• Journal of Preventive Medicine and Public Health
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• v.55 no.1
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• pp.60-67
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• 2022

Objectives: This study investigated the determinants of undiagnosed hypertension among Indonesian adults. Methods: This study involved an analysis of secondary data from the 2014 Indonesia Family Life Survey (IFLS) on 5914 Indonesian adults (≥40 years). The determinant variables examined in this cross-sectional study were education level, monthly per capita expenditures (PCE), whether the participant experienced headaches in the morning, and other general health variables. The outcome variable was undiagnosed hypertension, which was defined as participants with hypertension who had not received a hypertension diagnosis from a health professional and had never been prescribed medication for treating hypertension. The data were analyzed using logistic regression. Results: A total of 3322 participants (56.2%) were found to have undiagnosed hypertension. The odds ratios (ORs) and 95% confidence intervals (CIs) of undiagnosed hypertension were significantly higher among those who completed primary school or lower (OR, 1.60; 95% CI, 1.29 to 1.98), had low monthly PCE (OR, 1.28; 95% CI, 1.13 to 1.43), did not report experiencing headaches in the morning (OR, 1.97; 95% CI, 1.76 to 2.21), and reported a general health status of healthy (OR, 2.05; 95% CI, 1.82 to 2.30) than those who had a higher education level, had high monthly PCE, experienced headaches in the morning, and were unhealthy. Conclusions: Education level, monthly PCE, the experience of headaches in the morning, and general health status were associated with undiagnosed hypertension. The monitoring system for detecting undiagnosed hypertension cases must be strengthened. Health promotion is also necessary to reduce the prevalence of undiagnosed hypertension.

• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.77-85
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• 2017

Purpose: Fever is one of the most common symptoms in children. In previous studies, infectious disease was the most common cause of pediatric fever of unknown origin (FUO). The aim of this study is to investigate the etiology, clinical characteristics and prognosis of pediatric FUO in 21 century with more diagnostics available and to analyze the factors for certain disease categories. Methods: Among the children under 18 years old who were hospitalized at Samsung Medical Center from January 2000 to December 2014, the patients who met the criteria including fever of ${\geq}38.0^{\circ}C$ for longer than ${\geq}14days$ and failure to reach a diagnosis after one week of investigations were included. Results: Total 100 patients were identified. Confirmed diagnosis was achieved in 57 patients (57%). Among them, infectious diseases (n=19, 19%) were most common, followed by connective tissue diseases (n=15, 15%), necrotizing lymphadenitis (n=8, 8%), and malignancies (n=7, 7%). Children with fever duration over 28 days had a trend for higher frequency of connective tissue diseases (28.3%) except undiagnosed etiology. The symptoms such as arthritis, lymph node enlargement and only fever without other symptoms were significantly related with connective tissue diseases, necrotizing lymphadenitis and undiagnosed respectively (P<0.001). Ninety-two patients have become afebrile at discharge and 1 patient died (1%). Conclusion: Almost half of our patients were left without diagnosis. Although it has been known that infectious disease was most common cause of pediatric FUO in the past, undiagnosed portion of FUO have now increased due to development of diagnostic techniques for infectious diseases.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.31-38
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• 2023

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.76-84
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• 2022

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.46 no.1
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• pp.70-77
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• 2020

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.

• Journal of Chest Surgery
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• v.17 no.3
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• pp.522-530
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• 1984

During a 12-month period, 31 patients underwent diagnostic and therapeutic thoracoscopy for previously undiagnosed thoracic diseases. In all patient, the diagnosis had been unobtainable by the usual diagnostic modalities of thoracentesis, closed pleural biopsy, bronchoscopy, or mediastinoscopy. The patients ranged from 4 years to 84 years old. One procedure was performed for mediastinal mass, 8 for parenchymal lesions, 21 for pleural diseases, and 1 for diaphragmatic disease. A correct diagnosis was obtained by thoracoscopy in 31 procedures for a 90% overall accuracy rate. There was no clinically significant morbidity in this series and no procedure-related mortality. Thoracoscopy, performed under intercostal nerve block and regional anesthesia, has proved to be a very attractive method of the diagnosis of thoracic disease.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.39-45
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• 2023

As advanced sequencing technologies continue to uncover an increasing number of variants in genes associated with human genetic diseases, there is a growing demand for systematic approaches to assess the impact of these variants on human development, health, and disease. While in silico analyses have provided valuable insights, it is essential to complement these findings with model organism studies to determine the functional consequences of genetic variants in vivo. Drosophila melanogaster is an excellent genetic model for such functional studies due to its efficient genetic technologies, high gene conservation with humans, accessibility to mutant fly resources, short life cycles, and cost-effectiveness. The traditional GAL4-UAS system, allowing precise control of gene expression through binary regulation, is frequently employed to assess the effects of monoallelic variants. Recombinase medicated cassette exchange or CRISPR-Cas9-mediated GAL4 insertion within coding introns or substitution of gene body with Kozak-Gal4 result in the loss-of-function of the target gene. This GAL4 insertion strategy also enables the expression of reference complementary DNA (cDNA) or cDNA carrying genetic variants under the control of endogenous regulatory cis elements. Furthermore, the CRISPR-Cas9-directed tissue-specific knockout and cDNA rescue system provides the flexibility to investigate candidate variants in a tissue-specific and/or developmental-timing dependent manner. In this review, we will delve into the diverse genetic techniques available in Drosophila and their applications in diagnosing and studying numerous undiagnosed diseases over the past decade.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.4
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• pp.271-277
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• 2018

Purpose: Familial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF. Methods: Patient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212). Results: No different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p<0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1-84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p<0.05, OR: 11 and 95% CI: 0.8-147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms. Conclusion: Patients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.

• Journal of Korean Medical Science
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• v.33 no.46
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• pp.304.1-304.7
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• 2018

Background: The Republic of Korea has a very low prevalence of human immunodeficiency virus (HIV) infection, but the number of new HIV diagnoses has steadily risen, strongly indicating a large number of undetected HIV infections. Thus, it is important for Korean public health authorities to adopt and encourage cost-effective HIV detection tools, such as rapid HIV screening tests. In this study, we aimed to evaluate the cost-effectiveness of enzyme-linked immunosorbent assays (ELISA) and rapid tests in a public health center (PHC) setting. Methods: We developed a decision analytic model to assess the per-examinee cost and the cost-effectiveness of identifying HIV patients in a PHC setting using two HIV testing strategies: conventional HIV screening by ELISA versus rapid HIV testing. Analysis was performed in two scenarios: HIV testing in an average-risk population and in a high-risk population. Results: Compared to the ELISA, the rapid test was cost-saving and cost-effective. The per-examinee cost was USD 1.61 with rapid testing versus USD 3.38 with ELISA in an average-risk population, and USD 4.77 with rapid testing versus USD 7.62 with ELISA in a high-risk population. The cost of identifying a previously undiagnosed HIV case was USD 26,974 with rapid testing versus USD 42,237 with ELISA in an average-risk population, and USD 153 with rapid testing versus USD 183 with ELISA in a high-risk population. Conclusion: Rapid testing would be more cost-effective than using conventional ELISA testing for identifying previously undiagnosed HIV-infected cases in Korea, a country with extremely low HIV prevalence.

• Tuberculosis and Respiratory Diseases
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• v.57 no.2
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• pp.138-142
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• 2004

Background : To evaluate exudative pleural fluid, thoracentesis for microbiological and cytological examination and pleural biopsy by using a Cope needle are traditionally performed. Even after these studies, about 20% of patients remain undiagnosed. We evaluated the diagnostic accuracy and complications of 2-mm minithoracoscopy instead of blind biopsy in patients with undiagnosed exudative pleural effusion. Method : Fifteen patients with exudative pleural effusion underwent thoracoscopy between April 2002 and August 2003. The indication was undiagnosed pleural effusions after having performed sputum and pleural fluid exami-nations both microbiologically and cytologically. Results : The median age of the patients was 56 years (range 21-77). Pleural effusions were lymphocyte-dominant in 11 patients (73.3%) and neutrophil-dominant in 3 (20.0%). The remaining patient (6.7%) had pleural-fluid eosinophilia. Minithoracoscopic biopsy revealed accurate diagnosis in 14 patients (93.3%), consisting of tuberculous pleurisy in 8 (66.7%), malignant effusions in 4 (33.3%), and parapneumonic effusions in 2 (13.3%). One was diagnosed as having paragonimiasis from thoracoscopic findings and clinical considerations. There was no procedure-associated mortality. There were six cases of new onset fever (40%) and one of pneumothorax (6.7 %). Conclusion : Two-millimeter minithoracoscopy, which is less invasive than conventional thoracoscopy, was an accurate and safe method for undiagnosed exudative pleural effusion.