• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.27-35
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• 2021

Generally, a proper evaluation method of the aging phenomenon of PV modules is required as the electrical performance and lifespan of PV modules can degrade significantly due to several environmental factors, while they are generally known as devices that are used semi-permanently for more than 20 years. On the other hand, there is a lack of objectivity in the existing evaluation method of the aging phenomenon, which compares the adjusted PV output based on STC with the initial PV module specifications due to the data distortion while adjusting the measured data. Therefore, this study implemented a test device for an aging diagnosis to measure and collect actual data from a PV module section and modeled the data for aging using MATLAB S/W to minimize the variability of the PV output, communication error, and delay. Furthermore, this study confirmed the usefulness of the presented test device for aging diagnosis of the PV modules by diagnosing the total period and yearly-basis degradation rate of aging PV modules as 25.73% and 1.55%, respectively, according to the on-site output characteristics of the PV modules by season.

• Tuberculosis and Respiratory Diseases
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• v.44 no.4
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• pp.766-775
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• 1997

Background : Primary malignant tumors of the trachea are extremely rare entities and account for a mere 0.1 per cent of all malignancies of the respiratory tract. Because of vague localizing signs, symptoms and a usually negative routine chest film, the patients with tracheal tumors are often treated for asthma or chronic obstructive pulmonary disease for considerable period of time before correct diagnosis. Method : We have made a review of the 17 cases of primary tracheal tumors in recent 15 years. We reviewed the clinical features including history of smoking and respiratory symptoms, the official readings of initial routine chest film, the cytologic examination of sputum, the time of delay in diagnosis, and the response according to the therapeutic modalities. Results : Eight out of 9 patients with squamous cell carcinoma(SCC) were above 50 years old, five out of 6 patients with adenoid cystic carcinoma(ACC) were below 50 years old. The most common location of primary tracheal tumors was the upper one-third of trachea in 8 cases(47%). The most frequent symptoms were dyspnea in 13/17 cases(76%) and then stridor or wheezing, cough. and sputum in order. The routine chest roentgenographic examinations were not helpful to diagnose tracheal carcinoma and the cytologic examinations of sputums were helpful to diagnose tracheal carcinoma in only one case with adenocarcinoma. The mean times of delay in diagnosis of patients with sec and ACC were 5 months and 24.9 months respectively. We had bronchial asthma in 8 cases(47%) and tracheal tumors in 4 cases(23%) as initial clinical impression. Conclusion : We would like to perform more comprehensive diagnostic tools(high KVP technique, the fibroptic bronchoscopic examination, chest CT scan etc.) in patients who had the suggestive points for the tracheal tumorse(1. unexplained hemoptysis or hoarsness, 2. inspiratory wheezing or stridor, 3. wax and waning of dyspnea according to changes of position, 4. progressive asthmatics unresponsive to antiasthmatic therapy) and radical resection of tumor or external radiation therapy with curative aim as possible.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.2
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• pp.145-157
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• 1999

This study was performed by the children and adolescents who were abused or neglected physically, emotionally that were selected in child & adolescents psychiatric ward. We investigated the number of these case in admitted children & adolescents, and also observed characteristics of symptoms, developmental history, characteristics of abuse style, characteristics of abusers, family dynamics and psychopathology. We hypothesized that all kinds of abuse will influnced to emotional, behavioral problems, developmental courses on victims, interactive effects on family dynamics and psychopathology. That subjects were 22 persons of victims who be determined by clinical observation and clinical note. The results of the study were as follows：1) Demographic characteristics of victims：ratio of sex was 1：6.3(male：female), mean age was $11.1{\pm}2.5$. According to birth order, lst was 12(54.5%), 2nd was 5(23%), 3rd was 2(9%) and only child was 3(13.5%). 2) Characteristics of family：According to socioeconomic status, middle to high class was 3(13.5%), middle one was 9(41.% ), middle to low one was 9(41%), low one was 1(0.5%). according to number of family, under the 3 person was 3(13.5%), 4-5 was 17(77.5%), 6-7 was 2(9%). according to marital status of parents, divorce or seperation were 5(23%), remarriage 2(9%), severe marital discord was 19(86.5%). In father, antisocial behavior was 7(32%), alcohol dependence was 10(45.5%). In mother, alcohol abuse was 5(23%), depression was 17(77.3%), history of psychiatric management was 6(27%). 3) Characteristics of abuse：Physical abuse was 18(81.8%), physical and emotional abuse and neglect were 4(18.2%). according to onset of abuse, before 3 years was 15(54.5%), 3-6 years was 5(27.5%), schooler was 1(15%). Only father offender was 2(19%), only mother offender was 8(35.4%), both offender was 8(35.4%), accompaning with spouse abuse was 7(27%), and accompaning with other sibling abuse was 4(18.2%). 4) General characteristics and developmental history of victims：Unwanted baby was 12(54.5%), developmental delay before abuse was9(41%), comorbid developmental disorder was 15(68%). there were 6(27.5%) who didn‘t show definite sign of developmental delay before abuse. 5) Main diagnosis and comorbid diagnosis：According to main diagnosis, conduct disorder 6(27.3%), borderline child 5(23%), depression4(18%), attention deficit hyperactivity disorder(ADHD) 4(18%), pervasive developmental disorder not otherwise specified 2(9%), selective mutism 1(5%). According to comorbid diagnosis, ADHD, borderline intelligence, mental retardation, learning disorder, developmental language disorder, oppositional defiant disorder, chronic tic disorder, functional enuresis and encoporesis, anxiety disorder, dissociative disorder, personality disorder due to medical condition. 5) Course of treatment：A mean duration of admission was $2.4{\pm}1.5$ months. 11(15%) showed improvement of symtoms, however 11(50%) was not changed of symtoms.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8135-8142
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• 2014

Background: Breast cancer is the most common cancer in Iranian women and usually features delayed presentation and late diagnosis. Interpretation of symptoms, as the most important step, has a significant impact on patient delay in seeking treatment. There is a dearth of studies on symptom appraisal and the process leading to seeking help in breast cancer patients. This study explored the perceptions and experiences of Iranian women with self-detected possible breast cancer symptoms. Materials and Methods: A qualitative method was conducted involving in-depth semi-structured interviews with 27 Iranian women with self-discovered breast cancer symptoms. Participants were purposefully selected from women who attended Cancer Institute of Tehran University of Medical Sciences during June 2012 to August 2013. The audiotaped interviews were transcribed and analyzed using conventional content analysis with MAXQDA soft ware version 10. The trustworthiness of the study was verified by prolonged engagement, member validation of codes, and thick description. Results: The main concepts emerging from data analysis were categorized in four categories: symptom recognition, labeling of symptoms, interactive understanding, and confronting the fear of cancer. Symptom recognition through breast self-examination, symptom monitoring and employing prior knowledge distinguished normal from abnormal symptoms and accompanied with perception of being at risk of breast cancer led to symptom labeling. Social interaction by selective disclosure and receiving reassurance from a consultant led to confirmation or redefinition of the situation. Perceived seriousness of the situation and social meanings of breast cancer as a stigmatized and incurable illness associated with loss of femininity were reasons for patient worries and fear. Conclusions: This study emphasized that entangled cognitive, emotional and socio-cultural responses affecting understanding of symptom seriousness require further investigation. It is suggested that programs aimed at shortening patient delay in breast cancer should be focused on improving women's knowledge and self-awareness of breast cancer, in addition to correcting their social beliefs.

• Journal of radiological science and technology
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• v.26 no.3
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• pp.25-31
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• 2003

This study was performed to evaluate the usefulness of Deconvolution perfusion CT in patients with acute cerebral infarction. Nine patients with acute cerebral infarction underwent conventional CT and cerebral perfusion CT within 23 hours of the onset of symptoms. The perfusion CT scan for each patient was obtained at the levels of basal ganglia and 1cm caudal to the basal ganglia. By special imaging software, perfusion images including cerebral blood volume(CBV), cerebral blood flow(CBF), and mean transit time(MTT) maps were created. The created lesions were evaluated on each perfusion maps by 3 radiolocical technician. MTT delay time was measured in the perfusion defect lesion and symmetric contralateral normal cerebral hemisphere. Lesion sire were measured on each perfusion map and compared with the value obtained by diffusion weighted MR imaging(DWMRI). All perfusion CT maps showed the perfusion defect lesion in all patients. There were remarkable CT delay in perfusion defect lesion. In comparison of lesion size between each perfusion map and DWMRI, the lesion on CBF map was the most closely correlated with the lesion on DWMRI(7/9). The size of perfusion defect lesion on MTT map was larger than that of lesion on DWMRI, suggesting that m map can evaluate the ischemic penumbra. Deconvolution Perfusion CT maps make it possible to evaluate not only ischemic core and ischemic penumbra but also hemodynamic status in perfusion defect area. These results demonstrate that perfusion CT can be useful to the diagnosis and treatment in the patients with acute cerebral ischemic infarction.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7467-7472
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• 2015

Background: Breast cancer is known to be one of the most prevalent cancers among women in both developing and developed countries. The incidence of breast cancer in Pakistan has increased dramatically within the last few years and is the second country after Israel in Asia to have highest proportional cases of breast cancer. However, there are limited data for breast cancer available in the literature from Pakistan. Objectives: The study was conducted to bring to light the common clinical presentation of breast cancer and to evaluate the frequency of established risk factors in breast carcinoma patients and furthermore to compare the findings between premenopausal and postmenopausal women in Pakistan. Materials and Methods: A 6 months (from July 2012 to Dec 2012) cross sectional survey was conducted in Surgical and Oncology Units of Civil Hospital, Karachi. Data were collected though a well developed questionnaire from 105 female patients diagnosed with carcinoma of breast and analyzed using SPSS version 17. Institutional ethical approval was obtained prior to data collection. Results: Out of 105 patients, 43 were premenopausal and 62 were postmenopausal, 99 being married. Mean age at diagnosis was $47.8{\pm}12.4years$. A painless lump was the most frequent symptom, notived by 77.1%(n=81). Some 55.2% (n=58) patients had a lump in the right breast and 44.8%(n=47) in the left breast. In the majority of cases, the lump was present in upper outer quadrant 41.9% (n=44). Mean period of delay from appearance of symptoms to consulting a doctor was $5.13{\pm}4.8months$, from the shortest 1 month to the longest 36 months. Long delay (> 3 months) was the most frequent figure 41.9%. Considering overall risk factors most frequent were first pregnancy after 20 years of age (41%), physical breast trauma (28.6%), lack of breast feeding(21.9%), and early menarche <11 years (19%), followed by null parity (16.2%), consumption of high fat diet (15.2%), family history of breast cancer or any other cancer in first degree relatives (9.5% and 13.3%, respectively). Some of the less common factors were late menopause >54 years (8.6%), use of oral contraceptive pills (10.5%), use of hormone replacement therapy (4.7%),smoking (4.7%) and radiation (0.96%). Significant differences (p<0.005) were observed between pre and post menopausal women regarding history of physical breast trauma, practice of breast feeding and parity. Conclusions: A painless lump was the most frequent clinical presentation noted. Overall age at first child > 20 years, physical breast trauma, lack of breast feeding, early menarche <11 were the most frequent risk factors. Physical breast trauma, lower parity, a trend for less breast feeding had more significant associations with pre-menopausal than post-menopausal onset. Increase opportunity of disease prevention can be obtained through better understanding of clinical presentation and risk factors important in the etiology of breast cancer.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1342-1345
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• 2008

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients with MLC present with macrocephaly and neurological abnormalities such as motor deterioration, ataxia, spasticity, and cognitive deficits. We report a twenty-month-old boy who presented with seizures and macrocephaly, delay in development, and abnormal brain MRI findings compatible with the diagnosis of MLC. The brain MRI revealed bilateral hypersignal intense subcortical white matter regions in the frontal, temporal, and parietal lobes on T2-weighted images, which were not yet associated with cystic changes. During follow-up, the frequency of seizures decreased after anticonvulsant medication was started, but the head circumference remained above the 97th percentile, and the patient continued to have developmental delay.

• Korean Journal of Radiology
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• v.23 no.11
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• pp.1067-1077
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• 2022

Objective: To determine whether Sonazoid-enhanced ultrasound (SZUS) was noninferior to SonoVue-enhanced ultrasound (SVUS) in diagnosing hepatocellular carcinoma (HCC) using the same diagnostic criteria. Materials and Methods: This prospective, single-center, noninferiority study (NCT04847726) enrolled 105 at-risk participants (71 male; mean age ± standard deviation, 63 ± 11 years; range, 26-86 years) with treatment-naïve solid hepatic nodules (≥ 1 cm). All participants underwent same-day SZUS (experimental method) and SVUS (control method) for one representative nodule per participant. Images were interpreted by three readers (the operator and two independent readers). All malignancies were diagnosed histopathologically, while the benignity of other lesions was confirmed by follow-up stability or pathology. The primary endpoint was per-lesion diagnostic accuracy for HCC pooled across three readers using the conventional contrast-enhanced ultrasound diagnostic criteria, including arterial phase hyperenhancement followed by mild (assessed within 2 minutes after contrast injection) and late (≥ 60 seconds with a delay of 5 minutes) washout. The noninferiority delta was -10%p. Furthermore, different time delays were compared as washout criteria in SZUS, including delays of 2, 5, and > 10 minutes. Results: A total of 105 lesions (HCCs [n = 61], non-HCC malignancies [n = 19], and benign [n = 25]) were evaluated. Using the 5-minutes washout criterion, per-lesion accuracy of SZUS pooled across the three readers (72.4%; 95% confidence interval [CI], 64.1%-79.3%) was noninferior to that of SVUS (71.4%; 95% CI, 63.1%-78.6%), meeting the statistical criterion for non-inferiority (difference of 0.95%p; 95% CI, -3.8%p-5.7%p). The arterial phase hyperenhancement combined with the 5-minutes washout criterion showed the same sensitivity as that of the > 10-minutes criterion (59.0% vs. 59.0%, p = 0.989), and the specificities were not significantly different (90.9% vs. 86.4%, p = 0.072). Conclusion: SZUS was noninferior to SVUS for diagnosing HCC in at-risk patients using the same diagnostic criteria. No significant improvement in HCC diagnosis was observed by extending the washout time delay from 5 to 10 minutes.