Type II Crigler-Najjar syndrome: a case report and literature review

BackgroundCrigler-Najjar syndrome (CNS) is caused by mutations in uridine 5′-diphosphate glucuronyltransferase (UGT1A1) resulting in enzyme deficiency and hyperbilirubinemia. Type II CNS patients could respond to phenobarbital treatment and survive. This study presents a rare case of type II CNS.Case summaryThe proband was a 29-year-old male patient admitted with severe jaundice. A hepatic biopsy showed bullous steatosis of the peri-central veins of the hepatic lobule, sediment of bile pigment, and mild periportal inflammation with normal liver plate structure. The type II CNS was diagnosed by routine genomic sequencing which found that the proband with the Gry71Arg/Tyr486Asp compound heterozygous mutations in the UGT1A1 gene. After treatment with phenobarbital (180 mg/day), his bilirubin levels fluctuated between 100 and 200 μmol/L for 6 months and without severe icterus.ConclusionType II CNS could be diagnosed by routine gene sequencing and treated by phenobarbital

The Genomes of Oryza sativa: A History of Duplications

We report improved whole-genome shotgun sequences for the genomes of indica and japonica rice, both with multimegabase contiguity, or almost 1,000-fold improvement over the drafts of 2002. Tested against a nonredundant collection of 19,079 full-length cDNAs, 97.7% of the genes are aligned, without fragmentation, to the mapped super-scaffolds of one or the other genome. We introduce a gene identification procedure for plants that does not rely on similarity to known genes to remove erroneous predictions resulting from transposable elements. Using the available EST data to adjust for residual errors in the predictions, the estimated gene count is at least 38,000–40,000. Only 2%–3% of the genes are unique to any one subspecies, comparable to the amount of sequence that might still be missing. Despite this lack of variation in gene content, there is enormous variation in the intergenic regions. At least a quarter of the two sequences could not be aligned, and where they could be aligned, single nucleotide polymorphism (SNP) rates varied from as little as 3.0 SNP/kb in the coding regions to 27.6 SNP/kb in the transposable elements. A more inclusive new approach for analyzing duplication history is introduced here. It reveals an ancient whole-genome duplication, a recent segmental duplication on Chromosomes 11 and 12, and massive ongoing individual gene duplications. We find 18 distinct pairs of duplicated segments that cover 65.7% of the genome; 17 of these pairs date back to a common time before the divergence of the grasses. More important, ongoing individual gene duplications provide a never-ending source of raw material for gene genesis and are major contributors to the differences between members of the grass family

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Corona virus anxiety and Chinese students’ cognitive, affective, and behavioral engagement, and academic resilience: correlations and perceptions

Abstract Background This study delves into the correlation between Corona Virus Anxiety (CVA) and the engagement as well as academic resilience of Chinese students. The context is set against the backdrop of the global pandemic, highlighting the potential psychological impact of COVID-19 on students’ well-being and academic performance. Objectives The primary objectives of this research are to investigate the relationship between CVA and various dimensions of student engagement, including affective, behavioral, and cognitive aspects. Additionally, the study aims to explore how CVA influences academic resilience, with a focus on persistence and self-regulation. The dual-objective approach employs both quantitative and qualitative methods to provide a comprehensive understanding of the subject matter. Methodology A mixed-methods approach is employed, combining quantitative data from scales measuring CVA, engagement, and academic resilience with qualitative insights obtained through interviews. The research sample consists of 390 students from Mudanjiang Medical University. Quantitative data are analyzed using Pearson correlation tests, while thematic analysis is applied to interpret the qualitative findings from interviews. Results Quantitative data analysis reveals significant negative correlations between CVA and multiple dimensions of student engagement, indicating that higher CVA levels are associated with lower engagement levels. Academic resilience, though relatively high among participants, also exhibits negative correlations with CVA, particularly in terms of persistence and self-regulation. The qualitative findings uncover six main themes elucidating the impact of CVA on students, ranging from emotional and cognitive engagement to the social and technological challenges posed by the pandemic. Conclusions and implications The research concludes that CVA significantly influences students’ engagement and academic resilience. The qualitative insights contribute to a nuanced understanding of the diverse challenges students face during the pandemic. These findings have broad implications for students, university administrators, educators, and educational psychologists, highlighting the importance of addressing mental health concerns and providing adequate support systems in the context of global crises

Body mass index predicts aldosterone production in hypertensive postmenopausal women

Hypertension is a common clinical problem, and increased aldosterone is the most prevalent underlying characteristic. Related works have shown exciting results on the effects of various conditions on aldosterone content, but the correlation between aldosterone levels and body mass index (BMI) in premenopausal women has not yet been investigated. We herein report a cross-sectional analysis aimed to determine whether BMI is proportional to plasma aldosterone concentration in premenopausal and postmenopausal hypertensive women. The analysis of consecutive admitted female patients with hypertension revealed potential relationships among plasma aldosterone concentration, plasma renin activity, oestrogen, and BMI. It should be noted that plasma aldosterone concentration was significantly correlated with BMI (p < .05) in postmenopausal women, and both plasma aldosterone and oestrogen levels were decreased in premenopausal women. These findings suggest that BMI has a positive impact on aldosterone in postmenopausal hypertensive women but not in premenopausal women. Additionally, we predict that endogenous oestrogen may be an important indication of aldosterone changes in premenopausal hypertensive women of different body weights

Sustainable land financing in a new urbanization context: Theoretical connotations, empirical tests and policy recommendations

This paper explores the theoretical connotation of sustainable land financing and examines its evolution in China. The empirical results demonstrate that the Chinese land financing sustainability index considerably fluctuated from 1999-2011, and has since remained relatively low. It is found that structure disequilibrium, lack of a driving-force mechanism, inefficient income and land financing instability considerably hinder the sustainable development of land financing. It is concluded that reform measures such as transforming local government revenue patterns, adjusting land financing structures and increasing land tax revenue can bring about an improvement. This is not only of theoretical value but also of practical great value for promoting the reform of sustainable land financing

Academic Web Search Engine — Generating a Survey Automatically

Given a document repository, search engine is very helpful to retrieve information. Currently, vertical search is a hot topic, and Google Scholar [4] is an example for academic search. However, most vertical search engines only return the flat ranked list without an efficient result exhibition for given users. We study this problem and designed a vertical search engine prototype Dolphin, where the flexible user-oriented templates can be defined and the survey-like results are presented according to the template. Categories and Subject Descriptor