• Journal of Genetic Medicine
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• 제19권2호
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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 Audiology & Otology
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• 제23권2호
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• pp.83-88
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• 2019

Background and Objectives: Mild cognitive impairment (MCI) is a disorder that usually occurs in the elderly, leading to dementia in some progressive cases. The purpose of this study is to examine the utility of central auditory processing tests as early diagnostic tools for identifying the elderly with MCI. Subjects and Methods: This study was conducted on 20 elderly patients with MCI and 20 healthy matched peers. The speech perception ability in a quiet environment and in the presence of background noise and also temporal resolution were assessed by using Speech Perception in Noise (SPIN) and Gap in Noise (GIN) tests, respectively. Results: The results indicated that the ability to understand speech in a quiet environment did not differ significantly between the two groups. However, SPIN at the three signal-to-noise ratios and the temporal resolution scores were significantly different between the two groups (p<0.001). Conclusions: Individuals with MCI appear to have poorer speech comprehension in noise and a lower temporal resolution than those of the same age, but without cognitive defects. Considering the utility of these tests in identifying cognitive problems, we propose that since the GIN test seems to be less influenced by intervening factors, this test can therefore, be a useful tool for the early screening of elderly people with cognitive problems.

• 대한청각학회지
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• 제23권2호
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• pp.83-88
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• 2019

Background and Objectives: Mild cognitive impairment (MCI) is a disorder that usually occurs in the elderly, leading to dementia in some progressive cases. The purpose of this study is to examine the utility of central auditory processing tests as early diagnostic tools for identifying the elderly with MCI. Subjects and Methods: This study was conducted on 20 elderly patients with MCI and 20 healthy matched peers. The speech perception ability in a quiet environment and in the presence of background noise and also temporal resolution were assessed by using Speech Perception in Noise (SPIN) and Gap in Noise (GIN) tests, respectively. Results: The results indicated that the ability to understand speech in a quiet environment did not differ significantly between the two groups. However, SPIN at the three signal-to-noise ratios and the temporal resolution scores were significantly different between the two groups (p<0.001). Conclusions: Individuals with MCI appear to have poorer speech comprehension in noise and a lower temporal resolution than those of the same age, but without cognitive defects. Considering the utility of these tests in identifying cognitive problems, we propose that since the GIN test seems to be less influenced by intervening factors, this test can therefore, be a useful tool for the early screening of elderly people with cognitive problems.

• Journal of Veterinary Science
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• 제25권4호
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• pp.52.1-52.10
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• 2024

Importance: Kidney disease is prevalent among veterinary species, including zoo animals; however, investigations into this condition in striped skunks (Mephitis mephitis) are scarce. Diagnostic tools for kidney diseases in this species also remain limited. Objective: This study aimed to assess the utility of symmetric dimethylarginine as a biomarker for kidney disease in captive striped skunks in Korea. Methods: This retrospective study analysed 11 striped skunks housed at the Everland Zoo between 2017 and 2021. Blood samples were collected during health checks. Kidney function was assessed through blood analysis and diagnostic ultrasound, with necropsies conducted on deceased animals. Symmetric dimethylarginine levels were measured in 27 plasma samples collected from 11 skunks. Results: Over the study period, seven skunks were diagnosed with kidney disease. Analysis of 27 blood samples revealed a concurrent increase in SDMA levels with concentrations of blood urea nitrogen and blood creatinine. In 3 of the 7 skunks with kidney disease, symmetric dimethylarginine exceeded 14 ㎍/dL prior to the elevation of blood urea nitrogen and blood creatinine above the upper reference limit. Conclusions and Relevance: To our knowledge, this is the first study investigating symmetric dimethylarginine in captive striped skunks in Korea. Our findings suggest that symmetric dimethylarginine may serve as an early and consistent biomarker for renal dysfunction in striped skunks. Further studies with larger clinical sample size from striped skunks are needed to validate the clinical utility of blood symmetric dimethylarginine concentration.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7345-7349
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• 2013

Background: Because of the high prevalence of hepatocellular carcinoma (HCC) in Egypt, new markers with better diagnostic performance than alpha-feto protein (AFP) are needed to help in early diagnosis. The aim of this work was to compare the clinical utility of both serum and mRNA glypican3 (GPC3) as probable diagnostic markers for HCC among Egyptian patients. Materials and Methods: A total of 60 subjects, including 40 with HCC, 10 with cirrhosis and 10 normal controls were analyzed for serum GPC3 (sGPC3) by ELISA. GPC-3 mRNA from circulating peripheral blood mononuclear cells was amplified by RT-PCR. Both markers were compared to some prognostic factors of HCC, and sensitivity of both techniques was compared. Results: Serum glypican-3 and AFP were significantly higher in the HCC group compared to cirrhotic and normal controls (p<0.001). Sensitivity and specificity were (95% each) for sGlypican-3, (82.5% and 85%) for AFP, and (100% and 90%) for Glypican3 mRNA, and (80% and 95%) for double combination between sGPC3 and AFP respectively. Conclusion: Both serum GPC-3 and GPC-3mRNA are promising diagnostic markers for early detection of HCC in Egyptian patients. RT- PCR proved to be more sensitive (100%) than ELISA (95%) in detecting glypican3.

• Asian Pacific Journal of Cancer Prevention
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• 제15권10호
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• pp.4169-4173
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• 2014

Background: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is highly accurate in diagnosing mediastinal lymphadenopathies of lung cancer and benign disorders. However, the utility of EBUS-TBNA in the diagnosis of mediastinal lymphomas is unclear. The aim of this study was to determine the diagnostic value of EBUS-TBNA in patients with suspected lymphoma. Materials and Methods: Sixty-eight patients with isolated mediastinal lymphadenopathy and suspected of lymphoma were included in the study. EBUS-TBNA was performed on outpatients under moderate sedation. The sensitivity, specificity, negative predictive value and diagnostic accuracy of EBUS-TBNA were calculated. Results: Sixty-four patients were diagnosed by EBUS-TBNA, but four patients with non-diagnostic EBUS-TBNA required surgical procedures. Thirty-five (51.5%) patients had sarcoidosis, six (8.8%) had reactive lymphadenopathy, nine (13.3%) had tuberculosis, one (1.5%) had squamous cell carcinoma, two (2.9%) had sarcoma and fifteen (22%) had lymphoma (follicular center cell, large B-cell primary, and Hodgkin lymphomas in three, two, and ten, respectively). Of the 15 lymphoma patients, thirteen were diagnosed by EBUS and two by thoracotomy and mediastinoscopy. The sensitivity, specificity, negative predictive value, and diagnostic accuracy of EBUS-TBNA for the diagnosis of lymphoma were calculated as 86.7%, 100%, 96.4%, and 97%, respectively. Conclusions: EBUS-TBNA can be employed in the diagnosis of mediastinal lymphoma, instead of more invasive surgical procedures.

• Asian Pacific Journal of Cancer Prevention
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• 제17권1호
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• pp.323-333
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• 2016

Background: Ovarian cancer remains a major worldwide health care issue due to the lack of satisfactory diagnostic methods for early detection of the disease. Prior studies on the role of serum cancer antigen 125 (CA125) and human epididymis protein 4 (HE4) in detecting ovarian cancer presented conflicting results. New tools to improve the accuracy of identifying malignancy are urgently needed. We here aimed to evaluate the diagnostic utility of tissue CA125 and HE4 gene expression in comparison to serum CA125 and HE4 in discriminating benign from malignant pelvic masses. Materials and Methods: One-hundred Egyptian women were enrolled in this study, including 60 epithelial ovarian cancer (EOC) patients and 20 benign ovarian tumor patients, as well as 20 apparently healthy women. Preoperative serum levels of CA125 and HE4 were measured by immunoassays. Tissue expression levels of genes encoding CA125 and HE4 were determined by quantitative real time polymerase chain reaction (qRT-PCR). The diagnostic performance of CA125 and HE4, measured either as mRNA or protein levels, was evaluated by receiver operating characteristic (ROC) curves. Results: The serum CA125+HE4 combination and serum HE4, with area under the curve (AUC) values of 0.935 and 0.932, respectively, performed significantly better than serum CA125 (AUC=0.592; P<0.001). Tissue CA125 and HE4 (AUC=1) performed significantly better than serum CA125 (P<0.001), serum HE4 (P=0.016) and the serum CA125+HE4 combination (P=0.018). Conclusions: Measurement of tissue CA125 and HE4 gene expression not only improves discriminatory performance, but also broadens the range of differential diagnostic possibilities in distinguishing EOC from benign ovarian tumors.

• 치과방사선
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• 제25권2호
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• pp.389-398
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• 1995

The purpose of this study was to compare the diagnostic performance of Waters' and panoramic view; maxillary sinus posteroanterior and lateral scanography of Scanora/sup (R)/ for mucosal thickening of maxillary sinus as well as to identify the utility of Scanora/sup (R)/ for the detection of maxillary sinus disease. The assessment was done at 66 maxillary sinuses in 45 patients and the results were as follows ; 1. Estimation of presence or absence of mucosal thickening. The sensitivity, specificity, and positive and negative predictive value of maxillary sinus posteroanterior and lateral scanography were 0.865, 0.860, 0.921, and 0.805 respectively and slightly higher than those of Waters' and panoramic views, which were 0.832, 0.835, 0.903, and 0.728 respectively. However, paired t-test showed no significant differences in the diagnostic performance of the two pairs of imaging modalities. 2. Estimation of the types of mucosal thickening. The diagnostic accuracy for type I, II, III was 75.3％ on Waters' and panoramic view; 77.9％ on maxillary sinus posteroanterior and lateral scanography. It was higher on the latter ,but showed no significant differences from that on the former. 3. Reliability of interpretation. In itraobserver and interobserver agreement, both overall rates of agreement and kappa-value were slightly higher on maxillary sinus posteroanterior and lateral scanography than on Waters' and panoramic views. There was no significant differences between the two pairs of imaging modalities. These results suggested that scanogram is a useful diagnostic radiography as well as Waters' and panoramic views for detection of maxillary sinusitis.

• 한국간담췌외과학회지
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• 제27권3호
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• pp.307-312
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• 2023

Hepatic arterioportal fistulae are abnormal communications between the hepatic artery and portal vein. They are reported to be congenital or acquired secondary to trauma, iatrogenic procedures, hepatic cirrhosis, and hepatocellular carcinoma, but less likely to occur spontaneously. Extrahepatic portal venous obstruction (EHPVO) can lead to pre-hepatic portal hypertension. A spontaneous superimposed hepatic arterioportal fistula can lead to pre-sinusoidal portal hypertension, further exacerbating its physiology. This report describes a young woman with long-standing EHPVO presenting with repeated upper gastrointestinal variceal bleeding and symptomatic hypersplenism. Computed tomography scan demonstrated a cavernous transformation of the portal vein and a macroscopic hepatic arterioportal fistula between the left hepatic artery and portal vein collateral in the central liver. The hepatic arterioportal fistula was associated with a flow-related left hepatic artery aneurysm and a portal venous collateral aneurysm proximal and distal to the fistula, respectively. Endovascular coiling was performed for the hepatic arterioportal fistula, followed by proximal splenorenal shunt procedure. This case illustrates an uncommon association of a spontaneous hepatic arterioportal fistula with EHPVO and the utility of a combined endovascular and surgical approach for managing multifactorial non-cirrhotic portal hypertension in such patients.

• Annals of Clinical Neurophysiology
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• 제13권1호
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• pp.1-12
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• 2011

Transcranial magnetic stimulation (TMS) is a non-invasive tool used to study aspects of human brain physiology, including motor function and the pathophysiology of various brain disorders. A brief electric current passed through a magnetic coil produces a high-intensity magnetic field, which can excite or inhibit the cerebral cortex. Although various brain regions can be evaluated by TMS, most studies have focused on the motor cortex where motor evoked potentials (MEPs) are produced. Single-pulse and paired-pulse TMS can be used to measure the excitability of the motor cortex via various parameters, while repetitive TMS induces cortical plasticity via long-term potentiation or long-term depression-like mechanisms. Therefore, TMS is useful in the evaluation of physiological mechanisms of various neurological diseases, including movement disorders and epilepsy. In addition, it has diagnostic utility in spinal cord diseases, amyotrophic lateral sclerosis and demyelinating diseases. The therapeutic effects of repetitive TMS on stroke, Parkinson disease and focal hand dystonia are limited since the duration and clinical benefits seem to be temporary. New TMS techniques, which may improve clinical utility, are being developed to enhance clinical utilities in various neurological diseases.