QJM: An International Journal of Medicine

VYSE,, T.J.;SPÄTH,, P.J.;DAVIES,, K.A.;MORLEY,, B.J.;PHILIPPE,, P.;ATHANASSIOU,, P.;GILES,, C.M.;WALPORT,, M.J.

doi: 10.1093/oxfordjournals.qjmed.a068946pmid: N/A

Abstract Summary We describe four cases (from three families) of hereditary factor I deficiency, bringing the total number of cases now reported to 23. In one family there are two affected siblings: one has suffered recurrent pyogenic infections; the other is asymptomatic. In the second family, the patient had recurrent pyogenic infections and a self-limiting vasculitic illness; in the third family, the patient suffered recurrent pyogenic and neisserial infections. All four patients had markedly reduced concentrations of C3 in the serum (family 1 propositus: 28%; family 1 asymptomatic sibling: 15%; family 2: 31%; and family 3: 31 % normal human serum) which was in the form of C3b. Low lgG2 levels may occur in primary C3 deficiency, and reduction in lgG2 concentration to 1.14 g/l (normal: 1.30–5.90 g/l) was found in the patient from family 2. Using radioligand binding assays, we demonstrated increased binding of C3b to erythrocytes in a patient with factor I deficiency. This C3b could not be cleaved by autologous serum but could be cleaved by normal serum or purified factor I. We review and compare the published cases of C3, factor H and factor I deficiency. This content is only available as a PDF. © Oxford University Press

RUDDOCK,, V.;MEADE,, T.W.

doi: 10.1093/oxfordjournals.qjmed.a068947pmid: N/A

Abstract Summary The Northwick Park Heart Study suggested that factor VII activity might be more strongly related to fatal than non-fatal events of ischaemic heart disease. We used polychotomous logistic regression to model simultaneously the probabilities of fatal events, non-fatal myocardial infarction, dying of causes other than ischaemic heart disease and of event-free survival. We followed 1459 white men aged 40–64 at recruitment for a mean period of 16.1 years. Of these, 92 died of ischaemic heart disease, 100 experienced non-fatal myocardial infarction, 173 died of other causes, and 1094 men were alive. Factor VII activity was strongly related to fatal events of ischaemic heart disease but not to non-fatal events (p=0.008). A difference of 1 SD in factor VII activity was associated with a difference of nearly 50% in the probability of dying of ischaemic heart disease, but with no difference for non-fatal myocardial infarction. This contrast was not seen for smoking, cholesterol, blood pressure, fibrinogen or factor VIII activity. High levels of VII activity may influence outcome at the time of plaque rupture and tissue factor release by enhancing thrombin production and thus fibrin deposition and platelet aggregability. The apparently differential effect of factor VII activity on fatal and non-fatal ischaemic heart disease may have important screening and prophylactic implications. This content is only available as a PDF. © Oxford University Press

MUTIMER,, D.J.;OLOMU,, A.;SKIDMORE,, S.;OLOMU,, N.;RATCLIFFE,, D.;RODGERS,, B.;MUTIMER,, H.P.;GUNSON,, B.K.;ELIAS,, E.

doi: 10.1093/oxfordjournals.qjmed.a068948pmid: N/A

Abstract Summary Hepatitis virus infection is a major cause of morbidity and mortality in sub-Saharan Africa. The high prevalence of hepatitis B virus (HBV) infection in this region is thought to be due to horizontal transmission during childhood. Hepatitis C virus (HCV) infection is also quite prevalent in Africa, but the epidemiology of this infection has yet to be defined. We examined the prevalence of HBV and HCV serological markers in 220 patients attending sickle-cell anaemia clinics in Benin City, Nigeria, in 228 healthy locals, and in 104 local commercial blood donors, to test the hypothesis that patients requiring blood transfusion from unscreened commercial blood donors (in this area of high prevalence for viral hepatitis) are at great risk for the acquisition of post-transfusion hepatitis. Overall, the frequency of hepatitis viraemia in blood donors was high (14% of donors were either HbsAg or anti-HCV positive). Evidence of previous exposure to HBV was common in all three study groups. Risk of HBV infection for sickle-cell patients was not clearly increased by blood transfusion. HCV exposure, however, appears related to transfusion requirement, and all Western-blot-confirmed anti-HCV-positive sicklers had a history of blood transfusion. Screening of blood products in sub-Saharan Africa is unlikely to reduce prevalence of HBV, but may minimize the risks of HCV transmission. This content is only available as a PDF. © Oxford University Press

CONNOLLY,, J.O.;HIGGINS,, R.M.;WALTERS,, H.L.;MACKIE,, A.D.R.;DRURY,, P.L.;HENDRY,, B.M.;SCOBLE,, J.E.

doi: 10.1093/oxfordjournals.qjmed.a068949pmid: N/A

Abstract Summary Atherosclerotic renovascular disease (ARD) is an increasingly important cause of renal failure. However, important features of the clinical presentation are not fully described, and the outcome after intervention by angioplasty remains controversial. Ninety-four patients with ARD diagnosed at angiography were reviewed. Twenty-four patients were diabetic. Thirty-nine patients had unilateral renal artery stenosis or occlusion (group A), 28 had bilateral stenosis (group B), and 27 had unilateral occlusion plus contralateral occlusion or stenosis (group C), Two years after presentation, actuarial patient survival was 96%, 74.3% and 47.1% in groups A, B and C, respectively (p<0.001 for all differences); actuarial renal survival in surviving patients was 97.3%, 82.4% and 44.7%, respectively (p<0.001 for all differences). Percutaneous transluminal balloon angioplasty (PCTA) was performed in 74 patients. Renal function improved in only a minority of cases, but was stable in 73% of nondiabetic patients 12 months after PCTA. Angioplasty was less effective in diabetic subjects, with only 53.3% having stable renal function at 12 months follow-up. Renal and patient survival were strongly related to the initial angiographic findings. In nondiabetic subjects, PCTA resulted in stabilization of renal function for at least one year in nearly threequarters of cases, which suggests a benefit from intervention in this disease whose natural history is otherwise of progression. This content is only available as a PDF. © Oxford University Press

CHALMERS,, R.M.;HOWARD,, R.S.;WILES,, C.M.;SPENCER,, G.T.

doi: 10.1093/oxfordjournals.qjmed.a068950pmid: N/A

Abstract Summary We describe 53 patients who received ventilatory support with a rocking bed. Diagnoses included previous poliomyelitis (30), muscular dystrophy (12), motor neurone disease (4), adult-onset acid maltose deficiency (4) and a miscellaneous group (3). Patients presented with respiratory insufficiency characterized by diaphragm weakness, progressive nocturnal hypoventilation and/or acute or chronic respiratory failure. Domiciliary rocking beds were used by 43 patients for a mean of 16.0 years (range 1 month to 35 years). Most patients were able to breathe adequately by day when sitting or standing, but needed assistance by rocking bed for 6–11 h when lying down for sleep. The rocking bed was well-tolerated, and associated with both symptomatic relief and amelioration of arterial blood gas abnormalities. Seventeen of these 43 patients discontinued its use, either because of discomfort (9) or increasing respiratory insufficiency (8). The rocking bed is a valuable adjunct in the management of the respiratory insufficiency associated with neuro-muscular disease. This content is only available as a PDF. Author notes *Present address: University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW © Oxford University Press

WING,, J.R.;, VAN DER MERWE, M.T.;JOFFE,, B.I.;PANZ,, V.R.;SEFTEL,, H.C.

doi: 10.1093/oxfordjournals.qjmed.a068951pmid: N/A

Abstract Summary We used the hyperinsulinaemic euglycaemic clamp method to assess insulin-mediated glucose disposal in ten black South African patients with newlydiagnosed essential hypertension, compared to ten normotensive controls. The patients were all nonobese with normal glucose tolerance. Comparisons were made before and 12 weeks after treatment with a long-acting ACE inhibitor. The mean glucose disposal (M) and disposal expressed as glucose sensitivity index (M/l) were significantly reduced in the hypertensives vs. controls (M: 6.8±0.9 vs. 9.7±0.8 mg/kg/min; M1: 7.1±1.0 vs. 12.5±1.7 mg/kg/min/mU/l×100) (p=0.03 and 0.01, respectively). Following therapy, M/l increased in the patients to values not significantly different to those of the controls. Insulin resistance is an independent feature of essential hypertension in black South African patients, and is partially corrected by treatment with a long-acting ACE inhibitor. This content is only available as a PDF. © Oxford University Press

FLYNN,, M.D.;SHORE,, A.C.;SANDEMAN,, D.E.;MAWSON,, D.;DONOHOE,, M.;TOOKE,, J.E.

doi: 10.1093/oxfordjournals.qjmed.a068952pmid: N/A

Abstract Summary Steroid hormones influence mechanisms related to oedema formation, including postural vasocon-striction and vascular tone. We studied fifteen patients (7 male, 8 female) with primary adrenal failure on clinically optimal replacement therapy. Five patients, all female, had clinically detectable oedema. Patients with oedema had evidence of mineralocorticoid deficiency, with increased supine and erect plasma renin activity and greater postural fall in blood pressure. Mean morning plasma cortisol levels were significantly higher in the group with oedema, suggesting they were receiving insufficient mineralocorticoid and a possible relative excess of glucocorticoid. There were no significant differences between patients with and without oedema in lower-limb cutaneous blood flow or in postural vasocon strictor responses measured by laser Doppler flow-metry. The mechanism of oedema formation is unclear, but appears not to be modulated by haemo-dynamic mechanisms with expansion of intravascular volume or, in contrast to the known effects of sex hormones, by impairment of postural vasocon-striction. Theoretically, excess glucocorticoid replacement may result in oedema formation, by direct action on vascular tone, by altering capillary permeability, or by influencing other factors such as atrial natiuretic peptide. Measurement of plasma renin activity in conjunction with plasma cortisol profiles may be useful in adjusting replacement therapy in patients with Addison's disease and oedema. This content is only available as a PDF. © Oxford University Press

Gardner,, W.

doi: 10.1093/oxfordjournals.qjmed.a068953pmid: N/A

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