• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.85-91
• /
• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.33-43
• /
• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.3
• /
• pp.78-86
• /
• 2018

Purpose: We aimed to delineate clinical spectrum and short-term effects after enzyme replacement therapy (ERT) for 5 mucopolysaccharidosis type II (MPS II). Methods: Five patients were diagnosed with MPS II by clinical findings, enzyme activity, and genetic testing. Idursulfase was administered by intravenous infusion at a dose of 0.5 mg/kg every week. Observational chart analysis of patients, who underwent systematic investigations more than 12 months after initiation of ERT was done retrospectively. Results: Three patients were classified as having the attenuated type, and 2 patients were classified as having the severe type. The median age at the diagnosis was 9.6 years (range 3.4-26 years). Four different mutations in 5 Korean patients (4 families) with MPS II were identified, among which two were novel mutations (1 small insertion mutation: p.Thr409Hisfs*22, and 1 missense mutation: p.Gly134Glu). Two severe type sibling patients with the same mutation had different clinical manifestation. Urinary glycosaminoglycan excretion decreased within the twelve months of ERT (P=0.043). Liver and spleen volumes showed reductions that were maintained in all patients (P=0.043 and P=0.043, respectively). Improvements were also noted in left ventricular mass index (P=0.042), shoulder flexion (P=0.043), shoulder abduction (P=0.039), knee flexion (P=0.043), elbow flexion (P=0.042), and respiratory distress index (P=0.041). Conclusion: This study demonstrates that Korean patients with MPS II are clinically heterogeneous and indicates that idursulfase is relatively effective in several clinical parameters including heart size and respiratory distress index without infusion-related reactions in patients with MPS II.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.21 no.1
• /
• pp.15-21
• /
• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.21 no.1
• /
• pp.7-14
• /
• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Journal of the Korea Academia-Industrial cooperation Society
• /
• v.13 no.7
• /
• pp.3048-3056
• /
• 2012

The purpose of this study was to investigate VHI, V-RQOL, and vocal characteristics of a teacher and singer. 56 subjects were participated in this study (20 subjects are a teacher with vocal nodule, 20 subjects are a singer with vocal nodule, and 16 subjects are normal speakers). All subjects completed the VHI, V-RQOL, and vocal characteristics were measured using CSL 4500(Kay Pentax. USA). 21 subjects completed the VHI, V-RQOL, and vocal evaluation using CSL 4500 twice to assess test-retest reliability. A statistical analysis was performed using the Statistical Package for Social Sciences 18.0 (SPSS Inc, Chicago, IL). The VHI and V-RQOL showed that the teacher and singer group were significantly higher than those of the control group in functional, physical and emotional aspects(p<0.05). the acoustic analysis using CSL 4500 showed the teacher and singer group were significantly higher than those of the the control group in fundamental frequency related variables, fundamental perturbation related variables, amplitude perturbation related variables, noise related variable, and tremor related variables(p<0.05). Conclusionally, the teacher and singer group recognized their voice problems as a serious physico-functional aspects.

• Korean Journal of Fisheries and Aquatic Sciences
• /
• v.14 no.3
• /
• pp.130-138
• /
• 1981

Discoloration of canned boiled oysters during storage is one of the serious problems which affect the quality of the products as well as the nutritive value. Usually the factors influencing the quality of canned boiled oysters are the process of pretreatments and the storage temperature of the products. In the present work, the changes of the total chlorophylls and carotenoids in the meat and the viscera of oysters were determined in order to make certain the procedure of the discoloration. In addition, the amino-N and the available lysine as factors of the nutritive value were also checked. In case of treatment with additives, direct addition of syrups containing additives just before seaming or soaking boiled oysters into the solution of additives seemed to have mild effects on retardation of discoloration. The migration of carotenoids from the viscera into the meat was faster than that of chlorophyll resulting in yellowing of the Products preceded greening caused by the chlorophylls. Treatment with $0.5\%\; Na_{2}EDTA\;of\;2.5\%$ brine retarded discoloration and available lysine loss of the Products while sodium-polyphosphate accelerated them. It was probably due to that sodium-polyphosphate could affect the softening or breakdown of the muscle of oysters. But most of all, storage temperature of canned boiled oysters seemed to be the major factor influencing the discoloration and nutritive loss of the products.

• Tuberculosis and Respiratory Diseases
• /
• v.41 no.5
• /
• pp.494-503
• /
• 1994

Background: Fibrostenosis of large airway due to tuberculosis is one of the most perplexing clinical problems not only because it can lead to respiratory failure but also because of difficulty in the management. No one technique, such as balloon dilatation or insertion of self expandable metallic stent, has proved totally satisfactory in the management of fibrostenosis. We evaluated the effect of laser therapy in patient with severe fibrostenosis due to tuberculosis. Method: We classified the fibrostenosis to three types by bronchoscopic finding - the diaphragm type: stenosed by fibrous diaphragm, sparing the tracheobronchial wall, the collapse type: stenosed by collapse of the wall due to destruction of the cartilage, and the combined type: stenosed by nonspecific inflammatory scar tissue within internal lumen with collapse of the wall. We have treated 10 patients complaining dyspnea due to with severe fibrostenosis of the diaphargm or the combined type using a neodymiumyttrium aluminum garnet(Nd-Y AG) laser through a flexible bronchoscopy. Results: Eight of the 10 cases improved after laser therapy and maintained during a follow up period of average 31.9 months. All of the cases undergoing laser therapy showed no serious complication to need the therapy. Conclusion: The results of our present study indicate that the Nd-YAG laser therapy is an effective and safe method for the management of selective tuberculous fibrostenosis.

• Journal of Food Hygiene and Safety
• /
• v.33 no.5
• /
• pp.399-403
• /
• 2018

In this study, safety investigations on harmful microorganisms and mycotoxins were conducted on honeybee drone pupae as a new food material, which is rich in nutrients and capable of being mass produced in apiaries. The honeybee drone pupae produced in apiaries were collected from three different regions in Korea and frozen immediately. Subsequently, the samples were subjected to freeze-drying. According to the Korean Food Code test method, coliforms, Salmonella species, Staphylococcus aureus, and enterohemorrhagic Escherichia coli were not detected in 280 honeybee drone pupas. In addition, mycotoxins, aflatoxin $B_1$, ochratoxin A, deoxynivalenol, and zearalenone were not detected. Therefore, it is proposed that the honeybee drone pupae collected from the beehives and immediately frozen as safe from harmful microorganisms and mycotoxins and can be used as a food material.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• v.22 no.1
• /
• pp.92-97
• /
• 2000

Osteosarcoma is a primary malignant tumor arising most often in the long bone, but rare in jaw bone. Especially osteogenic sarcoma of the mandible is a rare tumor, comprising less than 0.5% of all head and neck tumors. Osteosarcoma occurs chiefly in young persons, and presenting very survival rates. Histopathologically this tumor can be classified three types, osteoblastic, fibroblastic, chondroblastic and classified from low grade to high grade by anaplasia or mitosis of the tumor cells. Sometimes, the exact diagnosis of osteosarcoma is difficult especially in low grade osteosarcoma, even if clinical or radiographical findings suggest to osteosarcoma. So suspcious to malignant bone tumor in clinical or radiological findings, biopsy should be taked from deep portion and multiple area, and sharing the patient history and radiographs with pathologist will assist in the development of the diagnosis. We report a case of low grade osteosarcoma on the mandible initially difficulty in accurate diagnosis. The patient visited our hospital for routine dental treatment but radiographic findings displayed ill-defined radiolucency with osteoid formation on the mandible. Final diagnosis was difficulty in initial biopsy but subsequent biopsy taked from deep portion presented infiltrative growth and mitosis of the tumor cell in some area with small osteoid bone formation, so we could reach final diagnosis as low grade sarcoma. We treated this patient with bloc resection of the mandible and immediate reconstruction with iliac corticocancellous block.