Synonymous sites are generally considered to be functionally neutral. However, there are recent contradictory findings suggesting that synonymous alleles might have functional roles in various molecular aspects. For instance, a recent study demonstrated that synonymous single nucleotide polymorphisms have a similar effect size as nonsynonymous single nucleotide polymorphisms in human disease association studies. Researchers have recognized synonymous codon usage bias (SCUB) in the genomes of almost all species and have investigated whether SCUB is due to random nucleotide compositional bias or to natural selection of any functional exposure generated by synonymous mutations. One of the most prominent observations on the non-neutrality of synonymous codons is the correlation between SCUB and levels of gene expression, such that highly expressed genes tend to have a higher preference toward so-called optimal codons than lowly expressed genes. In relation, it is known that amounts of cognate tRNAs that bind to optimal codons are significantly higher than the amounts of cognate tRNAs that bind to non-optimal codons in genomes. In the present paper, we review various functions that synonymous codons might have other than regulating expression levels.
Alleles ; Bias (Epidemiology) ; Codon* ; Gene Expression ; Genome ; Humans ; Polymorphism, Single Nucleotide ; RNA, Transfer ; Selection, Genetic ; Silent Mutation

PURPOSE: To determine the effect of pelvic arch interference and the depth of the pelvic cavity, as shown on preoperative magnetic resonance imaging (MRI), on the performance of extraperitoneal laparoscopic radical prostatectomy (ELRP). MATERIALS AND METHODS: In 115 patients, pelvic bone images were obtained at the time of prostate MRI before ELRP. In the reconstructed sagittal plane, we measured the true conjugate diameter, the obstetric conjugate diameter, the difference between the true and obstetric diameters, and the distance between the true conjugate and the prostate apex (pelvic depth). We analyzed which factors were associated with operative time (OT), estimated blood loss (EBL), and positive surgical margins (PSMs). RESULTS: The difference between the true and obstetric conjugate diameters was 12.7+/-3.7 mm, and the pelvic depth was 59.9+/-6.0 mm. The OT, EBL, and the rate of PSMs were 260.1+/-91.1 minutes, 633.3+/-524.7 ml, and 19% (22/115), respectively. According to multiple linear regression analysis, predictors of a higher EBL included pelvic depth (3.0% higher per 1 mm increase in diameter difference, p=0.01) and prostate volume (1.5% higher per 1 cc increase in prostate volume, p=0.002). Factors associated with a longer OT were pelvic depth (p=0.04), serum prostate-specific antigen (p=0.04), prostate volume (p=0.02), and Gleason score (p=0.001). For PSMs, only pT2 was an independent factor. CONCLUSIONS: Our results suggest that the depth of the pelvic cavity and prostate volume may increase surgical difficulty in patients undergoing ELRP.
Humans ; Laparoscopy ; Linear Models ; Magnetic Resonance Imaging ; Neoplasm Grading ; Operative Time ; Pelvic Bones ; Prostate ; Prostate-Specific Antigen ; Prostatectomy

PURPOSE: This study aimed to evaluate the diagnostic value of radiologic findings in children with suspected foreign body aspiration. METHODS: A retrospective medical chart review was done on 32 children with suspected foreign bodies in terms of age, sex, symptoms, signs, bronchographic findings, and type and location of foreign bodies. The diagnostic value of radiography was analyzed: 29 with chest anteroposterior (AP) or posteroanterior (PA) view, 23 with chest lateral decubitus view, 27 with chest computed tomography (CT), 29 with chest AP, PA or chest lateral decubitus view, and 25 with bronchoscopy. RESULTS: As a measure for detecting foreign body aspiration, the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of radiologic findings were: chest AP or PA view, 50%, 100%, 100%, 29.4%, and 58.6%, respectively; chest lateral decubitus view, 57.9%, 50.0%, 84.6%, 20.0%, and 56.5%, respectively; chest AP, PA or chest lateral decubitus view, 69.6%, 66.7%, 88.8%, 36.4%, and 69.0%, respectively; and chest CT, 100.0%, 85.7%, 95.2%, 100.0%, and 96.2%, respectively. CONCLUSION: There is clinical benefit to take chest radiographs to diagnose foreign body aspiration. However, based on the results of this study, it may be not necessary to take chest lateral decubitus to diagnose foreign body aspiration. If chest radiographs show unilateral hyperinflation, foreign body aspiration can be diagnosed. In cases of normal chest radiography and history of a witnessed choking episode combined with positive signs, the diagnosis of airway foreign body aspiration should be made by using chest CT.
Airway Obstruction ; Bronchoscopy ; Child* ; Diagnosis ; Foreign Bodies* ; Humans ; Radiography ; Radiography, Thoracic* ; Retrospective Studies ; Sensitivity and Specificity ; Thorax* ; Tomography, X-Ray Computed

Background: Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA. Methods: We collected the data of a newly diagnosed pediatric HHA cohort (2007–2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997–2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey. Results: A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia. Conclusion In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.