• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.5-7
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• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• Parasites, Hosts and Diseases
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• 제43권1호
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• pp.15-18
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• 2005

The diagnosis of human hydatidosis is primarily made using radiological and serological methods. Radiological methods are generally of low specificity and serological methods lack sensitivity, especially for pulmonary disease. In this study the capabilities of a new rapid test, the hydatid antigen dot immunobinding assay (HA-DIA), which was developed for the diagnosis of pulmonary hydatidosis, were studied and compared with another immunodiagnostic method, indirect hemagglutination (IHA). The study subjects included 18 patients, 9 women, 9 men; range 7 to 63 years; mean 30 years, with surgically proven pulmonary hydatidosis, a control group comprised of 14 patients; viral respiratory infections (1), cirrhosis (2), connective tissue disease (2), taeniasis (3), and 6 healthy donors. We found that the HA-DIA test had a sensitivity of $67\%$ and specificity of $100\%$, and that the IHA test had a sensitivity of $50\%$ and specificity of $100\%$. We conclude that HA-DIA is a simple, rapid, low cost assay that does not require instrumentation and has a higher sensitivity than IHA for the diagnosis of pulmonary hydatidosis.

• Tuberculosis and Respiratory Diseases
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• 제83권2호
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• pp.132-140
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• 2020

In human immunodeficiency virus (HIV)-infected patients, Pneumocystis jirovecii pneumonia (PCP) is a well-known opportunistic infection and its management has been established. However, PCP is an emerging threat to immunocompromised patients without HIV infection, such as those receiving novel immunosuppressive therapeutics for malignancy, organ transplantation, or connective tissue diseases. Clinical manifestations of PCP are quite different between patients with and without HIV infections. In patients without HIV infection, PCP rapidly progresses, is difficult to diagnose correctly, and causes severe respiratory failure with a poor prognosis. High-resolution computed tomography findings are different between PCP patients with HIV infection and those without. These differences in clinical and radiological features are due to severe or dysregulated inflammatory responses that are evoked by a relatively small number of Pneumocystis organisms in patients without HIV infection. In recent years, the usefulness of polymerase chain reaction and serum β-D-glucan assay for rapid and non-invasive diagnosis of PCP has been revealed. Although corticosteroid adjunctive to anti-Pneumocystis agents has been shown to be beneficial in some populations, the optimal dose and duration remain to be determined. Recent investigations revealed that Pneumocystis colonization is prevalent and that asymptomatic carriers are at risk for developing PCP and can serve as the reservoir for the spread of Pneumocystis by airborne transmission. These findings suggest the need for chemoprophylaxis in immunocompromised patients as well as infection control measures, although the indications remain controversial. Because a variety of novel immunosuppressive therapeutics have been emerging in medical practice, further innovations in the diagnosis and treatment of PCP are needed.

• Journal of Yeungnam Medical Science
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• 제15권2호
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• pp.350-358
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• 1998

Antiphospholipid antibody syndrome(APS) is a well-known clinical syndrome characterized by recurrent arterial or venous thromboses, recurrent fetal loss, thrombocytopenia, together with high titers of sustained anticardiolipin antibody(aCL) or lupus anticoagulant(LA). Although systemic lupus erythematosus(SLB) and APS may coexist, a high proportion of patients manifesting the APS do not suffer from classical lupus or other connective tissue disease. The patient has been defined as having a primary antiphospholipid antibody syndrome. We experienced one case of primary APS with recurrent fetal loss, recurrent cerebral infarctions, positive anticardiolipin antibody IgG and fluttering vegetation on the mitral valve, without other connective tissue diseases including SLE. Forty-three old female had 2 out of 11 criteria for the diagnosis of SLE, such as thrombocytopenia and positive antinuclear antibody, but did not meet whole criteria. The patient was treated with ticlopidine, and anticoagulant therapy was recommended.

• The Journal of Korean Physical Therapy
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• 제5권1호
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• pp.47-60
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• 1993

This study was conducted to investigate the changes diseases of physical therapy patient. Through the analysis, of total 2,902 cases in one university hospital and one general hospital in Taegu, of which 1,619 cases for 1989 and 1,283 cases for 1981. The physical records were analyzed in terms of sex, age, pattern in PT diseases, fee, and medical department of PT. The international classification of Diseases, 9th revision was used fer the study. Major results are as follows : 1. The ratio of male me female nae 1.51 to 1 in 1989, 1.53 to 1 in 1991. The proportion of the elderly over 60 was $15.6\%$ in 1989, $22.0\%$ in 1989. And the age groups of 50-59 years ranked the first an years. 2. As to the PT patients of medical department, Orthopaedics$(50.3\%)$, Neurosurgery$(28.1\%)$. Neuromedicine$(8.0\%)$. Plastic surgery$(4.4\%)$, and Dentry$(3.2\%)$ in that order in 1989. On the other hand, Orthopaedics$(51.2\%)$, Neurosurgery$(22.1\%)$, Neuromedicine$(9.6\%)$, Plastic surgery$(6.5\%)$, and Internal medicine$(6.5\%)$ in that order in 1991. 3. No significant difference was observed by season of PT patients, but winter (December, January and February) ranked the first all years. 4. No significant difference was observed changes in diseases as for the 56 international classification of diseases of PT patients, Diseases of the musculoskeletal system and connective tissue occupied the largest proportion all years. Fractures increased from $21.4\%$ in 1989, $24.5\%$ in 1991. On the other hand, Diseases of the nervous system remarkably increased from $8.9\%$ in 1989, $19.7\%$ in 1991.

• Tuberculosis and Respiratory Diseases
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• 제82권4호
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• pp.269-276
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• 2019

Idiopathic interstitial pneumonia (IIP) is a histologically identifiable pulmonary disease without a known cause that usually infiltrates the lung interstitium. IIP is largely classified into idiopathic pulmonary fibrosis, idiopathic non-specific interstitial pneumonia, respiratory bronchiolitis-interstitial lung disease (ILD), cryptogenic organizing pneumonia, desquamative interstitial pneumonia, and acute interstitial pneumonia. Each of these diseases has a different prognosis and requires specific treatment, and a multidisciplinary approach that combines chest high-resolution computed tomography (HRCT), histological findings, and clinical findings is necessary for their diagnosis. Diagnosis of IIP is made based on clinical presentation, chest HRCT findings, results of pulmonary function tests, and histological findings. For histological diagnosis, video-assisted thoracoscopic biopsy and transbronchial lung biopsy are used. In order to identify ILD associated with connective tissue disease, autoimmune antibody tests may also be necessary. Many biomarkers associated with disease prognosis have been recently discovered, and future research on their clinical significance is necessary. The diagnosis of ILD is difficult because patterns of ILD are both complicated and variable. Therefore, as with other diseases, accurate history taking and meticulous physical examination are crucial.

• Clinical and Experimental Pediatrics
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• 제50권12호
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• pp.1173-1179
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• 2007

The diagnosis of juvenile rheumatoid arthritis (JRA) is based on patient's age at disease onset, symptom duration, gender, and clinical manifestations. JRA is of unknown origin, begins under the age of 16, and persists for a minimum of 6 weeks. JRA is categorized into three principal types, systemic, oligoarticular and polyarticular. Infection, other connective tissue diseases, malignancy, trauma, and immunodeficiency are discussed as differential diagnoses for JRA. Because of joint damage, focusing on early diagnosis and intervention, a vigorous initial therapeutic approach must be taken in patients who have poor prognostic factors. A multidisciplinary team approach is also important for the care of patients with JRA.

• 대한핵의학회지
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• 제22권1호
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• pp.33-37
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• 1988

Salivary scan and stimulated salivary clearance of $^{99m}Tc-pertechnetate$ was performed in 11 pateients with $Sj\"{o}gren$ syndrome (group I), 4 patients with rheumatoid arthritis (group II), 8 patients with non-connective tissue diseases (group III) and 9 normal controls. Stimulated salivary clearances of pertechnetate of normal controls, group II and group III were in normal range (over 16.5 ml/min) and that of patients with $Sj\"{o}gren's$ syndrome was significantly reduced (11.1 ml/min).

• Journal of Chest Surgery
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• 제47권6호
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• pp.536-540
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• 2014

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often misdiagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome.

• Journal of Korean Biological Nursing Science
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• 제8권2호
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• pp.41-59
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• 2006

Chronic liver diseases and hepatic cancer have been reported as 10% of cause of death in Koreans. Regardless of various causes, chronic liver disease accompanies commonly hepatic fibrosis. But still the mechanism of hepatic fibrosis remains poorly understood. Using the dimethylnitrosamine(DMN)-induced hepatic fibrosis rat model, We performed to evaluate the possible therapeutic effect of RIP(extracts of Phellodendron amurense and Patrinia scabiosaefolia) and to investigate the changes in referential connective tissue proteins($TGF-{\beta}_1$, ${\alpha}$-smooth muscle actin, and vimentin) as a marker of fibrogenesis. For these purposes, liver tissues were stained with H & E, and Azan staining for estimation of developing fibrosis. In the DMN-treated rat liver tissue, fibrosis were developed forming incomplete septal fibrosis. Whereas, in the RIP-treated rat liver tissues, the fibrosis were decreased recovering to normal morphology. The expressions of $TGF-{\beta}_1$, ${\alpha}$-smooth muscle actin($\alpha-SMA$), and vimetin were increased in the DMN-treated rat liver tissues, but decreased in the various areas of RIP-treated rat liver tissues. According to these results, RIP could be a possible therapeutic agent to reduce hepatic fibrosis, and the $TGF-{\beta}_1$, ${\alpha}$-SMA, and vimentin could be possible indicative markers of hepatic fibrosis development and recovery.