Although pork quality traits are important commercially, genome-wide association studies (GWASs) have not well considered Landrace and Yorkshire pigs worldwide. Landrace and Yorkshire pigs are important pork-providing breeds. Although quantitative trait loci of pigs are well-developed, significant genes in GWASs of pigs in Korea must be studied. Through a GWAS using the PLINK program, study of the significant genes in Korean pigs was performed. We conducted a GWAS and surveyed the gene ontology (GO) terms associated with the backfat thickness (BF) trait of these pigs. We included the breed information (Yorkshire and Landrace pigs) as a covariate. The significant genes after false discovery rate (<0.01) correction were AFG1L, SCAI, RIMS1, and SPDEF. The major GO terms for the top 5% of genes were related to neuronal genes, cell morphogenesis and actin cytoskeleton organization. The neuronal genes were previously reported as being associated with backfat thickness. However, the genes in our results were novel, and they included ZNF280D, BAIAP2, LRTM2, GABRA5, PCDH15, HERC1, DTNBP1, SLIT2, TRAPPC9, NGFR, APBB2, RBPJ, and ABL2. These novel genes might have roles in important cellular and physiological functions related to BF accumulation. The genes related to cell morphogenesis were NOX4, MKLN1, ZNF280D, BAIAP2, DNAAF1, LRTM2, PCDH15, NGFR, RBPJ, MYH9, APBB2, DTNBP1, TRIM62, and SLIT2. The genes that belonged to actin cytoskeleton organization were MKLN1, BAIAP2, PCDH15, BCAS3, MYH9, DTNBP1, ABL2, ADD2, and SLIT2.
Actin Cytoskeleton ; Gene Ontology ; Genome-Wide Association Study* ; Korea ; Morphogenesis ; Neurons ; Quantitative Trait Loci ; Red Meat ; Swine*

Despite the importance of mutation rate, some difficulties exist in estimating it. Next-generation sequencing (NGS) data yields large numbers of single-nucleotide polymorphisms, which can make it feasible to estimate substitution rates. The genetic substitution rates of Hanwoo and Holstein cattle were estimated using NGS data. Our main findings was to calculate the gene's substitution rates. Through estimation of genetic substitution rates, we found: diving region of altered substitution density exists. This region may indicate a boundary between protected and unprotected genes. The protected region is mainly associated with the gene ontology terms of regulatory genes. The genes that distinguish Hanwoo from Holstein in terms of substitution rate predominantly have gene ontology terms related to blood and circulatory system. This might imply that Hanwoo and Holstein evolved with dissimilar mutation rates and processes after domestication. The difference in meat quality between Hanwoo and Holstein could originate from differential evolution of the genes related to these blood and circulatory system ontology terms.
Animals ; Cattle* ; Diving ; Gene Ontology ; Genes, Regulator ; Genome* ; Meat ; Mutation Rate

Chronic expanding hematoma (CEH) is a hematoma that increases in size, usually occurring after trauma or surgery, more than a month after initial bleeding. Thighs and upper limbs are the most common sites of CEH. Only a few cases of CEH have been reported in the amputation stump site since CEH itself is a rare disease.We experienced a case of a 59-year-old man who underwent transtibial amputation and suffered from recurrent non-infectious hematoma. For the treatment of CEH, the patient underwent an open bursectomy, followed by bony spur removal surgery. However, CEH recurred, and the pain was only managed by intermittent aspiration and compression. We report a long journey of managing painful CEH of the transtibial amputation stump.

This retrospective study aimed to evaluate the difference in measurement between conventional orthodontic analysis and artificial intelligence orthodontic analysis in pediatric and adolescent patients aged 7 - 15 with the mixed and permanent dentition.
A total of 60 pediatric and adolescent patients (30 mixed dentition, 30 permanent dentition) who underwent lateral cephalometric radiograph for orthodontic diagnosis were randomly selected. Seventeen cephalometric landmarks were identified, and 22 measurements were calculated by 1 examiner, using both conventional analysis method and deep learning-based analysis method. Errors due to repeated measurements were assessed by Pearson’s correlation coefficient. For the mixed dentition group and the permanent dentition group, respectively, a paired t-test was used to evaluate the difference between the 2 methods.
The difference between the 2 methods for 8 measurements were statistically significant in mixed dentition group: APDI, SNA, SNB, Mandibular plane angle, LAFH (p < 0.001), Facial ratio (p = 0.001), U1 to SN (p = 0.012), and U1 to A-Pg (p = 0.021). In the permanent dentition group, 4 measurements showed a statistically significant difference between the 2 methods: ODI (p = 0.020), Wits appraisal (p = 0.025), Facial ratio (p = 0.026), and U1 to A-Pg (p = 0.001).
Compared with the time-consuming conventional orthodontic analysis, the deep learning-based cephalometric system can be clinically acceptable in terms of reliability and validity. However, it is essential to understand the limitations of the deep learning-based programs for orthodontic analysis of pediatric and adolescent patients and use these programs with the proper assessment.

The surgical treatments for aortic arch aneurysm are thought to be very invasive procedures, and high morbidity and mortality rates have been reported after aortic arch aneurysm operations. Many surgeons currently prefer the insertion of a stent-graft rather than an operation for treating an aortic arch aneurysm and if needed, with bypass of the subclavian or carotid arteries, which is called the 'hybrid method'. We managed one patient with an aortic arch aneurysm by using the hybrid method, and so we report on this case with a review of the relevant literature.
Aneurysm ; Aorta, Thoracic ; Aortic Aneurysm, Thoracic ; Carotid Arteries ; Chimera ; Humans ; Stents

Academic Medical Centers ; Female ; Follow-Up Studies ; Humans ; Korea ; Male ; Prostheses and Implants ; Survival Rate ; Titanium

Rosai–Dorfman Disease (RDD) is a rare lymphoproliferative disease, and the occurrence of isolated intracranial RDD is extremely rare. Most cases of intracranial RDDs present as dural masses showing homogenous enhancement on MRI, which makes it difficult to differentiate these masses from meningiomas before surgery unless massive cervical lymphadenopathy is observed. We herein report a rare case of isolated intracranial RDD in a 65-year-old male. Brain MRI revealed a well-defined enhancing mass-like lesion involving the right frontal convexity and subtle diffusion restriction. However, only a subtle blush was observed on the preoperative cerebral angiogram. Although instances of isolated intracranial RDD are rare, it should be considered as a potential differential diagnosis when a dural mass with hypovascularity is visualized on the cerebral angiogram.

We sought the novel concept, transcript capacity (TC) and analyzed TC. Our approach to estimate TC was through an in silico method. TC refers to the capacity that a transcript exerts in a cell as enzyme or protein function after translation. We used the genome-wide association study (GWAS) beta effect and transcription level in RNA-sequencing to estimate TC. The trait was body fat percent and the transcript reads were obtained from the human protein atlas. The assumption was that the GWAS beta effect is the gene’s effect and TC was related to the corresponding gene effect and transcript reads. Further, we surveyed gene ontology (GO) in the highest TC and the lowest TC genes. The most frequent GOs with the highest TC were neuronal-related and cell projection organization related. The most frequent GOs with the lowest TC were wound-healing related and embryo development related. We expect that our analysis contributes to estimating TC in the diverse species and playing a benevolent role to the new bioinformatic analysis.
Adipose Tissue ; Computational Biology ; Computer Simulation ; Embryonic Development ; Female ; Gene Ontology ; Genome-Wide Association Study ; Humans ; Methods ; Pregnancy

Sex is an important factor in understanding the clinical presentation, management, and developmental trajectory of children with neuropsychiatric disorders. While much is known about the clinical and neurobehavioral profiles of males with neuropsychiatric disorders, surprisingly little is known about females in this respect. Animal models may provide detailed mechanistic information about sex differences in autism spectrum disorder (ASD) in terms of manifestation, disease progression, and development of therapeutic options. This review aims to widen our understanding of the role of sex in autism spectrum disorder, by summarizing and comparing behavioral characteristics of animal models. Our current understanding of how differences emerge in boys and girls with neuropsychiatric disorders is limited: Information derived from animal studies will stimulate future research on the role of biological maturation rates, sex hormones, sex-selective protective (or aggravating) factors and psychosocial factors, which are essential to devise sex precision medicine and to improve diagnostic accuracy. Moreover, there is a strong need of novel strategies to elucidate the major mechanisms leading to sex-specific autism features, as well as novel models or methods to examine these sex differences.
Animals ; Autism Spectrum Disorder* ; Autistic Disorder* ; Child ; Disease Progression ; Female ; Gonadal Steroid Hormones ; Humans ; Male ; Models, Animal ; Precision Medicine ; Psychology ; Rodentia* ; Sex Characteristics

Previous studies in Holstein have shown 35% to 51.8% heritability in milk production traits, such as milk yield, fat, and protein, using pedigree data. Other studies in complex human traits could be captured by common single-nucleotide polymorphisms (SNPs), and their genetic variations, attributed to chromosomes, are in proportion to their length. Using genome-wide estimation and partitioning approaches, we analyzed three quantitative Holstein traits relevant to milk production in Korean Holstein data harvested from 462 individuals genotyped for 54,609 SNPs. For all three traits (milk yield, fat, and protein), we estimated a nominally significant (p = 0.1) proportion of variance explained by all SNPs on the Illumina BovineSNP50 Beadchip (h(2)(G)). These common SNPs explained approximately most of the narrow-sense heritability. Longer genomic regions tended to provide more phenotypic variation information, with a correlation of 0.46~0.53 between the estimate of variance explained by individual chromosomes and their physical length. These results suggested that polygenicity was ubiquitous for Holstein milk production traits. These results will expand our knowledge on recent animal breeding, such as genomic selection in Holstein.
Animals ; Breeding* ; Genetic Variation ; Humans ; Milk ; Pedigree ; Polymorphism, Single Nucleotide*