• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.752-759
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• 1995

Background: Bronchial asthma is characterized by noctunal dyspnea, cough and wheezing because of airway hyperresponsiveness to nonspecific stimuli. These symptoms and signs are also observed in patients with congestive heart failure. Therefore, this is so called "cardiac asthma". There are lots of experimental and clinical datas to suggest that airway dysfunctions occur in acute and chronic congestive heart failure. However, it is still controversial whether bronchial hyperresponsiveness is present in patients with congestive heart failure. To assess whether bronchial hyperresponsiveness is present in patients with congestive heart failure and to demonstrate the relationship between bronchial responsiveness and vascular pressure, we performed methacholine provocation test in 11 patients with mitral valvular heart disease. Methods: All patients were in the New York Heart Association functional class II and treated continuously with digoxin and/or dichlozid and/or angiotensin converting enzyme inhibitor except one patient. All patients were undergone right and left side heart catheterization for hemodynamic measurements. A 20 percent fall of peak expiratory flow rate were considered as positive response to methacholine provocation test. Results: 1) Only one patient who has normal pulmonary artery pressure, pulmonary capillary wedge pressure, cardiac index was positive in methacholine provocation test. 2) Their mean pulmonary artery pressure, pulmonary capillary wedge pressure were $21.72{\pm}9.70mmHg$, $15.45{\pm}8.69mmHg$ respectively which were significantly higher. Conclusion: It is speculated that in stable congestive heart failure patients, bronchial responsiveness as assessed by methacholine provocation test may not be increased.

• Pediatric Infection and Vaccine
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• v.4 no.2
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• pp.210-217
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• 1997

Purpose: To prevent residual physical disability and chronic infection, prompt diagnosis and adequate treatment are important in the skeletal infections in children. Although radioisotope scanning is knwon as the method of choice for early diagnosis of bone infection, we conducted a study on twenty nine children who had skeletal infections to reevaluate the most appropriate way in diagnosis and management. Methods: A retrospective study was conducted on twenty nine children, who were admitted to the departments of Pediatrics and Orthopedic Surgery and who had acute osteomyelitis or septic arthritis, through review of medical records, radiologic & radioisotope study results. Their diagnoses were confirmed by bacteriologic cultures on the aspirated specimens from suspected bony lesions. Results: 1) Among twenty nine patients, there were 6 infants including 5 newborn infants, and 23 children were aged between 1 and 15 years. Male to female ratio was 1.4 to 1. 2) Point tenderness was noted in all cases, and the common physical signs were swelling, limitation of motion, fever and local heat in the order of frequency. 3) Fifty two percents of the patients were diagnosed within a week after onset of symptoms and all cases were within 15 days. 4) Leukocytosis was noted in only 58.6% of cases but erythrocyte sedimentation rate was increased in all cases except only one case. Staphylococcus aureus was revealed as the most common etiologic agent. 5) Radioisotope scans showed hot uptake in five of six cases(83.3%) who had no abnormal finding on plain skeletal radiolograms. Conclusions: Although radioisotope scan and MRI are helpful in early diagnosis before radiologic finding was detected on plain X-ray film, the antimicrobial therapy can be started after bacteriologic study of the aspirated specimens from the suspected skeletal lesions if skeletal infection is highly suspected clinically.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.533-538
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• 2006

Purpose : The headache, one of the symptoms of meningitis, is related to abrupt elevation of intracranial pressure(ICP) or stimulation of intracranial nociceptive structure. However, in cases of mild elevation of ICP or normal findings of cerebrospinal fluid(CSF) analysis, patients sometimes complain of headaches. Therefore, other pathways may contribute to the occurrence of headaches in aseptic meningitis or meningismus. We intend to investigate the role of substance P(SP) and calcitonin gene-related peptide(CGRP) in aseptic meningitis or meningismus. Methods : We measured leukocyte count, the concentration of protein and glucose in CSF and ICP of patients with meningeal irritation sign. We also measured SP and CGRP levels by using immunoassay. We analyzed the relationship between the presence of headache and the value of SP and CGRP. Results : The concentrations of CGRP($18.8{\pm}10.5ng/mL$) in CSF and ICP($14.8{\pm}4.5cmH_2O$) in aseptic meningitis group were significantly higher than in those($14.1{\pm}7.4ng/mL$ and $12.0{\pm}5.1cmH_2O$, respectively) of the meningismus group(P<0.05). There was no significant difference in the SP levels between the two groups. In the aseptic meningitis group, the concentrations of SP and CGRP were significantly higher in the normal ICP group than in the elevated ICP group(P<0.05). Conclusion : Headaches in children with aseptic meningitis or meningismus is considered to be related to the elevation of the CSF levels of SP and CGRP.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1073-1079
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• 2003

Purpose : Recently there has been a decrease in ventilator care rate and duration of very low birth weight infants(VLBWI) in Fatima Hospital. The aims of this study were to survey the frequency and duration of ventilation in VLBWI and to develop a non-invasive neonatal intensive care unit (NICU) policy. Methods : We performed a retrospective study of 284 newborn of infants less than 1,500 gm admitted to NICU and discharged from January 1998 to December 2001. Patients were intubated or applied continuous positive airway pressure(CPAP) via nasal prong immediately after presenting signs of respiratory distress. We analyzed epidemiologic data to study the changes in ventilator care rate, duration and outcome of ventilator care groups. Results : Of 284 newborn infants, 146 required invasive management, such as endotracheal intubation and assisted ventilation. The characteristics, the severity of clinical symptoms and laboratory findings in ventilator care groups at birth showed no significant differences. The annual proportion of infants requiring assisted ventilation decreased according to increasing gestational age. The median duration of ventilation decreased markedly from 6.0 days in 1998 to 2.7 days in 2001. Final complications and outcomes in ventilator care groups showed no significant differences. Conclusion : Our study shows a significant reduction in the invasiveness of the treatment of VLBW infants, which was not associated with an increased mortality or morbidity. A non-invasive strategy for the VLBW infant with minimal to moderate respiratory distress after birth in NICU is better than immediate invasive management. Non-invasive nasal CPAP is a simpler and safer method than invasive assisted ventilation.

• Tuberculosis and Respiratory Diseases
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• v.53 no.2
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• pp.173-182
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• 2002

Background : Nontuberculous mycobacteria (NTM) have usually been considered to be contaminants of colonizers when isolated from respiratory specimens in Korea, where there is a high prevalence of tuberculosis and a low rate of HIV infections. Therefore, there has been few studies on the clinical significance of NTM species in immunocompetent patients were investigated. Methods : Thirty-five NTM isolates, for which species identification was requested by the treating physicians during 1999 at the Asan Medical Center, were retrospectively analyzed. They were identified to the species level by mycolic acid analysis using high-performance liquid chromatography. The medical records of the patients with the NTM isolates were reviewed to identify those patients who met the American Thoracic Society (ATS)'s criteria for mycobacterial pulmonary infection. Their antimicrobial susceptibility data were compared with the clinical outcomes. Results : The NTM were identified as M. intracellulare (6 isolates), M. avium (5), M. abscessus (5), M. gordonae (5), M. terrae complex (4), M. szulgai (2), M. kansasii (2), M. fortuitum (2), M. peregrinum (1), M. mucogenicum (1), M. celatum (1), and M. chelonae (1). All 35 patients showed clinical symptoms and signs of chronic lung disease, but none had a HIV infections; 16 (45.7%) patients were found to be compatible with a NTM pulmonary infection according to the ATS criteria, 5 and 4 cases were affected with M. intracellulare and M. abscessus, respectively; 8 patients had a history of pulmonary tuberculosis. 13 patients received antimycobacterial therapy for an average of 21 months and 9 patients were treated with second-line drugs. Only 4 patients had improved radiologically. Conclusion : A NTM should be considered a potential pathogen of pulmonary infections in immunocompetent patients with chronic pulmonary diseases. Most NTM infections were left untreated for a prolonged period and showed a poor outcome as a result, M. intracellulare and M. abscessus were the two most frequent causes of NTM pulmonary infections in this study. Species identification and antimycobacterial susceptibility tests based on the species are needed for the optimum management of a NTM pulmonary infection in patients.

• Journal of Korean Orthopaedic Sports Medicine
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• v.1 no.1
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• pp.71-74
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• 2002

Purpose : To evaluate the clinical and radiological characteristics of osteochondral ridges of talus and ankle. Materials and Methods : We have analyzed their clinical symptoms and signs, radiologic and CT findings and post-operative results in 17 ankle joints of 14 patients (bilateral in 3), followed them for average 13 months after surgical excision. Results : No definite trauma, but mostly in male after middle age. Their chief complaints are pain on ankle, especially in dorsiflexion or squatting position, and symptom durations are very long, more than average 15 months. Definite diagnosis was made by lateral radiograms of ankle joint. Osteochondral ridges are common in talar neck (10 cases), tibia (4 cases) and both side (3 cases). After excision of osteophytes, all patients gained normal ankle without pain and any limited motion. Conclusions : Anterior impingement syndromes are common in middle aged male, but no definite correlation with sports. Plantar and dorsiflexed lateral radiographs are helpful in definite diagnosis for impingement, and surgical excision is best for treatment.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.2
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• pp.158-165
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• 2002

Purpose: We designed this retrospective study to establish the incidence of diagnosic delay in children diagnosed with acute appendicitis and to identify associated factors with delayed diagnosis and its impact on the clinical course. Methods: All cases of children under 15 years of age who underwent appendectomy from 1996 to 2001 at Gangneung Asan Hospital were reviewed. We reviewed signs and symptoms, type of health professional first contacted, the advice given by the health professional and a history of appendicitis in first degree relatives. Diagnostic period is the time elapsed between first complaints and definitive diagnosis. Delay was defined as diagnostic period exceeded the 48 hours. Postoperative course and complications were also reviewed. Results: Incidence of diagnostic delay differed by whether diarrhea and fecalith on X-ray were present. Also children whose parents were advised to observe them at home were more likely to have a diagnostic delay. In almost half of the cases in delayed group, initial diagnosis was not acute appendicitis but gastroenteritis. The perforation rate in non-delayed group was 22%, whereas 87% in delayed group. The delayed group showed a higher number of postoperative complication and a longer hospitalization period. Conclusions: Diarrhea with abdominal pain and fever in children should not be dismissed as gastroenteritis, respiratory infections or other common disorders. Our study suggests that physicians have a responsibility to prevent diagnostic delay and resultant perforation of acute appendicitis in children by having a high index of suspicion about acute appendicitis.

• Pediatric Infection and Vaccine
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• v.4 no.1
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• pp.140-149
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• 1997

Purpose : Kawasaki Disease(KD) is a febrile disease with acute multisystemic vasculitis which is seen commonly in early childhood. The cause and etiologic agents are still unknown to identify using ordinary bacterial and viral culture, but the clinical labaratory studies suggest that KD is one of autoimmune disorder caused by infectious agents, but that is not proved yet. The study was performed to investigate the IgG subclasses in acute stage of KB before treatment of IVIG(Intravenous immunoglobulin). Method : The 35 cases in acute stage of KD before treatment of IVIG who were hospitalized from jan. 1995 to dec. 1996. The obtained sera were measured level of total IgG, IgM, IgA, IgE and IgG subclasses IgGl, IgG2, IgG3, IgG4 by using EIA and SRID method. Results : 1) The sex ratio is male to female is 1.5: 1.0, and male is prone to infected. 2) Total IgG, IgM, IgA and IgE level is normal range with age adjusted, but few cases are shown slight high level of total IgG compare to normal range of age adjusted. 3) acute phage reactants such as CRP, C3, ESR are all increased in acute stage of cases. 4) IgG subclasses IgGl, IgG2, IgG3 are shown normal range of age adjusted, but remarkably low level of IgG4 in all of cases. Conclusions : The low level of IgG4 is able to increasing the incidence of KD, and may use early diagnostic tools combine with other clinical symptoms and signs. But the resulsts of reported studies are different to each other, so it needs more times and cases to get final evaluation of changes of serum immnunoglobulin levels correlate to increase the incidence of high risk group of KD patients.