• Maxillofacial Plastic and Reconstructive Surgery
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• v.12 no.3
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• pp.68-73
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• 1990

Fibrous dysplasia is an idiopathic skeletal disorder in which medullary bone is replaced and disturbed by poorly organized, structually unsound fibroosseous tissue, which may produce cortical expansion. When facial bones are involed, considerable esthetic deformity may result. The term monostotic fibrous dysplasia has been applied when one bone is involved : when more than one bone is affected, the term polyostotic used. The polyostotic form may be accomplished by pigmented skin lesion (Jaffe type), or by pigmented skin lesions with endocrine disturbance (Albright syndrome). No general agreement exists on the cause of fibrous dysplasia. A few authors have suggested that fibrous dysplasia arises as a resujlt of trauma. It occurs predominantly in infant, adolescent females and runs a variable clinical course. When several bones are involed, it tends to be unilateral. Involements of alveolar bone may produce displacement of teeth with malocclusion, or loss of teeth, or both. Radiographycally, it shows an indistinctly delimited osteolytic defect with a bubble - like pattern, but without a sclerotic rim. The preferred treatment is almost always surgery. If the lesion is extensive, surgical intervention with use of recontouring procedures aimed at the correction of esthetic or funtional disturbances is preferred treatment. Now, we present a case of fibrous dysplasia on the left maxilla and the zygoma treated by bony contourign via hemicoronal flap and intraoral approach with good results.

• Physical Therapy Korea
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• v.13 no.2
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• pp.9-15
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• 2006

Skeletal muscle injury occurs frequently in sports medicine and is the most general form of injury followed by physical impact. There are growth factors which conduct proliferation, differentiation, and synthesis of myogenic prodromal cells and regulate vascular generation for the continued survival of myocytes. The purpose of the present study was to confirm the effects of electroacupuncture (EA) and electrical stimulation (ES) on muscle recovery processes according to vascular endothelial growth factor (VEGF) expression. Eighteen Sprague-Dawley rats were separated into 2 experimental groups and a controlled group. All animals had suffered from crush damage in the extensor digitorum longus for 30 seconds and were killed 1, 3, and 7 days after injury. 30 Hz and 1 mA impulsion for 15 minutes was applied to the EA experimental groups Zusanli (ST36) and Taichong (LR3) using electroacupuncture and the same stimulation was applied to the ES group using an electrical node. Hematoxyline-Eosin staining and VEGF immunohistochemistry were used to ascertain the resulting muscle recovery. There were few morphological differences between the EA and ES groups, and both groups were observed to have tendencies to decrease atrophy as time passed. In the controlled group, gradually diminishing atrophy could be observed, but their forms were mostly disheveled. There were few differences in VEGF expression between the EA and ES groups, and tendencies to have an increased quantity of VEGF with the lapse of time were observed in both groups. In the controlled group, a little VEGF expression could be observed merely 7 days after injury. In conclusion, EA and ES contributed to muscle recovery processes and could be used for the treatment of muscle injury.

• Archives of Plastic Surgery
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• v.37 no.3
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• pp.281-284
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• 2010

Purpose: Pseudohypoparathyroidism is a hereditary disorder characterized by symptoms and signs of hypoparathyroidism, typically in association with distinctive skeletal and developmental defects. Hypoparathyroidism is caused by a insufficient end-organ response to PTH (parathyroid hormone). Hypoparathyroidism consists of four types in which the most common form, pseudohypoparathyroidism-Ia, accompany with Albright's hereditary osteodystrophy. We experienced a case of a woman who had been suffering from calcified mass on left foot, diagnosed Albright's hereditary osteodystrophy. Methods: We present a case of a 24-year-old Korean female who visited plastic surgery department with a painful mass on dorsum of the left foot. On the physical exam, bony hard and painful mass, fixed to dermis, was noted. Plain X-ray films demonstrate suspicious calcification on subcutaneous tissue of dorsum of the left foot. The patient was diagnosed pseudohypoparathyroidism 2 years ago at the plastic surgery department. At the visiting time, the laboratory results were within normal range even though the patient actually had a disease. The reason is because the patient has been treated with Vit.D, calcium replacement therapy and thyroid hormone therapy. Moreover, the patient has been treated with anticonvulsant agents due to epilepsy. On the brain computer tomography (CT), calcification was noted on the basal ganglia and dentate nucleus. So we decided the total excision of entire mass from the left foot. Results: We excised main mass with numerous pinhead sized masses which were scattered around the main mass. The $6.0{\times}4.0{\times}0.5\;cm$ sized main mass was bony hard, and its surface was flat and margin was irregular. The permanent biopsy was confirmed that the main mass and all the scattered tiny masses were heterotopic calcification. The patient did not suffer from the pain after the mass excision. The wound has been healed without any problem. Conclusions: Heterotrophic calcification is often accompanied with pseudohypoparathyroidism, but such a huge one is uncommon. We report a case of pseudohypoparathyroidism with heterotrophic calcification developed in dorsum of left foot who was diagnosed by excisional biopsy.

• Pediatric Infection and Vaccine
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• v.23 no.1
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• pp.72-76
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• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• The Korean Journal of Zoology
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• v.31 no.4
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• pp.295-299
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• 1988

An endogenous 17-6a inhibitor of Caa+_activated protease has been purified from neo-plastic tissues of human stomach using heat treahent and conventional chromatographir procedures. It appears to consist of a single polvpeptide since the same molecular weight was obtained by both gel fntration under nondenaturing condition and gel electrophoresis in the presence of SDS. Since the size of the inhibitor or is the smallest amens those reported so far, it may represent a functional unit for inhibiting Caa+_activated protease. This protein is also capable of inhibiting the protease isolated loom chick skeletal muscle. Thus, the functional unit of the inhibitor most well be conserved during evolution. Howrver, it remains unclear what may be the physiological significance of the presence of the Iow-molecular weight form of the inhibitor in neoplastic tissues of human stomach. 사람의 위암조직으로부터 Ca2)_activated protease을 저해하는 단백질을 열처리 및 여러 크로마토그라피 방법을 이용하여 순수분리 하였다. 이 저해단백질은SDS-전기영동카자1 filtra-tion의 방법에 의하여 그 분자량이 17 kDa으로 나타남으로 보아 단일 Polypeptide로 구성되어 있음을 알 수 있었다. 이 저해 단백질의 분자량은 지금까지 알려진 CaB+_activated protease의 저해단백질에 비하여 가장 작은 것이었다. 따라서, 이 단.백질은 Ca2)에 의하여 활성화되는 단백질 분해효소의 작용을 저해하는 기능적 단위로 추측되었다. 한편, 이 저해제는 계 골격근에서 추출한 Ca2+ _activated protease의 촹성 도 억제 하는 것으로 나타났다. 이러 한 결과는 이 저 해 단백질의 기능적 단위가 진화과정 동안 오래 보존되어 왔음을 시사한다. 그러나, 사람의 위암조직에서 이 저해제가 무슨 이유로 가장 작은 분자량의 단백질로 존재하는지에 대한 생리학적 중요성에 관한 문제는 앞으로 많이 연구되어져 야 할 것이다.

• Clinical and Experimental Reproductive Medicine
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• v.30 no.2
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• pp.179-184
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• 2003

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome refers to a condition which presents as normal female secondary sex characteristics, normal external genitalia, congenital absence of the internal vagina, usually a rudimentary uterus in the form of bilateral noncanaliculated muscular buds, and normal tubes and ovaries with normal cytogenetic and endocrine evaluation, frequent association of renal, skeletal and other congenital anomalies. However, rarely, whole uterus or a segment of uterus may be present, but lacking a conduit to the introitus. If a partial endometial cavity is present in a segment of uterus, cyclic abdominal pain may be a complaint and furthermore endometiosis can be developed. Recently, we experienced a case of MRKH syndrome with the segments of uterus accompanying endometriosis in young woman. We present this case with a brief review of literatures.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Journal of the Korean Applied Science and Technology
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• v.36 no.4
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• pp.1164-1171
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• 2019

Dietary supplements derived from natural sources are an essential factor in optimizing athletic performance. It has been proposed that the extract of Momordica charantia (M. charantia) that is known as a bitter melon can be potentially used as a novel supplement for health promotion. This pilot study aimed to examine the effects of the M. charantia extract when administered in the form of a sports drink, and we evaluated changes in body composition and metabolic factors in tennis players after 4-week consumption of the extract. Eight male college tennis players were instructed to consume an M. charantia extract 6 times per day (3 in the morning and 3 in the afternoon, and the total daily intake was 600 ml). Collected data were analyzed using paired t-tests to examine the changes over time after consumption of the M. charantia extract. The results revealed a significant increase in the trunk muscle mass, basal metabolic rate, and daily calorie intake (p < 0.05). Levels of protein, minerals, and total body water showed an increased tendency (not statistically significant), whereas intracellular water and extracellular water showed a decreased trend. Furthermore, fat-free mass, skeletal muscle mass, and muscle mass showed an increased tendency. In conclusion, consumption of the M. charantia extract caused an increase in parameters related to protein, muscle mass, and metabolism. It seems that follow-up studies related to fatigue, inflammation, and stress hormones related to the M. charantia extract consumption would be needed.

• The Korean Journal of Physiology and Pharmacology
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• v.9 no.1
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• pp.1-8
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• 2005

Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2) expansions. In DM1, CTG repeats are located within the 3' untranslated region of myotonin protein kinase (DMPK) gene on chromosome 19q. DM2 is caused by expansion of CCTG repeats located in the first intron of a gene coding for zinc finger factor 9 on chromosome 3q. The CTG and CCTG expansions are located in untranslated regions and are expressed as pre-mRNAs in nuclei (DM1 and DM2) and as mRNA in cytoplasm (DM1). Investigations of molecular alterations in DM1 discovered a new molecular mechanism responsible for this disease. Expansion of un-translated CUG repeats in the mutant DMPK mRNA disrupts biological functions of two CUG-binding proteins, CUGBP and MNBL. These proteins regulate translation and splicing of mRNAs coding for proteins which play a key role in skeletal muscle function. Expansion of CUG repeats alters these two stages of RNA metabolism in DM1 by titrating CUGBP1 and MNBL into mutant DMPK mRNA-protein complexes. Mouse models, in which levels of CUGBP1 and MNBL were modulated to mimic DM1, showed several symptoms of DM1 disease including muscular dystrophy, cataracts and myotonia. Mis-regulated levels of CUGBP1 in newborn mice cause a delay of muscle development mimicking muscle symptoms of congenital form of DM1 disease. Since expansion of CCTG repeats in DM2 is also located in untranslated region, it is predicted that DM2 mechanisms might be similar to those observed in DM1. However, differences in clinical phenotypes of DM1 and DM2 suggest some specific features in molecular pathways in both diseases. Recent publications suggest that number of pathways affected by RNA CUG and CCUG repeats could be larger than initially thought. Detailed studies of these pathways will help in developing therapy for patients affected with DM1 and DM2.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.29 no.2
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• pp.208-229
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• 1996

Comprative osteology of the chum salmon Oncorhynchus keta, masu salmon O. masou and rainbow trout O. mykiss in Korea was studied. As a result, it was found that there were some differences in the structural features of the cranium and visceral skeleton among the species. Interspecific differencies in glossohyal, supraethmoid, parasphenoid and vomer were distinctive for the species. Chum salmon could be distinguished easily by some characters on form of glossohyal which is thin, long and sharp in shape. It has triangle shape supraethmoid while other two species have oval shape one. The shape of parasphenoid, preopercle, hyomandibular and the number of epurals were evaluated as new taxonomic criteria for the salmons.