• Title/Summary/Keyword: Connective Tissue Diseases

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Joint Problems in Patients with Mucopolysaccharidosis Type II

  • Kim, Min-Sun;Kim, Jiyeon;Noh, Eu Seon;Kim, Chiwoo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.5 no.1
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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.

A Case Report of Localized Form of Follicular Bronchitis/Bronchiolitis with Fibrosis (종괴성 병변을 보인 여포성 기관지염/세기관지염 1예 보고)

  • Kim, Myeong-Seong;Lim, Sung-Chul;Kim, Yun-Hyeon;Na, Kook-Joo;Kim, Kyung-Soo;Kwon, Kun-Young;Kim, Young-Chul;Park, Kyung-Ok
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.1
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    • pp.191-196
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    • 1998
  • Follicular bronchitis/bronchiolitis is pathologically characterized by peribronchiolar lymphoid follicles, which is one of reactive pulmonary lymphoid disorders. It is associated with 1) the result of infections such as mycoplasma, chlamydia etc., 2) immunodeficiency syndromes, 3) connective tissue diseases such as rheumatoid arthritis and Sjogren's syndrome and 4) local or systemic hypersensitivity reaction. And it can be also developed without obvious causes and associated diseases(idiopathic). Radiologically it represents as bilateral interstitial patterns of pulmonary infiltrates. In this case, a 49 year-old woman was presented with intermittent cough and sputum. On chest X-ray and CT, $5\times4$ cm sized mass in right upper lobe and paratracheal lymphadenopathies were detected, by which lung malignancy was suspected. Bronchoscopy, trans bronchial lung biopsy and transthoracic needle aspiration showed non-specific findings only. After right upper lobectomy, we could confirm a case of follicular bronchiolitis which presented as an unusual mass-like radiologic finding.

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Expression profile of mitochondrial voltage-dependent anion channel-1 (VDAC1) influenced genes is associated with pulmonary hypertension

  • Zhou, Tong;Tang, Haiyang;Han, Ying;Fraidenburg, Dustin;Kim, Young-Won;Lee, Donghee;Choi, Jeongyoon;Bang, Hyoweon;Ko, Jae-Hong
    • The Korean Journal of Physiology and Pharmacology
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    • v.21 no.3
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    • pp.353-360
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    • 2017
  • Several human diseases have been associated with mitochondrial voltage-dependent anion channel-1 (VDAC1) due to its role in calcium ion transportation and apoptosis. Recent studies suggest that VDAC1 may interact with endothelium-dependent nitric oxide synthase (eNOS). Decreased VDAC1 expression may limit the physical interaction between VDAC1 and eNOS and thus impair nitric oxide production, leading to cardiovascular diseases, including pulmonary arterial hypertension (PAH). In this report, we conducted meta-analysis of genome-wide expression data to identify VDAC1 influenced genes implicated in PAH pathobiology. First, we identified the genes differentially expressed between wild-type and Vdac1 knockout mouse embryonic fibroblasts in hypoxic conditions. These genes were deemed to be influenced by VDAC1 deficiency. Gene ontology analysis indicates that the VDAC1 influenced genes are significantly associated with PAH pathobiology. Second, a molecular signature derived from the VDAC1 influenced genes was developed. We suggest that, VDAC1 has a protective role in PAH and the gene expression signature of VDAC1 influenced genes can be used to i) predict severity of pulmonary hypertension secondary to pulmonary diseases, ii) differentiate idiopathic pulmonary artery hypertension (IPAH) patients from controls, and iii) differentiate IPAH from connective tissue disease associated PAH.

Pneumatosis Intestinalis Complicated by Pneumoperitoneum in a Patient with Asthma

  • Choi, Joon Young;Cho, Sung Bae;Kim, Hyun Ho;Lee, In Hee;Lee, Hea Yon;Kang, Hye Seon;Lee, Hwa Young;Lee, Sook Young
    • Tuberculosis and Respiratory Diseases
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    • v.77 no.5
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    • pp.219-222
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    • 2014
  • Pneumatosis intestinalis (PI) is a very rare condition that is defined as the presence of gas within the subserosal or submucosal layer of the bowel. PI has been described in association with a variety of conditions including gastrointestinal tract disorders, pulmonary diseases, connective tissue disorders, organ transplantation, leukemia, and various immunodeficiency states. We report a rare case of a 74-year-old woman who complained of dyspnea during the management of acute asthma exacerbation and developed PI; but, it improved without any treatment.

Short-Term Lung Function Changes and Predictors of Progressive Systemic Sclerosis-Related Interstitial Lung Disease

  • Kaenmuang, Punchalee;Navasakulpong, Asma
    • Tuberculosis and Respiratory Diseases
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    • v.83 no.4
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    • pp.312-320
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    • 2020
  • Background: Systemic sclerosis (SSc) involves multiple organ systems and has the highest mortality among connective tissue diseases. Interstitial lung disease is the most common cause of death among SSc patients and requires closer studies and follow-ups. This study aimed to identify lung function changes and predictors of progressive disease in systemic sclerosis-related interstitial lung disease (SSc-ILD). Methods: A retrospective study extracted SSc patients from an electronic database January 2002-July 2019. Eligible cases were SSc patients >age 15 diagnosed with SSc-ILD. Factors associated with progressive disease were analyzed by univariate and multivariate logistic regression analyses. Results: Seventy-eight SSc-ILD cases were enrolled. Sixty-five patients (83.3%) were female, with mean age of 44.7±14.4, and 50 (64.1%) were diffuse type SSc-ILD. Most SSc-ILD patients had crackles (75.6%) and dyspnea on exertion (71.8%), and 19.2% of the SSc-ILD patients had no abnormal respiratory symptoms but had abnormal chest radiographic findings. The most common diagnosis of SSc-ILD patients was non-specific interstitial pneumonia (43.6%). The lung function values of diffusing capacity of the lung for carbon monoxide (DLCO) and DLCO per unit alveolar volume declined in progressive SSc-ILD during a 12-month follow-up. Male and no previous aspirin treatment were the two significant predictive factors of progressive SSc-ILD with adjusted odds ratios of 5.72 and 4.99, respectively. Conclusion: This present study showed that short-term lung function had declined during the 12-month follow-up in progressive SSc-ILD. The predictive factors in progressive SSc-ILD were male sex and no previous aspirin treatment. Close follow-up of the pulmonary function tests is necessary for early detection of progressive disease.

Spontaneous renal artery dissection in Ehlers-Danlos syndrome (엘러스-단로스 증후군에 발생한 자발성 신장동맥 박리)

  • Lim, Byung-Hun;Lee, Song-I;Lim, Jae-Hong;Oh, Su-Jin;Chu, Min-Su;Ahn, Seon-Ho;Byun, Seung-Jae
    • Journal of Yeungnam Medical Science
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    • v.33 no.1
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    • pp.44-47
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    • 2016
  • Primary dissection of the renal artery is rare. Spontaneous renal artery dissection can be associated with diseases such as medial degeneration, neurofibromatosis, syphilitic arteritis, tuberculosis, polyarteritis nodosa, Marfan syndrome, fibromuscular dysplasia, or Ehlers-Danlos syndrome (EDS). Among these causes, EDS related renal artery dissection is very rare worldwide and has not been previously reported in Korea. EDS are a group of heritable connective tissue disorders characterized by fragility of the skin and hypermobility of the joints. We describe the case history of a young man who presented with left side flank pain, hypermobility of the hand joints and showed left renal artery dissection on computed tomography and angiography that turned out to be the first complication of vascular type EDS.

The Importance of Treatment for the Patients with Chronic Pain (만성통증 환자 치료의 중요성)

  • Song, Ji-Young
    • Korean Journal of Psychosomatic Medicine
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    • v.7 no.2
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    • pp.252-255
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    • 1999
  • Numbers of patients who have chronic pain seem to be increasing even in the psychiatric practice. One report in Korea showed more than 40% of psychiatric patients who visited out-patient clinic were suffered from chronic pain and one third of those patients were needed treatment for the on-going pain. For evaluating and treating those patients the charateristics of illness behavior should be understood. Abnormal Illness behavior was found as one of the most influential factors which led symptoms complicated and chronified. This symposium was planned to illustrate how to manage the patients whose pain are associated with arthropathy and connective tissue diseases, neuropathic pain and headache more effectively and efficiently. So, It is hoped to get fruitful knowledges for the management of chronic pain in the scope of consultation-liaison psychiatry.

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One case of Coxsackievirus induced Pancarditis (Coxsackie Virus에 의한 Pancarditis 1례)

  • Jang, Chang Kyun;Cho, Byung Soo;Choi, Yong Mook;Cha, Sung Ho
    • Pediatric Infection and Vaccine
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    • v.2 no.2
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    • pp.200-206
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    • 1995
  • Myocarditis refers to inflammation, necrosis, or myocytolysis that may be due to many infectious, connective tissue and many other causes affecting the myocardium or involvement of the endocardium or pericardium. The most common manifestation is congestive heart failure, although arrhythmias and sudden death may be the first sign of myocarditis. Viral myocarditis is typically a sporadic but occasionally epidemic illness, noted as an acute potentially fulminant disease of 1-to 4-wk-old infants, as an acute but more benign myopericarditis of toddlers and young children. The most common casuative agent in viral myocarditis is Coxsackievirus and the outcome of the biopsy-proven chronic dilated cardiomyopathy associated with Coxsackievirus is poor without therapy. Myocarditis may be confirmed by percutaneous endomyocardial biopsy and the viral myocarditis may be diagnosed by the serological viral study with the clinical manifestations. He was admitted for the management of tachyarrhythmias occurred suddenly without prodromal symptoms and signs and diagnosed as viral pancarditis by serological Coxsackievirus study, echocardiogram, chest x-ray, EKG and other clinical manifestations.

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The Diagnosis and Treatment of Mucous Membrane Pemphigoid (점막 유천포창의 진단 및 치료)

  • Min, Suk-Jin;Park, June-Sang;Ko, Myung-Yun
    • Journal of Oral Medicine and Pain
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    • v.26 no.2
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    • pp.121-126
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    • 2001
  • Mucous membrane pemphigoid is uncommom disease in oral cavity and synonymous with cicatricial pemphigoid. This disease is caused by autoimmune reaction that autoantibody reacts antigen located in basement membrane and epithelium is separated from underlying connective tissue. It affects female over sixth decade, commonly. Oral mucosa, especially gingiva is common site but conjunctival, nasal, pharyngeal, laryngeal, esophageal, varginal mucosa and skin are involved. Intraoral findings show Nikolsky sign, irregular erythema, erosion, vesicle, and ulceration at mucous membrane. To differentiate from diseases of positive Nikolsky sign, should perform histologic, immunologic test. Histologic features show subbasilar cleft and direct immunologic features show IgG, C3 deposits at basement membrane in linear pattern. Mucous membrane pemphigoid is incurable disease because symptoms are repetitively improved or worsed for several years. Patiens are commonly managed with topical and systemic steroid. To avoid side effects of prolonged steroid therapy and to maintain immunosupressive effects, combination therapy of azathioprine with steroid is effective. This case reports that mucous membrane pemphigoid is diagnosed based on clinical and histologic features, is treated with topical, systemic steroid and azathioprine therapy.

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High dose vitamin D injection induced severe hypercalcemia (비타민 D 고용량 주사로 인한 심한 고칼슘혈증 발생 1예)

  • Lee, Sang Ah;Moon, Jae Cheol
    • Journal of Medicine and Life Science
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    • v.16 no.1
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    • pp.31-33
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    • 2019
  • Hypercalcemia is often seen in patients, but most of them showed mild to moderate hypercalcemia. The severe hypercalcemia with a blood calcium level of 14.0 mg/dL or more is known to be associated mainly with malignant tumors. Because this is emergency status, most clinicians tried to decrease serum calcium level to near normal range to improve symptoms related to hypercalcemia. A 71-year-old female patient visited the emergency room with dizziness and general weakness. Her serum calcium level was very high (15.6 mg/dL), but serum PTH, 25-OH vitamin D, and PTH related peptide were normal. We can exclude hyperparathyroidism, familial hypocalciuric hypercalcemia, other connective tissue diseases, and hypercalcemia due to malignant tumors as a cause of severe hypercalcemia. Conclusively, we diagnosed as severe hypercalcemia due to high-dose vitamin D injections treated one week ago. High dose vitamin D injections have recently been shown to increase the frequency of prescription as the various causes and the clinicians needed to carefully monitor the serum calcium levels in the patients after treating with high dose vitamin D.