Parental origin of Robertsonian translocation (15q22q) and Prader Willi syndrome associated with autism.
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Biomedical subjects
Publications and source records attributed to B Martinez.
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Seasonal affective disorder (SAD) represents a subgroup of major depression with a regular occurrence of symptoms in autumn/winter and full remission in spring/summer. Light therapy (LT) has become the standard treatment of this type of depression. Apart from this, pharmacotherapy with antidepressants also seems to provide an improvement of SAD symptoms. The aim of this controlled, single-blind study was to evaluate if hypericum, a plant extract, could be beneficial in treating SAD patients and whether the combination with LT would be additionally advantageous. Patients who fulfilled DSM-III-R criteria for major depression with seasonal pattern were randomized in a 4-week treatment study with 900 mg of hypericum per day combined with either bright (3000 lux, n = 10) or dim (< 300 lux, n = 10) light condition. Light therapy was applied for 2 hours daily. We found a significant (MANOVA, P < .001) reduction of the Hamilton Depression Scale score in both groups but no significant difference between the two groups. Our data suggest that pharmacologic treatment with hypericum may be an efficient therapy in patients with seasonal affective disorder.
Condylar hyperplasia is a pathologic condition associated with an overgrowing of the condylar cartilage. It is possible to distinguish two clinical forms; vertical and horizontal when the lesion is unilateral. We have reported two cases of vertical condylar hyperplasia, both of them treated by simple condylectomy, in our opinion the selected treatment. Histopathological images show an increase of the growth and maturation layers of the condylar cartilage and inclusions of cartilaginous tissue, with appearance of glove fingers into the underlying cancellous bone.
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A study of 100 MZ (55 female and 45 male) and 97 DZ (50 male and 47 female) same-sexed twin pairs was carried out to analyse the genetic component of the variance of the a-b, b-c and c-d interdigital ridge counts by means of the Christian method. Especially for the a-b interdigital ridge count, we found it important to analyse both sexes separately. Our results suggest that the a-b count in males seems to be more influenced by environmental factors than the other counts. For females, the three interdigital counts seem to have a strong genetic component influencing their phenotypic expression. Factor analysis with VARIMAX rotation showed each interdigital ridge count to be genetically independent.
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Palmar dermatoglyphics of a sample including 552 males and 701 females from 8 Basque valleys were analyzed. We studied the frequency of palmar pattern types and compared them using correspondence the frequency of palmar pattern types and compared them using correspondence analysis. The results of this comparative study show that there is diversity among valleys and also that this diversity depends on the trait and on sex. Genetic drift could explain this variability found in the Basque population.
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Fluctuating asymmetry for the digital quantitative value was analyzed in a sample of twins (mono and dizygotic) and singletons. The aim was to check if the influence of twinning on the development is expressed in a higher fluctuating asymmetry in twins than in singletons. The results have shown that significant differences exist among the three groups studied, and these differences are fundamentally expressed when the radial and ulnar counts are considered separately.
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We have analyzed the digital and palmar dermatoglyphics in a sample of autistic children from the Basque Country. The results have been compared with those from a control sample having the same characteristics relative to the ethnic region. We found significant differences between the digital dermatoglyphics of autistic boys and control boys. Autistic children have a higher frequency of transitional radial loops and a lower frequency of dicentric whorls; also the total finger ridge count (TFRC) and radial count are lower in autistic individuals. There were no significant differences in the girls. In palmar dermatoglyphics, autistic girls have a lower frequency of radial loops in the hypothenar area, and the value of the "atd" angle is higher than in control girls. These differences were significant. The a-b interdigital ridge count is significantly lower in autistic boys. Autistic children of both sexes have a higher frequency of aberrant palmar creases. The results obtained in the present study do not contradict the hypothesis that genetic factors may be important in autism of unknown cause.
A case of cutaneous cytotoxic/suppressor T-cell (CD8+, CD4-) lymphoma is reported. The tumor was characterized by its rapid growth and no response to polychemotherapy. This unusual immunophenotype seems to be associated, in this and other cases reported previously, with a more aggressive course than the classic indolent course of cutaneous T-cell lymphoma.
Eighty-six females and 79 males from the Basque valley of Deba were analyzed with respect to their digital patterns using correspondence analysis. We found that there was a significant sexual difference for only one type of pattern, tented arch. Also, this population was compared with other Basque valley populations and with other Spanish populations. We found great variability among Basque subpopulations, despite their supposed common origin. Dermatoglyphic distances for some traits can be interpreted as genetic distances because there is high heritability of these traits. The results of the comparison between the Deba valley population and other Spanish populations showed that the Deba population is markedly distant from the other populations.
A simple, reliable, and comparable measure for suicide mapping and other health problems is needed. Because standardized mortality ratios (SMRs) may not indicate the relative meaning of their magnitudes when compared with one another, and statistical significance levels of tests for SMRs overlook the areas that have small populations, neither of these approaches provides a satisfactory index. The results using directly adjusted rates can be ordered directly according to their magnitudes. However, because of the lack of reliable estimates of local age-specific rates, the usefulness of directly adjusted rates in mapping suicide is also limited. To extend the usefulness of directly adjusted rates, an empirical Bayes approach whereby information from other areas is borrowed to improve the precision of the estimates of local age-specific rates in calculating directly adjusted rates--especially in the areas with small population sizes--is proposed. When an empirical Bayes approach was applied to the 1983 suicide data for California counties, a more reasonable conclusion than could be obtained by using directly adjusted rates was reached.
Digital dermatoglyphics of an indigenous sample of 87 males and 101 females from the Urola Valley in the Spanish Basque Country are compared with those from the nine other Basque valleys previously analyzed. In both sexes of the Urola Valley, there is a very high frequency of radial loops; the mean found in this valley extends the range of variation for South European-Mediterranean populations, and it is in the superior limit of all Caucasian populations. There are bimanual and sex differences in the frequencies of whorls and loops. Contrary to what occurs normally in populations, in the Urola Valley the frequency of whorls is higher in females and the quantitative value of digital patterns is lower in males. The results of this study show the existence of heterogeneity among valleys for digital trait frequencies and for finger ridge count, and this heterogeneity is more marked in females.
Rat lung slices incubated in a Krebs Ringer bicarbonate buffer metabolized ethanol by sulfocunjugation at a rate of about 500 mumoles/g x hr when the ethanol concentration was 11 mM. Tissue slices from dog and rabbit lung also were able to metabolize this alcohol showing similar time curves and rates. In all cases ethanol metabolism showed a dependence on the concentration of ethanol which is typical of allosteric enzymes. The calculated Hill coefficient was between 1.69 and 2.07 in the three species studied. Sulfoconjugation of ethanol by rat lung slices showed a Km for ethanol of 26.59 mM and a Vmax of 11,357 mumoles/g x hr. The Km for ethanol determined with dog lung slices was 20.93 mM and Vmax was 8,052 mumoles/g x hr. In the case of rabbit lung, Km for ethanol was 20.15 mM whereas Vmax was 17,379 mumoles/g x hr. Preliminary evidence would seem to indicate that the human lung is also able to metabolize ethanol by conjugation with sulfate. These results suggest that the lung is endowed with a remarkable potential to metabolize ethanol by sulfoconjugation. In vivo, however, sulfoconjugation may be limited by substrate availability.