STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16

We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T>C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes

Supported molybdenum carbide for higher alcohol synthesis from syngas

Molybdenum carbide supported on active carbon, carbon nanotubes, and titanium dioxide, and promoted by K2CO3, has been prepared and tested for methanol and higher alcohol synthesis from syngas. At optimal conditions, the activity and selectivity to alcohols (methanol and higher alcohols) over supported molybdenum carbide are significantly higher compared to the bulk carbide. The CO conversion reaches a maximum, when about 20 wt% Mo2C is loaded on active carbon. The selectivity to higher alcohols increases with increasing Mo2C loading on active carbon and reaches a maximum over bulk molybdenum carbide, while the selectivity to methanol follows the opposite trend. The effect of Mo2C loading on the alcohol selectivity at a fixed K/Mo molar ratio of 0.14 could be related to the amount of K2CO3 actually on the active Mo2C phase and the size, structure and composition of the supported carbide clusters. Unpromoted, active carbon supported Mo2C exhibits a high activity for CO conversion with hydrocarbons as the dominant products. The K 2CO3 promoter plays an essential role in directing the selectivity to alcohols rather than to hydrocarbons. The optimum selectivity toward higher alcohols and total alcohols is obtained at a K/Mo molar ratio of 0.21 over the active carbon supported Mo2C (20 wt%)

Clinical Outcomes and Independent Risk Factors for 90-Day Mortality in Critically Ill Patients with Respiratory Failure Infected with SARS-CoV-2: A Multicenter Study in Turkish Intensive Care Units

Background: There are limited data on the long-term outcomes of COVID-19 from different parts of the world. Aims: To determine risk factors of 90-day mortality in critically ill patients in Turkish intensive care units (ICUs), with respiratory failure. Study design: Retrospective, observational cohort. Methods: Patients with laboratory-confirmed COVID-19 and who had been followed up in the ICUs with respiratory failure for more than 24 hours were included in the study. Their demographics, clinical characteristics, laboratory variables, treatment protocols, and survival data were recorded. Results: A total of 421 patients were included. The median age was 67 (IQR: 57-76) years, and 251 patients (59.6%) were men. The 90-day mortality rate was 55.1%. The factors independently associated with 90-day mortality were invasive mechanical ventilation (IMV) (HR 4.09 [95% CI: [2.20-7.63], P2 mmol/L (2.78 [1.93-4.01], P= 60 years (2.45 [1.48-4.06)], P= 600 mL/day (1.68 [1.21-2.34], P=.002), PaO2/FiO(2) ratio of = 1 (1.42 [1.00-2.02], P=.050). Conclusion: Long-term mortality was high in critically ill patients with COVID-19 hospitalized in intensive care units in Turkey. Invasive mechanical ventilation, lactate level, age, cardiac arrhythmia, vasopressor therapy, positive fluid balance, severe hypoxemia and ECOG score were the independent risk factors for 90-day mortality.WOS:0007008536000072-s2.0-85115428262PubMed: 3455841