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Biomedical subjects

E Raab

Publications and source records attributed to E Raab.

18 recordsLinked to original sources
PubMed1997

Isolation and characterization of a mammalian homolog of the Drosophila white gene.

The Drosophila melanogaster white gene is a member of the ABC transporter superfamily of ATPase transmembrane proteins and is involved in the cellular uptake of guanine and tryptophan. We have cloned and sequenced human and mouse homologs of white which share 55-58% amino acid similarity with the Drosophila protein. Northern analysis reveals that the mammalian homolog is highly expressed in several tissues, including brain, spleen, lung and placenta. We have localized the gene to human chromosome 21q22.3 by means of fluorescence in situ hybridization and linkage analysis using a (CA)n polymorphism. The human homolog maps to the interval between D21S212 and D21S171, a region which includes loci for bipolar affective disorder and a recessive form of deafness. Since tryptophan is a precursor for the neurotransmitter serotonin and neurotoxic metabolites of the kynurenine pathway, we propose that the human homolog of white is a suitable candidate gene for these neurological disorders in humans.

ATP-Binding Cassette Transporters↗
PubMed1980

Cortical binocularity in infants.

The primate visual cortex, including that of man, receives separate input from each eye and these interact in binocular cortical neurones. This organization is known to be vulnerable to disruption in early life. To understand the development of human visual cortex, and to detect and assess disorders of binocular function at the earliest possible age, a robust method is needed for detecting binocular interactions in the infant's visual system. We have done this by recording cortical visual evoked responses (VERs) to the onset and offset of binocular correlation in a large-screen dynamic random dot display. We report here that, in general, the human infant has a functional binocular visual cortex by 3 months of age, with some individuals showing cortical binocularity at an earlier age.

Age Factors↗
PubMed1977

Visual association cortex and vision in man: pattern-evoked occipital potentials in a blind boy.

In a 6-year-old child who had been blind since the age of 2 years, occipital potentials of normal amplitude and waveform could be evoked not only by diffuse light flashes but also by alternating checkerboard ans sinusoidal grating patterns of low spatial frequency. Computerized tomography demonstrated destruction of the occipital lobes except of the primary visual projection area. Thus, in man, destruction of visual association cortices may result in loss of vision with partial preservation of pattern-evoked occipital potentials.

Blindness↗
PubMed1975

Kniest syndrome with dominant inheritance and mucopolysacchariduria.

A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

Adolescent↗
PubMedDate not supplied

A comparison of the success rates of resident and attending strabismus surgery.

Residency training involves surgery by resident surgeons at various levels of experience and proficiency, supervised by an experienced attending physician. We reviewed the results of strabismus surgery performed at four institutions with two residency training programs. Five hundred twenty-two cases with follow up greater than 6 weeks were evaluated. These cases included 315 attending procedures and 207 resident procedures under direct attending supervision. Success was defined as a strabismic deviation of 8 prism diopters or less. Average postoperative follow-up was 57 weeks and did not differ between groups. There was no statistical difference between the resident success rate of 58% (121/207) and the attending success rate of 69% (217/315) after adjusting for population differences. The average final deviation of the patients postoperatively was 7 delta for the attending group and 10 delta for the resident group. Amblyopia was significantly more frequent in the resident cases (P < .001). Adjustable sutures were used significantly more often in attending cases (P < .0001). This study supports the premise that resident strabismus surgery is as successful as attending surgery.

Adolescent↗