Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression. In the Republic of Korea, we established a registry across 5 centers that focuses on 3 rare diseases, all of which are characterized by gait disturbances resulting from motor system dysfunction. The registry will collect clinical information and human bioresources from patients with amyotrophic lateral sclerosis, spinocerebellar ataxia, and hereditary spastic paraplegia. These resources will be stored at ICreaT and the National Biobank of Korea. Once the registry is complete, the data will be made publicly available for further research. Through this registry, our research team is dedicated to identifying genetic variants that are specific to Korean patients, uncovering biomarkers that show a strong correlation with clinical symptoms, and leveraging this information for early diagnosis and the development of treatments.

Diabetes mellitus is a major risk factor for the development of heart failure. Furthermore, the prognosis of heart failure is worse in patients with diabetes mellitus than in those without it. Therefore, early diagnosis and proper management of heart failure in patients with diabetes mellitus are important. This review discusses the current criteria for diagnosis and screening tools for heart failure and the currently recommended pharmacological therapies for heart failure. We also highlight the effects of anti-diabetic medications on heart failure.

Primary aldosteronism (PA) is a common, yet underdiagnosed cause of secondary hypertension. It is characterized by an overproduction of aldosterone, leading to hypertension and/or hypokalemia. Despite affecting between 5.9% and 34% of patients with hypertension, PA is frequently missed due to a lack of clinical awareness and systematic screening, which can result in significant cardiovascular complications. To address this, medical societies have developed clinical practice guidelines to improve the management of hypertension and PA. The Korean Endocrine Society, drawing on a wealth of research, has formulated new guidelines for PA. A task force has been established to prepare PA guidelines, which encompass epidemiology, pathophysiology, clinical presentation, diagnosis, treatment, and follow-up care. The Korean clinical guidelines for PA aim to deliver an evidence-based protocol for PA diagnosis, treatment, and patient monitoring. These guidelines are anticipated to ease the burden of this potentially curable condition.

Purpose: K-MASTER project is a Korean national precision medicine platform that screened actionable mutations by analyzing next-generation sequencing (NGS) of solid tumor patients. We compared gene analyses between NGS panel from the K-MASTER project and orthogonal methods. Materials and Methods: Colorectal, breast, non–small cell lung, and gastric cancer patients were included. We compared NGS results from K-MASTER projects with those of non-NGS orthogonal methods (KRAS, NRAS, and BRAF mutations in colorectal cancer [CRC]; epidermal growth factor receptor [EGFR], anaplastic lymphoma kinase [ALK] fusion, and reactive oxygen species 1 [ROS1] fusion in non–small cell lung cancer [NSCLC], and Erb-B2 receptor tyrosine kinase 2 (ERBB2) positivity in breast and gastric cancers). Results: In the CRC cohort (n=225), the sensitivity and specificity of NGS were 87.4% and 79.3% (KRAS); 88.9% and 98.9% (NRAS); and 77.8% and 100.0% (BRAF), respectively. In the NSCLC cohort (n=109), the sensitivity and specificity of NGS for EGFR were 86.2% and 97.5%, respectively. The concordance rate for ALK fusion was 100%, but ROS1 fusion was positive in only one of three cases that were positive in orthogonal tests. In the breast cancer cohort (n=260), ERBB2 amplification was detected in 45 by NGS. Compared with orthogonal methods that integrated immunohistochemistry and in situ hybridization, sensitivity and specificity were 53.7% and 99.4%, respectively. In the gastric cancer cohort (n=64), ERBB2 amplification was detected in six by NGS. Compared with orthogonal methods, sensitivity and specificity were 62.5% and 98.2%, respectively. Conclusion The results of the K-MASTER NGS panel and orthogonal methods showed a different degree of agreement for each genetic alteration, but generally showed a high agreement rate.

Objectives: This study aimed to evaluate the effects of a toothpaste containing sodium pyrophosphate and a high concentration (1,450 ppm) of fluoride on dental plaque, gingivitis index, and calculus index in a clinical trial. Methods: This study used an eight-week, randomized, double-blinded, controlled, comparative, parallel design. The participants, who voluntarily signed a consent form, were screened through visit evaluation if they met the selection/exclusion criteria. After a one-week run-in period, the selected participants were randomly assigned to either an experimental or control group in the order of their enrollment. Subsequently, the participants were asked to brush their teeth with the study toothpaste using the rolling method for 3 min, thrice daily, for 8 weeks. Oral examinations were performed at baseline and after 3 weeks, 4 weeks, and 8 weeks. Evaluation of papillary marginal attachment index (PMA index), Talbott’s gingival index, patient hygiene performance index (PHP index), Turesky plaque index, and calculus index were performed during the oral examination. Results: After 8 weeks, the PMA indices were 7.12 for the control group and 5.00 for experimental groups. In addition, the PHP index was 2.06 for the control group and 1.66 for the experimental group. Significant differences were observed between the control and experimental groups in all indice (P<0.05). Conclusions This study shows that using a toothpaste containing sodium fluoride, sodium pyrophosphate, tocopherol acetate, and dental-type silica improves dental plaque removal, reduces gingivitis, and inhibits calculus formation.

Background: Numerous patients around the globe are dying from coronavirus disease 2019 (COVID-19). While age is a known risk factor, risk analysis in the young generation is lacking. The present study aimed to evaluate the clinical features and mortality risk factors in younger patients (≤ 50 years) with a critical case of COVID-19 in comparison with those among older patients (> 50 years) in Korea. Methods: We analyzed the data of adult patients only in critical condition (requiring high flow nasal cannula oxygen therapy or higher respiratory support) hospitalized with PCR-confirmed COVID-19 at 11 hospitals in Korea from July 1, 2021 to November 30, 2021 when the delta variant was a dominant strain. Patients’ electronic medical records were reviewed to identify clinical characteristics. Results: During the study period, 448 patients were enrolled. One hundred and forty-two were aged 50 years or younger (the younger group), while 306 were above 50 years of age (the older group). The most common pre-existing conditions in the younger group were diabetes mellitus and hypertension, and 69.7% of the patients had a body mass index (BMI) > 25 kg/m 2 .Of 142 younger patients, 31 of 142 patients (21.8%, 19 women) did not have these pre-existing conditions. The overall case fatality rate among severity cases was 21.0%, and it differed according to age: 5.6% (n = 8/142) in the younger group, 28.1% in the older group, and 38% in the ≥ 65 years group. Age (odds ratio [OR], 7.902; 95% confidence interval [CI], 2.754–18.181), mechanical ventilation therapy (OR, 17.233; 95% CI, 8.439–35.192), highest creatinine > 1.5 mg/dL (OR, 17.631; 95% CI, 8.321–37.357), and combined blood stream infection (OR, 7.092;95% CI, 1.061–18.181) were identified as independent predictors of mortality in total patients.Similar patterns were observed in age-specific analyses, but most results were statistically insignificant in multivariate analysis due to the low number of deaths in the younger group.The full vaccination rate was very low among study population (13.6%), and only three patients were fully vaccinated, with none of the patients who died having been fully vaccinated in the younger group. Seven of eight patients who died had a pre-existing condition or were obese (BMI > 25 kg/m 2 ), and the one remaining patient died from a secondary infection. Conclusion About 22% of the patients in the young critical group did not have an underlying disease or obesity, but the rate of obesity (BMI > 25 kg/m2 ) was high, with a fatality rate of 5.6%. The full vaccination rate was extremely low compared to the general population of the same age group, showing that non-vaccination has a grave impact on the progression of COVID-19 to a critical condition. The findings of this study highlight the need for measures to prevent critical progression of COVID-19, such as vaccinations and targeting young adults especially having risk factors.

OBJECTIVES: The purpose of this study was to investigate the job satisfaction level of the dental staff working at oral health centers for people with disabilities. METHODS: A questionnaire survey was conducted with 73 dentists and dental hygienists working at seven regional oral health centers for people with special needs and dental hospitals for people with disabilities in Seoul. The questionnaire consisted of seven questions across two subscales: general satisfaction (4 questions) and satisfaction with wage and welfare (3 questions). The internal consistency of the questionnaire items was assessed using Cronbach's alpha (0.80). The responses were analyzed using a t-test with SPSS (version 23.0). RESULTS: Of the 73 dental staff members, 50% were dentists, 64% were women, and participants' average age was 30 years. In total, 58% of the participants had up to five years of experience working with people with disabilities, 42% of them worked full-time, and each participant treated an average of 200 patients with disabilities per month. The participants reported that their salary was relatively low. Dental hygienists had higher satisfaction level than dentists in the institution's welfare work. The more full-time workers answered, the more suitable they are for their work. CONCLUSIONS: The job satisfaction level of most professionals working in oral health centers for people with disabilities was not very high but they felt rewarded by their welfare work. It was inferred that it is necessary to examine and improve institutional support aspects such as human resource support. Increasing the number of centers in the central region is also needed.
Dental Hygienists ; Dental Staff ; Dentists ; Disabled Persons ; Female ; Humans ; Job Satisfaction ; Oral Health ; Reward ; Salaries and Fringe Benefits ; Seoul

A 56-year-old male with a gastrointestinal stromal tumor (GIST) underwent surgical resection of the tumor. Nine months after surgery, imatinib therapy was initiated because of the discovery of metastatic tumors in the left adrenal gland and in a lymph node of the peritoneum. Seventeen months later, the patient achieved complete remission (CR) and imatinib therapy was continued. However, 48 months after initiation of imatinib therapy, computed tomography scans revealed a left adrenal gland metastasis and the patient underwent left adrenalectomy. Immunohistochemical staining indicated that the spindle-shaped cells of the resected tumor were positive for C-kit, thus confirming metastasis of the GIST. This is the first report from Korea of an adrenal gland metastasis from a GIST. Worldwide, only two such cases have been reported. Here, we describe the first case of a distant recurrence of a GIST in the left adrenal gland after CR had been achieved with the aid of surgical resection and imatinib therapy.
Adrenal Glands* ; Adrenalectomy ; Gastrointestinal Stromal Tumors* ; Humans ; Imatinib Mesylate ; Korea ; Lymph Nodes ; Male ; Middle Aged ; Neoplasm Metastasis* ; Peritoneum ; Recurrence

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.
Aortic Valve Stenosis ; Asia* ; Balloon Valvuloplasty ; Bradycardia ; Echocardiography ; Emergencies ; Fetal Heart ; Fetal Therapies ; Follow-Up Studies ; Humans ; Hypoplastic Left Heart Syndrome ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis

BACKGROUND: Chronic kidney disease is considered a risk factor for thyroid nodules as well as thyroid dysfunction such as hypothyroidism. Among patients on hemodialysis, we assessed the size of thyroid nodule and goiter at baseline and 1 year later with ultrasonography. METHODS: We prospectively selected 47 patients with hemodialysis at January 2012 and reviewed their medical records. We checked goiter and thyroid nodules at January 2012 and December 2012. RESULTS: In the hemodialysis patients (n=47), 24 patients (51.1%) had thyroid nodules and 33 patients (70.2%) had goiter at baseline. Parathyroid hormone (PTH) was higher in patients with thyroid nodules (204.4±102.9 vs. 129.9±93.6 pg/mL, p=0.01). Thyroid ultrasonography was conducted in 29 patients after 1 year. The thickness of the thyroid isthmus increased (2.8±1.6 vs. 3.2±1.9 mm, p=0.003), but the number of nodules did not change (1.2±1.9 vs. 1.4±2.0, p=0.109). PTH was associated with the enlargement of thyroid nodules significantly through logistic regression analysis. CONCLUSION: Thyroid goiter and nodules in hemodialysis patients were more prevalent than in the general population. PTH influenced the production of thyroid nodules in hemodialysis patients. Regular examination with thyroid ultrasonography and thyroid function test should be considered in hemodialysis patients.
Follow-Up Studies* ; Goiter ; Humans ; Hypothyroidism ; Logistic Models ; Medical Records ; Parathyroid Hormone ; Prospective Studies ; Renal Dialysis* ; Renal Insufficiency, Chronic ; Risk Factors ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Nodule ; Ultrasonography*