Transcriptomic profiling of AGS2, AGS5, AGS6 and COPA patients compared to healthy controls
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE220764 | GEO | 2025/07/01
REPOSITORIES: GEO
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Project description:Transcriptomic profiling of AGS2, AGS5, AGS6 and COPA patients compared to healthy controls
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Project description:Several lines of evidence suggest that neuroplasticity is impaired in depression. This study aimed to compare neuroplasticity in 23 subjects with DSM-IV major depressive episode and 23 age- and gender-matched healthy controls, using an objective test that is independent of subject effort and motivation. Neuroplasticity was assessed in the motor cortex using a brain stimulation paradigm known as paired associative stimulation (PAS), which induces transient changes in motor cortical function. Motor cortical excitability was assessed before and after PAS using single-pulse transcranial magnetic stimulation (TMS) to induce motor evoked potentials (MEPs) in a hand muscle. After PAS, MEP amplitudes significantly increased in healthy controls compared with depressed subjects (P=0.002). The functional significance of motor cortical changes was assessed using a motor learning task-a computerized version of the rotor pursuit task. Healthy controls also performed better on motor learning (P=0.02). BDNF blood levels and genotype were assayed to determine any relationship with motor cortical plasticity. However, PAS results did not correlate with motor learning, nor appear to be related to BDNF measures. The significance of these findings is that it provides one of the first direct demonstrations of reduced neuroplasticity in depressed subjects, using an objective test.
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Project description:ObjectiveSome studies suggest that hypothyroidism is associated with increased oxidative stress. Urinary excretion of 8-oxo-7,8-dihydroguanosine (8-oxoGuo) and 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) represents whole-body RNA and DNA oxidation, respectively. These biomarkers have only been explored sparsely in patients with thyroid disorders.MethodsIn 45 Danish women with newly diagnosed hypothyroidism, we compared 8-oxoGuo and 8-oxodG before or shortly after initiating levothyroxine with the excretion rates at euthyroidism. We also compared the excretion of 8-oxoGuo and 8-oxodG in the patients after restored euthyroidism with 18 healthy control subjects.ResultsCompared with baseline, none of the biomarkers changed significantly in the patients after becoming euthyroid. The geometric mean of 8-oxoGuo was 1.63 (95% CI: 1.49-1.78) nmol/mmol creatinine at baseline and 1.67 nmol/mmol at euthyroidism (95% CI: 1.53-1.83) (P = 0.39), while that of 8-oxodG was 1.28 nmol/mmol creatinine at baseline (95% CI: 1.14-1.44) and 1.32 nmol/mmol at euthyroidism (95% CI: 1.18-1.48), respectively (P = 0.47). The relative mean differences were 0.97 (95% CI: 0.91-1.04) for 8-oxoGuo and 0.97 (95% CI: 0.88-1.06) for 8-oxodG. At baseline, multiple linear regression revealed a positive association between free thyroxine and both biomarkers (8-oxoGuo, P < 0.001; 8-oxodG, P = 0.04). Furthermore, 8-oxoGuo was positively associated with age (P = 0.04) and negatively associated with thyrotropin (P = 0.02). In the control group, the geometric mean of 8-oxoGuo was 1.23 nmol/mmol creatinine (95% CI: 1.07-1.42), while that of 8-oxodG was 1.04 nmol/mmol creatinine (95% CI: 0.88-1.23). Thus, compared with control subjects, euthyroid patients showed a significantly higher level of both 8-oxoGuo (P < 0.001) and 8-oxodG (P = 0.03).ConclusionIn hypothyroid women, no significant effect of levothyroxine treatment on the oxidative stress biomarkers 8-oxoGuo and 8-oxodG could be demonstrated. However, the excretion of these biomarkers was significantly higher than in healthy controls.
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Project description:ObjectiveTo compare the risk, circumstances, consequences and causes of prospectively recorded falls between people with multiple sclerosis (PwMS) and healthy controls of similar age and gender.Methods58 PwMS and 58 healthy controls, who are community-dwelling, were recruited in this 6-month prospective cohort study. 90% of PwMS and 84% of healthy controls completed the study. Participants counted falls prospectively using fall calendars and noted fall location, fall-related injuries, and the cause of the falls. Kaplan Meier survival analysis and log-rank tests were performed to compare the distributions of survival without falling between PwMS and healthy controls.Results40.8% of controls and 71.2% of PwMS fell at least once. 48.1% of PwMS and 18.4% of healthy controls fell at least twice. 42.3% of PwMS and 20.4% of health controls sustained a fall-related injury. After adjusting for age and gender, the time to first fall (HR: 1.87, p = 0.033) and the time to recurrent falls (HR: 2.87, p = 0.0082) were significantly different between PwMS and healthy controls. PwMS reported an almost equal number of falls inside and outside, 86% of the falls in healthy controls were outside. Healthy controls were more likely to fall due to slipping on a slippery surface (39.5% vs 10.4%). PwMS more often attributed falls to distraction (31% vs 7%) and uniquely attributed falls to fatigue or heat.ConclusionsFall risk, circumstances, consequences, and causes are different for PwMS than for healthy people of the same age and gender. PwMS fall more, are more likely to be injured by a fall, and often fall indoors. PwMS, but not healthy controls, frequently fall because they are distracted, fatigued or hot.
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Project description:The objective of this study was to investigate possible differences in uterine artery pulsatility index (UtAPI) between pregnant women with PCOS and healthy controls and to explore possible effects of metformin on UtAPI. Material and Methods. The study was conducted in a tertiary center. Forty-eight pregnant women diagnosed with PCOS before pregnancy and 124 healthy pregnant women were included. Women with PCOS were randomly assigned to metformin 2000 mg daily or a placebo. UtAPI was measured five times during 1st and 2nd trimesters of pregnancy in women with PCOS and four times in healthy controls. Results. There was no difference in UtAPI between PCOS women and healthy controls at any point in time (p = 0.34-0.77). In women with PCOS, randomly assigned to metformin 2000 mg or placebo, UtAPI was unaffected by metformin two hours after intake of the first dose of study medication (p = 0.34). All PCOS women, regardless of randomization, had higher UtAPI two hours after intake of study medication and a meal compared to before a meal (p = 0.02). Conclusions. In the first and second trimesters of pregnancy, there was no difference in UtAPI between women with PCOS and healthy controls. Metformin had no immediate effect on the UtAPI. Interestingly, blood flow decreased after a meal, suggesting that time since last meal should be taken into consideration when interpreting the results of UtAPI measurements in pregnancy. This trial is registered with ClinicalTrials.gov (NCT00466622) Metformin in Pregnant PCOS women (PregMet) (NCT00159536).
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