Cis-AB and B(A) alleles encode an ABO enzyme with dual A and B glycosyltransferase activity. Although globally rare, the cis-AB phenotype is found relatively often in Korean, Japanese, and Chinese populations. Cases of the B(A) allele have been reported mostly in the Chinese population. Forward typing performed in a Cambodian woman with an ABO discrepancy demonstrated a strong reaction with anti-A and anti-B reagents, while there was no reaction with lectin anti-A 1. The anti-A 1 antibody was detected in reverse typing. Through ABO gene sequence analyses of exons 6 and 7, one of the alleles was identified as ABO*B.01. In contrast, the other allele harboring a c.803G＞C substitution was either ABO*cisAB.05 or ABO*BA.06 allele. The ABO*cisAB.05 and ABO*BA.06 alleles remain indistinguishable despite routine serological testing and ABO genotyping. To the best of the author’s knowledge, this is the first case report of these variants discovered in a Cambodian individual residing in Korea.

Cis-AB and B(A) alleles encode an ABO enzyme with dual A and B glycosyltransferase activity. Although globally rare, the cis-AB phenotype is found relatively often in Korean, Japanese, and Chinese populations. Cases of the B(A) allele have been reported mostly in the Chinese population. Forward typing performed in a Cambodian woman with an ABO discrepancy demonstrated a strong reaction with anti-A and anti-B reagents, while there was no reaction with lectin anti-A 1. The anti-A 1 antibody was detected in reverse typing. Through ABO gene sequence analyses of exons 6 and 7, one of the alleles was identified as ABO*B.01. In contrast, the other allele harboring a c.803G＞C substitution was either ABO*cisAB.05 or ABO*BA.06 allele. The ABO*cisAB.05 and ABO*BA.06 alleles remain indistinguishable despite routine serological testing and ABO genotyping. To the best of the author’s knowledge, this is the first case report of these variants discovered in a Cambodian individual residing in Korea.

The identification and characterization of pathogenic and zoonotic tick-borne diseases like granulocytic anaplasmosis are essential for developing effective control programs. The differential diagnosis of pathogenic Anaplasma phagocytophilum and non-pathogenic A. phagocytophilum-like Anaplasma spp. is important for implementing effective treatment from control programs. The objective of the present study was to investigate the prevalence of Anaplasma spp. in horses in Korea by nucleotide sequencing and restriction enzyme fragment length polymorphism assay. Of the 627 horses included in the study, only 1 (0.2%) was infected with A. phagocytophilum. Co-infection with A. phagocytophilumlike Anaplasma spp. was not detected in the study. The 16S rRNA sequence of A. phagocytophilum was similar (99.5–100%) to A. phagocytophilum 16S rRNA isolated from horses in other countries. PCR adapted to amplify A. phagocytophilum groEL and msp2 genes failed to generate amplicons, suggesting genetic diversity in these genes. This study is the first molecular detection of A. phagocytophilum in horses in Korea. Human granulocytic anaplasmosis and animal infection of A. phagocytophilum have been reported in Korea recently. Because of vector tick distribution, global warming, and the increase of the horse industry, horses should be considered as a potential reservoir for A. phagocytophilum, and cross infectivity should be evaluated even though a low prevalence of infection was detected in this study. Furthermore, continuous surveillance and effective control measures for A. phagocytophilum should be established to prevent disease distribution and possible transmission to humans.
Anaplasma phagocytophilum ; Anaplasma ; Anaplasmosis ; Animals ; Coinfection ; Diagnosis, Differential ; Genetic Variation ; Global Warming ; Granulocytes ; Horses ; Humans ; Korea ; Phylogeny ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Prevalence ; Tick-Borne Diseases ; Ticks

Female ; Humans ; Middle Aged ; Nasal Cavity ; Nasal Obstruction ; Parotid Gland ; Pathology ; Salivary Glands ; Turbinates

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

PURPOSE: The purpose of this study is to investigate the clinical significance of tyrosine hydroxylase (TH) expression in peripheral blood (PB) at diagnosis in patients with neuroblastoma. MATERIALS AND METHODS: TH mRNA expression in PB was measured by reverse transcription quantitative real-time polymerase chain reaction in 210 patients who were newly diagnosed with neuroblastoma from July 2005 to June 2015 and the clinical significance of TH expression in PB at diagnosis was evaluated. RESULTS: TH expression was positive in 60 patients (28.6%). Fifty of 60 TH-positive patients had metastatic tumors and the remaining 10 had localized tumors. TH expression was associated with high-risk features (i.e., advanced stage, older age, unfavorable pathology, and MYCN amplification) at diagnosis. Among TH-positive patients, higher TH expression level was observed in high-risk patients than in low- or intermediate-risk patients (p=0.035). The probability of 5-year progression-free survival (PFS) was lower in TH-positive patients than in TH-negative patients (63.8±6.9% vs. 94.7±2.1%, p < 0.001). In analysis confined to high-risk patients, the 5-year probability of PFS remained lower in TH-positive patients (55.7±8.2% vs. 89.6±5.8%, p < 0.001). Among TH-positive patients, a higher expression level of TH was associated with a worse outcome. In multivariate analyses, positive TH expression in PB at diagnosis was an independent poor prognostic factor for PFS. CONCLUSION: The treatment intensity should be tailored according to TH expression in PB at diagnosis.
Diagnosis* ; Disease-Free Survival ; Humans ; Multivariate Analysis ; Neuroblastoma* ; Pathology ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; Reverse Transcription ; RNA, Messenger* ; Tyrosine 3-Monooxygenase* ; Tyrosine*

Ocular setariases of cattle were reported but those of equine hosts have never been reported in the Republic of Korea (Korea). We found motile worms in the aqueous humor of 15 horses (Equus spp.) from 12 localities in southern parts of Korea between January 2004 and November 2017. After the affected animals were properly restrained under sedation and local anesthesia, 10 ml disposable syringe with a 16-gauge needle was inserted into the anterior chamber of the affected eye to successfully remove the parasites. The male worm that was found in 7 of the cases showed a pair of lateral appendages near the posterior terminal end of the body. The papillar arrangement was 3 pairs of precloacal, a pair of adcloacal, and 3 pairs of postcloacal papillae, plus a central papilla just in front of the cloaca. The female worms found in the eyes of 8 horses were characterized by the tapering posterior terminal end of the body with a smooth knob. Worms were all identified as Setaria digitata (von Linstow, 1906) by the morphologic characteristics using light and electron microscopic observations. This is the first blindness cases of 15 horses infected with S. digitata (Nematoda: Filarioidea) in Korea.
Anesthesia, Local ; Animals ; Anterior Chamber ; Aqueous Humor ; Blindness* ; Cattle ; Cloaca ; Female ; Horses* ; Humans ; Korea ; Male ; Needles ; Parasites ; Republic of Korea* ; Setariasis ; Syringes

BACKGROUND AND OBJECTIVES: Positional therapy is a therapeutic method for obstructive sleep apnea (OSA). However, little is known about the effectiveness of positional OSA treatment based on meta-analysis. Therefore, we undertook a review and meta-analysis of studies to assess the effect of positional therapy on OSA. SUBJECTS AND METHOD: We searched PubMed (Medline), OVID Medline, EMBASE, Cochrane Library, SCOPUS, KoreaMed, MedRIC, and KSI KISS using the key words “obstructive sleep apnea” and “positional therapy”. To estimate the effect of positional OSA therapy, we analyzed the ratio of means (ROM) for pre- and post-treatment polysomnographic data including apnea-hypopnea index (AHI), lowest oxygen saturation, arousal index, and sleep efficiency. RESULTS: Finally, twenty two studies from 21 papers were included in the meta-analysis. Positional therapy significantly decreased AHI by 54.1% [ROM, 0.459; 95% confidence interval (CI), 0.394 to 0.534] and increased lowest oxygen saturation by 3.3% (ROM, 1.033; 95% CI, 1.020 to 1.046). However, positional therapy did not significantly change arousal index (ROM, 0.846; 95% CI, 0.662 to 1.081) or sleep efficiency (ROM, 1.008; 95% CI, 0.990 to 1.027). CONCLUSION: Positional therapy significantly improves respiratory parameters including AHI and lowest oxygen saturation in patients with OSA.
Arousal ; Humans ; Methods ; Oxygen ; Polysomnography ; Sleep Apnea, Obstructive*

Lyme disease is a tick-borne zoonotic infectious disease caused by Borrelia burgdorferi. The present study assessed the infection status of B. burgdorferi among horses reared in Korea using ELISA and PCR. Between 2009 and 2013, blood samples were collected from 727 horses throughout Korea. Data for each animal including age, gender, breed, and region of sample collection were used for epidemiological analysis. Overall, 38 (5.2%; true prevalence: 5.5%) of 727 horses were seropositive by ELISA. There were statistically significant differences according to breed and region (P<0.001) whose differences might be attributed to the ecology of vector ticks and climate conditions. Using 2 nested PCR, none of the samples tested positive for B. burgdorferi. Thus, a positive ELISA result can indicate only that the tested horse was previously exposed to B. burgdorferi, with no certainty over the time of exposure. Since global warming is likely to increase the abundance of ticks in Korea, continuous monitoring of tick-borne diseases in Korean horses is needed.
Animals ; Antibodies, Bacterial/blood ; Borrelia burgdorferi/*physiology ; Enzyme-Linked Immunosorbent Assay/veterinary ; Female ; Horse Diseases/*epidemiology ; Horses ; Lyme Disease/epidemiology/*veterinary ; Male ; Republic of Korea/epidemiology

BACKGROUND AND OBJECTIVES: Pediatric obstructive sleep apnea (OSA) can have an effect on the quality of life (QOL) such as behavior, school performance, emotional distress and daytime function. We aim to verify changes in sleep disordered breathing based on polysomnographic findings and disease specific health related QOL before and after adenotonsillectomy in Korean children with OSA. SUBJECTS AND METHOD: A total 20 children aged 3 through 13 years old (mean age=6.7 years old and male/female=14/6) with OSA were included. We evaluated respiratory disturbances in patients using the standard polysomnography and the OSA-specific health related QOL based on Korean Obstructive Sleep Apnea-18 Survey (KOSA-18). RESULTS: There were significant improvements in apnea-hypopnea index (from 9.4±7.4 to 1.1±0.8 events/hour, p<0.001) and total score of KOSA-18 (71.3±26.0 to 33.6±10.7, p<0.001) after adenotonsillectomy. CONCLUSION: Sleep disordered breathing and QOL improve significantly after adenotonsillectomy in Korean OSA children.
Adenoidectomy ; Child ; Humans ; Methods ; Polysomnography ; Quality of Life* ; Sleep Apnea Syndromes* ; Sleep Apnea, Obstructive* ; Tonsillectomy