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Biomedical subjects

Sue Jones

Publications and source records attributed to Sue Jones.

8 recordsLinked to original sources
PubMed2005

Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease.

We performed an affected sib-pair (ASP) linkage analysis to test for the effects of age at onset (AAO), rate of decline (ROD), and Apolipoprotein E (APOE) genotype on linkage to late-onset Alzheimer's disease (AD) in a sample comprising 428 sib-pairs. We observed linkage of mean AAO to chromosome 21 in the whole sample (max LOD = 2.57). This came entirely from the NIMH sample (max LOD = 3.62), and was strongest in pairs with high mean AAO (>80). A similar effect was observed on chromosome 2q in the NIMH sample (max LOD = 2.73); this region was not typed in the IADC/UK sample. Suggestive evidence was observed in the combined sample of linkage of AAO difference to chromosome 19q (max LOD = 2.33) in the vicinity of APOE and 12p (max LOD = 2.22), with linkage strongest in sib-pairs with similar AAO. Mean ROD showed suggestive evidence of linkage to chromosome 9q in the whole sample (max LOD = 2.29), with the effect strongest in the NIMH sample (max LOD = 3.58), and in pairs with high mean ROD. Additional suggestive evidence was also observed in the NIMH sample with AAO difference on chromosome 6p (max LOD = 2.44) and 15p (max LOD = 1.87), with linkage strongest in pairs with similar AAO, and in the UK sample with mean ROD on chromosome 1p (max LOD = 2.73, linkage strongest in pairs with high mean ROD). We also observed suggestive evidence of increased identical by descent (IBD) in APOE epsilon4 homozygotes on chromosome 1 (max LOD = 3.08) and chromosome 9 (max LOD = 3.34). The previously reported genome-wide linkage of AD to chromosome 10 was not influenced by any of the covariates studied.

Age of Onset↗
PubMed2004

In proven deep vein thrombosis, a low positive D-Dimer score is a strong negative predictor for associated malignancy.

D-Dimer measurements are being increasingly used for negative prediction of deep vein thrombosis (DVT). At our institution, clinical score, D-Dimer assay, plethysmography and, if necessary, Doppler ultrasound are used to secure the diagnosis. We collected the data from 100 consecutive patients proven to have DVT. We examined their medical case notes at diagnosis for concurrent clinical conditions and one year later to look for documented evidence of malignancy. Twenty-two of the 66 patients with D-Dimers greater than 1000 ng/ml were diagnosed with a cancer compared with only 2 of the 34 patients with a presenting D-Dimer score of less than 1000 ng/ml. We propose that a D-Dimer score of less than 1000 ng/ml in proven DVT is a strong negative predictor for malignancy (p = 0.0025).

Aged↗
PubMed2003

Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness.

Variations in exon 42 of the HOPA (human opposite paired) gene have been associated with mental retardation, hypothyroidism and psychiatric disorders. We attempted to replicate the association with schizophrenia using 309 parent-offspring trios from Bulgaria and 367 unrelated cases and 368 blood donors from the UK. We also tested 125 bipolar trios from Bulgaria, 112 bipolar trios from the UK and a sample of 178 unrelated bipolar cases and 188 blood donors from the UK. The frequency of HOPA(12bp) in the 556 UK blood donors was 2.6% and it was not significantly different in the UK patients groups, where it ranged from 1.2 to 3.8%. Sixteen mothers transmitted the HOPA(12bp) allele to schizophrenic offspring, while 12 did not transmit, a non-significant difference. There was a trend for under-transmission of the rare allele to bipolar patients (T/NT = 4/10) and they had a lower rate of that allele than schizophrenic patients in the Bulgarian population (1% vs. 4.2%, P = 0.043). However the two diagnostic groups had similar allele frequencies in the UK populations: 2% versus 2.6%, P = 0.6. We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia.

Alleles↗
PubMed2001

In situ hybridization and immunolabelling study of the early replication of simian immunodeficiency virus (SIVmacJ5) in vivo.

The distribution of virus-infected cells in cynomolgus macaques was determined at 4, 7, 14 and 28 days following intravenous challenge with 1000 TCID(50) of the wild-type simian immunodeficiency virus SIVmacJ5 (stock J5C). At each time-point, pairs of macaques were killed humanely and the presence of SIV was determined and quantified in blood, spleen, peripheral and mesenteric lymph nodes, thymus, lung and ileum by virus co-cultivation with C8166 cells, by quantitative DNA PCR or by in situ hybridization (ISH). At day 4 post-infection (p.i.), detection of the virus was sporadic. By day 7 p.i., however, significant SIV loads were detected in the blood and lymphoid tissues by DNA PCR and virus co-cultivation. Large numbers of cells expressing SIV RNA were detected in mesenteric lymph nodes by ISH and significantly fewer (P<0.05) in the spleen. Significant numbers of ISH-positive cells were also observed in sections of ileum. By day 14 p.i., the distribution of SIV was more even in all lymphoid tissues analysed. By day 28, most of the tissues were negative by ISH, but all remained positive by virus isolation and DNA PCR. Immunolabelling of sections of mesenteric lymph node with monoclonal antibodies specific for SIV envelope and Nef largely confirmed the observations from ISH. These results indicate that, even following intravenous challenge, a major site of the initial replication of SIV is gut-associated lymphoid tissue. Vaccines that induce protection at this site may therefore be superior, even against parenteral challenge.

Animals↗
PubMed2000

Natural resolution of rectus abdominis diastasis. Two single case studies.

An increase in inter-recti distance (IRD) is common in the peripartum period, but is not well documented. This study evaluated the IRD from 36 weeks of gestation to 12 weeks postpartum using two single case studies. Measurements were taken with the rectus abdominis at rest and during contraction at three levels along the linea alba, using a pair of dial calipers. The maximum divarication in the antenatal period was 58mm (resting) and 55mm (active) at the level of the umbilicus. An increase of 200 to 400% was demonstrated at 12 weeks postpartum vis-à-vis the 36th week of gestation. In conclusion, despite individual variability, IRD persists in the postpartum period. Further study is required to establish generalisation.

Journal Article↗
PubMed1997

Intra-rater reliability of rectus abdominis diastasis measurement using dial calipers.

To date, physiotherapists have relied upon the use of finger widths for measurement of rectus abdominis diastasis (RAD). This method has been proven unreliable, due to variations in finger widths. The intra-rater reliability of dial calipers for measurement of RAD was investigated by this study, using a repeated measures design. Measurements were taken at rest and during contraction on three occasions in 30 postpartum subjects. High reliability was demonstrated for resting and active RAD measurements, (ICC=0.93 and 0.95 respectively). In conclusion, dial calipers are a reliable measuring device when used by a single clinician. Further testing is required to determine inter-rater reliability.

Journal Article↗