Significant Linkage Research Articles

Plasmodium falciparum genetic diversity and multiplicity of infection among asymptomatic and symptomatic malaria-infected individuals in Uganda.

Plasmodium falciparum (P. falciparum) remains a significant public health challenge globally, especially in sub-Saharan Africa (SSA), where it accounts for 99% of all malaria infections. The outcomes of P. falciparum infection vary, ranging from asymptomatic to severe, and are associated with factors such as host immunity, parasite genetic diversity, and multiplicity of infection (MOI). Using seven neutral microsatellite markers, the current study investigated P. falciparum genetic diversity and MOI in both asymptomatic and symptomatic malaria individuals in Uganda. This cross-sectional study analyzed 225 P. falciparum isolates from both asymptomatic and symptomatic malaria patients, ranging in age from 6months to ≥ 18years. P. falciparum genetic diversity, MOI, and multi-locus linkage disequilibrium (LD) were assessed through genotyping of seven neutral microsatellite markers: Poly-α, TA1, TA109, PfPK2, 2490, C2M34-313, and C3M69-383. Genetic data analysis was performed using appropriate genetic analysis software. P. falciparum infections exhibited high genetic diversity in both asymptomatic and symptomatic individuals. The mean expected heterozygosity (He) ranged from 0.79 in symptomatic uncomplicated malaria cases to 0.81 in asymptomatic individuals. There was no significant difference (p = 0.33) in MOI between individuals with asymptomatic and symptomatic infections, with the mean MOI ranging from 1.92 in symptomatic complicated cases to 2.10 in asymptomatic individuals. Polyclonal infections were prevalent, varying from 58.5% in symptomatic complicated malaria to 63% in symptomatic uncomplicated malaria cases. A significant linkage disequilibrium (LD) was observed between asymptomatic and symptomatic uncomplicated/complicated infections (p < 0.01). Genetic differentiation was low, with FST values ranging from 0.0034 to 0.0105 among P. falciparum parasite populations in asymptomatic and symptomatic uncomplicated/complicated infections. There is a high level of P. falciparum genetic diversity and MOI among both symptomatic and asymptomatic individuals in Uganda. Asymptomatic carriers harbor a diverse range of parasites, which poses challenges for malaria control and necessitates targeted interventions to develop effective strategies.

AN EMPIRICAL ANALYSIS OF THE LEADER-MEMBER EXCHANGE AND QUITTING INTENTION MEDIATED BY JOB SATISFACTION AND ORGANIZATIONAL COMMITMENT: EVIDENCE FROM SELF-FINANCED PUBLIC UNIVERSITIES

This study investigates the effect of leader-member exchange on quitting intention as mediated by job satisfaction and organizational commitment in Vietnamese self-financed public universities. A questionnaire survey based on theory was conducted to obtain data from lecturers at eight self-financed public universities. The data were analyzed with a structural equation model. The model analysis demonstrated a significant linkage between leader-member exchange and quitting intention as mediated by job satisfaction and organizational commitment. Job satisfaction was found to be a significant predictor of high organizational commitment. Thus, the structural equation model results help clarify the mixed findings in the literature on the relationship between leader-member exchange and quitting intention.

K-mean cluster analysis of the use of prepositional phrases for location, writing, reading, and understanding words presented in a three-dimensional, puzzled, and distorted form

The primary objective of this study is to examine the statistically homogeneous clustering in the hierarchical arrangement of the use of adverbial clauses for location, recognition, and comprehension of words presented in three-dimensional, rebus, and distorted forms. The study was conducted on a sample of 140 participants. The first subset of participants constituted the experimental group, consisting of 70 deaf students, while the second subset formed the control group, comprising 70 hearing students of the same chronological age. A battery of tests was utilized as a measurement instrument, including the “Test of Writing and Comprehending Adverbial Clauses for Location,” “Test of Reading, Writing, and Comprehending Words Presented in Three-Dimensional Form,” “Test of Reading, Writing, and Comprehending Words Presented in Rebus Form,” and “Test of Reading, Writing, and Comprehending Words Presented in Distorted Form.” In the descriptive analysis, frequencies of the total words achieved by both deaf and hearing participants were computed for the different types of measurement instruments employed. To identify the most robust homogeneity of participants concerning the applied variables, non-hierarchical and hierarchical Cluster Analyses were employed. The research results indicate a significant lag in the use of adverbial clauses for location, writing, reading, and understanding words presented in three-dimensional, rebus, and distorted forms among deaf children in comparison to their hearing peers. The Cluster Analysis revealed the most significant linkage between the variable “Number of used adverbial clauses for location” and the variable “Number of recognized words presented in three-dimensional form.” This link was clustered with the variable “Number of written words presented in rebus form” and the variable “Number of written words presented in three-dimensional form.” An analysis of variance for isolated clusters identified a statistically significant difference in the entire measurement space of adverbial clauses for location, three-dimensional, rebus, and distorted forms of words, with a level of statistical significance at p=0.00.

Investigating the causal association between serum uric acid levels and gastric cancer risk: a Mendelian randomization study

The causal link between serum uric acid (SUA) levels and gastric cancer susceptibility remains inadequately elucidated. This investigation employed a two-sample Mendelian randomization (MR) framework to assess the potential causative link between SUA concentrations and the propensity for developing gastric cancer. To further explore potential racial differences, this MR analysis was conducted on cohorts of both European and East Asian descent. Data from a large-scale GWAS in 343,836 Europeans and 92,615 East Asians were screened for 206 and 45 SNPs significantly linked to SUA levels, respectively, as genetic variants. Subsequently, four distinct MR methodologies were deployed to determine how SUA levels affected gastric cancer risk. Using the fixed-effects IVW approach, our analysis revealed no significant association between SUA levels and gastric cancer risk, with P-values exceeding the threshold of significance in both populations (European P = 0.778; East Asian P = 0.245). The findings were supported by three additional MR methods. The reliability of these results was substantiated by comprehensive sensitivity analyses. In summary, our data do not support a significant causal linkage between SUA levels and gastric cancer risk.

Diversity of the Chicken Growth Hormone Gene and Effects on Growth Desi and Fayoumi Chicken Traits at District Kashmore, Sindh-Pakistan

Chicken growth hormone (cGH) gene, one of the candidate genes for economic traits that control body weight and fat deposition, is associated with regulating both growth-axon patterning and metabolism. The growth hormone gene located on the chromosome 2 it enhances and encodes growth hormones as well as protein which are responsible for regulating of growth and development of body tissues. Growth hormone gene as economically very important because of growth rate, efficiency of feeds, body weight, and also for egg production. It also used for the Genetic Engineering for production of desirable GH- related genes. Genomic DNA from four different chicken breeds were screened for single nucleotide polymorphisms (SNPs) of cGH gene by denaturing high-performance liquid chromatography, as well as sequencing. SNPs and Nucleotide Diversity of the cGH Gene PCR amplification of 700 bp region from each individual from two chicken breeds was performed, which covered partial exons/introns encoding fragments corresponding to the investigated translated peptide. An average of one SNP was found every 86 bp, with a total of eight SNPs discovered. Nine SNPs were in introns, while 4 and one each was in the 5&amp;apos;UTR and 3&amp;apos;UTR respectively of these, five of them (01 from GWAS linkage signals) had significant associations.

Genetic Diversity and Forensic Utility of X-STR Loci in Punjabi and Kashmiri Populations: Insights into Population Structure and Ancestry

Background: X-chromosomal short tandem repeats (X-STRs) are crucial in forensic applications, particularly in complex kinship cases, and play an important role in population genetics. However, there is limited data on X-STR variation in Pakistani populations, especially among ethnic groups like Kashmiri and Punjabi. Methodology: This study investigates the forensic and genetic properties of 12 X-STRs from the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany) in 125 families (75 Kashmiri, 50 Punjabi) from Azad Jammu and Kashmir and Punjab, Pakistan. Results: In both populations, a total of 222 alleles were identified across the 12 X-STR loci (Punjabi 171 alleles, Kashmiri 161 alleles), with allele frequencies ranging from 0.0056 to 0.3033. DXS10148 was the most polymorphic locus with 28 alleles, while DXS7132 was the least polymorphic with 9 alleles. Most loci were in linkage equilibrium, except for the DXS10135/DXS10148 pair in males, with no loci exhibiting significant linkage disequilibrium in females. The combined power of discrimination was 0.999 999 9977 for Kashmiri males, 0.999 999 999 999 9746 for Kashmiri females, and 0.999 999 999 999 9781 for Punjabi females. In Kashmiri males, 34, 31, 28, and 32 haplotypes were observed across the four linkage groups (LG1, LG2, LG3, and LG4), though these groups did not form stable haplotypes, as indicated by Linkage Equilibrium within and significant Linkage Disequilibrium between groups. Conclusions: Genetic structure analysis using Principal Component Analysis and STRUCTURE revealed distinct clustering patterns for the Kashmiri and Punjabi populations, indicating unique genetic backgrounds and ancestry influences, particularly distinguishing them from East Asian populations. This study provides a comprehensive analysis of X-STR variation in Punjabi and Kashmiri populations, offering valuable insights for forensic and population genetic studies.

Genetic architecture reconciles linkage and association studies of complex traits.

Linkage studies have successfully mapped loci underlying monogenic disorders, but mostly failed when applied to common diseases. Conversely, genome-wide association studies (GWASs) have identified replicable associations between thousands of SNPs and complex traits, yet capture less than half of the total heritability. In the present study we reconcile these two approaches by showing that linkage signals of height and body mass index (BMI) from 119,000 sibling pairs colocalize with GWAS-identified loci. Concordant with polygenicity, we observed the following: a genome-wide inflation of linkage test statistics; that GWAS results predict linkage signals; and that adjusting phenotypes for polygenic scores reduces linkage signals. Finally, we developed a method using recombination rate-stratified, identity-by-descent sharing between siblings to unbiasedly estimate heritability of height (0.76 ± 0.05) and BMI (0.55 ± 0.07). Our results imply that substantial heritability remains unaccounted for by GWAS-identified loci and this residual genetic variation is polygenic and enriched near these loci.

Distributions of MICA and MICB Alleles Typed by Amplicon-Based Next-Generation Sequencing in South Koreans.

Major histocompatibility complex class I chain-related genes A and B (MICA and MICB) play a role as ligands in activating the NKG2D receptor expressed in natural killer cells, γδ T-cells and αβ CD8 T-cells and have been defined in human diseases and haematopoietic stem cell transplantation (HSCT). MICA and MICB alleles were genotyped at the three-field level by amplicon-based next-generation sequencing (NGS) using a MiSeqDx system and compared with the results from previous studies in healthy South Korean donors. Exons 2-5 of MICA and exons 2-4 of MICB were amplified using a multiplex polymerase chain reaction (PCR). Sequence reads of ≥ 51 depth counts were consistently obtained for each sample exon, and target exons were determined to match reference sequences contained in the IPD-IMGT/HLA database. MICA and MICB alleles were tested using exon combinations. The program was designed to recognise specific sequences and discriminate between the MICA*008:01:01/*027 alleles. A total of 22 alleles were found in MICA and MICB. We observed 1 HLA-C ~ HLA-B ~ MICA ~ MICB ~ HLA-DRB1 haplotype with significant linkage disequilibrium between alleles at all neighbouring HLA loci. These results are consistent with previous microarray results. Genotyping of MICA and MICB was possible using 11-loci HLA genes. We updated the distribution of MICA and MICB based on three-field allele and haplotype frequencies containing linkage disequilibrium in South Koreans using amplicon-based NGS. These data suggest that high-resolution MICA and MICB typing data obtained using NGS may aid in performing HSCT and disease association studies.

Genome-wide association analysis of grain yield and Striga hermonthica and S. asiatica resistance in tropical and sub-tropical maize populations

BackgroundGenetic improvement for Striga hermonthica (Sh) and S. asiatica (Sa) resistance is the most economical and effective control method to enhance the productivity of maize and other major cereal crops. Hence, identification of quantitative trait loci (QTL) associated with Striga resistance and economic traits will guide the pace and precision of resistance breeding in maize. The objective of this study was to undertake a genome-wide association analysis of grain yield and Sh and Sa resistance among tropical and sub-tropical maize populations to identify putative genetic markers and genes for resistance breeding. 126 maize genotypes were evaluated under controlled environment conditions using artificial infestation of Sh and Sa. The test genotypes were profiled for grain yield (GY), Striga emergence counts at 8 (SEC8) and 10 (SEC10) weeks after planting, and Striga damage rate scores at 8 (SDR8) and 10 (SDR10) weeks after planting. Population structure analysis and genome-wide association mapping were undertaken based on 16,000 single nucleotide polymorphism (SNP) markers.ResultsA linkage disequilibrium (LD) analysis in 798,675 marker pairs revealed that 21.52% of pairs were in significant linkage (P < 0.001). Across the chromosomes, the LD between SNPs decayed below a critical level (r2 = 0.1) at a map distance of 0.19 Mbp. The genome-wide association study identified 50 significant loci associated with Sh resistance and 22 significant loci linked to Sa resistance, corresponding to 39 and 19 candidate genes, respectively.ConclusionThe study found non-significant QTL associated with dual resistance to the two examined Striga species Some of the detected genes reportedly conditioned insect and pathogen resistance, plant cell development, variable senescence, and pollen fertility. The markers detected in the present study for Sa resistance were reported for the first time. The gene Zm00001eb219710 was pleiotropic, and conditioned GY and SEC10, while Zm00001eb165170 affected SDR8 and SDR10, and Zm00001eb112030 conditioned SDR8 and SDR10 associated with Sh resistance. The candidate genes may facilitate simultaneous selection for Sh and Sa resistance and grain yield in maize after further validation and introgression in breeding pipelines. Overall, we recommend breeding maize specifically for resistance to each Striga species using germplasm adapted to the endemic region of each parasite.

Impact of Financial Inclusion and ESG on the Sustainable Growth of the Nation: Moderating Role of Poverty

The literature has a strong foundation for the contributions that financial inclusion (FI) and environment social governance (ESG) provide to the sustainable growth (SG) of the nation. This study looks at the relationships between FI and ESG with SG through moderating role of poverty in the nation. The study performs a quantitative analysis by utilizing the panel data regression model on 140 countries with a time period of nine years, that is 2011–2019. In this study, models have been tested for consistency with FE (fixed effect) or RE (random effect). In it, ATMs are used as a proxy of FI, DW_EG is a proxy of statistical performance indicators (SPI), Agr_Land are used as a proxy of Environment Social and Governance (ESG) and Pov_surv are used as a proxy of poverty. GDP_grw are used as a proxy of GDP growth (GDP per capita growth) and RP are used as a proxy of rural population. This study establishes three models, that is, Models 1, 2 and 3. The empirical findings demonstrate a significant linkage between ESG, FI and SG, whereas poverty is found insignificant. Further research confirms that the development of careful co-curation of ICT infrastructure, FI programmes and economic growth strategies is necessary to promote nation’s SG.

Assessing carbon capture and storage technology in industrial joint venture

Carbon Capture and Storage (CCS) technology can effectively reduce carbon dioxide emissions from industrial and energy production processes. Yet the commercialization of CCS technology is hampered by financial requirements. Existing research compares the costs and benefits of business models for individual CCS projects, no studies assess the industry and national levels. Here we use a dynamic computable general equilibrium model, constructure the vertical integration and joint venture business models for CCS. This study assesses the emission and economic impacts of joint ventures between China's high-emission industries and their upstream and downstream sectors. We find that adopting the joint venture model in the coal power sector, compared to the vertical integration model, initially exerts a negative economic impact but can mitigate 0.04 % of GDP by 2060. The chemical industry consistently benefits from the joint venture model both economically and in emission reductions. Downstream sectors of the steel and cement industries are unsuitable for participation in joint ventures. In addition, the joint venture model has significant industry linkage effects, affecting energy consumption, the scale and cost of CCS deployment. This work provides important information for the large-scale commercialization of CCS technology.

Operational efficiency, agency costs and the mediating role of payout policy

ABSTRACT The association between a firm’s operational efficiency and its payout policy has received little attention in literature despite their common linkage to agency costs. Our findings suggest a significant linkage between the three. First, operationally efficient firms are associated with significantly higher agency conflicts of free cash flows. Second, operationally efficient firms exhibit a significantly greater propensity to pay dividends, thereby substantially reducing the associated agency costs compared to their non-dividend paying counterparts. This mediating role of dividends remains robust when considering different measures of operational efficiency and in a matched data. Using Data Envelopment Analysis (DEA) to obtain operational efficiency and Nearest Neighbour Matching (NMM) to get a matched sample, the findings imply that a firm’s operational and managerial decisions are interconnected in managing agency problems stemming from free cash flows.

The cooperative effects of November Arctic sea ice and Eurasian snow cover on the Eurasian surface air temperature in January–February

AbstractDue to their significant influence on large‐scale atmospheric circulation and climate anomalies, the variability of Arctic sea ice and Eurasian snow cover during late autumn and their combined effects have garnered increasing attention. This study aims to investigate the physical mechanism underlying the covariation among the Barents‐Kara Seas (BKS) sea ice concentration (SIC), Eurasian snow cover extent (SCE) and the ensuing winter Eurasian surface air temperature (SAT). The statistics results of singular value decomposition suggest a significant linkage between the decreased BKS SIC, zonal “negative–positive” dipole SCE anomalies over Eurasia in November and cold Eurasian SAT in January–February (JF). Observational diagnosis analyses about the meridional moisture, heat transport and surface heat flux demonstrate that subpolar Eurasian anticyclonic circulation plays a crucial role in connecting the predominant modes of SIC and SCE. Furthermore, the BKS SIC and Eurasian SCE anomalies can jointly excite upward‐propagating planetary waves into the stratosphere, while simultaneously reducing the subpolar meridional temperature gradient. This results in westerly wind deceleration and favours the continuous planetary wave propagation. Consequently, the stratospheric polar vortex is significantly weakened, along with negative Northern Annular Mode anomalies propagating downward from the stratosphere to troposphere. Negative‐phase Arctic Oscillation anomalies correspondingly develop during JF, resulting in widespread cold anomalies over the Eurasian continent. These results are further confirmed by numerical sensitivity experiments from the Community Atmosphere Model forced by the above mentioned SIC and SCE anomalies. The empirical hindcast model analyses further suggest that the prediction skill of JF Eurasian SAT is enhanced when both the November BKS SIC and Eurasian SCE signals are considered.

Association between 5-HT1A receptor C-1019G, 5-HTTLPR polymorphisms and panic disorder: a meta-analysis.

HTR1A C-1019G polymorphism (rs6295) and serotonin transporter promoter polymorphism (5-HTTLPR) have been linked with panic disorder (PD) in different ethnic backgrounds. Both these polymorphisms are in the promoter regions. However, results are inconsistent and contrasting evidence makes reliable conclusions even more challenging. A meta-analysis was conducted to test whether C-1019G polymorphism and 5-HTTLPR were involved in the etiology of PD. Articles researching the link between C-1019G, 5-HTTLPR polymorphisms, and PD were retrieved by database searching and systematically selected on the basis of selected inclusion parameters. 21 studies were included that examined the relationship of rs6295,5-HTTLPR polymorphisms with PD risk susceptibility (rs62957 polymorphism - 7 articles, and 5-HTTLPR polymorphism - 14 articles). A significant association was seen between the rs6295 polymorphism and PD pathogenesis, especially in Caucasian PD patients. No significant genetic linkage was found between the 5-HTTLPR polymorphism and PD. C-1019G polymorphism was involved in the etiology of PD in Caucasian patients. The 5-HTTLPR polymorphism was not a susceptibility factor of PD.

Distribution of CYP3A4 and CYP3A5 Polymorphisms and Genotype Combination Implicated in Tacrolimus Metabolism.

Human cytochrome P450 (CYP), particularly CYP3A4 and CYP3A5 is mainly responsible for the metabolism of several drugs including tacrolimus. Significant interracial/interethnic variation in the expression and function of CYP3A5 and CYP3A4 is caused by Single Nucleotide Polymorphisms (SNPs) of genes encoding these proteins. The present study investigated the genetic polymorphisms CYP3A4*1B, CYP3A4*22, and CYP3A5*3 in the Tunisian population. We included in this study, Tunisian healthy subjects and renal transplant recipients receiving tacrolimus. CYP3A4 and CYP3A5 genotyping were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). According to the genotypic combination of the three CYP polymorphisms, we have identified for the first time four metabolizers statuses: slow metabolizers (SM), intermediate metabolizers (IM), high metabolizers (HM), and extensive metabolizers (EM). A total of 101 renal transplant patients and 102 healthy subjects were included. Our results showed that the predominant alleles in the Tunisian population are a wild type of CYP3A4*1B (0.87), likewise CYP3A4*22 (0.975) and CYP3A5*3 (0.82). The genotype frequencies of CYP3A4*1B, CYP3A4*22, and CYP3A5*3 were found to be 3.9%, 0.0%, and 69.5%, respectively. Also, we found a significant linkage disequilibrium between CYP3A4*1B and CYP3A5*3. We approved that the IM is the predominant phenotype in our population with 124 patients followed by and EM with 41 patients, HM in 29 patients and SM in 9 patients. These results showed that Tunisians are most similar to Caucasians. The genetic background of these enzymes CYP3A4*1B, CYP3A4*22, and CYP3A5*3 in this study are important in the prescription of personalized medicine.

The complete mitochondrial genome and microsatellite discovery of the Chilean kelp crab Taliepus dentatus (Brachuyra, Majoidea)

Abstract The complete sequence of the mitochondrial genome and fifteen microsatellite loci for the Chilean kelp crab Taliepus dentatus are reported for the first time. The DNA assembly obtained from an Illumina sequencing revealed a complete mitochondrial genome of 15 603 bp in length. The gene composition and arrangement were similar to that reported for most decapod crabs, containing 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes and a non-coding region. A phylogeny performed with 10 species obtained from GenBank placed T. dentatus close to individuals of the Family Epialtidae. From the 6397 repeated sequences encountered in the data, 15 microsatellite loci primers were designed and five tested for variability in specimens obtained from two sampling sites separated by 300 km of distance. The mean number of alleles per locus was nine (5–15 alleles per locus) and the observed heterozygosities ranged from 0.34 to 0.8. Departure from Hardy–Weinberg equilibrium was observed in two out of the five microsatellites, while none of the loci exhibited significant linkage disequilibrium. This genetic resource will be useful for phylogeny, population genetics and parentage analysis of the commercial species T. dentatus.

Etiology, risk factors and antibiotic resistance in neonatal sepsis.

Objective: To determine the etiology, risk factors and antibiotic resistance in neonatal sepsis. Study Design: Cross-sectional study. Setting: Department of Pediatric Medicine, National Institute of Child Health, Karachi, Pakistan. Period: October 2023 to March 2024. Methods: A total of 174 neonates of both genders, with suspected neonatal sepsis were analyzed. Neonatal and maternal characteristics were noted. Blood sample was collected in aseptic environment and sent to institutional laboratory for blood culture and drug susceptibility testing. Results: In a total of 174 neonates, 101 (58.0%) were boys. The mean age, and weight were 9.61±7.86 years, and 2.25±0.85 kg, respectively. Neonatal sepsis on the basis of positive blood culture was reported in 38 (21.8%) neonates. Preterm birth had significant association with neonatal sepsis (44.7% vs. 26.5%, p=0.019). History of maternal UTI during pregnancy had significant linkage with neonatal sepsis (36.8% vs. 11.0%, p&lt;0.001). History of maternal fever during pregnancy had statistically significant association with neonatal sepsis (34.2% vs/ 19.1%, p=0.049). E. Coli, and Klebsiella were the most commonly found bacterial isolates, noted in 8 (21.1%), and 4 (10.5%) neonates, respectively. Most commonly used antimicrobial drugs were found to have high resistance rates against most frequent bacterial isolates. Conclusion: E. Coli, and Klebsiella were the most commonly found bacterial isolates in neonatal sepsis. Preterm birth, maternal history of UTI, and maternal history of fever were found to be significant factors linked to neonatal sepsis. Most commonly used antimicrobial drugs were found to have high resistance patterns which should raise alarms.

Extensive genetic diversity in Plasmodium vivax from Sudan and its genetic relationships with other geographical isolates

Plasmodium vivax, traditionally overlooked has experienced a notable increase in cases in East Africa. This study investigated the geographical origin and genetic diversity of P. vivax in Sudan using 14 microsatellite markers. A total of 113 clinical P. vivax samples were collected from two different ecogeographical zones, New Halfa and Khartoum, in Sudan. Additionally, 841 geographical samples from the database were incorporated for a global genetic analysis to discern genetic relationships among P. vivax isolates on regional and worldwide scales. On the regional scale, our findings revealed 91 unique and 8 shared haplotypes among the Sudan samples, showcasing a remarkable genetic diversity compared to other geographical isolates and supporting the hypothesis that P. vivax originated from Africa. On a global scale, distinct genetic clustering of P. vivax isolates from Africa, South America, and Asia (including Papua New Guinea and Solomon Island) was observed, with limited admixture among the three clusters. Principal component analysis emphasized the substantial contribution of African isolates to the observed global genetic variation. The Sudanese populations displayed extensive genetic diversity, marked by significant multi-locus linkage disequilibrium, suggesting an ancestral source of P. vivax variation globally and frequent recombination among the isolates. Notably, the East African P. vivax exhibited similarity with some Asian isolates, indicating potential recent introductions. Overall, our results underscore the effectiveness of utilizing microsatellite markers for implementing robust control measures, given their ability to capture extensive genetic diversity and linkage disequilibrium patterns.

HINT1 Gene Polymorphisms, Smoking Behaviour, and Personality Traits: A Haplotype Case-Control Study.

The factors influencing the development and maintenance of nicotine dependence are numerous and complex. Recent studies indicate that smokers exhibit distinct genetic predispositions to nicotine dependence. We aimed to analyse (1) the association between rs2551038 and cigarette smoking, (2) the association of between the rs3864236-rs2526303-rs2551038 haplotype and cigarette smoking, and (3) the personality traits measured by the NEO Five-Factor Inventory in cigarette users and never-smokers. No significant differences were present in the frequency of rs2551038 genotypes and alleles in the studied cigarette users compared to the control group. Cigarette users, compared to the control group, had higher scores on the NEO-FFI Extraversion scale (p = 0.0011), and lower scores were obtained by the cigarette users for the NEO-FFI Openness (p = 0.0060), Agreeability (p ≤ 0.000), and Conscientiousness (p ≤ 0.000) scales. There was a significant positive Pearson's linear correlation between the age and the Fagestrom test (r = 0.346; p < 0.0001) and the NEO-FFI Openness scale (r = 0.180; p < 0.0001) in the group of cigarette users. We observed significant linkage disequilibrium between rs2526303 and rs3864236 (D' = 0.3581; p < 2.2204 × 10-16) and between rs2526303 and rs2551038 (D' = 0.9993; p < 2.2204 × 10-16) in the tested sample. The sex-stratified haplotype analysis revealed that in the group of male never-smokers, the GTC haplotype was significantly more frequent than in the group of cigarette users (38% vs. 22%; p = 0.0039). The presented study reveals significant differences in personality trait scores between cases and controls. Moreover, the sex-stratified analysis showed significant differences in haplotype distribution. These results underscore the interplay between genetic predisposition, sex, and personality in nicotine-using individuals.

"Filler-Associated Acute Stroke Syndrome": Classification, Predictive Modelling of Hyaluronidase Efficacy, and Updated Case Review on Neurological and Visual Complications.

The rising use of soft tissue fillers for aesthetic procedures has seen an increase in complications, including vascular occlusions and neurological symptoms that resemble stroke. This study synthesizes information on central nervous system (CNS) complications post-filler injections and evaluates the effectiveness of hyaluronidase (HYAL) treatment. A thorough search of multiple databases, including PubMed, EMBASE, Scopus, Web of Science, Google Scholar, and Cochrane, focused on publications from January 2014 to January 2024. Criteria for inclusion covered reviews and case reports that documented CNS complications related to soft tissue fillers. Advanced statistical and computational techniques, including logistic regression, machine learning, and Bayesian analysis, were utilized to dissect the factors influencing therapeutic outcomes. The analysis integrated findings from 20 reviews and systematic analyses, with 379 cases reported since 2018. Hyaluronic acid (HA) was the most commonly used filler, particularly in nasal region injections. The average age of patients was 38, with a notable increase in case reports in 2020. Initial presentation data revealed that 60.9% of patients experienced no light perception, while ptosis and ophthalmoplegia were present in 54.3 and 42.7% of cases, respectively. The statistical and machine learning analyses did not establish a significant linkage between the HYAL dosage and patient recovery; however, the injection site emerged as a critical determinant. The study concludes that HYAL treatment, while vital for managing complications, varies in effectiveness based on the injection site and the timing of administration. The non-Newtonian characteristics of HA fillers may also affect the incidence of complications. The findings advocate for tailored treatment strategies incorporating individual patient variables, emphasizing prompt and precise intervention to mitigate the adverse effects of soft tissue fillers. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .