• Journal of Genetic Medicine
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• v.5 no.2
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• pp.111-118
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• 2008

Purpose: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that may result from these diseases. In this study, a cost-benefit analysis was performed on the neonatal screening of maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia in Korea. Materials and Methods: This study included 1,259,220 Korean newborns born between January 2005 to December 2007, who were screened for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia. We calculated and compared the total costs in cases where these four screening tests were implemented, and those where they were not. Results: There were no benefits to screening for maple syrup urine disease or homocystinuria due to their low prevalence for these two tests, the costs exceeded the benefits at benefit:cost ratios of 0.5:1 and 0.6:1, respectively. In contrast, benefits far exceed costs at a ratio of 4.1:1 for galactosemia and 2.9:1 for congenital adrenal hyperplasia. The average benefit:cost ratio for all four tests was 2.0:1. Conclusion: Neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia are financially viable.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7863-7867
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• 2014

Background: Retinoblastoma is a rare type of cancer that usually develops in early childhood. If left untreated it can cause blindness and even death. The aim of this study is to determine sociodemographic and clinical features of retinoblastoma patients and also to determine the treatment pattern and outcome in Malaysia. Materials and Methods: Data for this study were retrieved from the Retinoblastoma Registry of the National Eye Database (NED) in Malaysia. Hospital Kuala Lumpur, Hospital Umum Kuching, Sarawak and Hospital Queen Elizabeth, Kota Kinabalu were the major source data providers for this study. Data collected in the registry cover demography, clinical presentation, modes of treatment, outcomes and complications. Results: The study group consisted of 119 patients (162 eyes) diagnosed with retinoblastoma between 2004 and 2012. There were 68 male (57.1%) and 51 (42.9%) female. The median age at presentation was 22 months. A majority of patients were Malays (54.6%), followed by Chinese (18, 5%), Indians (8.4%), and indigenous races (15.9%). Seventy six (63.8%) patients had unilateral involvement whereas 43 patients had bilateral disease (36.1%). It was found that most children presented with leukocoria (110 patients), followed by strabismus (19), and protopsis (12). Among the 76 with unilateral involvement (76 eyes), enucleation was performed for a majority (79%). More than half of these patients had extraocular extension. Of the 40 who received chemotherapy, 95% were given drugs systemically. Furthermore, in 43 patients with bilateral involvement (86 eyes), 35 (41%) eyes were enucleated and 17 (49%) showed extraocular extension. Seventy-two percent of these patients received systemic chemotherapy. The patients were followed up 1 year after diagnosis, whereby 66 were found to be alive and 4 dead. Sixteen patients defaulted treatment and were lost to follow-up, whereas follow-up data were not available in 33 patients. Conclusions: Patients with retinoblastoma in this middle-income Asian setting are presenting at late stages. As a result, a high proportion of patients warrant aggressive management such as enucleation. We also showed that a high number of patients default follow-up. Therefore, reduction in refusal or delay to initial treatment, and follow-up should be emphasized in order to improve the survival rates of retinoblastoma in this part of the world.

• Horticultural Science & Technology
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• v.30 no.3
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• pp.270-277
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• 2012

Greenhouse industry has been growing in many countries due to both the advantage of stable year-round crop production and increased demand for fresh vegetables. In greenhouse cultivation, $CO_2$ concentration plays an essential role in the photosynthesis process of crops. Continuous and accurate monitoring of $CO_2$ level in the greenhouse would improve profitability and reduce environmental impact, through optimum control of greenhouse $CO_2$ enrichment and efficient crop production, as compared with the conventional management practices without monitoring and control of $CO_2$ level. In this study, a mathematical model was developed to estimate the $CO_2$ emission from soil as affected by environmental factors in greenhouses. Among various model types evaluated, a linear regression model provided the best coefficient of determination. Selected predictor variables were solar radiation and relative humidity and exponential transformation of both. As a response variable in the model, the difference between $CO_2$ concentrations at the soil surface and 5-cm depth showed are latively strong relationship with the predictor variables. Segmented regression analysis showed that better models were obtained when the entire daily dataset was divided into segments of shorter time ranges, and best models were obtained for segmented data where more variability in solar radiation and humidity were present (i.e., after sun-rise, before sun-set) than other segments. To consider time delay in the response of $CO_2$ concentration, concept of time lag was implemented in the regression analysis. As a result, there was an improvement in the performance of the models as the coefficients of determination were 0.93 and 0.87 with segmented time frames for sun-rise and sun-set periods, respectively. Validation tests of the models to predict $CO_2$ emission from soil showed that the developed empirical model would be applicable to real-time monitoring and diagnosis of significant factors for $CO_2$ enrichment in a soil-based greenhouse.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.78-86
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• 2015

Purpose: Homocystinuria (OMIM#236200) is a metabolic disease caused by mutation in the CBS gene. This study was conducted to identify the clinical features and prognosis of homocystinuria as well as to find out the CBS gene mutations of the six homocystinuria patients who were receiving treatment in the Pediatric Department at Soonchunhyang University Hospital. Methods: From January 1992 to March 2015, clinical, biochemical, and genetic analyses were performed retrospectively on the six patients diagnosed with classic homocystinuria at Soonchunhyang University Hospital. Results: A total of six patients were included in this study, including three who were diagnosed with homocystinuria at the mean age of $50{\pm}22.5$ days based on their abnormal newborn screening test results. The other three were diagnosed at the mean age of 7, when they visited the hospital for evaluation of developmental delay and lens dislocation. The group diagnosed at early infancy had normal cognitive function, but the other group had varying degrees of mental retardation. Major complications were found only in the group diagnosed after infancy. CBS gene mutation was found in all the patients, and they were all non-responsive to vitamin B6 treatment. At present, all patients' diets are controlled following a methionine-free formula and they are on medication with folic acid, betaine, pyridoxine, and methylcobalamin. Conclusion: Six homocystinuria patients were monitored for up to 23 years. The group diagnosed at early infancy exhibited no major complications. Therefore, early diagnosis is crucial in the prognosis, and homocystinuria must be included in the newborn screening program.

• Radiation Oncology Journal
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• v.7 no.1
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• pp.71-76
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• 1989

A patient with primary adenocarcinoma of Bartholin's gland is reported and the literatures relevant to this disease reviewed. Not only this disease is very rare but also primary carcinomas of Bartholin's gland are misdiagnosed as cysts or abscesses in half of the cases, leading to considerable delay in diagnosis. And so, It was wasted long time before definitive therapy. However, because of a different clinical behavior, cancer of the Bartholin's gland should be distinguished from other vulvar carcinomas. Histologically, squamous cell carcinoma and adenocarcinoma are the most common. Virtually all histologic types of Bartholin's gland carcinoma metastasize to lymph node, bone, lung and liver in distant sites. The authors data and a review of the literature support the concept that radical vulvectomy with or without bilateral inguinal-femoral lymphadenectomy is required. On the other hand, except primary radiation treatment for small or medium sized cancers, the results obtained by radiation therapy in carcinoma of the vulva including Bartholin's gland are generally discouraging. A role for postoperative adjuvant radiation therapy suggests because of high incidence of positive inguinal-femoral Iymph nodes. In the near time, natural history and biological behavior of Bartholin's gland cancer must be disclosed in detail. And also optimal treatment modality and prognostic factors shall be determine.

• The Journal of Korean Academy of Sensory Integration
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• v.13 no.2
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• pp.53-61
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• 2015

Objective : The purpose of this study was to investigate the effects on sensory integration interventions for korean children which focused on vestibular - proprioceptive system. Methods : Authors systematically searched published studies in DBpia, KISS and RISS databases from August to September 2015. Key words in the search were 'sensory integration intervention', 'sensory integration therapy' and 'vestibular-proprioceptive'. By using the inclusion and exclusion criteria, we selected seven studies for further analyses examining level of evidence and methodological qualities. Information for the analyses were on study designs, participants, interventions, outcome measures and results. Results : Grade IV rated evidence was found from five studies, and Grade III and Grade V rated evidence was found from one for each study. The methodological levels of the quantitative studies were 'fair' (2) and 'poor' (5). Subjects for the studies were developmental delay (5), Asperger Syndrome (1), and not specific diagnosis (2). Single-subject design was most frequently used and motor area were most frequently evaluated. The interventions used the studies showed positive effects on outcome measures. Conclusion : This study presented the summary of sensory integration intervention based on vestibular-proprioceptive system for Korean children. More studies with high level of evidence and various study designs need to be followed.

• Clinics in Shoulder and Elbow
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• v.16 no.2
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• pp.130-134
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• 2013

A painful pseudoarthrosis will develop due to a delay in diagnosis and treatment, and surgical care is required. Treatment of pseudoarthrosis is really difficult because the acromion is a thin flat bone that is difficult to be fixed firmly. A 52-year-old woman with multiple trauma had an acromial fracture that was not detected until it had caused pain after ambulation. Open reduction and internal fixation with a variable angle locking compression plate for distal radius and autogenous iliac bone graft were performed. At nine months after the operation, there was partial tear in the supraspinatus tendon, and arthroscopic repair of the supraspinatus tendon was performed. At nine months after the operation, radiographs showed a complete union. At three months after tendon repair, the patient had excellent function of the shoulder. We have reported a case of a successful treatment of nonunion and pseudoarthrosis of acromial fracture that is difficult to be fixed.

• 한국균학회소식:학술대회논문집
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• 2014.10a
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• pp.13-13
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• 2014

Species belonging to the genus Fusarium are widely distributed and cause diseases in many plants. Isolation of fungal strains from air or cereals is necessary for disease forecasting, disease diagnosis, and population genetics [1]. Previously we showed that Fusarium species are resistant to toxoflavin produced by the bacterial rice pathogen Burkholderia glumae while other fungal genera are sensitive to the toxin, resulting in the development of a selective medium for Fusarium species using toxoflavin [2]. In this study, we have tried to elucidate the resistant mechanism of F. graminearum against toxoflavin and interaction between the two pathogens in nature. To test whether B. glumae affects the development of F. graminearum, the wild-type F. graminearum strains were incubated with either the bacterial strain or supernatant of the bacterial culture. Both conditions increased the conidial production five times more than when the fungus was incubated alone. While co-incubation resulted in dramatic increase of conidial production, conidia germination delayed by either the bacterial strain or supernatant. These results suggest that certain factors produced by B. glumae induce conidial production and delay conidial germination in F. graminearum. To identify genes related to toxoflavin resistance in F. graminearum, we screened the transcriptional factor mutant library previously generated in F. graminearum [3] and identified one mutant that is sensitive to toxoflavin. We analyzed transcriptomes of the wild-type strain and the mutant strain under either absence or presence of toxoflavin through RNAseq. Expression level of total genes of 13,820 was measured by reads per kilobase per million mapped reads (RPKM). Under the criteria with more than two-fold changes, 1,440 genes were upregulated and 1,267 genes were down-regulated in wild-type strain than mutant strain in response to toxoflavin treatment. A comparison of gene expression profiling between the wild type and mutant through gene ontology analysis showed that genes related to metabolic process and oxidation-reduction process were highly enriched in the mutant strain. The data analyses will focus on elucidating the resistance mechanism of F. graminearum against toxoflavin and the interaction between the two pathogens in rice. Further evolutionary history will be traced through figuring out the gene function in populations and in other filamentous fungi.

• The Journal of Korean Academy of Sensory Integration
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• v.18 no.2
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• pp.55-68
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• 2020

Objective : The purpose of this study is to summarize the best-available intervention evidence for children's sensory integration therapy, drawn from studies published domestically in Korea over the last 10 years. Methods : The articles evaluated in this study were collected from the RISS and DBpia databases using the search terms "sensory integration," "sensory processing," and "Ayres Sensory Integration (ASI)". A total of 19 papers were analyzed. The selected studies were then assessed using the Population, Intervention, Outcomes, and Comparison method, the International Classification of Functioning, Disability and Health (ICF) method, and the modified Evidence Alert Traffic Light Grading System. Results : Development delay was the most commonly applied diagnosis for children's sensory integration therapy and individual sensory integration therapy was the most frequently used intervention method. The intervention effect was 91 percent in the body structure and function of ICF. The areas concentrated on were sensory modulation, sensory processing, fine and gross motor, body scheme, body-self concept, balance, basic movement, postural control and hand function, attention, and self-esteem. Conclusion : This simple overview of the efficacy of children's sensory integration therapy provides a basis for easy understanding and use by therapists, researchers and families with children.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.56-62
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• 2014

Purpose: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. Materials and Methods: We retrospectively reviewed the medical records of patients who underwent first trimester fetal karyotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness ${\geq}3.0mm$ between 11 weeks and 13 weeks 6 days' gestation, at Gyeongsang National University Hospital. Pediatric medical records and a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS for other indications. Results: Seventy cases met the inclusion criteria (median NT thickness, 4.7 mm; range, 3.0-16.1 mm). Twenty-nine cases (41.4%) were aneuploid. The prevalence of chromosomal defects increased with NT thickness: NT 3.0-3.4 mm, 16.7%; NT 3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT ${\geq}6.5mm$, 62.5%. The most common karyotype abnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal death occurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomically normal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increased NT were alive and well at follow-up (40%). Conclusion: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalence of chromosomal defects associated with increased fetal NT implies that CVS should be performed in the first trimester, particularly considering the stress associated with an uncertain diagnosis.