Perkinsjuhl3472

OBJECTIVE To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. METHODS Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies were performed on all patients. RESULTS There were 7 patients with 15 PIGN mutations (one patient carrying 3 mutations), 8 patients with 8 PIGA mutations, and 2 patients with 5 PIGT mutations (one patient carrying 3 mutations). All patients had epilepsy and developmental delay, with 71% of them showed hypotonia. And among these patients' various seizure types, the focal seizure was the most common one. Eighty-two percent patients showed a significant relationship between seizures and fever. Serum ALP was elevated in one patient with PIGN mutations and in two patients with PIGA mutations. Brain MRI showed enlarged subarachnoid space in 56% of patients. Some other different characteristics had also been found in our pataused by PIGA mutations should be more continuous than discrete. The mild phenotype of one patient with PIGT mutations expanded the clinical presentation of MCAHS3.As of March 8, 2020, the novel coronavirus disease 2019 (COVID-19) had caused 80,815 human infections and 3073 deaths in China, including more than 3000 infections among medical staff. Guangdong Second Provincial General Hospital (Guangzhou, Guangdong Province, China), a provincial emergency hospital, has treated more than 35 confirmed cases of COVID-19 and more than 260 suspected cases. Most of nurses' work involves direct contact with patients. As nurses have high vulnerability to COVID-19, it is necessary to establish hospital-specific protocols to reduce the risk of nurses' infection in interactions with COVID-19 patients. Our hospital has maintained a "zero nurse infection" rate while battling SARS in 2003 and during the present COVID-19 epidemic. The following are the key measures implemented in our hospital.BACKGROUND Pear is one of the most important fruit crops worldwide. Anthocyanins and procyanidins (PAs) are important secondary metabolites that affect the appearance and nutritive quality of pear. However, few studies have focused on the molecular mechanism underlying anthocyanin and PA accumulation in pear. RESULTS We conducted metabolome and transcriptome analyses to identify candidate genes involved in anthocyanin and PA accumulation in young fruits of the pear cultivar 'Clapp Favorite' (CF) and its red mutation cultivar 'Red Clapp Favorite' (RCF). Gene-metabolite correlation analyses revealed a 'core set' of 20 genes that were strongly correlated with 10 anthocyanin and seven PA metabolites. Of these, PcGSTF12 was confirmed to be involved in anthocyanin and PA accumulation by complementation of the tt19-7 Arabidopsis mutant. Interestingly, PcGSTF12 was found to be responsible for the accumulation of procyanidin A3, but not petunidin 3, 5-diglucoside, opposite to the function of AtGSTs in Arabidopsis. Transformation with PcGSTF12 greatly promoted or repressed genes involved in anthocyanin and PA biosynthesis, regulation, and transport. Electrophoretic mobility shift and luciferase reporter assays confirmed positive regulation of PcGSTF12 by PcMYB114. CONCLUSION These findings identify a core set of genes for anthocyanin and PA accumulation in pear. Of these, PcGSTF12, was confirmed to be involved in anthocyanin and PA accumulation. Our results also identified an important anthocyanin and PA regulation node comprising two core genes, PcGSTF12 and PcMYB114. These results provide novel insights into anthocyanin and PA accumulation in pear and represent a valuable data set to guide future functional studies and pear breeding.BACKGROUND The purpose of this study was to evaluate the role of C-reactive protein (CRP) in predicting neurological outcomes of patients with subarachnoid hemorrhage (SAH). METHODS In this retrospective, observational study of adult patients with SAH treated between January 2012 and June 2017. Initial CRP levels collected within 24 h from the onset of SAH, the follow-up CRP levels were measured. The primary outcome was neurological status at six-month follow-up assessed with the Glasgow Outcome Scale (GOS, 1 to 5). RESULTS Among 156 patients with SAH, 145 (92.9%) survived until discharge. Of these survivors, 109 (69.9%) manifested favorable neurological outcomes (GOS of 4 or 5). Initial CRP levels on admission and maximal CRP levels within four days were significantly higher in the group with poor neurological outcome compared with those manifesting favorable neurological outcomes (P = 0.022, P  less then  0.001, respectively). However, the clearance of CRPs did not differ significantly between the two groupiated with poor neurological outcomes in SAH patients. Derazantinib CONCLUSIONS Early serial measurements of CRP may be used to predict neurological outcomes of SAH patients. Furthermore, maximal CRP levels within four days post-SAH are significantly correlated with poor neurological outcomes.BACKGROUND Atherosclerotic cardiovascular diseases (ASCVD) are on the rise in low and middle-income countries attributed to modern sedentary lifestyle and dietary habits. This has led to the need of assessment of the burden of at-risk population so that prevention measures can be developed. The objective of this study was to assess ten years risk assessment of ASCVD using Astro-CHARM and Pooled Cohort Equation (PCE) in a South Asian sub-population. METHODS A total of 386 residents of all six districts of Karachi with no ASCVD were enrolled in the study through an exponential non-discriminative referral snowball sampling technique. The inclusion criteria consisted of age 40 years or above and either gender. Study participants were enrolled after obtaining informed written consent and those study participants who were found to have either congenital heart disease or valvular heart diseases or ischemic heart disease were excluded from the study based on initial screening. For the calculation of 10 years risk of ACVD based on Astro-CHARM and PCE, the variables were obtained including medical history and coronary artery calcium and C-reactive protein measurements. RESULTS Mean estimated 10-year risk of fatal or non-fatal myocardial infarction or stroke as per the Astro-CHARM was 13.98 ± 8.01%, while mean estimated 10-year risk of fatal or non-fatal myocardial infarction or stroke as per the PCE was 22.26 ± 14.01%. Based on Astro-CHARM, 11.14% of the study participants were labeled as having high risk, while PCE estimated 20.73% of study participants as having high risk of ASCVD. CONCLUSION Despite the fact that our findings showed substantial differences in ten-year risk of ASCVD between Astro-CHARM and PCE, both calculators can be used to develop a new population and specific risk estimators for this South Asian sub-population. Our study provides the first step towards developing a risk assessment guided decision-making protocol for primary prevention of ASCVD in this population.