• Journal of the Korean Society of Physical Medicine
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• v.7 no.3
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• pp.293-302
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• 2012

Background & Purpose : The purpose of this study is to evaluate the impairment of SVMC(selective voluntary motor control) of the lower extremity by assessing each joints of lower limb and to analyze the motional relationship between each joints of lower limb using SCALE(Selective Control Assessment of the Lower Extremity) during the swing phase of gait cycle in children with spastic diplegia. Method : 11 children with spastic diplegia CP who could walk independently and 10 normal developing children were participated. SCALE(Selective Control Assessment of the Lower Extremity) assessments were conducted for 11 children with CP. Gait analysis were accomplished in all participants. Qualisys motion analysis was used as a statistical tool to assess the motional relationship between hip joint, knee joint and ankle joint in each limb. We used descriptive statistics, cross-tabulation, independent t-test, linear regression to analysis motional relationship between each joints of lower limb using by SPSS ver.17.0. Result : Firstly, there were significant differences in SCALE scores between the cerebal palsy group and the control group in knee joint(p<0.05), but no significant difference in hip and ankle joints during the swing phase of gait cycle. Secondly, the difference of SCALE scores showed no statistical motional difference in knee and ankle joints during the swing phase, and showed significant motional difference in hip joints during the swing phase(p<0.05). Thirdly, there was a liner relationship between the motion of hip and ankle joints during the swing phase. Conclusion : The nature of SVMC(selective voluntary motor control) in each joints of the lower limb may reflect the ability of gait, thus SCALE may be used for assessing and for treating the cerebal palsy patients who are able to walk independently. Also we knew that the impairment of SVMC(selective voluntary motor control) increases from the proximal to the distal joints.

• Asia-pacific Journal of Multimedia Services Convergent with Art, Humanities, and Sociology
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• v.9 no.5
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• pp.427-436
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• 2019

This study investigated the effect of extracorporeal shock wave therapy on the knee angle, MAS, and TUG of the affected side in patients with hemiplegic strokes. This study selected 20 patients who received rehabilitation treatment at a hospital after having been diagnosed with stroke. The control group (n=10) received the general physiotherapy (proprioceptive neuromuscular facilitation), and the experimental group (n=10) applied the extracorporeal shock wave therapy (ESWT) to the injured limb after PNF treatment. This study used an integrated kinematics analyzer (4D-MT, Relive, Korea) to analyze walking, timed up and go test to evaluate the dynamic balance ability of patients, and MAS to evaluate the spasticity. In the study results, knee angle were significantly different in all groups(p<0.05) but there was no significant difference between the groups(p>0.05). In the study results, TUG were significantly different in all groups(p<0.05) but there was no significant difference between the groups(p>0.05). Based on the results of this study, I hope that more detailed research will proceed.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.2
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• pp.181-190
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• 2001

Purpose: The aim of this study is to investigate the usefulness of intestinal ultrasonography (US) and upper gastrointestinal endoscopy in the early diagnosis of Henoch-Sch$\"{o}$nlein purpura (HSP) with the gastrointestinal (GI) symptoms preceding the emergence of the skin lesion. Methods: The clinical, intestinal US and upper gastrointestinal endoscopic records of 85 patients (88 cases) with GI symptoms relating to HSP presenting between January 1999 and April 2001 were reviewed. Results: 1) GI symptoms were observed in 52 cases (59%) and skin, joint, renal and scrotal manifestations were observed in 88 (100%), 64 (73%), 15 (17%), 3 cases (3%) respectively. 2) Out of 52 cases with GI symptoms, abdominal pain was observed in all cases (100%). Positive stool occult blood, nausea and vomiting, abdominal tenderness, melena or tarry stool, diarrhea, hematemesis, rebound tenderness and rigidity were observed in 28 (50%), 17 (33%), 17 (33%), 12 (23%), 6 (12%), 4 (8%), 1 (2%) and 1 case (2%) respectively in order of frequency. 3) Intestinal US examination was performed in 27 cases with HSP and GI symptoms (52 cases). Out of 27 sonographic examinations 22 showed abnormal findings. Thickening of the duodeno-jejunal wall was observed in 16 cases (73%). Free peritoneal fluid, enlarged mesenteric lymph node, ileus and abnormal gall bladder were seen in 8 (36%), 8 (36%), 4 (18%) and 1 case (5%) respectively. In three cases of HSP without GI symptoms, those changes were absent. 4) In all of five cases with HSP and GI symptoms, endoscopic study showed mucosal edema and multiple hemorrhagic erosions especially at the second portion of the duodenum. Biopsy specimens from the duodenum of 2 cases out of 5 endoscopic examinations showed acute inflammatory infiltrates in the mucosa with hemorrhage. 5) Both intestinal US and endoscopic studies were performed in 4 cases with HSP and GI symptoms simultaneously. Out of 4 those cases, 3 cases showed the thickened duodeno-jejunal wall on the intestinal US, which suggested erosive hemorrhagic duodenitis by endoscopic findings. Conclusion: The typical but nonpathognomonic intestinal US findings including the thickening of the duodeno-jejunal wall and upper gastrointestinal endoscopic findings including hemorrhagicerosive duodenitis, in children with GI symptoms, should be considered a manifestation of HSP, even in the absence of skin lesion.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.