• Title/Summary/Keyword: Undiagnosed diseases

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Cost-Effectiveness of Voluntary HIV Testing Strategies in a Very Low-Prevalence Country, the Republic of Korea

  • Lee, Young Hwa;Bang, Ji Hwan;Park, Sang Min;Kang, Cho Ryok;Cho, Sung-Il;Oh, Myoung-don;Lee, Jong-Koo
    • 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.

Diagnostic Accuracy of 2-mm Minithoracoscopic Pleural Biopsy for Pleural Effusion (흉수 환자에서 Minithoracoscopy를 이용한 흉막 생검의 진단적 유용성)

  • Kim, Woo Jin;Lee, Hui Young;Lee, Sung Ho;Cho, Seong Joon;Park, Weon-Seo;Kim, Ja Kyoung;Lee, Seung-Joon
    • 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.

Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases

  • Na, Kwon Joong;Park, Kay-Hyun
    • Journal of Chest Surgery
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    • v.47 no.6
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    • pp.536-540
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    • 2014
  • Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often misdiagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome.

Open Lung Biopsy for Diffuse Infiltrative Lung Disease (미만성 폐질환에 대한 폐생검의 의의)

  • 김해균
    • Journal of Chest Surgery
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    • v.24 no.9
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    • pp.903-906
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    • 1991
  • Retrospective review of 26 patients undergoing open lung biopsy at the Yonsei University during 10 years period was conducted to evaluate open lung biopsy for DILD. From January 1980 to August 1990, open lung biopsy was performed in 26 patients through a limited thoracotomy incision[a limited anterior or a posterolateral thoracotomy]. Open lung biopsy was indicated for diffuse interstitial pulmonary diseases undiagnosed by indirect clinical and radiological diagnostic methods. The types of incision were limited anterior[11] and limited posterolateral[15]. Preoperative evaluation of the lung disease included sputum culture[26], sputum cytology [19], bronchoscopy[9] and TBLB[7]. In 23 patients the histologic appearances after open lung biopsy were sufficiently specific histologic pictures to confirm diagnosis. The results of the biopsies changed usual therapeutic plan in 17 patients among them. The complications were resp. insufficiency[3], pulmonary ed6ma[3], sepsis[2], and others[3] in 6 patients. Diagnosis from the open lung biopsy was included respiratory pneumonia[7], fibrosis[7], infection[5], malignancy[2], others[5]. 4 patients died of respiratory insufficiency. The causes of the other three death were not due to direct result of the biopsy itself. Open lung biopsy in the patient with a diffuse infiltrative lung disease is an one of the accurate diagnostic method and frequently leads to change of the therapeutic plans. So we conclude that open lung biopsy remains our diagnostic method of choice in diffuse infiltrative lung disease undetermined etiology.

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A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone

  • Joung, Jin Woon;Song, Young Wha;Kim, Jong Dae;Cheon, Eun Jung
    • Childhood Kidney Diseases
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    • v.25 no.1
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    • pp.44-48
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    • 2021
  • Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.

Jaws of knowledge: an analysis of temporomandibular joint insights in dental training-a quasi-experiment study

  • Bhushan R. Bhagat;Mahesh R. Khairnar;Samanwita Maity;Muskaan M. Sachdev;Sonal Shah;Ravina Dharamsi
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.50 no.2
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    • pp.80-85
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    • 2024
  • Objectives: To access the knowledge of undergraduate and postgraduate students of the dental college on basic anatomy, physiology, clinical examination, and pathology of the temporomandibular joint (TMJ). Materials and Methods: A total of 610 undergraduate and postgraduate students of dental college, were included in this study. The questionnaire was pretested for validation and distributed online through Google forms. Results: A pairwise comparison showed that the percentage of correct answers for interns significantly differed from that of IV Bachelor of Dental Surgery (P=0.050) and postgraduate students (P=0.048) (below average: up to 6 correct answers, good: 7-11 correct answers, excellent: 12 or more correct answers). Conclusion: TMJ diseases are common in daily life but frequently go undiagnosed and untreated due to a lack of clinical expertise. This demonstrates the necessity of providing instructions that give students in-depth knowledge and abilities for TMJ issues in clinical practice.

Pulmonary Leukocytoclastic Vasculitis as an Initial Presentation of Myelodysplastic Syndrome

  • Lee, Seung Hyun;Kim, Jae Hyung;Park, Sejin;Won, Chang Youn;Lee, Joo-Hyun;Yi, Seong Yoon;Park, Hye Kyeong;Chang, Sun Hee;Jung, Hoon;Lee, Sung-Soon;Koo, Hyeon-Kyoung
    • Tuberculosis and Respiratory Diseases
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    • v.79 no.4
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    • pp.302-306
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    • 2016
  • Systemic vasculitis involving the lung is a rare manifestation of myelodysplastic syndrome (MDS), and secondary vasculitis is considered to have poor prognosis. A 44-year-old man presented with fever and dyspnea of 1 month duration. A chest radiograph revealed bilateral multiple wedge shaped consolidations. In addition, the results of a percutaneous needle biopsy for non-resolving pneumonia were compatible with pulmonary vasculitis. Bone marrow biopsy was performed due to the persistence of unexplained anemia and the patient was diagnosed with MDS. We reported a case of secondary vasculitis presenting as non-resolving pneumonia, later diagnosed as paraneoplastic syndrome of undiagnosed MDS. The cytopenia and vasculitis improved after a short course of glucocorticoid treatment, and there was no recurrence despite the progression of underlying MDS.

A Case of Papillary Thyroid Cancer Presenting as Pleural Effusion (흉수로 발현한 유두모양 갑상샘암)

  • Jung, Ki Hwan;Seo, Ji A;Lee, Ju-Han;Jo, Won Min;Kim, Je Hyeong;Shin, Chol
    • Tuberculosis and Respiratory Diseases
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    • v.64 no.4
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    • pp.314-317
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    • 2008
  • We report the patient presented with a left-sided pleural effusion. Pleural fluid analysis revealed lymphocyte-dominant exudates with lower level of adenosine deaminase and negative cytologic malignancy. Thoracoscopic examination and histologic examination revealed metastatic nodules on pleurae, proven to be from the papillary thyroid cancer. There were no other sites of distant metastases. Though papillary thyroid cancer is characterized with slow progression and relatively good prognosis, metastatic pleural effusion as an initial manifestation of undiagnosed papillary thyroid cancer can be considered.

Agammaglobulinemia in a 8-year-old boy with recurrent pneumococcal infection and his elder brother (반복적인 폐구균 감염을 보인8세 남아와 친형에서의 범저감마글로불린혈증)

  • Chung, Sung-Hoon;Ahn, Yong-Joo;Kim, Su-Yeon;Cho, Byoung-Soo;Kim, Sung-Do
    • Pediatric Infection and Vaccine
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    • v.14 no.1
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    • pp.116-119
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    • 2007
  • Patients with primary immunodeficiencies often have symptoms of their disease for months or years before diagnosis and treatment. This is partly because these disorders are relatively uncommon and the infections typical of immunodeficienciey, for example otitis, sinusitis, and pneumonia, are common. We report a case of agammaglobulinemia in an 8-year-old boy with recurrent and severe infection. He was first seen in our hospital for bacterial meningitis in 2006. His immune status revealed panhypogammaglobulinemia and deficiency in mature B lymphocyte. His elder brother also showed deficiency in mature B lymphocyte but mild hypogammaglobulinemia. Some X-linked agammaglobulinemia (XLA) cases may remain undiagnosed because they only show mild hypogammaglobulinemia and they lack repeated infections in childhood.

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Relationship between Impaired Fasting Glucose and Periodontal Health among Adults (성인의 공복혈당 수치에 따른 치주건강의 관련성)

  • Jin, Hye-Jung;Kim, Hye-Young
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.12 no.11
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    • pp.5034-5042
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    • 2011
  • This aim of this study is to assess the association of between glucose level and periodontal diseases in Korea adults. The data for analysis were obtained from Korea National Health and Nutrition Examination Survey 2009. A total of 7,062 subjects who aged 19 years and above, underwent a medical and dental checkups. The prevalence of undiagnosed diabetes group was 27%, and the prevalence of impaired fasting glucose(IFG) group was 41.2%, diabetes group was 43.6% with periodontitis. IFG and diabetes had significantly higher prevalence of periodotontits compared to those having normal after adjusting confounding variables; the odds ratios were 1.35 (95% confidence interval: 1.17 to 1.55) and 1.27 (95% confidence interval: 1.02 to 1.58), respectively. This study has suggested that diabetes increases the risk of periodontal disease. Proactive, preventative dental and diabetes self care, as well as regular dental and diabetes assessment, are important management strategies for impaied fasting glucose and periodotnal health.