The Y-chromosome, as with other chromosomes in the cell, is subject to mutations. However, unlike autosomal genes, the Y chromosome does not undergo recombination, and therefore individuals from different geographical regions may have differing distribution patterns with respect to Y-chromosome mutations. More detailed knowledge and information regarding Y-chromosome mutations might therefore provide insights into phylogenetic history and personal identification. Here, we describe a case study involving genotype-phenotype discrepancy in an Indian male individual. We found that the mistyping in sex determination was caused by a deletion in the amelogenin Y (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR) loci using the PowerPlex(R) Y23 System, we found four more deleted loci on Yp11.2 (DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletion mapping for this sample, and we propose that the microdeletion on the Yp11.2 locus occurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies have reported that the AMEL Y deletion is a common mutation in the Indian population. Taking into account regional differences, we also analyzed several area-specific Y-chromosome mutations.
Amelogenin ; DNA* ; Humans ; Male ; Microsatellite Repeats ; Recombination, Genetic ; Y Chromosome*

Although there are many assessment tools for upper extremity (UE) function, it is still difficult to select an appropriate outcome measurement for the rehabilitation process of individuals with stroke. This review aims to classify each tool within the International Classification of Functioning, Disability and Health (ICF) framework and provide an overview of UE assessments. Through a comprehensive understanding of assessments based on ICF, health care professionals will be able to choose suitable measurement tools for individuals, facilitating their rehabilitation.

BACKGROUND/OBJECTIVES: Diabetes mellitus (DM) is a major chronic disease which increases global health problems. Diabetes-induced renal damage is associated with inflammation and fibrosis. Alpha (AT) and gamma-tocopherols (GT) have shown antioxidant and anti-inflammatory effects in inflammation-mediated injuries. The primary aim of this study was to investigate effects of AT and GT supplementations on hyperglycemia induced acute kidney inflammation in alloxan induced diabetic mice with different levels of fasting blood glucose (FBG). MATERIALS/METHODS: Diabetes was induced by injection of alloxan monohydrate (150 mg/kg, i.p) in ICR mice (5.5-week-old, male) and mice were subdivided according to their FBG levels and treated with different diets for 2 weeks; CON: non-diabetic mice, m-DMC: diabetic control mice with mild FBG levels (250 mg/dl < or = FBG < or = 450 mg/dl), m-AT: m-DM mice fed AT supplementation (35 mg/kg diet), m-GT: m-DM mice with GT supplementation (35 mg/kg diet), s-DMC: diabetic control mice with severe FBG levels (450 mg/dl < FBG), s-AT: s-DM mice with AT supplementation, s-GT: s-DM mice with GT supplementation. RESULTS: Both AT and GT supplementations showed similar beneficial effects on NFkappaB associated inflammatory response (phosphorylated inhibitory kappa B-alpha, interleukin-1beta, C-reactive protein, monocyte chemotactic protein-1) and pre-fibrosis (tumor growth factor beta-1 and protein kinase C-II) as well as an antioxidant emzyme, heme oxygenase-1 (HO-1) in diabetic mice. On the other hands, AT and GT showed different beneficial effects on kidney weight, FBG, and oxidative stress associated makers (malondialdehyde, glutathione peroxidase, and catalase) except HO-1. In particular, GT significantly preserved kidney weight in m-DM and improved FBG levels in s-DM and malondialdehyde and catalase in m- and s-DM, while AT significantly attenuated FBG levels in m-DM and improved glutathione peroxidase in m- and s-DM. CONCLUSIONS: The results suggest that AT and GT with similarities and differences would be considered as beneficial nutrients to modulate hyperglycemia induced acute renal inflammation. Further research with careful approach is needed to confirm beneficial effects of tocopherols in diabetes with different FBG levels for clinical applications.
Alloxan ; alpha-Tocopherol* ; Animals ; Blood Glucose ; C-Reactive Protein ; Catalase ; Chronic Disease ; Diabetes Mellitus ; Diet ; Fasting ; Fibrosis ; gamma-Tocopherol* ; Glutathione Peroxidase ; Hand ; Heme Oxygenase-1 ; Hyperglycemia* ; Inflammation* ; Interleukin-1beta ; Kidney* ; Malondialdehyde ; Mice ; Mice, Inbred ICR ; Monocytes ; Oxidative Stress* ; Protein Kinases ; Tocopherols

OBJECTIVES: The aim of this study was to determine whether children with Tourette disorder (TD) have functional impairment and executive dysfunction in comparison to children with attention-deficit hyperactivity disorder (ADHD) and non-affected controls. METHODS: From January 2006 to December 2013, 45 children and adolescents with TD and 50 children and adolescents with ADHD diagnosed at the Soonchunhyang University Bucheon Hospital and 50 non-affected controls were enrolled in this study. Functional impairment of the subjects was assessed using the Child and Adolescents Functioning Impairment Scale (CAFIS), parent and teacher versions. In addition, neuropsychological tests including Stroop color-word Test, Finger windows Test (FWT), and Digit span were administered. Outcomes were compared across the TD, ADHD, and non-affected controls. RESULTS: No difference in CAFIS-parent and CAFIS-teacher results was observed between children with TD and non-affected controls, whereas, children with ADHD showed more impairments relative to non-affected controls in the CAFIS-parent. According to the Stroop color-word Test, FWT, and Digit span, executive function in children with TD did not differ from non-affected controls. Children with ADHD had poorer performance in measures of the Stroop color-word Test compared to children with TD. CONCLUSION: Children and adolescents with TD but not ADHD were not significantly different from non-affected controls on most measures of functional impairment and executive function. These findings suggest that an education program and intervention for children with TD would be important to reducing the stigma of TD.
Adolescent ; Child* ; Education ; Executive Function ; Fingers ; Gyeonggi-do ; Humans ; Neuropsychological Tests ; Parents ; Tourette Syndrome*

To analyze medical professors’ evaluation of their online education experiences in an attempt to support faculty members and indicate the future direction of medical education. Faculty members who taught online in the first semester of 2020 at Yonsei University College of Medicine in South Korea were surveyed. The results of the survey were analyzed in June 2020. There were 88 respondents (35.1% of 251): 59 professors (67.0%), 16 associate professors (18.2%), and 13 assistant professors (14.8%). Their specialties lay in basic medicine (25.0%), clinical medicine (65.9%), and research and special purposes (9.1%). Sixteen participants (18.2%) had previous experience in online lectures; 23 (26.1%) reported that preparation time for online lectures was the same as before; 65 (73.9%) reported that the preparation time had increased; 38 (43.2%) faced difficulties in preparation and lecturing online, and among them 16 (42.1%) indicated inadequate interaction with students; 11 (28.9%) needed extra preparation time; and 11 (28.9%) attributed their difficulties to technical issues with the online platform. Participants’ satisfaction with online lectures was low (p<0.001). In the free response question on overall experience with online education, 38.3% mentioned the need for an instructional design that allows students to actively participate and interact with professors, 29.5% mentioned the need for the establishment of an information & communications technology system, and 17.0% mentioned the necessity of faculty development. To prepare for the current pandemic and more in the long term, an appropriate educational support system must be constructed, and a learner-centered instructional design that enables wider interactions and active learning is needed.

Primary hepatic lymphoma is extremely rare, representing less than 1% of all extranodal lymphomas. We report MR imaging features and pathologic correlation of a case of primary hepatic lymphoma. MR images showed a large lobulated mass with gradual contrast enhancement, resembling intrahepatic cholangiocarcinoma. However, both hepatobiliary phase image obtained 20 minutes after injection of hepatocyte specific contrast agent and diffusion-weighted image demonstrated characteristic three layered pattern representing viable lymphoma in the outer layer, tumor necrosis in the middle layer and necrotic hepatic parenchyma in the center.
Cholangiocarcinoma ; Hepatocytes ; Liver ; Liver Neoplasms ; Lymphoma ; Necrosis