• Clinical and Experimental Pediatrics
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• 제55권11호
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• pp.430-437
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• 2012

Purpose: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

• 대한한의학원전학회지
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• 제20권2호
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• pp.137-145
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• 2007

Pulse diagnosis that distinguishes internal injury from external injury by comparing the left and right of the chon pulse was formed in the process of Naegyoung's pulsation theory of ST9 and LU9 being assimilated into diagnostic method by taking chon pulse. The founder of school of internal injury, I Dong-won, expanded the horizon for this method to be widely used in clinical practice by especially explaining the specific application and theoretical background. According to him, pulse at ST9 which means chon pulse at the left hand, is bigger than the chon pulse at the right hand, it reflects external injury. Bigger "entrance pulse", a chon pulse at the right hand means internal injury. The reason is the left side of the body is a path for Yanggi so it controls the exterior part and the right side of the body is a path for Eumgi to descend so it controls the interior part. Internal injury develops as the spleen and stomach get injured. If the spleen and stomach is damaged essence derived from food cannot ascend to the stomach and will flow back to the lower part. As a result, fire of Eum type formed at the lower part will shoot up to the upper part and manifests external injury-like exterior syndromes. In this case, evidence distinguishing between internal and external injury is the fact that right hand pulse is bigger than the left hand. The important reason for distinguishing between internal and external injury is because when treating external injury caused by excess syndrome, pathogenic Gi should be dispelled. However, treating internal injury cased by deficiency syndrome, requires promoting the primordial Gi.

• Journal of Nutrition and Health
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• 제42권3호
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• pp.234-245
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• 2009

Nutritional assessment for the elderly can identify health status and morbidity. However, development of Nutritional Risk Index (NRI) remains limited for elderly because of difficulties in understanding physiological mechanism of elderly. This study was performed to analyze and develop Nutritional Risk Index for Korean elderly Women (Geriatric Nutritional Risk Index, GNRI). Based on literature review, factors for NRI were identified and indices were assessed by a cross-sectional survey. The survey involved Korean elderly women (${\geq}$60, n = 94) in Gwangju area, and sociodemographics, lifestyle characteristics, health conditions, dietary intakes based on 24h- recall, anthropometric measures (wt, ht, BMI, waist, hip, WHR, body protein, body fat, abdominal fat, and triceps skinfold thickness), and clinical biochemistry parameters (systolic blood pressure, diastolic blood pressure, cholesterol, HDL-cholesterol, triglyceride, total protein, albumin, prealbumin, hemoglobin, hematocrit, fasting blood glucose, HbAlc, ferritin, Zn, Ca, Na, K, Vit E, Vit $B_{12}$, folate, C-reactive protein) were examined relation to nutritional risk index. Based on literature review and data analyses, three NRIs were categorized (NRI I, NRI II, NRI III) and used for further analysis. NRI I was related to having metabolic syndrome, NRI II was related to serum albumin and body weight, and NRI III was related to food habit and health concerns. Abdominal fat (%) of elderly was correlated with each NRIs. NRI II was correlated with nutritional deficiency and higher tendency of inflammatory response, and NRI III was correlated with nutritional status which tend to be lower on aging (protein, folate, Vit $B_{12}$). NRI can serve as a useful tools in assessing health risk and nutritional status. Some modification of items in NRI and validity study are need to apply to Korean elderly.

• 한국수산과학회지
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• 제46권5호
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• pp.575-581
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• 2013

We examined the effect of starvation on the occurrence of tunic softness to determine the cause of mass mortality of cultured Halocynthia roretzi (Drasche) in the Tongyeong region, Korea. In terms of the survival rate of H. roretzi and the occurrence rate of tunic softness, H. roretzi starved for 35 days at water temperatures of 8, 12, and $15^{\circ}C{\pm}0.5^{\circ}C$ (room temperature of $15^{\circ}C{\pm}1^{\circ}C$) did not exhibit tunic softness at water temperatures of either $8^{\circ}C$ or $12^{\circ}C$. for morphological changes, although the tunic of H. roretzi was shrunken and became visibly smaller with a darkening color in all experimental groups, as compared to the state prior to starvation, its tunics bulbs continuously. The ratio of RNA/DNA concentrations and protein contents for each of the tunic sections were lower in the starved group. Our results indicate that tunic softness is not related to feeding deficiency, as no histopathological symptoms were apparent in the digestive gland or tunic of H. roretzi due to starvation.

• 척추신경추나의학회지
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• 제4권2호
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• pp.211-223
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• 2009

Objectives : The aim of this research is to analyze the current trend of the studies about eridian muscle and to provide background for further studies. Methods : Reviewing 33 domestic oriental medical studies about meridian muscle, and comparative analysis was made. These studies were classified by method, theme and subtitle. Results : 1. According to the classification by study method, number of literary studies are 22(67%), which is more than half, number of experimental studies are 5(15%) and clinical studies are 6(18%). 2. According to the classification by study theme in literary study, percentage of 'Structure amp; Movement of Meridian Muscle' took 64%, Theory study of Meridian Muscle' took 14%, 'Application of Concept of Meridian Muscle' took 14%, 'Treatment of Meridian Muscle disorder' took 9% arranged in order. 3. In 'Theory study of Meridian Muscle', there were not only literary approaches but also Deficiency-Excessiveness(虛實) and historical approaches. Study about 'Structure & Movement of Meridian Muscle' includes analysis of muscle and Myofascial pain syndrome. On this background, it is necessary to recognize the linkage and motion analysis of Meridian Muscle. Therefore, studies were changed into interpretation about Anatomy trains, analysis of motion. The study about 'Treatment of Meridian Muscle disorder' provided the various treatment method-Acupuncture, Manual therapy, Ashi(阿是)-point therapy, CHUNA therapy etc.- in literary study. The study about the 'Application of Concept of Meridian Muscle' has been performed in relation to Embedding Therapy, Kyungkuen chuna, Ki-gong therapy. 4. Experimental Studies were all Anatomical Studies. Studies were done in trial of discovering the actual existence, but revealed problem in interpretating the meaning of Meridian Muscle. 5. Clinical Studies based on Ashi(阿是)-point therapy CHUNA Muscles Along Meridians Release Therapy etc, were performed. Experimental studies about Meridian Muscle were assessed as low grade according to Jadad Scale. There were no studies which were based on well-organized Meridian Muscle theory. Conclusions : There needs to be more discussion about concept of Meridian Muscle and proceed more reliable experimental studies with organized Meridian Muscle theory. Further objective studies about treatment of Meridian Muscle should be done.

• 대한유전성대사질환학회지
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• 제11권1호
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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.

• Molecular & Cellular Toxicology
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• 제4권4호
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• pp.338-347
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• 2008

Yeast RAD2, a yeast homolog of human XPG gene, is an essential element of nucleotide excision repair (NER), and its deletion confers UV sensitivity and NER deficiency. 6-Azauracil (6AU) sensitivity of certain rad2 mutants revealed that RAD2 has transcription elongation function. However, the fundamental mechanism by which the rad2 mutations confer 6AU sensitivity was not clearly elucidated yet. Using an insertional mutagenesis, PUF4 gene encoding a yeast pumilio protein was identified as a deletion suppressor of rad2${\Delta}$ 6AU sensitivity. Microarray analysis followed by confirmatory RT-qPCR disclosed that RAD2 and PUF4 regulated expression of HPT1 and URA3. Overexpression of HPT1 and URA3 rescued the 6AU sensitivity of rad2${\Delta}$ and puf4${\Delta}$ mutants. These results indicate that 6AU sensitivity of rad2 mutants is in part ascribed to impaired expression regulation of genes in the nucleotide metabolism. Based on the results, the possible connection between impaired transcription elongation function of RAD2/XPG and Cockayne syndrome via PUF4 is discussed.

• Journal of Acupuncture Research
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• 제24권2호
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• pp.169-185
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• 2007

Objectives : The studies on variation in diagnosis on the neck and nuchal pain has not been done thoroughly as we can use it in clinical practice of these days. For this reason, I examined the variation in diagnosis mentioned in the classics of Oriental Medicine as the preceding study on standardization of variation in diagnosis on neck and nuchal pain. Methods : I gathered the twenty kinds of classics of Oriental Medicine that were computerized, the textbooks on Oriental Medicine which are being used these days, and the theses on current clinical research. After gathering these data, I analyzed these according to the variation in diagnosis. Results : The classics of Oriental Medicine on the neck and nuchal pain mentioned very much about the neck and nuchal pain occurred by the pathogenic factor of Wind, Cold, and Dampness, disharmony created by deficiency of Liver and Kidney, and pathogenic state of Meridians of Taiyang. According to the texts of these days, the differentiation of syndromes can be divided into four kinds of items such as Wind-Cold pathogen, Wind-Dampness pathogen, Phelgm-Heat, and disharmony between Qi and Blood. The theses of these days rarely mentioned about variation in diagnosis on the neck and nuchal pain. Conclusions : The differentiation of syndromes on the neck and nuchal pain can be divided into four kinds items as affection by exopathogen like Wind, Cold, Dampness, Heat, and so on, stagnation of Qi and the coagulation blood, deficient syndrome of Liver and Kidney, and deficient syndrome of Qi and Blood.

• 사상체질의학회지
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• 제29권4호
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• pp.336-346
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• 2017

Objectives The purpose of this study is to investigate the characteristics of low back pain and shoulder arm pain patients according to the Sasang Constitution. Method We classified Seventy-nine participants by their Sasang Constitution. We investigated various aspects of the participant's pain such as the location of pain, diseases and Syndrome Differentiation etc. then intended to confirm relationship the Sasang Constitution and these research items through the statistics analysis. Results The numbers of lower back pain patients was statistically higher in Soyangin group than any other groups and the number of shoulder arm pain patients was statistically higher in Taeeumin group or Eumin group (Taeeumin group and Soeumin group) than Soyangin group. The number of diabetes patients and obesity patients was statistically higher in Taeeumin lower back pain patients, and that of obesity patients was statistically higher in Taeeumin shoulder arm pain patients than any other groups. The numbers of shoulder arm pain patients due to blood stasis and lower back pain patients due to kidney deficiency were statistically higher in Soyangin group than any other groups. The numbers of shoulder arm pain patients due to phlegm fluid retention and lower back pain patients due to phlegm fluid retention were statistically higher in Taeeumin group than any other groups. Conculsions The characteristics of lower back pain and shoulder arm pain could be different according to Sasang constitution.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.17-21
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• 2021

Hunter syndrome or mucopolysaccharidosis type II (MPS-II) (OMIM 309900) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulfatase. This enzyme is responsible for the catabolism of the following two different glycosaminoglycans (GAGs): dermatan sulfate and heparan sulfate. The lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. Patients can be broadly classified as having one of the following two forms of MPS II: a severe form and an attenuated form. In the severe form of the disease, signs and symptoms (including neurological impairment) develop in early childhood, whereas in the attenuated form, signs and symptoms develop in adolescence or early adulthood, and patients do not experience significant cognitive impairment. The involvement of the skeletal-muscle system is because of essential accumulated GAGs in joints and connective tissue. MPS II has many clinical features and includes two recognized clinical entities (mild and severe) that represent two ends of a wide spectrum of clinical severities. However, enzyme replacement therapy is likely to have only a limited impact on bone and joint disease based on the results of MPS II studies. The aim of this study was to review the involvement of joints in MPS II.