Associated occurrence of persistent truncus arteriosus and asplenia

Summary An infant with persistent truncus arteriosus associated with splenic agenesis and the asplenia syndrome is reported, including clinical, echocardiographic and autopsy findings. To the authors' knowledge this association has not been previously reported.     

An assay of uroporphyrinogen decarboxylase in erythrocytes

Measurement of uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) activity in erythrocytes is useful in distinguishing between familial porphyria cutanea tarda (PCT), in which UROD activities are low, and acquired PCT, in which UROD activity is normal. In this method for measuring UROD, pentacarboxylic acid porphyrinogen I (PPI) is used as substrate. A sample of the patient's whole blood is incubated with PPI at 37 degrees C for 30 min at pH 6.0. The reaction is stopped by adding trichloroacetic acid/dimethyl sulfoxide containing mesoporphyrin (internal standard). The coproporphyrin so produced is measured directly by high-performance liquid chromatography, with fluorescence detection. Our values by this method for healthy subjects and non-PCT patients ranged from 1.8 to 4.0 U/L. The CV for the assay was 10% at 1.1 U/L and 9% at 2.4 U/L. Twelve of 42 patients with PCT had low erythrocyte UROD activities. In each of six families of patients with low UROD activity we found at least one other family member with a low UROD activity in erythrocytes.     

Does changing from mercury to electronic blood pressure measurement influence recorded blood pressure? An observational study.

Mercury sphygmomanometers have been commonly used in primary care to measure blood pressure but are associated with bias. Electronic blood pressure machines are being introduced in many practices and have anecdotally been associated with higher recorded blood pressure. This study examined recorded blood pressure in four practices before and after electronic blood pressure machine introduction. No consistent change in mean blood pressure was apparent following their introduction, but there was a large and significant fall in terminal digit preference suggesting improved precision of recording.     

Effect of linoleic and oleic acids on blood pressure, blood viscosity, and erythrocyte cation transport

It has been proposed that dietary linoleic acid lowers blood pressure (BP) by being converted to arachidonic acid and prostanoids of the two-ene series. We tested the effects of linoleic acid on plasma arachidonic acid, blood pressure, blood viscosity, and RBC cation transport. Oleic acid, the major dietary monounsaturated fat and which is not a prostanoid precursor, was used as a control. Seventeen adults consumed 23 g/d of linoleic acid or oleic acid provided by genetic variants of safflower seed, each for 4 weeks in a double-blind crossover design. Linoleic and oleic acids were enriched significantly in the plasma cholesteryl esters, phospholipids and triglycerides during the respective periods of supplementation but there was no increase in arachidonate. Mean BP was 116.1/76.8 during ingestion of oleic and 113.6/74.6 during ingestion of linoleic acid (p = 0.09 systolic, p = 0.12 diastolic). The power of the study was over 75% for detecting a significant (p less than 0.05) effect of 4 mm Hg in systolic BP or diastolic BP. Whole blood and plasma viscosity, and RBC Li/Na countertransport, Na/K cotransport, and Na pump systems (Vmax) were unchanged during the protocol. Therefore, variations in dietary linoleic or oleic acids are unlikely to have major effects on BP or on several membrane-dependent erythrocyte functions related to hypertension.     

Calciphylaxis – a topical overview

'Calciphylaxis', a calcification syndrome associated with ischaemic cutaneous necrosis, is acquired naturally in humans in disease states. It is a life and limb-threatening complication, usually observed in patients with renal disease and secondary hyperparathyroidism, but known to occur in the absence of renal or parathyroid disease. The reported mortality rate, which ranges from 60-80%, relates to wound infection, sepsis and organ failure. It is a small-vessel vasculopathy, which is estimated to occur in about 4% of haemodialysis patients. Clinically, violaceous, reticulate areas of cutaneous necrosis and eschar may be evident, particularly in the extremities. In addition to the clinical picture, a raised calcium phosphorous product, an elevated parathyroid hormone level, radiographic evidence of vessel and soft-tissue calcification and the finding of mural calcification affecting small arteries and arterioles on histopathology help to confirm the diagnosis of this entity which generally has a poor prognosis. A high index of suspicion and an active multidisciplinary management approach, with rigorous attention to wound care and prevention of sepsis, are vital in the management of these patients. In this overview, we discuss the pathophysiology, clinical features and associations, risk factors, diagnosis and management issues relating to calciphylaxis.