• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.72-77
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• 2015

Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.

• The Korean Journal of Nuclear Medicine
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• v.25 no.1
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• pp.61-67
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• 1991

The usefulness of $^{99m}Tc-labeled$ RBC single photon emission CT (SPECT) scanning in the diagnosis of hepatic heminagiomas was evaluated in 22 patients with various focal hepatic lesions including 15 cases of hemangiomas, 3 cases each of hepatomas and metastasis and 1 case of abscess. The diagnoses were based on ultrasonography and/or CT scanning, clinical stability of lesion for at least 6 months or surgical exploration. Seven cases of 15 hemangiomas were detected by delayed planar RBC scanning, whereas 4 cases were detected by delayed RBC-SPECT scanning. The smallest hemangioma shown by delayed RBC-SPECT scanning was 1.0 cm in diameter. compared with 2.2 cm by planar RBC scanning. One small hemangioma (2.0 cm) located adjacent to the heart was not found by either method. The sensitivities in detecting the hemangioma according to the site by planar imaging were 16.6% $(1.0\sim1.9cm)$, 66.7% $(2.0\sim2.9cm)$ and 83.3% (more than 3.0 cm) and by SPECT were 50.0%, 66.7% and 100%, respectively. Seven cases of non-hemangiomatous lesions did not show any significant increase in activity in the delayed blood pool images. It is concluded that $^{99m}Tc-RBC$ blood-pool SPECT scanning is clearly more sensitive in detecting small hemangioma than planar scanning and is, therefore, a choice of method for the detection of hepatic hemangioma.

• The Korean Journal of Nuclear Medicine
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• v.25 no.1
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• pp.68-75
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• 1991

The value of $^{99}Tc-RBC$ scintigraphy and SPECT in the diagnosis of hepatic hemangioma was evaluated in 27 patients with 38 hemangiomas and 13 patients with 15 nonhemangiomas. Twenty four (63.2%) of 38 hemangiomas were detected by planar delayed RBC imaging, whereas 30 (78.9%) hemangiomas were detected by the delayed RBC SPECT. Increase in sensitivity was noted in nodules less than 2 cm in diameter. The smallest hemangioma shown by delayed RBC SPECT was 0.9 cm in diameter. All of nonhemangiomatous lesions show normal or decreased activity in delayed blood pool images. We concluded that $^{99m}Tc-RBC$ SPECT is an accurate method for the detection of hepatic hemangioma and is more sensitive than planar imaging in depicting small lesions.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.16-23
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• 2004

Purpose: In this study, we tried to evaluate the clinical characteristics or circumstances that lead to unintentionally the delay in the diagnosis of intussusception or to the wrong direction that prevent the proper management early. Methods: All the patients of intussusception with delayed diagnosis in the department of pediatrics or emergency room at Gyeongsang National University Hospital from 1990 to 2003 were enrolled and reviewed retrospectively. Results: There were 8 boys and 6 girls and their median age was 8 months (range 2 months to 10 years). Their initial symptoms and signs were vomiting, seizure, diarrhea, lethargy, irritability, bloody stool, palpable abdominal mass, foul odor of urine and tachycardia. Clinical diagnosis or impressions at admission consisted of acute gastroenteritis, shigellosis and toxic encephalopathy, convulsive disorders, urinary tract infections, sepsis, abdominal mass and intestinal obstruction. Eight patients were luckily diagnosed due to the delayed manifestations of cyclic irritability or currant jelly stool. Six patients were not paid attentions for the possibilities of intussusception and diagnosed serendipitiously by the abdominal sonography or CT during the evaluation of the abdominal mass or distension. Only five of 14 cases (35.7%) were successfully managed by barium or air reductions. The other 9 cases needed surgical operations. Conclusion: Delayed diagnosis of intussusception arise when doctors initially diagnose the patients incorrectly due to the unusual presentations or when they overlook the newly arising symptoms or signs suggestive intussusception after the admission because they are ardently attached to the first impressions or initial clinical diagnosis.

• Journal of Chest Surgery
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• v.24 no.5
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• pp.505-509
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• 1991

Rupture or laceration of the aorta is a more common result of nonpenetrating traumatic injury than is generally appreciated. If the lesion is promptly diagnosed, a appropriate surgical treatment may be life-saving. Diagnosis may be difficult and at times the rupture may remain clinically silent for variable period.< A 34 - year old male patient had sustained steering wheel injury to his chest during automobile accident 8 weeks prior to admission. The diagnosis of traumatic aneurysm of the aorta was delayed as he was asymptomatic. Surgical repair of false aneurysm of the descending aorta was successfully performed by partial cardiopulmonary bypass through the femoral artery and vein.

• Journal of Korean Foot and Ankle Society
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• v.25 no.1
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• pp.46-49
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• 2021

Acute compartment syndrome occurs when pressure increases within closed compartments due to injuries causing soft tissue damage. Delayed treatment can lead to undesirable consequences. This paper reports a three-year-old patient in whom a fasciotomy was performed successfully despite the potential side effects. Fasciotomy may be considered when the diagnosis and clinical symptoms of delayed compartment syndrome are clear. This study determined that the three-year-old patient would undergo a relatively smooth recovery compared to elderly patients of advanced age. Because the dorsalis pedis artery pulse was palpable, an emergency surgical treatment was performed to restore the damaged tissues and prevent further necrosis. The patient has shown a satisfactory recovery.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.98-101
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• 2019

A 64-year-old man presented with facial diplegia occurring 2 weeks after scrub typhus diagnosis. The serum scrub typhus antibody titer was elevated to 1:5120. Brain magnetic resonance imaging revealed contrast-enhancement of the signal for both facial nerves. He was administered prednisolone. After two weeks, the symptoms improved, and after one month, he completely recovered from facial diplegia. This is the first case in the literature in which the patient exhibited facial diplegia, a delayed complication, in scrub typhus. Facial diplegia should be considered a type of cranial nerve palsy that may occur as a delayed complication of scrub typhus.

• Nuclear Engineering and Technology
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• v.55 no.3
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• pp.814-826
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• 2023

Sensor faults in nuclear power plant instrumentation have the potential to spread negative effects from wrong signals that can cause an accident misdiagnosis by plant operators. To detect sensor faults and make accurate accident diagnoses, prior studies have developed a supervised learning-based sensor fault detection model and an accident diagnosis model with faulty sensor isolation. Even though the developed neural network models demonstrated satisfactory performance, their diagnosis performance should be reevaluated considering real-time connection. When operating in real-time, the diagnosis model is expected to indiscriminately accept fault data before receiving delayed fault information transferred from the previous fault detection model. The uncertainty of neural networks can also have a significant impact following the sensor fault features. In the present work, a pilot study was conducted to connect two models and observe actual outcomes from a real-time application with an integrated system. While the initial results showed an overall successful diagnosis, some issues were observed. To recover the diagnosis performance degradations, additive logics were applied to minimize the diagnosis failures that were not observed in the previous validations of the separate models. The results of a case study were then analyzed in terms of the real-time diagnosis outputs that plant operators would actually face in an emergency situation.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.1141-1145
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• 2013

Delay in seeking treatment for breast cancer is a barrier to the early diagnosis and management of the disease, resulting in a poorer prognosis. We here estimated the prevalence of delayed presentation for breast cancer and identified possible influential sociodemographic factors in a cross-sectional study of 250 patients diagnosed with primary breast cancer at the Radiotherapy and Oncology Clinic in Kuala Lumpur Hospital. Data were collected by face-to-face interview using a structured questionnaire and from medical records. We examined associations between delayed presentation (presenting to a physician more than 3 months after self-discovery of a symptom) and sociodemographic characteristics, practice of breast self examination (BSE), history of benign breast disease, family history of breast cancer and type of symptom, symptom disclosure and advice from others to seek treatment using multiple logistic regression. Time from self-discovery of symptom to presentation ranged from tghe same day to 5 years. Prevalence of delayed presentation was 33.1% (95%CI: 27.4, 39.3). A significantly higher proportion of delayers presented with late stages (stage III/IV) (58.3% vs. 26.9%, p<0.001). Divorced or widowed women (OR: 2.23, 95% CI: 1.11, 4.47) had a higher risk of delayed presentation than married women and women who never performed breast self examination were more likely to delay presentation compared to those who regularly performed BSE (OR: 2.74, 95% CI: 1.33, 5.64). Our findings indicate that delayed presentation for breast cancer symptoms among Malaysian women is high and that marital status and breast self examination play major roles in treatment-seeking for breast cancer symptoms.

• Archives of Plastic Surgery
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• v.37 no.4
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• pp.489-491
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• 2010

Purpose: Retrobulbar hemorrhage is a rare complication followed by blepharoplasty, trauma, orbital reconstruction, and so on. Most of the cases occur within 24 hours, half of them in the first 6 hours. Some authors have reported delayed retrobulbar hemorrhage after blepharoplasty and trauma within 1 day to 9 days. However, there have been few reports of delayed retrobulbar hemorrhage resulting from the complication of orbital reconstruction. Methods: A 22-year-old male underwent orbital floor reconstruction due to the orbital floor fracture. In 84 hours after the surgery, he complained sudden onset orbital pain and decreased visual acuity immediately after defecation. Intraocular pressure was unmeasurable due to the swelling at that time. Emergency computed tomography was performed. Results: Computed tomography revealed subperiosteal hematoma on inferior orbital wall extended to the apex. Emergency decompressive surgery was performed within 1 hour. After evacuation of hematoma, orbital symptom was improved and visual acuity was restored. Conclusion: Delayed retrobulbar hemorrhage is rare but vision-threatening. Therefore early diagnosis and treatment of delayed retrobulbar hemorrhage is thought to be crucial. The cause of delayed hemorrhage was not clear, however, valsalva maneuver might be the cause of hemorrhage.