• 제목/요약/키워드: Rare disease

검색결과 2,231건 처리시간 0.034초

편측안면경련 환자에서 미세혈관 감압수술 후 발생한 구안와사 환자 3례 (The Clinical Observation on 3 Cases of Facial Palsy Following Microvascular Decompression in Hemifacial Spasm Patients)

  • 김종인;최양식;김행범;김주희;이로민;김건형;이재동;강성길;고형균
    • Journal of Acupuncture Research
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    • 제23권6호
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    • pp.229-238
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    • 2006
  • Background and Objetive : The aim of this study is to report 3 cases of facial palsy following microvascular decompression in hemifacial spasm patients. It is a rare disease, with few research on the effect of acupuncture therapy on it. Material and Method : We selected 3 cases of facial palsy following microvascular decompression in hemifacial spasm patients, among patients who visited the Facial palsy Clinic of Kyunghee Oriental Medical Center. We treated them with acupuncture therapy(ST6, ST4, BL2, TE17, GV24, GV14, and Ex-HN4 of the healthy side, and LI4 and ST36 of both sides) and aroma therapy. After treatment we observed and checked any changes within clinical symptoms using the House-Brackmann Grade and the Yanagihara's Unweighted Grading System. Result and Conclusion : 1. All three cases were of hemifacial spasm patients who had facial palsy following microvascular decompression. The patients visited 27 months(Case1), 2 months(Case2) and 7 months(Case 3) after the surgery respectively. 2. Period of time till complete recovery is 23 months(Case1), 8 months(Case2) and 3 month (Case3) respectively. 3. All three cases had symptoms of sequelae: retraction of mouth toward the healthy side and involuntary spasm of lips. The later the initiation of treatment after the sugery, the more severe symptoms of sequelae.

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유치열에서의 고빌리루빈혈증과 연관된 초록색 변색 (Green Teeth Associated Hyperbilirubinemia in Primary Dentition)

  • 박민경;선예지;강정민;이효설;송제선
    • 대한소아치과학회지
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    • 제44권3호
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    • pp.378-383
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    • 2017
  • 치아 변색을 일으키는 다양한 원인들이 있다. 혈중 빌리루빈의 증가도 치아변색을 일으킬 수 있는데 이는 드문 경우이나, 대부분 초록색 변색이 보고 되었다. 본 증례는 신생아 고빌리루빈혈증 병력이 있는 환아의 유치의 초록색 변색에 대한 것이다. 16개월, 22개월 두 남아가 맹출한 치아의 비정상적인 색을 주소로 내원하였다. 두 환아의 유치는 법랑질저형성증을 수반한 초록색 변색을 보였다. 두 환아 모두 저체중, 조산아였으며, 신생아 고빌리루빈혈증을 진단받았다. 전신적인 질환은 치아의 형성시기에 경조직에 영향을 줄 수 있으며, 변색도 일으킬 수 있다. 정상적인 치아 발육과 환아의 심미적 요구를 충족시키기 위해 정기적인 관찰이 필요하다. 소아치과의사는 유치열기의 변색을 먼저 관찰 할 수 있다. 이와 같은 증례들을 통해 치과의사는 치아변색에 대해 전신적 질환을 추론할 수 있다.

제 5 우족지의 전이를 동반한 폐암 1예 (A Case of Lung Cancer with Metastasis to the Right Fifth Toe)

  • 이홍렬;김세규;이환모;신동환;장중현;곽승민;장준;김성규;이원영
    • Tuberculosis and Respiratory Diseases
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    • 제40권1호
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    • pp.72-78
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    • 1993
  • 연구배경 : 원발성 폐암의 전이 병소 발견은 병변 자체와 위험한 합병증을 예방하기 위한 치료 계획의 수립에 중요하다. 원발성 폐암은 임파절, 부신, 뇌, 간장, 뼈로 잘 전이되며 뼈중에서는 주로 두개골, 척추, 늑골 그리고 장골 등을 침범한다. 편평상피암에서의 골전이는 다른 폐암에 비하여 비교적 낮은 빈도로 알려져 있으며 특히 원위부 족지골에의 전이는 매우 드물다. 방법 : 저자등은 연세대학교 의과대학 세브란스병원에서 우측 제 5 원위부 족지골에만 전이 병소가 발견된 폐암 1 예를 경험하였다. 결과 : 처음 편평상피암의 진단시에 T4N3MO의 상태였으며 세 번째 항암제 투여시 처음으로 원격 전이가 제 5 원위부 족지골에 국한되어 발견되었다. 단순 골사진과 전신 골 주사검사상 우측 제 5 원위부 족지골의 국소적 이상 소견이 관찰되었으며 제 5 족지의 절단 조직검사에서 폐의 편평상피암이 전이된 병변임을 병리조직학적으로 확인할 수 있었다. 결론 : 본 증례의 특징은 뼈중에서도 통상적으로 전이가 잘되는 두개골, 철추, 늑골이나 장골이외에 제 5 원위부 족지골에 처음 전이가 된 것이다. 따라서 원발성 폐암 환자에서 이학적 검사상 국소적인 염증같은 이상 소견이 발견되면 가능성은 비록 적더라도 전이성 병변을 의심해 보는 것이 필요하리라고 생각된다.

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폐종괴와 기관지 탄분섬유화로 발현한 Mycobacterium kansasii 감염 1 예 (Mycobacterium Kansasii Disease Presenting As a Lung Mass and Bronchial Anthracofibrosis)

  • 나승원;이광하;정주영;강호석;박이내;최혜숙;정훈;전규락;심태선
    • Tuberculosis and Respiratory Diseases
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    • 제60권4호
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    • pp.464-468
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    • 2006
  • 폐종괴로 발현하는 M. kansasii 감염은 흔하지 않으며 기관지 탄분섬유화증을 동반한 M. kansasii 폐감염에 대한 보고는 아직 없었다. 기저질환 없이 면역력이 정상인 비흡연자에서 우하엽의 폐종괴로 발현하고 기관지 탄분섬유화증을 동반한 M. kansasii 폐감염에 대하여 표준 치료로 호전되고 있는 증례를 경험하였기에 보고하는 바이다.

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

  • Lee, Ok-Jeong;Kim, Su-Jin;Sohn, Young-Bae;Park, Hyung-Doo;Lee, Soo-Youn;Kim, Chi-Hwa;Ko, Ah-Ra;Yook, Yeon-Joo;Lee, Su-Jin;Park, Sung-Won;Kim, Se-Hwa;Cho, Sung-Yoon;Kwon, Eun-Kyung;Han, Sun-Ju;Jin, Dong-Kyu
    • Clinical and Experimental Pediatrics
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    • 제55권3호
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    • pp.88-92
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    • 2012
  • Purpose: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. Methods: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl- ${\alpha}$-iduronate 2-sulphate. Results: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type ($p$=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 $nmol{\cdot}4hr^{-1}{\cdot}mL^{-1}$. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; $p$=0.003). Conclusion: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.

Presentation of Retinoblastoma Patients in Malaysia

  • Subramaniam, Shridevi;Rahmat, Jamalia;Rahman, Norazah Abdul;Ramasamy, Sunder;Bhoo-Pathy, Nirmala;Pin, Goh Pik;Alagaratnam, Joseph
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권18호
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    • pp.7863-7867
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    • 2014
  • Background: Retinoblastoma is a rare type of cancer that usually develops in early childhood. If left untreated it can cause blindness and even death. The aim of this study is to determine sociodemographic and clinical features of retinoblastoma patients and also to determine the treatment pattern and outcome in Malaysia. Materials and Methods: Data for this study were retrieved from the Retinoblastoma Registry of the National Eye Database (NED) in Malaysia. Hospital Kuala Lumpur, Hospital Umum Kuching, Sarawak and Hospital Queen Elizabeth, Kota Kinabalu were the major source data providers for this study. Data collected in the registry cover demography, clinical presentation, modes of treatment, outcomes and complications. Results: The study group consisted of 119 patients (162 eyes) diagnosed with retinoblastoma between 2004 and 2012. There were 68 male (57.1%) and 51 (42.9%) female. The median age at presentation was 22 months. A majority of patients were Malays (54.6%), followed by Chinese (18, 5%), Indians (8.4%), and indigenous races (15.9%). Seventy six (63.8%) patients had unilateral involvement whereas 43 patients had bilateral disease (36.1%). It was found that most children presented with leukocoria (110 patients), followed by strabismus (19), and protopsis (12). Among the 76 with unilateral involvement (76 eyes), enucleation was performed for a majority (79%). More than half of these patients had extraocular extension. Of the 40 who received chemotherapy, 95% were given drugs systemically. Furthermore, in 43 patients with bilateral involvement (86 eyes), 35 (41%) eyes were enucleated and 17 (49%) showed extraocular extension. Seventy-two percent of these patients received systemic chemotherapy. The patients were followed up 1 year after diagnosis, whereby 66 were found to be alive and 4 dead. Sixteen patients defaulted treatment and were lost to follow-up, whereas follow-up data were not available in 33 patients. Conclusions: Patients with retinoblastoma in this middle-income Asian setting are presenting at late stages. As a result, a high proportion of patients warrant aggressive management such as enucleation. We also showed that a high number of patients default follow-up. Therefore, reduction in refusal or delay to initial treatment, and follow-up should be emphasized in order to improve the survival rates of retinoblastoma in this part of the world.

주타액선종양 104례에 대한 분석 (A Clinical Analysis of Major Salivary Gland Tumors-104 Cases)

  • 김명상;김영호;홍정표;최은창;김광문;홍원표
    • 대한두경부종양학회지
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    • 제14권1호
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    • pp.40-45
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    • 1998
  • Backgroud and Objectives: Major salivary gland tumor is a rare disease with a largely unknown origin. And also corresponding to the diversity of histopathologic characteristics is an equally wide distribution of clinical behavior that makes treatment decisions difficult. The aim of this study is to analysis the clinical experience of our major salivary gland tumor and to suggest a guidline of management. Materials and Methods : We studied clinical manifestations and treatment results of 104 patients who were diagnosed as major salivary gland tumors. Tumor site, patient age and sex of the patients were analysed. Histopathologic diagnosis, treatment modality, lymph nodes metastasis, recurrence rate and 5-year survival rate were studied on malignant tumors. Results: 1) 48 patients were male and 56 patients were female. 2) Benign tumors were 79 cases. They consisted of 57 cases(72%) of parotid tumor, 22 cases(27%) of submandibular tumor. And pleomorphic adenoma was the most common benign tumor. 3) Malignant tumors were 25 cases and were consisted of 19 cases(76%) of parotid tumor, 4 cases(l6%) of submandibular tumor and 2 cases(8%) of sublingual gland tumor with high-grade mucoepidermoid carcinoma as the most common cause. 4) In the malignant tumors, the number of stage I, II tumors was 14 and that of stage III, IV tumors was 11. Neck node metastasis was noted in 8 cases. 5) 8 cases of malignant tumor were died and all of them had high-grade malignancy. And they were dead before 17 months from the time of diagnosis. 6) Mean survival duration in the malignant salivary gland tumor was 56 months. 7) High-grade malignancy had a 5-year survival rate of 57.9%. A 5-year survival rate of TI, T2 patients was 92.9% and that of T3, T4 patients was 36.4%. That of patients who had neck node metastasis was 37.5% and that of those who had tree neck was 82.4%. Conclusion: The results of this study suggest that the survival rate is dependent on the tumor size, lymph node matastasis and histologic grade. And also the early diagnosis and radical surgery result in the increased survival rate and are effective for prevention of the tumor recurrance.

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복부 운동 방법에 따른 호흡기능 변화 비교 (Effects of Abdominal Exercise Methods on Breathing Ability)

  • 배원식;문현주;이건철
    • 대한통합의학회지
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    • 제8권1호
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    • pp.137-146
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    • 2020
  • Purpose : The enhancement of abdominal muscles increases the activation and contraction of respiratory muscles, including the diaphragm. Generally, diaphragm exercises are applied to increase the breathing ability of patients with respiratory disease. Previous studies have shown that breathing capacity can be increased through abdominal muscle strengthening exercises. However, studies on breathing ability are rare and it is doubtful whether these affect respiratory ability more than diaphragm exercises. Therefore, this study seeks to compare whether abdominal exercises can improve breathing ability and whether any increase is comparable to diaphragm exercises. Methods : After selecting subjects, the place of intervention was separated for blindness. The plank group was allowed to relax for 30 seconds after 30 seconds of planking; this was set at three and increased by one set each week. Subjects in the draw-in group were allowed to relax for 30 seconds after maintaining the draw-in contraction state for 30 seconds and this was done for 15 minutes. Subjects in the control group underwent abdominal dilation for five seconds of inspiration time and expired air for five seconds by exposing the lips; breathing was performed repeatedly for 15 minutes. Subjects in each group measured their respiration function three times before intervention, three weeks after the commencement of intervention and after intervention. Spirovit SP-1 was used to measure respiratory function. In each group, repeated ANOVA was used to compare the respiratory function over time and one-way ANOVA was used to compare the respiratory function between groups. The post hoc was conducted using the LSD method. Results : There was a significant increase in respiratory ability between the forced vital capacity (FVC), forced expiratory volume in one second (FEV1) and peak expiratory flow (PEF), forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) according to the six-week period. However, there was no difference between each group. Conclusion : For patients with low respiratory muscle strength, plank exercises and abdominal draw-in are beneficial exercises for improving respiratory function. These are expected to be widely used in clinical practice for patients with weak respiratory muscles.

원발성 결절성 폐실질형 유전분증 1예 (A Case of Primary Diffuse Nodular Pulmonary Amyloidosis Localized in the Lung)

  • 정성권;오준;노양원;공희상;박계영;박정웅;박재경;남귀현;하승연;이한경;정성환
    • Tuberculosis and Respiratory Diseases
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    • 제49권3호
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    • pp.365-371
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    • 2000
  • 유전분증은 비정상적인 섬유성 형태의 단백질이 세포 외 조직에 침착하는 질환이고, 원발성 폐유전분증은 매우 드물게 보고되고 있다. 원발성으로 발생한 경우 기관기관지형은 기도폐쇄를 일으킬 경우에 외과적 절제술이나 레이저 치료술로 치료를 해야하고 미만성 폐포격막형인 경우 호흡부전과 객혈 등으로 예후가 나쁘지만, 결절성인 경우에는 대부분 예후가 좋은 편이나, 드물게는 호흡곤란, 중증 객혈, 및 호흡부전을 일으킬 수 있으며 단일 결절일 때는 악성 종양과의 감별 및 치료적 방법으로 수술적 절제가 필요할 수도 있다. 저자들은 타 장기의 침윤이 없이 폐에만 단독으로 침범한 원발성 다발성 결절성 유전분증 1예를 조직검사를 통하여 확진 후 문헌 고찰과 함께 보고하는 바이다.

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The Effects of Bronchiectasis on Asthma Exacerbation

  • Kang, Hye Ran;Choi, Gyu-Sik;Park, Sun Jin;Song, Yoon Kyung;Kim, Jeong Min;Ha, Junghoon;Lee, Yung Hee;Lee, Byoung Hoon;Kim, Sang-Hoon;Lee, Jae Hyung
    • Tuberculosis and Respiratory Diseases
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    • 제77권5호
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    • pp.209-214
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    • 2014
  • Background: Bronchiectasis and asthma are different in many respects, but some patients have both conditions. Studies assessing the effect of bronchiectasis on asthma exacerbation are rare. The aim of this study is to investigate the effect of bronchiectasis on asthma exacerbation. Methods: We enrolled 2,270 asthma patients who were followed up in our hospital. Fifty patients had bronchiectasis and asthma. We selected fifty age- and sex-matched controls from the 2,220 asthma patients without bronchiectasis, and assessed asthma exacerbation and its severity based on the annual incidence of total asthma exacerbation, annual prevalence of steroid use, and frequency of emergency room visits and hospitalizations due to asthma exacerbation in each group. Results: Fifty patients (2.2%) had bronchiectasis and asthma. The annual incidence of asthma exacerbation was higher in patients with asthma and bronchiectasis than in patients with asthma alone ($1.08{\pm}1.68$ vs. $0.35{\pm}0.42$, p=0.004). The annual prevalence of steroid use ($0.9{\pm}1.54$ vs. $0.26{\pm}0.36$, p=0.006) and the frequency of emergency room visits ($0.46{\pm}0.84$ vs. $0.02{\pm}0.13$, p=0.001) due to asthma exacerbation were also higher in patients with asthma and bronchiectasis than in patients with asthma alone. Conclusion: Bronchiectasis is associated with difficult asthma control.