Upsala journal of medical sciences
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During the past 20 years, since I started as a postdoc, the world of genetics and genomics has changed dramatically. My main research goal throughout my career has been to understand human disease genetics, and I have developed comparative genomics and comparative genetics to generate resources and tools for understanding human disease. ⋯ Through comparative genetics, I have developed the dog as a model for human disease, characterising the genome itself and determining a list of germ-line loci and somatic mutations causing complex diseases and cancer in the dog. Pulling all these findings and resources together opens new doors for understanding genome evolution, the genetics of complex traits and cancer in man and his best friend.
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Background: An antibody panel is needed to definitively differentiate between adenocarcinoma (AC) and squamous cell carcinoma (SCC) in order to meet more stringent requirements for the histologic classification of lung cancers. Staining of desmosomal plaque-related proteins may be useful in the diagnosis of lung SCC. Materials and methods: We compared the usefulness of six conventional (CK5/6, p40, p63, CK7, TTF1, and Napsin A) and three novel (PKP1, KRT15, and DSG3) markers to distinguish between lung SCC and AC in 85 small biopsy specimens (41 ACs and 44 SCCs). ⋯ PKP1 and DSG3 are related to the prognosis. Conclusions: PKP1, KRT15, and DSG3 are highly specific for SCC, but they were more useful to differentiate between SCC and AC when used together and in combination with conventional markers. PKP1 and DSG3 expressions may have prognostic value.
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Background: Prenatal depression is common, with an estimate that up to one in five pregnant women suffers from depressive symptoms. Maternal depression is associated with poor pregnancy outcomes such as preterm birth and low birth-weight. Such outcomes possibly affect offspring development. ⋯ Results: There were no differences in levels of the glucocorticoid receptor or activity between groups (control, depressive symptoms, and SSRI treatment; n = 45). Similarly, there was no difference in placental glucocorticoid receptor levels or activity dependent upon foetal sex. Conclusion: Maternal depression and SSRI treatment do not affect the glucocorticoid receptors in the placenta.
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Background. No study has examined the effect of low serum uric acid (SUA) concentrations on mortality in hypertrophic cardiomyopathy (HCM) patients. The aim of the present study was to assess the relations between both low and high SUA concentrations and the risk of mortality across the full range of SUA concentrations in a retrospective cohort of HCM patients. ⋯ The corresponding HRs in the highest SUA group (≥450 µmol/L) were 2.73 (95% CI 1.42-5.23, p = 0.003) and 4.14 (95% CI 1.70-10.13, p = 0.002), respectively. Conclusions. Both low and high SUA concentrations were significantly associated with increased risk of all-cause mortality and HCM-related mortality, which supported a U-shaped association between SUA concentrations and mortality in HCM patients.
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Background: Mortality is high among elderly patients with traumatic brain injury (TBI). Recent data suggest that early surgical intervention and aggressive rehabilitation may reduce mortality rates even in elderly patients. Our aim was therefore to study the Rapid Emergency Triage and Treatment System-Adult (RETTS-A) triage of patients with isolated TBI and examine the differences in acute management according to age. ⋯ LOS was significantly higher in elderly patients (median 9 days compared with 3 days for younger patients, p < 0.001). Finally, age, triage priority, and AIS score were independent risk factors for mortality. Conclusion: Elderly patients with isolated TBI are managed differently than younger patients, which could be due to an under-triage of elderly patients by RETTS-A.