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Biomedical subjects

S Ball

Publications and source records attributed to S Ball.

At least 127 records · Page 7Linked to original sources

Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19.

Two common restriction fragment length polymorphisms detected with cloned gene probes for apolipoprotein CII (apo CII) have been used to study the inheritance of the gene in families segregating for loci on chromosome 19. Lod scores for APOC2 with the gene for complement component 3 (C3) exclude close linkage and give a maximum at a male recombination fraction of 0.25-0.30. Lod scores for APOC2 and FHC, the gene causing familial hypercholesterolaemia, are negative in males and suggest the genes may not be linked. However, it appears that APOC2 may be closely linked to the blood group loci Lutheran (Lu) and Secretor (Se), and probably less closely linked to Lewis (Le). These data are consistent with the gene order: FHC-----C3-----(Lu, Se, APOC2)

Apolipoprotein C-II↗

Platelet associated immunoglobulins (PAIgG and PAIgM) in autoimmune thrombocytopenia.

An enzyme linked assay system was used to quantitate platelet associated IgM (PAIgM) in addition to platelet associated IgG (PAIgG) in normal subjects and in 145 patients with autoimmune thrombocytopenia (AITP). The mean PAIgM level in normals was 1.17 ng/10(6) platelets with a range of 0.01-2.45 ng (mean +/- 2 SD). The corresponding PAIgG values as follows: mean 6.0 ng, range 2.0-10 ng/10(6) platelets. Elevated PAIgG was seen in 67.6% and abnormally raised PAIgM in 79.3% of patients. Both values were raised together in 57.2% and either elevated PAIgG or PAIgM in 89.7%. All patients with PAIgG values greater than 4 times upper limit of normality were found to have abnormal PAIgM. The relevance of elevated PAIgM, the possible interaction between PAIgG and PAIgM and the implication of our results in patients with autoimmune thrombocytopenia are discussed.

Autoantibodies↗

The relative incidence of idiopathic and secondary autoimmune thrombocytopenia: a clinical and serological evaluation in 508 patients.

Abnormally elevated levels of platelet-associated immunoglobulins were detected in 508 patients with the clinical and haematological criteria of autoimmune thrombocytopenia (AITP). In 246 patients (48.4%), thrombocytopenia was accompanied by a variety of disease entities, the most commonly associated being autoimmune disorders (21.0%) and lymphoproliferative diseases (14.8%). This group was classified as 'secondary' AITP. There was a female preponderance in both the idiopathic and secondary AITP's and peak age incidences were identified in the 3rd-4th decades and in the 7th-8th decades of life. In 253 patients, only platelet-associated IgG (PAIgG) was quantitated; there being insufficient material for further study. Both platelet associated immunoglobulins (PAIgG and PAIgM) were measured in the remaining 255 patients. When both parameters were quantitated, elevated PAIgM was seen slightly more frequently in the idiopathic group, in contrast to the secondary AITP's when PAIgG was seen more frequently abnormal. Both parameters were found most commonly elevated together in patients with systemic lupus erythematosus (SLE) and in those in whom thrombocytopenia was induced by drug intake or preceding viral illness. PAIgG and PAIgM were quantitated by modification of a previously described enzyme-linked immunoassay (Hegde et al. 1981).

Adolescent↗

Primary plasma cell leukaemia: immunological and ultrastructural studies in 6 cases.

The clinical and laboratory studies of 6 patients with primary plasma cell leukaemia are described. The leukaemic cells had a variable morphology, ranging from lymphoplasmacytic and mature plasma cells to poorly differentiated blasts. The neoplastic plasma cells had a characteristic phenotype: they were positive for CyIg and the McAb OKT10 and Ri-3, and did not express the B-cell antigens Ia, B1 and B4. Ultrastructural studies confirmed the plasma cell nature of the leukaemic cells and showed the presence of a meshwork of cytoplasmic fibrils in 50 to 90% of the neoplastic cells from all cases. The distinct ultrastructural and immunological features of PCL described in this study will help the diagnosis and further characterisation of this disease entity.

Adult↗

Depletion of T lymphocytes in donor marrow prevents significant graft-versus-host disease in matched allogeneic leukaemic marrow transplant recipients.

For more than 15 years preclinical studies have suggested that acute graft-versus-host disease (aGvHD) might be prevented by the removal of immunocompetent T lymphocytes from the donor marrow inoculum. To test this observation in man 14 patients were given marrows virtually (greater than 99%) depleted of identifiable donor marrow T lymphocytes by the use of a "cocktail" of specific anti-T-cell monoclonal antibodies (MBG6 and RFT8) and rabbit complement. Patients were not given immunosuppressive prophylaxis after bone-marrow transplantation. Moderate to severe (grades II-IV) GvHD was totally prevented. 2 of 13 evaluable patients showed mild (grade I) skin GvHD only. Although peripheral blood recovery was slower than that obtained with other forms of GvHD prophylaxis, no fatal infections occurred. All patients survived the early post-transplant period.

Acute Disease↗

Angiotensin II levels, hemodynamics, and sympathoadrenal function after low-dose captopril in heart failure.

The angiotensin converting enzyme inhibitor captopril improves the altered hemodynamics in many patients with chronic heart failure, but the first dose may precipitate hypotension. Ten patients with chronic heart failure were studied, nine with high plasma concentrations of renin and one with a low concentration. Frequent measurements of plasma concentrations of angiotensin II, renin, and catecholamines were made over 60 minutes after a small dose (6.25 mg) of captopril and related to concurrently measured hemodynamic variables. Captopril caused a decrease in systemic and pulmonary artery pressure and an increase in cardiac index, and these changes coincided with reductions in the plasma concentrations of angiotensin II and increases in plasma concentrations of renin. The hemodynamic changes were accompanied by reductions in the plasma concentrations of norepinephrine but transient increases in plasma concentrations of epinephrine in patients in whom vasomotor syncope developed. The patient with a low plasma renin concentration showed little hemodynamic response to the drug. It is concluded that vasomotor syncope occurs quite frequently in patients with severe chronic heart failure after captopril in a small dose and is associated with a selective increase in epinephrine secretion from the adrenal medulla.

Aged↗

Daytime alertness in relation to mood, performance, and nocturnal sleep in chronic insomniacs and noncomplaining sleepers.

Nocturnal sleep was recorded prior to daytime testing that included the Multiple Sleep Latency Test, profile of mood states, card sorting, and Stanford Sleepiness Scale in 138 volunteers with the complaint of chronic insomnia and 89 noncomplaining sleepers ("normals"). In both groups daytime sleep tendency had no significant linear correlation either with any Minnesota Multiphasic Personality Inventory scale or with tension/anxiety and other moods assessed in the morning. In normals, speed of card sorting but not subjective sleepiness tended to correlate with sleep tendency. Given that physiological sleepiness is the most predictable consequence of sleep deprivation in normals, it is particularly interesting that 14% of the insomniac group are chronic insomniacs with no measurable daytime sleep tendency. Despite this lack of sleep tendency during the day, their nocturnal sleep was just as poor as insomniacs with greater daytime sleep tendency. The lack of daytime sleepiness seen in this subgroup may reflect a basic pathophysiological aspect of their insomnia.

Adult↗

Genetic linkage between the loci for myotonic dystrophy and peptidase D.

In a linkage study between myotonic dystrophy and peptidase D it is evident from the lod score values that with high probability theta lies between 0 and 0.1. The data thus support a previous hint of linkage between peptidase D and the Lutheran and secretor loci, which were already known to be linked to myotonic dystrophy.

Adult↗

Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

Variations in DNA sequence generate polymorphisms which can be followed through families. A cloned gene specific probe for human complement 3 (C3) was hybridised to DNA samples digested with restriction endonucleases. The C3 probe detects several restriction fragment length polymorphisms (RFLPs) that occur frequently in the general population. These DNA alleles can be readily used in linkage analyses of loci on chromosome 19, since most families studied are informative. The inheritance of one such polymorphism was followed through myotonic dystrophy families. The segregation data for both the C3 protein polymorphism and the C3 RFLP support the linkage of myotonic dystrophy (DM) and C3.

Chromosome Mapping↗

Hyperthermia-induced intracellular ionic level changes in tumor cells.

The intracellular content of potassium (K) ions in P815 cells decreases when the media pH is lowered, and it increases when media pH is raised. The determination of the ion content therefore requires accurate control of the medium pH. The K ion content measured both by the flame emission method and by the K analog. 86Rb, exhibits a decline when the cells are incubated at 43 degrees C at a fixed pH chosen between 7.4 and 6.7. The chloride content also decreases while the sodium content does not change by a significant amount. Under the same hyperthermic conditions the intracellular pH decreases by a fraction of a pH unit. Simultaneously, the cell water volume increases by 20%, as measured by tritiated water. In the final analysis, hyperthermia produces an apparent deficit in the cellular osmolarity. A possible explanation is given.

Animals↗

Influence of the renin-angiotensin system in the renal haemodynamic responses to modest renal nerve stimulation in the rat.

The renal nerves of the left kidney of sodium-replete anaesthetized rats were stimulated for 30-min periods at 2-3 Hz (15 V, 0.2 ms). Renal blood flow was reduced by 22% and glomerular filtration rate by 14% which resulted in a rise in filtration fraction of 12%. Circulating plasma renin activity was increased by 30% during such nerve stimulation. In rats treated for 3-4 weeks with deoxycorticosterone acetate (DOCA) and saline (150 mM-NaCl) basal values of arterial blood pressure, renal blood flow, glomerular filtration rate and filtration fraction were not significantly different from those observed in sodium-replete rats. However, plasma renin activity was lower, being approximately one-third of that observed in sodium-replete animals. Stimulation of the renal nerves in rats treated with DOCA and saline resulted in a fall in renal blood flow of 32% and a much larger fall in glomerular filtration rate of 33% which resulted in no change in filtration fraction. Plasma renin activity was not changed by renal nerve stimulation in the animals treated with DOCA and saline. It is suggested that these renal responses provide evidence in the rat for a role of locally generated angiotensin II in regulating glomerular filtration rate during electrical activation of the renal nerves by causing preferential vasoconstriction of the efferent arteriole.

Animals↗