A single nucleotide polymorphism in CAPN1 associated with marbling score in Korean cattle

<p>Abstract</p> <p>Background</p> <p>Marbling score (MS) is the major quantitative trait that affects carcass quality in beef cattle. In this study, we examined the association between genetic polymorphisms of the micromolar calcium-activated neutral protease gene (micro-calpain, <it>CAPN1</it>) and carcass traits in Korean cattle (also known as Hanwoo).</p> <p>Results</p> <p>By direct DNA sequencing in 24 unrelated Korean cattle, we identified 39 sequence variants within exons and their flanking regions in <it>CAPN1</it>. Among them, 12 common polymorphic sites were selected for genotyping in the beef cattle (<it>n </it>= 421). Statistical analysis revealed that a polymorphism in the 3'UTR (<it>c.2151*479C>T</it>) showed significant association with MS (<it>P</it>^{<it>cor</it>.}= 0.02).</p> <p>Conclusion</p> <p>Our findings suggest that polymorphisms in <it>CAPN1 </it>might be one of the important genetic factors involved in carcass quality in beef cattle, although it could be false positive association.</p

Factors associated with delayed emergency room visits in adult immigrant patients with mild abdominal pain in Korea

Objective To determine the factors associated with unmet needs in immigrant patients complaining of abdominal pain, by analyzing those associated with the time from symptom onset to emergency room visit. Methods We retrospectively reviewed the medical records of immigrants with abdominal pain who visited a tertiary hospital emergency department from January to December 2016. The dependent variable was the time from symptom onset to emergency room visit. The independent variables were age, sex, vital signs, disposition, health insurance status, date of visit, time of visit, level of education, employment status, economic satisfaction, marital status, living with family, duration of residence, having a native spouse, and subjective proficiency in Korean. We analyzed the association of the dependent variable with each independent variable. Results In total, 102 immigrant patients with abdominal pain were enrolled in this study. The patients who had earlier visits had good subjective proficiency in Korean, high economic satisfaction, longer durations of residence, a tendency to have a native spouse, and a high employment rate. After linear regression analysis, the time from symptom onset to emergency room visit was negatively associated with employment (adjusted odds ratio, -13.67; 95% confidence interval, -23.25 to -4.09; P=0.006) and having a native spouse (adjusted odds ratio, -11.7; 95% confidence interval, -20.61 to -2.8; P=0.011). Conclusion The factors influencing the time from symptom onset to emergency room visit in immigrant patients with abdominal pain are associated with social capital, which improves access to emergency care. Policies that improve immigrant access to emergency care should be considered

Protective Effect of Hypoxic Preconditioning on Hypoxic-Ischemic Injured Newborn Rats

Brief episodes of cerebral hypoxia-ischemia cause transient ischemic tolerance to subsequent ischemic events that are otherwise lethal. This study was conducted to evaluate the protective effect of hypoxic preconditioning on hypoxic-ischemic injury in the neonatal rat and the persistence of a protective window after hypoxic preconditioning. The rats were preconditioned with hypoxia (8% oxygen, 92% nitrogen) for three hours, subjected to ischemia using ligation of the right common carotid artery, and then exposed to another three hours of hypoxia. Using proton magnetic resonance spectroscopy, terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end-labeling (TUNEL) staining, and morphologic scores, this study shows that hypoxic preconditioning 6-hr to 1-day before hypoxic-ischemic injury increases survival rates and has neuroprotective effects against subsequent hypoxic-ischemic injury. The mechanism of the protective effects of hypoxic preconditioning in the newborn rat brain may involve downregulation of apoptotic cell death

Very Late Stent Thrombosis due to Neointimal Rupture After Paclitaxel-Eluting Stent Implantation

We report our experience of very late stent thrombosis (VLST) in a young male patient who underwent implantation of two paclitaxel-eluting stents (PES) six years ago. The patient was compliant with standard dual antiplatelet therapy, but he presented with acute myocardial infarction which was associated with VLST. Intravascular ultrasound showed neointimal rupture with thrombus within the PES implanted in the right coronary artery. The lesion was successfully treated with balloon angioplasty without complications, however he was found to be hyporesponsive to clopidogrel when tested for adenosine diphosphate-induced platelet aggregation. The patient was discharged after uneventful recovery with triple anti-platelet therapy using aspirin, clopidogrel and cilostazol. To the best of our knowledge, a time interval of 2,223 days is the longest reported time interval between PES deployment and VLST occurrence. VLST may indeed occur in clinically stable patients, as multiple factors can influence the pathological mechanisms of VLST

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1–q44 (copy gain) and 18q21.33–18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities

Potential Association of DCBLD2 Polymorphisms with Fall Rates of FEV1 by Aspirin Provocation in Korean Asthmatics

Aspirin exacerbated respiratory disease (AERD) is a clinical syndrome characterized by chronic rhinosinusitis with nasal polyposis and aspirin hypersensitivity. The aspirin-induced bronchospasm is mediated by mast cell and eosinophilic inflammation. Recently, it has been reported that the expression of discoidin, CUB and LCCL domain-containing protein 2 (DCBLD2) is up-regulated in lung cancers and is regulated by transcription factor AP-2 alpha (TFAP2A), a component of activator protein-2 (AP-2) that is known to regulate IL-8 production in human lung fibroblasts and epithelial cells. To investigate the associations between AERD and DCBLD2 polymorphisms, 12 common variants were genotyped in 163 AERD subjects and 429 aspirin tolerant asthma (ATA) controls. Among these variants, seven SNPs (rs1371687, rs7615856, rs828621, rs828618, rs828616, rs1062196, and rs8833) and one haplotype (DCBLD2-ht1) show associations with susceptibility to AERD. In further analysis, this study reveals significant associations between the SNPs or haplotypes and the percentage of forced expiratory volume in one second (FEV1) decline following aspirin challenge using multiple linear regression analysis. Furthermore, a non-synonymous SNP rs16840208 (Asp723Asn) shows a strong association with FEV1 decline in AERD patients. Although further studies for the non-synonymous Asp723Asn variation are needed, our findings suggest that DCBLD2 could be related to FEV1-related phenotypes in asthmatics