1.Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing
Ja Hye KIM ; Kun Suk KIM ; Jae Hyeon HAN ; Dongsu KIM ; Chan Hoon KWAK ; Jin-Ho CHOI ; Sang Hoon SONG
Investigative and Clinical Urology 2024;65(5):487-493
Purpose:
We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).
Materials and Methods:
This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed. Sequence variants were classified into five different categories, pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign, following the American College of Medical Genetics and Genomics Standards and Guidelines.
Results:
The mean gestational age and birth weight were 35.3±2.0 weeks and 1.96±0.61 kg, respectively, with seven patients being small for gestational age. Hypospadias was present in 12 patients, with posterior type in 33.3% and anterior type in 66.7%.In three families with twins, both siblings had hypospadias. In addition, cryptorchidism was observed in one subject. Surgical correction of hypospadias was performed at a mean age of 22.1 months. Molecular analysis identified 12 different genetic variants, including two pathogenic mutations in the AMH (p.E389*) and SRD5A2 (p.R246Q) genes, found in subjects with hypospadias, respectively. However, only heterozygous mutations were detected.
Conclusions
This study did not identify a definitive genetic component contributing to the development of hypospadias; however, the findings suggest that intrauterine growth retardation may play a significant role.
2.Isolation and characterization of feline endometrial mesenchymal stem cells
Journal of Veterinary Science 2024;25(2):e31-
Background:
Recently, there has been a growing interest in stem cells for human medicine.Limited feline endometrial mesenchymal stem cell (fEM-MSC) research in veterinary medicine necessitates reporting for future feline disease research and therapy.
Objectives:
This study aimed to isolate fEM-MSCs from feline endometrial tissues and evaluate their morphology, proliferative ability, differentiation ability, and immunophenotype.
Methods:
Feline endometrial tissues were obtained from the ovariohysterectomies of healthy cats and isolated using an enzymatic method. The morphology and proliferative ability of the isolated cells were assessed using a doubling time (DT) assay from passages 3 to 6 (P3 − P6). We measured pluripotency gene expressions of cells in P2 using quantitative realtime polymerase chain reaction (qRT-PCR). To investigate MSC characteristics, a trilineage differentiation assay was conducted in P4, and cells in P4 were immunophenotyped using flow cytometry.
Results:
fEM-MSCs showed a typical spindle-shaped morphology under a microscope, and the DT was maintained from P3 to P6. fEM-MSCs could differentiate into adipocytes, osteoblasts, and chondrocytes, and expressed three pluripotency markers (OCT4, SOX2, and NANOG) by qRT-PCR. Immunophenotypic analysis showed that the fEM-MSCs were CD14− , CD34− , CD45− , CD9+ , and CD44+ .
Conclusions
In this study, the feline endometrium was a novel source of MSCs, and to the best of our knowledge, this is the first report on the isolation method and characteristics of fEM-MSCs.
3.Correlation of red cell distribution width and left atrial enlargement in Maltese dogs with myxomatous mitral valve disease in Republic of Korea
Hyun-Soon CHOI ; Han-Joon LEE ; Joong-Hyun SONG ; Kun-Ho SONG
Korean Journal of Veterinary Research 2024;64(2):e9-
Myxomatous mitral valve disease (MMVD) is a degenerative disease of the valve leaflets, causing left atrial dilatation and eccentric hypertrophy of the left ventricle by hemodynamic instability. Red cell distribution width (RDW) is a hematologic parameter that indicates the variation of red blood cell volume and size, reflecting anisocytosis. Human studies have found that anisocytosis is associated with poor prognosis in heart disease patients, and recent veterinary studies have also confirmed that the increase in RDW is associated with high mortality in MMVD patients. Medical records of 37 Maltese dogs with MMVD were retrospectively reviewed. When comparing RDW among the MMVD stage groups, there was a significant difference between stage B1, B2 and C. A significant and strong correlation between RDW and the left atrial-to-aortic ratio was identified. RDW was significantly correlated with the reticulocyte count independent of hematocrit, and the reticulocyte count exhibited a significant increase at stage C. This suggests that the congestive heart failure secondary to MMVD could be a contributory factor leading to an elevation in RDW. In conclusion, elevated RDW may associated with left atrial enlargement and progression of MMVD.
4.Treatment of canine CD3+/CD21+/CD45- T-zone lymphoma with chlorambucil and prednisolone in two dogs: case reports
Hee-Tae PARK ; Jeong-Min LEE ; Hyeon-A BAE ; Do-Hyeon YU ; Dong-In JUNG ; Kun-Ho SONG ; Joong-Hyun SONG
Korean Journal of Veterinary Research 2023;63(4):e38-
Canine T-zone lymphoma (TZL) is an indolent form of T-cell lymphoma. Conservative management is usually recommended; however, chemotherapy may be considered for symptomatic or progressive cases. Herein, we describe two dogs with generalized peripheral lymphadenopathy and peripheral blood lymphocytosis at presentation. One dog presented with gross lesions on the tongue. Flow cytometric immunophenotyping and cytological examinations demonstrated findings consistent with those of TZL. Chemotherapy with chlorambucil and prednisolone was administered, which resulted in improvement of the condition without any adverse events. Chemotherapy with chlorambucil may be considered as an appropriate choice for treating canine TZL.
5.Efficacy and Safety of Enavogliflozin versus Dapagliflozin as Add-on to Metformin in Patients with Type 2 Diabetes Mellitus: A 24-Week, Double-Blind, Randomized Trial
Kyung Ah HAN ; Yong Hyun KIM ; Doo Man KIM ; Byung Wan LEE ; Suk CHON ; Tae Seo SOHN ; In Kyung JEONG ; Eun-Gyoung HONG ; Jang Won SON ; Jae Jin NAH ; Hwa Rang SONG ; Seong In CHO ; Seung-Ah CHO ; Kun Ho YOON
Diabetes & Metabolism Journal 2023;47(6):796-807
Background:
Enavogliflozin is a novel sodium-glucose cotransporter-2 inhibitor currently under clinical development. This study evaluated the efficacy and safety of enavogliflozin as an add-on to metformin in Korean patients with type 2 diabetes mellitus (T2DM) against dapagliflozin.
Methods:
In this multicenter, double-blind, randomized, phase 3 study, 200 patients were randomized to receive enavogliflozin 0.3 mg/day (n=101) or dapagliflozin 10 mg/day (n=99) in addition to ongoing metformin therapy for 24 weeks. The primary objective of the study was to prove the non-inferiority of enavogliflozin to dapagliflozin in glycosylated hemoglobin (HbA1c) change at week 24 (non-inferiority margin of 0.35%) (Clinical trial registration number: NCT04634500).
Results:
Adjusted mean change of HbA1c at week 24 was –0.80% with enavogliflozin and –0.75% with dapagliflozin (difference, –0.04%; 95% confidence interval, –0.21% to 0.12%). Percentages of patients achieving HbA1c <7.0% were 61% and 62%, respectively. Adjusted mean change of fasting plasma glucose at week 24 was –32.53 and –29.14 mg/dL. An increase in urine glucose-creatinine ratio (60.48 vs. 44.94, P<0.0001) and decrease in homeostasis model assessment of insulin resistance (–1.85 vs. –1.31, P=0.0041) were significantly greater with enavogliflozin than dapagliflozin at week 24. Beneficial effects of enavogliflozin on body weight (–3.77 kg vs. –3.58 kg) and blood pressure (systolic/diastolic, –5.93/–5.41 mm Hg vs. –6.57/–4.26 mm Hg) were comparable with those of dapagliflozin, and both drugs were safe and well-tolerated.
Conclusion
Enavogliflozin added to metformin significantly improved glycemic control in patients with T2DM and was non-inferior to dapagliflozin 10 mg, suggesting enavogliflozin as a viable treatment option for patients with inadequate glycemic control on metformin alone.
6.Impact of Coronavirus Disease 2019 on Gastric Cancer Diagnosis and Stage:A Single-Institute Study in South Korea
Moonki HONG ; Mingee CHOI ; JiHyun LEE ; Kyoo Hyun KIM ; Hyunwook KIM ; Choong-Kun LEE ; Hyo Song KIM ; Sun Young RHA ; Gyu Young PIH ; Yoon Jin CHOI ; Da Hyun JUNG ; Jun Chul PARK ; Sung Kwan SHIN ; Sang Kil LEE ; Yong Chan LEE ; Minah CHO ; Yoo Min KIM ; Hyoung-Il KIM ; Jae-Ho CHEONG ; Woo Jin HYUNG ; Jaeyong SHIN ; Minkyu JUNG
Journal of Gastric Cancer 2023;23(4):574-583
Purpose:
Gastric cancer (GC) is among the most prevalent and fatal cancers worldwide.National cancer screening programs in countries with high incidences of this disease provide medical aid beneficiaries with free-of-charge screening involving upper endoscopy to detect early-stage GC. However, the coronavirus disease 2019 (COVID-19) pandemic has caused major disruptions to routine healthcare access. Thus, this study aimed to assess the impact of COVID-19 on the diagnosis, overall incidence, and stage distribution of GC.
Materials and Methods:
We identified patients in our hospital cancer registry who were diagnosed with GC between January 2018 and December 2021 and compared the cancer stage at diagnosis before and during the COVID-19 pandemic. Subgroup analyses were conducted according to age and sex. The years 2018 and 2019 were defined as the “before COVID” period, and the years 2020 and 2021 as the “during COVID” period.
Results:
Overall, 10,875 patients were evaluated; 6,535 and 4,340 patients were diagnosed before and during the COVID-19 period, respectively. The number of diagnoses was lower during the COVID-19 pandemic (189 patients/month vs. 264 patients/month) than before it.Notably, the proportion of patients with stages 3 or 4 GC in 2021 was higher among men and patients aged ≥40 years.
Conclusions
During the COVID-19 pandemic, the overall number of GC diagnoses decreased significantly in a single institute. Moreover, GCs were in more advanced stages at the time of diagnosis. Further studies are required to elucidate the relationship between the COVID-19 pandemic and the delay in the detection of GC worldwide.
7.Presumptive Border Collie collapse in a dog: serial clinical observation and successful management
Ji-Young LEE ; Jeong-Min LEE ; Jin-Young KIM ; Kun-Ho SONG ; Joong-Hyun SONG
Korean Journal of Veterinary Research 2023;63(2):e10-
A 6-month-old female Border Collie presented with a history of collapse after strenuous exercise. The dog was normal between episodes but experienced loss of focus and ataxia after exercise. This is particularly noticeable under hot weather conditions. No remarkable findings were observed in the diagnostic tests. Based on these results, the patient was tentatively diagnosed with Border Collie collapse (BCC). After exercise restriction, the dog had no episode of collapse and remained clinically well with no signs until the follow-up period of 8 months was complete. To our knowledge, this is the first case report of BCC in South Korea.
8.Correlation of Sagittal Imbalance and Recollapse after Percutaneous Vertebroplasty for Thoracolumbar Osteoporotic Vertebral Compression Fracture: A Multivariate Study of Risk Factors
Whoan Jeang KIM ; Sang Beom MA ; Hyun Min SHIN ; Dae Geon SONG ; Jae Won LEE ; Shan Haw CHANG ; Kun Young PARK ; Won Sik CHOY ; Tae Ho OH
Asian Spine Journal 2022;16(2):231-240
Methods:
Ambulatory patients who underwent single-level PVP for thoracolumbar OVF with a follow-up of at least 24 months were retrospectively reviewed. The patients were divided into two groups depending on the presence of symptomatic recollapse at the cemented vertebra: (1) recollapsed (RC) group and (2) noncollapsed (NC) group. The patient characteristics and radiographic measurements associated with sagittal imbalance were analyzed at each follow-up visit.
Results:
Overall, 134 patients (RC group, n=28; NC group, n=106) were enrolled. The mean fracture-free interval was 3.2 months (range, 1.2–25.1 months). The multivariate binary logistic regression analysis identified low bone mineral density (p =0.047), degree of dynamic mobility within the vertebra (p =0.025), and sagittal imbalance as significant risk factors for recollapse (p =0.013; odds ratio, 5.405). The progression of sagittal imbalance and thoracolumbar kyphosis (T10–L2) was more significant in the RC and sagittal imbalance groups than in the NC group (both p =0.000).
Conclusions
Sagittal imbalance, lower bone mineral density, and dynamic mobility within the vertebra are associated with the recollapse of cemented vertebrae following PVP. Sagittal imbalance, rather than local kyphosis or thoracolumbar kyphosis, is particularly significant in that it results in more progressive collapse and sagittal deformity and is accompanied by substantial back pain and neurological deficits. Therefore, a stricter and more active management, including anti-osteoporosis medication, is required for the treatment of OVF with sagittal imbalance of the spine.
9.A Case of Voice Therapy for Post-Thyroidectomy Syndrome
Journal of the Korean Society of Laryngology Phoniatrics and Logopedics 2022;33(1):45-49
Post-thyroidectomy syndrome refers to various voice changes experienced after the thyroid surgery. Among them, surgery or injection therapy has been prioritized over voice therapy for the bilateral vocal cord paralysis. However, if it is possible to determine whether voice therapy can be applied first, a faster treatment recovery will be possible. In this study, voice therapy was performed on a 59-year-old female patient with bilateral vocal cord paralysis after total thyroidectomy. This study is to presents the criteria for applying the voice therapy first for bilateral vocal folds paralysis and to share successful voice therapy sessions.
10.Comparison of Factors Associated With Direct Versus Transferred-in Admission to Government-Designated Regional Centers Between Acute Ischemic Stroke and Myocardial Infarction in Korea
Dae-Hyun KIM ; Seok-Joo MOON ; Juneyoung LEE ; Jae-Kwan CHA ; Moo Hyun KIM ; Jong-Sung PARK ; Byeolnim BAN ; Jihoon KANG ; Beom Joon KIM ; Won-Seok KIM ; Chang-Hwan YOON ; Heeyoung LEE ; Seongheon KIM ; Eun Kyoung KANG ; Ae-Young HER ; Cindy W YOON ; Joung-Ho RHA ; Seong-Ill WOO ; Won Kyung LEE ; Han-Young JUNG ; Jang Hoon LEE ; Hun Sik PARK ; Yang-Ha HWANG ; Keonyeop KIM ; Rock Bum KIM ; Nack-Cheon CHOI ; Jinyong HWANG ; Hyun-Woong PARK ; Ki Soo PARK ; SangHak YI ; Jae Young CHO ; Nam-Ho KIM ; Kang-Ho CHOI ; Juhan KIM ; Jae-Young HAN ; Jay Chol CHOI ; Song-Yi KIM ; Joon-Hyouk CHOI ; Jei KIM ; Min Kyun SOHN ; Si Wan CHOI ; Dong-Ick SHIN ; Sang Yeub LEE ; Jang-Whan BAE ; Kun Sei LEE ; Hee-Joon BAE
Journal of Korean Medical Science 2022;37(42):e305-
Background:
There has been no comparison of the determinants of admission route between acute ischemic stroke (AIS) and acute myocardial infarction (AMI). We examined whether factors associated with direct versus transferred-in admission to regional cardiocerebrovascular centers (RCVCs) differed between AIS and AMI.
Methods:
Using a nationwide RCVC registry, we identified consecutive patients presenting with AMI and AIS between July 2016 and December 2018. We explored factors associated with direct admission to RCVCs in patients with AIS and AMI and examined whether those associations differed between AIS and AMI, including interaction terms between each factor and disease type in multivariable models. To explore the influence of emergency medical service (EMS) paramedics on hospital selection, stratified analyses according to use of EMS were also performed.
Results:
Among the 17,897 and 8,927 AIS and AMI patients, 66.6% and 48.2% were directly admitted to RCVCs, respectively. Multivariable analysis showed that previous coronary heart disease, prehospital awareness, higher education level, and EMS use increased the odds of direct admission to RCVCs, but the odds ratio (OR) was different between AIS and AMI (for the first 3 factors, AMI > AIS; for EMS use, AMI < AIS). EMS use was the single most important factor for both AIS and AMI (OR, 4.72 vs. 3.90). Hypertension and hyperlipidemia increased, while living alone decreased the odds of direct admission only in AMI;additionally, age (65–74 years), previous stroke, and presentation during non-working hours increased the odds only in AIS. EMS use weakened the associations between direct admission and most factors in both AIS and AMI.
Conclusions
Various patient factors were differentially associated with direct admission to RCVCs between AIS and AMI. Public education for symptom awareness and use of EMS is essential in optimizing the transportation and hospitalization of patients with AMI and AIS.

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