The HGAR1 familial hypercholesterolemia pedigree

Data on 232 members of a single pedigree, descended from two pairs of original parents, were made available to the participants of Genetic Analysis Workshop 8 (GAW8). In addition to information concerning age and sex, measurements for 10 quantitative traits and genotypes at 22 polymorphic marker loci were also provided for a subset of 193 of these family members. © 1993 Wiley-Liss, Inc.     

TEN YEARS' EXPERIENCE IN LOW VISION PRACTICE

The Low Vision Clinic at the Palmerston North Hospital has now been oerating for 70 years. Over the course of these ten years a number of factors have emerged which can be as readily applied to general ophthalmological practice as to low vision practice. The philosophy of low vision care is one of which all ophthalmologists should be aware and includes factors to be taken into account when dealing with children, people in the workplace, and everyday factors involved in daily living activities, all of which are equally relevant in routine ophthalmological practice. This paper endeavours to share some thoughts on these factors and also discusses means by which the visually handicapped can be helped in areas where specialist low vision services are not readily available.     

Low HDL‐cholesterol is common in European Type 2 diabetic patients receiving treatment for dyslipidaemia: data from a pan‐European survey

Aims To measure the prevalence of low high‐density lipoprotein (HDL)‐cholesterol (men < 1.03 mmol/l; women < 1.29 mmol/l) in European Type 2 diabetic patients receiving treatment for dyslipidaemia. Methods The pan‐European Survey of HDL‐cholesterol measured lipids and other cardiovascular risk factors in 3866 patients with Type 2 diabetes and 4436 non‐diabetic patients undergoing treatment for dyslipidaemia in 11 European countries. Results Diabetic patients were more likely to be obese or hypertensive than non‐diabetic patients. Most patients received lifestyle interventions (87%) and/or a statin (89%); treatment patterns were similar between groups. Diabetic patients had [means (SD)] lower HDL‐cholesterol [1.22 (0.37) vs. 1.35 mmol/l (0.44) vs. non‐diabetic patients, P < 0.001] and higher triglycerides [2.32 (2.10) vs. 1.85 mmol/l (1.60), P < 0.001]. More diabetic vs. non‐diabetic patients had low HDL‐cholesterol (45% vs. 30%), high triglycerides (≥ 1.7 mmol/l; 57% vs. 42%) or both (32% vs. 19%). HDL‐cholesterol < 0.9 mmol/l was observed in 18% of diabetic and 12% of non‐diabetic subjects. Differences between diabetic and non‐diabetic groups were slightly greater for women. LDL‐ and total cholesterol were lower in the diabetic group [3.02 (1.05) vs. 3.30 mmol/l (1.14) and 5.12 (1.32) vs. 5.38 mmol/l (1.34), respectively, P < 0.001 for each]. Conclusions Low HDL‐cholesterol is common in diabetes: one in two diabetic women has low HDL‐cholesterol and one diabetic man in four has very low HDL‐cholesterol. Management strategies should include correction of low HDL‐cholesterol to optimize cardiovascular risk in diabetes.     

Articulation of Asthma and Its Care Among Low-Income Emergency Care Recipients

Low-income minority patients from East St. Louis, Illinois, a depressed midwestern urban city, who had visited acute care settings with asthma symptoms, participated in a focus group. Questions were constructed around the Health Belief Model to characterize participants' experiences in receiving asthma care, their confidence in long-term asthma self-management, barriers they perceived to managing their asthma, and recommendations they would make for improving asthma care in their community. Analysis of comments suggests an appreciable understanding of asthma triggers, limited coping behaviors for asthma symptoms, very limited practice of active asthma management, perception of the health care system as frequently insensitive to their needs or their knowledge of their own care, exchange of well-articulated information regarding how to deal with the system, and an apparent lack of awareness of any potential contribution of patient education or support system.     

WHO and ATPIII proposals for the definition of the metabolic syndrome in patients with Type 2 diabetes.

AIMS: Different criteria have been proposed by the World Health Organization (WHO) and by the Third Report of the National Cholesterol Education Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATPIII) for the diagnosis of the metabolic syndrome. Its identification is of particular importance for coronary risk assessment. METHODS: The prevalence of the metabolic syndrome was determined according to the two different proposals in 1569 consecutive subjects with Type 2 diabetes. RESULTS: By the WHO proposal, 81% of cases (95% confidence interval, 79-83) were labelled as metabolic syndrome. Microalbuminuria had the highest specificity (99%) and visceral obesity the highest sensitivity (93%). Seventy-eight per cent of patients (95% CI, 76-80) fulfilled the ATPIII criteria for metabolic syndrome, low HDL-cholesterol having the highest specificity (95%), elevated blood pressure having the highest sensitivity. According to both proposals, 1113 patients were positive; 183 were concordantly negative, indicative of a fairly good agreement (k statistics, 0.464). Subjects only positive for the WHO proposal were more frequently males, had a lower BMI and a higher arterial pressure. Only subjects identified by the ATPIII proposal had a significantly higher prevalence of previously detected coronary heart disease. CONCLUSIONS: Minimum criteria for the metabolic syndrome are met in most patients with Type 2 diabetes. Correct identification of the syndrome is important for an integrated approach to reduce the high costs and the associated disabilities. The ATPIII proposal more clearly identifies the burden of coronary heart disease associated with the metabolic syndrome.     

High-density lipoprotein subfractions,apolipoproteins and antipyrine clearance in normal subjects

Summary Serum high density lipoprotein (HDL) subfractions HDL₂ and HDL₃, apolipoproteins, and plasma antipyrine clearance (AP-CL) rate, an index of liver microsomal enzyme activity, were determined in 21 healthy subjects. High HDL cholesterol and HDL₂ cholesterol concentrations and HDL cholesterol/cholesterol and HDL₂/HDL₃ cholesterol ratios were associated with high AP-CL. Phenobarbital enhanced antipyrine elimination and increased the apolipoprotein A-I/A-II ratio. Subjects who had high AP-CL had a more antiatherogenic HDL subfraction and apolipoprotein profile than those with low AP-CL.     

Cholesterol atheromatous embolism: an increasingly recognized cause of acute renal failure

BACKGROUND.: Cholesterol atheromatous embolism is a systemic disease resultingfrom cholesterol crystal embolization to many organs, includingthe kidney. Vascular surgery, vascular radiology investigationsand anticoagulation have been identified as inciting factors. METHODS.: Fifteen patients with extensive atherosclerosis, presentingwith simultaneous occurrence of acute renal failure and peripheralischaemic changes were diagnosed as having acute renal failuredue to cholesterol atheromatous embolism. RESULTS.: The patients, 12 men and three women, had an average age of65 years. In one patient, spontaneous occurrence of the diseasewas observed. An inciting factor was identified in 14 patients:aortography in 10, aortic surgery in two, and thrombolysis intwo. Clinical course of acute renal failure was quite variable.Four patients required dialysis; 11 were conservatively managed.All patients had concomitant skin lesions, including digitalmottling, cyanosis and gangrene of the toes, and livedo reticularisof the lower limb and abdomen. Eosinophilia was the most commonlaboratory abnormality. The diagnosis of cholesterol atheromatousembolism was confirmed by tissue examination in eight; in threeit was based on the finding of retinal cholesterol emboli; infourpatients it was made on clinical grounds. Seven patientsdied within 36 months. Death was most commonly from cardiaccauses. CONCLUSIONS.: Since the population at risk for cholesterol embolism is growingand the disease is iatrogenic in origin, we should expect todetect cholesterol embolism with greater frequency as causeof acute renal failure in the future.     

Intakes and major dietary sources of cholesterol and phytosterols in the British diet

Cholesterol intakes in Britain have been re-estimated by analysing Total Diet samples taken in 1991 and from 1993 National Food Survey records. The Total Diet samples contained only 284 mg/day compared with 319 mg/day in 1987 and 337 mg/day in 1981, while the National Food Survey showed intakes had fallen to 238 mg/day from 259 mg/day in 1990 and 405 mg/day in 1970-75. More details of the intakes by adults in 1986/87 are given, and compared with the results from the other methods. Daily intakes of eight phytosterols were also estimated, the main ones being β-sitosterol, campesterol, stigmasterol and 57-stigmastenol whose intakes were 104, 49, 10 and 4 mg/day, respectively, in 1991. These intakes had increased since 1981, reflecting the rising consumption of vegetable oils.     

High-quality recording of bioelectric events

A multichannel instrumentation amplifier, developed to be used in a miniature universal eight-channel amplifier module, is described. After discussing the specific properties of a bioelectric recording, the difficulties of meeting the demanded specifications with a design based on operational amplifiers are reviewed. Because it proved impossible to achieve the demanded combination of low noise and low power consumption using commercially available operational amplifiers, an amplifier equipped with an input stage with discrete transistors was developed. A new design concept was used to expand the design to a multichannel version with an equivalent input noise voltage of 0·35 μV RMS in a bandwidth of 0·1–100 Hz and a power consumption of 0·6 mW per channel. The results of this study are applied to miniature, universal, eight-channel amplifier modules, manufactured with thick-film production techniques. The modules can be coupled to satisfy the demand for a multiple of eight channels. The low power consumption enables the modules to be used in all kinds of portable and telemetry measurement systems and simplifies the power supply in stationary measurement systems.     

Clinical and manometric evaluation of anorectal function following low anterior resection with low anastomotic line using an EEA™ stapler for rectal cancer

Anorectal function was evaluated in eight patients who had low anterior resection of the rectum with a low anastomotic line, using an EEA^™ stapler, with determination of function based on periodic manometric studies and clinical symptoms. Immediately following surgery all patients suffered from frequent bowel actions and soiling. These symptoms improved with time and most patients could enjoy almost normal daily life by the sixth postoperative month. One month after surgery, anal canal resting pressure and maximum squeeze pressure were significantly reduced and rectoanal inhibitory reflex was absent; neither showed a distinct tendency to improve thereafter. Rectal sensation and reservoir capacity, which also were seriously impaired, recovered satisfactorily by the time of the six-month examination. This suggests that an improvement of clinical symptoms following this operation is dependent upon the recovery of reservoir capacity and sensation of the neorectum, and that this operative procedure is a functionally acceptable option for low rectal cancer.