• Title/Summary/Keyword: dystrophy

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Usefulness of Three-phasic Bone Scan in Young Male Patients Suspected of Post-traumatic Reflex Sympathetic Dystrophy Syndrome (외상후 교감신경 이영양증이 의심되는 젊은 남자 환자들에서 삼상 골스캔의 유용성)

  • Lee, Won-Woo;Kim, Tae-Uk;Kim, Tae-Hoon;Jung, Cheoul-Yun;Moon, Jin-Ho
    • The Korean Journal of Nuclear Medicine
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    • v.35 no.1
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    • pp.52-60
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    • 2001
  • Purpose: In young male patients who suffered several kinds of trauma with subsequent suspicious reflex sympathetic dystrophy syndrome, we performed three-phasic bone scan in order to investigate its usefulness. Materials and Methods: Patients with narrow range of age (21-25. mean $22.8{\pm}1.3$, all male) were included with suspicious reflex sympathetic dystrophy syndrome of 12 feet and 5 hands. Only one was bilateral feet case and 16 were ipsilateral (Rt:13, Lt:3). The etiologic traumas were 4 fractures, 4 sprains, 3 blunt trauma, 2 cellulitis, 1 tendon tear, 1 crush injury, 1 overexercise, and 1 unknown. Radiologically 3 showed osteoporotic changes. Three-phasic bone scans were performed $21.2{\pm}7.3wks$ after trauma. Results: According to symptom complex, confirmatory reflex sympathetic dystrophy syndrome 4 cases and suspicious 13 were analyzed. All confirmatory cases (100%) showed increased uptake at delay phase with periarticular accentuation. Of confirmatory 4 cases, 2 showed increased uptake in all three phases (perfusion: P, blood pool: B, and delay: D), and other 2 revealed decreased P but, both increased B and D. Of suspicious 13 cases, 9(69.2%) had increased D (4 periarticular and 5 focal), 2 decreased D, and 2 symmetric D. In 12 foot cases, so-called weight hearing patterns - increased contralateral sole at P and B - were revealed in 7(58.3%). Conclusion: Diffuse periarticular increased uptake at delay phase of three-phasic bone scan was a compatible finding to reflex sympathetic dystrophy syndrome in young male patients whose symptom complex strongly designated post traumatic reflex sympathetic dystrophy syndrome.

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Abnormality on Liver Function Test

  • Kang, Ki-Soo
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.16 no.4
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    • pp.225-232
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    • 2013
  • Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.

A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation (COL6A1 돌연변이에 의해 발생한 산발성 Ullrich 병 1례)

  • Park, Young-Eun;Kim, Tae-Hyoung;Kim, Hyang-Suk;Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
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    • v.12 no.1
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    • pp.27-31
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    • 2010
  • Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

A Patient with Multiple Unfavorable Reconstruction Options: What Is the Best Choice?

  • Park, Hyun June;Son, Kyung Min;Choi, Woo Young;Cheon, Ji Seon
    • Archives of Reconstructive Microsurgery
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    • v.25 no.2
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    • pp.75-78
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    • 2016
  • The method of lower limb reconstruction surgery is selected based on a patient's underlying conditions, general conditions, and wound status, and it usually varies from direct closure to skin graft and flap coverage. Herein, we describe a patient with Duchenne muscular dystrophy who developed critical limb ischemia after femoral cannulation for extracorporeal membrane oxygenation was used during knee disarticulation, which was followed by reconstruction of the defect around the knee using a pedicled anterolateral thigh flap and skin graft.

Stellate Ganglion Phenol Block -Case reports- (성상신경절 페놀차단 -증례 보고-)

  • Kim, Dae-Young;Cho, Hee-Won;Oh, Hung-Kun
    • The Korean Journal of Pain
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    • v.8 no.2
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    • pp.312-318
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    • 1995
  • Stellate ganglion block is extensively performed in pain closing to treat a diversity of diseases. Stellate ganglion phenol neurolysis, however, has not been not popular because of risk and complications such as: permanent horner's syndrome, hoarseness, pneumothorax and intravascular or intraspinal injection. But Racz recently performed stellate ganglion phenol neurolysis successfully, under fluoroscopic guide, minus significant complication. Three patients were recently treated at our pain clinic by repeated stellate ganglion block with local anesthetics. Patients showed immediate signs of improvement but prolonged pain relief was not achieved. Therefore we reported to performing stellate ganglion phenol neurolysis following Racz's technique. We successfully treated: two cases of reflex sympathetic dystrophy of the upper extremity, and a case of postherpetic neuralgia of jaw, neck and upper chest wall, by stellate ganglion phenol neurolysis, devoid of any significant complications.

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Reflex Sympathetic Dystrophy following Carbon Monoxide Intoxication (일산화탄소 중독후에 발생한 반사성 교감신경성 위축증)

  • Han, Young-Jin;Choe, Huhn
    • The Korean Journal of Pain
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    • v.6 no.2
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    • pp.261-264
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    • 1993
  • A 26 year old male patient had admitted to the department of plastic surgery for the treatment of skin defect of forearm and spastic contracture of right hand, attributable to burn injury following carbon monoxide intoxication. After receiving skin graft the patients tenotomy of flexor tendons, the patients was consulted to pain clinic for further evaluation and treatment of allodynia, hyperalgesia, and hyperpathia with marked emotional insufficiency. The patient was treated with stellate ganglion blocks, intermittent or continuous epidural blocks, and intermittent brachial plexus blocks for 3 months. with this treatment the patient's pain level improved to(VAS 10 to 4~5) and was discharged. The patient was readmitted 3 months later, due to the aggrzvation of pain. Brachial plexus blocks were given again by interscalene, supraclavicular, or axillary route, sometimes using a catheter, together with cervical epidural blocks. Tricyclic antidepressant was also prescribed. The results were remarkably good(VAS 2~3) and the patient did not require any further analgesic medication.

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A female patient with Xp21 gene deletion syndrome

  • Kim, Jungeun;Lee, Hyunjoo;Na, Ji-Hoon;Lee, Young-Mock
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.101-104
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    • 2021
  • Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.