Journal of The Korean Society of Inherited Metabolic disease
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v.14
no.2
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pp.135-141
/
2014
Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.
Medical nutrition therapy (MNT) is considered a keystone of medical treatment of chronic diseases. However, only few studies have evaluated medical and economical outcome of MNT. The study was performed on the patient with type 2 diabetes mellitus to evaluate the effect of clinical and cost-effective outcomes of MNT. Subjects from two general hospitals were randomly assigned to two different groups; One receiving basic nutritional education (BE) (n = 35), and the other receiving intensive nutritional education (IE) (n = 32) for a 6-month clinical trial. The group which received BE had a single visit with a dietitian, while the other group which received IE had an initial visit with a dietitian addition to two visits during the first 4 weeks of the study periods. Anthropometric parameters, blood components, and dietary intake were measures at the beginning of study period and after 6 month. Cost-effective analysis included direct labor costs, educational materials and medication cost difference during 6 months. After 6 month, subjects from IE group showed significant reduction of body weight (p <0.05) and systolic blood pressure (p <0.05), whereas BE group did not show any significant changes. Result from biochemical indices showed glycated hemoglobin concentration was significantly reduced by 0.7% (p <0.05) only in the IE group. The ratio of energy intake to prescribed energy intake decreased significantly in both groups (p <0.05). Mean time taken for a dietitian to educate the subject was 67.9 ${\pm}$ 9.3 min/person for BE group, while 96.4 ${\pm}$ 12.2 min/person for IE group. Mean number of educational materials was 1.9 ${\pm}$ 0.7/person for BE group and 2.5 ${\pm}$ 0.7/person for IE group. Change in glycated hemoglobin level along the 6 month period of study can be achieved with an investment of \88,510/% by implementing BE and \53,691/% by implementing IE. Considering the net cost-effect of blood glucose control and HbA Ic, IE which provides MNT by dietitian had a cost efficiency advantage than that of BE. According to this study, MNT provided by dietitian had a significant improvements in medical and clinical outcomes compared to that of BE intervention. Therefore, MNT protocol should be performed by systemic intensive nutrition care by dietitian in clinical setting to achieve good therapeutic results of DM with lower cost.
Kim, Yeon-Jae;Park, Jae-Yong;Won, Jun-Hee;Kim, Chang-Ho;Kang, Duk-Sik;Jung, Tae-Hoon
Tuberculosis and Respiratory Diseases
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v.46
no.4
/
pp.489-499
/
1999
Background: The patient with bronchiectasis may have obstructive ventilatory impairment combined with mild restrictive ventilatory impairment due to fibrosis of surrounding lung parenchyme and pleural adhesions caused by chronic recurrent pulmonary infections. Since hyperinflation or emphysematous change can be occured in bronchiectasis, pulmonary functions such as lung volumes and diffusing capacity may also vary with associated emphysema. Methods: For the evaluation of lung volumes and diffusing capacity in bronchiectasis with respect to the anatomic types and severity of bronchiectasis, a total of 40 cases comprising 24 cases of tubular, and 16 cystic type of bronchiectasis were analyzed retrospectively. Correlation between lung functions and extent of bronchiectasis or associated emphysema detected in HRCT were also evaluated. Results: Vital capacity(VC) tended to decrease in cystic type than in tubular type. As the severity of bronchiectasis became serious, the VC were significantly reduced, whereas the total lung capacity(TLC), residual volume(RV) and its ratio to the total lung capacity(RV/TLC) had no significant difference. Lung clearance index(LCI) was significantly increased in cystic type than in tubular type, whereas the slope of phase III in single breath nitrogen curve($\triangle$N2/L) was not significantly changed regard to the type and severity of bronchiectasis. DLCO and DLCO/VA reflecting diffusing capacity were significantly decreased in cystic type and also as the severity of bronchiectasis became serious. The correlation coefficient of VC, DLCO and LCI with the extent of bronchiectasis were -0.322, -0.339 and 0.487, respectively, whereas other parameters were not significantly correlated with the extent of bronchiectasis. VC and DLCO correlated negatively with the extent of emphysema while RV, RV/TLC, LCI and $\triangle$N2/L correlated positively. Conclusion: These findings suggest that the reduction of VC and diffusing capacity or uneven distribution of inspired gas in bronchiectasis are related to both the extent of bronchiectasis and associated emphysema while increased residual volume be related to the extent of associated emphysema alone.
The Aspergillus species produces metabolic products that play a significant role in the destructive processes in the lung. We experienced a case of chronic necrotizing pulmonary aspergillosis caused by an Aspergillus niger infection, which contained numerous calcium oxalate crystals in the necrotic lung tissue. A 46-year-old man, who had a history of pulmonary tuberculosis, presented with high fever, intermittent hemoptysis and pulmonary infiltrations with a cavity indicated by the chest radiograph. Despite being treated with several antibiotics and anti-tuberculosis regimens, the high fever continued. The sputum cultures yielded A. niger repeatedly, and intravenous amphotericin B was then introduced. The pathological specimen obtained by a transbronchial lung biopsy revealed numerous calcium oxalate crystals in a background of acute inflammatory exudates with no identification of the organism. Intravenous amphotericin B was continued at a total dose of 1600 mg, and at that time he was afebrile, although the intermittent hemoptysis continued. On the $63^{rd}$ hospital day, a massive hemoptysis (about 800 mL) developed, which could not be controlled despite embolizing the left bronchial artery. He died of respiratory failure the next day. It is believed that the oxalic acid produced by A. niger was the main cause of the patient's pulmonary injury and the ensuing massive hemoptysis.
Seo, Hye-Yeon;Jeon, Hyun-Sun;Park, Su-Kyung;Park, Ki-Chang;Chung, Won-Gyun;Mun, So-Jung
Journal of dental hygiene science
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v.13
no.4
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pp.493-500
/
2013
The study aims to determine the status of oral health of mental illness patients and establish the preliminary data. The examinations and questionnaire survey were done 92 psychiatric patients to measure sociodemographic characteristics, decayed, missing and filled teeth (DMFT) index, patient hygiene performance (PHP) index, community periodontal index of treatment need (CPITN). Result of the missing teeth index in the state of oral health was higher in the hospital group (6.42) while the filled teeth index was higher in the center group (4.78). In the DMFT index, mental illness patients were higher than the national sample. The oral health status of medical aid recipients was poorer as the subjects were older and less educated (p<0.05). The PHP index was 3.41, close to the bad oral hygiene state. The hospital group (81.7%) required higher need for periodontal treatment. The periodontal health state was much poorer especially when the subject was in the age of 40's and 60's, received less education, and had no family (p<0.05). $CPITN_3$ was higher in the hospital group (13.3%) than the national sample (5.7%). The mental illness patients were socially vulnerable, therefore oral health care program should be needed and age, education level, health insurance type, presence of family and other factors needs to be considered in this approach.
Kim, Byeong-Soo;Ahn, Yong-Woo;Ko, Myung-Yun;Park, June-Sang
Journal of Oral Medicine and Pain
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v.30
no.1
/
pp.57-67
/
2005
The aim of this study was to evaluate bone scan(SUR) and SPECT(hot spot) in patients with TMJ osteoarthritis. 99mTc-MDP bone scan and SPECT were done in 27 patients, total 54 temporomandibular joints were examined with clinical examination, plain radiography. 42 TMJs were osteoarthritis and 12 TMJs were normal case, clinically diagnosed. We compared osteoarthritis group and control group of bone scan(SUR) and SPECT(hot spot). thus we compared before and after treatment of bone scan(SUR) and bone SPECT(hot spot) according to history, contributing factor, symptom degree, treatment, treatment period. The obtained results were as follows. 1. Bone scan(SUR) and SPECT(hot spot) activity of osteoarthritis group were higher than control group(P<0.05, P<0.01). 2. Bone scan(SUR) and SPECT(hot spot) activity were decreased after treatment at TMJ with osteoarthritis(P<0.01). 3. Bone scan(SUR) and SPECT(hot spot) activity were decreased at treatment group with splint(P<0.01, P<0.05). 4. Bone scan(SUR) and SPECT(hot spot) activity were decreased at Chronic group(P<0.01, P<0.05). 5. Bone scan(SUR) and SPECT(hot spot) activity were decreased at low noise NAS(<6) group(P<0.01,P<0.05). 6. Bone scan(SUR) and SPECT(hot spot) activity were decreased at TMD patient with parafunctional habit and without trauma history, psychosocial factor. 7. Bone scan(SUR) and SPECT(hot spot) activity were higher at before treatment required more treatment period.
Burning mouth syndrome(BMS) is defined as chronic, painful burning sensation in the oral mucosa. Treatments for BMS include medication and psychiatric interventions. Capsaicin, alpha-lipoic acid, and topical and systemic clonazepam showed more effective in reducing the symptoms of BMS in the previous studies. The purpose of this study is to evaluate of the therapeutic efficacy of systemic clonazepam in BMS and to elucidate the relationships between such a efficacy and various clinical features, including age, pain intensity, pain duration, previous dental history and condition of oral mucosa. A retrospective clinical records audit was performed of patients diagnosed with BMS between January 2011 and August 2012. Patients were prescribed 0.5 mg clonazepam two times daily. Pain was assessed by patients on an 11-point numeric rating scale (NRS; 0 to 10) before and 1-2 weeks after systemic administration of clonazepam. The efficacy of clonazepam was evaluated in terms of patient's age, initial pain intensity, pain duration, presence or absence of precipitating event, condition of the tongue, presence or absence of denture. A total of 50 patients (46 women, 4 men) were included in this study. The patients were divided into two or three groups according to above clinical features. The amount of mean NRS reduction in patients with severe initial pain was $3.33{\pm}2.74$, whereas that in patients with mild initial pain was $1.64{\pm}1.54$. The amount of mean NRS reduction in oldest patients was $3.53{\pm}1.94$ (${\geq}$70yrs), and those in another younger patients were $2.88{\pm}1.80$(< 60yrs) and $1.54{\pm}2.86$(60yrs ${\leq}$ age < 70yrs), respectively. It was concluded that the older patients and the patients with higher intensity of initial pain tend to show better efficacy of clonazepam. However, There were no statistically significant differences according to pain duration, presence or absence of precipitating events, tongue fissuring, and wearing dentures.
Pseudomembranous colitis, although uncommon, is an important complication of antibiotics that is related to a variety of deleterious effects on the gastrointestinal tract. Rifampicin is one of the 1st line agents in the treatment of tuberculosis and a large number of patients are exposed to its potential adverse effects. We report upon a patient that had diarrhea due to pseudomembranous colitis after receiving antitubeculous medication, and which was probably caused by rifampicin. A 77-year-old man was admitted with diarrhea of three weeks duration. One month previously, he suffered from left pleuritic chest pain and left pleural effusion was noticed at chest X-ray. One week prior to the onset of diarrhea, he was started on empirically isoniazid, rifampicin, ethambutol and pyrazynamide as antituberculous medication. On admission, he complained of diarrhea, left pleuritic chest pain, dyspnea and sputum. On physical examination, breathing sound was decreased in the left lower lung field and bowel sound increased. Pleural biopsy revealed chronic granulomatous inflammation, which was compatible with tuberculosis, Sigmoidoscopy showed whitish to yellowish pseudomembrane with intervening normal mucosa, and his stool was positive for C.difficle toxin. He was diagnosed as pseudomembranous colitis and treated with oral metronidazole and vancomycin. The diarrhea did not recur after reinstitution of the anti-tuberculous medication without rifampicin inpatients with severe diarrhea receiving anti-tuberculous medication, rifampicin induced pseudomembranous colitis should be excluded.
Background: In the majority of cases, sternal instability and wound infection concomitantly present after a cardiac operation following conventional median sternotomy, and these complications have a major influence on the postoperative course. The aim of this study is to compare the results of the different sternal wiring techniques of sternal infection. Material and Method: Between April 2004 and December 2008, 157 adult patients underwent cardiac in group A, whereas 71 patients who had undergone modified Robicsek sternal wiring were included in group B. The incidences of sternal wound complications in the two groups were assessed. Result: The mean age of the group B patients was older than that of the group A patients ($61{\pm}10$ years vs $57{\pm}13$ years). The incidence of preoperative left ventricular dysfunction (ejection fraction <30%), chronic obstructive pulmonary disease, renal failure requiring dialysis and diabetes mellitus were significantly higher in Group B, whereas the other perioperative risk factors for infection were not significantly different between the two groups. Two patients in group A experienced superficial wound infection, whereas 4 patients in group B displayed superficial wound infection, but the difference was not statistically significant (p=0.255). Yet poststernotomy deep sternal wound infection appeared in 6 patients of group A, whereas none of the patients in group B displayed this malady. Conclusion: The modified Robicsek sternal wiring technique showed greater sternal stability even for the patient with a high risk for infection, and the technique caused a lower incidence of deep sternal wound infection.
Puroose: To present preliminary results of intensity-modulated radiotherapy (IMRT) using the simultaneous modulated accelerated radiation therapy (SMART) boost technique in patients with nasopharyngeal carcinoma (NPC). Materials and Methods: Twenty patients who underwent IMRT for non-metastatic NPC at the Asan Medical Center between September 2001 and December 2003 were prospectively evaluated. IMRT was delivered using the 'step and shoot' SMART technique at prescribed doses of 72 Gy (2.4 Gy/day) to the gross tumor volume (GTV), 60 Gy (2 Gy/day) to the clinical target volume (CTV) and metastatic nodal station, and 46 Gy (2 Gy/day) to the clinically negative neck region. Eighteen patients also received concurrent chemotherapy using cisplatin once per week. Results: The median follow-up period was 27 months. Nineteen patients completed the treatment without interruption; the remaining patient interrupted treatment for 2 weeks owing to severe pharyngitis and malnutrition. Five patients (25%) had RTOG grade 3 mucositis, whereas nine (45%) had grade 3 pharyngitis. Seven patients (35%) lost more than 10% of their pretreatment weight, whereas 11 (55%) required intravenous fluids and/or tube feeding. There was no grade 3 or 4 chronic xerostomia. All patients showed complete response. Two patients had distant metastases and loco-regional recurrence, respectively. Conclusion: IMRT using the SMART boost technique allows parotid sparing, as shown clinically and by dosimetry, and may also be more effective biologically. A larger population of patients and a longer follow-up period are needed to evaluate ultimate tumor control and late toxicity.
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