• Imaging Science in Dentistry
• /
• v.51 no.4
• /
• pp.351-361
• /
• 2021

Purpose: The clivus is a region in the anterior section of the occipital bone that is commonly imaged on large-volume cone-beam computed tomography (CBCT). There have been several reports of incidental clivus variations and certain pathological entities that have been attributed to the variations. This study aimed to evaluate the effects of these variations within the scope of dentistry. Materials and Methods: Medical databases (PubMed, Scopus, and Web of Science) were searched using a controlled vocabulary (clival anomalies, cone-beam CT, canalis basilaris medianus, fossa navicularis magna, clival variation). The search was limited to English language, humans, and studies published in the last 25 years. The articles were exported into RefWorks^® and duplicates were removed. The remaining articles were screened and reviewed for supporting information on variations of the clivus on CBCT imaging. Results: Canalis basilaris medianus and fossa navicularis magna were the most common anomalies noted. Many of these variations were asymptomatic, with most patients unaware of the anomaly. In certain cases, associated pathologies ranged from developmental (Tornwaldt cyst), to acquired (recurrent meningitis). While no distinct pathognomonic aspects were noted, there were unique patterns of radiographic diagnosis and treatment modalities. Most patients had a normal course of follow-up. Conclusion: Interpretation of CBCT volumes is a skill every dentist must possess. When reviewing large-volume CBCT scans, the clinician should be able to distinguish pathology from normal anatomic variations within the skull base. The majority of clivus variations are asymptomatic and will remain undetected unless incidentally noted on radiographic examinations.

• Genomics & Informatics
• /
• v.20 no.3
• /
• pp.28.1-28.7
• /
• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• Childhood Kidney Diseases
• /
• v.26 no.1
• /
• pp.63-67
• /
• 2022

Nephrocalcinosis often occurs in infants and is caused by excessive calcium or vitamin D supplementation, neonatal primary hyperparathyroidism, and genetic disorders. Idiopathic infantile hypercalcemia (IIH), a rare cause of nephrocalcinosis, results from genetic defects in CYP24A1 or SLC34A1. Mutations in CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, disrupt active vitamin D degradation. IIH clinically manifests as failure to thrive and hypercalcemia within the first year of life and usually remits spontaneously. Herein, we present a case of IIH wih CYP24A1 mutations. An 11-month-old girl visited our hospital with incidental hypercalcemia. She showed failure to thrive, and her oral intake had decreased over time since the age of 6 months. Her initial serum parathyroid hormone level was low, 25-OH vitamin D and 1,25(OH)₂ vitamin D levels were normal, and renal ultrasonography showed bilateral nephrocalcinosis. Whole-exome sequencing revealed compound heterozygous variants in CYP24A1 (NM_000782.4:c.376C>T [p.Pro126Ser] and c.1310C>A [p.Pro437His]). Although her hypercalcemia and poor oral intake spontaneously resolved in approximately 8 months, we suggested that her nephrocalcinosis and renal function be regularly checked in consideration of potential asymptomatic renal damage. Hypercalcemia caused by IIH should be suspected in infants with severe nephrocalcinosis, especially when presenting with failure to thrive.

• Imaging Science in Dentistry
• /
• v.52 no.4
• /
• pp.429-434
• /
• 2022

Supernumerary teeth that are present in the molar region may be evident based on crowding and impaction, but most cases are asymptomatic and discovered as incidental findings during routine radiological examinations. This article reports the case of a 29-year-old woman who presented with a severe feeling of pressure in the region of the maxillary third molars that had been increasing in intensity for weeks. A clinical examination revealed crowding of the maxillary anterior teeth despite the completion of orthodontic treatment and an erupted third molar with localized gingivitis in the second quadrant. A radiographic examination revealed bilateral supernumerary maxillary fourth and fifth molars, so cone-beam computed tomography was performed to locate the supernumerary teeth precisely for a preoperative diagnosis and comprehensive treatment planning. This report presents the radiological and surgical case management of a rare case of bilateral supernumerary molars and reviews the literature regarding epidemiology and treatment options.

• Journal of Medicine and Life Science
• /
• v.20 no.1
• /
• pp.48-52
• /
• 2023

High-grade serous carcinoma (HGSC) is the most common type of pelvic cancer among women. Serous tubal intraepithelial carcinoma (STIC) is a precursor lesion of HGSC. Herein, we report a rare occurrence of STIC in patients undergoing surgery for benign indications without a family history of ovarian cancer. A 77-year-old woman underwent total laparoscopic hysterectomy and bilateral salpingo-oophorectomy for uterine prolapse. Pathological examination revealed bilateral STIC without ovarian abnormalities, and no other abnormal findings were noted. Another patient, a 49-year-old woman, underwent laparoscopic total hysterectomy and bilateral salpingectomy for uterine fibroids. STIC lesions were observed in both fallopian tubes. Subsequently, a staging was performed. No additional lesions were found, and the patient was followedup through imaging and blood tests. As reports of STIC lesions are rare, data on their clinical outcomes and management strategies are limited. In this report, we present cases of incidental STIC in benign surgery and discuss its proper interpretation and management. Through the early detection of STIC lesions, patients with risk factors can be identified in advance, which will allow prevention and early detection of ovarian cancer. Opportunistic salpingectomy was also actively discussed in this regard.

• Development and Reproduction
• /
• v.27 no.1
• /
• pp.47-56
• /
• 2023

Despite the commercialization of Next generation sequencing (NGS) gene testing, only a few studies have addressed the various ethical and legal problems associated with NGS testing in Korea Here, we reviewed the normative issues that emerged at each stage of the wet analysis and bioinformatics analysis of NGS gene testing. In particular, it was in mind to apply various international guidelines and the principles of bioethics to actual clinical practice. Considering the characteristics of NGS testing, wet analysis of additional testing can be justified if presumptive consent is recognized. Furthermore, the medical relationship between diseases needs to be established and it should be clear that the patient would have given consent if the patient had been aware of the correlation between genes. At the stage of bioinformatics analysis, the question of unsolicited findings arises. In case of unsolicited and relevant findings, according to American College of Medical Genetics and Genomics (ACMG), a recognized relationship between genes and diseases needs to be established. In case of unsolicited and not-relevant findings, it is almost impossible to determine whether knowing or not knowing the findings is more beneficial to the patient. However, it seems to be certain that the psychological harm an individual may suffer from such information is likely to be greater if the disease is severe and if there is no cure. The list of genes for which the ACMG guidelines impose reporting obligations is a good reference for judgment.

• Korean Journal of Otorhinolaryngology-Head and Neck Surgery
• /
• v.55 no.3
• /
• pp.173-176
• /
• 2012

Oncocytic neoplasm of the head and neck region accounts for approximately 1% of all salivary gland tumors, but only 5% of oncocytic neoplasm is malignant. Oncocytic carcinoma arising in the submandibular gland is exceedingly rare. We encountered a sixty seven-year-old male patient who presented with multiple mass in the right neck. Fine needle aspiration biopsy revealed a salivary gland tumor of predominantly oncocytic form, and a differential diagnosis included oncocytic adenoma or mucoepidermoid carcinoma. A right submandibular gland resection and modified radical neck dissection were performed. Histologically, the tumor cells showed nuclear pleomorphism, and stromal invasion, which were compatible with oncocytic carcinoma. After surgery, the entire neck region was irradiated. Seventeen months after the initial surgery, multiple metastases to the bone and lung were detected from the incidental pathologic bone fracture of the right humerus; palliative chemotherapy was performed to resolve this. We report a case of oncocytic carcinoma in the submandibular gland with a review of literature.

• Journal of Veterinary Science
• /
• v.25 no.1
• /
• pp.7.1-7.7
• /
• 2024

Background: Infections of cats with Echinococcus granulosus is uncommon because the cat is not part of the parasite life cycle that a carnivorous and another herbivore represent. Nevertheless, it occurs incidentally when eating food or drinking water contaminated with the worm's larva, especially with the presence of the definitive host (dogs), in this case, the infections are concentrated in stray or outside cats. For this reason, this study examined the possibility of cat infection with E. granulosus and diagnosed the common genotype of this infection. Objective: This study examined the possibility of cat infection with E. granulosus and diagnosed the common genotype of this infection. Methods: Four of the 37 cats that had died in different accidents developed cystic echinococcosis (CE). The cytochrome c oxidase subunit I (COX1) gene was initially amplified and sequenced to determine if these cysts belonged to E. granulosus, in beginning. The DNA fragments resulting from sequencing were then compared and aligned with other sequences using the Gene Bank database. Finally, a phylogenetic tree was drawn according to the sequence data obtained from cox1 genes sequencing, and the MEGA 7.0 phylogenetic analysis program was utilized. Results: Four different sequences were deposited in the Gen Bank with accession numbers (ON795961 to ON795964), all of which belong to the G1 genotype. Approximately 84% and 100% of these sequences aligned with G1 (AB622277.1) and G1 (MG722980.1), respectively. Conclusions: G1 is the dominant genotype that causes cat infections, even though the cat's EC infection was incidental.

• The Journal of Korean Medical History
• /
• v.34 no.1
• /
• pp.11-22
• /
• 2021

In this study, we examine Cho Heon-yeong's medical theory in obstetrics and gynecology by looking at the contents and prescriptions of 『Buinbyeongchiryobeob (婦人病治療法)』. This book is a clinical text on obstetrics and gynecology written in the 1940's. This book consists of an Introduction, Jeungchi (證治), Yangjinhanchi (洋診漢治), Cheobangnonhae (處方論解) and refers to 『Donguibogam(東醫寶鑑)』, 『Keongakjeonseo (景岳全書)』, 『Junguihaksajeon (中醫學辭典)』, 『Jejungsinpyeon (濟衆新編)』, 『Uihakipmun (醫學入門)』 and 『UijongKeumkam (醫宗金鑑)』. Cho Heon-yeong's theory in this book has the following characteristics. First, his medical eclecticism is centered on Korean Medicine, with incidental use of Western medicine. Second, he regarded weakness (虛證) as a vital factor in obstetrics and gynecology. Third, he added "mental state" to the list of basic physiological characteristics of women. Fourth, he presented a new diagnostic standard based on a spectrum of fire (火) and cold (冷). There are 363 prescriptions in this book, and 171 of them are from 『Donguibogam (東醫寶鑑)』. The books frequently used prescriptions are all designed to supplement (補藥). There are 48 prescriptions that original to Cho Heon-yeong. Additionally, this book contains eopsaeng (攝生) and pretended stimulation therapies and exercise methods.

• Journal of the Korean Society of Radiology
• /
• v.81 no.6
• /
• pp.1511-1516
• /
• 2020

The anomalous retro-psoas iliac artery is an extremely rare congenital iliolumbar vascular anomaly. A 51-year-old woman presented to our emergency department with worsening right lower extremity pain and weakness for 3 months. CT angiography of the right lower extremity showed no evidence of stenosis in the lower extremity arteries and the incidental finding of an anomalous right retro-psoas iliac artery. Herein, we report a rare case of anomalous retro-psoas iliac artery. Surgeons and clinicians need to be aware of this rare congenital anomaly to avoid severe complications during pelvic or orthopedic surgery.