Keratocyne(R) is the complex of cystine and vitamine B6. Cystine is collagenase inhibitor and vitamine B6 is essential to the metabolism of cystine. We administered Keratocyne(R) orally combined with specific topical therapy to investigate its healing effect on various corneal diseases. The results were as follows: 1. The cases which improved after Keratocyne(R) administration were 15 patients out of 22 patients. 2. No untoward side effects were observed. We concluded that Keratocyne(R) was effective on certain corneal diseases which released collagenase.
Collagenases ; Corneal Diseases* ; Cystine ; Humans ; Metabolism ; Vitamins

We herein report 2 cases of patient with urinary cystine stones. One was a 32-year-old woman and the other was a 52-year-old man. Each patient was found to have cystine crystals in urine and had a renal coral stone and multiple renal or ureteral stones. The female patient undertook a combined right pyelolithotomy and nephrolithotomy. But a few stones were remained in the kidney The removed stones consisted of a large staghorn stone and many small stones and were equivalent to cystine stones described in references macroscopically The male patient was treated conservatively. After discharge they have been treated with Thiola, large fluid intake and conversion of urine pH. And to date no recurrence has been noted in the female. There was decrease in size of left renal staghorn calculi in the male.
Adult ; Anthozoa ; Calculi ; Cystine* ; Female ; Humans ; Hydrogen-Ion Concentration ; Kidney ; Male ; Middle Aged ; Recurrence ; Tiopronin ; Ureter

BACKGROUND: Measurements of the concentrations of free amino acids in the blood are used as useful biochemical indicators. The sample pretreatments, including anticoagulant selection and deproteinization, are important steps in plasma-free amino acid analysis for accurate and stable results. Heparin and EDTA venous plasma in a frozen state are most commonly applied sample sources in our laboratory. Therefore, we investigated the effects of the anticoagulant and delayed deproteinization in amino acid measurement using ion-exchange chromatography. METHODS: We used Biochrom 20 amino acid analyzer (Biochrom, U.K). Blood samples were taken from 3 healthy adults after a minimum of 8 hours fasting. Two different types of vacutainer tubes, including sodium heparin and EDTA were used. To investigate variations by heparin volume, 3 mL and 6 mL of blood were drawn in 10 mL heparin tubes. We used an aqueous solution of SSA for deproteinization. To investigate variations through delayed deproteinization, we deproteinized the samples immediately and 24 hours later after plasma separation. RESULTS: There were no significant differences in concentrations except for cystine, glutamic acid and taurine, and the retention time between the 6 sample groups. The concentration of taurine was higher in the groups of late deproteinized plasma. In the groups of the same deproteinization time, there were no significant differences in concentration by different heparin concentrations. When we compared the results of 3 mL EDTA plasma with that of heparin-treated 6 mL of blood, the most widely used sample type, there was a significant difference in cystine concentration in the delayed deproteinized group but there were no differences in the immediately deproteinized group. CONCLUSIONS: Both 3 mL EDTA blood and 6 mL heparin-treated blood can be used commonly in case of using high-resolution ion-exchange chromatography and an immediately deproteinized sample. But, the results in amino acids can be affected in delayed pretreatment samples. Their effects should always be considered when interpreting laboratory results. The laboratories should standardize adequate sample preparation for the accurate analysis of amino acids.
Adult ; Amino Acids ; Chromatography, Ion Exchange ; Cystine ; Edetic Acid ; Fasting ; Glutamic Acid ; Heparin ; Humans ; Plasma ; Taurine

Pediatric urolithiasis and calcular anuria in early infancy are rare. Cystine stones may develop in utero or during early infancy. We report the case of a female 9-month-old infant with obstructive anuria resulting from cystine stones in a single functioning unit. She presented to the emergency department owing to the absence of micturition for 3 days. Radiological investigations revealed four left ureteral stones and an atrophic right kidney resulting from a calcular obstruction. Her laboratory values were as follows: serum creatinine 6.7 mg/dl, Na 132 mEq/l, K 6 mg/dl, and hematocrit 32%. An urgent percutaneous nephrostomy tube was inserted into the left side for urinary drainage, and her serum levels of creatinine and K returned to normal within 3 days. A left ureterolithotomy was the final management. Stone analysis revealed pure cystine crystals.
Anuria ; Creatinine ; Cystine ; Drainage ; Emergencies ; Female ; Hematocrit ; Humans ; Infant ; Kidney ; Nephrostomy, Percutaneous ; Ureter ; Urination ; Urolithiasis

Trichothiodystrophy is a rare autosomal recessive disorder and it is caused by reduced levels of high-sulfur amino acids and most particularly cystine in hair shafts. The patients with trichothiodystrophy show a broad range of clinical phenotypes from only hair involvement to multisystem abnormalities. A 7-year-old girl visited the clinic with a complaint of short, sparse and slow-growing hair, which had been presented since birth. The patient's hair showed characteristic dark and light banding, which gave a "tiger tail" appearance under light microscopy, and polarization and cuticular degeneration were seen under the scanning microscopy. Evaluation of the mineral density in the patient's hair shaft showed a low level of sulfur. We herein report on a case of trichothiodystrophy with sulfur-deficiency in the hair shafts.
Amino Acids ; Child ; Cystine ; Hair ; Humans ; Light ; Microscopy ; Parturition ; Phenotype ; Sulfur ; Trichothiodystrophy Syndromes

We analyzed the composition of urinary stones using chemical analysis method. From 1985 to 1995, 495 urinary calculi were eligible for stone analysis. Forty six per cent of the stones were composed of single chemical component, and pure calcium oxalate stone was the most common type of the stones consisting 34.9% of all stones, followed by 23.8% of mixture of calcium oxalate and calcium phosphate, and 92.7% of the stones had calcium component. Calcium oxalate crystal was found in 82.6% of the stones, calcium phosphate in 50.5%, ammonium magnesium phosphate in 26.7%, uric acid in 11.3% and cystine in 0.4%. Nation-wide extension of this study using chemical analysis will be mandatory for a proper assessment of the stone composition of Koreans and for planning of the proper management strategies for urinary stones in Korea.
Ammonium Compounds ; Calcium ; Calcium Oxalate ; Cystine ; Korea ; Magnesium ; Uric Acid ; Urinary Calculi*

BACKGROUND: Fudosteine, (-)-(R)-2-amino-3-(3-hydroxypropylthio)propionic acid, is a cysteine derivative that was approved in Japan, as a new mucoactive agent. The aim of this study was to evaluate the tolerability and pharmacokinetics (PK) of fudosteine in healthy Korean subjects. METHODS: A randomized, open-label, parallel, escalating single-dose study was conducted in 16 healthy Korean male subjects. The subjects were allocated to single-dose groups of 400 or 800 mg. Serial blood samples for PK analysis were collected immediately prior and after dosing up to 24 hours, and plasma concentrations were determined by high performance liquid chromatography (HPLC). Safety profiles were evaluated by monitoring adverse events and clinical evaluations throughout the study. RESULTS: Median time to peak concentration (Tmax) of both dosing group were around 0.5 hours and half-life (t1/2) were around 3 hours. Mean peak concentration (Cmax) of 400 mg and 800 mg dosing group were 10.8 and 21.5 microg/mL and the mean area under the plasma concentration versus time curve from the dosing time to infinity (AUCinf) were 26.8 and 55.0 microg.h/mL, respectively. Mean dose-normalized Cmax were 0.0271 and 0.0269 microg/mL/mg (P=0.923), respectively and dose-normalized AUCinf were 0.0669 and 0.0688 microg.hr/mL/mg (P=0.093), respectively. Fudosteine was well tolerated without any serious adverse events or clinical laboratory abnormalities. CONCLUSION: This study showed that fudosteine has a linear PK property and is well tolerated within 800 mg in healthy Korean volunteers.
Administration, Oral ; Chromatography, Liquid ; Cysteine ; Cystine ; Expectorants ; Half-Life ; Humans ; Japan ; Male ; Plasma

PURPOSE: We attempted to develop a more accurate set of tools for predicting the composition of urinary stone with using Hounsfield units (HUs) in non-enhanced spiral computed tomography (NESCT). MATERIALS AND METHODS: We evaluated 141 stones, and each of which was determined to contain the predominant stone component more than 70% (84 calcium oxalate, 35 uric acid, 16 carbonate apatite, 4 cystine and 2 brushite). NESCT was conducted at different collimations that varied between 3.75mm, 5mm and 7mm through the stones. One region of interest (ROI) was acquired for the plane that passed through the widest transverse diameter of the stone at the bone window setting. The mean size of the ROI in which the highest attenuation area was located was determined to be 2.0+/-0.5mm2, and we recorded the mean and maximum HU values. In order to assess the partial volume effects, we used the S/C ratio (stone size/collimation ratio). RESULTS: As the S/C ratio increased, both mean and maximum HU values increased, as did the ability to differentiate between different stone compositions. Also, under conditions in which the S/C ratio exceeded 2, we proved to be able to differentiate uric acid stones from other stones, with no overlap in attenuation. Maximum HU values also proved to be effective tools for determining stone composition, as compared with the mean HU values. CONCLUSIONS: In situations in which the S/C ratio exceeded 2, CT HUs proved to be a useful and accurate measurement for predicting uric acid stones.
Calcium Oxalate ; Calculi ; Carbon ; Cystine ; Tomography, Spiral Computed* ; Uric Acid ; Urinary Calculi* ; Urinary Tract

Pulmonary embolism (PE) is a serious clinical problem in patients with acquired risk factor such as cancer, immobilization, recent trauma and surgery. However PE may occur in hereditary thrombophilia like protein S deficiency which is caused by PROS1 gene mutation. The author reports a case of pulmonary embolism in a 33-year-old man with protein S deficiency and PROS1 gene mutation. Genetic analysis of the patient showed mutation 1063C→T in exon 10 of PROS1 gene, resulting in a substitution of arginine by cystine at position 355 (R355C).
Adult ; Arginine ; Cystine ; Exons ; Humans ; Immobilization ; Protein S Deficiency ; Pulmonary Embolism* ; Risk Factors ; Thrombophilia

BACKGROUND AND OBJECTIVES: Laryngopharyngeal reflux disease (LPRD) is relatively common disease. N-acetyl cysteine (NAC) has both mucolytic and antioxidant effect, also may be beneficial in inflammatory airway diseases. The purpose of this study was to evaluate the efficacy and safety of inhaled NAC therapy in LPRD. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 525 LPRD patients at 12 medical centers. Finally 401 patients subjected to inhaled NAC therapy for 2 months were enrolled in the study. We analyzed the change of Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) after use of NAC for 4 weeks and 8 weeks in addition to the patient's compliance of the treatment. RESULTS: The RSI score significantly decreased from 19.87±6.34 to 12.78±6.93 after 4 weeks and to 10.65±7.47 after 8 weeks. The RFS score also significantly decreased from 9.29±3.4 to 7.17±3.41 after 4 weeks and to 6.1±3.73 after 8 weeks (p<0.05). During the treatment periods, 42 patients (10.4%) reported to have 80 episodes of discomfort. Throat discomfort (33%) and nausea (28%) were most common complaints, but the duration of discomfort was usually less than 4 weeks. CONCLUSION: Inhaled NAC treatment is highly effective for the reduction of both subjective and objective findings in LPRD patients. This study will provide the evidence of new treatment option for patients with LPRD. However, further studies will be needs to assess the real effect of inhaled NAC therapy as a standard treatment regimen of LPRD.
Antioxidants ; Compliance ; Cysteine ; Cystine ; Humans ; Inhalation ; Laryngopharyngeal Reflux ; Medical Records ; Nausea ; Pharynx ; Retrospective Studies