A 6-year-old miniature pony mare was examined because of the abnormal appearance of the perineal region. A physical examination revealed an enlarged and penis-like clitoris in the vulva. The owner reported that the horse had frequently exhibited aggressive behavior. Blood and hair root samples were collected for the karyotyping and genetic marker tests. Cytogenetic and molecular analysis showed that the pony had a 64,XY SRY-positive disorder of sexual development (DSD). The owner opted for no surgical removal of the internal genitalia. This report describes the karyotyping and genetic marker analysis of 64,XY SRY-positive DSD in a miniature pony in South 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.

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.

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.

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

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

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*

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: 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

BACKGROUND AND OBJECTIVES: Altough tonsillectomy is one of the most common otolaryngological procedures, a highly reliable and effective method for reducing postoperative pain has yet to be identified. This study evaluated the efficacy of a non-steroidal anti-inflammatory drug (NSAID) mouthwash on postoperative pain in tonsillectomy patients. SUBJECTS AND METHOD: A total of 64 patients who underwent tonsillectomy were randomly assigned to one of two groups (32 patients each). One group received the NSAID mouthwash and the other a distilled water mouthwash. Postoperative pain in the two groups was compared by assessing pain severity 1-9 days postoperatively using a visual analog scale. RESULTS: Compared to the distilled water mouthwash group, patients using the NSAID mouthwash showed a statistically significant decrease in postoperative pain over the first 9 postoperative days. CONCLUSION: A NSAID mouthwash may be a simple and effective method for controlling post-tonsillectomy pain when administered in conjunction with routine medications.
Anti-Inflammatory Agents, Non-Steroidal ; Humans ; Methods ; Mouthwashes ; Pain, Postoperative ; Tonsillectomy ; Visual Analog Scale ; Water