8, encephalopathy in 1 of 9, and cardiomyopathy in 8 of 8 patients. Plasma carnitine "insufficiency" provides an additional clue to the diagnosis of mitochondrial myopathy and an indication for L-carnitine therapy.

Adolescent↗
PubMed1993

Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy.

Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total (TC) and free (FC) carnitine levels in muscle were lower in patients than in controls (P < 0.01). Muscle long-chain acylcarnitines (LCAC) were significantly increased in these patients (P < 0.01). Muscle carnitine deficiency was found in 31.5% of patients with lipid storage myopathy (LSM) and in 25.6% of patients with ragged-red fibers (RRF). Therefore, carnitine deficiency can be found in patients with mitochondrial myopathy even in the absence of LSM. Muscle levels of TC and FC were lower in patients with respiratory chain defects than in those with normal respiratory chain (P < 0.01). In contrast, LCAC levels were significantly increased (P < 0.05). Carnitine levels did not differ significantly, among patients with different respiratory-chain defects. Consequently, these patients, owing to their biochemical block, reduce progressively the muscle carnitine pool and subsequent LCAC rise, due to long-chain fatty acid (LCFA) accumulation.

Adolescent↗
PubMed1993

Snoring and nightmares.

To test the conclusion of a recent study that snoring and disturbing dreams are strongly associated, 199 university undergraduates responded to a questionnaire that assessed their level of snoring and the frequency with which they experienced fantastic nightmares. Contrary to data provided by this recent study, we did not find a significant relationship between snoring and disturbing dreams. Some possible reasons for the discrepancy between these data sets were considered.

Adult↗
PubMed1993

Handedness and accidents with injury.

As evidence for the hypothesis on the claim of reduced longevity for left-handers, Coren in 1989 reported data which suggested that left-handers were 1.89 times more likely to report injuries which required medical attention. This left-handed group included both left- and mixed-handed individuals. To clarify the results of his study, we repeated in part Coren's study but defined handedness so that groups of right-, mixed-, and left-handed individuals were considered. In contrast to Coren's data, we found that right- and left-handers did not differ significantly in the frequency with which they reported having experienced accidents with injury and that mixed-handers reported being significantly more likely to have had an injury-accident than either right- or left-handers. These data underscore the need to consider mixed-handedness as a separate group in studies of this type.

Accident Proneness↗
PubMed1991

REM sleep deprivation does not increase the sexual behaviors of male rats.

Using several measures of sexual activity, 24 male and 30 female Sprague-Dawley rats were subjected to a pretreatment test and 3 posttests (immediate and Recovery Days 4 and 7) following REM sleep deprivation in a water tank. With careful controls, sexual activity was not significantly affected by the sleep treatments. Data do not support motivational hypotheses.

Animals↗
PubMed1991

[Complex I (NADH coenzyme-Q-reductase) deficiency, MELAS syndrome and hypertrophic cardiomyopathy].

A 24-year-old male had a deficiency of the complex I (NADH coenzyme-Q-reductase) of the mitochondrial respiratory chain, which clinically presented as a mitochondrial encephalomyopathy, with lactic acidosis and stroke-like episodes (MELAS syndrome). The encephalopathic episodes were preceded by migraine and were characterized by focal deficit signs, motor partial seizures and hypodense areas in the CT scan. An echocardiographic diagnosis of hypertrophic cardiomyopathy without intracavitary thrombi was made. It is suggested that hypertrophic cardiomyopathy is caused by the mitochondrial abnormalities that have been reported in the myocardium, and that migraine and cerebral infarctions are associated with abnormalities in the mitochondria from the endothelium and smooth muscle fibres of the cerebral small arteries and arterioles.

Acidosis, Lactic↗
PubMed1990

Familial hypertrophic cardiomyopathy and muscle carnitine deficiency.

Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment with L-carnitine, 3-4 g daily, and a long-chain fatty-acid-free diet.

Adolescent↗