• 대한임상검사과학회지
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• 제42권2호
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• pp.97-102
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• 2010

The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.

• 대한한의학회지
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• 제22권2호
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• pp.10-21
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• 2001

Objectives : Atopic dermatitis(AD) assume an remarkable clinical aspect and it s diagnosis almost depends on clinical symptoms. Therefore, we aimed to study the clinical diagnostic standard of AD for more accurate treatment. We repert as follows; Methods : For 6 months from March to August in 2000 we selected fifty outpatients who were prognosis of AD in the department of dermatology, Oriental medical hospitol, Dong-eui University. Results and Conclusions : 1. We classified of the grade, the condition of AD patient was slight and severe, by the sum of total by the clinical index of AD (diagnostic features). 2. By consulting previous oriental medical theories, we divided symptom-complex of AD into two type ; one was damp-heat type and the other was deficiency of blood- wind-dryness type. 3. Male to female ratio was 17 : 33 and the third stage, more than half of the patients were adolescents. 4. According to the results of symptom-complex of AD patients, on the first examination damp-heat type was more than deficiency of blood-wind-dryness type and in progressing treatment, the condition has been change to deficiency of blood-wind-dryness type. 5. In the lesions of AD, arm and knee were most serious skin lesions and in symptoms of AD, pruritus was most complained, and in progressing treatment, erosion and erythema were greatly improved. 6. When we measured the levels of serum Total IgE, that of thirty eight patientswere higher than that of normal, but elevation of serum IgE levels was not correlated with the severity of AD.

• Journal of Oral Medicine and Pain
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• 제19권2호
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• pp.73-79
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• 1994

A case of central neurilemmoma in mandible of 39 year-old Korean male was reported. The final diagnosis was determined by comprehensive evaluation of 1) clinical features of hard swelling, buccally, on right mandibular body region, 2) radiographic features of well- demarcated unilocular osteologic lesion on right mandibular body region, 3) histopathologic features of Antoni type A and Antoni type B, 4) immunohistochemical features of positive to S-100 protein.

• Korean Journal of Radiology
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• 제20권6호
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• pp.999-1000
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• 2019

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.6019-6023
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• 2013

Lung cancer, one of the leading causes of cancer-related deaths, usually appears as solitary pulmonary nodules (SPNs) which are hard to diagnose using the naked eye. In this paper, curvelet-based textural features and clinical parameters are used with three prediction models [a multilevel model, a least absolute shrinkage and selection operator (LASSO) regression method, and a support vector machine (SVM)] to improve the diagnosis of benign and malignant SPNs. Dimensionality reduction of the original curvelet-based textural features was achieved using principal component analysis. In addition, non-conditional logistical regression was used to find clinical predictors among demographic parameters and morphological features. The results showed that, combined with 11 clinical predictors, the accuracy rates using 12 principal components were higher than those using the original curvelet-based textural features. To evaluate the models, 10-fold cross validation and back substitution were applied. The results obtained, respectively, were 0.8549 and 0.9221 for the LASSO method, 0.9443 and 0.9831 for SVM, and 0.8722 and 0.9722 for the multilevel model. All in all, it was found that using curvelet-based textural features after dimensionality reduction and using clinical predictors, the highest accuracy rate was achieved with SVM. The method may be used as an auxiliary tool to differentiate between benign and malignant SPNs in CT images.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• Clinical and Experimental Pediatrics
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• 제59권7호
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• pp.308-311
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• 2016

We report a human parechovirus-3 (HPeV-3) infection in 2 neonates who had prolonged fever (>5 days) with palmar-plantar erythema. This distinctive rash was observed 4-5 days after fever onset, just before defervescence. Elevated aspartate aminotransferase, lactate dehydrogenase, and ferritin levels were characteristic laboratory findings in the 2 cases, suggesting tissue damage caused by hypercytokinemia. Case 1 was treated with intravenous immunoglobulin, considering the possibility of severe systemic inflammatory responses. The initial ferritin level was 385 ng/mL (range, 0-400 ng/mL); however, the level increased to 2,581 ng/dL on day 5 after fever onset. Case 2 presented with milder clinical symptoms, and the patient recovered spontaneously. HPeV-3 was detected in cerebrospinal fluid and/or blood samples, but no other causative agents were detected. The findings from our cases, in accordance with recent studies, suggest that clinical features such as palmar-plantar erythema and/or hyperferritinemia might be indicators of HPeV-3 infection in neonates with sepsis-like illness. In clinical practice, where virology testing is not easily accessible, clinical features such as palmar-plantar erythema and/or hyperferritinemia might be helpful to diagnose HPeV-3 infection.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권5호
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• pp.423-429
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• 2020

Purpose: Alimentary tract duplication (ATD) is a rare congenital condition that may occur throughout the intestinal tract. Clinical symptoms are generally related to the involved site, size of duplication, or associated ectopic mucosa. This study aimed to identify clinical implications by anatomical locations and age group and then suggest a relevant management according to its distinct features. Methods: We retrospectively reviewed the clinical data of pediatric patients who received a surgical management due to ATD. Furthermore, data including patients' demographics, anatomical distribution of the duplication, clinical features according to anatomical variants, and outcomes were compared. Results: A total of 25 patients were included in this study. ATD developed most commonly in the midgut, especially at the ileocecal region. The most common clinical presentation was abdominal pain, a sign resulting from intestinal obstruction, gastrointestinal bleeding, and intussusception. The non-communicating cystic type was the most common pathological feature in all age groups. Clinically, prenatal detection was relatively low; however, it usually manifested before the infantile period. A laparoscopic procedure was performed in most cases (18/25, 72.0%), significantly in the midgut lesion (p=0.012). Conclusion: ATD occurs most commonly at the ileocecal region, and a symptomatic one may usually be detected before the early childhood period. Surgical management should be considered whether symptom or not regarding its symptomatic progression, and a minimal invasive procedure is the preferred method, especially for the midgut lesion.

• Journal of Biomedical and Translational Research
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• 제19권4호
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• pp.110-115
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• 2018

Transient ischemic attack (TIA) indicates high risk for major stroke and is considered a medical emergency. Diffusion-weighted imaging (DWI) enables detection of acute ischemic lesions. The clinical significance of DWI positive lesions in TIA is obscure and its prevalence, clinical features are not established. Therefore, we performed a clinical, etiological and prognostic analysis through a cross-sectional analysis of 235 TIA patients, grouped according to presence of DWI lesion. Clinical features, underlying risk factors for stroke, outcome and rate of recurrence were analyzed. 3 months follow-up of modified Rankin Scales (mRS) were done with telephone survey. DWI positive lesions were present in 14.0% of patients. Etiological factors significantly associated with DWI lesions in TIA patients were male sex (p = 0.038), stroke history (p = 0.012) and atrial fibrillation (p < 0.001). Presence of at least one medium or high risk of cardioembolism from TOAST classification were not associated with lesions when excluding association to atrial fibrillation (p = 0.108). Clinical features showed no significant difference. Whether the patients had lesion-positive DWI was not related to an increase in mRS score during the hospital stay or at the 3-month follow-up after discharge. Future studies should include multi-center samples with large numbers, considering each unique medical environment. Routine acquisition of follow-up DWI for proper evaluation of the tissue-based definition of TIA should also be considered.

• The Korean Journal of Physiology and Pharmacology
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• 제21권4호
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• pp.439-447
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• 2017

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features. Sequence analysis of all coding regions of the patients was performed and mutation, R47W and A298T, was commonly identified. The patients commonly displayed transient muscle weakness and only one patient was diagnosed with autosomal dominant type of myotonia congenita. To investigate the pathological role of the mutation, electrophysiological analysis was also performed in HEK 293 cells transiently expressing homo-or heterodimeric mutant channels. The mutant channels displayed reduced chloride current density and altered channel gating. However, the effect of A298T on channel gating was reduced with the presence of R47W in the same allele. This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. Our results provide clinical features of Korean myotonia congenita patients who have the heterozygous mutation and reveal underlying pathophyological consequences of the mutants by taking electrophysiological approach.