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A Fraser

Publications and source records attributed to A Fraser.

153 records · Page 9Linked to original sources
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The DNA sequence and comparative analysis of human chromosome 20.

The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

Animals↗
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Meal appeal.

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Aged↗
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Livedo reticularis is a marker for predicting multi-system thrombosis in antiphospholipid syndrome.

OBJECTIVE: Livedo reticularis (LR) is a skin vasculopathy that has been frequently described in patients with anti-phospholipid syndrome (APS) and reported to be present in association with valvular heart pathology and strokes (i.e. Sneddon's syndrome). METHODS: In a cohort of APS patients we investigated the possible association of LR with various clinical aspects of APS such as pregnancy morbidity, central nervous system (CNS) and cardiac manifestations. RESULTS: Livedo reticularis was found in 50/308 (16%) of APS patients, and there was a significant association with cerebrovascular accidents (CVA), migraines and epilepsy (p = 0.01, 0.002, and 0.02 respectively). A similar association was also detected between LR, and the presence of cardiac valve thickening and vegetations (p = 0.001). No association with venous thrombosis, recurrent fetal loss, IUGR or toxemia was found. CONCLUSION: Livedo reticularis is a frequent cutaneous manifestation in patients with APS. Its high association with cardiac and CNS thrombosis may suggest that LR-APS patients compose a subset at higher risk for thrombosis, and thus may require a closer follow-up and a more aggressive anticoagulation.

Adult↗
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Anti-Saccharomyces cerevisiae antibodies in Behçet's disease--a familial study.

OBJECTIVE: To evaluate the rate and clinical correlations of antibodies against saccharomyces cerevisiae (ASCA) among healthy family members of patients with Behçet's disease (BD). METHODS: Twenty-one BD patients and 52 healthy family members (HFM) were studied. Data from medical files and from patients' interviews was collected, regarding the entire spectrum of disease manifestations. Each family member was personally interviewed and a questionnaire composed of BD symptoms and their temporal relation was compiled. IgA- and IgG-ASCA levels, determined by ELISA, were studied in all BD patients and their family members, the results were compared to a group of 23 healthy controls (HC). RESULTS: Eight (38.1%) BD patients were ASCA positive, compared to five among HFM (9.6%) and none among healthy unrelated controls (p=0.001). Mean IgG and IgA-ASCA levels were significantly higher in BD patients compared with HFM and HC groups (p = 0.002 and p = 0.03, respectively). No correlation was found between positive ASCA tests and any of BD-related manifestations. Mean IgG-ASCA levels were significantly lower in HFM compared to BD patients (p = 0.03), yet IgA-ASCA levels were similar in HFM and BD. Mean IgG and IgA-ASCA levels were higher in HFM compared with healthy unrelated controls (p=0.09 and p=0.03). No difference was found in ASCA rates between relatives of BD patients who had positive or negative ASCA tests, or between spouses of BD patients and genetically related relatives. In HFM with recurrent oral ulcers there was a positive correlation between titers of IgA-ASCA and the yearly number of oral ulcers episodes (p = 0.01), and mean ulcers healing time (p = 0.01). IgG-ASCA titers correlated with yearly number of aphtae episodes (p = 0.03). CONCLUSION: The results of this study confirm our previous observation on a high prevalence of ASCA in BD. ASCA levels are also increased in healthy family members of BD patients, and are probably influenced by genetic as well as environmental factors. ASCA in HFM were significantly associated with a more severe oral ulcer disease. The role of ASCA as a marker for predisposition to develop future BD remains to be evaluated.

Adult↗