A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.
Adolescent ; Arm ; Azoospermia ; Centromere ; Estradiol ; Fluorescence ; Follicle Stimulating Hormone ; Foot ; Genitalia ; Gynecomastia* ; Hand ; Humans ; In Situ Hybridization ; Karyotype ; Male* ; Metacarpal Bones ; Metatarsal Bones ; Overweight ; Polymerase Chain Reaction ; Reference Values ; RNA ; Sequence Tagged Sites ; Testosterone ; Toes ; Y Chromosome

Hemoglobin (Hb) Yamagata is a rare Hb variant, which has been reported only twice-one case each in Japan and Korea. This variant arises from a Lys --> Asn substitution due to a mutation of AAA to AAC or AAT at codon 133 of the beta-globin gene. This study reports the third case of a patient detected with Hb Yamagata [HBB: c.399A>T; p.Lys133Asn] and discusses the effect of this variant on HbA1c measurement. This variant was detected in a 70-yr-old Korean man with diabetes mellitus during a routine follow-up. The HbA1c concentration determined using Variant ll Turbo (Bio-Rad, USA) was abnormally high at 47.9%. It was impossible to measure the HbA1c level accurately using Variant ll Thalassemia Mode (Bio-Rad, USA). However, the HbA1c levels analyzed by HLC-723 G7 (Tosoh, Japan), Cobas Integra (Roche, Switzerland) and NycoCard (Axis-Shield, Norway) were 5.0%, 8.0%, and 7.9%, respectively. This study shows that Hb Yamagata interferes with the accurate measurement of HbA1c levels in a diabetic patient. Taking these findings into consideration, we think that an immunoassay or affinity chromatography can be used as an alternate method for measuring the HbA1c level in a patient with this variant. In conclusion, a patient can be inferred to have an Hb variant if the HbA1c concentration is abnormally high or low or if there is a discrepancy between the results obtained using different methods, and if the clinical status of the patient suggests the presence of abnormal Hb. Subsequently, the HbA1c values can be determined by methods based on different principles.
Aged ; Amino Acid Substitution ; Diabetes Mellitus/diagnosis ; Electrophoresis, Capillary ; Hemoglobin A, Glycosylated/*analysis ; Hemoglobins, Abnormal/*analysis ; Humans ; Male ; Reagent Kits, Diagnostic ; Sequence Analysis, DNA ; beta-Globins/genetics

Benzylideneacetophenone derivative (1E)-1-(4-hydroxy-3-methoxyphenyl) hept-1-en-3-one (JC3) elicited cytotoxic effects on MDA-MB 231 human breast cancer cells-radiation resistant cells (MDA-MB 231-RR), in a dose-dependent manner, with an IC₅₀ value of 6 μM JC3. JC3-mediated apoptosis was confirmed by increase in sub-G1 cell population. JC3 disrupted the mitochondrial membrane potential, and reduced expression of anti-apoptotic B cell lymphoma-2 protein, whereas it increased expression of pro-apoptotic Bcl-2-associated X protein, leading to the cleavage of caspase-9, caspase-3 and poly (ADP-ribose) polymerase. In addition, JC3 activated mitogen-activated protein kinases, and specific inhibitors of these kinases abrogated the JC3-induced increase in apoptotic bodies. JC3 increased the level of intracellular reactive oxygen species and enhanced oxidative macromolecular damage via lipid peroxidation, protein carbonylation, and DNA strand breakage. Considering these findings, JC3 is an effective therapy against radiation-resistant human breast cancer cells.
Apoptosis* ; bcl-2-Associated X Protein ; Breast Neoplasms* ; Breast* ; Caspase 3 ; Caspase 9 ; Chalcone* ; DNA ; Extracellular Vesicles ; Humans* ; Lipid Peroxidation ; Membrane Potential, Mitochondrial ; Mitogen-Activated Protein Kinases ; Oxidative Stress* ; Phosphotransferases ; Protein Carbonylation ; Reactive Oxygen Species

OBJECTIVES: Bedding in childcare centers (CCCs) can hold house dust mite (HDM) allergens. This study examined whether HDM allergen levels can be reduced through the distribution of an educational newsletter on bedding control to parents of CCC children in Korea. METHODS: All 38 CCCs were measured for Der 1 (sum of Der f 1 and Der p 1) concentrations on classroom floors and bedding before the intervention. Educational newsletters on children’s bedding control were sent to 21 CCCs by mail, and teachers were asked to distribute the newsletters to the parents of the children (intervention group). The remaining 17 CCCs were not sent newsletters (control group). The measurement of Der 1 concentrations in 38 CCCs was repeated after the intervention. Dust samples were collected with a vacuum cleaner and analyzed using enzyme-linked immunosorbent assay methods. RESULTS: The Der 1 concentrations on the bedding were significantly higher than those on the floors in 38 CCCs at baseline (p<0.05). Although changes of the Der 1 concentrations for the control group (n=17) were not significant, Der 1 concentrations for the intervention group (n=21) decreased significantly from 2077.9 ng/g dust to 963.5 ng/g dust on the floors and from 3683.9 ng/g dust to 610.4 ng/g dust on bedding (p<0.05). CONCLUSIONS: The distribution of educational newsletters on bedding control to parents may be an effective means of controlling HDMs in CCCs.
Allergens ; Child ; Dust* ; Enzyme-Linked Immunosorbent Assay ; Humans ; Korea* ; Parents ; Periodicals as Topic* ; Postal Service ; Pyroglyphidae* ; Vacuum

OBJECTIVES: Bedding in childcare centers (CCCs) can hold house dust mite (HDM) allergens. This study examined whether HDM allergen levels can be reduced through the distribution of an educational newsletter on bedding control to parents of CCC children in Korea. METHODS: All 38 CCCs were measured for Der 1 (sum of Der f 1 and Der p 1) concentrations on classroom floors and bedding before the intervention. Educational newsletters on children’s bedding control were sent to 21 CCCs by mail, and teachers were asked to distribute the newsletters to the parents of the children (intervention group). The remaining 17 CCCs were not sent newsletters (control group). The measurement of Der 1 concentrations in 38 CCCs was repeated after the intervention. Dust samples were collected with a vacuum cleaner and analyzed using enzyme-linked immunosorbent assay methods. RESULTS: The Der 1 concentrations on the bedding were significantly higher than those on the floors in 38 CCCs at baseline (p<0.05). Although changes of the Der 1 concentrations for the control group (n=17) were not significant, Der 1 concentrations for the intervention group (n=21) decreased significantly from 2077.9 ng/g dust to 963.5 ng/g dust on the floors and from 3683.9 ng/g dust to 610.4 ng/g dust on bedding (p<0.05). CONCLUSIONS: The distribution of educational newsletters on bedding control to parents may be an effective means of controlling HDMs in CCCs.
Allergens ; Child ; Dust* ; Enzyme-Linked Immunosorbent Assay ; Humans ; Korea* ; Parents ; Periodicals as Topic* ; Postal Service ; Pyroglyphidae* ; Vacuum

Placenta percreta is a extremely rare but it is accompanied by serious complication of pregnancy and its prediction is very difficult. Since spontaneous uterine rupture during the first trimester is an obstetric emergency, though it is rare, it is crucial that proper management should be taken promptly in order to decrease maternal and fetal morbidity and motality. We present a case of the spontaneous rupture of the uterus in the 14th week of pregnancy with a brief review of the literatures.
Emergencies ; Female ; Humans ; Placenta Accreta* ; Placenta* ; Pregnancy ; Pregnancy Trimester, First ; Rupture, Spontaneous ; Uterine Rupture* ; Uterus

No abstract available.
Adolescent ; Base Sequence ; Bone Marrow Diseases/*diagnosis/diagnostic imaging/genetics ; DNA Mutational Analysis ; Exocrine Pancreatic Insufficiency/*diagnosis/diagnostic imaging/genetics ; Humans ; Lipomatosis/*diagnosis/diagnostic imaging/genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Proteins/genetics ; Tomography, X-Ray Computed

This study was designed to investigate the cytoprotective effect of rosmarinic acid (RA) on ultraviolet B (UVB)-induced oxidative stress in HaCaT keratinocytes. RA exerted a significant cytoprotective effect by scavenging intracellular ROS induced by UVB. RA also attenuated UVB-induced oxidative macromolecular damage, including protein carbonyl content, DNA strand breaks, and the level of 8-isoprostane. Furthermore, RA increased the expression and activity of superoxide dismutase, catalase, heme oxygenase-1, and their transcription factor Nrf2, which are decreased by UVB radiation. Collectively, these data indicate that RA can provide substantial cytoprotection against the adverse effects of UVB radiation by modulating cellular antioxidant systems, and has potential to be developed as a medical agent for ROS-induced skin diseases.
Antioxidants* ; Catalase ; Cytoprotection ; DNA ; Heme Oxygenase-1 ; Humans* ; Keratinocytes ; Oxidative Stress* ; Reactive Oxygen Species ; Skin Diseases ; Superoxide Dismutase ; Transcription Factors

Connecting peptide (C-peptide), a byproduct of insulin biosynthesis, has diverse cellular and biological functions. Particulate mat-ter 2.5 (PM2.5 ) adversely affects human skin, leading to skin thickening, wrinkle formation, skin aging, and inflammation. This study aimed to investigate the protective effects of C-peptide against PM2.5 -induced damage to skin cells, focusing on oxidative stressas a key mechanism. C-peptide mitigated NADPH oxidation and intracellular reactive oxygen species (ROS) production inducedby PM2.5 . It also suppressed PM2.5 -induced NADPH oxidase (NOX) activity and alleviated PM2.5 -induced NOX1 and NOX4 expression. C-peptide protected against PM2.5 -induced DNA damage, lipid peroxidation, and protein carbonylation. Additionally, C-peptide mitigated PM2.5 -induced apoptosis by inhibiting intracellular ROS production. In summary, our findings suggest that C-peptide mitigates PM2.5 -induced apoptosis in human HaCaT keratinocytes by inhibiting intracellular ROS production and NOX activity.

Connecting peptide (C-peptide), a byproduct of insulin biosynthesis, has diverse cellular and biological functions. Particulate mat-ter 2.5 (PM2.5 ) adversely affects human skin, leading to skin thickening, wrinkle formation, skin aging, and inflammation. This study aimed to investigate the protective effects of C-peptide against PM2.5 -induced damage to skin cells, focusing on oxidative stressas a key mechanism. C-peptide mitigated NADPH oxidation and intracellular reactive oxygen species (ROS) production inducedby PM2.5 . It also suppressed PM2.5 -induced NADPH oxidase (NOX) activity and alleviated PM2.5 -induced NOX1 and NOX4 expression. C-peptide protected against PM2.5 -induced DNA damage, lipid peroxidation, and protein carbonylation. Additionally, C-peptide mitigated PM2.5 -induced apoptosis by inhibiting intracellular ROS production. In summary, our findings suggest that C-peptide mitigates PM2.5 -induced apoptosis in human HaCaT keratinocytes by inhibiting intracellular ROS production and NOX activity.