Bilateral insufficiency fracture of coracoid process: A rare case report.

A 69-year-old man was admitted to the hospital for a left femoral neck fracture. A preliminary chest computed tomography scan showed no coracoid process fracture. The patient had no history of trauma during his hospitalization. However, subsequent in-hospital computed tomography scan revealed bilateral coracoid process fracture. The patient underwent hip replacement surgery for femoral neck fracture, while conservative treatment was administered for the bilateral coracoid process fracture. After 1-year follow-up, the patient was diagnosed with bilateral insufficiency fracture of coracoid process after ruling out other types of fractures. The fractures did not heal while functions in both shoulders were adequate. Insufficiency fracture should be considered when fractures occur without trauma, especially in the presence of associated risk factors such as chronic renal failure and osteoporosis. For bilateral insufficiency fracture of coracoid process, conservative treatment is acceptable.

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Purpose: This study aimed to develop a prediction model to classify RPE65-mediated inherited retinal disease (IRDs) based on protein secondary structure and to analyze phenotype-protein structure correlations of RPE65 missense variants in a Chinese cohort. Methods: Pathogenic or likely pathogenic missense variants of RPE65 were obtained from UniProt, ClinVar, and HGMD databases. The three-dimensional structure of RPE65 was retrieved from the Protein Data Bank (PDB) and modified with Pymol software. A novel prediction model was developed using LASSO regression and multivariate logistic regression to identify RPE65-associated IRDs. A total of 21 Chinese probands with RPE65 variants were collected to analyze phenotype-protein structure correlations of RPE65 missense variants. Results: The study found that both pathogenic and population missense variants were associated with structural features of RPE65. Pathogenic variants were linked to sheet, ß-sheet, strands, ß-hairpins, Fe2+ (iron center), and active site cavity, while population variants were related to helix, loop, helices, and helix-helix interactions. The novel prediction model showed accuracy and confidence in predicting the disease type of RPE65 variants (AUC = 0.7531). The study identified 25 missense variants in Chinese patients, accounting for 72.4% of total mutations. A significant correlation was observed between clinical characteristics of RPE65-associated IRDs and changes in amino acid type, specifically for missense variants of F8 (H68Y, P419S). Conclusion: The study developed a novel prediction model based on the protein structure of RPE65 and investigated phenotype-protein structure correlations of RPE65 missense variants in a Chinese cohort. The findings provide insights into the precise diagnosis of RPE65-mutated IRDs.

Mutational spectrum in a Chinese cohort with congenital cataracts.

BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. METHODS: Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis. RESULTS: After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty-four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified. CONCLUSION: This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.

Sulfonated PAM/PPy Cryogels with Lowered Evaporation Enthalpy for Highly Efficient Photothermal Water Evaporation.

Because of the increasing scarcity of water resources, the desalination of seawater by photothermal evaporation with harvested solar energy has gradually become a popular research topic. The interconnected macroporous cryogel prepared from polymerization and crosslinking below the freezing temperature of the reactant solution has an excellent performance in photothermal water evaporation after loading photothermal materials. In this study, polyacrylamide (PAM) cryogels were prepared by cryo-polymerization and sulfonated in an alkaline solution containing formaldehyde and Na2SO3. Importantly, the evaporation enthalpy of water in sulfonated PAM cryogel was reduced to 1187 J·g-1 due to the introduction of sulfonate groups into PAM, which was beneficial to increase the photothermal evaporation rate and efficiency. The sulfonated PAM cryogels loaded with polypyrrole and the umbrella-shaped melamine foam substrate were combined to form a photothermal evaporation device, and the evaporation rate was as high as 2.50 kg·m-2·h-1 under one-sun radiation. Meanwhile, the evaporation rate reached 2.09 kg·m-2·h-1 in the 14 wt% high-concentration saline solution, and no salt crystals appeared on the surface of the cryogel after 5 h of photothermal evaporation. Therefore, it was evidenced that the presence of sulfonate groups not only reduced the evaporation enthalpy of water but also prevented salting-out from blocking the water delivery channel during photothermal evaporation, with a sufficiently high evaporation rate, providing a reliable idea of matrix modification for the design of high-efficiency photothermal evaporation materials.

Expression profile analysis to predict potential biomarkers for glaucoma: BMP1, DMD and GEM.

PURPOSE: Glaucoma is the second commonest cause of blindness. We assessed the gene expression profile of astrocytes in the optic nerve head to identify possible prognostic biomarkers for glaucoma. METHOD: A total of 20 patient and nine normal control subject samples were derived from the GSE9944 (six normal samples and 13 patient samples) and GSE2378 (three normal samples and seven patient samples) datasets, screened by microarray-tested optic nerve head tissues, were obtained from the Gene Expression Omnibus (GEO) database. We used a weighted gene coexpression network analysis (WGCNA) to identify coexpressed gene modules. We also performed a functional enrichment analysis and least absolute shrinkage and selection operator (LASSO) regression analysis. Genes expression was represented by boxplots, functional geneset enrichment analyses (GSEA) were used to profile the expression patterns of all the key genes. Then the key genes were validated by the external dataset. RESULTS: A total 8,606 genes and 19 human optic nerve head samples taken from glaucoma patients in the GSE9944 were compared with normal control samples to construct the co-expression gene modules. After selecting the most common clinical traits of glaucoma, their association with gene expression was established, which sorted two modules showing greatest correlations. One with the correlation coefficient is 0.56 (P = 0.01) and the other with the correlation coefficient is -0.56 (P = 0.01). Hub genes of these modules were identified using scatterplots of gene significance versus module membership. A functional enrichment analysis showed that the former module was mainly enriched in genes involved in cellular inflammation and injury, whereas the latter was mainly enriched in genes involved in tissue homeostasis and physiological processes. This suggests that genes in the green-yellow module may play critical roles in the onset and development of glaucoma. A LASSO regression analysis identified three hub genes: Recombinant Bone Morphogenetic Protein 1 gene (BMP1), Duchenne muscular dystrophy gene (DMD) and mitogens induced GTP-binding protein gene (GEM). The expression levels of the three genes in the glaucoma group were significantly lower than those in the normal group. GSEA further illuminated that BMP1, DMD and GEM participated in the occurrence and development of some important metabolic progresses. Using the GSE2378 dataset, we confirmed the high validity of the model, with an area under the receiver operator characteristic curve of 85%. CONCLUSION: We identified several key genes, including BMP1, DMD and GEM, that may be involved in the pathogenesis of glaucoma. Our results may help to determine the prognosis of glaucoma and/or to design gene- or molecule-targeted drugs.

Effect of glycogen synthase and glycogen phosphorylase knockdown on the expression of glycogen- and insulin-related genes in the rice brown planthopper Nilaparvata lugens.

Nilaparvata lugens is a serious threat to rice growth. Glycogen metabolism is one of the important physiological processes of insects, which is mainly regulated by glycogen synthase (GS) and glycogen phosphorylase (GP). In the present study, trehalose content was significantly reduced at 72 h after NlGP and NlGS knockdown, whereas glucose content was significantly increased at both 48 h and 72 h after GS knockdown. RNAi combined with RNA-Seq was used to identify NlGP- and NlGS-related pathways and genes in N. lugens. A total of 593 genes were up-regulated and 5969 genes were down-regulated after NlGP and NlGS knockdown, respectively. Moreover, the NlGS-knockdown group was mapped to 10,967 pathways, whereas the NlGP-knockdown group was mapped to 7948 pathways, and the greatest differences between the groups were associated with carbohydrate, lipid, amino acid and energy metabolism. Meanwhile, 1800, 1217, and 1211 transcripts in the NlGP-knockdown group and 2511, 1666, and 1727 transcripts in the NlGS-knockdown group were involved in bioprocess, cellular ingredients and molecular function, respectively. Almost all these genes were down-regulated by either NlGP or NlGS knockdown, with significant down-regulation of the 6-trehalose phosphate synthase (TPS), trehalase (TRE), GS, GP, phosphoacetylglucosamine mutase (PGM, n = 2), Insulin receptors (InRs) and insulin-like peptides (Ilps) genes. These results have demonstrated that RNAi-mediated NlGP and NlGS knockdown could lead to content of trehalose and glucose out of balance, but have no obvious effect on glycogen content, and have suggested that GS plays more complex role in other metabolism pathway of N. lugens.

Insect Behavior and Physiological Adaptation Mechanisms Under Starvation Stress.

Intermittent food shortages are commonly encountered in the wild. During winter or starvation stress, mammals often choose to hibernate while insects-in the form of eggs, mature larvae, pupae, or adults opt to enter diapause. In response to food shortages, insects may try to find sufficient food to maintain normal growth and metabolism through distribution of populations or even migration. In the face of hunger or starvation, insect responses can include changes in behavior and/or maintenance of a low metabolic rate through physiological adaptations or regulation. For instance, in order to maintain homeostasis of the blood sugar, trehalose under starvation stress, other sugars can be transformed to sustain basic energy metabolism. Furthermore, as the severity of starvation increases, lipids (especially triglycerides) are broken down to improve hunger resistance. Starvation stress simultaneously initiates a series of neural signals and hormone regulation processes in insects. These processes involve neurons or neuropeptides, immunity-related genes, levels of autophagy, heat shock proteins and juvenile hormone levels which maintain lower levels of physiological metabolic activity. This work focuses on hunger stress in insects and reviews its effects on behavior, energy reserve utilization, and physiological regulation. In summary, we highlight the diversity in adaptive strategies of insects to hunger stress and provides potential ideas to improve hunger resistance and cold storage development of natural enemy insects. This gist of literature on insects also broadens our understanding of the factors that dictate phenotypic plasticity in adjusting development and life histories around nutritionally optimal environmental conditions.

Characterization of the Akirin Gene and Its Role in the NF-κB Signaling Pathway of Sogatella furcifera.

Akirin is an essential nuclear protein involved in the regulation of NF-κB signaling pathway. In most invertebrates, Akirin regulates NF-κB-related Imd and Toll pathways, however, in Drosophila, it only controls the Imd pathway, whereas its role in NF-κB signaling pathway in other insect species is unclear. In the present study, we used white-backed planthopper Sogatella furcifera as a model to investigate the functional activity of Akirin in insects. The sequence of Akirin cDNA was extracted from transcriptome database of S. furcifera; it contained a 585 bp open reading frame (ORF) encoding a putative protein of 194 amino acids. S. furcifera Akirin (SfAkirin) had a molecular weight of about 21.69 kDa and a theoretical pI of 8.66 and included a nuclear localization signal (NLS) of five amino acid residues at the N-terminal region. Evolutionary analysis showed that SfAkirin was evolutionary closer to Akirins of such relatively distant species as crustaceans than to those of some insect orders like Diptera and Hymenoptera. Tissue-specific expression analysis showed that the SfAkirin gene was expressed in all examined tissues, with the highest expression levels detected in the testis, followed by the ovary, whereas the lowest expression was found in the head. Real-time quantitative PCR analysis showed that SfAkirin mRNA was strongly induced in response to injection of heat-inactivated Escherichia coli and Bacillus subtilis, whereas SfAkirin silencing by RNA interference significantly reduced the expression of NF-κB dependent transcription factors Dorsal and Relish after B. subtilis and E. coli challenge, respectively. Our results suggest that SfAkirin may control the immune response of S. furcifera against bacterial infection via both Imd and Toll signaling pathways.

Application of CRISPR/Cas9 system in breeding of new antiviral plant germplasm.

With the development and improvement of CRISPR/Cas9 system in genomic editing technology, the system has been applied to the prevention and control of animal viral infectious diseases, which has made considerable achievements. It has also been applied to the study of highly efficient gene targeting editing in plant virus genomes. The CRISPR/Cas9-mediated targeted gene modification has not only achieved the genome editing of plant DNA virus, but also showed the genome editing potential of plant RNA virus. In addition, the CRISPR/Cas9 system functions at the gene transcriptional and post-transcriptional level, indicating that the system could regulate the replication of plant viruses through different ways. Compared with other plant viral disease control strategies, this system is more accurate in genome editing, more stable in gene expression regulation, and has broader spectrum of resistance to virus disease. In this review, we summarized the advantages, main problems and development tendency of CRISPR/cas9 system in breeding of new antiviral plant germplasms.

New substitute name for the genus Napo Shaw, 2012 (Hymenoptera: Braconidae: Euphorinae).

The braconid genus Napo was established by Shaw (2012) for a single species Napo townsendi Shaw, 2012 from Napo Province, Ecuador. However, the genus name Napo is preoccupied and was initially introduced by Linnavuori & DeLong (1976) for a deltocephalinae leafhopper genus with Napo brazosellus Linnavuori & DeLong, 1976 as the type species (Hemiptera: Cicadellidae). Thus, the genus Napo Shaw, 2012 is a junior homonym of the genus Napo Linnavuori & DeLong, 1976. According to Article 60 of the ICZN (2015), we propose the new replacement name Yanayacu nom. nov. for Napo Shaw, 2012. The resulting nomenclatural changes are summarized below.

New substitute name for the genus Poliocoris Slater, 1994 (Hemiptera, Heteroptera, Rhyparochromidae).

Neopoliocoris nom. n., a new substitute name is proposed for Poliocoris Slater, 1994 (Hemiptera: Heteroptera: Rhyparochromidae), preoccupied by Poliocoris Kirkaldy, 1910 (Hemiptera: Heteroptera: Pentatomidae). A new combination, Neopoliocorisumbrosus (Slater, 1994), comb. n. is proposed for Poliocorisumbrosus Slater, 1994.