• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.354-357
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• 2015

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the left leg. At 4 years of age, she presented with localized scleroderma over the right parietal region of her scalp; her face gradually became asymmetric as her right cheek atrophied. Brain magnetic resonance imaging revealed hemiatrophy of the face and skull base, and T2-weighted images showed increased signal in the right hemipons and hemicerebellar peduncle. Magnetic resonance angiography findings were unremarkable. She was treated with oral prednisolone, and her recurrent gait ataxia diminished within 2 months of the follow-up period. To the best of our knowledge, this is only the second case of PRS presenting with an abnormal involvement of the ipsilateral hemipons.

• Journal of Korean Biological Nursing Science
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• v.14 no.2
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• pp.129-138
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• 2012

Purpose: Cachexia is a complex metabolic syndrome associated with wasting of skeletal muscle which contributes to nearly one-third of all cancer deaths. Cachexia lowers the frequency of response to chemotherapy and radiation and ultimately can impact survival as well as quality of life during treatment. NF-kappa B is one of the most important molecular mediators of cachexia. In this study, therefore, possible candidates for inhibitors of NF-kappa B were searched. Methods: Amino acids that regulate cellular redox potential by adjusting the level of NAD/NADH ratio, such as aspartate, pyruvate, and isocitrate were selected. Results: Pyruvate effectively inhibited luciferase activity in TNF-stimulated 293T cells transfect with an NF-kB dependent luciferase reporter vector. Pyruvate also showed protective effect on muscle atrophy of differentiated C2C12 myocyte induced by TNF/IFN. Conclusion: We might be able to develop the nutritional management strategy for cancer cachexia patients with pyruvate supplementation.

• Korean Journal of Psychosomatic Medicine
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• v.4 no.1
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• pp.98-108
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• 1996

Korean women are now living almost 1/3 of their life after menopause. Sex-steroid hormone deficiency adversely affect various fields of physical & mental activity and quality of life during this period. Therefore, replacement of deficient hormone is thought to be natural therapeutic modality. Postmenopausal syndrome is recently redefined as an endocrinopathy with both short-and long-term sequelae, as a result of cessation of ovarian function. Hormone replacement therapy taken at or near time of menopause alleviates shot-term acute menopausal symptoms such as vasomotor disturbances and psychological problems. HRT also beneficially affects some of intermediate symptoms such as urogenital atrophy and cutaneous problems. The major benefits of long-term use were reductions in risk of long-term sequelae, that is, total fracture by 50-60%, cardiovascular disease by 50% and cerebrovascular disease by 30-40%, respectively. In addition, HRT may also positively influence Alzheimer's disease, reduce the colorectal cancer risk and increase longevity of the life. In conclusion, all postmenopausal women should consider preventive HRT when there are no contraindications.

• The Journal of Korean Academy of Orthopedic Manual Physical Therapy
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• v.14 no.2
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• pp.16-24
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• 2008

Anatomy: Advanced knowledges of cellular and molecular biology led to the development of therapies of rheumatoid arthritis(RA). Rheumatoid arthritis (RA) is a chronic, recurrent, systemic inflammatory disease and results in major deformity or dysfunction of joints. Etiology: Rheumatoid arthritis is now concevied as autoimmune disease. There have been many trials to define the immunological changes in rheumatoid arthritis. But now pathogenesis and significance of immunoglobulin complement and rheumatoid factor are not full accepted. Syndrome: Joints are characteristically involved with early inflammatory changes in the synovial membrane, peripheral portions of the articular cartilage, and lation tissue(pannus) forms, covers, and erodes the articular cartilage, bone and ligaments within the jiont capsule. Inflammatory changes also occur in tendon sheaths(tenosynovitis), and if subjected to a lot of friction, the tendons may fray or rupture. Extra-articular pathological changes sometimes occur, these include rheumatoid nodules, atrophy and fibrosis of muscles, and mild cardiac changes. Treatment: Tumor necrosis factor(TNF) inhibitor for the treatment of rheumatoid arthritis(RA) induces not only significant improvement of symptoms and signs of RA but also substantial inhibition of progressive joint damage.

• The Korean Journal of Nuclear Medicine
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• v.30 no.1
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• pp.56-64
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• 1996

The purpose of this study was to evaluate the characteristic perfusion changes in patients with Sturge-Weber syndrome by comparison of the findings of brain MR images and perfusion SPECT images. $^{99m}Tc$-HMPAO or $^{99m}Tc$-ECD interictal brain SPECTs were performed on 5 pediatric patients with Sturge-Weber syndrome within 2 weeks after MR imaging. Brain SPECTs of three patients without calcification showed diminished perfusion in the affected area on MR image. A 3 month-old patient without brain atrophy or calcification demonstrated paradoxical hyperperfusion in the affected hemisphere, and follow-up perfusion SPECT revealed decreased perfusion in the same area. The other patient with advanced calcified lesion and atrophy on MR image showed diffusely decreased perfusion in the affected hemisphere, but a focal area of increased perfusion was also noted in the ipsilateral temporal lobe on SPECT. In conclusion, brain perfusion of the affected area of Sturge-Weber syndrome patients was usually diminished, but early or advanced patients may show paradoxical diffuse or focal hyperperfusion in the affected hemisphere. Further studies are needed for better understanding of these perfusion changes and pathophysiology of Sturge-Weber syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.102-108
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• 2016

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is one of mitochondrial encephalopathy. As the early clinical manifestations can be variable, it is important to suspect the disease, especially in patients with multiple organ dysfunctions. A boy was diagnosed with epilepsy when he was 9 years old. Two years later, severe headache and blurred vision developed suddenly. On examination, left homonymous hemianopsia was detected with corresponding cerebral parenchymal lesions in right temporo-occipito-parietal areas. MELAS syndrome was confirmed by genetic test, which showed m.3243 A>G mitochondrial DNA mutation. Multivitamins including coenzyme Q10 were added to anticonvulsant. He experienced 4 more events of stroke-like episodes over 5 years, but he is able to perform normal daily activities. A 13-year-old boy was brought to the hospital due to suddenly developed respiratory arrest and asystole associated with pneumonia. Past medical history revealed that he had multiple medical problems such as epilepsy, failure-to-thrive, optic atrophy, and deafness. He has been on valproic acid as an anticonvulsant which was prescribed from local clinic. He recovered after the resuscitation, but his cognition and motor function were severely damaged. He became bed-ridden. He was diagnosed with MELAS syndrome by brain MRI, muscle biopsy, and clinical features. Genetic test did not reveal any mitochondrial gene mutation. Four years later, he expired due to suddenly developed severe metabolic acidosis combined with hyperglycemic hyperosmolar nonketotic coma. The clinical features of MELAS syndrome are variable. Early diagnosis before the presentation to the grave clinical course may be important for the better clinical outcome.

• Culinary science and hospitality research
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• v.23 no.6
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• pp.173-183
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• 2017

Conditions related to body composition and aging, such as osteopenic obesity, sarcopenia/ sarcopenic obesity, and the newly termed osteosarcopenic obesity(triad of bone, muscle and adipose tissue impairment), are beginning to gain recognition. Currently, it has begun to attract the attention of scholars from all over the world, however, for this disease, it still needs a more clear understanding and perception. Therefore, this article considered the osteoporosis, muscle depression, and obesity, these diseases as a gate to study the relationship among muscle, bone, and fat. In addition, in the aging process, the formation of IGF-cortisol, testosterone, and estrogen is sensitive. These hormones can not only absorb muscle protein metabolism, but also affect alienation. The decrease in IGF-cortisol in the elderly resulted in increased visceral fat, decreased muscle mass and bone mineral density, and then affected decreased skeletal muscle atrophy and decreased quality. The reduction of skeletal muscle quality and strength and increase body fat affected the adipose tissue to produce inflammatory cytokines, thereby reduced skeletal muscle, promoted cardiovascular disease, metabolic syndrome and insulin resistance in chronic diseases. Almost all chronic inflammatory diseases were associated with bone, muscle and fat. These mechanisms were complex and interrelated. Inflammation reduces bone formation, increases fat and reduces muscle mass. And thus not only had a significant impact on the motor system, but also made the incidence increase of fracture, osteoporosis, fragile syndrome, fall, osteomalacia and other bone disease. This article aimed to start from the interaction between the muscles and bones of the elderly, extended to obesity, muscle deficiency, osteoporosis and other diseases, finally, from a nutritional point of view, to discuss how to treat osteoporosis obesity.

• The Korean Journal of Nuclear Medicine
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• v.25 no.1
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• pp.81-86
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• 1991

Reflex sympathetic dystrophy syndrome (RSDS), known also as Sudeck's atrophy, is an uncommon disorder recognized by its distinctive symptom complex consisting of pain and tenderness, vasomotor instability, swelling, and dystrophic skin changes and radiologic changes. The present study has been carried out to prospectively establish scintigraphic diagnostic criteria for RSDS using three-phase radionuclide bone scintigraphy (TPBS). In addition, the usefulness in the evaluation of treatment of RSDS was assessed. Patients included were 6 men and 7 women with the age ranging from 25 to 63 years (average 47 years). Diagnosis was based on typical clinical symptoms and signs as described above. Associated clinical conditions in these patients were cerebral infarction (4 patients), lung cancer (2 patients), trauma (1 patient), lymphoma (1 patient), and unknown cause (5 patients). All patients showed diffuse radionuclide accumulation in juxtaarticular region on the delayed static image and 11 patients showed diffusely increased activities also on scintiangiogram and blood-pool image. Fillow-up TPBS after corticosteroid therapy in 4 patients revealed near normal return of abnormal radionuclide accumulations in the affected hand. TPBS is an useful test for the diagnosis of as well as the evaluation of the therapeutic effects of RSDS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.88-98
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• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• Korean Journal of Radiology
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• v.1 no.1
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• pp.5-10
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• 2000

Objective: To describe the neuroradiologic findings of primary antiphospholipid antibody syndrome (PAPS). Materials and Methods: During a recent two-year period, abnormally elevated antiphospholipid antibodies were detected in a total of 751 patients. In any cases in which risk factors for stroke were detected - hypertension, diabetes mellitus, hyperlipidemia, smoking, and the presence of SLE or other connective tissue diseases - PAPS was not diagnosed. Neuroradiologic studies were performed in 11 of 32 patients with PAPS. We retrospectively reviewed brain CT (n = 7), MR (n = 8), and cerebral angiography (n = 8) in 11 patients with special attention to the presence of brain parenchymal lesions and cerebral arterial or venous abnormalities. Results: CT or MR findings of PAPS included nonspecific multiple hyper-intensity foci in deep white matter on T2-weighted images (5/11), a large infarct in the territory of the middle cerebral artery (4/11), diffuse cortical atrophy (2/11), focal hemorrhage (2/11), and dural sinus thrombosis (1/11). Angiographic findings were normal (5/8) or reflected either occlusion of a large cerebral artery (2/8) or dural sinus thrombosis (1/8). Conclusion: Neuroradiologic findings of PAPS are nonspecific but in young or middle- aged adults who show the above mentioned CT or MR findings, and in whom risk factors for stroke are not present, the condition should be suspected.