Toddedwards6119

In an unbiased genome-wide screen for copy number variants (CNVs) on a cohort of Parkinson's disease (PD) patients, we identified in one patient a complex chromosomal rearrangement involving the nucleotide binding protein-like (NUBPL) gene on chromosome 14q12. We noted that mutations in the NUBPL gene had been reported as causing autosomal recessive (AR) mitochondrial Complex I (CI) deficiency in children. The precise breakpoints of the rearrangement in our PD case were found to be identical to those described in a patient with AR CI deficiency who also harbored a second pathogenic mutation in NUBPL. Mitochondrial dysfunction has long been considered a strong contributor to PD, and there is substantial evidence that decreased CI activity plays a central role in PD pathogenesis. We hypothesize that pathogenic NUBPL variants may increase the risk for PD analogous to variants in the glucosylceramidase beta (GBA) gene that increase the risk of developing PD in heterozygous carriers.Background Ischemic stroke has a poor prognosis and brings a ponderous burden on families and society. Hemorrhagic transformation (HT) after intravenous thrombolysis can increase the mortality of patients with ischemic stroke. Thus, finding new HT biomarkers to be applicable in clinical practice is of great importance. Methods The related risk factors were recruited for analysis, including smoking, drinking, hyperlipidemia, diabetes, anamnesis, and pathological indicators. Moreover, the relationship between serum levels of caveolin-1, caveolin-2, and HT after rt-PA treatment were also studied. Results We studied 306 patients with acute ischemic stroke treated with recombinant tissue type plasminogen activator (rt-PA) within 4.5 h of symptom onset. The results showed that Age ≥68 years, smoking, Atrial fibrillation, NIHSS score before thrombolysis ≥17, and systolic pressure 2 h after thrombolysis (mmHg) ≥149 increased the risks of HT after rt-PA administration. Remarkably, the concentration of caveolin-1 (ng/mL) ≤ 0.12 and caveolin-2 (ng/mL) ≤ 0.43 in serum increased the risks of HT after rt-PA administration. Conclusion Knowledge on the risk factors associated with HT after rt-PA treatment may help develop treatment strategies and reduce the risk of HT. Caveolin-1 and caveolin-2 can be predictors of HT after rt-PA administration. These findings provide evidence for future further investigations aimed to validate these biomarkers.Background The article is devoted to one of the most common neurodegenerative diseases in the world-Parkinson's disease (PD), the prevalence of which in Russia reaches 140-150 people per 100,000 people. The clinical and anamnestic profile of a patient with PD is presented, the prevalence of motor and non-motor symptoms is reflected, and a comparative characteristic of the neurological deficit in the Siberian population of patients with other cohorts of patients with Parkinson's disease in different countries and ethnic groups is presented. Methods We studied 140 patients with Parkinson's disease. A comprehensive assessment of neurological status was performed using the "Unified Parkinson's Disease Rating Scale (UPDRS)." In addition, we used the Beck Depression and MoCA scale test. Assessment of the presence and severity of olfactory dysfunction was performed using the Sniffin Stick odor identification test. The stage of PD was evaluated according to the classification of M. M. Hoehn and M. D. Yahr. Results The cohort of the study was dominated by overweight patients with a higher level of education, with concomitant arterial hypertension, coronary heart disease, and dyslipidemia. The severity of motor and most non-motor symptoms directly correlates with the duration of PD and the stage of the disease. The predominant form of the disease was a mixed form, which was also noted in research cohorts in Canada and the UK. The Siberian cohort tends to be more prevalent in hyposmia, daytime sleepiness, orthostatic hypotension, and depressive and REM disorders. compound library chemical Conclusion Our data show the importance of a comprehensive assessment of both motor and non-motor neurological deficits as well as the analysis of comorbid disorders and risk factors for the occurrence and progression of Parkinson's disease. They also show the prevalence of certain motor and non-motor symptoms in the Siberian cohort of patients with Parkinson's disease.Over the past 60 years, the impact of psychotropic drugs on dream recall and content has been scarcely explored. A review of the few existing experimental results on the topic leads us to the following conclusions. For antidepressant drugs, in the great majority, they reduce dream recall frequency (DRF), and the improvement of depressive symptoms is associated with an increase of positive emotion in dream content. For sedative psychotropic drugs, their improvement of sleep quality is associated with a reduction of DRF, but the effect on dream content is less clear. Few occurrences of nightmare frequency increase have been reported, with intake of molecules disturbing sleep or with the withdrawal of some psychotropic drugs. Importantly, the impact of psychotropic drugs on rapid eye movement (REM) sleep does not explain DRF modulations. The reduction of intra-sleep awakenings seems to be the parameter explaining best the modulation of DRF by psychotropic drugs. Indeed, molecules that improve sleep continuity by reducing intra-sleep awakenings also reduce the frequency of dream recall, which is coherent with the "arousal-retrieval model" stating that nighttime awakenings enable dreams to be encoded into long-term memory and therefore facilitate dream recall. DRF is nonetheless influenced by several other factors (e.g., interest in dreams, the method of awakening, and personality traits), which may explain a large part of the variability of results observed and cited in this article.Depression is a disabling illness which increases the risk of suicide. The Corona Virus Disease 2019 (COVID-19) pandemic has led to a rise in fear, anxiety, stress, and depression among the population of these, university undergraduates from countries severely affected by COVID-19 are some of the most vulnerable of all, as they face strict lockdown measures and have fewer resources to cope with it. The aim of this study was to analyze the levels of fear of COVID-19, stress, anxiety, and depression during lockdown among undergraduates from Ecuador, and to test these possible predictors of depression using a model taken from our study of the scientific literature. A total of 640 undergraduates (72% women) between 18 and 47 years old (M = 21.69; S.D = 4.093) were surveyed. The resulting mean levels found for stress, anxiety, and depression were above levels considered non-pathological. Women showed higher levels of fear of COVID-19 than men. The statistical prediction for depression showed a good fit. This depression could be related both directly and positively by fear of COVID-19 and stress, and indirectly, as a result of these two factors, positively mediated by anxiety.