Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited with autosomal dominant pattern, which has been mostly described in reports from Japan. Recently, DRPLA proved to be associated with an expanded CAG nucleotide report in a gene on chromosome 12p. We report the first Korean family with this mutation, which was confirmed by genetic analysis. Case History : A 34 year-old man present ad with a 5 year history of clumsiness, seizures, and gait ataxia. He had dysarthria, clumsiness of hands, gait ataxia and intermittent choreic movements in both arms. There was mild cognitive impairment. EEG showed intermittent generalized slowing, and brain MRI revealed diffuse cerebral and cerebellar atrophy with enlarged 4th ventricle. There were three other affected family members; his 37-year old sister presented with choreiform movements developed at the age of 31. His father and uncle were reported to have been ataxic during the late period of their life, who died at age of 65 and 40 respectively. DNA studies of the prebend and his sister confirmed CAG repeat expansiom in the DRPLA gene, the size of which was 64 and 66, respectively. CONCLUSION: This is the first Korean family with DRPLA, and it should be considered in any patients with inherited neurodegenerative disorder with the above-mentioned clinical features
Adult ; Arm ; Atrophy* ; Brain ; Chorea ; DNA ; Dysarthria ; Electroencephalography ; Fathers ; Gait Ataxia ; Genes, vif ; Hand ; Humans ; Japan ; Magnetic Resonance Imaging ; Mild Cognitive Impairment ; Neurodegenerative Diseases ; Seizures ; Siblings

Purpose: To evaluate the effect of the Active Sentry handpiece of the Centurion Vision System compared to the Centurion Ozil handpiece for phacoemulsification in cataract surgery. Methods: A retrospective study was conducted on 281 patients (449 eyes) who underwent cataract surgery between August 2020 and June 2021. Preoperative measurements, intraoperative parameters, complication rate, and postoperative outcomes were compared between the Active Sentry handpiece and the Centurion Ozil handpiece groups. Additionally, the parameters were compared in different cataract severity groups and multiple predictive factors for the number of active surge mitigation (ASM) actuations were assessed with the Active Sentry handpiece. Results: There were 198 eyes in the Active Sentry group and 251 eyes in the Centurion Ozil group. There were no statistically significant differences between the two groups, as the cumulative dissipated energy in the Active Sentry and Centurion Ozil groups were 8.32 ± 7.74 and 7.87 ± 9.25 μJ, respectively (p = 0.576). Total surgery time, ultrasound usage time, aspiration time, amount of fluid aspirated, postoperative corrected distant visual acuity, and postoperative decrease in corneal endothelial cell density were comparable between the two groups. The significant contributors to the number of ASM actuations were age, preoperative corrected distant visual acuity, axial length, and total ultrasound time. Conclusions There was no clear advantage of the Active Sentry handpiece compared to the Centurion Ozil handpiece. ASM actuation increases with age, poor visual acuity before surgery, short axial length, and prolonged ultrasound usage time. It is expected that in more severe and high-risk cataract surgery, the Active Sentry handpiece functions more effectively, possibly affecting the safety and prognosis.

Background: This study analyzed the practice of dental medical dispute prevention rules of dental hygienists to present an improvement plan for improving perceived importance and practice and provide data for the development of effective medical dispute prevention programs. Methods: A self-administered questionnaire survey was conducted targeting dental hygienists who were providing assistance at dental hospitals and dental clinics in Seoul and Gyeonggi-do regions from March 22 to April 28, 2022. The questionnaire collected from 273 dental hygienists consisted of eight questions on general characteristics, 30 questions on medical dispute experience, and 14 questions on medical dispute prevention. Results: Complaints showed a high experience rate in ‘Consultation & reservation’, medical disputes in ‘Patient handling (unkind) related’, and ‘Prosthesis installation and cement removal’. In both the importance and practice of medical dispute prevention rules, Preservation of medical records and other medical-related data’ was high, and ‘Management of patients on standby for a long time’was low in terms of practice. ‘Lack of time’ and ‘Lack of manpower’ were cited as reasons for not resolving dental treatment disputes. The importance of dental dispute prevention rules was found to be significant according to age and position, and it was also found to affect the level of practice. Conclusion Seventy-six-point six percent of the respondents said that education on the prevention of medical disputes was necessary, although they lacked recognition of prevention rules compared to their perceptions and experiences. This study suggested specifying prevention rules in dental hygiene subjects and expanding education, improvement of dental treatment system, revise the law on the range of work to improve the recognition and practice of prevention rules.

Gastric tuberculosis is a rare disease and is usually secondary to pulmonary or intestinal tuberculosis. Only a few cases of gastric tuberculosis have been reported in the literature. In most cases, gastric tuberculosis exists as an ulcerating lesion, whereby the clinical symptom is non-specific and similar to that of a peptic ulcer. The diagnosis af gastric tuberculosis is based on either positive histological or bacteriological study. Submucasal tumors resembling gastric tuberculosis has been reported extremely rare in incidence. In this study we report a case of a young woman admitted with intermittent abdominal pain due to gastric tuberculosis presenting as submucosal tumor in the greater curvature of the lower body. After gastric resection, a histological examination revealed chronic granulomatous inflammation with caseation necrosis which is consistent with tuberculosis. There was no evidence of the tuberculous lesion anywhere else. The patient was put on antituberculosis medications. The patient's follow-up observation in the clinic was uneventful.
Abdominal Pain ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Incidence ; Inflammation ; Necrosis ; Peptic Ulcer ; Rare Diseases ; Tuberculosis* ; Ulcer

Anisakiasis of the gastrointestinal tract is caused by the ingestion of raw fish or uncooked foods infested with Anisakis larvae belonging to the subfamily Anisakidae. With the increasing popularity of Japanese cuisine such as sashimi in Korea, the incidence of anisakiasis is expected to increase. The entire gastrointestinal tract from the esophagus to the rectum can be involved. Colonic anisakiasis is rare in comparison with gastric involvement. We report the anisakiasis concurrently invading the stomach, ileocecal valve and transverse colon treated by endoscopy with a brief review of the relevant literature.
Anisakiasis* ; Anisakis ; Asian Continental Ancestry Group ; Colon ; Colon, Transverse* ; Eating ; Endoscopy ; Esophagus ; Gastrointestinal Tract ; Humans ; Ileocecal Valve* ; Incidence ; Korea ; Larva ; Rectum ; Stomach*

BACKGROUND AND OBJECTIVES: It has been demonstrated that the anomalous origin of coronary arteries (AOCA) are generally asymptomatic and rare diseases. However, some cases can cause severe life threatening events. To detect these anomalies, coronary angiographies and autopsies were used to detect coronary artery anomalies, but these procedures have limitations because of their invasiveness. The new device, Multidetector Computed Tomography (MDCT), now replaces the method of choice for detecting coronary anomalies. The prevalence of these anomalies in Korea has not been studied yet. This present analysis attempted to determine the prevalence of AOCA in Korean men by MDCT. SUBJECTS AND METHODS: 1582 Korean male police officers underwent coronary MDCT for their health screening voluntarily. After reconstruction of CT images, we could confirm coronary artery anomalies. RESULTS: The prevalence of AOCA in Korean men was 1.14% (18 out of 1582 cases). The most common abnormality (11 cases, 0.70%) was the origin of the coronary artery. Anomalies of the coronary artery end point were observed in 5 cases (0.32%). The anomalous location of coronary ostium on the aortic root was observed in 1 case (0.06%). An anomalous collateral vessel was observed in 1 case (0.06%). CONCLUSION: The prevalence of coronary artery anomalies in Korean men was 1.14%. Coronary CT is a safe and noninvasive modality for detecting coronary anomalies.
Autopsy ; Coronary Angiography ; Coronary Vessel Anomalies ; Coronary Vessels ; Humans ; Korea ; Male ; Mass Screening ; Multidetector Computed Tomography ; Police ; Prevalence ; Rare Diseases

Mucormycosis, caused by Zygomycetes fungi of the order Mucorales, is a rare opportunistic infection which usually develops in immunosuppressed patients, especially in patients with diabetic acidosis. This infection, associated with the presence of broad, nonseparate hyphae in tissue, originates usually in the perinasal sinuses and nose, orbit, central nervous system, lung, skin, soft tissue, or gastrointestinal tract, but is occasionally disseminated from the primary location to other areas. Recently we experienced a case of Mucormycosis found in the breast of a 70-year old woman undergoing hemodialysis for diabetic nephropathy. The patients was very poor in her systemic condition. On physical examination, we found the subcutaneous mass in the left breast. Breast ultrasonography showed a mass with a relatively clear boundary in subcutaneous fatty layer and excisional biopsy confirmed infiltration of breast tissue by fungal hyphae. With improvement of patient's malnutrition via an aggressive hemodialysis, control of blood glucose and total parentral nutrition, the mass was slightly reduced in size and maintained without causing any notable symptom. Since Mucormycosis found in the breast tissue has not been reported in the literature yet, we report its case observed in a hemodialysis patient for diabetic nephropathy with the review of the literatures.
Aged ; Biopsy ; Blood Glucose ; Breast* ; Central Nervous System ; Diabetic Ketoacidosis ; Diabetic Nephropathies* ; Female ; Fungi ; Gastrointestinal Tract ; Humans ; Hyphae ; Lung ; Malnutrition ; Mucorales ; Mucormycosis* ; Nose ; Opportunistic Infections ; Orbit ; Physical Examination ; Renal Dialysis* ; Skin ; Ultrasonography, Mammary

BACKGROUND/AIMS: Helicobacter pylori (H. pylori) transmission route is not yet clearly understood. Isolating H. pylori from stool, saliva, and vomitus is very difficult. However, H. pylori could be cultured from feces in the setting of rapid gastrointestinal tract transit. The aim of this study was to isolate H. pylori by culture and PCR in the rectum and terminal ileum during colonoscopy. METHODS: Twenty subjects with positive UBT (urea breath test) were included. We performed polymerase chain reaction (PCR) test and culture of H. pylori with the rectal fluid and terminal ileal fluid during colonoscopy. RESULTS: H. pylori was cultured with rectal fluid from 9 (45.0%) of 20 subjects and with ileal fluid from 11 (55.0%) of 20 subjects. H. pylori was a little more frequently cultured from the terminal ileal fluid than the rectal fluid without statistical significance (p>0.05). PCR test detected flaA (16/20, 80.0% and 17/20, 85.0%), 16S rRNA gene (16/20, 80.0% and 17/20, 85.0%), cagA (10/20, 50.0% and 12/20, 60.0%), and ureC (9/20, 45% and 11/20, 54.5%) from the rectal fluid and the terminal ileal fluid, respectively. The specificity and sensitivity of ureC were 100%. CONCLUSIONS: H. pylori could be cultured from the rectal fluid and terminal ileal fluid in the setting of rapid gastrointestinal tract transit. These results suggest of fecal-oral transmission of H. pylori.
Adult ; Antigens, Bacterial/genetics ; Bacterial Proteins/genetics ; Breath Tests ; Electrolytes/administration & dosage ; Feces/microbiology ; Female ; Helicobacter Infections/*diagnosis/transmission ; Helicobacter pylori/genetics/*isolation & purification ; Humans ; Ileum/*microbiology ; Male ; Middle Aged ; Polyethylene Glycols/administration & dosage ; Polymerase Chain Reaction ; RNA, Ribosomal, 16S/genetics ; Rectum/*microbiology ; Sensitivity and Specificity ; Urea/analysis ; Urease/genetics

BACKGROUND: Coronary artery spasm plays an important role in the pathogenesis of variant angina. However the precise mechanism (s) and the clinical characteristics of variant angina remain to be elucidated. We investigated the clinical characteristics and diagnostic features of variant angina. METHODS: The clinical characteristics and coronary angiographic findings were analyzed in 178 patients with angiographically documented coronary artery spasm, which developed spontaneously or was provoked by the admistration of intravenous ergonovine maleate. All patients were followed for at least 1 year or more or until their death. RESULTS: One hundred and eleven patients complained of chest pain which developed especially at night and in the early morning. One hundred and thirty three patients (74.7%) were smokers. The electrocardiographic findings at the time of admission showed no changes in 147 cases (82.6%), testes showed ST segment elevation in 22 cases (12.4%), ST segment depression in 2 cases (1.1%), T wave inversion in 7cases (3.9%). The treadmill test was performed in 135 cases, ST segment elevation was noted in 6 patients (4.4%) and ST segment depression in 18 patients (13.3%). All of the other results were within normal range. The ergonovine provovative tests for coronary spasms were safe and effective. The right coronary artery was the most prevalent site of coronary artery spasm. Drug treatment was applied initially to all patients, but only 115 patients (64.5%) received the follow-up. Of these three died from cardiac arrest. The rate of cardiac death was low (1.7%) in patient, which made it difficult to know the risk factors for the cardiac deaths. Two (1.1%) had cardiac arrest. They didn`t take any medication. Patients with variant angina usually responded well to nitrates and calcium antagonists. Thus nitrates and calcium antagonists are useful in preventing attacks and abolished attacks of variant angina. CONCLUSION: In this study, 13.2% of coronary artery disease was variant angina. The effectiveness of drug therapy and the prognosis of the patients was quite good in the group. But when chest pain happens, the adequate use of nitrate agents is needed because of cardia arrest or cardiac death in 2.8% of the patients.
Calcium ; Cardia ; Chest Pain ; Coronary Artery Disease ; Coronary Vessels ; Death ; Depression ; Drug Therapy ; Electrocardiography ; Ergonovine ; Exercise Test ; Follow-Up Studies ; Heart Arrest ; Humans ; Nitrates ; Prognosis ; Reference Values ; Risk Factors ; Spasm ; Testis