Association

Objective:To determine the association of demographic profiles and clinical characteristics of patients with aural foreign bodies seen at the Emergency Room (ER) of the East Avenue Medical Center with clinical outcomes

Methods:
Design:Cross-Sectional Study
Setting:Tertiary Government Training Hospital
Participants:A total of 143 aural foreign body cases seen at the ER from January to December 2022 under the Department of Otorhinolaryngology – Head and Neck Surgery (ORL-HNS) of East Avenue Medical Center were included in the study.

Results: Of the 143 patients, majority (84; 58.74%) were males. Mean age was 21.92 years old with two peak incidences noted at ages 1-12 years old and 18-65 years old. Most of the patients were right-handed (134; 93.71%). Majority of the foreign bodies were animate (76; 53.15%) and were frequently found to be lodged on the right ear (86; 60.14%) with duration from lodgment to
extraction commonly within less than 24 hours (119; 83.22%). One hundred forty two (99.30%) patients had successful foreign body extraction, 60 (41.96%) had complications, specifically involving the external auditory canal (51; 35.66%) and tympanic membrane (6; 4.20%). Significant associations were found between age and type of foreign body [χ2 (3, N =143) = 31.24, p < .01] with a higher proportion of animate foreign bodies in adults and inanimate foreign bodies in children; sex and presence of complications [χ²(1, N = 143) = 5.41, p < .05] with males experiencing more complications than females; type and duration of foreign body [, χ²(2, N = 143) = 16.33, p < .01] with animate foreign bodies generally having a shorter duration of less than 24 hours compared to inanimate foreign bodies; and the duration of foreign body and presence of TM complications [χ²(4, N = 143) = 14.21, p < .01] with shorter durations (less than 24 hours) showing fewer TM complications. Males had higher odds of developing complications compared to females (OR = 2.315, 95% CI [1.105, 4.851])

Eggplant is an important horticultural crop and one of the most widely grown vegetables in the Solanaceae family. Eggplant fruit-related agronomic traits are complex quantitative traits with low efficiency and long cycle time for traditional breeding selection. With the rapid development of high-throughput sequencing technology and bioinformatics tools, genome-wide association study (GWAS) has shown great application potential in analyzing the genetic rules of complex agronomic traits related to eggplant fruits. This paper first reviews the progress of genome-wide association analysis in eggplant fruit shape, fruit color and other fruit-related agronomic traits. Subsequently, aiming at the problem of missing heritability, which is common in the genetic studies of eggplant quantitative traits, this paper puts forward the development strategies of eggplant GWAS in the future based on the hot spots of application of four GWAS strategies in the research of agronomics traits related to eggplant fruits. Lastly, the application of GWAS strategy in the field of eggplant molecular breeding is expected to provide a theoretical basis and reference for the future use of GWAS to analyze the genetic basis of various eggplant fruit-related traits and to select fruit materials that meet consumer needs.
Solanum melongena/genetics* ; Fruit/genetics* ; Genome-Wide Association Study ; Plant Breeding ; Agriculture ; Vegetables

Excavating the quantitative trait locus (QTL) associated with rice cooking quality, analyzing candidate genes, and improving cooking quality-associated traits of rice varieties by genetic breeding can effectively improve the taste of rice. In this study, we used the indica rice HZ, the japonica rice Nekken2 and 120 recombinant inbred lines (RILs) populations constructed from them as experimental materials to measure the gelatinization temperature (GT), gel consistency (GC) and amylose content (AC) of rice at the maturity stage. We combined the high-density genetic map for QTL mapping. A total of 26 QTLs associated with rice cooking quality (1 QTL associated with GT, 13 QTLs associated with GC, and 12 QTLs associated with AC) were detected, among which the highest likelihood of odd (LOD) value reached 30.24. The expression levels of candidate genes in the localization interval were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and it was found that the expression levels of six genes were significantly different from that in parents. It was speculated that the high expression of LOC_Os04g20270 and LOC_Os11g40100 may greatly increase the GC of rice, while the high expression of LOC_Os01g04920 and LOC_Os02g17500 and the low expression of LOC_Os03g02650 and LOC_Os05g25840 may reduce the AC. The results lay a molecular foundation for the cultivation of new high-quality rice varieties, and provide important genetic resources for revealing the molecular regulation mechanism of rice cooking quality.
Quantitative Trait Loci ; Oryza/genetics* ; Plant Breeding ; Cooking ; Genetic Association Studies

Although melanoma only accounts for 1% of skin cancers, it is responsible for most skin cancer deaths. Glioblastoma multiforme, a high-grade astrocytoma, is the most aggressive and devastating primary brain tumor. These two diseases remain to be the biggest therapeutic challenge in both specialties of dermatology and neuro-oncology. A 53-year-old Filipino male who presented with a 2-year history of generalized dark brown and black patches on the body developed weakness and numbness of the left extremities. Biopsy and immunohistochemical staining of the skin revealed nodular melanoma with adjacent regressing melanoma. Biopsy of the intracranial mass showed glioblastoma multiforme. One month after the partial excision of the intracranial mass, the patient expired due to brain herniation. Nodular melanoma and glioblastoma multiforme may occur concomitantly in a patient. A review of the literature suggests a shared genetic predisposition. Its existence carries a poor prognosis and requires early detection to start aggressive treatment.
Melanoma ; Glioma ; Glioblastoma ; Association

Introduction: In the realm of education and professional licensure, the assessment of individuals’ competencies is pivotal in determining eligibility for entry into various fields of practice. Medical school assessments encompass cognitive and non-cognitive measures. The Philippines’ Physician Licensure Examination (PLE) relies solely on cognitive assessment. This study explored the predictive power of cognitive assessment in the passing the Physician Licensure Examinations. Methods: A case-control study design was done. Cognitive examination grade was defined as the average cumulative grade of written examinations in specific subjects, while the dependent variable was PLE scores. Results: The study revealed a positive association between failing written examinations and failing the Physician Licensure Examination. In all subjects, there is an observed association, but only Pharmacology reached statistical significance (OR: 2.30 CI:1.01,5.24). For the remaining subjects, although there is an association, it did not reach statistical significance (Biochemistry OR:1.42, CI: 0.43, 4.72; Medicine 3 OR:1.56, CI: 0.81, 3.0; Surgery 3 OR:1.28 CI: 0.63, 2.58). There was no association seen between failing the written examination and failing the PLE in Obstetrics (OR:0.98 CI: 0.47, 2.03). Furthermore, there was a weak positive correlation (0.18-0.31) between written examination grades and corresponding board exam subject grades for all subjects, highlighting the importance of cognitive assessments in predicting success. The research also found a statistically significant difference in PLE grades between those who failed the written examinations and those who passed. Conclusion These findings emphasized the crucial role of cognitive assessments in predicting success in the PLE and its associated board subjects. The study underscored the need for medical institutions to focus on strengthening cognitive competencies and to align the content and rigor of written examinations with the PLE. Addressing these issues would better prepare students for the licensure examination and enhance the quality of healthcare professionals entering the workforce. The results may contribute to the ongoing discussion on the effectiveness of assessment methods in medical education and licensure examinations.
Association

BACKGROUND: Observational research has reported that systemic lupus erythematosus (SLE) is related to common female hormone-dependent cancers, but the underlying causal effect remains undefined. This study aimed to explore the causal association of these conditions by Mendelian randomization (MR) analysis. METHODS: We selected instrumental variables for SLE from genome-wide association studies (GWASs) conducted in European and East Asian populations. The genetic variants for female malignant neoplasms were obtained from corresponding ancestry GWASs. We utilized inverse variance weighted (IVW) as the primary analysis, followed by sensitivity analysis. Furthermore, we conducted multivariable MR (MVMR) to estimate direct effects by adjusting for the body mass index and estradiol. Finally, we implemented reverse direction MR analysis and gave a negative example to test the reliability of MR results. RESULTS: We found SLE was significantly negatively associated with overall endometrial cancer risk (odds ratio [OR] = 0.961, 95% confidence interval [CI] = 0.935-0.987, P  = 3.57E-03) and moderately inversely related to endometrioid endometrial cancer (ENEC) (OR = 0.965, 95% CI = 0.936-0.995, P  = 0.024) risk in the European population by IVW. We replicated these results using other MR models and detected a direct effect by MVMR (overall endometrial cancer, OR = 0.962, 95% CI = 0.941-0.983, P  = 5.11E-04; ENEC, OR = 0.964, 95% CI = 0.940-0.989, P  = 0.005). Moreover, we revealed that SLE was correlated with decreased breast cancer risk (OR = 0.951, 95% CI = 0.918-0.986, P  = 0.006) in the East Asian population by IVW, and the effect was still significant in MVMR (OR = 0.934, 95% CI = 0.859-0.976, P  = 0.002). The statistical powers of positive MR results were all >0.9. CONCLUSION This finding suggests a possible causal effect of SLE on the risk of overall endometrial cancer and breast cancer in European and East Asian populations, respectively, by MR analysis, which compensates for inherent limitations of observational research.
Female ; Humans ; Genome-Wide Association Study ; Mendelian Randomization Analysis ; Neoplasms, Hormone-Dependent ; Reproducibility of Results ; Endometrial Neoplasms ; Lupus Erythematosus, Systemic/genetics* ; Carcinoma, Endometrioid ; Breast Neoplasms ; Polymorphism, Single Nucleotide

Humans ; Cockayne Syndrome/genetics* ; Genetic Association Studies ; Phenotype

BACKGROUND: Several studies have reported that polygenic risk scores (PRSs) can enhance risk prediction of coronary artery disease (CAD) in European populations. However, research on this topic is far from sufficient in non-European countries, including China. We aimed to evaluate the potential of PRS for predicting CAD for primary prevention in the Chinese population. METHODS: Participants with genome-wide genotypic data from the China Kadoorie Biobank were divided into training ( n = 28,490) and testing sets ( n = 72,150). Ten previously developed PRSs were evaluated, and new ones were developed using clumping and thresholding or LDpred method. The PRS showing the strongest association with CAD in the training set was selected to further evaluate its effects on improving the traditional CAD risk-prediction model in the testing set. Genetic risk was computed by summing the product of the weights and allele dosages across genome-wide single-nucleotide polymorphisms. Prediction of the 10-year first CAD events was assessed using hazard ratios (HRs) and measures of model discrimination, calibration, and net reclassification improvement (NRI). Hard CAD (nonfatal I21-I23 and fatal I20-I25) and soft CAD (all fatal or nonfatal I20-I25) were analyzed separately. RESULTS: In the testing set, 1214 hard and 7201 soft CAD cases were documented during a mean follow-up of 11.2 years. The HR per standard deviation of the optimal PRS was 1.26 (95% CI:1.19-1.33) for hard CAD. Based on a traditional CAD risk prediction model containing only non-laboratory-based information, the addition of PRS for hard CAD increased Harrell's C index by 0.001 (-0.001 to 0.003) in women and 0.003 (0.001 to 0.005) in men. Among the different high-risk thresholds ranging from 1% to 10%, the highest categorical NRI was 3.2% (95% CI: 0.4-6.0%) at a high-risk threshold of 10.0% in women. The association of the PRS with soft CAD was much weaker than with hard CAD, leading to minimal or no improvement in the soft CAD model. CONCLUSIONS In this Chinese population sample, the current PRSs minimally changed risk discrimination and offered little improvement in risk stratification for soft CAD. Therefore, this may not be suitable for promoting genetic screening in the general Chinese population to improve CAD risk prediction.
Male ; Humans ; Female ; Coronary Artery Disease/genetics* ; Biological Specimen Banks ; East Asian People ; Risk Assessment/methods* ; Genetic Predisposition to Disease/genetics* ; Risk Factors ; Genome-Wide Association Study

5α-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone, which causes abnormal urogenital sinus development. The aim of this study was to analyze the relationship between genotype-phenotype, surgical selections, and postoperative complications of 5α-reductase 2-deficient patients with hypospadias. We retrospectively evaluated the medical records of patients who were diagnosed with 5α-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children's Hospital, Capital Medical University (Beijing, China), from April 2007 to December 2021. A total of 69 patients were included in this study; the mean age at surgery was 34.1 months, and the average follow-up time was 54.1 months. Sixty children were treated with preoperative hormone stimulation (PHS) to promote penile growth. The average penis length and glans width were increased by 1.46 cm and 0.62 cm, respectively. The most frequent mutations were p.R227Q (39.1%, 54/138), p.Q6* (15.2%, 21/138), p.G203S (12.3%, 17/138), and p.R246Q (11.6%, 16/138). In 64 patients who were followed up, 43 had a one-stage operation and 21 had a staged operation, and there were significant differences in external masculinization score (EMS) ( P = 0.008) and the average number of operation required to cure ( P < 0.001) between one-stage and staged operations. PHS had a positive effect ( P < 0.001) on penile development. The p.R227Q mutation was associated with higher EMS and less severe hypospadias. One-stage surgery can be selected if conditions permit. The growth and development of children are acceptable in the long term, but penis growth remains unsatisfactory. Long-term complications of hypospadias should be considered during puberty.
Male ; Humans ; Child ; Infant ; Hypospadias/surgery* ; Retrospective Studies ; Oxidoreductases ; Postoperative Complications ; Genetic Association Studies