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Biomedical subjects

D Robins

Publications and source records attributed to D Robins.

14 recordsLinked to original sources

Extraocular muscle forces in alert monkey.

We describe an extraocular muscle (EOM) force transducer that provides low-noise signals from an alert animal for several months, is implanted without disinserting the muscle, and is well-tolerated by the body, and present results obtained with the device. The transducer can be used to study orbital statics and dynamics, and oculomotor control signals undiminished by orbital low-pass filtering and antagonistic pairing of muscles. It may provide an index of effective EOM innervation, useful in studies of orbital tissue healing and plasticity, and oculomotor (OM) signal adaptation. During horizontal saccades transducers implanted in the lateral rectus (LR) and medial rectus (MR) of a monkey trained to fixate revealed an agonist muscle tension waveform corresponding to the "pulse-slide-step" pattern of saccadic innervation, and an antagonist waveform that was similar within a scale factor. We never observed transient increases in antagonist force at the ends of saccades (active braking) or at the beginnings. Onset of saccadic force in LR preceded that in MR by 1.6 msec for abducting saccades, and lagged that in MR by 1.1 msec for adducting saccades. During vertical saccades, transient force changes were found in LR and MR, which were likely due, at least in part, to globe translation. LR and MR forces during fixation tended to be largest with the eye about 10 degrees in elevation, and smallest in depression, indicating that effective total innervation was a function of vertical gaze, or that there was variation in the elastic component of muscle force related to orbital geometry, with LR and MR innervation independent of vertical gaze. An exponential decrease in fixation force, having a time constant of about 10 days, was observed after implantation. This may have reflected adaptive muscle lengthening or post-surgical healing.

Animals

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.

Chromosome Banding

Extraocular muscle sideslip and orbital geometry in monkeys.

The belly of each extraocular muscle is elastically coupled to both the globe and orbit. The dependence of muscle planes on gaze angle must be determined experimentally. In monkeys, radio-opaque markers were implanted along the upper and lower margins of a lateral rectus. A scleral search coil was implanted in the other eye. With the eye in various gaze positions, X-ray images were made to show the LR in the lateral view. We found that as the eye rotates vertically over 50 deg (+/- 25 deg), the point of tangency of the LR with the globe slips an average of 5.1 mm vertically with respect to the globe, allowing this point--and so the muscle plane--to remain approximately fixed relative to the orbit. The results of quantitative orbital dissections are presented in support of the sideslip calculations.

Animals

Sequence comparison of alleles of the fourth component of complement (C4) and sex-limited protein (Slp).

cDNA clones specific for the fourth component of complement (C4) and its androgen-regulated isotype, sex-limited protein (Slp), have been isolated from two mouse haplotypes (H-2d and H-2w7) that show differential C4 activity and differential regulation of Slp. Clones were first isolated using a cDNA probe enriched by subtractive hybridization. Subsequent screening has resulted in cDNAs spanning the entire C4d mRNA, as well as much of C4w7, Slpw7 and a short region of Slpd. The cDNAs for C4 and Slp show extensive sequence homology, but can be distinguished using oligonucleotide probes synthesized to regions of greatest sequence divergence. Sequence differences between C4 and Slp indicate structurally important features of C4 that have been altered in Slp such that Slp is unable to participate in the complement pathway. Of the few nucleotide differences between C4d and C4w7, a single base change resulting in one less glycosylation site in the C4w7 alpha chain could account for its 4-fold reduced hemolytic efficiency. Sequence comparison of multiple alleles of C4 and Slp indicates that possible gene conversion events occurred in the H-2w7 strain that has multiple Slp genes.

Alleles

Eccentric visual acuity in patients with macular disease.

A series of cards each containing a two dimensional array of identical Snellen "E's" was used to determine best eccentric visual acuity in patients with macular disease having Snellen visual acuity of 20/70 or worse. Each "full field E" card simultaneously presents the same letter to foveal and parafoveal areas. This test can therefore determine quickly if potentially useful vision is present in any area of the central visual field. In our study of 37 eyes, 70% demonstrated potential visual acuity at least two times better than visual acuity measured by conventional methods, and 20% demonstrated at least a fourfold improvement. This suggests that most patients with macular disease do not spontaneously employ their best remaining area of retina for fixation.

Aging

Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis.

Two infants presented with a salt-losing syndrome, the presenting features of which were subtle. One case appeared to be transient. Deficient production of aldosterone was shown by plasma renin activity and plasma aldosterone profile. Gas chromatography-mass spectrometry of urine indicated a defect in 18-dehydrogenation of 18-hydroxycorticosterone. Treatment with salt supplements and 9alpha-fludrocortisone reversed the salt-losing state and in one case treatment was later stopped. Although the disease may appear transient, the biochemical defect is persistent and for adequate growth a positive salt-balance is necessary.

18-Hydroxycorticosterone