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Metastasis to the penis from renal cell carcinoma (RCC) or any other primary cancer site is unusual; when it does occur, it often involves multiple organs. A 75-year-old man presented with penile pain and swelling. Three months earlier, he had open radical nephrectomy with thrombectomy and was diagnosed with clear-cell RCC with tumor thrombosis in the inferior vena cava. The follow-up imaging indicated metastasis to the penis, prompting a total penectomy due to worsening pain. The excised mass displayed features consistent with metastatic RCC. This case underscores the need to consider rare metastatic sites, such as the metastasis of RCC to the penis, in RCC patients. [ABSTRACT FROM AUTHOR]

Tissue-specific gene expression generates fundamental differences in the function of each tissue and affects the characteristics of the tumors that are created as a result. However, it is unclear how much the tissue specificity is conserved during grafting of the primary tumor into an immune-compromised mouse model. Here, we performed a comparative RNA-seq analysis of four different primary-patient derived xenograft (PDX) tumors. The analysis revealed a conserved RNA biotype distribution of primary−PDX pairs, as revealed by previous works. Interestingly, we detected significant changes in the splicing pattern of PDX, which was mainly comprised of skipped exons. This was confirmed by splicing variant-specific RT-PCR analysis. On the other hand, the correlation analysis for the tissue-specific genes indicated overall strong positive correlations between the primary and PDX tumor pairs, with the exception of gastric cancer cases, which showed an inverse correlation. These data propose a tissue-specific change in splicing events during PDX formation as a variable factor that affects primary−PDX integrity. [ABSTRACT FROM AUTHOR]

This study investigated defect formation and strain distribution in high-Mg-content Al-Mg alloys during normal rolling and cross-rolling processes. The finite element analysis (FEA) revealed the presence of wave defects and strain localization-induced zipper cracks in normal cold rolling, which were confirmed by the experimental results. The concentration of shear strain played a significant role in crack formation and propagation. However, the influence of wave defects was minimal in the cross-rolling process, which exhibited a relatively uniform strain distribution. Nonetheless, strain concentration at the edge and center regions led to the formation of zipper cracks and edge cracks, with more pronounced propagation observed in the experiments compared to FEA predictions. Furthermore, texture evolution was found to be a crucial factor affecting crack propagation, particularly with the development of the Goss texture component, which was observed via electron backscattered diffraction analysis at bending points. The Goss texture hindered crack propagation, while the Brass texture allowed cracks to pass through. This phenomenon was consistent with both FEA and experimental observations. To mitigate edge crack formation and propagation, potential strategies involve promoting the formation of the Goss texture at the edge through alloy and process conditions, as well as implementing intermediate annealing to alleviate stress accumulation. These measures can enhance the overall quality and reliability of Al-Mg alloys during cross-rolling processes. In summary, understanding the mechanisms of defect formation and strain distribution in Al-Mg alloys during rolling processes is crucial for optimizing their mechanical properties. The findings of this study provide insights into the challenges associated with wave defects, strain localization, and crack propagation. Future research and optimization efforts should focus on implementing strategies to minimize defects and improve the overall quality of Al-Mg alloys in industrial applications. [ABSTRACT FROM AUTHOR]

Dear Editor, The outgrowth of clones not expressing tumour antigens is a well-known immune evasion mechanism of cancer.1 Here, we defined constitutive neoantigens according to the essentiality of their corresponding genes, which are essentially expressed for tumour growth even under immune selection. Gene essentiality for tumour growth influences neoantigen-directed immunoediting Comparison of differential neoantigen load in all genes (gray line in A), high fitness effect genes (blue bar in A), and low fitness effect genes (red bar in A). Consistent with the ICI cohort results, larger differences in neoantigen load were observed when genes with high patient-specific fitness effects were used for neoantigen counting (Figure 4A,B and Figures S13A, S13B, and S14). [Extracted from the article]

Clinical performance of the Momguard non-invasive prenatal test (NIPT) was evaluated in a cohort of Korean pregnant women. The foetal trisomies 21, 18 and 13 (T21, T18 and T13) were screened by low-coverage massive parallel sequencing in the maternal blood. Among the 1011 confirmed samples, 32 cases (3.2%) had positive NIPT results. Of these positive cases, 20 cases of T21, all cases of T18 and two cases of T13 had concordant karyotype findings. Only one case out of the remaining 979 negative NIPT samples showed a false negative result. The overall sensitivity and specificity of Momguard to detect the three chromosomal aneuploidies were 96.8% and 99.8%, respectively. Momguard is a clinically useful tool for the detection of T21, T18 and T13 in singleton pregnancy. However, as other NIPT tests, it carries the risk of false positive and false negative results. Hence, the genetic counsellors should provide these limitations to the examinees.Impact StatementWhat is already known on this subject? The NIPT approach using massive parallel sequencing (MPS) showed high sensitivity and specificity in various clinical studies. These results are based on analysis systems using their own bioinformatics algorithms.What the results of this study add? When this NIPT technology was introduced in Korea, the first biological specimens collected in Korea were transported overseas for processing in overseas laboratories and analysed by other country's analysis methods. We needed our own NIPT algorithm and developed Momguard NIPT for the first time in Korea. This study attempted to evaluate this Momguard NIPT protocol prospectively in a large number of samples obtained from three Korean hospitals.What the implications are of these findings for clinical practice and/or further research? The overall sensitivity and specificity to identify T13, T18 and T21 were 96.8% and 99.8%, respectively. These accuracy values were comparable to that of other studies. From this study, we found that Momguard is a clinically useful tool for the detection of three chromosomal aneuploidies. However, as other NIPT tests, it carries the risk of false positive and false negative results. Hence, the genetic counsellors should provide these limitations to the examinees. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to investigate the impact of metabolic status on associations of serum vitamin D with hypogonadism and lower urinary tract symptoms (LUTS)/benign prostatic hyperplasia (BPH).Patients and Methods: A total of 612 men underwent physical examination, biochemical/hormonal blood testing, and transrectal prostate ultrasound. Moreover, the subjects filled out standard questionnaires for identification and grading of LUTS and hypogonadism symptoms. Parameters were statistically compared with independent t-tests and correlation analyses.Results: Vitamin D levels positively correlated with total testosterone (TT) but not with prostate volume or International Prostate Symptom Score (IPSS). Patients with metabolic syndrome had significantly lower vitamin D levels, which were not correlated with TT, prostate volume, or IPSS. However, vitamin D was positively correlated with TT, and negatively correlated with prostate volume and quality-of-life IPSS in subjects without metabolic syndrome.Conclusion: The clinical usefulness of vitamin D for treatment of hypogonadism or LUTS/BPH varies according to metabolic status. [ABSTRACT FROM AUTHOR]

Purpose: To determine whether listening to music during cystoscopy decreases anxiety, pain, and dissatisfaction among patients and results in a more comfortable and better-tolerated procedure. Materials and Methods: Seventy male patients who underwent rigid cystoscopy between May 2011 and December 2011 were randomized into the following: no music (Group I, n=35) or classical music during procedure (Group II, n=35). Before cystoscopy, lidocaine gel was instilled in the urethra, and both groups viewed their procedures on a video monitor. Anxiety levels were quantified according to the State-Trait Anxiety Inventory. A visual analog scale (0-10) was used for a self-assessment of satisfaction, discomfort, and willingness among patients to repeat the cystoscopy. Results: Demographic characteristics, mean age, procedure duration, and procedure indications were statistically similar between the two groups. The mean anxiety level and mean pain score of Group II were significantly lower than those of Group I ( p<0.001 for both). Group II also carried a significant greater mean satisfaction score compared with Group I ( p<0.001). Statistically significant differences were detected between groups in the postprocedural pulse rate and the systolic blood pressure ( p=0.012 and p=0.008, respectively), whereas preprocedure pulse rate and systolic blood pressure were similar. Conclusions: Listening to music during rigid cystoscopy significantly reduces feelings of pain, discomfort, and dissatisfaction. Music can serve as a simple, inexpensive, and effective adjunct to sedation during cystoscopy. We recommend the application of music during rigid cystoscopy for clinical use. [ABSTRACT FROM AUTHOR]

Complex phenotypes such as performance on the continuous performance test (CPT) are likely to exhibit epistasis. Genetic polymorphisms of noradrenergic system and brain-derived neurotrophic factor (BDNF), which participates in the differentiation and survival of noradrenergic neurons, have been reported to be associated with the performance on CPT. We evaluated the effect of the adrenergic α-2A receptor (ADRA2A) and BDNF gene-gene interaction on performance on the CPT in a Korean population with attention-deficit/hyperactivity disorder. In all, 122 participants with attention-deficit/hyperactivity disorder (8.6±2.3 years, 104 boys and 18 girls) completed the CPT. The DraI polymorphism of ADRA2A (rs583668) and rs11030101 polymorphism of BDNF were genotyped. Significant interaction effect was found of ADRA2A rs553668 and BDNF rs11030101 on response time variability (P=0.011) of the CPT. Our study provides preliminary evidence for the effect of the BDNF and ADRA2A gene-gene interaction on performance on the CPT in attention-deficit/hyperactivity disorder. [ABSTRACT FROM AUTHOR]

Objective: To define the role of laparoscopic ureterolithotomy (LU) as a primary modality for large proximal ureteral stones, we compared the outcomes of primary LU with those of ureterorenoscopy (URS), the currently established modality in this circumstance. Materials and Methods: Among 71 patients who underwent LU in our institution between February 2005 and January 2010, 32 patients with stone size over 1.5 cm who underwent LU as a primary modality without prior shockwave lithotripsy or URS and for whom LU was conducted as a separate procedure were exclusively enrolled. Based on preoperative characteristics of patients and stones, this patient group was matched with the URS group ( n = 32, rigid pneumatic lithotripter) during the same period. Results: The LU group and the URS group were similar in age, gender distribution, body mass index, stone size (18.1 ± 4.2 versus 17.9 ± 3.6 mm; P = .88), and stone location. Members of the LU group required a longer operative time (118 ± 53 versus 59 ± 41 minutes; P < .001) and hospital stay (5.9 ± 2.1 versus 3.4 ± 2.4 days; P < .001) and had greater blood loss (155 ± 62 mL). However, stone clearance rate (no remnant stone in postoperative X-ray of the kidney, ureter, and bladder) in a single session was marginally higher in the LU group (93.8% versus 68.8%; P = .06). Total complication rate was not significant and was slightly higher in the URS group (12.5% versus 21.9%, P = .51). Stone migration into the kidney ( n = 2 versus 5), ureteral perforation ( n = 0 versus 3), open conversion ( n = 1 versus 2), and ureteral stricture ( n = 1 versus 2), as long-term complications, occurred more frequently in the URS group. Conclusions: For large proximal ureteral stones, LU can be conducted safely as a first-line procedure without increase of complication rate, compared with conventional URS. Although LU required a prolonged operative time and a longer hospital stay and blood loss was greater, our data showed an advantage of LU in high clearance rate in a single procedure. [ABSTRACT FROM AUTHOR]

Background: Methylphenidate (MPH) blocks the norepinephrine transporter as well as the dopamine transporter. The α-2a-adrenergic receptor is a key component of the noradrenergic system. The aim of this study was to evaluate the association between the ADRA2A -1291 C>G polymorphism and the response to MPH treatment in Korean subjects with attention-deficit/hyperactivity disorder (ADHD). Methods: This study enrolled 114 ADHD children (mean age = 9.08 ± 1.94 years) from a child psychiatric clinic in South Korea. Subjects who had an improvement of ≥ 50% compared with the baseline ADHD rating scale (ARS) score or who had a Clinical Global Impression–improvement score of 1 or 2 points after treatment were defined as the “good response”. We examined the relationship of the ADRA2A to MPH response. Results: We found that a good response to MPH treatment, measured by the ARS as assessed by the parents, was observed for 76.9% of the subjects carrying the G/G genotype but for only 46.0% and 41.7% of those with the C/G and C/C genotypes, respectively [χ 2(2) = 11.929, p = .003]. We also found a significant difference in the change in total ARS scores between subjects with and without the G/G genotype [t(1) = 2.21, p = .029]. Conclusions: Our findings provide evidence of an association between the ADRA2A -1291 C>G genotype and response to MPH treatment in Korean subjects with ADHD. Nonetheless, the methodological limitation of not being a randomized placebo-controlled trial and primarily basing results on parent report to clinicians suggest that these results should be viewed as more preliminary. [Copyright &y& Elsevier]