• 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.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.8
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• pp.4203-4208
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• 2012

Aim: This study assessed if onfFN mRNA in the peripheral blood of patients with DTC can identify individuals with metastatic disease. Methods: Comparison of onfFN mRNA was made among 3 groups: disease-free, lymph node metastasis, and distant metastasis using real-time RT-PCR on 5 ml blood samples from each DTC patient. Results: Fifty-one patients were included: 30 (59%) were disease-free; 7 (13.7%) had lymph node metastasis; and 14 (27.5%) had distant metastasis. OnfFN mRNA levels in the 3 groups were significantly different (P=0.001) but with a large overlap and the expression being highest in the disease-free group. Subgroup analysis of the metastatic groups did not show any effect of age, cell type, and serum TSH, Tg, and antiTg on onfFN mRNA. The within-run and between-run root mean square coefficients of variations were <2%. Conclusion: OnfFN mRNA in patients with DTC cannot identify those with metastatic disease.

• Korean Journal of Veterinary Research
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• v.60 no.1
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• pp.9-14
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• 2020

This study describes pathological, immunohistochemical, and bacteriological findings in adult dogs and fetuses naturally infected with Brucella (B.) canis. A total of 42 dogs including 40 dogs and 2 aborted fetuses were examined. The most common gross lesions in infected dogs were swelling of lymph nodes and spleen. The testes showed marked swelling with multifocal to diffuse reddish discoloration. The most significant histopathological lesions were observed in the placenta. Placental trophoblasts were markedly hypertrophied due to the accumulation of intra-cellular gram-negative bacteria. Lymphocytic inflammation of varying severity was observed in the reproductive organs such as male testis, epididymis, and prostate gland and female uterus. Strong immunolabelling was observed in the cytoplasm of most trophoblasts in the placental tissues using immunohistochemistry. However, immunohistochemical staining did not demonstrate any organisms in other organs of dogs and fetuses. B. canis isolates were most frequently obtained from the whole blood (82.5%) and superficial inguinal lymph node (77.5%) in both sexes. In addition, the isolation rate was higher in male genital organs than in those of females. Hence, management of male dogs is most important because infected dogs can play a role as carriers.

• The Korean Journal of Nuclear Medicine
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• v.8 no.1_2
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• pp.39-47
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• 1974

The purpose of this study is to evalute the diagnostic value of the brain scanning and compare the diagnostic accuracy between the scan and carotid angiography. 109 cases which are proved by specific method to each disease, are analized to evalute the diagnostic value of the brain scanning. The 70 cases among the proven 109 case are performed both the scanning and the arteriography and analized to compare the accuracy between the scanning and the arteriography. The results are as follows; 1. The diagnostic accuracy of the brain scanning in the diseases of the central nervous system is 64.2%. 2. The diagnostic accuracy of the brain scanning in the brain tumor is 88%, especially brain abscess. glioma, glioblastoma multiforme, menirgioma and metastic tumor show high positive rate. 3. The diagnostic accuracy in the disease of the brain vessels is 54 %. 4. The comparison of the diagnostic value between the scanning and the arteriography is as follows; 1) The diagnostic value in all diseases of the central nervous system is nearly equal. 2) The diagnostic accuracy in the intracranial tumor is slightly higher in the brain scanning (90.9%) than in the arteriography (81.8%). 3) The diagnostic accuracy in the disease of the brain vessel is higher in the arteriography (77.3%) than in the scanning (54.5%). 5) The diagnostic value when combining the scanning and the arteriography, is 83% in the all central nervous system-lesions, 97% in the cranial tumor and 81.8% in the disease of the central nervous system-vessel. The brain scanning is simple and safe procedure, and moreover has excellent diagnostic value in the diagnosis of the central nervous system lesion.

• Advances in pediatric surgery
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• v.8 no.1
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• pp.48-53
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• 2002

Diagnosing Hirschprungs disease (HD) is a clinical challenge to pediatric surgeons. The cardinal symptoms are failure of passage of meconium within first 24 hours of life, abdominal distension, and vomiting. The severity of these symptoms and the degree of consitpation vary considerably between patients. HD is suspected on the basis of history and clinical findings and the diagnosis is established by radiological examination, anorectal manometry, and histochemical analysis of biopsy specimens. In this review, the advantages and pitfalls of each diagnostic modality are discussed. And a diagnostic approach utilizing these diagnostic modalities in children with suspicious HD is presented.

• 대한상한금궤의학회지
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• v.13 no.1
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• pp.111-119
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• 2021

Objectives: This case study aimed to report the effect of Sihogyejigungang-tang (SGGT) on headache with dyspepsia based on the disease pattern identification diagnostic system (DPIDS) based on the Shanghanlun provisions. Methods: According to the DPIDS based on the Shanghanlun provisions, the patient was diagnosed with Greater Yang Disease Chest Bind and treated with SGGT. The results of treatment were evaluated by a numerical rating scale (NRS), the Korean Headache Impact Test (KHIT-6), and change in clinical symptoms. Results: After administering SGGT for 160 days, the NRS improved from 9 to 1 and the KHIT-6 improved from 70 to 44. No serious treatment-related adverse events were reported. Conclusions: This study shows the effective treatment of headache with dyspepsia using SGGT based on the DPIDS based on the Shanghanlun provisions.

• The Korean Journal of Nuclear Medicine
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• v.16 no.1
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• pp.63-72
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• 1982

Hepatoscintigram has been a useful diagnostic method for the liver diseases since 1953, but reasonable diagnostic criteria for parenchymal liver diseases are not yet accurately established. For the purpose of searching for more advanced diagnostic criteria for various types of live disease by the liver scan, a retrospective study was made of 272 cases who underwent both hepatoscintigram with 198 Au colloid and liver biopsy in Hanynag University Hospital from Jan., 1978 to Dec., 1981. The results were as follows: 1. Fuzzy margin (irregular indentation of the liver margin) in the hepatoscintigram was noted in 226 cases (97.79%). 2. Of 35 cases with fuzzy margin only, 28 cases (80%) revealed mild parenchymal liver disease, such as acute hepatitis or chronic persistent hepatitis by the liver biopsy. 3. Mottling change (209 cases) was always accompanied by fuzzy margin except only one case, and 31 cases (86.1%) of fuzzy and mottling cases (36 cases) showed mild parenchymal liver disease. 4. Configuration change (193 cases) was usually accompanied with other changes and espicially 104 cases had configuration change with fuzzy and mottling changes. 73 cases (88.44%) of 86 cases with severe configuration change revealed advanced parenchymal liver disease on biopsy. If liver scan showed mild configuration change, we could not decide the type of liver disease only liver scan, and so further studies are needed. 5. Splenic uptake was noted in 34 cases (40.48%) of 84 cases with advanced parenchymal liver disease, and the degree of splenic uptake was for the most part morderate or severe; whereas splenic uptake was noted in 18 cases (16.51%) of the mild parenchymal liver disease (109 cases), and the degree of splenic uptake was largely mild.

• 대한두경부종양학회:학술대회논문집
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• 1993.11a
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• pp.262.2-262.2
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• 1993

• Journal of Physiology & Pathology in Korean Medicine
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• v.25 no.6
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• pp.1113-1118
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• 2011

In this paper, when a physician make a diagnosis of the pattern identification (PI) in Korean stroke patients, the development methods of the PI classification function is considered by diagnostic questionnaire of the PI for stroke patients. Clinical data collected from 1,502 stroke patients who was identically diagnosed for the PI subtypes diagnosed by two physicians with more than 3 years experiences in 13 oriental medical hospitals. In order to develop the classification function into PI using Korean Stroke Syndrome Differentiation Standard was consist of the 44 items (Fire heat(19), Qi deficiency(11), Yin deficiency(7), Dampness-phlegm(7)). Using the 44 items, we took diagnostic and prediction accuracy rate through of discriminant model. The overall diagnostic and prediction accuracy rate of the PI subtypes for discriminant model was 74.37%, 70.88% respectively.

• The Korean Journal of Nuclear Medicine
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• v.38 no.3
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• pp.209-217
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• 2004

Evaluation of dementia in patients with early symptoms of cognitive decline is clinically challenging, but the need for early, accurate diagnosis has become more crucial, since several medication for the treatment of mild to moderate Alzheimer' disease are available. Many neurodegenerative diseases produce significant brain function alteration even when structural imaging (CT or MRI) reveal no specific abnormalities. The role of PET and SPECT brain imaging in the initial assessment and differential diagnosis of dementia is beginning to evolve vapidly and growing evidence indicates that appropriate incorporation of PET into the clinical work up can improve diagnostic and prognostic accuracy with respect to Alzheimer's disease, the most common cause of dementia in the geriatric population. in the fast few years, studios comparing neuropathologic examination with PET have established reliable and consistent accuracy for diagnostic evaluations using PET - accuracies substantially exceeding those of comparable studies of diagnostic value of SPECT or of both modalities assessed side by side, or of clinical evaluations done without nuclear imaging. This review deals the role of functional brain imaging techniques in the evaluation of dementias and the role of nuclear neuroimaging in the early detection and diagnosis of Alzheimer's disease.