Journal of The Korean Society of Inherited Metabolic disease
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v.16
no.1
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pp.34-41
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2016
Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.
Many previously described nuclear medicine procedures to assess glomerular filtration rate have some problems because numerous blood sample is to be taken and they don't measure each separate renal function. Gates described isotopic method for the measurement of global and unilateral GFR based on the fractional renal uptake of $^{99m}Tc$-DTPA 2 to 3 minutes after its intravenous injection. We evaluated GFR using $^{99m}Tc$-DTPA in 57 people according to Gates method and compared with creatinine clearance. A good correlation was observed between creatinine clearance and GFR calculated by Gates' formula with an r value of 0.9(P<0.05). And also the relationship between parameters of $^{99m}Tc$-DTPA renal scan images and GFR was taken. They were significantly correlated with GFR calculated by Gates' formula : r value 0.66 between relative intensity of peak renal to peak aortic activity(pK/pA) and GFR, -0.42 between time between aortic and kidney peak(A-K) and GFR and -0.48 between parenchymal renal activity at 25 min compared to peak kidney activity(25K/pK) and GFR. In conclusion, the determination of GFR according to the Gates' formula shows good and reproducible of GFR with rapidity and simplicity. And the parameters from the renal scan images can use to estimate the renal function.
The 20-minute $^{99m}Tc-pertechnetate$ uptake became readily available for routine use and it replaced $^{131}I$ for thyroid imaging. However measuring thyroid uptake during a 5-minute minimizes pertechnetate uptake by the salivary glands and presence of contaminated saliva from those glands in to the pharynx and esophagus. A study was carried out to determine the suitability of the utility of a S-minute and 20-minute interval from administration of $^{99m}Tc-pertechnetate$ to imaging and uptake measurement as a replacement for the 24 hour standard originally established with $^{131}I$, and to evaluate the relationship between 5-minute $^{99m}Tc-pertechnetate$ uptake and other thyroid functions. A 5-minute and 20-minute uptake of $^{99m}Tc-pertechnetate$ were measured in 70 patients with thyroid disease at Yeungnam University Hospital from March 1, 1991 to Feb. 29, 1992. The results were as follows. 1) The 5-minute $^{99m}Tc-pertechnetate$ uptake in Graves' disease, Hashimoto's thyroiditis, simple goiter, non toxic nodular goiter, subacute thyroiditis and euthyroid were 18.2%, 14.6%, 2.8%, 3.2%, 1.2% and 1.1%, respectively. There was a significant difference between the mean of the euthyroid group and the mean of the Graves' disease. So differenciation between them can be easily made. 2) The 5 minute $^{99m}Tc-pertechnetate$ thyroid uptake was well correlated with 24 hour $^{131}I$ thyroid uptake (r=0.75, p<0.001). These data provided an equation for estimating the 24 hour uptake of iodide given the 5 minute pertechnetate uptake: Estimated 24-hour $^{131}I$ thyroid Uptake= 7.188*ln (5 minute $^{99m}Tc-pertechnetate$ uptake)+16.94 3) The 20-minute $^{99m}Tc-pertechnetate$ thyroid uptake was well correlated with 24-hour $^{131}I$ uptake (r=0.72, p<0.001) and 5-minute $^{99m}Tc-pertechnetate$ thyroid uptake (r=0.96, p<0.001). 4) In the Graves' disease, The 5-minute $^{99m}Tc-pertechnetate$ thyroid uptake was well correlated with serum $T_3-resin$ uptake (r=0.46, p<0.01), serum total $T_3$ (r=0.55, p<0.05), serum total $T_4$ (r=0.46, p<0.05). These results suggest that 5-minute ${99m}Tc-pertechnetate$ thyroid uptake has been found at least as useful as 24-hour $^{131}I$ uptake for diagnostic confirmation at our hospital, the logistical advantages of completing the diagnosis. The exam in 5-minutes led us to abandon the 24-hour study in the majority of patients, but the 24-hour $^{131}I$ uptake is still obtained in patients with planned or potential radioiodine therapy.
We did Tc-99m sestamibi myocardial perfusion SPECT in 36 patients with acute myocardial infarction when they arrived at the emergency room. And we compared myocardial perfusion images with ECG findings. Then we obtained the follows. The myocardial infarction by the obstruction of left coronary descending artery and right coronary artery showed a good concordance in the diagnosis and infarction site between myocardial perfusion images and ECG findings. The 7 patients with myocardial infarction by a left circumflex coronary artery showed a perfusion defect in the lateral wall in myocardial perfusion SPECT images. But 4 patients of them showed ST segment elevation, 2 patients showed ST depression and 1 patient showed normal ECG findings. The diagnostic sensitivity of Tc-99m sestamibi myocardial perfusion SPECT was 100% by a qualified analysis. The perfusion defect site in the myocardial perfusion SPECT were corresponded with the infarct related coronary artery in 31 patients which was diagnosed by coronary angiograpy. The size of perfusion defect in the po1ar map was $31{\pm}18%(M{\pm}SD)$, in the myocardial infarction with left anterior descending coronary arery obstruction, $31{\pm}13% (M{\pm}SD)$ in the myocardial infarction with right coronary artery obstruction and $25{\pm}5.9%(M{\pm}SD)$ in the myocardial infarction with left circumflex coronary artery obstruction. We concluded that emergency myocardial perfusion SPECT images are useful in the diagnose of myocardial infarction and it's very useful when we are difficult to diagnose with ECG like as lateral wall infarction or left bundle branch block.
Journal of The Korean Society of Inherited Metabolic disease
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v.14
no.2
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pp.135-141
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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.
Seok, Hoa Jun;Yoo, Jae Sang;Ku, Ja Ryong;Yoon, Ki Hyeon;Jo, Ju Heum;Jang, Du Hyon;Jung, Yang Sam;Kim, Jong Hoon;Kim, Byeong Chul;Roh, Jong Seong;Lee, Hye Rim;Lee, Hyunghee;Yoon, Michung;Shin, Soon Shik
Herbal Formula Science
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v.22
no.2
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pp.105-120
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2014
Objectives : This study was investigated the improvement effects of Gangjihwan (DF) and combination of Gangjihwan and Gamisochehwan (GSH) on obesity in a high fat diet-fed obese mouse model. Methods : Eight-week-old C57BL/6N mice were divided into four groups: a normal lean group given a standard diet, an obese control group given a high fat diet, and DF and DF+GSH groups given a high fat diet with DF (40 mg/kg), and DF+GSH (80 mg/kg), respectively. After 8 weeks of treatment, body weight gain, feeding efficiency ratio, blood lipid markers, fat weight and histology were examined. Results : 1. Body weight gain and fat mass were significantly decreased in DF and DF+GSH groups compared with control. The extent of decreases was eminent in DF+GSH group. 2. Feeding efficiency ratio and circulating concentration of leptin were decreased in DF and DF+GSH groups compared with control. These decreases were significant in DF+GSH group. 3. Consistent with their effects on body weight gain and fat mass, circulating concentrations of triglyceride, glucose and insulin were decreased in DF and DF+GSH groups compared with control. 4. The size of adipocytes was decreased by DF and DF+GSH compared with control, whereas the adipocyte number per unit area was increased by them, suggesting that DF and DF+GSH decreased the number of large adipocytes. 5. Consistent with their effects on body weight gain, liver fibrosis was also improved in DF and DF+GSH groups compared with control. Conclusions : In conclusion, these results suggest that DF and DF+GSH groups decrease feeding efficiency ratio, plasma leptin concentration, blood anti-obesity biomarkers and fat mass, improves body weight gain contributing to the inhibition of liver fibrosis. In addition, these effects were more effective in DF+GSH combination group than in DF-only group.
Objects : This study was carried out to investigate characteristics of patients who need hypnotics on the night before elective surgery as well as contributing variables for the necessity of hypnotics. Methods : After reviewing the clinical charts of patients who were scheduled to receive surgery by general anesthesia the following day, researchers had semi structural interviews with patients. In addition, Spielberger's State-Trait Anxiety Inventory(SSTAI), Beck Depression Inventory(BDI), Zung's Self-Rating Pain and Distress Scale(ZPDS), and Presleep and Postsleep Questionnaires were administered to patients. A total of 167 patients, who gave reliable information, were divided into two groups based on subjective judgement regarding the necessity for hypnotics on the night before surgery; 29 eligibles for hypnotics and 138 non-eligibles for hypnotics. Demographic and clinical characteristics of patients, some possible factors affecting sleep, psychological characteristics of patients and daytime status and nighttime sleep before surgery were compared between the two groups. In addition, discriminant function analysis was done to find the variables which would best discriminate among patients who differ in terms of necessity for hypnotics on the night before surgery. Results : There was no difference in demographic and clinical characteristics between the two groups; however, the satisfaction level with ward environment was significantly lower in the eligible group for hypnotics than the non-eligible group. Psychologically, the eligible group for hypnotics, compared to the non-eligible group, showed significantly more severe depression, pain, and distress; whereas anxiety level was not different between the two groups. For nighttime sleep before surgery, the eligible group for hypnotics, compared to the non-eligible group, expected poorer sleep before retiring and in fact, reported poorer sleep the following morning. In discriminant function analysis, 'expectation for sleep' and 'pain and distress' were the most potent contributors to discriminate the necessity of hypnotics. Conclusion : For the improvement of the patient's sleep on the night before elective surgery, giving hypnotics and/or analgesics should be determined by patient's opinion about the necessity of the drugs rather than by the therapist's own judgement or any other objective indices.
Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
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.
Purpose: To assess the usefulness of implanted fiducial markers in the setup of hypofractionated radiotherapy for prostate cancer patients by comparing a fiducial marker matched setup with a pelvic bone match. Materials and Methods: Four prostate cancer patients treated with definitive hypofractionated radiotherapy between September 2009 and August 2010 were enrolled in this study. Three gold fiducial markers were implanted into the prostate and through the rectum under ultrasound guidance around a week before radiotherapy. Glycerin enemas were given prior to each radiotherapy planning CT and every radiotherapy session. Hypofractionated radiotherapy was planned for a total dose of 59.5 Gy in daily 3.5 Gy with using the Novalis system. Orthogonal kV X-rays were taken before radiotherapy. Treatment positions were adjusted according to the results from the fusion of the fiducial markers on digitally reconstructed radiographs of a radiotherapy plan with those on orthogonal kV X-rays. When the difference in the coordinates from the fiducial marker fusion was less than 1 mm, the patient position was approved for radiotherapy. A virtual bone matching was carried out at the fiducial marker matched position, and then a setup difference between the fiducial marker matching and bone matching was evaluated. Results: Three patients received a planned 17-fractionated radiotherapy and the rest underwent 16 fractionations. The setup error of the fiducial marker matching was $0.94{\pm}0.62$ mm (range, 0.09 to 3.01 mm; median, 0.81 mm), and the means of the lateral, craniocaudal, and anteroposterior errors were $0.39{\pm}0.34$ mm, $0.46{\pm}0.34$ mm, and $0.57{\pm}0.59$ mm, respectively. The setup error of the pelvic bony matching was $3.15{\pm}2.03$ mm (range, 0.25 to 8.23 mm; median, 2.95 mm), and the error of craniocaudal direction ($2.29{\pm}1.95$ mm) was significantly larger than those of anteroposterior ($1.73{\pm}1.31$ mm) and lateral directions ($0.45{\pm}0.37$ mm), respectively (p<0.05). Incidences of over 3 mm and 5 mm in setup difference among the fractionations were 1.5% and 0% in the fiducial marker matching, respectively, and 49.3% and 17.9% in the pelvic bone matching, respectively. Conclusion: The more precise setup of hypofractionated radiotherapy for prostate cancer patients is feasible with the implanted fiducial marker matching compared with the pelvic bony matching. Therefore, a less marginal expansion of planning target volume produces less radiation exposure to adjacent normal tissues, which could ultimately make hypofractionated radiotherapy safer.
Purpose : The effect of hyperfractionated radiotherapy on locally advanced non-small lung cancer was studied by a retrospective analysis. Materials & Methods : We analyzed sixty one patients of biopsy-confirmed, IIIA and IIIB non-small cell lung cancer. Using the ECOG performance scale, all the patients were scored less than 2. They were treated by curative hyperfractionated radiotherapy alone from Oct. 1992 to Oct. 1995 at the Department of Radiation Oncology. All the patients received 120cGy b.i.d with more than 6 hours interval between each fraction. The total dose of radiation was reached up to 6400-7080 cGy with a mean dose of 6934 cGy. The results were analyzed retrospectively. Results : The overall survival rate was 53 1$\%$ in 1 year, 9.9$\%$ in 2 years with a median survival time (MST) of 13.9 months. The progression free survival (PFS) rate was 37.0$\%$ in 1 year, 8.9$\%$ in 2 years. Twenty two Patients were classified as complete responders to this treatment and their MST was 19.5 months When this was compared with that of partial responders (MST: 11 7months), it was statistically significant (p=0.0003). Twenty nine patients of stage IIIA showed a better overall survival rate (1yr 63.3$\%$, 2yr 16.8$\%$) than IIIB patients (1yr 43.3$\%$, 2yr 3.6$\%$), which was also statistically significant (p=0.003). Patients with adenocarcinoma showed a better survival rate (1yr 64.3$\%$, 2yr 21.4$\%$) than that of squamous cell counterpart (1yr 49.4$\%$, 2yr 7.4$\%$), although this was not significant statistically (p=0.61). Two patients developed fatal radiation-induced pneumonia right after the completion of the treatment which progressed rapidly and they all died within 2 months. One patient developed radiation-induced fibrosis after 13 months. He refused further treatment and died soon after the development of fibrosis. Conclusion : Among locally advanced NSCLC, hyperfractionated radiotherapy was effective on stage IIIA patients by increasing MST with acceptable toxicities. Acute radiation-induced pneumonia should be carefully monitored and must be avoided during or after this treatment.
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