A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibres revealed significantly higher portions of mutant mtDNA in COX-negative than in COX-positive fibres. This represents the first case of isolated COX deficiency to be defined at the molecular level.

Correlates of suffering in amyotrophic lateral sclerosis.

OBJECTIVES: 1) To determine the prevalence of pain, suffering, poor quality of life, depression, and hopelessness in people with ALS, and the correlates of suffering and poor quality of life; 2) to analyze the relationship between pain, suffering, quality of life, and attitudes toward life-sustaining medical treatment and physician-assisted suicide; and 3) to determine concordance between patients with ALS and their caregivers in rating the patients' pain, quality of life, and suffering. METHODS: Subjects completed a single interview. We measured the subject's pain, quality of life, suffering, hopelessness, depression, social support, perception of burden to others, level of disability, desire for life-sustaining medical treatment, and interest in assisted suicide. Caregivers also rated the patient's quality of life, pain, and suffering. RESULTS: A total of 100 subjects with ALS and 91 caregivers participated. Suffering was rated as 4 or greater on a six-point scale by 20% of subjects with ALS, and 19% rated their pain as 4 or greater on a six-point scale. Eleven percent had clinical depression. Physicians frequently failed to recognize and treat pain and depression. The correlates of suffering were increasing pain, hopelessness, and level of disability. The correlates of poor quality of life were poor social support and increasing hopelessness. The correlation between subjects' and caregivers' rating of the patient's suffering was r = 0.47. There was no relationship between subjects' ratings of pain, suffering, and quality of life, and their interest in life-sustaining treatment or physician-assisted suicide. CONCLUSION: Many patients with ALS suffer, and their suffering is correlated to pain and hopelessness. Physicians caring for patients with ALS frequently fail to recognize and treat their patients' pain and depression.

Palisade endings in human extraocular muscles.

The presence of nerve terminals in the tendinous insertions of human eye muscles was investigated histologically in adult human eye muscles obtained from donor eyes and in muscle pieces resected from juvenile patients undergoing surgical correction for strabismus. Lateral and medial recti, superior and inferior oblique muscles from adults, were stained "en bloc" using a silver impregnation method. Numbers of nerve terminals were isolated that resembled "palisade endings" previously described in other species. A single palisade ending usually appeared as an interwoven network of fine neural filaments that cupped the inserting tip of a single extrafusal fiber. A collection of palisade endings on several neighboring muscle fibers were supplied by a single myelinated axon that branched from a nerve bundle in the muscle mass. The presence of nerve terminals at the distal musculotendinous interface of juvenile muscle also was observed when some resected specimens of lateral and medial recti were sectioned and stained using Holmes' silver method with a picrofuschin counterstain. No conventional Golgi tendon organs were seen.

Myopathy in young cattle associated with possible myoglobinuria.

Two 10-month-old heifers from a group of 20 young stock showed symptoms closely resembling paralytic myoglobinuria. One animal died five days after the onset of the symptoms and the other recovered slowly with selenium and vitamin E therapy. Histological examination of muscle tissue from the dead animal showed a myopathy resembling that due to vitamin E deficiency.

Copper poisoning in sheep from North Ronaldsay maintained on a diet of terrestrial herbage.

Copper toxicity occurred in North Ronaldsay sheep fed on a diet of terrestrial herbage relatively high in molybdenum. Five sheep were taken from the island of North Ronaldsay, Orkney to the veterinary investigation centre at Thurso and fed solely on the herbage of the laboratory paddocks, supplemented in winter by hay made from these paddocks. The level of copper, molybdenum, zinc and total sulphur in the terrestrial herbage was analysed, together with the seaweeds which form the major part of the diet on North Ronaldsay. Serum copper, vitamin B12 and serum aspartate aminotransferase levels were obtained. Four of the five sheep died on this diet of terrestrial herbage and had liver copper levels of 1379, 1723, 2279 and 2281 mg/kg. The susceptibility of the North Ronaldsay breed of Orkney sheep to copper poisoning when first introduced to a diet of purely terrestrial herbage is demonstrated by the high liver copper levels of the four dead sheep compared to the normal serum copper levels and unimpaired health of two other breeds of sheep and a north country Cheviot cross North Ronaldsay ram.

The possible involvement of seagulls (Larus sp) in the transmission of salmonella in dairy cattle.

A series of infections in a herd of dairy cows by different salmonella serotypes over a seven year period is described. The source of infection appeared to be the private water supply contaminated by seagulls.

A survey of sheep losses and their causes on commercial farms in the north of Scotland.

A three year survey on sheep deaths and their causes was conducted on 10 commercial farms in the north of Scotland. Diseases and other trauma associated with the perinatal period accounted for 56.81% of all ewe deaths, while pneumonia, parasitic gastroenteritis, torsion of the bowel and haemorrhagic enteritis (redgut) accounted for a further 21.7%. No one disease condition predominated in the rams and hoggs. In lambs, most deaths occurred between birth and four days old (77.86%). Causes came in the form of starvation and exposure (34.2%), stillbirths (18.2%), lambing injuries (11.06%), infectious conditions (8.0%), dystocia (7.6%) and abortion (5.2%). The overall death rate among the lambs was 14.2%.

The association of non-clotting of cow's milk with scour in the single suckled beef calf.

An apparent correlation between the clotting ability of cows milk and the prevalence of scour in suckling calves was investigated. Fifty-eight per cent of the milk samples of mothers of scouring single suckled calves showed impaired clotting ability. While the cause of this remains unknown there appears to be a link with diet. The poor clotting ability is probably a contributory factor in the aetiology of scour in the suckler calf, as the abnormality has only been seen in the milk from mothers of scouring calves.

Salmonella in sewage effluent and the relationship to animal and human disease in the north of Scotland.

During the period July 1982 to December 1984, the presence of salmonella organisms was investigated at weekly intervals in the sewage system and abattoir effluent of a town in the north of Scotland. Three hundred and fifteen isolations, representing 37 different serotypes, were made which included 20 different Salmonella typhimurium phage types and four different S enteritidis phage types. Ten of the serotypes were isolated from livestock in the district during the survey as well as in the periods immediately before and after the survey. There were seven recorded incidents of human infection, involving four salmonella serotypes, only three of which were isolated concurrently from sewage.