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Biomedical subjects

W Simpson

Publications and source records attributed to W Simpson.

30 records · Page 2Linked to original sources

Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27).

Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.

Abnormalities, Multiple

Problems associated with the identification of bordetella bronchiseptica.

Bordetella bronchiseptica, isolated from rodent nasopharygeal swabs, failed to produce characteristic colonies after 24 hours incubation at 37 degrees C. 4-7 days incubation at 37 degrees C was required to achieve positive motility test results, when isolates later identified as B. bronchiseptica were tested by Craigie tube and soft agar stab methods. The biochemical tests used to identify suspected B. bronchiseptica are specified.

Animals

Dienes typing of Proteus strains isolated from barrier-maintained animals.

The possible use of Dienes' phenomenon for typing proteus strains as an aid to bacteriological monitoring of barrier-maintained animal units was investigated. It was rare for more than 1 Dienes' type to be isolated from an individual animal. A persistent relationship between 1 or 2 Diene's types and each strain of animal was demonstrated, although these same types were shown to be capable of causing clinical disease in their normal host. The findings suggest that Dienes' phenomenon may be of value in detecting outside contamination of barrier-maintained animals and also might usefully be applied to experimental epidemiological studies.

Animals

Bone disease in long-term haemodialysis: the association of radiological with histological abnormalities.

The radiological findings in the skeletal surveys of 70 patients receiving long-term haemodialysis for chronic renal failure have been correlated with histological findings in a specimen obtained by biopsy of the iliac crest. Many significant associations were found, and the ones presented are those thought to be most useful in the interpretation of the radiological abnormalities. The main conclusions are that fractures and severe medullary rarefaction appear to be most commonly the result of osteomalacia; subperiosteal erosions are associated with the more severe grades of osteitis fibrosa; cortical striations and sclerosis are associated with an increased amount of osteoid, and sclerosis is diagnosed more frequently by radiological means than by iliac-crest biopsy.

Adult

Surgical treatment of congenital defects in the abdominal wall.

A series of 28 patients is presented with the two conditions of omphalocoele and gastroschisis treated over a five-year period . Improved survival can be obtained by the use of staged procedures with a silastic prosthesis plus intravenous alimentation with later definitive operation. If peripheral veins are used, serious complications are almost totally avoided. This combined form of therapy is the treatment of choice in infants with massive defects in the abdominal wall.

Abdominal Muscles

Long term therapy with 1,25(OH)2D3 in dialysis bone disease.

Five patients with haemodialysis bone disease were treated with 1 to 1.5 mug of 1,25 (OH)2D3 daily for periods ranging from 6 -8 months. There was a significant improvement in calcium absorption but no troublesome hypercalcaemia was encountered. Secondary hyperparathyroidism improved, both histologically and radiologically, and there was a fall in serum PTH and return of serum alkaline phosphatase to within normal limits. There was also improvement in the patients' mineralisation status, but this change was slower and less marked. Muscle power improved significantly, both clinically and electromyographically.

Calcium

Avascular necrosis of bone following renal transplantation.

Assessment of 78 successful renal transplants carried out in Newcastle upon Tyne between October 1967 and March 1973, revealed avascular necrosis of bone (A.N.) in 11 patients (14 percent). Pain and restriction of movement were the cardinal symptoms, while the onset was from five to 35 months after transplantation. In some patients one joint only was affected but in seven patients (64 per cent) A.N. developed in other joints too in an additive and progressive fashion. A time lag was usually noted between the onset of symptoms and radiological proof. These 11 patients with A.N. were compared with two control groups of unaffected renal transplant patients. Taking into account the patients' body weight, the cumulative dose of prednisone received by affected patients during the first three post-transplant months was found to be significantly higher than that for both control groups (P less than 0.05). Patients with A.N. were found to have had an unusually high incidence of early post-transplant surgical complications and the length of their initial stay in hospital was significantly prolonged (P less than 0.02) when compared to both control groups. It is possible that excessive corticosteroid therapy is more deleterious in transplant patients weakened by peri-renal haematomas, urinary extravasations and stormy prolonged post-operative periods. Having emphasized the detrimental effects of excessive anti-rejection corticosteroid therapy it must be mentioned that occasionally patients develop avascular necrosis even after low doses of steroid therapy, while others, receiving high doses of steroid therapy and undergoing a stormy post-operative course, do not develop this complaint. It is suggested that although excessive steroid therapy is positively harmful, avascular necrosis is not an invariable complication and that ofther factors including possibly a genetic predisposition operate to produce avascular necrosis of bone in renal transplant patients.

Adult

Assessment of renal osteodystrophy following renal transplantation.

Serial histological studies in patients after successful renal transplantation indicate that with restoration of adequate renal function osteomalacia invariably improves with symptomatic relief in bone pain. Histological changes of osteitis fibrosa resolve more slowly and radiological changes may persist longer, occasionally in the absence of confirmatory histological evidence of secondary hyperparathyroidism. For accurate and sensitive follow-up a combination of biochemistry, histology and radiology is desirable.

Alkaline Phosphatase

Simplified protocol for management of malar fractures.

Our simplified protocol for the management of malar complex fractures of facial bones has shortened the operating time by one third to one fourth, produced consistent, satisfactory results, and reduced intraoperative and postoperative complications. In addition, with moderate training of residents, it has been installed as the primary method of treatment of this type of facial fracture in a residency training program that has a heavy load of these patients.

Fracture Fixation, Internal