Occupational causes of disorders in the upper limb.
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Biomedical subjects
Publications and source records attributed to N J Barton.
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43 young women with undiagnosed wrist pain were followed up for a median of 13 years (range 3 to 19). 26% were now free of pain and 35% had improved; 30% were unchanged and 9% were worse. Overall, 40% were still significantly troubled. There was no evidence that those patients suffered or had suffered from emotional or psychiatric disturbance which might have been responsible for the pain. Only three patients had developed ganglia.
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55 patients with 64 injuries of the hand sustained while playing cricket were reviewed, 46 clinically. Most of the injuries were during fielding. The peripheral digits were most frequently involved and joint injuries predominated. Though the majority of the patients had a satisfactory functional outcome, some admitted to occasional pain and persistence of swelling and/or minor deformity. The most serious injuries were eleven fractures of the base of the middle phalanx with dislocation of the P.I.P. joint.
Immobilisation of the thumb is widely believed to be important in the management of fractures of the carpal scaphoid. To assess the need for this, we randomly allocated 392 fresh fractures for treatment by either a forearm gauntlet (Colles') cast, leaving the thumb free, or by a conventional 'scaphoid' plaster incorporating the thumb as far as its interphalangeal joint. In the 292 fractures which were followed for six months, the incidence of nonunion was independent of the type of cast used.
Eimeria arundeli is a widespread coccidian parasite of the common wombat (Vombatus ursinus), and has been considered to be nonpathogenic. We describe disease in two captive juvenile wombats ascribed to infection with E. arundeli. One animal had diarrhea, the second had mucoid soft feces and lost weight over several weeks prior to death. Masses of coccidial gametocytes in hypertrophic cells in the lamina propria distended villi, causing grossly visible raised pale thickened regions over extensive areas of the mucosa of the small intestine in both animals. Neutrophils infiltrated affected mucosa, and there was an inflammatory exudate into the intestinal lumen in case one. In case two, neutrophils infiltrated the lamina propria of villi focally, crypts were distended by necrotic debris, and epithelium on villi was extremely attenuated. No bacterial pathogens were isolated from lung and intestine in case one; case two was not cultured. Oocysts consistent with E. arundeli were present in large numbers in floatations of diarrheic feces in both cases.
Two polymorphic loci and two additional probes that map close to CMM65, which is tightly linked to the polycystic kidney disease 1 (PKD1) locus in chromosome band 16p13.3, are described. These new probes were isolated from a library that was enriched by preparative pulsed-field gel electrophoresis (PFGE) for sequences from a 320-kb NotI fragment that includes CMM65. Through the use of a panel of somatic cell hybrids and PFGE, the new polymorphic loci, PNL56S and NKISP1, were localized within 60 kb and approximately 250 kb distal to CMM65, respectively. A long-range restriction map linking these new probes and the distal markers EKMDA2, CMM103, and alpha-globin was constructed. These latter probes have been localized to regions approximately 900 kb, 1.2 Mb, and 1.9 Mb distal to CMM65, respectively. The entire region was found to be unusually rich in CpG dinucleotides. The new polymorphic probes and the long-range map will aid both the search for the PKD1 locus and the detailed characterization of this distal region of 16p.
An experiment was undertaken between July and November 1985 in East Gippsland, Victoria, to determine the efficacy of an intra-ruminal controlled-release albendazole capsule against naturally acquired worm burdens and larval challenge in Merino hoggets. Two groups of 20 sheep, one group untreated, the other dosed with a capsule were grazed together; 5 sheep from each group were slaughtered for total worm counts 30 and 101 d after capsules were administered. Serum anthelmintic concentrations, faecal egg counts and body weights were monitored. Most capsules were exhausted within 91 d of administration. During the estimated 80 d for which they remained active the capsules were highly effective against the benzimidazole-susceptible worm populations. Faecal egg counts were reduced to zero and total worm populations were reduced by over 97% 30 d after administration. By 101 d egg counts were increasing and worm counts indicated that sheep were becoming reinfected. Sheep treated with the capsules grew faster than those not treated.
Twenty observers reported independently on the presence or absence of a fracture of the scaphoid on 60 sets of radiographs; these included initial and 2- to 3-week views in patients in whom the outcome was known, normal scaphoids and random copies of these. Analysis of variance of the accuracy of observations revealed that the 2- to 3-week radiographs did not improve diagnostic ability and that this was independent of the experience or seniority of the observer. For normal radiographs, 20% of the observations reported a fracture. Reproducibility of opinion improved with experience but this did not help with accuracy. Radiographs without accurate clinical observation should not determine the management of the suspected scaphoid fracture.
The major site for mutations leading to autosomal dominant polycystic kidney disease (ADPKD) is at the PKD1 locus, previously mapped to 16p13. Three additional probes have now been mapped within an existing array of genetic markers flanking this locus. One of these, CMM65b (D16S84), shows no recombination with PKD1 in 201 informative meioses. The others, Fr3-42 (D16S21) and EKMDA2 (D16S83), are shown to be the closest telomeric flanking markers. Somatic cell hybrids containing derivative chromosome 16s were used to construct a physical map of the region. Cosmid overlap cloning of the D16S84 region allowed a t(16;1) translocation breakpoint to be mapped at the molecular level, orientating the extended D16S84 locus with respect to the chromosome. The new markers and physical map described here provide an improved framework for attempts to clone the PKD1 region and to identify polycystic kidney disease mutations.
We describe eight patients who have alpha thalassemia which cannot be accounted for by the Mendelian inheritance of abnormal alpha globin genes. Apart from the hematologic abnormality, the other universal clinical finding is mild to moderate mental handicap; there is also a broad spectrum of associated dysmorphic features. Initial analysis of the alpha globin gene complex (which maps to chromosome band 16p13.3), demonstrated that the alpha thalassemia results from failure of the patient to inherit an alpha globin allele from one of the parents. Using a combined molecular and cytogenetic approach, we have extended this analysis to show that all of these patients have 16p deletions which are variable in extent but limited to the terminal band 16p13.3; in at least four cases the deletion results from unbalanced chromosome translocation, and hence aneuploidy of a second chromosome is also present. The relatively nonspecific clinical phenotype contrasts with the other currently known microdeletion syndromes; this may reflect ascertainment bias in the recognition of such syndromes. This work represents the first step in the characterization of a new microdeletion syndrome that is probably underdiagnosed at present.
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.
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.
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.
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.
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.
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.
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.