• Proceedings of the Korean Society of Veterinary Pathology Conference
• /
• 2004.10a
• /
• pp.13-13
• /
• 2004

• Proceedings of the Korean Society of Veterinary Pathology Conference
• /
• 2004.10a
• /
• pp.23-23
• /
• 2004

• 대한예방의학회:학술대회논문집
• /
• 1998.10b
• /
• pp.135-136
• /
• 1998

• Kidney Research and Clinical Practice
• /
• v.37 no.4
• /
• pp.426-426
• /
• 2018

• Childhood Kidney Diseases
• /
• v.26 no.2
• /
• pp.111-115
• /
• 2022

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tractinfections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

• Journal of Interdisciplinary Genomics
• /
• v.4 no.1
• /
• pp.7-10
• /
• 2022

Purpose:Maturity onset diabetes of the young (MODY) is the most common hereditary form of diabetes mellitus (DM), with similar clinical manifestations to type 1 or type 2 DM, leading to diagnostic ambiguity. Despite increased genetic research on monogenic DM, studies with Asian populations are limited. Therefore, we investigated mutation in possible monogenic DM and MODY in Korean children and aldolescents. Methods: Targeted panel exome sequencing including 32 targets genes was performed for 41 patients with suspected monogenic DM at Kyungpook National University Children's Hospital. Results: Variants were detected in 19 patients, including those in known MODY-associated genes (HNF4A, GCK, HNF1A, CEL, PAX4, INS, and BLK) and monogenic DM-associated genes (WFS1, FRX6, and GLIS3). Conclusion: MODY variants were detected more than expected. Targeted exon sequencing is helpful in diagnosing MODY or possible monogenic DM patients.

• Journal of Yeungnam Medical Science
• /
• v.37 no.4
• /
• pp.302-307
• /
• 2020

Background: This study evaluated the usefulness of judgment of central lymph node (LN) metastasis by surgeon's palpation in papillary thyroid cancer. Methods: This study included 127 patients who underwent thyroidectomy and central compartment node dissection between October 2014 and February 2015. The criterion for suspicious LNs was hardness. Results: Of the 20.5% (28/127) of suspicious for metastatic LNs according to surgeon determination, 92.8% (26/28) were confirmed to be metastatic in the final pathological examinations. Metastatic LNs were found in 38 (38.3%) of 99 patients without suspicious LNs, 29 of whom (76.3%) had micrometastases. The sensitivity, specificity, and positive and negative predictive values for the determination of LN metastasis by a surgeon were 40.6%, 96.8%, 92.9%, and 61.6%, respectively. Conclusion: Determination of central LN metastasis by a surgeon's palpation may be useful to evaluate LNs owing to the high specificity and positive predictive values, especially in macrometastasis or high-risk LN disease.

• The Korean Journal of Nuclear Medicine
• /
• v.39 no.6
• /
• pp.489-490
• /
• 2005

Purpose: The thyroglossal duct runs from the base of the tongue to the thyroid. Rarely the thyroid completely fails to migrate and results in ectopic thyroid tissue, which can be demonstrated scintigraphically. A 31-year old female patient was referred for thyroid scintigraphy due to protruding mass at the base of the tongue. She was mildly hypothyroid. Te-99m pertechnetate thyroid scan was performed to rule out ectopic thyroid gland. There showed a focal area of intense tracer uptake in sublingual area, suggesting the sublingual thyroid. In addition there noted diffusely increased tracer uptake in both breasts. The patient delivered a baby 6 months prior to the scan and was on breast-feeding. Free Tc-99m pertechnetate physiologically secrets into the salivary glands, the stomach, the gastrointestinal tract, the genitourinary tract and the mammary glands and sodium-iodide symporter plays a role in the accumulation of free Tc-99m pertechnetate. We report simultaneous visualization of lactating breasts and ectopic thyroid gland in the base of the tongue.

• Journal of Interdisciplinary Genomics
• /
• v.3 no.1
• /
• pp.21-24
• /
• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Journal of Yeungnam Medical Science
• /
• v.38 no.3
• /
• pp.225-230
• /
• 2021

Background: We aimed to analyze the effectiveness of albumin to globulin ratio (AGR) in predicting postoperative febrile urinary tract infection (fUTI) after ureteroscopic lithotripsy (URS) and retrograde intrarenal surgery (RIRS). Methods: From January 2013 to May 2018, 332 patients underwent URS and RIRS. The rate of postoperative fUTI and risk factors for postoperative fUTI were analyzed using logistic regression. Patients were divided into postoperative fUTI and non-postoperative fUTI (non-fUTI) groups. AGR with other demographic and perioperative data were compared between the two groups to predict the development of fUTI after URS. Results: Of the 332 patients, postoperative fUTI occurred in 41 (12.3%). Preoperative pyuria, microscopic hematuria, diabetes mellitus, hypoalbuminemia, and hyperglobulinemia were more prevalent in the fUTI group. Patients in the fUTI group had larger stone size, lower preoperative AGR, longer operation time, and longer preoperative antibiotic coverage period. In a multivariable logistic analysis, preoperative pyuria, AGR, and stone size were independently correlated with postoperative fUTI (p<0.001, p=0.008, and p=0.041, respectively). Receiver operating curve analysis showed that the cutoff value of AGR that could predict a high risk of fUTI after URS was 1.437 (sensitivity, 77.3%; specificity, 76.9%), while the cutoff value of stone size was 8.5 mm (sensitivity, 55.3%; specificity, 44.7%). Conclusion: This study demonstrated that preoperative pyuria, AGR, and stone size can serve as prognostic factors for predicting fUTI after URS.