• Tuberculosis and Respiratory Diseases
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• v.79 no.3
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• pp.188-192
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• 2016

Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody-positive antisynthetase syndrome. The present case showed resolution of ARDS after treatment with high-dose corticosteroids. Given that steroids are not greatly beneficial in the treatment of ARDS, it is likely that the improvement of the respiratory symptoms in this patient also resulted from the prompt suppression of the inflammatory systemic response by corticosteroids.

• Journal of Korean Medical Science
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• v.33 no.47
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• pp.300.1-300.17
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• 2018

Parkinson's disease (PD) is the second most common neurodegenerative disorder. Although its major manifestation is motor symptoms, resulting from the loss of dopaminergic neurons in the substantia nigra, psychiatric symptoms, such as depression, anxiety, hallucination, delusion, apathy and anhedonia, impulsive and compulsive behaviors, and cognitive dysfunction, may also manifest in most patients with PD. Given that the quality of life - and the need for institutionalization - is so highly dependent on the psychiatric well-being of patients with PD, psychiatric symptoms are of high clinical significance. We reviewed the prevalence, risk factors, pathophysiology, and treatment of psychiatric symptoms to get a better understanding of PD for improved management.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Journal of Korean Dental Science
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• v.15 no.2
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• pp.162-165
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• 2022

Burkitt lymphoma is a highly aggressive type of hematopoietic malignancy that is comparatively common in children and young people. It is important that Burkitt lymphoma be diagnosed as early as possible for prompt intervention due to its rapidly progressive, high-grade malignant nature. Dentists, especially maxillofacial surgeons, can play a life-saving role in patients with such unknown malignancy as the first clinical or radiological manifestation might occur in the oral region.

• Tuberculosis and Respiratory Diseases
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• v.61 no.6
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• pp.554-561
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• 2006

Background: In AIDS patients, the respiratory tract is one of the most frequently involved site of by an opportunistic infection, and an even common, casual pulmonary infection manifests in a peculiar ways in AIDS patients. In Korea, because of the low prevalence of AIDS, there is insufficient data compared with other Southeast Asian counties. However, considering the sexual behavior of the younger generation, it is expected that it will not be long before AIDS becomes a major public health issue in Korea. This study examined the clinical manifestation of HIV positive people and AIDS patients. The pulmonary manifestion of HIV-positive was evaluated. This study focused on the differences in the clinical manifestation between AIDS patients with pulmonary disease and simple HIV positive people. The characteristics of common pulmonary infections in AIDS patients were also analyzed. Method: The medical records of 28 HIV positive patients who visited the hospital of ChungAng University Hospital from January, 2001 to February, 2006 were analyzed retrospectively. Result: Twenty-seven patients out of 28 HIV positive patients were male and the average age was 40.6(23-65). Patients in their thirties were most commonly affected. Elven patients had pulmonary diseases. Pulmonary tuberculosis (4 cases) and pneumocystis pneumonia (4 cases) were the most common respiratory infection. One patient showed a peculiar type of systemic cryptococcus. which was accompanied by lung and pleural dissemination. The CD4+lymphocyte count of patients with a pulmonary infection was significantly lower in patients with a pulmonary manifestation than those with only a HIV infection ($79.5/mm^3$ vs $400/mm^3$, respectively)(p<.05). Patients with pulmonary disease were in a more severe immunosuppressive state. There were 4 patients with pulmonary tuberculosis, 4 with pneumocystis pneumonia, 4 with secondary syphilis, 2 with primary syphilis, and 2 with HZV infection. The average CD4 lymphocyte counts was $56/mm^3$ in those with pulmonary tuberculosis, $42/mm^3$ in those with pneumocystis pneumonia, and $455/mm^3$ in those with secondary syphilis. Conclusion: This study examined the clinical manifestation of HIV positive patients, particularly AIDS patients with pulmonary disease, A more severe immunosuppressive status was observed in HIV-related pulmonary compared with those with HIV-related extrapulmonary disease, and the frequency of pulmonary tuberculosis in pulmonary disease was higher than expected. Respiratory infection in AIDS manifest in uncommon ways e.g. disseminated cryptococcosis involving the lung and pleura. Evidently, AIDS patients with a respiratory infection have a more severe form of immunosuppression than those with a simple HIV infection. As expected, patients with a pulmonary infection were in a more severe immunosuppressed state than those with a simple HIV infection. Opportunistic infections can show peculiar clinical presentations in AIDS patients.

• Pediatric Infection and Vaccine
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• v.14 no.2
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• pp.136-144
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• 2007

Purpose : Human bocavirus (HBoV) was recently identified world widely in clinical specimens from infants and children with respiratory tract illness, but the role of HBoV in respiratory tract illnesses is unknown. The aim of this study was to investigate the frequency and the clinical manifestation of HBoV in pediatric patients. Methods : We retrospectively investigated 1,777 throat swab obtained between 2005 and 2006 from pediatric in-patients with acute respiratory tract diseases at the Kwang-ju Christian Hospital. The medical records of patients with positive results were reviewed for demographic and clinical data of HBoV infections. Results : HBoV DNA was found in 84 (4.7%) of the 1,777 hospitalized children and the mean age was 19 months. The most common diagnosis were pneumonia (67.8%), bronchiolitis (35.7%). HBoV infections were found year-round, though most occurred in spring and winter months. Conclusion : HBoV is frequently found in hospitalized infants and children with acute respiratory tract diseases in Korea, but an association of HBoV with a distinct respiratory tract manifestation was not apparent. To clarify the clinical significance of HBoV, further evaluation of various age groups and clinical groups is needed.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.85-87
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• 2005

Neonatal lupus(NL) is characterized by typical clinical features and the presence of maternal autoantibodies. The principal serologic markers of NL are anti-Ro/SSA or anti-La/SSB maternal autoantibodies, which are transferred across the placenta and can be detected for the first few months of the affected child. The major clinical manifestations are cardiac disease, notably congenital heart block, and cutaneous lupus lesions. Hepatobiliary disease is relatively rare clinical manifestation of NL. We experienced a case of NL with abnormal liver function test and skin lesion.

• Childhood Kidney Diseases
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• v.20 no.1
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• pp.6-10
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• 2016

Poststreptococcal glomerulonephritis (PSGN) is one of the most recognized diseases in pediatric nephrology. Typical clinical features include rapid onset of gross hematuria, edema, and hypertension, and cases are typically preceded by an episode of group A ${\beta}$-hemolytic streptococcus pharyngitis or pyoderma. The most common presenting symptoms of PSGN are the classic triad of glomerulonephritis: gross hematuria, edema, and hypertension. However, patients with PSGN sometimes present with unusual or atypical clinical symptoms that often lead to delayed diagnosis or misdiagnosis of the disease and increased morbidity. Additionally, the epidemiology of postinfectious glomerulonephritis (PIGN), including PSGN, has changed over the past few decades. This paper reviews atypical clinical manifestations of PSGN and discusses the changing demographics of PIGN with a focus on PSGN.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.15-21
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• 2007

Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.17 no.1
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• pp.49-52
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• 2006

Background and Objectives: Vocal cord granuloma is a exophytic inflammatory mass and caused by gastroesophageal reflux, voice abuse, endotracheal intubation. There has been a controversy in the treatment of vocal cord granuloma. Our aim of study is to know the clinical characteristics and the results of surgical management for vocal cord granuloma. Materials and Methods: We have reviewed and analyzed medical records of 55 patients who were diagnosed and surgically treated as vocal cord granuloma in Asan medical center from 1997 to 2005 retrospectively. Results: 25 cases were intubation granuloma and 30 cases were contact granuloma. In intubation granuloma, the clinical manifestation was hoarseness(70%), foreign body sensation(44%), chronic cough(21%). In contact granuloma, the clinical manifestation was hoarseness(67%), foreign body sensation(60%), throat clearing(21%). The recurrence rate after surgery was 8% in intubation granuloma and 33% in contact granuloma. Mean recurrence time was 4.1months in intubation granuloma and 3.2months in contact granuloma. Conclusion: Although there is no significant difference, recurrence rate after surgery was high in contact granuloma compared to intubation granuloma(p=0.125). Although this study is retrospective, surgical management must be considered in resolving diagnostic doubt, treating airway obstruction, and failure in conservative treatments.