Search PubMed⌕ Search

Biomedical subjects

J R Pincott

Publications and source records attributed to J R Pincott.

At least 37 records · Page 2Linked to original sources
PubMed1983

Haemorrhagic shock and encephalopathy: a new syndrome with a high mortality in young children.

In the past year, ten infants have been admitted to hospital with a new or previously unrecognised disorder, characterised by an acute onset of encephalopathy, fever, shock, watery diarrhoea, severe disseminated intravascular coagulation, and renal and hepatic dysfunction. Seven of the infants died. No specific causative agent has been identified, but preliminary studies suggest that the pathophysiology of the disease may involve release of proteolytic enzymes (such as trypsin) into the circulation, with destruction of the microcirculation.

Acute Disease↗
PubMed1983

Goodpasture's syndrome: treatment with plasmapheresis, immunosuppression, and anticoagulation.

We report 3 children with Goodpasture's syndrome. In 2 children the diagnosis was delayed, treatment began late, and they did not recover renal function. In the third child early diagnosis and intensive treatment with plasmapheresis, immunosuppression, and anticoagulation resulted in an initial return of renal function after a prolonged period of anuria. In this child, however, although there was no evidence of disease activity, further deterioration of renal function subsequently occurred.

Anti-Glomerular Basement Membrane Disease↗
PubMed1983

Tibial dysplasia. A study of the anatomy.

Three amputated legs with tibial dysplasia were studied by radiography, arteriography and anatomical dissection. The radiographic appearances were the same as the Type 1b tibial dysplasia described by Jones, Barnes and Lloyd-Roberts (1978) in that the tibiae were absent but the lower femoral epiphyses were normal. However, our anatomical findings differed from those of Jones et al. since no bony or cartilaginous anlage of the proximal tibia was found in any of the three legs. The pattern of vascular anomaly was identical in the three legs and similar to the findings of Hootnick et al. (1980) in congenital short fibula. Congenital fusion of the subtalar joint was a constant finding. These results support the hypothesis that the arterial and skeletal systems are vulnerable to a teratogenic insult in the fifth week of embryonic life. The bony and arterial anomalies should be borne in mind by the surgeon attempting reconstructive surgery for this condition.

Angiography↗
PubMed1983

Desquamative interstitial pneumonia and antigen-antibody complexes in two infants with congenital rubella.

Desquamative interstitial pneumonia was observed in two infants with the late-onset congenital rubella syndrome. In both infants this unusual lung disease was associated with circulating immunoglobulin M complexes and interstitial pulmonary deposits of IgM by immunofluorescence. Both infants had IgG deficiency. The first child recovered with a reduction in IgM complex levels and synthesis of rubella-specific IgG. The second infant died during the acute phase of his illness at which time there were high serum concentrations of IgM complexes and slightly increased levels of IgG complexes. Delayed maturation of the immune response in congenital rubella may predispose to persistent antigenemia and pulmonary deposition of rubella antigen-containing IgM complexes resulting in an acute form of interstitial pneumonia.

Antigen-Antibody Complex↗
PubMed1982

The effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study.

Stage I lymphocyte-predominant Hodgkin's disease was diagnosed in a 44-month-old girl. Although immune deficiency was suspected and IgA deficiency demonstrated, the diagnosis of an ataxia-telangiectasia (AT)-like syndrome was not confirmed until eight weeks later when results of studies on the radiosensitivity of cultured skin fibroblasts were available. The child had none of the usual physical stigmata of AT. Severe acute radiation damage followed the treatment of this child with standard doses of radiation therapy. Clinical, pathologic, and radiobiologic correlations are drawn. The diagnosis of a malignant lymphoma disorder in children under the age of five should alert clinicians to the possibility of immune deficiency and, even in the absence of classical physical signs, to AT in particular. Suggestions for the management of future similar cases are put forward.

Ataxia Telangiectasia↗
PubMed1982

Renal failure due to 2,8-dihydroxyadenine urolithiasis.

A four-year-old girl presented in renal failure due to dihydroxyadenine urolithiasis. Prior to this she had been fed a high purine macrobiotic diet, rich in pulses and grain. She was comatose, anuric, requiring peritoneal dialysis, and bilateral radiolucent renal calculi were revealed by ultrasonography and retrograde pyelography. 2,8-dihydroxyadenine stones were found at pyelolithotomy, renal biopsy revealed interstitial birefringent crystals, and a complete lack of adenine phosphoribosyl transferase (APRT) was found subsequently in erythrocyte lysates. APRT levels were initially falsely raised due to a blood transfusion on admission. The mother was shown to have heterozygote levels. The child was treated successfully with allopurinol, and a reduction in dietary purine but with only partial return of renal function.

Adenine↗
PubMed1982

Cranio-spinal fasciitis in infancy.

Two infants with very large, rapidly growing vascular tumours of the back are presented, one in the occipital region and one in region of the lumbo sacral spine. In both, malignant soft tissue tumours were diagnosed on clinical grounds. Histological examination of both tumours showed them to be benign and the difficulty of histopathological assessment is discussed. Both tumours were totally excised, with difficulty, and the follow-up studies confirm the benign nature of the tumours.

Carotid Arteries↗
PubMed1982

Oxalosis in infancy.

We describe 3 infants with nephrocalcinosis and terminal renal failure. In all 3 there was widespread oxalate deposition: biochemical evidence of primary hyperoxaluria was sought but the presence of severe renal failure and the lack of established normal values for urinary and plasma oxalate and glycollate in infants made this diagnosis difficult to establish.

Calcium Metabolism Disorders↗
PubMed1982

Combined immunological and histochemical analysis of skin and lymph node lesions in histiocytosis X.

The immunological phenotype of the cells involved in skin and lymph node lesions from two cases of histiocytosis X (H-X) were analysed by immunofluorescence techniques using combinations of heterologous and monoclonal antisera to Ia-like antigen and human cortical thymocyte (HTA-1) determinant. These cells were also characterised by a new technique using simultaneous immunofluorescence and enzyme histochemistry for acid phosphatase (ACPase). The major cell type in the lesions was found to express the same Ia+, HTA-1+ phenotype as normal epidermal Langerhans' cells (LC) and was unreactive for ACPase. Additional cell types included Ia-, HTA-1- multinucleate giant cells and residual lymphoid populations. These findings endorse previous concepts that H-X is a proliferation of abnormal LC and emphasise the heterogeneous nature of the cells involved in the disease.

Acid Phosphatase↗
PubMed1982

Experimental scoliosis in primates: a neurological cause.

Although a variety of techniques have been used with varying success to induce scoliosis in animals, primates have rarely been used. A series of monkeys is presented where scoliosis developed incidentally during the routine virulence testing of live, attenuated, oral poliomyelitis vaccines by intraspinal injection. The site and extent of histological damage in the different anatomical areas of the spinal cord were examined in 25 scoliotic monkeys and 25 matched controls. Analysis of the data demonstrated that there was significantly greater damage on the convex side of the spinal cords of the scoliotic animals, particularly in the sensory areas-the posterior horn and Clarke's column. Scoliosis was not thought to be caused by clinical poliomyelitis as the involvement of the anterior horn was not significantly greater than in the scoliotic animals than in the controls. These observations are taken to support the view that scoliosis may develop as a result of asymmetrical weakness of the paraspinal muscles due to the loss of proprioceptive innervation.

Animals↗
PubMed1981

Uric acid crystal-induced nephropathy: evidence for a specific renal lesion in a gouty family.

Gout is principally a disease of middle-aged men. There has been a lot of discussion over the cause of the renal lesion, whether it is age, hypertension or crystal induced, as single factors or in combination. We have recently been able to study renal biopsies from three related young women with an hereditary gout, and another girl with 2,8-dihydroxyadenine crystal nephropathy. All were normotensive. These findings were compared with the findings of a crystal-induced nephropathy in pigs. In the renal biopsies many stages of acute and chronic nephritis were found which were similar to the crystal nephropathy in pigs. We concluded that the cause of the original lesion in the women was crystal deposition in the tubules, that crystals were not necessary to keep a non-specific nephritis active and that age and hypertension need not be contributory factors.

Adenine↗
PubMed1980

Neuroblastoma: a review of 21 cases presenting with spinal cord compression.

The records of 21 children with neuroblastoma presenting with spinal cord compression, encountered over 17 years, were reviewed. Thirteen patients (61%) survive, free of neuroblastoma, at intervals ranging from nine months to 192 months (median, 78 months) from the time of diagnosis. The explanation for this relatively high survival rate was sought in an analysis of the cases which took into account age, site, extent of disease, and histology. The most significant features to emerge were the unusually high proportion of children under 12 months of age at presentation (11 of 21) most of whom survive (9 of 11) and the low incidence (3 of 21) of detectable at the time of diagnosis. The absence of a paraspinal mass was an unfavourable prognostic features (1 of 6 survives) whilst if a paraspinal mass was present, its anatomical level did not influence survival. In particular, children with retroperitoneal tumors fared no worse (survival, 6 of 7) than those with primary tumors at other sites (survival, 6 of 8). Morbidity was high (6 of 13), principally in infants with spinal cord compression from birth. Survival was also related to the histologic maturity of the tumor, even in the presence of metastases. Recommendations for management are made.

Catecholamines↗
PubMed1980

Shwachman's syndrome. A review of 21 cases.

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.

Adolescent↗
PubMed1979

Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman.

A woman with phenylketonuria gave birth to an infant with a cardiac defect and microcephaly despite introduction of a low-phenylalanine diet 5 weeks after conception (3 weeks after the first missed period). In maternal phenylketonuria fetal damage leading to reduced brain growth and cardiac malformations probably occurs within a few weeks of conception.

Abnormalities, Multiple↗