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Biomedical subjects

A Winder

Publications and source records attributed to A Winder.

At least 19 recordsLinked to original sources

Continence assessment in primary care: what is the next step?

There are many assessment 'forms' available for the collection of information in relation to bladder dysfunction. In many cases such forms have not been fully validated and should only be considered on a face validity basis. Validated symptom scores are available but these are generally used within specific areas of urology, e.g. lower urinary tract symptom scores for prostate screening. This article explores the need for an improved validated assessment and symptom scoring tool for nurses within primary care, to enable nurses to establish a preliminary diagnosis in adult patients presenting with bladder symptoms.

Humans↗

[Anthrax].

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Animals↗

Oculoauriculovertebral abnormalities in children of diabetic mothers.

Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks.

Abnormalities, Multiple↗

Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation.

OBJECTIVE: To report on the occurrence of methylenetetrahydrofolate reductase (MTHFR) deficiency in patients with retinal vein occlusion (RVO). DESIGN: Prospective case series PARTICIPANTS: Fifty-nine consecutive patients with newly diagnosed RVO seen at the Retina Unit in the Tel Aviv Medical Center during 1997. METHODS/TESTING: Interviews and multiple blood analyses were done. Data were compared to the reported incidence of MTHFR deficiency in the Israeli population at large. RESULTS: Twenty-six patients (44.1%) were heterozygotes and 11 (18.6%) were homozygotes for 677C-T mutation in MTHFR. The MTHFR 677C-T homozygosity was documented as being present in 10.4% of healthy individuals in the Israeli population. The difference in homozygosity was found to be statistically significant (P = 0.038). CONCLUSIONS: Retinal vein occlusion may be associated with a mutation in MTHFR.

Adult↗

The early cardiovascular toll of cigarette smoking in dyslipidaemic patients in the United Kingdom.

Relationships between early cardiovascular risk at mean follow-up 1. 8 years and cigarette smoking status were investigated through analysis of data from participating clinics entered from 1981-1994 in the UK-Lipid Clinics Programme computerised database. Lipid profiles and new cardiovascular events were recorded for 3601 male, 4883 female human non-smokers mean age 44.7 and 53.1 years, 3077 male, 2275 female current smokers age 46.3 and 50.3 years and 7210 male, 4559 female age 49.2 and 53.3 years ever-smokers. Levels of triglycerides and total cholesterol increased across the gradient never/ex/current smoker, with a reverse gradient for HDL-cholesterol. Never-smokers were slightly lighter than other groups and males were younger, differences insufficient to explain the lipid variation. Minor differences in blood pressure between groups did not show this gradient and the development of new hypertension was not consistently related to smoking habits. In contrast the expression of newly-recorded cardiovascular disease was greater and in some categories doubled for current or ex-smokers in contrast with never-smokers. This survey emphasises first, the continuing inadequacy of stop-smoking support even at specialist clinics, second, that patients who give up smoking are to be congratulated and benefit in the long-term but third, that the change in status can be recent and classification as ex-smoker can conceal high short-term risk, for which lipid profiles may also be significant and justify priority attention in management.

Cardiovascular Diseases↗

High-dose intravenous gamma-globulins for heparin-induced thrombocytopenia: a prompt response.

Heparin-induced thrombocytopenia (HIT) is a common drug induced autoimmune condition. The thrombocytopenia is caused in most cases by an antibody directed against the complex PF4/heparin. Recently, we have induced an experimental model of HIT by idiotypic manipulation. To confirm further the idiotypic involvement of HIT, we have treated successfully three patients with HIT with high-dose intravenous gamma-globulin (IVIG). Our three patients joint other two cases previously reported who were treated with IVIG and point to the efficacy of this type of therapy with minimal side effects. IVIG suppression of the anti-PF4/heparin autoantibody may support the idiotypic etiology of HIT.

Aged↗

Bilateral retinal vein occlusion associated with 5,10-methylenetetrahydrofolate reductase mutation.

PURPOSE: To report on the occurrence of 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency, known to cause mild to moderate hyperhomocystinemia and increased risk of vascular occlusive disease, in a young patient with bilateral central retinal vein occlusion. METHODS: A 25-year-old man was initially examined with central retinal vein occlusion in the right eye, followed 4 months later by a central retinal vein occlusion in the left eye. Studies for risk factors predisposing to thrombosis were performed. RESULTS: Hematologic studies failed to detect any pathology. However, the patient was found to be homozygous for 677C-T mutation in MTHFR enzyme. CONCLUSION: Central retinal vein occlusion may be associated with a mutation in MTHFR.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗

Increased adhesiveness of peripheral blood leukocytes corresponds to the appearance of expansion following anterior wall myocardial infarction.

The appearance of increased leukocyte adhesiveness/aggregation as an inflammatory marker in the peripheral blood of patients with anterior wall myocardial infarction was monitored. Of the 26 patients included in the study, 7 had infarct expansion as shown by an enlargement of left ventricular end-diastolic volume. The percent of aggregated leukocytes in the peripheral blood of patients with expansion (29.7 +/- 15.5%) was significantly higher (p = 0.01) than that obtained from patients with no expansion (18.5 +/- 6.8%). The lack of significant differences in peak creatine kinase concentrations between patients with and without expansion suggests that infarct size is not necessarily the main determinant for the appearance of expansion; an increased inflammatory reaction could be a contributory factor.

Cell Adhesion↗

The acute rise in plasma fibrinogen concentration with exercise is influenced by the G-453-A polymorphism of the beta-fibrinogen gene.

We have investigated the effects of chronic physical training and acute intensive exercise on plasma fibrinogen levels and the relationship of these responses to beta-fibrinogen G-453-A polymorphism genotype. One hundred fifty-six male British Army recruits were studied at the start of their 10-week basic training, which emphasizes physical fitness. Cohorts were restudied between 0.5 and 5 days after a major 2-day strenuous military exercise (ME) undertaken in their final week of training. Changes in fibrinogen concentration were adjusted for the effects of age, body mass index, and smoking history. Compared with baseline values, fibrinogen concentrations were significantly lower (11.9%, P=.04) at day 5 after ME, consistent with the beneficial effect of training. However, they were higher on days 1 through 3 after ME (suggesting an "acute-phase" response to strenuous exercise) and were maximal on days 1 and 2 (27.2%, P<.001 and 37.1%, P<.001 respectively). Fibrinogen genotype was available in 149 individuals. As expected from previous studies, men with one or more fibrinogen gene A-453 alleles had plasma fibrinogen concentration slightly but significantly higher at baseline (4.5%, P=.11). During the acute-phase response (days 2 and 3), however, the degree of rise was strongly related to the presence of the A allele, being 26.7+/-5.4% (mean+/-SE), 36.5+/-11.0%, and 89.2+/-30.7 for the GG, GA, and AA genotypes, respectively (P=.01). These results confirm that chronic exercise training lowers plasma fibrinogen levels, that intensive exercise generates an acute-phase rise in levels, and that this acute response is strongly influenced by the G/A polymorphism of the beta-fibrinogen gene.

Adolescent↗

[Plague].

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Humans↗

Increase in leukocyte adhesiveness and aggregation with stress: a model of human congestive heart failure.

Stress has a significant influence on the function of the human organism. A simple, rapid, inexpensive, and reliable marker for stress would therefore be of great value. We have recently noted that stress increases the state of leukocyte adhesiveness and aggregation in the peripheral blood. We evaluated 64 patients who had various degrees of congestive heart failure, a condition known to induce a state of physiologic stress, to verify whether a relation exists between the intensity of the stress response and the magnitude of leukocyte adhesiveness. Included in the 64 were 53 patients without congestive heart failure, 23 with compensated failure, 22 with significant congestive heart failure, and 19 with florid pulmonary edema. The percentage of aggregated leukocytes in these four group was 6% +/- 4%, 6% +/- 4%, 10.5% +/- 5%, and 15% +/- 14%. Values for the third and fourth group differed in a statistically significant way. Thus, with further investigation into additional stress-inducing conditions, the state of leukocyte adhesion and aggregation may prove to be a reliable marker for the detection of stress and an inexpensive tool for quantifying its severity.

Adhesiveness↗

Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis.

Several genes critical to the enzymatic regulation of melanin production in mammals have recently been cloned and mapped to the albino, brown and slaty loci in mice. All three genes encode proteins with similar structures and features, but with distinct catalytic capacities; the functions of two of those gene products have previously been identified. The albino locus encodes tyrosinase, an enzyme with three distinct melanogenic functions, while the slaty locus encodes tyrosinase-related protein 2 (TRP2), an enzyme with a single specific, but distinct, function as DOPAchrome tautomerase. Although the brown locus, encoding TRP1, was actually the first member of the tyrosinase gene family to be cloned, its catalytic function (which results in the production of black rather than brown melanin) has been in general dispute. In this study we have used two different techniques (expression of TRP1 in transfected fibroblasts and immunoaffinity purification of TRP1 from melanocytes) to examine the enzymatic function(s) of TRP1. The data demonstrate that the specific melanogenic function of TRP1 is the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) to a carboxylated indole-quinone at a down-stream point in the melanin biosynthetic pathway. This enzyme activity appears to be essential to the further metabolism of DHICA to a high molecular weight pigmented biopolymer.

Animals↗

Lipoprotein lipase activity in patients with combined hyperlipidaemia.

The aetiology of familial combined hyperlipidaemia remains obscure, with both genetic and environmental factors contributing to the phenotype, which is frequently associated with premature coronary heart disease. We have studied lipoprotein lipase (LPL) activity and hepatic lipase (HL) activity in patients with coronary heart disease to determine whether variation in lipase activities contributes to this phenotype. Forty-one patients (mean age 50 years; 30 male) were selected on the basis of cholesterol levels above 6.5 mmol/l and triglyceride levels above 2.2 mmol/l, with apoprotein B values over the 90th percentile. There was a family history of premature coronary heart disease in 78% and a personal history in 64%, at mean age 44, the patient group therefore predominantly corresponded to the common definition of familial combined hyperlipidaemia, appropriate in the absence of molecular markers. None of the patients was diabetic; hypertension and smoking were not over represented. Blood samples were taken following intravenous administration of heparin (100 IU/kg body wt), and LPL and HL activities were measured. Mean post-heparin LPL was significantly lower in patients than controls 10 min after heparin administration (2.98 +/- 1.04 and 3.86 +/- 0.93 mumol ml-1 h-1, respectively, P = 0.001), and 37% patients had values below the 10th percentile of controls. Both male and female patients had significantly higher HL activities than their respective controls at 5, 10, 20 and 30 minutes post-heparin. As expected, both female patients and controls had lower HL activities than males, although this sex difference did not reach statistical significance in the patient group.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗