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At least 433 records · Page 24Linked to original sources
PubMed2002

Hypertension detection and control: population and policy implications.

The decline in cardiovascular diseases is by far the most remarkable achievement of medicine in the last half of the twentieth century. It can even be said that the treatment of hypertension is the only known medical intervention to have left a clear imprint on mortality trends. Much more remains to be accomplished, however, before even the majority of patients in the United States will be controlled with pharmacologic therapy [27,28]. Significant changes are needed to improve the practice of institutions, the adherence of physicians to appropriate guidelines, and the consistency of pill taking on the part of patients. Global risk evaluation is currently being used more widely in clinical practice to target therapy and improve its overall effectiveness; however, it is perhaps too early to assess its practical value. On theoretic grounds alone, much more needs to be done to refine prediction of cardiovascular risk as a clinical tool. Improvement in information technology, including an electronic medical record and on-line risk equations, will also be required before its full value can be realized.

Female↗
PubMed1987

The frequency of chromosome aberrations in a control population.

Chromosome aberration frequencies in a group of new entrants and non-radiation workers from this establishment have been studied using both block-staining and G-banding techniques. Increased levels of chromosome exchanges were found in those with a previous history of occupational or medical exposure to potential clastogens and in smokers. The possibility of an age effect was suggested. The study emphasizes the problems encountered in obtaining suitable control levels for comparison with occupational studies of exposure to clastogens.

Adult↗
PubMed1987

Lipoprotein analyses in varying degrees of glucose tolerance. Comparison between non-insulin-dependent diabetic, impaired glucose tolerant, and control populations.

Atherosclerosis is the major cause of death in diabetic patients. Lipoproteins and lipids are frequently altered in non-insulin-dependent diabetes. These lipoprotein alterations are of interest because of their possible role in the origin of the accelerated atherosclerosis found in diabetes. Because of the link between lipoproteins and diabetes, serum lipids and lipoproteins were measured in 215 middle-aged patients (107 female, 108 male) with varying degrees of glucose tolerance: control subjects, subjects with impaired glucose tolerance (IGT), and patients with non-insulin-dependent diabetes mellitus (NIDDM). In male subjects, levels of fasting total triglycerides were significantly greater in those with NIDDM compared with control subjects. In female subjects, fasting total cholesterol levels were significantly greater in NIDDM compared with IGT. Both high-density lipoprotein (HDL) cholesterol and HDL2 cholesterol values were significantly lower in both sexes with NIDDM compared with control subjects. Low-density lipoprotein (LDL) cholesterol levels were elevated in the male subjects with IGT. No differences in HDL cholesterol or its subfractions were seen in both sexes with IGT compared with control subjects. Bivariate analyses showed that the reduced HDL cholesterol and HDL subfraction levels were most closely associated with both total triglycerides and weight. This study shows that reduced HDL cholesterol and HDL2 cholesterol levels occur in NIDDM, whereas persons with "impaired glucose tolerance" do not have the dramatic alterations in HDL levels.

Arteriosclerosis↗
PubMed2002

Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population.

This study addressed two questions: is there an effect of dietary interventions that induce relatively small changes in phenylalanine (Phe) concentration on neuropsychological outcome of early- and continuously treated phenylketonuria (PKU) patients, and are there differences in effects for PKU children and adolescents? To answer the first question, the effect of a short-term dietary intervention (1-2 weeks) was compared for patients whose Phe concentrations increased vs those whose Phe concentrations decreased. Controls were tested twice to control for learning effects. To answer the second question, the effect of dietary interventions was examined in younger patients (aged 7-10 years) and older patients (aged 11-14 years). The effect of dietary interventions was determined with three neuropsychological tasks: one requiring sustained attention; a second demanding maintenance in working memory; and a third in which complex operations were performed in working memory. Relatively small fluctuations in Phe concentration were found to influence neuropsychological task performance of PKU patients. Patients whose Phe concentrations decreased at the second assessment showed generally more improvement than controls. Patients whose Phe concentrations had increased showed minimal improvement or deterioration of task performance. The strongest effects were observed when sustained attention and manipulation of working memory content were required. There were some indications of a greater sensitivity of younger patients to fluctuations in Phe concentration.

Adolescent↗
PubMed1994

The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.

The increase in orotidine excretion following a 300 mg allopurinol dose has been used for carrier detection in ornithine carbamoyl transferase (OCT) deficiency. This test was evaluated, using three collection periods, in 23 healthy women, 4 obligate heterozygotes and 32 other women at risk of being carriers of OCT deficiency. Four methods for the analysis of orotidine and orotic acid were compared. Using the most reproducible method, the excretion of orotic acid in controls was found to be consistently higher than that of orotidine in all three periods. The distribution of both orotic acid and orotidine excretion of controls was skewed so that standard deviations (S.D.) were calculated after logarithmic transformation. All four obligate heterozygotes showed orotic acid and orotidine excretion in excess of 3 S.D. above the control mean and a further 7 women had one or more excretion values in excess of 3 S.D., while 16 gave a value of less than 2 S.D. for both metabolites. We conclude that the predictive value of the test is good, that both orotic acid and orotidine should be measured to reduce the risk of misclassification and that values greater than 2 S.D. for both in one or more periods should be used as the cut-off point to identify carriers.

Adolescent↗
PubMed1999

Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.

We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which changed the arginine residue at position 142 to a stop codon, and the third mutation, also in exon 5, was a triple base substitution from nucleotide position 417 to 419. This mutation encompassed two codons but only changed the amino acid predicted from the second codon, resulting in the replacement of valine with glutamine at position 134. This missense mutation has been described previously by Meguro et al. 1994, on one allele in a compound heterozygote with hepatoerythropoietic porphyria. This is the third case of an hepatoerythropoietic porphyria mutation in an individual diagnosed with familial porphyria cutanea tarda.

Humans↗
PubMed2003

Risk of colorectal adenoma in liver transplant recipients compared to immunocompetent control population undergoing routine screening colonoscopy.

BACKGROUND: Immunosuppression following solid organ transplantation has been associated with a higher prevalence of cancers including colon cancer. However, the risk of colorectal adenoma following liver transplantation is unknown. The objective of this pilot study is to determine whether the prevalence of colorectal adenoma is increased in liver transplant recipients. METHODS: In this retrospective study, 25 patients who had liver transplantation at our institution between 1994 to 1997 and who underwent routine posttransplantation colonoscopy were compared with 50 controls who were undergoing routine screening colonoscopy. Transplant recipients who were younger than 45 years, survived less than 3 years following liver transplant, with history of inflammatory bowel disease, or prior history of colonic adenoma or cancer were excluded from the study. In both groups, colonoscopic diagnosis of polyp was confirmed by pathologic diagnosis of adenoma on biopsy. RESULTS: 25 (12M/13F, mean age 53 +/- 7 years) liver transplant recipients were compared with 50 controls (19M/31F, mean age of 59 +/- 7 years). In transplant recipients, colonoscopy was performed 41 +/- 19 months after liver transplantation. Seven (28%) liver transplant recipients (5M, 2F) and 4 (8%) controls (3F, 1M) were found to have adenomatous polyp (OR 4.5, 95% CI 1-21.2, P = 0.049). Malignant polyps were not detected in both groups. CONCLUSION: Liver transplant recipients appear to have an increased risk for developing colorectal adenoma. Early screening colonoscopy is warranted for this group of patients.

Adenoma↗
PubMed1997

Criteria for early detection of conduction block in multifocal motor neuropathy (MMN): a study based on control populations and follow-up of MMN patients.

Motor conduction block (MCB) has been used as the main diagnostic criterion in multifocal motor neuropathy (MMN). Nonetheless, no agreed definition of block currently exists; the proposed required percent decrement of proximal compound muscle action potential (CMAP) amplitude varies from > 20% to > 50%. The aim of this work was to evaluate, through a follow-up study of patients with MMN, the behaviour of MCB over time. The percent decrement and temporal dispersion of proximal CMAP have also been calculated in normal controls and in patients affected by amyotrophic lateral sclerosis (ALS). The results show that MCB in patients with MMN is a dynamic entity which greatly varies over time and that a > 50% CMAP amplitued reduction may well be preceded by a smaller decrement that is nonetheless indicative of focal myelin damage in the appropriate clinical context. This datum and the results obtained in the control group and in patients with ALS suggest that a reappraisal of the diagnostic criteria for MCB, in cases with clinical and electrophysiological data strongly indicative of MMN, should be considered. Since MMN is a treatable disorder, the use of the proposed less restrictive criteria for the identification of MCB could allow for a promp and more effective treatment.

Adolescent↗
PubMed1988

Distribution of Ha-RAS-1 proto-oncogene alleles in breast cancer patients and in a control population.

The frequencies of 13 different Ha-ras proto-oncogene alleles have been estimated in 92 breast cancer patients and 60 unaffected individuals. The Ha-ras alleles can be identified using a DNA restriction fragment length polymorphism (RFLP) closely linked to the 3' end of the gene, and are characterized by a different length due to a region of sequences repeated a variable number of times (variable tandem repeats, VTR). The statistical analysis of the data obtained shows that the frequency of alleles ranging between specific length limits is significantly higher in breast cancer patients than in controls. The same applies to specific genotypes bearing the aforementioned alleles. This suggests that the inheritance of these alleles may be associated with an increased risk of developing breast cancer.

Adult↗
PubMed2000

Analysis of point mutation in exon 2 of CYP2E1 gene in renal cell/urothelial cancer patients in comparison with control population.

OBJECTIVE: Genetic polymorphisms of human cytochrome P450s have been implicated to be of importance for susceptibility to different cancers. Recently, a point mutation was found in the exon 2 of the CYP2E1 gene (CYP2E1*2) [Hu et al. 1997]. In order to evaluate a possible link between the point mutation in exon 2 of the CYP2E1 gene and the susceptibility to renal cell/urothelial cancer, we developed a screening method based on the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). MATERIAL: DNA of peripheral white blood cells was isolated from 158 renal cell/urothelial cancer patients as well as from 150 controls. METHOD: Primers for PCR were designed by the Primer 3 release 0.1 program. The PCR yield a product of 215 base pairs (bp), which was digested with the restriction enzyme Hha I. The DNA fragments were separated on a 3% agarose gel stained with ethidium bromide. Restriction enzyme digestion of the PCR product obtained from the wild-type DNA resulted in the appearance of a 66 bp, a 43 bp, a 40 bp, a 39 bp and a 28 bp DNA fragment. In contrast to the wild-type, the digestion of the PCR product from DNA carrying the point mutation resulted in the loss of the 39 bp and 40 bp fragments and the appearance of an additional 79 bp fragment. Therefore, the loss of one Hha I restriction site caused by a single nucleotide exchange is suitable for the identification of the point mutation in exon 2 of CYP2E1 gene. RESULTS: However, we could not detect any point mutation in any of the 158 renal cell/urothelial cancer patients or the 150 controls. The distribution of the point mutation in exon 2 of CYP2E1 gene did not show any difference in renal cell/urothelial cancer patients and controls. CONCLUSION: This might indicate a lack of association between this CYP2E polymorphism (CYP2E1*2) and renal cell/urothelial cancer.

Base Sequence↗
PubMed2004

No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population.

ZDHHC8 is a new and attractive candidate for a schizophrenia-susceptibility factor. First, several lines of linkage studies showed that 22q11, on which ZDHHC8 is located, is a "hot" region. Second, fine linkage disequilibrium mapping revealed a significant association around ZDHHC8. Moreover, a very recent study reported that one single nucleotide polymorphism (SNP: rs175174) in ZDHHC8 might affect the splicing process, the ZDHHC8 knock-out mice showed the gender-specific phenotype, and the transmission disequilibrium test (TDT) using this SNP also showed significant association with human female schizophrenia. Thus, we attempted a replication study of this SNP using relatively large Japanese case-control samples (561 schizophrenics and 529 controls). No association was found between schizophrenia and controls even after dividing samples by gender. Because our sample size provided quite high power, ZDHHC8 may not play a major role in Japanese schizophrenia. And our results did not support the gender-specific effect of this SNP.

Acyltransferases↗
PubMedDate not supplied

Analysis of epidermal lipids of the healthy human skin: factors affecting the design of a control population.

The intervariability of studies on the lipids of human epidermis and stratum corneum is high because of the different origin of the skin samples and the variety of extraction methods used. In the present work, a high-performance thin-layer chromatographic technique has been used to study the parameters age, sex, and anatomical site for their effects on the lipid profiles recovered from healthy epidermal skin biopsy specimens. It was found that sex-related differences were seen at the level of the total ceramide concentration. Observed decreases in lipid concentration, due to ageing, depended on the anatomical site. Therefore, these variables should be controlled in a reproducible and standardized way in order to be able to study the direct relationship between skin condition and barrier lipid composition. Only when this relation is established, results of topical treatment can be scientifically evaluated.

Adult↗
PubMed2000

Fibromyalgia is associated with panic disorder and functional dyspepsia with mood disorders. A study of women with random sample population controls.

BACKGROUND: We compared ICD-10 psychiatric disorders in female patients with fibromyalgia (n=45) or functional dyspepsia (n=18) with age-matched random sample controls (n=49). METHOD: Version 2 of The Schedules for Clinical Assessment in Neuropsychiatry (SCAN) was used for present state examination and lifetime diagnoses. RESULTS: Current psychiatric disorders (somatoform pain disorder and specific phobia omitted) were diagnosed in 80% of fibromyalgia patients (OR=8.3), 83% of functional dyspepsia patients (OR=10.3) and 33% controls. Among fibromyalgia patients 27% had lifetime panic disorder. Lifetime mood disorders were found in 83% of functional dyspepsia patients. First-degree relatives with psychiatric disorder were found in 16% of the fibromyalgia patients, 50% of functional dyspepsia patients and 20% of controls. CONCLUSIONS: Fibromyalgia is associated with panic disorder and functional dyspepsia with mood disorders in substantial subgroups. Psychiatric symptoms and somatic complaints are closely related in these disorders.

Adolescent↗
PubMedDate not supplied

Trace element content in fingernails and hair of a nonindustrialized US control population.

The concentrations of 17 elements in the nail and hair of 117 subjects from a nonindustrialized environment were determined by instrumental neutron activation analysis (INAA). A new method of statistical treatment that allows for more meaningful use of detection limit values was used to process the concentration data. Geometric means and standard errors are presented for each element, along with a summary of the effects of age, sex, and treatment on the concentration of each element. For nails, these data represent the first comprehensive study for several important elements. Correlations for each element between hair and nail were determined. With few exceptions, concentrations of nonessential trace elements were positively correlated in hair and nail, whereas concentrations of essential elements showed no correlations. The factors affecting concentrations and control levels must be considered in studying alterations in disease states.

Adolescent↗