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Biomedical subjects

B Oliver

Publications and source records attributed to B Oliver.

At least 19 recordsLinked to original sources

Identification of regions interacting with ovoD mutations: potential new genes involved in germline sex determination or differentiation in Drosophila melanogaster.

Only a few Drosophila melanogaster germline sex determination genes are known, and there have been no systematic screens to identify new genes involved in this important biological process. The ovarian phenotypes produced by females mutant for dominant alleles of the ovo gene are modified in flies with altered doses of other loci involved in germline sex determination in Drosophila (Sex-lethal+, sans fille+ and ovarian tumor+). This observation constitutes the basis for a screen to identify additional genes required for proper establishment of germline sexual identity. We tested 300 deletions, which together cover approximately 58% of the euchromatic portion of the genome, for genetic interactions with ovoD. Hemizygosity for more than a dozen small regions show interactions that either partially suppress or enhance the ovarian phenotypes of females mutant for one or more of the three dominant ovo mutations. These regions probably contain genes whose products act in developmental hierarchies that include ovo+ protein.

Alleles

A phenomenological study of sensory defensiveness in adults.

This article describes the experiences of five adults who are defensive toward sensations of touch, movement, vision, smell, sound, and taste that most people consider harmless. It also describes the strategies that they use when they perceive environmental stimuli to be aversive. These coping strategies are avoidance, predictability, mental preparation, talking through, counteraction, and confrontation. A conceptual framework is presented to enhance understanding and guide further study of sensory defensiveness in adults.

Adaptation, Psychological

Evidence for sex transformation of germline cells in ovarian tumor mutants of Drosophila.

Mutations at a few genetic loci in Drosophila cause ovarian tumors with hundreds of poorly differentiated germ cells. We examined several of these mutants to test the hypothesis that such ovarian tumors contain sex-transformed cells. By testing for expression of male germline traits, we determined that partial germline sex transformation occurs in otu, snf, Sxlfs, and bam ovarian tumors. Thus these genes are likely to be required for proper establishment of germline sexual identity.

Animals

Parvalbumin and calbindin-D28k immunocytochemistry in human neocortical epileptic foci.

Serial sections of cortical resection of 30 patients suffering from drug-resistant epilepsy were processed for parvalbumin and calbindin-D28k immunocytochemistry to determine local circuit neuron populations. Our findings indicate that there is not a simple mechanism to explain neocortical epileptic foci. On the basis of the present results it can be suggested that: (1) reduced percentage of local circuit neurons in the vicinity of neoplasms may account for a decreased intracortical inhibition. (2) Abnormal morphology and distribution of local circuit neurons may result in abnormal cortical inhibition in patients with focal cortical dysplasia, and, probably, in other focal migrational disorders, including neuronal nests in the white matter. (3) Increased percentages of immunoreactive local circuit neurons and fibers in focal neocortical necrosis (cavernous angiomas), diffuse hypoxic encephalopathy, and hippocampus in patients with temporal lobe epilepsy due to mesial sclerosis, may play a role in epilepsy. These neurons can be activated by reduced excitatory inputs, or they may establish abnormal synaptic contacts with other inhibitory neurons. (4) Lack of consistent morphologic abnormalities in the neocortex of patients with temporal lobe epilepsy, and in patients with cryptogenetic frontal lobe epilepsy, suggests that electrically abnormal neocortical foci in these cases are probably epiphenomena.

Adolescent

What is needed for resective epilepsy surgery from a neurosurgical point of view?

Invasive versus non-invasive epileptogenic zone definition was analyzed in a series of 89 patients operated on for drug-resistant epilepsy. In the group of 69 cortical resections, 26% needed invasive recordings, 13.5% when foreign-tissue lesions had been detected by MRI and 32% when were absent. In this last group temporal resections had invasive EEG recordings in 23.5% versus 54.5% when the epileptogenic zone was extratemporal. In a group of 43 temporal resections with more than one year follow-up MRI has detected some abnormality in 84%. Excluding focal lesions, MRI detected hippocampal/temporal lobe atrophy in 66% of the cases in agreement with other noninvasive tests and in 4% contralateral to the epileptogenic zone located by subdural strips. The outcome analysis showed that 85% of the patients with MRI-EEG agreement were seizure free in contrast to only 43% when MRI was non-lateralizing. Future studies has to be oriented to better understand the epileptic process of patients without MRI abnormalities.

Brain

Function of Drosophila ovo+ in germ-line sex determination depends on X-chromosome number.

Germ-line sex determination in Drosophila melanogaster requires an assessment of the number of X chromosomes as measured against autosomal standards (XX = female, X = male) and signaling from the soma. Both of these sex determination cues are required for female-specific Sex-lethal+ function in germ cells. The ovo+ locus encodes zinc finger protein(s) required for female-specific splicing of Sex-lethal+ pre-mRNA, making ovo+ a candidate function acting between the two principal cues and Sex-lethal+. We have made ovo reporter genes and find that they show high activity in the germ line of females and low activity in the germ line of males. XY flies transformed into somatic females do not show high levels of reporter activity, while XX flies transformed into somatic males do. This shows that high level ovo+ expression depends on the number of X chromosomes, not the somatic sexual signals. The requirement for ovo+ function is restricted to XX flies. Mutations in ovo have no effect on XY males, X0 males or XY females, but have pronounced effects on germ cell viability in XX females, XX females with sex transformed germ lines, and XX males indicating that ovo+ gene products are required for events occurring only in flies with two X chromosomes.

Animals

Check records--a chairside mounting procedure.

This article considers the logistical problems involved when the check (interocclusal) record procedure is used to remount complete dentures on an articulator. It reports the development of upper and lower "check record mounting blocks" that may be made to fit any articulator, thus enabling the procedure to be performed easily and quickly at chairside.

Dental Articulators

[The tethered cord syndrome : a review of causes].

We present eighteen cases with Tethered cord syndrome (TCS). They were eleven adults and eight children. There were eight cases with surgical interventions performed in other centers during the newborn period for different types of spinal disraphisms. Clinical onset was insidious in 88% of the cases, and in 12% of the cases was acute, due to a precipitating factor. The main clinical findings were neurological skeletal , urological and cutaneous alterations in variable frequencies. Magnetic resonance imaging (MRI) was the best diagnostic test. Urodynamic studies in patients with urological alterations were abnormal and they helped to establish additional pharmacological treatment. After surgery 88% of the patients had an improvement or an arrest in the progression of the symptoms. Patients with shorter duration of the symptoms (less than 2 years) had a better prognosis.

Adolescent

The role of the ovarian tumor locus in Drosophila melanogaster germ line sex determination.

The locus ovarian tumor (otu) is involved in several aspects of oogenesis in Drosophila melanogaster. The possible role of otu in the determination of the sexual identity of germ cells has not been extensively explored. Some otu alleles produce a phenotype known as ovarian tumors: ovarioles are filled with numerous poorly differentiated germ cells. We show that these mutant germ cells have a morphology similar to primary spermatocytes and that they express male germ line-specific reporter genes. This indicates that they are engaged along the male pathway of germ line differentiation. Consistent with this conclusion, we found that the splicing of Sex-lethal (Sxl) pre-mRNAs occurs in the male-specific mode in otu-transformed germ cells. The position of the otu locus in the regulatory cascade of germ line sex determination has been studied by using mutations that constitutively express the feminizing activity of the Sxl gene. The sexual transformation of the germ cells observed with several combinations of otu alleles can be reversed by constitutive expression of Sxl. This shows that otu acts upstream of Sxl in the process of germ line sex determination. Other phenotypes of otu mutations were not rescued by constitutive expression of Sxl, suggesting that several functions of otu are likely to be independent of sex determination. Finally, we show that the gene dosage of otu modifies the phenotype of ovaries heterozygous for the dominant alleles of ovo, another gene involved in germ line sex determination. One dose of otu+ enhances the ovoD ovarian phenotypes, while three doses partially suppress these phenotypes. Synergistic interaction between ovoD1 and otu alleles leads to the occasional transformation of chromosomally female germ cells into early spermatocytes. These interactions are similar to those observed between ovoD and one allele of the sans fille (snf) locus. Altogether, our results imply that the otu locus acts, along with ovo, snf, and Sxl, in a pathway (or parallel pathways) required for proper sex determination of the female germ line.

Animals

Sex-lethal, master and slave: a hierarchy of germ-line sex determination in Drosophila.

Female sex determination in the germ line of Drosophila melanogaster is regulated by genes functioning in the soma as well as genes that function within the germ line. Genes known or suspected to be involved in germ-line sex determination in Drosophila melanogaster have been examined to determine if they are required upstream or downstream of Sex-lethal+, a known germ-line sex determination gene. Seven genes required for female-specific splicing of germ-line Sex-lethal+ pre-mRNA are identified. These results together with information about the tissues in which these genes function and whether they control sex determination and viability or just sex determination in the germ line have been used to deduce the genetic hierarchy regulating female germ-line sex determination. This hierarchy includes the somatic sex determination genes transformer+, transformer-2+ and doublesex+ (and by inference Sex-lethal+), which control a somatic signal required for female germ-line sex determination, and the germ-line ovarian tumor genes fused+, ovarian tumor+, ovo+, sans fille+, and Sex-lethal+, which are involved in either the reception or interpretation of this somatic sex determination signal. The fused+, ovarian tumor+, ovo+ and sans fille+ genes function upstream of Sex-lethal+ in the germ line.

Animals

Abnormal local-circuit neurons in epilepsia partialis continua associated with focal cortical dysplasia.

A limited cortical resection including the rolandic fissure and the pre- and postcentral cortical regions was carried out in a patient suffering from epilepsia partialis continua resistant to antiepileptic drugs. The histological examination revealed several foci of very large neurons distributed with no laminar organization in the depth of the rolandic fissure and in the crown of the primary motor and primary somatosensory areas; these lesions were consistent with focal cortical dysplasia. In addition, decreased numbers of neurons, astrocytosis and proliferation of capillaries, compatible with chronic tissue necrosis, were found in the inferior regions of the banks of the rolandic fissure. Subpopulations of local-circuit neurons were examined with parvalbumin, calbindin D-28k and somatostatin immunocytochemistry. Focal areas of cortical dysplasia contained abnormal immunoreactive neurons. Huge parvalbumin-immunoreactive cells were distributed at random and resembled axo-axonic (chandelier) and basket neurons. Abnormal calbindin D-28k-immunoreactive cells were reminiscent of double-bouquet neurons and multipolar cells. Very large somatostatin-immunoreactive cells were seldom observed in the dysplastic foci. On the other hand, areas of tissue necrosis displayed massive reduction of immunoreactive cells and fibers. Abnormalities in the morphology and distribution of local-circuit (inhibitory) neurons observed here for the first time in focal cortical dysplasia may have a pivotal role in the appearance and prolongation of electrical discharges and continuous motor signs in human focal epilepsy.

Adolescent

Gonadal dysgenesis reveals sexual dimorphism in the embryonic germline of Drosophila.

In hybrid dysgenesis, sterility can occur in both males and females. At 27.5 degrees, however, we found that P element-induced germline death was restricted to females. This sex-specific gonadal dysgenesis (GD) is complete by the first larval instar stage. As such, GD at 27.5 degrees reveals the sexually dimorphic character of the embryonic germline. The only other known dimorphic trait of the embryonic germline is the requirement for ovo. ovo is required for germline development in females only and has been implicated in germline sex determination. Dominant mutations of ovo partially suppressed female GD. Although embryonic germ cells are undifferentiated and morphologically indistinguishable between males and females, the functional dimorphism seen in ovo requirement and GD at 27.5 degrees indicates that sexual identity in Drosophila germ cells is established in embryogenesis.

Animals

[Treatment of acromegaly. Results in 56 patients].

The results of the treatment of acromegaly in 56 patients have been reviewed. Transsphenoidal pituitary adenomectomy (TPA) represented the most effective therapy, as it resulted in a cure rate of 64.7%, with 8.8% of complications and 14.7% of endocrine insufficiencies secondary to surgery. When radiotherapy was administered after surgery (when the latter had not been curative), the overall rate of cure increased to 73.5%. By contrast, the patients treated only with radiotherapy had a markedly lower cure rate (44.4%), with a higher rate of endocrine insufficiency (55%). The occurrence of extrasellar extension shown in preoperative pituitary computed tomography did not correlate with a worse postoperative cure rate; by contrast, the invasive character of the adenoma represented a reduction in the postoperative cure rate. It was concluded that TPA is the treatment of choice in acromegaly, independently of the tumor size.

Acromegaly

Genetic evidence that the ovo locus is involved in Drosophila germ line sex determination.

Zygotically contributed ovo gene product is required for the survival of female germ cells in Drosophila melanogaster. Trans-allelic combinations of weak and dominant ovo mutations (ovoD) result in viable germ cells that appear to be partially transformed from female to male sexual identity. The ovoD2 mutation is partially suppressed by many Sex-lethal alleles that affect the soma, while those that affect only the germ line fail to interact with ovoD2. One of two loss-of-function ovo alleles is suppressed by a loss-of-function Sex-lethal allele. Because ovo mutations are germ line dependent, it is likely that ovo is suppressed by way of communication between the somatic and germ lines. A loss-of-function allele of ovo is epistatic to germ line dependent mutations in Sex-lethal. The germ line dependent sex determination mutation, sans fille, and ovoD mutations show a dominant synergistic interaction resulting in partial transformation of germ line sexual identity. The ovo locus appears to be involved in germ line sex determination and is linked in some manner to sex determination in the soma.

Alleles

Estrogen receptor mRNA expression in callus during fracture healing in the rat.

Estrogen has profound effects on bone metabolism, yet its precise mechanism of action remains unknown. Several recent investigations have located the estrogen receptor (ER) on osteoblast-like cells, suggesting a potential direct action of estrogen via its own receptor on bone cells. The protective role of estrogen on bone in osteoporosis is well known; however, neither the existence nor the mechanism of an estrogenic role in fracture healing has been well studied. In this investigation we used a modification of polymerase chain reaction (PCR) amplification to detect and quantify ER messenger RNA (mRNA) levels in rat fracture callus previously undetectable by northern analysis. Verification of correctly amplified cDNA fragments was provided by restriction digestion. PCR failed to detect ER mRNA in total RNA extracts from tendon and fibrocartilage. The ER message was present in fracture callus at levels up to 70% of that found in rat uterus, and demonstrated a transient 13-fold increase in transcription by day 14 with return to baseline by day 31 of fracture healing. These data demonstrate that the rat estrogen receptor gene is expressed in fracture callus and suggest that estrogen may play an important role in the normal fracture healing process. In addition, this work adds to the growing body of evidence which supports a possible direct action of estrogen via its receptor on osteogenic cells.

Animals

Genetic evidence that the sans fille locus is involved in Drosophila sex determination.

Females homozygous for sans fille1621 (= fs(1)1621) have an abnormal germ line. Instead of producing eggs, the germ-line cells proliferate forming ovarian tumors or excessive numbers of nurse cells. The Sex-lethal gene product(s) regulate the branch point of the dosage compensation and sex determination pathways in the soma. The role of Sex-lethal in the germ line is not clear but the germ line of females homozygous for female sterile Sex-lethal alleles or germ-line clones of loss-of-function alleles are characterized by ovarian tumors. Females heterozygous for sans fille1621 or Sex-lethal are phenotypically wild type with respect to viability and fertility but females trans-heterozygous for sans fille1621 and Sex-lethal show ovarian tumors, somatic sexual transformations, and greatly reduced viability.

Animals