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Biomedical subjects

S Korol

Publications and source records attributed to S Korol.

At least 19 recordsLinked to original sources
PubMed1994

Complete DNA sequence of yeast chromosome II.

In the framework of the EU genome-sequencing programmes, the complete DNA sequence of the yeast Saccharomyces cerevisiae chromosome II (807 188 bp) has been determined. At present, this is the largest eukaryotic chromosome entirely sequenced. A total of 410 open reading frames (ORFs) were identified, covering 72% of the sequence. Similarity searches revealed that 124 ORFs (30%) correspond to genes of known function, 51 ORFs (12.5%) appear to be homologues of genes whose functions are known, 52 others (12.5%) have homologues the functions of which are not well defined and another 33 of the novel putative genes (8%) exhibit a degree of similarity which is insufficient to confidently assign function. Of the genes on chromosome II, 37-45% are thus of unpredicted function. Among the novel putative genes, we found several that are related to genes that perform differentiated functions in multicellular organisms of are involved in malignancy. In addition to a compact arrangement of potential protein coding sequences, the analysis of this chromosome confirmed general chromosome patterns but also revealed particular novel features of chromosomal organization. Alternating regional variations in average base composition correlate with variations in local gene density along chromosome II, as observed in chromosomes XI and III. We propose that functional ARS elements are preferably located in the AT-rich regions that have a spacing of approximately 110 kb. Similarly, the 13 tRNA genes and the three Ty elements of chromosome II are found in AT-rich regions. In chromosome II, the distribution of coding sequences between the two strands is biased, with a ratio of 1.3:1. An interesting aspect regarding the evolution of the eukaryotic genome is the finding that chromosome II has a high degree of internal genetic redundancy, amounting to 16% of the coding capacity.

Base Composition↗
PubMed1982

Pseudo-inflammatory chorioretinal degeneration of the posterior pole. Study of a family of four affected generations, associated with tapetoretinal amaurosis (Leber) in the fifth generation.

A description is given of a large family in which a particular form of posterior pole dystrophy occurs, but in which (except for one 21-year-old patient) no symptoms occur before the age of forty. Although it is of dominant transmission through four generations with a high degree of penetrance, slight forms do occur. The disease evolves in 2-4 years and in serious cases there is total loss of the central vision. Peripheral vision is conserved, so that affected patients are never entirely disabled and dependent. Early or slight cases may be precociously detected by angiography or sensitive functional tests (EOG, VER, and perhaps colour vision). The rapid evolution is due to exudative or haemorrhagic phenomena. This observation corresponds with the description of the disease individualized by Sorsby (pseudo-inflammatory posterior pole dystrophy) and is related to colloid degeneration. In the fifth generation a case of Leber's congenital amaurosis occurs, which is difficult to relate to the late posterior pole dystrophy.

Adolescent↗
PubMed1981

[Slight variations of vitamin A in blood levels and their effect on visual perception].

The purpose of this study was to find out a simple perceptual visual test that gives the possibility to detect the visual incidence of slight variations of the vitamin A blood rate. The visual function was tested in 30 young subjects without refraction problems at the same time as blood concentration of vitamin A was measured. Visual tests comprised visual acuity at high and low luminance level, contrast sensitivity, glare sensitivity as well as attenuation characteristics of the eye toward flickering stimuli. Among all these tests, only the flicker test showed some relation with the plasma vitamin A levels, which were situated between 35 and 75 mcg/100 ml.

Adolescent↗
PubMed1981

[Degenerative choroidal atrophy (author's transl)].

Based on of 10 personal observations, the authors discuss the modes of onset and the various clinical, functional and genetic aspects of primary degenerative choroidal atrophies. Central areolar atrophy may be the only lesion or is sometimes associated with other signs of a more extensive degeneration (fundus flavimaculatus, degeneration of the posterior pole). Among the diffuse forms a familial case is reported which can be interpreted as a sectorial hypoplasia, and a case similar to a choroideremia, but with recessive transmission.

Adult↗
PubMed1980

[Dominant chorioretinal dystrophy].

Provisional discussion about a family tree of a large family (13 members of one generation) presenting with a strange dominant hereditary chorioretinal degeneration, probably of Sorsby's type.

Adult↗
PubMed1980

[Heredoataxia, tapetoretinal degeneration and dysmorphosis in a boy aged 16 (author's transl)].

The authors describe a boy aged 16 presenting with a heredoataxia of Friedreichs type which began when the patient was eight and which was accompanied by a diffuse degeneration of the posterior pole of the retina developing at the same time. This syndrome is attended by dysmorphoses (slight craniofacial dysostosis and other developmental anomalies), retarded growth (height: 1 m. 36) and retardation of puberty. The authors advance the hypothesis that a recessive pleiotropic gene is responsible for both the neuroretinal syndrome and the dysmorphosis and quote the literature referring to this problem.

Abnormalities, Multiple↗
PubMed1980

[The Brown's syndrome: an anatomic variation (author's transl)].

In a young woman with an anomaly of the ocular motility evoking Brown's syndrome, an insertion anomaly of the superior oblique muscle, situated in the superior nasal quadrant 10 mm of the limbus, was found during operation. A stair-like tenotomy restored an almost normal motility.

Adolescent↗
PubMed1980

Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.

A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.

Brain Diseases↗
PubMed1979

[Visual disorders, functional defects and vitamin deficiencies].

The comparison between complaints, functional defects and vitamin deficiencies is reported for several professional groups characterized by different work conditions. Results suggest that complaints are an useful indicator of visual load and that retinal sensitivity to the light is especially tried. Longitudinal studies are required to verify whether some functional alterations on the aging process of the eye can be aggravated by a visual overload. Visual complaints, functional defects and vitamin deficiencies as indicators of visual load.

Adult↗
PubMed1979

[The computerized tomography in findings posttraumatic hematoma (author's transl)].

The authors report two cases of posttraumatic hematoma in the orbit. The first patient presents an unilateral amaurosis through indirect trauma of the optic nerve. The computerized tomography reveals a hematoma of the optic nerve sheath, confirmed by surgery. The second patient presents a posttraumatic limitation of the ocular motility and the computerized tomography reveals a hematoma of two extraocular muscles.

Adult↗
PubMed1978

[Ocular fatigue induced due to work on visual screens].

It appears that visual complaints, as they are expressed by numerous TV screen operators, are associated with common eye defects. Our results based on a survey with questionnaires and visual testing sustain such an hypothesis. As a consequence, solving eye problems at TV screens requires both the improvement of visual displays and the visual adaptation of users. If impossible working-time should be reduced.

Eye↗