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Biomedical subjects

N J Barton

Publications and source records attributed to N J Barton.

At least 55 records · Page 3Linked to original sources

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.

A 3-year-old boy presented with alpha-thalassaemia, dysmorphic features, and mental handicap. His younger sister is also mentally retarded, but haematologically normal. High resolution cytogenetic analysis revealed a normal karyotype in all family members. However, a combination of DNA analysis and in situ hybridisation demonstrated that the mother has a previously unsuspected balanced reciprocal translocation between the tips of the short arms of chromosomes 1 and 16, and that the alpha-globin gene complex (which maps to the tip of chromosome 16) is included in the translocated segment. Both of her children have inherited one of the translocation chromosomes in an unbalanced fashion: the boy has the derived chromosome 16, and therefore has alpha-thalassaemia, whilst the girl has the derived chromosome 1. Such cytogenetically invisible subtelomeric translocations are probably an important and hitherto unrecognised cause of genetic disease.

Alpha-Globulins↗

Long-term outcome of articular fractures of the phalanges: an eleven year follow up.

Fifty-four patients with fifty-nine intra-articular fractures of the phalanges have been followed prospectively for eleven years, at the end of which time only four had significant pain and sixteen others discomfort in cold weather. Improvement in the symptoms and in the range of motion often continued for more than a year after injury. Although 17% of joints developed minor osteophytes or cysts, only one had both radiological evidence of arthritis and persistent pain.

Adolescent↗

Continuous passive motion following flexor tendon repair.

A prospective study was performed of 20 consecutive patients with 35 flexor tendon lacerations, in whom post-operative mobilisation was carried out using the Toronto Mobilimb Continuous Passive Motion machine for the first 4 1/2 weeks. Overall the results assessed by Buck Gramcko criteria were 17 (85%) excellent or good, 3 (15%) fair and no poor results. Taking the 17 fingers with zone II lacerations, 14 (82%) were excellent or good, 3 (18%) fair and no poor results.

Adult↗

Non-union of the scaphoid: Russe graft vs Herbert screw.

The results of treatment in 50 consecutive patients with established non-union of the scaphoid are presented. All patients were treated under the care of a single consultant, for the same indications. Russe bone graft is compared with wedge bone graft plus Herbert screw fixation, in terms of union and function. Overall, a higher success rate was obtained by wedge graft plus Herbert screw, and a significantly better range of movement. However, Russe bone graft appears equally satisfactory for fibrous non-union.

Adolescent↗

Regional localization of the autosomal dominant polycystic kidney disease locus.

The localization of the autosomal dominant polycystic kidney disease locus (PKD1) within an array of anonymous polymorphic DNA sequences on chromosome 16 band p13 was determined by multipoint mapping. Nine polymorphic DNA markers, including two hypervariable sequences, were used to study 19 PKD1 and 21 reference families. PKD1 was found to lie proximal to the 3' and 5' hypervariable regions of alpha-globin and distal to the anonymous sequence CRI-0327. Somatic cell hybrid mapping places PKD1 within the region 16p13.11-16pter. The availability of an array of linked markers which bracket the PKD1 locus provides a framework for further attempts to identify the PKD1 gene and offers an improved method of presymptomatic diagnosis of the disease.

Animals↗

Infestation of sheep with the stored product mite Sancassania berlesei (Acaridae).

A sheep reared outdoors in Victoria was found to be heavily infested with a stored product mite, Sancassania berlesei (Acaridae), apparently subsequent to an earlier flystrike. Laboratory observation revealed the infestation to be self-sustaining. Shearing rapidly resolved the infestation but treatment with diazinon was ineffective. The infestation could be transferred to other sheep only in the presence of moisture; once established it caused an extensive skin lesion with considerable fluid loss, apparently contributing to the death of one animal. This lesion was extremely attractive to blowflies. Animals infested with mites showed few signs of irritation.

Animals↗

A comparison of conservative treatment and silicone replacement arthroplasty in Kienböck's disease.

Two forms of treatment of Kienböck's disease were compared in a total of thirty-seven wrists. Sixteen had been treated conservatively and were followed-up for an average of twenty years. Twenty-one had undergone silicone replacement arthroplasty an average of five years prior to review. Clinical results of conservative treatment showed four (25%) good, six (37.5%) fair and six (37.5%) with a poor result. Radiological deterioration was seen in only a quarter of cases. After silicone replacement there were nine (43%) good and seven (33%) fair. Five (24%) cases had a very poor result associated with dislocation of the prosthesis but design improvements have made this less frequent. Radiological abnormalities were noted in more than half of cases treated by silicone replacement arthroplasty. These included carpal collapse, scapho-lunate diastasis and generalised degenerative changes in the carpus. There were two cases with cyst formation in the capitate which closely resembled previous reports of silicone synovitis.

Adolescent↗

Anthelmintic resistance in nematode parasites of goats.

Cases of anthelmintic resistance on 3 goat farms in Gippsland were investigated. On the first farm Haemonchus contortus, Trichostrongylus colubriformis and Ostertagia (Teladorsagia) circumcincta were found to be resistant to fenbendazole, but the first 2 species were fully susceptible to levamisole. On the second farm a population of T. colubriformis, resistant to concurrent full doses of levamisole and a benzimidazole, was found to retain this resistance when transferred to sheep. On the third farm, heavy mortality due to Ostertagia and Trichostrongylus spp burdens was arrested only by the use of concurrent full doses of levamisole and oxfendazole; no single anthelmintic was found to be effective. A disturbing rise in the incidence of clinical helminthiosis, often accompanied by anthelmintic resistance, occurred on goat farms in Gippsland early in 1984.

Animals↗

Dupuytren's disease arising from the abductor digiti minimi.

Twenty patients with Dupuytren's disease arising from the abductor digiti minimi have been studied. The different patterns of origin, course, and termination of the diseased cord are described, and the clinical implications discussed.

Dupuytren Contracture↗

Effect of whole herd anthelmintic treatment on milk production of dairy cows.

Fifteen of 29 commercial dairy herds were given a series of anthelmintic treatments. The remaining herds were untreated to provide a measure of seasonal variation. In the treated herds all milking cows were treated once in the summer and the autumn and three times at monthly intervals in late winter and early spring. Any other animals grazing the same area were similarly treated. No herds had been treated with anthelmintics in the preceding year and mean herd lactations for that year were used as covariate corrections. This experimental design had the potential to detect differences in production of the order of 5 X 7 per cent (P = 0.05). Although levels of subclinical parasitism were low, anthelmintic treatment increased milk fat production by 10.8 kg (8.3 per cent) in heifers. Average response in mature cows was much smaller (3.1 per cent) and not significant. Apparent milk fat responses in individual herds were variable with no relationship to level of production in the previous year.

Abomasum↗