• Clinical and Experimental Reproductive Medicine
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• 제46권4호
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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.

• Restorative Dentistry and Endodontics
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• 제44권2호
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• pp.14.1-14.7
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• 2019

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder caused by a deficiency in enzymes that participate in the degradation of glycosaminoglycans (GAGs) such as heparin sulfate and dermatan sulfate. Left untreated, patients show progressive mental and physical deterioration due to deposition of GAGs in organs. Death often occurs due to cardiac or respiratory failure before patients reach their early twenties. MPS has several oral and dental manifestations. An enlarged head, short neck, and open mouth associated with a large tongue are major characteristics of MPS patients. Dental complications can be severe, including unerupted dentition, dentigerous cyst-like follicles, malocclusions, condylar defects, and gingival hyperplasia. A 21-year-old female patient with MPS was described in this article, with special emphasis on oral manifestations and dental treatment.

• 한국산림과학회지
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• 제88권3호
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• pp.335-341
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• 1999

만성적인 대기오염의 영향을 받고 있는 여천산업단지 지역에서 15개 해송임분을 선정하여 당년생 엽과, 1년생 엽중 수용성 유황의 축적과 질소, 인, 칼륨, 칼슘, 마그네슘 등 무기양료의 함량변화를 파악하였다. 수용성 유황 함량은 당년생 엽이 0.11% - 0.35%. 1년생 엽이 0.13% - 0.32%로서 전 지역에서 대조지역보다 높았다. 질소의 강우 당년생 엽은 0.60% - 1.42%로써 7개 지점에서, 1년생 엽은 0.58% - 0.88%로써 전 지역에서 대조구에 비해 그 함량이 낮아 1년생 엽에서의 질소 결핍이 뚜렷하였다. 인과 칼륨의 경우에는 일부 지역에서 대조구에 비하여 함량이 낮은 수준을 보였다. 칼슘은 당년생 엽에서는 0.12% - 0.35%로 8개 지역에서, 1년생 엽에서는 0.20% 0.37%로써 9개 지역에서 대조구보다 낮았다. 마그네슘은 당년생 엽에서 0.08% - 0.15%로 2개 지역에서, 1년생 엽에서는 0.06% - 1.11%로써 12개 지역에서 결핍증세를 보였다. 대조구를 제외한 15개 지점에 대해서 각 분석 항목이 상관관계를 살펴본 결과 당년생 엽의 경우에 칼슘과 마그네슘은 유황이 축척될수록 유의적으로 감소하였다. 1년생 엽의 경우에는 질소, 칼륨, 칼슘, 마그네슘의 함량이 수용성 유황함량과 유의적인 부의 상관을 나타내 여천산업단지에서 배출되는 황화합물의 퇴적이 해송의 양료상태를 교란시켜 해송림의 쇠퇴에 영향을 미치는 것으로 파악되었다.

• Journal of Applied Biological Chemistry
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• 제63권4호
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• pp.451-455
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• 2020

Testosterone deficiency syndrome (TDS), also known as late-onset hypogonadism, is a clinical and biochemical syndrome associated with advanced age and characterized by deficient serum testosterone levels. The Elaeagnus multiflora fruit (EMF) and Cynanchum wilfordii (CW) have been used in traditional herbal medicine. This study aimed to investigate the therapeutic effects of EMF and CW mixtures (at the ratios of 3:7, 5:5, and 7:3) on TDS using TM3 cells and aging male rats. EMF, and mixtures of EMF and CW (at the ratios of 3:7, 5:5, and 7:3) significantly increased testosterone levels in TM3 cells (p <0.05). The rats were orally administered EMCW (EMF and CW mixed at the ratio of 3:7 50, 100 and 200 mg/kg/day) for 4 weeks consecutively. After 4 weeks of EMCW administration, latency time on the rotarod test, and serum testosterone and dehydroepiandrosterone sulfate levels were significantly increased (p <0.05 and p <0.01). Moreover, the levels of globulin-bound sex hormones were decreased in the EMCW-fed groups. However, prostate-specific antigen levels did not differ among the groups. These results suggest that EMCW can be effectively used to alleviate TDS.

• Journal of Interdisciplinary Genomics
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• 제2권2호
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• pp.20-25
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• 2020

Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a multisystem lysosomal storage disease that is inherited in an autosomal recessive manner. It consists of four subtypes (MPS IIIA, B, C, and D), each characterized by the deficiency of different enzymes that catalyze the metabolism of the glycosaminoglycan heparan sulfate at the lysosomal level. The typical clinical manifestation of MPS III includes progressive central nervous system (CNS) degeneration with accompanying systemic manifestations. Disease onset is typically before the age of ten years and death usually occurs in the second or third decade due to neurological regression or respiratory tract infections. However, there is currently no treatment for CNS symptoms in patients with MPS III. Invasive and non-invasive techniques that allow drugs to pass through the blood brain barrier and reach the CNS are being tested and have proven effective. In addition, the application of genistein treatment as a substrate reduction therapy is in progress.

• 한국생물공학회:학술대회논문집
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• 한국생물공학회 2001년도 추계학술발표대회
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• pp.438-440
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• 2001

Ferritin an iron-storage protein. is found in bacteria and some animal tissues such as liver, spleen and bone marrow. It is more effective and causes less side reactions than traditional ferrous sulfate, which has been used primarily to treat iron deficiency in pregnancy anemia. Currently, the ferritin extracted from bovine and equine spleens are sold as a commercial product. Its markets are several hundreds of million US dollars. However, because of recent warnings against the viral diseases of animal origins such as mad cow disease, a safer ferritin is sought after. In this study, a production process for human ferritin was successfully developed. The amount of its produced in yeast is high enough to be economically viable.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.16-23
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• 2021

GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous system degeneration where ganglioside synthesis is highest. The accumulation of keratan sulfate is the suspected cause of the bone findings in Morquio B disease. GM1 gangliosidosis is clinically characterized by a neurodegenerative disorder associated with dysostosis multiplex, while Morquio B disease is characterized by severe skeletal manifestations and the preservation of intelligence. Morquio B disease and GM1 gangliosidosis may be on a continuum of skeletal involvement. There is currently no effective treatment for GLB1-related disorders. Recently, multiple interventions have been developed and there are several ongoing clinical trials.

• Tuberculosis and Respiratory Diseases
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• 제79권1호
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• pp.37-41
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• 2016

Iron supplements such as ferrous sulfate tablets are usually used to treat iron-deficiency anemia in some elderly patients with primary neurologic disorders or decreased gag reflexes due to stroke, senile dementia, or parkinsonism. While the aspiration of ferrous sulfate is rarely reported, it is a potentially life-threatening condition that can lead to airway necrosis and bronchial stenosis. A detailed history and high suspicion of aspiration are required to avoid delays in diagnosis and treatment. The diagnosis can be confirmed by bronchoscopic examination and a tissue biopsy. Early removal of the aspirated tablet prevents acute complications, such as bronchial necrosis, hemoptysis, and lobar consolidation. Tablet removal is also necessary to prevent late bronchial stenosis. We presented the first case in Korea of a ferrous sulfate tablet aspiration that induced severe endobronchial inflammation.

• 생명과학회지
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• 제14권2호
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• pp.280-285
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• 2004

노화과정에 산소라디칼이 관여할 가능성을 난소를 절제한 횐 쥐를 동물모델로 하여 알아보았다. 난소를 절제한 쥐와 난소를 절제하지 않은 정상 쥐에서의 생리활성 및 항산화 효과를 알아보기 위하여 CS를 사용하였다. 난소를 절제한 횐 쥐에 각각 CS를 각 100 mg/kg과 200 mg/kg을 투여하고, 이것과 비교하기 위해 난소를 절제한 대조군과 난소를 절제하지 않은 정상군으로 하여 항산화 효과에 관한 실험방법으로 진행하였다. 노화 유도된 쥐의 각 조직에서 지질 과산화가 증가되었고 유리기 반응이 더 심하게 일어난 간 조직에서 노화 진행이 그만큼 촉진되었음을 알 수 있었다. 산소라디칼 반응이 항진된 원인을 규명코자 간 조직에서 항산화 효소의 활성을 조사한 결과, SOD와 GSH의 활성이 감소되었으며, 노화나 지질과산화가 심하게 진행되었던 간 조직에서 이들 항산화 효소의 활성감소가 심한 경향을 나타내었다. AST의 활성은 OVX 군이 Sham 군에 비해 2.1배 높게 나타났으며, ALT 활성은 크게 변화하지 않았다. 과산화지질한량은 OVX 군이 Sham 군에 비해 1.4배 높게 나타났으며, CS를 투여한 군에서는 31%-38%의 저해율을 보였다. 항산화 효소들은 Sham 군에 비해 OVX 군에서 낮게 나타났으며, 물질 투여 군에서는 정도의 차이는 있지만 대체로 증가하는 경향을 보였다. 이러한 결과에서 보듯이, 난소절제로 생성된 유리기는 물질 투여로 인한 항산화 효소의 증가를 가져오고 이는 결국 유리기로 손상된 막의 지질과산화 정도를 완화시켜 세포를 보호하는 효과를 가져왔다고 할 수 있다. 따라서 CS는 여러 가지 측면에서 난소절제로 인해 유도된 지질과산화 및 활성산소에 의한 공격으로부터 세포를 보호하고 회복시켜주는 효과가 있다고 사료되어진다.

• Journal of Nutrition and Health
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• 제35권9호
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• pp.943-951
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• 2002

This study was designed to investigate the effects of iron supplementation and nutrition education on the iron status and anemia of high school girls. The subjects resided in Ulsan city in Korea and were already diagnosed as having anemia or iron deficiency. Over a period of three months, one iron tablet (80 mg Fe as ferrous sulfate/day) was administered to the iron deficient subjects and two tablets (160 mg Fe as ferrous sulfate/day) were administered to the anemia subjects. The average height and weight of anemia subjects were 161.24 $\pm$ 4.50 cm and 50.87 $\pm$ 5.86 kg, respectively. The average BMI (kg/$m^2$ )was 19.58 $\pm$ 2.03 and the PIBW(percent ideal body weight) were 92.52 $\pm$ 9.84%. Except for vitamin A and vitamin C intakes, the intake levels of all other nutrients were below the RDA. Total calorie intakes of anemia subjects were 73.5% of RDA. The iron intakes of subjects from food were 69. 1% of RDA and the Ca intakes were 59.1% of RDA. The basal hemoglobin(Hb) concentration of anemia subjects averaged 10.77 $\pm$ 1.33 g/dl, and this increased significantly (p < 0.001) to 12.12 $\pm$ 1.08 g/dl, after iron supplementation. The basal ferritin, and transferrin saturations ｛TS (%)｝of anemia subjects were 12.51 $\pm$ 15.19 ng/$m\ell$ and 8.43 $\pm$ 7.56%, respectively, and these significantly increased to 20.59 $\pm$ 22.39 ng/$m\ell$ and 15.56 $\pm$ 12.87%, respectively. The level of total iron binding protein (TIBC) significantly decreased from the initial 486.80 $\pm$ 70.16 $\mu\textrm{g}$/dl to 417.86 $\pm$ 67.73 $\mu\textrm{g}$/dl (p < 0.001) after iron supplementation. For the iron deficiency subjects, the ferritin, iron and TS(%) levels were increased significantly (p < 0.001) and the TIBC levels were significantly (p <0.001) decreased after iron supplementation. Anemia symptoms such as 'Feeling blue (p<0.05)', 'Decreased ability to concentrate (p<0.001)' and 'Poor memory (p<0.05)' improved significantly after iron supplementation in the anemia subjects. The number of tablets administered was positively correlated with changes in serum hemoglobin (t=0.194, p< 0.01), serum ferritin (t=0.181, p<0.01), TS(%) (t=0.141, p<0.05), and hematocrit (t=0.254, p<0.01), and was negatively correlated with changes in TIBC (t=-0.143. p<0.05) and red cell distribution width (RDW, t=-0.140, p<0.05). In conclusion, daily iron supplementation was effective in improving the iron status and reducing symptoms of anemia in high school girls. (Korean J Nutrition 35 (9) : 943~951,2002)