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PubMedDate not supplied

[Diagnostic delay in Horton's disease. Analysis of the diagnostic delay based on a retrospective study of 130 cases].

Temporal arteritis (Horton's disease) is a multifocal granulomatous arteritis which affects elderly people. Its prognosis depends upon the risk of blindness. In a retrospective study of 130 patients we paid special attention to the delay in diagnosis and its relation to the occurrence of ophthalmic complications. In 73 patients (56.2%), this delay exceeded 3 months and reached more than one year in 22 of them. It was not influenced by age or sex. In requests for admission, the diagnosis of temporal arteritis was suggested in only 28 of the 130 cases; 17.7% of the patients were blind. There was a significant increase in the occurrence of ophthalmic lesions when the diagnosis was delayed by 2 to 6 months. In 6 cases, blindness had been preceded by transient amaurosis. These findings confirm that temporal arteritis is belatedly diagnosed by practitioners and that blindness could be avoided by an earlier diagnosis.

Aged↗
PubMed1997

Motor/psychomotor dysfunction in normal aging, mild cognitive decline, and early Alzheimer's disease: diagnostic and differential diagnostic features.

To determine the association between cognitive dysfunction and motor behavior in older adults, 41 cognitively normal elderly (NL), 25 nondemented patients exhibiting mild cognitive impairment (MI) and at risk for future decline to dementia, and 25 patients with mild (early) Alzheimer's disease (AD) were examined using a wide array of motor/psychomotor and cognitive assessments. The three groups were recruited from an aging and dementia research center and were composed of well-characterized physically healthy volunteers, with similar ages and gender distributions. The outcome measures included 16 motor/psychomotor tests categorized a priori into gross, fine, and complex, as well as eight cognitive tests of memory and language. Relative to the NL group, MI individuals performed poorly on cognitive, fine, and complex motor measures but not on gross motor tests; AD patients performed worse on cognitive and all motor domains. Differences in complex motor function persisted after adjustment for performance on cognitive and on less complex motor tests. Classification analyses showed similar accuracies in discriminating NL from MI and NL from AD cases for both complex motor (79% and 92% accuracy, respectively) and cognitive tests (80% and 93% accuracy, respectively). Less complex motor tests produced poorer accuracies. Among nondemented subjects, education correlated with several cognitive scores but no motor scores. These results indicate that motor impairment is an important aspect of cognitive decline in older adults. Motor/psychomotor assessments were found to be comparably sensitive to traditional tests of cognitive function in identifying persons affected by the earliest stages of AD pathology and may improve identification of at-risk nondemented elderly, especially among diversely educated individuals.

Aged↗
PubMed1981

Cell electrophoresis for diagnostic purposes. I. Diagnostic value of the electrophoretic mobility test (EMT) for the detection of gynaecological malignancies.

Lymphocytes from 278 gynaecological patients (100 controls and 178 patients with a malignant condition) have been investigated for their response to encephalitogenic factor, cancer basic protein, and KCl extract of adenocarcinoma of the body of the uterus as "antigens", using tanned sheep erythrocytes ETS as indicator particles in the electrophoretic mobility test (EMT). Electrophoretic mobility was measured with a Zeiss cytopherometer. The study was split into three test series producing in the cancer group 66% correct positive test results (34% false negatives) and in the control group 83% correct negative results (17% false positives). Consequently, with the instrumentation used, EMT is, at least in our hands, not sufficiently reliable for the diagnosis of cancer.

Adenocarcinoma↗
PubMed2005

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed with or suspected of having TSC using a combination of denaturing gradient gel electrophoresis, single-strand conformational polymorphism, direct sequencing, fluorescent in situ hybridisation and Southern blotting. We identified pathogenic mutations in 362 patients, a mutation detection rate of 74%. Of these 362 patients, 276 had a definite clinical diagnosis of TSC and in these patients 235 mutations were identified, a mutation detection rate of 85%. The ratio of TSC2:TSC1 mutations was 3.4:1. In our cohort, both TSC1 mutations and mutations in familial TSC2 cases were associated with phenotypes less severe than de novo TSC2 mutations. Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2 mutation.

Adolescent↗
PubMed1999

Potential impact of a change in the diagnostic criteria for diabetes mellitus on the prevalence of abnormal glucose tolerance in a local community at risk of diabetes: impact of new diagnostic criteria for diabetes mellitus.

AIMS: To compare the prevalence of diabetes and abnormal glucose metabolism using conventional and suggested new WHO and new ADA criteria in a group of people with symptoms of diabetes. METHODS: We examined retrospectively the results of 154 consecutive OGTTs in such patients performed using capillary whole blood. RESULTS: With the 1985 WHO criteria. Forty-four point eight per cent of subjects (69 subjects, with 95% confidence intervals, 37-52.6%) had diabetes, 47.8% (33 subjects, 36-59.6%) had a normal fasting glucose, 31.2% (48 subjects, 23.9-38.5%) had impaired glucose tolerance (IGT) and 76% (117 subjects, 69.3-82.7%) had abnormal glucose tolerance. Applying the ADA criteria (fasting capillary whole blood only), 33.1% (51 subjects, 25.7-40.5%) had diabetes (a 26% relative reduction) and 11% (17 subjects, 6.1-15.9%) IFG, with 44.1% (68 subjects, 36.3-51.9%) having abnormal glucose metabolism (a 42% relative reduction). If the proposed 1998 WHO criteria were used, the number with diabetes increase to 48% (74 subjects, 40.1-55.9%) a 7.2% increase on the old criteria. 27.9% (43 subjects, 20.8-35%) had IGT, so the number with some degree of abnormal glucose metabolism remains unchanged. Use of the ADA criteria, considering only the fasting glucose as suggested, will result in a significant reduction in the diagnosis of diabetes and those with abnormal glucose metabolism.

Administration, Oral↗