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This analysis evaluates the characteristics of conventional nanofluid heat transfer with those of emerging hybrid nanofluid. Hybrid nanofluid, a new type of conventional fluid, has been used toward the enhancement of heat transfer in the boundary layer flow. This research also prompts that 0.001 solid volume fraction of Gold (Au) is fixed, then consequently, various solid volume fractions of Molybdenum disulfide (Mo) are added into the mixture with water as the base fluid to form Au - Mo/water hybrid nanofluid. Using the necessary similarity variables, the governing non-linear partial differential equations are resolved into a system of coupled ordinary non-linear differential equations. The transformed equations are numerically solved by employing the Runge-Kutta Fehlberg method with shooting technique. The numerical parametric analysis, which has been conducted to explore the effects of different physical parameters involved in the problem, provides comparisons. The present problem is new, original, with many substantial findings in the current industry for practical problems. It is found that dual solutions exist up to a certain value of the decreases as nanoparticle volume fractions for Molybdenum disulfide increase. [ABSTRACT FROM AUTHOR]

Since Krabbe disease is a kind of LDLs, and some patients with LDLs could exhibit MS phenotype; therefore, we believe that Mongolian spot might be a new phenotype of Krabbe disease. In fact, according to global reports, the phenotype and genotype of Krabbe disease are diverse and can be accompanied by hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and Kennedy disease [[10]-[12]]. 6560759 11 Xu C, Sakai N, Taniike M, Inui K, Ozono K. Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. [Extracted from the article]

Lung cancer is a common malignant tumor disease with high clinical disability and death rates. Currently, lung cancer diagnosis mainly relies on manual pathology section analysis, but the low efficiency and subjective nature of manual film reading can lead to certain misdiagnoses and omissions. With the continuous development of science and technology, artificial intelligence (AI) has been gradually applied to imaging diagnosis. Although there are reports on AI-assisted lung cancer diagnosis, there are still problems such as small sample size and untimely data updates. Therefore, in this study, a large amount of recent data was included, and meta-analysis was used to evaluate the value of AI for lung cancer diagnosis. With the help of STATA16.0, the value of AI-assisted lung cancer diagnosis was assessed by specificity, sensitivity, negative likelihood ratio, positive likelihood ratio, diagnostic ratio, and plotting the working characteristic curves of subjects. Meta-regression and subgroup analysis were used to investigate the value of AI-assisted lung cancer diagnosis. The results of the meta-analysis showed that the combined sensitivity of the AI-aided diagnosis system for lung cancer diagnosis was 0.87 [95% CI (0.82, 0.90)], specificity was 0.87 [95% CI (0.82, 0.91)] (CI stands for confidence interval.), the missed diagnosis rate was 13%, the misdiagnosis rate was 13%, the positive likelihood ratio was 6.5 [95% CI (4.6, 9.3)], the negative likelihood ratio was 0.15 [95% CI (0.11, 0.21)], a diagnostic ratio of 43 [95% CI (24, 76)] and a sum of area under the combined subject operating characteristic (SROC) curve of 0.93 [95% CI (0.91, 0.95)]. Based on the results, the AI-assisted diagnostic system for CT (Computerized Tomography), imaging has considerable diagnostic accuracy for lung cancer diagnosis, which is of significant value for lung cancer diagnosis and has greater feasibility of realizing the extension application in the field of clinical diagnosis. [ABSTRACT FROM AUTHOR]

Carbapenem-resistant Klebsiella pneumoniae are distributed worldwide. This study aimed to characterize a hypervirulent tigecycline-resistant and carbapenem-resistant Klebsiella pneumoniae strain, XJ-K2, collected from a patient's blood. We tested antimicrobial susceptibility, virulence, and whole-genome sequencing (WGS) on strain XJ-K2. WGS data were used to identify virulence and resistance genes and to perform multilocus sequence typing (MLST) and phylogenetic analysis. Three novel plasmids, including a pLVPK-like virulence plasmid (pXJ-K2-p1) and two multiple resistance plasmids (pXJ-K2-KPC-2 and pXJ-K2-p3), were discovered in strain XJ-K2. The IncFII(pCRY) plasmid pXJ-K2-p3 carried the dfrA14, sul2, qnrS1, blaLAP-2, and tet(A) resistance genes. The IncFII(pHN7A8)/IncR plasmid pXJ-K2-KPC-2 also carried a range of resistance elements, containing rmtB, blaKPC-2, blaTEM-1, blaCTX-M-65, and fosA3. MLST analysis revealed that strain XJ-K2 belonged to sequence type 11 (ST11). Seven complete phage sequences and many virulence genes were found in strain XJ-K2. Meanwhile, antimicrobial susceptibility tests and G. mellonella larval infection models confirmed the extensively drug resistance (XDR) and hypervirulence of KJ-K2. To our knowledge, this is the first observation and description of the ST11 hypervirulent tigecycline- and carbapenem-resistant K. pneumoniae strain co-carrying blaKPC-2 and the tet(A) in a patient's blood in China. Further investigation is needed to understand the resistance and virulence mechanisms of this significant hypervirulent tigecycline- and carbapenem-resistant strain. [ABSTRACT FROM AUTHOR]

Multiple morphological abnormalities of the sperm flagella (MMAF), characteristic with bent, short, coiled, absent, and abnormal caliber flagella, is an important basis of male infertility. Genetic factors account for a large proportion of patients with MMAF. The fibrous sheath interacting protein 2 (FSIP2) has a significant function in the spermatogenesis and flagellar motility. In our study, a novel compound heterozygous mutation (c.1494C > A, p.C498* and c.11020_11024del, p.Tyr3675Cysfs*3) in FSIP2 gene was identified in an infertile male patient with MMAF. H&E staining presented typical MMAF phenotype and thick neck, midpiece in the patient's sperm cells. Transmission electron microscopy observation showed abnormal mitochondrial arrangement and disorganization and dysplastic of the fibrous sheath (FS), which were verified again under light microscopy. Immunofluorescence (IF) analysis of FISP2 expression showed that FSIP2 was absent in the flagellum of the patient's sperm cells. Our findings will be helpful to the precise diagnosis of MMAF and male infertility and enrich the mutational spectrum of FSIP2 gene. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to identify the genetic cause of two cases of Kufs disease in the same family. The two affected individuals exhibited different levels of severity under magnetic resonance imaging (MRI). Methods: Whole-exome sequencing was performed on affected individuals, and the candidate gene was confirmed by Sanger sequencing. Western blot analysis was used to evaluate the level of expression of CLN6 protein in 239T cells. Results: We identified a novel homozygous mutation of the CLN6 gene (c.14G>T, p.Arg5Leu) in a consanguineous Chinese family in which two people had Kufs disease. Both patients exhibited seizures and progressive psychomotor decline and mental deterioration without visual impairment. They had different ages of onset, although they carried the same missense mutation. The affected female showed a pronounced abnormal MRI signal in the bilateral hippocampus, while her younger brother only showed a very slight abnormal signal. Further study showed that this missense mutation could decrease the level of expression of CLN6 protein. Conclusions: A novel homozygous mutation of the CLN6 gene was identified, and patients with the same mutation showed different ages of onset and different levels of severity under MRI. Significance: Our study established that the same CLN6 mutation could produce different phenotypes in patients, and it has expanded the mutational and phenotypical spectrum of the CLN6 gene. [ABSTRACT FROM AUTHOR]

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Synpolydactyly (SPD) is a digital malformation with the typical clinical phenotype of the webbing of 3/4 fingers and/or 4/5 toes, and combined with polydactyly. In this study, we investigated a Chinese family with SPD and genetic analysis found that all of the affected individuals in the family carry a heterozygous 11,451 bp microdeletion at chr2:176933872‐176945322 (GRCh37), which is located upstream of HOXD13 gene, the known disease gene for SPD1. All the affected individuals in the family carry the heterozygous deletion variant, and the variant co‐segregated with SPD in the family. Thus, we speculate that the 11,451 bp microdeletion is the disease‐causing variant in the family. To date, the microdeletion associating with SPD1 which we identified is the smallest deletion upstream of the HOXD13 gene and not altering the sequence of the HOXD13 gene. [ABSTRACT FROM AUTHOR]

The outbreak of COVID-19 at the end of 2019 has had a significant impact on people. While attention is paid to the immense physical harm it has caused, the psychological impact should not be underestimated. The main purpose of this study was to explore the stress, anxiety, and depression levels of different groups of college students during the COVID-19 pandemic. We conducted an online questionnaire survey of college students by using the Perceived Stress Scale (PSS-10), the Patient Health Questionnaire-9 items (PHQ-9), and the Self-rating Anxiety Scale (SAS). A total of 1,586 questionnaires were collected and analyzed in R language. The results showed that students with moderate to severe stress (PSS-10 ≥ 14) accounted for 67.50%; the detection rate of depression (PHQ-9 ≥ 5) reached 43.77%; and 20.60% of students had anxiety (SAS standard score ≥ 50). There were significant differences in PSS-10/SAS among different genders, majors, whether returning to school or not, and those with different psychological experiences (negative or positive, P < 0.05). It is notable that the median of female, medical student, non-resumption of schooling, and negative experience was higher than that of positive experience (P < 0.05). The results of principal component analysis showed that there were significant differences in PHQ-9, PSS-10, and SAS between the resumption of schooling group and the non-resumption group. Therefore, it is inferred that the stress and anxiety level of college students during the COVID-19 pandemic is generally high, especially for those who have not yet resumed school. Long-term negative emotions can easily lead to serious mental diseases such as cognitive impairment. Education departments should attach great importance to the mental health of college students, and it is necessary to provide precise psychological interventions for groups experiencing greater pressure levels and marked anxiety and depression. [ABSTRACT FROM AUTHOR]

Abstract Background KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death. To investigate the disease expressivity, this study aimed to identify mutations and common variants that can modify LQTS phenotype. Methods In this study, a cohort of 112 LQTS families were investigated. Among them two large LQTS families linkage analysis with markers spanning known LQTS genes was carried out to identify the specific gene for mutational analysis. All exons and exon-intron boundaries of KCNH2 and KCNQ1 were sequenced for mutational analysis. Results LQTS-associated mutations were identified in eight of 112 families. Two novel mutations, L187P in KCNQ1 and 2020insAG in KCNH2, were identified. Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. KCNH2 SNP K897T was reported to exert a modifying effect on QTc, but it remains controversial whether it confers a risk or protective effect. Notably, we have found that SNP K897T interacts with mutation A490T in cis orientation. Seven carriers for A490T and the minor allele T of SNP K897T showed shorter QTc and fewer symptoms than carriers with A490T or A490P (P < 0.0001). Conclusion Our family-based approach provides support that KCNH2 SNP K897T confers a protective effect on LQTS patients. Our study is the first to investigate the effect of SNP K897T on another KCNH2 mutation located in cis orientation. Together, our results expand the mutational and clinical spectrum of LQTS and provide insights into the factors that determine QT prolongation associated with increased risk of ventricular tachycardia and sudden death.

Abstract Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III). Type II DGI is one of the most common tooth defects with an autosomal dominant mode of inheritance. One disease-causing gene, the dentin sialophosphoprotein (DSPP) gene, has been reported for type II DGI. Methods In this study, we characterized a four-generation Chinese family with type II DGI that consists of 18 living family members, including 8 affected individuals. Linkage analysis with polymorphic markers D4S1534 and D4S414 that span the DSPP gene showed that the family is linked to DSPP. All five exons and exon-intron boundaries of DSPP were sequenced in members of type II DGI family. Results Direct DNA sequence analysis identified a novel mutation (c.49C→T, p.Pro17Ser) in exon 1 of the DSPP gene. The mutation spot, the Pro17 residue, is the second amino acid of the mature DSP protein, and highly conserved during evolution. The mutation was identified in all affected individuals, but not in normal family members and 100 controls. Conclusion These results suggest that mutation p.Pro17Ser causes type II DGI in the Chinese family. This study identifies a novel mutation in the DSPP gene, and expands the spectrum of mutations that cause DGI.

Background and Aim: Long noncoding RNA TRPM2‐AS has emerged as a novel regulator in cancer initiation and progression of various cancers. However, the function and underlying mechanism of TRPM2‐AS in the progression of gastric cancer (GC) remain poorly understood. Methods: GEO and TCGA databases were used for isolation of differential lncRNA expression. TRPM2‐AS expression levels in GC tissues and cells were measured by quantitative polymerase chain reaction method. TRPM2‐AS subcellular location was detected by fluorescence in situ hybridization analysis. The functional roles of TRPM2‐AS in cells were analyzed by loss and gain function assays. Results: By using bioinformatics and quantitative polymerase chain reaction methods, TRPM2‐AS expression levels were proved to be upregulated in GSE70880 dataset, TCGA database, and 26 GC tissues, which was partly induced by SP1. The results of clinical assays showed that TRPM2‐AS could be an indicator for early‐stage GC diagnosis. Fluorescence in situ hybridization analysis showed that TRPM2‐AS was located in both nucleus and cytoplasm. Functional experiments displayed that knockdown of TRPM2‐AS inhibited proliferation, migration, and invasion in GC cells. Furthermore, depression of TRPM2‐AS suppressed cell growth though promotion of cell apoptosis. The expression levels of cleaved PARP, caspase 9, caspase 3, and Bax were significantly increased in BGC823 with TRPM2‐AS knockdown. In addition, knockdown of TRPM2‐AS reduced and phosphorylate signal transducer and activator of transcription 3 and increased and phosphorylate p38 mitogen‐activated protein kinase. Conclusions: This study demonstrated that SP1‐regulated TRPM2‐AS is involved in GC cell apoptosis probably via p38 mitogen‐activated protein kinase and signal transducer and activator of transcription 3 pathways, indicating that TRPM2‐AS might be a potential therapeutic target in GC. [ABSTRACT FROM AUTHOR]

Background: Male infertility is a major issue in human reproduction health, yet known genetic factors are only responsible for a small fraction of cases. TSGA10 is a testis‐specific protein that is highly conserved among different species. A previous study has reported a homozygous mutation in TSGA10 in a male infertile patient; however, function analysis of Tsga10 genes in knockout mice has not yet been undertaken. Objectives: The aim of the present work was to analyse the function of TSGA10 protein in the spermatogenesis of Tsga10+/− mice. Materials and methods: Tsga10+/− mice were generated by CRISPR/Cas9 technology, in vitro fertilization (IVF), western blot, co‐immunoprecipitation and other methods were used to the function analysis. Results: Heterozygous Tsga10 male mice created by CRISPR/Cas9 were infertile and presented significantly reduced sperm motility because of disordered mitochondrial sheath formation. Furthermore, TSGA10 can interact with GRP78 and NSUN2, which are associated with peri‐implantation lethality and the gonadotropin‐releasing hormone (GnRH) network. Discussion and conclusion: We demonstrate that deficiency of Tsga10 gene can lead to male infertility in mice. TSGA10 is involved in the correct arrangement of mitochondrial sheath in spermatozoa. Future studies on TSGA10 include an in‐depth exploration of the underlying mechanisms of TSGA10 in spermatogenesis, early embryonic development and GnRH network. [ABSTRACT FROM AUTHOR]

Background: X‐linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the UBE2A gene, or larger deletions of Xq24 encompassing UBE2A. Methods: We report the case of a 19‐year‐old male with UBE2A deficiency syndrome, who showed severe intellectual disability and seizures. Whole exome sequencing and Sanger sequencing were used to identify the disease‐causing mutations in this patient. Results: A novel hemizygous missense UBE2A mutation (c.TAT245TGT, p.Tyr82Cys) was identified in our patient. The heterozygous missense UBE2A mutation was identified in his mother, although not in his father or sister. Conclusions: The present study identified a novel UBE2A mutation in a patient with severe intellectual disability and seizures. Our findings expand the mutational spectrum of the UBE2A gene. [ABSTRACT FROM AUTHOR]

Purpose: To identify the disease gene in 40 patients with female infertility due to oocyte maturation arrest. Methods: Genomic DNA was extracted from peripheral blood of 40 patients and their family members. Whole-exome sequencing was performed on the patients, and the PATL2 mutations were identified and confirmed by Sanger sequencing. Harmfulness of the mutations was analyzed by SIFT, Polyphen-2, Mutation Taster, and M-CAP software, and we used western immunoblotting analysis to check the effect of mutations on PATL2 protein expression in vitro. Results: Two novel missense mutations c.1528C>A (p.Pro510Thr) and c.1376C>A (p.Ser459Tyr) in PATL2 were identified in three patients (7.5%) from two consanguineous families in our cohort. We found that mutations in PATL2 resulted in variable oocyte phenotypes, including GV arrest, MI arrest, and morphologic abnormalities. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly. Conclusions: We identified two novel PATL2 mutations that caused oocyte maturation arrest and abnormal morphology, and variable phenotypes in patients. [ABSTRACT FROM AUTHOR]

Purpose: Gastric cancer (GC) is the fifth most common tumor in the world, and most patients with GC have a poor prognosis. This study aimed to explore the biological influence and mechanism of LINC01272 in GC. Materials and Methods: Using bioinformatic analyses, we investigated the expression of LINC01272 in TCGA database and predicted the biological functions and mechanism of LINC01272 in GC. Then, we detected the expression of LINC01272 in GC cell lines, GC tissues, and corresponding normal tissues using real-time polymerase chain reaction (RT-PCR). Finally, we explored the migration and invasion ability of LINC01272 by wound-healing and Transwell assays and examined the expression of epithelial-mesenchymal transition (EMT)-related proteins through Western blotting. Results: We found that LINC01272 was upregulated in GC and was associated with GC staging and lymph node metastasis. The results of wound-healing and Transwell assays revealed that the LINC01272 was closely related to GC cell migration and invasion. LINC01272 knockdown inhibited the migration and invasion ability of GC cells by reducing the expression of EMT-related proteins. Overexpression of LINC01272 had the opposite effect. Conclusion: Together, our results showed that LINC01272 promoted GC metastasis ability by regulating the expression of EMT-related proteins and could serve as a potential diagnostic biomarker for GC. [ABSTRACT FROM AUTHOR]

Integrated analysis of accumulated data is an effective way to obtain reliable potential diagnostic molecular in gastric cancer (GC). The study aimed to identify potential lncRNAs associated with the pathogenesis and prognosis in GC. Raw noncoding RNA microarray data (GSE53137, GSE95667, and GSE111762) was downloaded from Gene Expression Omnibus (GEO) database. Differentially expressed genes between GC and adjacent normal gastric tissue samples were screened by an integrated analysis of multiple gene expression profile after gene reannotation and batch normalization. Differentially expressed genes were further confirmed by the cancer genome atlas (TCGA) database. Competing endogenous RNA (ceRNA) network, survival analysis, and gene set enrichment analysis (GSEA) were extensively applied to identify hub lncRNAs and discover potential biomarkers related to diagnosis and prognosis of GC. qPCR was applied to confirm hub lncRNA expression levels in GC tissues. In total, 17 integrated differential lncRNAs were obtained after intersections of differential genes between GEO and TCGA database. Four lncRNAs (HMGA1P4, UBE2Q1-AS1, MAGI2-AS3, MIR22HG) concentrated in ceRNA network were validated by qPCR in GC tissues, which were consistent with informatics results. The clinicopathological association revealed that four lncRNAs might be effective in GC progression. Further study revealed that GC patients with lower MAGI2-AS3 expression was evidently longer than those with higher MAGI2-AS3 expression (p = 0.015). Multivariate analysis revealed MAGI2-AS3 was independently associated with overall survival in GC. GSEA showed GC samples were differentially enriched in pyrimidine metabolism, RNA degradation, cell cycle, oxidative phosphorylation etc., and most significantly enriched in ribosome pathway in MAGI2-AS3 low expression phenotype. Four lncRNAs, including HMGA1P4, UBE2Q1-AS1, MAGI2-AS3, and MIR22HG may contribute to GC development, and MAGI2-AS3 might be associated with the prognosis of GC. [ABSTRACT FROM AUTHOR]

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a primary immunodeficiency disease (PID) characterized by variable susceptibility to weakly virulent mycobacteria (, ) and various intramacrophagic bacteria, fungi, parasites. Mycobacterial disease generally begins in childhood, more rarely during adolescence and adulthood. The pathogenesis of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or inadequate response to it. Autosomal recessive IL12RB1 deficiency is the most common genetic etiology of MSMD. Here we identified three novel compound heterozygous mutations in IL12RB1 gene (c.635G>A, c.765delG; c.632G>C, c.847C>T; c.64G>A, ) in three Chinese families with MSMD. [ABSTRACT FROM AUTHOR]

Purpose: To identify the disease-causing gene of a four-generation Chinese family with congenital cataract. Methods: To screen the disease-causing gene of the family, six disease genes of congenital cataract are screened by direct DNA sequencing, the cDNA of wild-type (WT) MIP gene, and P191R mutant MIP gene (MT) were constructed into pEGFP-C1 vector and pGH19 vector. The recombinant plasmids of pEGFP-C1, WT, and mutant MIP were transfected into Hela cell to check the localization and HEK293T cells to detect expression level of protein. The cRNA of WT and MT MIP gene were injected into Xenopus oocytes to measure the swelling rate. Results: A novel missense mutation c.572C>G（p.P191R）at exon 3 of the MIP gene was identified and co-segregated with disease in the Chinese family. The same amount of pEGFP-WT MIP and pEGFP- P191R MIP plasmids were transfected in Hela cells. Confocal microscopy imaging showed that WT MIP protein predominantly localized on the plasma membrane, the mutant protein was rich in the cytoplasm in Hela cells. Western blot results show that the expression level of P191R mutant MIP was significantly lower than WT MIPincell membrane enriched lysates in HEK293T cells. Xenopus oocytes swelling assay showed that the P191R mutation reduces the swelling rate of Xenopus oocytes. Conclusions: The novel missense mutation c.572C>G（p.P191R）at exon 3 of the MIP gene was identified in a Chinese family of congenital cataract. The mutation affects the traffic of MIP protein in the cells and reduces the expression level of MIP protein in the cell membrane. The mutation of MIP gene reduces the swelling ratio of Xenopus oocytes. [ABSTRACT FROM AUTHOR]

To lay the foundation of the classification of Canarium album ( C. album ), and C. album from Terminalia Chebula ( T. chebula ) in different areas of China, improved RAPD and ISSR analysis were performed to analyze polymorphism and genetic relationship. Ten samples were collected from different locations in China. A total of 221 fragments were detected by improved RAPD, out of which polymorphic fragments accounted for 82.3% with average amplification bands of 10.05 per primer. ISSR markers revealed a total of 147 alleles, where polymorphic fragments accounted for 83.5%, with average amplification bands of 7.35 per primer. The sizes of fragments ranged from 200 to 2500 bp and from 150 to 2000 bp in RAPD and ISSR markers, respectively. The similarity coefficient ranged from 0.46 to 0.86 with RAPD markers and 0.36 to 0.89 with ISSR markers. The results indicated that improved RAPD and ISSR methods are useful for genetic diversity study of C. album . Thus, this study provides us the theoretical basis for the breeding and classification of C. album in South and Southwest China. [ABSTRACT FROM AUTHOR]

Summary: Atrial fibrillation (AF) is the most common form of sustained clinical arrhythmia. We previously mapped an AF locus to chromosome 5p13 in an AF family with sudden death in early childhood. Here we show that the specific AF gene underlying this linkage is NUP155, which encodes a member of the nucleoporins, the components of the nuclear pore complex (NPC). We have identified a homozygous mutation, R391H, in NUP155 that cosegregates with AF, affects nuclear localization of NUP155, and reduces nuclear envelope permeability. Homozygous NUP155−/− knockout mice die before E8.5, but heterozygous NUP155+/− mice show the AF phenotype. The R391H mutation and reduction of NUP155 are associated with inhibition of both export of Hsp70 mRNA and nuclear import of Hsp70 protein. These human and mouse studies indicate that loss of NUP155 function causes AF by altering mRNA and protein transport and link the NPC to cardiovascular disease. [Copyright &y& Elsevier]

Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel a-subunit geneCACNA1Sis a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified inCACNA1Sto date. In this study, we studied a four-generation Chinese family with HypoPP with 43 living members and 19 affected individuals. Linkage analysis showed that the causative mutation in the family is linked to theCACNA1Sgene with a LOD score of 6.7. DNA sequence analysis revealed a heterozygous C to G transition at nucleotide 1,582, resulting in a novel 1,582C?G (Arg528Gly) mutation. The Arg528Gly mutation co-segregated with all affected individuals in the family, and was not present in 200 matched normal controls. The penetrance of the Arg528Gly mutation was complete in male mutation carriers, however, a reduced penetrance of 83% (10/12) was observed in female carriers. No differences were detected for age-at-onset and severity of the disease (frequency of symptomatic attacks per year) between male and female patients. Oral intake of KCl is effective in blocking the symptomatic attacks. This study identifies a novel Arg528Gly mutation in theCACNA1Sgene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease. [ABSTRACT FROM AUTHOR]

In this study, an investigation has been carried out to analyze the impact of electro-osmotic effects on the Darcy–Forchheimer flow of Casson nanofluid past a stretching sheet. The energy equation was modelled with the inclusion of electro-osmotic effects with viscous and Joule dissipations. The governing system of partial differential equations were transformed by using the suitable similarity transformations to a system of ordinary differential equations and then numerically solved by using the Runge–Kutta–Fehlberg method with a shooting scheme. The effects of various parameters of interest on dimensionless velocity and temperature distributions, as well as skin friction and heat transfer coefficient, have been adequately delineated via graphs and tables. A comparison with previous published results was performed, and good agreement was found. The results suggested that the electric and Forchheimer parameters have the tendency to enhance the fluid velocity as well as momentum boundary layer thickness. Enhancements in temperature distribution were observed for growing values of Eckert number. It was also observed that higher values of electric field parameter diminished the wall shear stress and local Nusselt number. [ABSTRACT FROM AUTHOR]