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Biomedical subjects

D S Taylor

Publications and source records attributed to D S Taylor.

At least 19 recordsLinked to original sources

Extreme clonal diversity and divergence in populations of a selfing hermaphroditic fish.

Recombination is unknown in natural populations of Rivulus marmoratus, a selfing hermaphrodite, and genetic variation is likely due to mutation alone. DNA fingerprinting with an array of microsatellite [e.g., (CT)9] and minisatellite (e.g., the 33.15 core sequence) probes reveals very high clonal diversity within samples of seven Floridian populations, of which five contain about as many clones as there are individuals. There are 42 clones among 58 individuals surveyed (mean, 1.4 individuals per clone), a level of genetic diversity unprecedented among clonal animals. Moreover, all of the probes recognize the same clones even though, at high hybridization stringencies, there is little overlap in the fingerprint patterns they generate. This suggests that most sympatric clones differ by multiple and independent mutational steps. In one population studied in detail, the average number of mutational steps separating two clones is estimated at 9 or 10 and may be substantially higher. The mutational discontinuities among sympatric clones make it unlikely that they evolved by accumulation of neutral mutations in populations that are otherwise genetically uniform. The data argue that the mixing of unrelated individuals from different local populations occurs to an extent previously unappreciated and/or that divergence of clones is mediated by natural selection. If confirmed, the latter would be a serious challenge to current ideas on the predominant role of recombination in promoting the evolution of biological novelty.

Animals

Mucolipidosis type IV. Presentation of a mild variant.

The authors report a 16-year-old girl with mucolipidosis type IV. She was referred because of deteriorating vision over the past three years. Corneal clouding with the appearance of cornea verticillata and retinal dystrophy were the main ophthalmological findings. Except for clumsiness no psychomotor retardation was present. Ultrastructural analysis of a conjunctival biopsy and cultured fibroblasts suggested a diagnosis of mucolipidosis type IV which was confirmed by biochemical studies. This patient represents the mildest described presentation of mucolipidosis type IV.

Adolescent

The killifish Rivulus marmoratus: a potential biocontrol agent for Aedes taeniorhynchus and brackish water Culex.

In the laboratory, newly hatched fry of Rivulus marmoratus were effective predators on 1st-instar Aedes taeniorhynchus. Adult fish consumed 4th-instar Ae. taeniorhynchus and egg rafts of Culex quinquefasciatus at a rate increasing with standard length of the fish. Predation of Rivulus marmoratus on Ae. taeniorhynchus larvae in the field was documented by observing the passage of larval/pupal remains through the gut. Laboratory reared fish released at known Ae. taeniorhynchus breeding sites survived over 1.5 years, but did not reproduce.

Aedes

Salmonella typhimurium abscess as a postoperative complication in a horse with colic.

An 11-year-old, 430-kg fox-trotter stallion was referred for evaluation of colic. A right-sided inguinal hernia was diagnosed. At exploratory laparotomy, the ileum was found to be herniated through the right inguinal canal. Compromised small intestine was resected, jejunocecal anastomosis was performed, and the horse was castrated. Three days after surgery, the stallion would not bear weight on the left hind limb. The musculature of the left thigh region became swollen. Aspiration of the left thigh region yielded serosanguineous fluid from which Salmonella typhimurium was isolated. Ultrasonography of the left thigh revealed multiple hypoechoic areas suggestive of abscess. The left medial thigh region was surgically incised, and a large abscess was drained. Bacteriologic culture of feces yielded S typhimurium. The owner elected to have the horse euthanatized.

Abscess

Heterogeneity in dominant anterior segment malformations.

Peters' anomaly is usually a sporadic or autosomal recessive condition. We present three families whose members had dominantly inherited anterior segment anomalies with variable expression, including typical Peters' anomaly in at least one family member. Slit-lamp examination of parents and family members of children with Peters' anomaly is therefore important to exclude dominant inheritance.

Abnormalities, Multiple

[Optic neuritis in children].

Study of 40 children who presented a first episode of idiopathic optic neuritis. A mean follow-up of more than 8 years revealed only 15% of multiple sclerosis. This frequency is much lower than in adults. The visual outcome is also better. Significant factors are: absence of papilloedema, unilaterality, recurrence, HLA B7 and DR2, oligoclonal cerebrospinal fluid, anomalies of the VEPs.

Adolescent

Acute oxalate poisoning attributable to ingestion of curly dock (Rumex crispus) in sheep.

Ten of 100 mature ewes were afflicted with acute oxalate toxicosis within 40 hours after being temporarily penned in a lot that contained considerable growing Rumex crispus (curly dock). Clinical signs of toxicosis included excess salivation, tremors, ataxia, and recumbency. Affected ewes were markedly hypocalcemic and azotemic. Oxalate crystals were not observed in urine. Gross postmortem lesions were minimal and nondiagnostic in 2 ewes that died peracutely, but perirenal edema and renal tubular degeneration were clearly observable in ewes euthanatized on the third day of toxicosis. Diagnosis of oxalate toxicosis was confirmed by histopathologic findings. Samples of Rumex spp contained 6.6 to 11.1% oxalic acid on a dry-weight basis, a concentration comparable with that in other oxalate-containing plants that have caused acute oxalate toxicosis.

Acute Kidney Injury

Albinism in childhood: a flash VEP and ERG study.

Flash visual evoked potentials (F. VEPs) and electroretinograms (ERGs) were recorded in a total of 20 young children with albinism (age range 5 months to 11 years, mean 4 years). All recordings were made without sedation. There were 13 oculocutaneous cases (one with Hermansky-Pudlak syndrome) and seven ocular albinos. Monocular flash stimulation commonly elicited an asymmetrical occipital VEP distribution with a well lateralised component at around 80 ms which was of opposite polarity in a comparison of VEPs from each eye. None of the normally pigmented matched controls or obligate female carriers showed this anomalous distribution. The albino electroretinogram, compared with controls, recorded under fully darkened conditions had a significantly larger a wave and significantly shorter latencies for both a and b waves. The accentuated ERG and asymmetrical VEP recorded in infants and young children with albinism permits distinction of these patients from those with congenital cone dysfunction and idiopathic nystagmus, with whom they may be confused by a clinical examination only.

Albinism

The eye in the CHARGE association.

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.

Abnormalities, Multiple

The effect of streptozotocin-induced diabetes on phenylalanine hydroxylase expression in rat liver.

The impact of experimentally induced diabetes on the expression of rat liver phenylalanine hydroxylase has been investigated. A significant elevation in maximal enzymic activity was observed in diabetes. This was associated with significant increases in the amount of enzyme, the phenylalanine hydroxylase-specific translational activity of hepatic RNA and the abundance of phenylalanine hydroxylase-specific mRNA. These changes in phenylalanine hydroxylase expression were not observed when diabetes was controlled by daily injections of insulin. These results are discussed in relation to the hormonal control of phenylalanine hydroxylase gene expression.

Animals

Monoclonal antibodies directed against basic fibroblast growth factor which inhibit its biological activity in vitro and in vivo.

A panel of four murine monoclonal IgG1 antibodies (mAbs) to a recombinant form of basic fibroblast growth factor (bFGF) was produced using somatic cell fusion techniques. Non-linear regression analysis of radioimmunoassay data for each mAb yielded the following dissociation constants (nM) for their interactions with bFGF: DE6 (0.822); AF11 (2.0); FE8 (2.31); and DG2 (20.0). One of the mAbs, DG2, was identified as a bFGF neutralizing antibody on the basis of its ability to inhibit, in vitro, the binding of [125I]-bFGF to high and low affinity bFGF sites on cultured baby hamster kidney cells and bFGF-induced [3H]-thymidine incorporation in cultured 3T3 cells, and in vivo, the angiogenic response to bFGF in a rat kidney capsule model of angiogenesis. The other mAbs displayed varying inhibitory activities in these assays. These mAbs, particularly DG2, may be well suited for a number of applications in bFGF research including immunoassays, immunohistochemical studies, and as functional antagonists of bFGF for examining its role in physiological processes such as reproduction, growth, and development.

Animals

Binding of tissue plasminogen activator to cultured human fibroblasts.

The binding of 125I-labeled, one-chain tissue plasminogen activator (t-PA) by WI-38 cultured human lung fibroblasts was investigated. Binding of t-PA to WI-38 monolayers was specific, saturable and temperature dependent. One and two-chain t-PAs were comparable in their ability to compete with 125I-labeled, one-chain t-PA for binding to fibroblasts, while no inhibition of binding was observed with a 500-fold molar excess of urokinase. Studies with various compounds suggest that neither the catalytic site, the fibrin binding site, nor the carbohydrate moieties on t-PA are involved in its binding to WI-38 cells. At higher temperatures, the amount of cell-bound 125I-t-PA that was removed by either incubation in binding buffer containing an excess of unlabeled t-PA, or by brief treatment with acidic buffer, was small (approximately 20%) suggesting that much of the t-PA is internalized. Electrophoretic analysis of extracts prepared from cells that had been incubated with 125I-t-PA revealed the presence of a major band of 70,000 Mr, which corresponds to intact t-PA. Our results suggest that WI-38 fibroblasts are capable of binding and internalizing t-PA, and that these processes involve a receptor site specific for t-PA.

Binding, Competitive

The electroretinogram.

The electroretinogram, findings, in response to a flash stimulus, was recorded from a skin electrode placed on the bridge of the nose in 4465 infants and children seen over a 10 year period. The electroretinogram was combined with a flash visual evoked potential. From this total, the electroretinographic findings in 240 patients, aged 1 day to 17 years, without suspected retinal pathology and with a normal visual evoked potential, were used as controls and normal electroretinographic parameters of different age groups defined. There were 332 patients who showed an absent or very reduced amplitude electroretinogram. They were divided into primarily ocular disorders (n = 195), neurodegenerative disorders (n = 94), and various syndromes (n = 43). Fundus examination did not always show any obvious abnormalities. The use of this simple and reliable technique for recording the electroretinogram made it possible to include this investigation as a routine procedure without the need for sedation in infants and uncooperative children. Electroretinographic studies, especially when combined with visual evoked potentials, and in some cases electroencephalography, may aid diagnosis in a wide variety of paediatric conditions, many of which have genetic implications.

Adolescent

Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light. They have a short obese habitus distinct from that of their unaffected siblings and parents.

Blindness

The infant corneal endothelium.

Specular microscopy of the in vivo corneal endothelium of 48 clinically normal eyes of 31 infants less than 1 year old revealed a regular mosaic of small cells. The cell population density of individuals varied greatly, as it does in age-related adults. Reexamination of five eyes indicated a reduction of the cell population density during the first year. This change could be accounted for by corneal growth in the absence of endothelial mitoses and not necessarily by true cell loss. There were morphologic indications of mitoses, but their interpretation is open to doubt.

Endothelium, Corneal

Recovery after optic neuritis in childhood.

Thirty-nine children who presented with optic neuritis in childhood were reviewed after a follow up period from 3 months to 29 years (mean 8.8 years). At follow-up, 30 out of 39 (77%) of the children had had no further episodes and in three (8%) there was recurrence of optic neuritis alone. Multiple sclerosis had developed in six patients (15%), a much lower frequency than after optic neuritis in adult life. Regardless of the initial degree of visual impairment or neurological outcome, the visual prognosis was excellent. Pattern evoked potentials at follow-up were much more frequently normal (55%) than in adults (10%) after optic neuritis.

Adolescent