Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
Journal of The Korean Society of Inherited Metabolic disease
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제20권2호
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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.
Dialysis patients are at risk of malnutrition not only because of losses of nutrients during peritoneal dialysis but also because of anorexia that results in inadequate nutrient intakes. The aim of this study was to estimate the nutritional status of 154 patients receiving continuous ambulatory peritoneal dialysis (CAPD), especially focused on protein-energy malnutrition and vitamin and mineral status. The mean age of the subjects was $5.12\;{\pm}\;12.4\;y$ with educational years of $12.3\;{\pm}\;0.4\;y$ for male and $9.6\;{\pm}\;0.4\;y$ for female. The mean duration of dialysis was $22.7\;{\pm}\;21.7\;mo$. The causes of renal failure included diabetes (32.7), chronic glomerulonephritis (15.0%), and hypertension (8.5%). The main complications associated with chronic renal failure were hypertension (86.1%), diabetes (35.4%) and liver disease (9.0%). The mean daily energy intake was $1216.8\;{\pm}\;457.3\;kcal$ and increased to $1509.2\;{\pm}\;457.2\;kcal$ when added with the energy from dextrose in dialysate. The latter was still much lower than estimated energy requirement but energy intake per kg of body weight (28.1 kcal/1 g) was within the range of that recommended for CAPD patients' diet therapy (25 - 30 kcal/kg). The average daily intake of protein was $49.2\;{\pm}\;25.1\;g$ with 37.6% of the patients showing their intakes less than Estimated Average Requirement. The average protein intake per kg of weight was 0.9 g/kg, which is less than that recommended for CAPD patients (1.2-1.5g/kg) with mean serum albumin level $3.2\;{\pm}\;0.5\;g/dl$. The proportion of the patients with dietary calcium intake less than EAR was 90.9%, but when added with supplementary calcium (phosphorus binder), most patients showed their total calcium intake between EAR and UL. Fifty percent of the patients were observed with dietary iron intake less than EAR, however most patients revealed their total iron intake with supplementation above UL. The addition of folic acid with supplementation increased mean total folic intake to $1126.0\;{\pm}\;152.4\;{\mu}g$ and ninety eight percent of the subjects showed their total folic acid intake above UL. The prevalence of anemia was 83.1 % assessed with hemoglobin level, even with high intakes of iron with supplementation. Thirty four percent of the patients showed their fasting blood glucose was not under control $(\geq\;126\;mg/dl)$ even with medication or insulin probably due to dextrose from dialysate. The mean blood lipid levels were within the reference levels of hyperlipidemia, but with 72.1 % of the patients showing lower HDL-C. In conclusion, Fairly large proportion of the patients were observed with protein malnutrition with low intake of protein and serum albumin level. Few patients showed their vitamins and minerals intake less than EAR with supplementation. For iron and folic acid, their intakes were increased to above UL for large proportion of he patients. However, more than eighty percent of the patients were still anemic associated with decreased renal function. The serum blood glucose and lipid level were not under control for some patients with medication. It seems that supplementation and medications that patients are taking should be considered for dietary consulting of CAPD patients.
Journal of the Korea Academia-Industrial cooperation Society
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제14권1호
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pp.301-311
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2013
This study aims to analyze characteristics, health behaviors and health management level related to private health examination recipients in one general hospital. To achieve this, we analyzed 150,501 cases of private health examination data for 11 years from 2001 to 2011 for 20,696 participants in 2011 in a Dae-Jeon general hospital health examination center. The cluster analysis for classify private health examination group is used z-score standardization of K-means clustering method. The logistic regression analysis, decision tree and neural network analysis are used to periodic/non-periodic private health examination classification model. 1,000 people were selected as a customer management business group that has high probability to be non-periodic private health examination patients in new private health examination. According to results of this study, private health examination group was categorized by new, periodic and non-periodic group. New participants in private health examination were more 30~39 years old person than other age groups and more patients suspected of having renal disease. Periodic participants in private health examination were more male participants and more patients suspected of having hyperlipidemia. Non-periodic participants in private health examination were more smoking and sitting person and more patients suspected of having anemia and diabetes mellitus. As a result of decision tree, variables related to non-periodic participants in private health examination were sex, age, residence, exercise, anemia, hyperlipidemia, diabetes mellitus, obesity and liver disease. In particular, 71.4% of non-periodic participants were female, non-anemic, non-exercise, and suspicious obesity person. To operation of customized customer management business for private health examination will contribute to efficiency in health examination center.
Seo, Mi Hyun;Kim, Soung Min;Oh, Jin Sil;Myoung, Hoon;Lee, Jong Ho
Maxillofacial Plastic and Reconstructive Surgery
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제34권5호
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pp.332-336
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2012
Purpose: The third molar extraction is one of the mostly performed procedures in the department of oral and maxillofacial surgery. In most of dental clinic or hospital, the third molar extraction used to be frequently performed in an office-based surgery, and most patients did not have specific medical history with young ages. Medical history taking are dependent on the only way by asking to the patients about their individual conditions. Therefore, as the specialists of the oral and maxillofacial surgery in the field of dentistry, we suggest a new policy that the preoperative lab must be performed routinely before extraction of the third molar. Methods: This study is based on 1,096 patients who have been managed with third molar extractions, from March 2008 to September 2011 by a single surgeon. The preoperative lab, including complete blood count, coagulation panel, chemistry and serology, was performed before any surgical procedures. The results were informed to the patients regardless of their abnormalities, and any abnormalities related to the surgical procedures, such as platelet count and coagulation factors, were checked and corrected safely. Results: Through the preoperative blood test, systemic diseases that the patients had not recognized before, such as anemia, leukopenia, fatty liver and chronic renal disease, were identified. Patients with acute or chronic leukemia, Hepatitis B, and HIV positive, were also detected as a small number. Also, the possibilities of the cross-infection between dentists and patients or between patients and patients, and any other emergency situations can be prevented; as well as the public health condition can be improved, too. The patients were satisfied with low cost preventive blood test and high quality of medical services. Conclusion: Therefore, routine medical lab testing, including history taking are needed before an office-based minor surgery, such as third molar extractions, and these results were suggested as a new policy in the field of dentistry.
Purpose: We compared the clinical manifestations of patients with tsutsugamushi disease between children and adults. Methods: From January 2003 to December 2012, 768 patients diagnosed with tsutsugamushi disease were retrospectively reviewed, and the clinical characteristics, laboratory findings, and complications were compared between children and adults. Results: No patterns of annual increases in the number of patients were noted in both children and adults. The higher incidences occurred in October and November respectively. By gender, male outnumbered female in children, but the opposite trend was seen in adults. By residential area, the urban distribution of children was higher than that of adults. Rashes (P =0.001) and eschar (P =0.004) were more common in children, while myalgia was more common in adults. Children had a high prevalence of anemia (P =0.041), and low incidence rates of thrombocytopenia, abnormal liver and renal function. Children yielded better results in the duration of their hospital stay and the incidence of complications (P <0.001). A comparison of the therapeutic effects of doxycycline and macrolide antibiotics, which was performed only on the children, did not reveal any significant differences. Conclusion: Compared to adults, children had higher incidence rates of male patients and more often suffered from rashes and eschar. Children yielded better results in the laboratory findings and duration of the hospital stay and complications. Therefore, when children are suspected to have tsutsugamushi disease, especially during its peak occurrence period, detailed physical examination and serological test should be performed to ensure a prompt diagnosis, and the use of macrolide antibiotics, which have fewer side effects, is expected to yield the same therapeutic effects.
Turkeli, Mehmet;Aldemir, Mehmet Naci;Cayir, Kerim;Simsek, Melih;Bilici, Mehmet;Tekin, Salim Basol;Yildirim, Nilgun;Bilen, Nurhan;Makas, Ibrahim
Asian Pacific Journal of Cancer Prevention
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제16권3호
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pp.985-989
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2015
Background: Docetaxel, cisplatin, 5-fluorouracil (DCF) given every three weeks is an effective, but palliative regimen and significantly toxic especially in patients who have a low performance score. Here, we aimed to evaluate the efficacy and tolerability of a weekly formulation of DCF in locally advanced and metastatic gastric cancer patients. Materials and Methods: 64 gastric cancer patients (13 locally advanced and 51 metastatic) whose ECOG (Eastern Cooperative Oncology Group) performance status (PS) was 1-2 and who were treated with at least two cycles of weekly DCF protocol as first-line treatment were included retrospectively. The weekly DCF protocol included $25mg/m^2$ docetaxel, $25mg/m^2$ cisplatin, and 24 hours infusion of $750mg/m^2$ 5-fluorouracil, repeated every week. Disease and patient characteristics, prognostic factors, treatment response, grade 3-4 toxicity related to treatment, progression free survival (PFS) and overall survival (OS) were evaluated. Results: Of the patients, 41 were male and 23 were female; the median age was 63 (29-82) years. Forty-one patients were ECOG-1 and 23 were ECOG-2. Of the total, 81.2% received at least three cycles of chemotherapy. Partial response was observed in 28.1% and stabilization in 29.7%. Overall, the disease was controlled in 57.8% whereas progression was noted in 42.2%. The median time to progression was 4 months (95%CI, 2.8-5.2 months) and median overall survival was 12 months (95%CI, 9.2-14.8 months). The evaluation of patients for grade 3-4 toxicity revealed that 10.9% had anemia, 7.8% had thrombocytopenia and 10.9% had neutropenia. Non-hematologic toxicity included renal toxicity (7.8%) and thrombosis (1.6%). Conclusions: In patients with locally advanced or metastatic gastric cancer who were not candidates for DCF administered every-3-weeks, a weekly formulation of DCF demonstrated modest activity with minimal hematologic toxicity, suggesting that weekly DCF is a reasonable treatment option for such patients.
Yang, Eun Mi;Han, Dong Kyun;Baek, Hee Jo;Shin, Myung Geun;Kim, Young Ok;Kook, Hoon;Hwang, Tae Ju
Clinical and Experimental Pediatrics
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제53권3호
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pp.428-431
/
2010
Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other is acquired and associated with anti-ADAMTS-13 autoantibodies. The measurement of ADAMTS-13 activity in plasma, identification of ADAMTS-13 circulating inhibitor, anti-ADAMTS-13 IgG, and ADAMTS-13 gene sequencing are crucial to the diagnosis of TTP. Plasma exchanges are the first-line treatment for acquired TTP, combined with steroids and immunosuppressive drugs. Here, we describe the case of an adolescent patient with TTP, confirmed by decreased level of ADAMTS-13 activity and an increased level of ADAMTS-13 inhibitor, who was successfully treated by plasma exchanges.
A clinical review of 31 cases of multiple myeloma which were diagnosed by criteria of the SWOG between May 1983 and February 1990 at Yeungnam University Hospital was done. The results were as followings : 1. The peak incidence was in 7th decade and male to female ratio was 1.8 : 1. 2. The most common presenting symptom at first diagnosis was bone pain (58%), but fever, dyspnea, dizziness and palpable mass were also noted. 3. The distribution of laboratory findings as following diagnostic criteria of Southwest oncology group(SWOG) : plasmacytoma on tissue biopsy was noted 6 cases, bone marrow plasmacytosis with more than 10% plasma cells was 22 cases, monoclonal globulin spike on serum electrophoresis was 24 cases, lytic bone lesions was observed 22 cases. 4. Initial clinical stages were classified as 2 cases in stage I, 3 cases in stage II, 26 cases in stage III(84%) 5. Immunoelectrophoresis revealed the distribution of IgG 64%, light chain 22%, IgA 10%. Kappa to Lambda ratio of 1.1 : 1. 6. Hematologic & biochemical fingins revealed anemia with <8.5% of hemoglobulin in 42%, hypercalcemia with < 10.6mg% of serum calcium in 22%, azotemia >2.0mg% of serum creatinine in 19%. 7. The multiple punched out lesion of bone x-ray examination were noticed skull(65%), rib(42%), L-spine(35%), pelvis(23%), T-spine(19%). The initial skeletal roentgenographic findings showed osteoporosis, osteolytic lesion and fracture in 55%, only osteolytic lesion in 23%, only osteoporosis in 10%. 8. Complications of multiple myeoloma, such as 10 cases of renal impairment, 8 cases of infection, 16 cases of compression fracture of spine were observed.
Background : Diffuse alveolar hemorrhage (DAH) is rare but often fatal. To determine the clinical manifestations of DAH, its etiology, clinical course and prognosis were studied. Method : A retrospective analysis was performed in 21 patients that were diagnosed as DAH. Diagnosis of DAH was based on the presence of the "classical triad" of hemoptysis, anemia, and rapidly progressive infiltrates on chest X-ray and a finding of bronchoalveolar lavage or lung biopsy. Results : Thirteen patients (61.9%) had collagen vascular diseases (CVDs) as underlying disease and 10 patients had systemic lupus erythematosus. Females were more prevalent in CVD than in non-collagen vascular disease (NCVD). Otherwise, there were no significant differences between the two groups in terms of clinical manifestations. Dyspnea (95.2%), cough (76.2%), hemoptysis (61.9%), and fever (33.0%) were frequent symptoms. The initial creatinine level was higher in CVD than in NCVD ($3.27{\pm}3.15$ mg/dl vs. $1.19{\pm}0.94$ mg/dl, p=0.030). The corresponding drop in hemoglobin level was $2.69{\pm}1.26$ g/dl. Maximal drop in hemoglobin preceded the progression of infiltrates on the chest radiograph by $1.38{\pm}4.22$ days. The mortality rate was higher in the patients with NCVD than in those with CVD (50.0% vs. 23.1%). Conclusion : The DAH can occur not only in patients with CVD but also in those with NCVD. Higher creatinine level CVD in patients is associated with renal involvement in conjunction with DAH. The maximal drop in hemoglobin preceeding the progression of infiltrates on the chest radiograph suggests that the drop in hemoglobin is important for diagnosing DAH.
Authors observed clinically 34 cases of the corrosive esophagitis caused by various corrosive agents at Kyung Hee University Hospital from Aug. 1978 to Dec. 1980. The results obtained were as follows; 1. Among the 34 patients, male was 19 (55.9%) and female 15(44.1%). Most frequently found age was 3rd decade. 2. 18 cases(52.9%) came to the hospital within 24 hours after ingestion of the agents, and 13 cases(38.2%) within 2 to 7 days. 3. Seasonal distribution showed most frequently in spring(35.3%). 4. The moment of the accident was suicidal attempt in 27 cases(79.4%) and misdrinking in 7 cases(20.6%). 5. Acetic acid was a most commonly used agent, showing 23 cases(67.6%), lye and insecticides were next in order. 6. Common chief complaints were swallowing difficulty and sore throat. 7. The average hospital days was 14.8 days. 8. Esophagogram was performed between 3 to 7 days after ingestion in 13 cases(38.2 %), findings were constrictions on the 1st narrowing portion in 4 cases(30.8%) and within normal limits in 3 cases(23.1%). 9. Esophagoscopy was performed in 31 cases(91.2%) between 2 to 7 days after ingestion, which revealed edema and coating on entrance of the esophagus in 9 cases (29.0 %). Diffuse edema on entire length of the esophagus and within normal limits were next in order. 10. Laboratory results were as follows: Anemia was in 1 cases(2.9%), leukocytosis. in 21 cases (61.8%), increase ESR in 9 cases (26.5%), markedly increased BUN and creatinine in 3 cases (8.8%), and hypokalemia in 1 cases(2.9%). Proteinuria in 10 cases(29.4%) hematuria in 4 cases(l1.8%), and coca cola urine in 3 cases (8.8%). 11. Associated diseases were 3 cases(8.8%) of cancer, 1 cases (2.9%) of diabetes mellitus, and 1 cases(2.9%) of manic depressive illness. 12. Various treatment was given: Esophageal and gastric washing in 23 cases(67.6%) for the emergent treatment, antibiotics in 32 cases(94.1%), steroids in 30 cases(88.2%), bougienation in 5 cases(14.7%), hemodialysis in 1 case(2.9%), and partial esophagectomy with gastrostomy and gastroileal anastomosis in 1 cases(2.9%). 13. Serious complications were observed in 9 cases (26.5%), consisted of 6 cases(17.6%) of esophageal stricture, 1 cases(2.9%), of aute renal failure, 1 cases (2.9%) of pneu momediastinum with pneumonia, and 1 cases (2.9%) of pneumonia.
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