• Clinical and Experimental Reproductive Medicine
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• v.46 no.4
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• pp.206-210
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• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• The Journal of the Society of Korean Medicine Diagnostics
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• v.14 no.2
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• pp.25-42
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• 2010

Background and purpose: The chronic diseases caused by lifestyle are on the increase. This study aims to review the eating habits as etiological factors and related symptoms from the perspective of Korean medicine. In this process, we will make a proposal on the treatment of the lifestyle related diseases. Methods: We studied the sentences about the eating habits and related diseases in Donguibogam Results and Conclusions: 1. The eating habits as etiological factors are overeating, irregular eating, late-night foods, fatty & heavy foods, cold foods, alcohols, etc. 2. The diseases caused by the eating habits are not limited to the gastrointestinal diseases(stomachache, vomiting, diarrhea, etc) but include the non-gastrointestinal diseases(edema, arthralgia, anal diseases, eye diseases, ear diseases, diabetes, cancers, etc.) 3. In the treatment of the diseases caused by the eating habits, the special regard should be paid to the etiological factors.

• Journal of Chest Surgery
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• v.50 no.3
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• pp.177-183
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• 2017

Background: To improve postoperative outcomes associated with interstitial pneumonia (IP) in patients with lung cancer, the management of the postoperative acute exacerbation of IP (PAEIP) was investigated. Methods: Patients with primary lung cancer were considered to be at risk for PAEIP (possible PAEIP) based on a preoperative evaluation. The early phase of this study was from January 2001 to December 2008, and the late phase was from January 2009 to December 2014. In the early phase, chest computed tomography (CT) was performed for patients for whom PAEIP was suspected based on their symptoms, whereas in the late phase, chest CT was routinely performed within a few days postoperatively. The numbers of possible PAEIP cases, actual PAEIP cases, and deaths within 90 days due to PAEIP were compared between both phases. Results: In the early and late phases, surgery was performed in 712 and 617 patients, 31 and 72 possible PAEIP cases were observed, nine and 12 actual PAEIP cases occurred, and the mean interval from the detection of PAEIP to starting treatment was $7.3{\pm}2.3$ and $5.0{\pm}1.8$ days, respectively. Five patients died in the early phase, and one patient died in the late phase. Significantly fewer PAEIP-related deaths were observed in the late phase (p<0.05). Conclusion: Identifying patients at risk for PAEIP by routine postoperative CT examinations led to the early diagnosis and treatment of PAEIP, resulting in the reduction of PAEIP-related mortality.

• Clinical and Experimental Pediatrics
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• v.57 no.12
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• pp.514-519
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• 2014

Hemorrhagic cystitis is a common stem cell transplantation-related complication. The incidence of early-onset hemorrhagic cystitis, which is related to the pretransplant conditioning regimen, has decreased with the concomitant use of mesna and hyperhydration. However, late-onset hemorrhagic cystitis, which is usually caused by the BK virus, continues to develop. Although the BK virus is the most common pathogenic microorganism of poststem cell transplantation late-onset hemorrhagic cystitis, pediatricians outside the hemato-oncology and nephrology specialties tend to be unfamiliar with hemorrhagic cystitis and the BK virus. Moreover, no standard guidelines for the early diagnosis and treatment of BK virus-associated hemorrhagic cystitis after stem cell transplantation have been established. Here, we briefly introduce poststem cell transplantation BK virus-associated hemorrhagic cystitis.

• Investigative Magnetic Resonance Imaging
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• v.26 no.1
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• pp.76-81
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• 2022

The number of women undergoing breast augmentation surgery with a prosthesis for cosmetic purposes or reconstruction after a mastectomy is steadily increasing. Hematoma is one of complications associated with breast augmentation surgery. It usually occurs early in the postoperative period. It rarely occurs late (after six months). However, chronic hematomas after prosthesis removal have not yet been reported in the radiological literature. We present a case of unilateral chronic organizing hematoma that developed late and grew persistently over long period after breast explantation, mimicking a soft tissue tumor of the chest wall clinically. Meanwhile, characteristic magnetic resonance imaging features of heterogeneous signal intensities on T1-weighted and T2-weighted images and dark signal intensity with a persistent enhancement of the peripheral wall of the lesion were found. These can be used for a differential diagnosis.

• 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.

• Korean Journal of Psychosomatic Medicine
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• v.3 no.2
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• pp.115-125
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• 1995

Reports about the prevalence of premenstrual symptoms state that occurs in 20 to 100% of most reproductive-age women. There is a close association between premenstrual syndrome and affective disorders as well as same some other psychiatric disorders. Late luteal phase dysphoric disorder (LLPDD) is a premenstrual condition defined in DSM-III-R by severe mood changes and other symptoms that repeatedly occur only in the luteal phase of the menstrual cycle. However, DSM-III-R does not specify how to compute the change from the follicular to the luteal phase or how to determine when the amount of change is great enough to warrant the diagnosis nor how to determine occupational or social functional impairment. This study was conducted to evaluate the nature, severity and magnitude of premenstrual syndrome in women with current psychiatric disorders by using prospective Daily Rating Form(DRF), and to measure symptom changes according to three scoring methods for diagnosing LLPDD. Our study obtains the data about premenstrual changes estimated by DRF from 22 women with psychiatric disorders who had met criteria for major depressive syndrome on the Premenstrual Assessment Form (PAF). The data was scored by each three methods and was determined to meet criteria A for LLPDD. The results are as follows: 1) the subjects, when scored according to the percent change method, effect size method and absolute severity method, met the DSM-III-R criteria A for LLPDD in 36.4% (8 subjects), 14% (3 subjects) and 4.5% (1 subject) of the cases respectively. 2) The items of irritability, anger and impatience were occurred most frequently on the DRF, when it was scored according to the three scoring methods. And the item of breast pain was next frequent according to the effect size method and the percent change method but according to the absolute severity method. 3) The PAF item of impaired social functioning was reported by 16 (73%) of the subjects. 4) 4 (18%) of the subjects met criteria A for LLPDD and reported impaired social functioning. The prevalency of LLPDD according to each method varied. The percent change method yielded the greatest (36.4%), and the absolute seventy method yielded the laest (4.5%), The effect size method yielded an intermediate frequency (14%). Therefore, for maximizing the diagnostic accuracy of LLPDD, a diagnostic procedure including a measure of change (e.q., effect size method, percent change method) as well as confirmed diagnosis by DRF, will be needed. Also, an accurate tool to evaluate impaired social functioning will be required.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.7
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• pp.3159-3163
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• 2012

Background: For cervical cancer the epidemiological profile is poorly known in Morocco and no data is available concerning the direct medical costs. The purpose of this work is to estimate the direct cost of medical management of invasive cervical cancer during the first year after diagnosis in Morocco. Methods: The estimation of direct costs of medical management of invasive cervical cancer during the first year after diagnosis in Morocco is based on the estimation of individual cost in each stage which covers diagnosis, treatment and follow-up during first year. The cost was estimated per patient and whole cycle-set using the costs for each drug and procedure as indicated by the Moroccan National Agency for Health Insurance. Extrapolation of the results to the whole country was used to calculate the total annual cost of cervical cancer treatments in Morocco. Results: Overall approximately 1,978 new cases of cervical cancer occur each year in Morocco. The majority (82.96%) of these cases were diagnosed at a late stage (stageII or more). The cost of one case of cervical cancer depends on stage of diagnosis, the lowest cost is $382 for stageCis followed by the cost of stageIA1 for young women (< 40 years) which is $2,952. The highest cost is for stageIV, which is $7,827. The total cost of cervical cancer care for one year after diagnosis is estimated at $13,589,360. The share allocated to treatment is the most important part of the global care budget with an annual sum of $13,027,609 whereas other cost components are represented as follows: $435,694 for annual follow-up activity and $126,057 for diagnosis and preclinical staging. Conclusion: This study provides health decision-makers with a first estimate of costs and the opportunity to achieve the optimal use of available data to estimate the needs of health facilities in Morocco.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.19-22
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• 2016

Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.

• Korean Chemical Engineering Research
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• v.60 no.2
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• pp.223-228
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• 2022

In chemical processes, unintended faults can make serious accidents. To tackle them, proper fault diagnosis models should be designed to identify the root cause of faults. To design a fault diagnosis model, a process and its data should be analyzed. However, most previous researches in the field of fault diagnosis just handle the data set of benchmark processes simulated on commercial programs. It indicates that it is really hard to get fresh data sets on real processes. In this study, real faulty conditions of an industrial polystyrene process are tested. In this process, a runaway reaction occurred and this caused a large loss since operators were late aware of the occurrence of this accident. To design a proper fault diagnosis model, we analyzed this process and a real accident data set. At first, a mode classification model based on support vector machine (SVM) was trained and principal component analysis (PCA) model for each mode was constructed under normal operation conditions. The results show that a proposed model can quickly diagnose the occurrence of a fault and they indicate that this model is able to reduce the potential loss.