• Title/Summary/Keyword: manifestation

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Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?

  • Park, Sowon;Kang, Hoon-Chul;Lee, Jin-Sung;Park, Young Nyun;Kim, Seung;Koh, Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.20 no.4
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    • pp.259-262
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    • 2017
  • Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

A Clinical Case Report Set of Pattern of Soyangin Yin Collapse and Taeumin Dryness-heat Diagnosed with Chronic Urticaria (만성 두드러기를 진단 받은 소양인 망음증 및 태음인 조열증 환자 치험 각 1례)

  • Lee, Jiyeon;Lee, Min-jung;Hwang, Minwoo
    • Journal of Sasang Constitutional Medicine
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    • v.34 no.2
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    • pp.84-96
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    • 2022
  • Introduction Chronic idiopathic urticaria in patients diagnosed with an unfavorable pattern in Soyangin and Taeumin based on Sasang medicine showed a significant improvement after herbal medicine treatment. Methods The patients had treatment with both herbal medication and antihistamine. We checked the patients' cutaneous manifestation, original symptoms, and the number of antihistamine doses in each visit. We evaluated the medical records retrospectively. Results After one month of treatment, the patients showed cutaneous manifestation relief. Each patient reduced and withdrew antihistamine at four moths and eight months respectively, and the cutaneous manifestation did not recur. We maintained the herbal medicine prescription until the origin symptoms improved. Throughout the subsequent follow-up, the patients showed both urticaria and the original symptoms in good condition without treatment. Discussion Sasang medicine treatment can be an effective treatment for chronic idiopathic urticaria and long-term management is necessary for an unfavorable pattern which can take more than 6 months.

The Clinical Observation of Facial Palsy Sequela (안면신경마비 후유증에 대한 임상적 고찰)

  • 김남권
    • The Journal of Korean Medicine
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    • v.23 no.1
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    • pp.100-111
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    • 2002
  • Objectives : In order to obtain the clinical type of facial palsy sequelae and try to make the treatment protocols for each, I observed patients who visited Gunpo-Wonkwang oriental medicine center with Bell’s palsy sequelae that were treated over three months. Methods : I make the value standard of muscle paralysis, contraction, synkinesis and acquired the results as follows. Results and Conclusions : 1. The distribution of age and sex was as follows : females of 41-50 years were the most common demographic, females of 51-60 years and males of 31-40 years were the second, males of 51-60 years were the third, females of 21-30 years and males of over 60 years were the fourth, and males of 41-50 years were the fifth. 2. The distributions of period of disease were as follows : 3-6 months was the most, 12-18 months was the second, 6-12 months and over 24 months was the third, and 18-24 months was the fourth. 3. The sequelae distributions of disease were as follows. In the group of 3-6 months, 12 persons (80%) showed palsy and atrophy, 10 persons (66.6%) showed synkinetics. In the group of over 6 months, all patients showed muscle palsy, muscle atrophy and synkinetics. All groups showed lower sensitivity of muscles, but the group of 18-24 months and the group of over 24 months showed more. Tinnitus was shown by the groups of 12-18 months and 3-6 months. Facial muscle pain was shown by the group of3-6 months only, Crocodile's tear was shown by the groups of 18-24 months and over 24 months. 4. The total palsy rates of sequela patients and palsy rates by muscle for disease period were as follows. The total palsy rate was 27.94%; the palsy rates for the group of 6-12 months and the group of over 24 months was lower than the total palsy rate. The rates of the groups of 3-6, 12-18, 18-24 months were higher than the total palsy rate. The palsy rate of zygomatic minor, levator labii superior muscle was higher than the total palsy rate for all groups. 5. Synkinetics manifestation rates by disease period were as follows. Total synkinetics manifestation rate was 73.81 %; the manifestation rate of the group of 6-12 months was lower than total synkinetics manifestation rate. For the groups of 12-18, 18-24, and over 24 months it was more than the total synkinetics manifestation rate. The group of over 24 months, total synkinetics induced by orbicularis oculi muscle and orbicularis oris muscle. 6. Facial muscle atrophy rates by disease period were as follows. Total atrophy rate was 5.26%; in the groups of 6-12, 18-24, over 24 months, the atrophy rates were higher than the total atrophy rate. The groups of 3-6 and 12-18 months showed lower than the total atrophy rates, while the atrophy of the levator palpebrae superioris muscle and levator palpebrae inferioris muscle was higher than in other groups.

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Polymyositis After Bone Marrow Transplantation: As an Uncommon Manifestation of Chronic Graft-Versus-Host Disease? or Autoimmune Process? (골수이식 이후의 다발근육염: 만성 이식편대숙주병의 드문 증상인가? 자가면역작용인가?)

  • Choi, Won-Cheol;Jung, Yong-Han;Yang, Yeong-Il;Bae, Jong-Seok
    • Annals of Clinical Neurophysiology
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    • v.13 no.1
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    • pp.58-60
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    • 2011
  • Chronic graft-versus-host disease (GVHD) is a well-known complication of allogeneic bone marrow transplantation (BMT) and has heterogeneous manifestations, with multi-organ involvement. Recently, polymyositis (PM) was reported to be a rare manifestation of chronic GVHD. Here, we report a 30-year-old woman who was diagnosed with PM after allogeneic BMT.

Atypical Correlation between CTG Repeat Size Variation and Clinical Manifestation in Brothers of Myotonic Dystrophy (임상양상과 유전자수가 비전형적인 연관관계를 갖는 근긴장성 이영양증 형제 1례)

  • Kim, Jung-Mee;Cho, Eun-Kyoung;Cho, Jeong-Seon;Choi, Yong-Suk;Han, Young-Su;Han, Jeong-Ho;Kim, Doo-Eung
    • Annals of Clinical Neurophysiology
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    • v.6 no.1
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    • pp.61-63
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    • 2004
  • The copy numbers of the CTG repeats are known to relate to the severity of clinical symptoms for myotonic dystrophy. The positive correlation between clinical manifestations and CTG repeat size has been demonstrated previously. A genetically confirmed myotonic dystrophy patient with 90 CTG repeat number had more severe clinical manifestation than brother with 120 CTG repeats, in adulthood.

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Hydrocephalus as a Presenting Manifestation of Neurosarcoidosis : Easy to Misdiagnose as Tuberculosis

  • Lee, Chang-Hyun;Jung, Young-Sub;Lee, Sang-Hyung
    • Journal of Korean Neurosurgical Society
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    • v.48 no.1
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    • pp.79-81
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    • 2010
  • We present a case of hydrocephalus as the primary manifestation of neurosarcoidosis. Sarcoidosis is a rare disease in Korea and its incidence is much lower than that of tuberculosis. Diagnosis is made by pathologic findings and by exclusion of other granulomatous disorders. Neurosarcoidosis is observed in approximately 5% of sarcoidosis. Its common manifestations are facial palsy (50% of patients with neurosarcoidosis) and optic neuritis. Hydrocephalus is a very uncommon reported finding. Although the typical presentation of sarcoidosis such as facial palsy is not a diagnostic dilemma, more atypical presentations such as hydrocephalus with altered mentality in a tuberculosis patient can lead to a misdiagnosis.

Isolated Tricuspid Regurgitation: Initial Manifestation of Cardiac Amyloidosis

  • Yoon, Dong Woog;Park, Byung-Jo;Kim, In Sook;Jeong, Dong Seop
    • Journal of Chest Surgery
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    • v.48 no.6
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    • pp.422-425
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    • 2015
  • Amyloid deposits in the heart are not exceptional in systemic amyloidosis. The clinical manifestations of cardiac amyloidosis may include restrictive cardiomyopathy, characterized by progressive diastolic and eventually systolic biventricular dysfunction; arrhythmia; and conduction defects. To the best of our knowledge, no previous cases of isolated tricuspid regurgitation as the initial manifestation of cardiac amyloidosis have been reported. We describe a rare case of cardiac amyloidosis that initially presented with severe tricuspid regurgitation in a 42-year-old woman who was successfully treated with tricuspid valve replacement. Unusual surgical findings prompted additional evaluation that established a diagnosis of plasma cell myeloma.

Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome

  • Lee, Jong Uk;Jang, Woo Sung;Lee, Young Ok;Cho, Joon Yong
    • Journal of Chest Surgery
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    • v.49 no.2
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    • pp.115-118
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    • 2016
  • Williams syndrome (WS) is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis (PPAS) are common vascular abnormalities in WS. The natural course of SVAS and PPAS is variable, and the timing of surgery or intervention is determined according to the progression of vascular stenosis. In our patient, SVAS and PPAS showed rapid concurrent progression within two weeks after birth. We report the early manifestation of SVAS and PPAS in the neonatal period and describe the surgical treatment for stenosis relief.

River-Table and Regulation and Cultivation of Four-Manifestation Constitutions of TCM (하도여중의사상체질적조양(河图与中医四象体质的调养))

  • Sun, Guangren;Zhang, Zhe;Liu, Hanyang
    • Journal of Korean Medical classics
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    • v.23 no.5
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    • pp.117-122
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    • 2010
  • The relationship between river-table and five-type individuals with yin-yang's greater and lesser properties from NeiJingaswellasKoreansasangmedicinewasexplored.1.Rivertableisthetheoreticalbasisforthefive-typeconstitutionswithyin-yang'sgreaterandlesserpropertiesandKoreansasangconstitutions:Thecontentoffour-manifestationconstitutionswithyin-yang'greaterandlesserpropertiesinLingShuTongTian,isrelatedtoChangeBook,andcouldbeexplainedandgeneralizedwithriver-table;itissaidthatKoreansasangconstitutionfoundedbyYiJeMaalsostemmedformLingShuTongTian,butitstheoreticalsystemisdifferentfromthatofLingShuTongTian.Thoughthissystemcanbeexplainedandgeneralizedwithriver-table,itsdistributionofinternalorgansisdifferentfromthatofLingShuTongTian.2.Theclinicalmanifestationsoffour-manifestationconstitutionwithyin-yang'slesserandgreaterprpertiesofTCM,includingpersonality,behaviorpatternandliabilitytocertaindiseases,wereexploredandtheregulatingandcultivatingprinciplesbasedonriver-tabletofour-manifestationconstitutionswithyin-yang'sgreaterandlesserpropertiesalsowereestablished:IndividualsofShaoyang(lesseryang)constitutionshouldpayattentiontoliverqi'sascendinganddispersing,andharmonizationofliveryinandliveryanginspring;individualsofTaiyang(greateryang)constitutionshouldemphasizetheclearinganddescendingofheartqiandharmonizationofheartyinandheartyanginsummer;individualsofShaoyin(lesseryin)constitutionshouldattachimportancetodispersing,purifyinganddescendingoflungqiandharmonizationoflungyinandlungyanginautumn;individualsofTaiyin(greateryin)shouldlaystressonthecultivatingofkidneyqi'sascendingandsteaming,andharmonizationofkidneyyinandkidneyyanginwinter.Besides,individualsofthefourtypesmentionedaboveshouldcultivateandregulateqiofspleenandstomach,fortheascending-descendingandharmonizationofstomachqiandspleenqiisthebasisforthenormalorhealthybodyconstitution,andtheroottoremedythetendenciesoffour-manifestationconstitutions.

A Study on the Early-Age Strength Properties of Recycled Fine Aggregate Mortar Using Blast Furnace Slag (고로슬래그를 사용한 재생 잔골재 모르타르의 초기강도 특성에 관한 연구)

  • Shim, Jong-Woo;Lee, Sea-Hyun;Seo, Chi-Ho
    • Proceedings of the Korea Concrete Institute Conference
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    • 2006.05b
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    • pp.101-104
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    • 2006
  • This study aims to obtain technical data for improvement of utilization of Blast Furnace Slag(BFS), recycled aggregate in the future by complementing fundamental problems of BFS such as manifestation of initial strength and excessive alkali quantity as well as weakness of recycled fine aggregate through manufacturing of recycled fine aggregate mortar using BFS. Since hydroxide ion concentration of calcium hydroxide(Ca(OH)2) ion erupted from recycled fine aggregate newly produced is over 12. In recycled fine aggregate mortar transposing and using BFS powder, calcium hydroxide(Ca(OH)2) erupted from recycled fine aggregate played a role of stimulus from the day 3 and manifestation of compressive strength was slowly increased with mortar using natural fine aggregate and showed considerable increase from the day 7.

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