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PubMed1996

Variant high-origin radial artery: a bilateral case.

During a dissection of both upper extremities, an abnormally high origin of the radial a. was found on each side. However, the arterial patterns were not the same. On the right side, the radial a. arose 2 cm above the junction of the two roots of the median n. On the left side, the radial a. arose from the brachial a. 3 cm distal to the origin of the profunda brachii a. The course of these arteries in the forearm were normal. However, in the hand, on the right side, the contributions of the radial and ulnar aa. to the superficial and deep palmar arches were, unusually, equal. On the left side, the superficial palmar arch was formed as usual mainly by the ulnar a. and the deep palmar arch was formed mainly by the radial a. The high origin of the radial aa. in this case is explained on the basis of the embryologic development and is distinguished from the other common arterial variations in the upper limb.

Abnormalities, Multiple↗
PubMed2005

DSM-IV mood-, anxiety- and alcohol use disorders and their comorbidity in the Finnish general population--results from the Health 2000 Study.

BACKGROUND: Information on prevalence, accumulation and variation of common mental disorders is essential for both etiological research and development of mental health service systems. METHODS: A representative sample (6005) of Finland's general adult (> or = 30 years) population was interviewed in the period 2000-2001 with the CIDI for presence of DSM-IV mental disorders during the last 12 months in the comprehensive, multidisciplinary Health 2000 project. RESULTS: Depressive-, alcohol use- and anxiety disorders were found in 6.5%, 4.5 % and 4.1% of the subjects, respectively. A comorbid disorder was present in 19% of those with any disorder. Males had more alcohol use disorders (7.3 % vs. 1.4 %) and females more depressive disorders (8.3 % vs. 4.6 %). Older age, marriage and employment predicted lower prevalence of mental disorders and their comorbidity. Prevalences of alcohol use- and comorbid disorders were higher in the Helsinki metropolitan area, and depressive disorders in northern Finland. CONCLUSIONS: Mental disorders and their comorbidities are distributed unevenly between sexes and age groups, are particularly associated with marital and employment status, and vary by region. There appears to be no single population subgroup at high risk for all mental disorders, but rather several different subgroups at risk for particular disorders or comorbidity patterns.

Adult↗
PubMed2003

Is cholangiography required for ex situ splitting of cadaveric livers?

Anomalous biliary anatomy is encountered frequently and, if not considered at the time of ex situ splitting of a cadaveric liver into left lateral segment and right lobe grafts, right-sided second-order ducts that enter the left system, or the segment IV duct, may be damaged, leading to biliary complications in the recipients. Bench cholangiography facilitates delineation of these anomalies, but if one considers the commonly encountered variations in biliary anatomy, in relation to the correct plane of division of the left hepatic duct (away from the hilum, close to the umbilical fissure), it is possible to avoid inadvertent injury to right-sided sectoral ducts. This approach, combined with careful probing of the ducts and absolute identification of the segment IV duct negates the contribution of cholangiography.

Bile Ducts, Intrahepatic↗
PubMed1997

Effect of vitamin D receptor genotypes on calcium absorption, duodenal vitamin D receptor concentration, and serum 1,25 dihydroxyvitamin D levels in normal women.

It is well established that bone mineral density is under strong genetic control. Recently it was reported that the Bsm I restriction fragment length polymorphism of the vitamin D receptor (VDR) gene could account for up to 75% of the genetic variance in bone mineral density. However, the physiological basis for such an effect has not been established. The VDR gene codes for the vitamin D receptor protein which regulates intestinal calcium absorption. In order to assess the biochemical basis we studied the effect of common allelic variation of the VDR gene on intestinal VDR protein concentration, calcium absorption, and serum 1,25 dihydroxyvitamin D (1,25(OH)2D). Ninety-two Caucasian women were genotyped for Bsm I and Taq I polymorphism at the VDR gene locus. From these we compared 49 young women aged 25-35 years and 43 elderly women aged 65-83 years, who had all three measurements performed. There were no significant differences in intestinal VDR protein concentration, serum 1, 25(OH)2D, or radioactive calcium absorption among VDR genotype groups. Therefore, the small intestine does not seem to be a target for VDR gene polymorphism.

Absorption↗
PubMed2000

Correlation between acetylation phenotype and genotype in Chinese women.

OBJECTIVE: The acetylation polymorphism is a common inherited variation in human drug and carcinogen metabolism. Because N-acetyltransferase (NAT2) is important for the detoxification and/or bioactivation of drugs and carcinogens, this polymorphism has important implications in therapeutics and cancer susceptibility. A high correlation between acetylation phenotype and genotype has been demonstrated in several studies. However, no such data exist for Chinese females. The aim of the present study was to compare acetylation phenotype with NAT2 genotype in a population of primarily non-smoking Chinese females. METHODS: In the present study, the correlation between N-acetyltransferase activity and NAT2 genotype was evaluated in 103 unrelated Chinese female controls derived from a hospital-based case-control study of lung cancer in Singapore. Acetylation phenotype and genotype were respectively determined using caffeine and an allele-specific polymerase chain reaction (PCR). RESULTS: The proportions of rapid and slow phenotypes were 78% and 22%, respectively, while the distribution of rapid (heterozygotes and homozygotes combined) and slow acetylator genotypes was 76% and 24%, respectively. The distribution of the various NAT2 genotypes did not differ significantly (chi2 = 1.45, P > 0.05) from that predicted by the Hardy-Weinberg Law. All slow acetylators were accurately predicted (100%), whereas 2 of 80 rapid acetylators were erroneously predicted as slow (2.5%). The overall prediction rate of the PCR-based test for the acetylation phenotype was at 98.1% in our Chinese population. CONCLUSION: Our results suggest that genotyping with PCR may well become the preferred method for the determination of acetylation polymorphism in epidemiological studies in this Asian population.

Acetylation↗
PubMed2000

Ultrasound of the spleen.

Ultrasound (US) is a very useful means of noninvasively examining the spleen. Imaging is generally achieved via an intercostal approach using gray scale US supplemented by color flow to assess vasculature. Normal spleen appears uniform with vessels radiating and converging at the hilum. US readily identifies accessory spleens, a common congenital variation. Splenomegaly can be identified by US, however, it is not useful in differentiating the many causes of an enlarged spleen. Focal splenic masses are identified as cystic or solid by US, and features such as calcification, wall thickening, internal debris, and gas may be demonstrated in cystic type masses. Granulomatous calcification may be seen with US and cavernous hemangiomata typically have a characteristic US appearance. US can demonstrate typical features of splenic infarction. Splenic injury can be detected with US, however, whether US is the most appropriate first line investigation for suspected splenic injury is yet to be determined. It is a very useful follow-up modality for monitoring splenic injuries detected by either US or computed tomography which are treated conservatively.

Cysts↗
PubMed1998

Comparative study of the genomic organization of DNA repeats within the 5'-flanking region of the natural resistance-associated macrophage protein gene (NRAMP1) between humans and great apes.

The human NRAMP1 gene located on Chromosome (Chr) region 2q35 is a candidate gene for increased risk of infection by several intracellular macrophage parasites, including M. tuberculosis and M. leprae. In search for a possible mutational hot spot, we have analyzed a 3.5-kb region 5' to NRAMP1 that is highly enriched for DNA repeat sequences. The repeat sequences could be grouped into one Mer element and six Alu elements, representing five Alu subfamilies, that had integrated in the same DNA region during successive rounds of Alu retropositional activity. Comparative sequence analysis of the Alu cluster region in humans, chimpanzee (Pan paniscus), and gorilla (Gorilla gorilla) revealed only modest sequence variability and failed to detect any evidence for genomic instability of the highly repetitive DNA region. These results show that sequence length variants in the Alu-flanking regions as well as nucleotide substitutions are the most common genomic variations even in a region of extreme Alu-clustering. Moreover, the high degree of sequence conservation among three primate species argues against the Alu cluster being the site of frequent genomic rearrangements or other frequent genetic events that might influence NRAMP1 expression.

Animals↗
PubMed2026

Polygenic risk score for neurodevelopmental disorders and cognitive impairment at long-term follow-up of first-episode psychosis.

BACKGROUND: One of the most outstanding contributions to the understanding of the etiopathogenesis of schizophrenia spectrum disorders (SSD) was the neurodevelopmental hypothesis. SSD and neurodevelopmental disorders (NDD) share pathogenetic mechanisms and overlapping clinical and cognitive impairment features. METHODS: We investigated whether polygenic risk scores (PRSs) for NDD are associated with cognitive performance in patients with first-episode psychosis (FEP). The sample comprised 127 patients with FEP who were followed up for a mean of 20.9 years. Cognitive examination was performed using the MoCA test at follow-up. Pearson coefficient correlations and multiple regression analyses were performed to examine the contribution of the three PRSs for rare neurodevelopmental conditions (PRSNDD), attention-deficit hyperactivity disorder (PRSADHD) and autism spectrum disorder (PRSASD) to cognitive impairment after allowing for the effect of covariates. Furthermore, we examined the interconnections between the PRS for NDD and cognitive impairment using network analysis (NA), including core premorbid variables. RESULTS: PRSNDD showed significant associations with impairment on visuospatial/executive, attention, and language MoCA subtests, after allowing for the influence of covariates. PRSNDD and PRSADHD, but not PRSASD, were significantly associated with worse performance on the total MoCA score. Moreover, in the network analysis, the relationships between PRSs for NDD and cognitive impairment were highly interconnected with premorbid variables and PRSs for schizophrenia and educational attainment. CONCLUSIONS: These results provide evidence for a possible direct genetic effect on cognitive performance for the PRS of common genetic variations related to neurodevelopment and attention deficit hyperactivity disorder in patients with FEP.

Cognitive impairment↗
PubMed2006

ICAM gene cluster SNPs and prostate cancer risk in African Americans.

Intercellular adhesion molecules (ICAMs) are known to be involved in various human cancers. An ICAM gene cluster lying within a 26 kb region on chromosome 19p13.2, and containing ICAM1, ICAM4, and ICAM5 has recently been identified as harboring a breast and prostate cancer susceptibility locus in two populations of European ancestry from Germany and Australia. The objective of this study was to confirm the ICAM association with prostate cancer in a sample of African American prostate cancer cases (N = 286) and controls (N = 391). Six single nucleotide polymorphisms (SNPs) within the three ICAM genes were genotyped. To control for potential population stratification an ancestry-adjusted association analysis was performed. We found that ICAM1 SNPs, -9A/C (rs5490) and K469E (rs5498) were associated with prostate cancer risk in men with a family history of prostate cancer (P = 0.008). Specifically, increased risk was observed for individuals who possessed the CC genotype of the -9 A/C variant (odds ratio = 2.5; 95% CI = 1.0-6.3) and at least one G allele of non-synonymous K469E variant (odds ratio = 1.8; 95% CI = 1.2-3.1). Strong linkage disequilibrium was observed across the ICAM region (P < 0.001). A common haplotype within the ICAM gene cluster, harboring the -9A/C variant was significantly associated with prostate cancer (P = 0.03), mainly due to men with family history (P = 0.01). Our results replicate previous findings of association of the ICAM gene cluster with prostate cancer and suggest that common genetic variation within ICAM1 and not ICAM5 may be an important risk factor for prostate cancer.

Black or African American↗
PubMed2006

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects.

Inflammatory markers have consistently been associated with vascular disease. Evidence of genetic polymorphisms in inflammatory loci that predict severe carotid artery disease (CAAD) would suggest that this relationship is not secondary to other correlated factors, but related to inflammation itself. We examined the full common genetic variation in 42 inflammatory loci for prediction of severe CAAD versus ultrasound proven controls using a tagSNP approach. For selected loci, monocyte RNA levels were contrasted in subjects with and without CAAD. We confirm the association of IL6(-174), FGB (-455), and ALOX5 with CAAD and show that multiple ALOX5 SNPs independently predict CAAD. We provide evidence for previously unreported associations of SNPs in IL4R, NFKBIA, and PLG with CAAD, and weaker evidence for associations with CSF3, IL10RA, and VCAM1. The NFKBIA and IL10RA expression levels significantly differed between subjects with CAAD and controls. These results support a role for genetic variation related to inflammation in CAAD and a causal role for specific gene products.

Aged↗
PubMed1996

OB gene not linked to human obesity in Mexican American affected sib pairs from Starr County, Texas.

Obesity is a highly prevalent disease, which is associated with a number of chronic conditions and, as such, represents a major public health burden. Numerous studies indicate that there is a genetic component contributing to interindividual variability in obesity. The discovery of the ob gene in mice, mutations in which produce extreme obesity and non-insulin-dependent diabetes mellitus (NIDDM), provides a prime candidate gene for human obesity. We investigated linkage between the human OB gene and obesity in a sample of Mexican Americans from Starr County, Texas. Markers D7S635 and D7S1875, estimated to lie within a region approximately 290 to 400 kb proximal to the OB gene, were used to genotype 177 obese individuals distributed in 64 sibships. Obesity was defined as a body mass index (BMI) above 30 kg/m2. Linkage analyses for affected sibling pairs provided no evidence for linkage in this sample. In addition, differences between siblings for weight, BMI, systolic and diastolic blood pressure, percent body fat, waist-to-hip ratio, and blood lipid measures were not significantly related to number of alleles shared identical by state (IBS) for either of the two markers. While the OB gene may be involved in the metabolic sequences leading to obesity, the present linkage results do not support the existence of common genetic variation at or near the OB locus that increases risk for human obesity.

Adult↗
PubMed2006

Complete sequence data support lack of balancing selection on PRNP in a natural Chinese population.

The M129V mutation in the human prion protein gene (PRNP) is the primary site linked to susceptibility to prion diseases in humans. The heterozygous state of this allele has been proven to be more resistant to prion-related diseases such as Creutzfeldt-Jakob disease. Based on a study of the common genetic variations, it has been proposed that balancing selection has played a critical role in shaping the distribution of 129V in worldwide populations. Kreitman and Di-Rienzo [Kreitman and Di-Rienzo (2004)Trend Genet 20:300-304] challenged this hypothesis by pointing out that the exclusion of polymorphisms with low frequency may introduce an ascertainment bias and, in turn, lead to a wrong conclusion. By studying sequence variations in samples from the Human Genome Diversity Project, Soldevila et al. [Soldevila et al. (2005) Trends Genet 21:389-391] showed that this ascertainment bias does exist. We argue that the evidence presented by Soldevila et al. may be compromised by the samples tested since they were selected from a population that may be substructured. In this study, we re-evaluated the hypothesis of balancing selection in a natural Chinese population using a much longer segment encompassing the entire genomic region of the PRNP gene (15 kb). We showed that the pattern of genetic variation in PRNP is not consistent with the presence of balancing selection in this gene.

Asian People↗
PubMed2006

Distribution of common CARD15 variants in patients with sporadic Crohn's disease: cases from Turkey.

Three common genetic variations, namely, R702W, G908R, and 1007fs, on CARD15 have been shown to increase the risk for Crohn's disease (CD) in Caucasian populations. In this study the frequencies of these CARD15 variants were determined by genotyping in 56 patients with CD and 100 healthy ethnically matched controls from Turkey. Overall frequency of all three variants was 10.7% in CD patients, compared with 1.5% in controls (odds ratio [OR]: 7.9). Among them, the frequency of the G908R variant allele was 8% in CD cases, compared with 0% in controls (OR: 36.8). The allele frequencies of three CD-related CARD15 variants were considerably lower in the control group compared to the reported Caucasian populations. Among the described CARD15 variants, G908R confers an increased susceptibility to CD, whereas the more frequently reported associations in Europeans with R702W and 1007fs are not confirmed in this Turkish population.

Adolescent↗
PubMed2006

Lifeworld-led healthcare: revisiting a humanising philosophy that integrates emerging trends.

In this paper, we describe the value and philosophy of lifeworld-led care. Our purpose is to give a philosophically coherent foundation for lifeworld-led care and its core value as a humanising force that moderates technological progress. We begin by indicating the timeliness of these concerns within the current context of citizen-oriented, participative approaches to healthcare. We believe that this context is in need of a deepening philosophy if it is not to succumb to the discourses of mere consumerism. We thus revisit the potential of Husserl's notion of the lifeworld and how lifeworld-led care could provide important ideas and values that are central to the humanisation of healthcare practice. This framework provides a synthesis of the main arguments of the paper and is finally expressed in a model of lifeworld-led care that includes its core value, core perspectives, relevant indicative methodologies and main benefits. The model is offered as a potentially broad-based approach for integrating many existing practices and trends. In the spirit of Husserl's interest in both commonality and variation, we highlight the central, less contestable foundations of lifeworld-led care, without constraining the possible varieties of confluent practices.

Attitude to Health↗
PubMed1986

Structure identification of the complex-type, asparagine-linked sugar chains of beta-D-galactosyl-transferase purified from human milk.

The asparagine-linked sugar chains of human milk galactosyltransferase were quantitatively released as oligosaccharides from the polypeptide backbone by hydrazinolysis. They were converted into radioactive oligosaccharides by sodium borotritiate reduction after N-acetylation, and fractionated by paper electrophoresis and by Bio-Gel P-4 column chromatography after sialidase treatment. Structural studies of each oligosaccharides by sequential exoglycosidase digestion and methylation analysis indicated that the galactosyltransferase contains bi, tri-, and probably tetra-antennary, complex-type oligosaccharides having alpha-D-Manp-(1----3)-[alpha-D-Manp-(1----6)]-beta-D-Manp -(1----4)-beta-D- GlcpNac-(1----4)-alpha-L-[Fucp-(1----6)]-D-GlcNAc as their common core. Variation is produced by the different locations and numbers of the five different outer chains: beta-D-Galp-(1----4)-D-GlcNAc, alpha-L-Fucp-(1----3)-[beta-D-Galp-(1----4)]-D-GlcNAc, alpha-NeuAc-(2----6)-beta-D-Galp-(1----4)-D-GlcNAc, alpha-L-Fucp-(1----3)-[beta-D-Galp-(1----4)]-beta-D-GlcpNAc-(1---- 3)-beta- D-Galp-(1----4)-[alpha-L-Fucp-(1----3)]-D-GlcNAc, and alpha-NeuAc-(2----6)-beta-D-Galp-(1----4)-beta-D-GlcpNAc-(1----3)-beta-D - Galp-(1----4)-[alpha-L-Fucp-(1----3)]-beta-D-GlcNAc.

Asparagine↗
PubMed1996

The genetics of pigmentation: from fancy genes to complex traits.

Genes that control mammalian pigmentation interact with each other in intricate networks that have been studied for decades using mouse coat color mutations. Molecular isolation of the affected genes and the ability to study their effects in a defined genetic background have led to surprising new insights into the potential interaction between tyrosine kinase and G-protein-coupled signaling pathways. Recent developments show that homologous genes in humans are responsible not only for rare diseases, such as albinism and piebaldism, but also for common phenotypic variations, such as red hair and fair skin.

Animals↗
PubMed1984

Antigenic polymorphism of the T4 differentiation antigen expressed on human T helper/inducer lymphocytes.

The human TH lymphocyte population has been established to express a differentiation antigen (T4) which appears to function in cellular collaboration and T cell recognition of Class II MHC alloantigens. Because we observed altered immunofluorescence staining of the TH cells of some individuals using the OKT4 mAb, a systematic investigation on both the epitopic structure of the T4 glycoprotein molecule and possible polymorphism of these epitopes was undertaken. From competitive blocking assays using eight murine anti-T4 mAbs coupled with quantitative flow cytometry, at least five and possibly seven different epitopes can be recognized on the T4 molecule. Population studies showed some individuals had a reduced phenotypic expression of the OKT4 reactive determinant to one-half that of normal and others completely lacked this epitope. The OKT4 reactive epitope variations are common but have so far been racially restricted to American Blacks and do not appear related to the stage of TH cell differentiation, any identifiable immune abnormality in vitro, or a definable disease process. The OKT4 epitope cannot be unmasked by neuraminidase treatment or T cell stimulation with lectins, soluble antigens, or allogeneic lymphocytes. Coupled with a family study, the alterations in OKT4 phenotype are best explained by autosomal, codominant expression of the T4 gene product. The significance of this polymorphism on TH cell function remains unclear.

Antibodies, Monoclonal↗