BACKGROUND: Methylmalonic aciduria can be caused by inherited defects in the methylmalonyl-CoA mutase enzyme, Inherited defects in the metabolism of vitamin Bl2 and acquired or inherited vitamin Bl2 deficiency. Quantitation of urinary methylmalonic acid (MMA) is very useful In diagnosis of methylmalonic acidemia and cobalamin deficiency. We evaluated a quantitation method of urinary MMA and determined reference values. METHODS: The method involved stable isotope dilution gas chromatographymass spectrometry (GC-MS) with (methyl 2H3)-MMA as the internal standard. We determined the detection limit, linearity and periodic variations of the assay. Urinary MMA levels were measured in 70 individuals of ages newborn to 58 years with no metabolic disorders. RESULTS: The lower limit of detection calculated from blank runs (mean+/-3SD) was 2.62nmo1/m1. One control urine tramp)e analyzed 23 times within 3 weeks game results of 7.83+/-1.09 (mean+/-SD, CV=13.8%) nmol/mL. The linearity at four different concentrations of MMA was acceptable (R2=0.9992). The concentration of urinary MMA in 70 individuals was 2.33+/-2.19 mmol/mol creatinine (mean+/-SD). Age related reference values which decreased with age were also reported (p=1.23x10-9). CONCLUSIONS: The described method is sensitive, specific and noninvasive, which is considered the gold standard method for measuring MMA. The method could be used as a screening test for cobalamin deficiency and inherited methyl malonic acidemia. On the basis of the narrow range of normal concentration, it is expected that the method would readily detect mild cobalamin deficiency.
Chromatography, Gas* ; Creatinine ; Diagnosis ; Gas Chromatography-Mass Spectrometry* ; Humans ; Infant, Newborn ; Limit of Detection ; Mass Screening ; Metabolism ; Methylmalonic Acid* ; Methylmalonyl-CoA Mutase ; Reference Values ; Spectrum Analysis ; Vitamin B 12 ; Vitamins

Major concerns in cleft palate repair are improved speech results and adequate maxillary growth. In these respects, Furlow's double reversing Z-plasty which requires minimal hard palatal dissection and redirects palatal muscles to produce an overlapping muscle sling is theoretically optimal method to close the cleft palate. However, it often requires backcut around the maxillary tubercle even dissection around the pedicle on oral mucosal Z-plasty flap. Raw surface heals secondarily but leads to scarring within the soft palate. In the current study, IIpatients all had incomplete cleft palate and were operated double reversing Z-palatoplasty using intraoperative rapid mucosal expansion (IRME), from November, 1996 till July, 1997. With the IRME, we reduced the incidence of backcut or dissection on the oral mucosal flap. Only three patients need small backcut incision and two of these were closed primarily with V-Y fashion. To examine the histologic changes and expansion rate with the IRME, same procedures were performed to palatal mucosa of three cats. Expanded mucosal size was increased to 33.3% and histologically, change of mucosal architecture was not found except capillary dilatation. As a result, intraoperative mucosal expansion offers sufficient mucosal size, reduce incidence of backcut, therefore minimizes palatal scar formation. Balanced maxillofacial growth and normal occlusion are expected with this procedure.
Animals ; Capillaries ; Cats ; Cicatrix ; Cleft Palate ; Dilatation ; Humans ; Incidence ; Mucous Membrane ; Palatal Muscles ; Palate, Soft

BACKGROUND: Therapeutic drug monitoring (TDM) has been shown to be effective in minimizing the risk for toxicity and maximizing the efficacy of the drugs. The application of pharmacokinetics principles to indiviualization and optimization of dosage is necessary. We evolved interpretative report system of digoxin determination in a view of individual's pharmacokinetics. The alto of the present study is to validate the effectiveness of the interpretative report system in digoxin therapeutic monitoring service. METHODS: We reviewed 125 inpatients of two groups. 4 group, before interpretative reporting, had 86 inpatients from February 1996 to March 1996. B group included 39 inpatients from September 1996 to October 1996 after the practice of the sytem. Digoxin concentrations were measured in serum by TDxFlex (Abbott Laboratories, U.S.A.). Each patient's digoxin pharmacokinetics was determined by using the Abbott-base Pharmacokinetics system (Abbott Laboratories, U.S.A.) . The interpretation for the assayed digoxin level, the recommendation of maintenance dosage and the simulation graph with predicted serum levels were included in the report. The effectiveness of the reporting system was evaluated by comparing the appropriateness of digoxin level measurement between both groups. RESULTS: It revealed that appropriate measurements of digoxin level were 59.5 % of the tests in A group and 77.1% of those in B group (p=0.006). Evaluation of serum digoxin concentrations stratified by digoxin concentration showed also significant difference among the percentage of tests in each concentration range between both groups (p=0.011). CONCLUSIONS: Interpretative report system for the assayed results caused to increase in the appropriateness of digoxin measurement. The report system with some improvement which is achieved through the active approach to physician helps us use TDM effectively. The system can be applied to the other TDM drugs.
Digoxin ; Drug Monitoring* ; Humans ; Inpatients ; Pharmacokinetics

BACKGROUND: Therapeutic drug monitoring (TDM) has been shown to be effective in minimizing the risk for toxicity and maximizing the efficacy of the drugs. The application of pharmacokinetics principles to indiviualization and optimization of dosage is necessary. We evolved interpretative report system of digoxin determination in a view of individual's pharmacokinetics. The alto of the present study is to validate the effectiveness of the interpretative report system in digoxin therapeutic monitoring service. METHODS: We reviewed 125 inpatients of two groups. 4 group, before interpretative reporting, had 86 inpatients from February 1996 to March 1996. B group included 39 inpatients from September 1996 to October 1996 after the practice of the sytem. Digoxin concentrations were measured in serum by TDxFlex (Abbott Laboratories, U.S.A.). Each patient's digoxin pharmacokinetics was determined by using the Abbott-base Pharmacokinetics system (Abbott Laboratories, U.S.A.) . The interpretation for the assayed digoxin level, the recommendation of maintenance dosage and the simulation graph with predicted serum levels were included in the report. The effectiveness of the reporting system was evaluated by comparing the appropriateness of digoxin level measurement between both groups. RESULTS: It revealed that appropriate measurements of digoxin level were 59.5 % of the tests in A group and 77.1% of those in B group (p=0.006). Evaluation of serum digoxin concentrations stratified by digoxin concentration showed also significant difference among the percentage of tests in each concentration range between both groups (p=0.011). CONCLUSIONS: Interpretative report system for the assayed results caused to increase in the appropriateness of digoxin measurement. The report system with some improvement which is achieved through the active approach to physician helps us use TDM effectively. The system can be applied to the other TDM drugs.
Digoxin ; Drug Monitoring* ; Humans ; Inpatients ; Pharmacokinetics

No abstract available.
Coronary Vessels* ; Mammary Arteries* ; Transplants*

Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requires the study of another ethnic group, especially Asian population for the confirmation. This study was an anlysis of restriction fragment length polymorphism of the Wilson's disease with the probes on D13S26, D13S31, and D13S59, The subject was 34 persons of seven families. The serum ceruloplasmin and the serum copper were also measured. The results were as follows: 1) The Wilson disease gene was also presumed to be located in chromosome 13q area in Korean patients and D13S25, D13S26, D13S31 and D13S59 gene loci were also linked to Wilson disease of Koreans. The lod score of D13S25 was 1.45 (theta =0: D13S59, 1.13 (theta =0): D13S26, 247 (theta =0). 2) Three siblings of Wilson disease patients were diagnosed as carriers by the analysis of restriction fragment length polymorphism. 3) In Wilson disease patients, the serum ceruloplasmin and copper was 6.8+/1.8dl, and 64.7+/-38.6microg/dl respectively and it is 18.8+/-6.1 mg/dl and 65.3+/-10.6microg/dl respectively in heterozygotes.
Asian Continental Ancestry Group ; Ceruloplasmin ; Copper ; Ethnic Groups ; Europe ; Genetic Linkage* ; Hepatolenticular Degeneration* ; Heterozygote ; Humans ; Lod Score ; Middle East ; North America ; Polymorphism, Restriction Fragment Length ; Siblings

No abstract available.
Facial Bones* ; Humans

Paget's disease is classified, according to location, as mammary or extramammary disease. Extramammary Paget's disease especially in the vulva is extremely rare. Several hundred cases have been described worldwide. Patients with Paget's disease of the vulva are usually white and postmenopausal. The cause of which remains elusive. A case of vulva Paget's disease is presented with brief review of literature.
Humans ; Paget Disease, Extramammary ; Vulva

No abstract available.
Nose*

We report an extremely rare case in which two tuberculids, papulonecrotic tuberculid and erythema nodosum, occurred together. A 16-year-old girl had two types of clinically distinct lesions; asymptomatic necrotic papules on the upper and lower extremities and painful subcutaneous nodules on the legs. A Mantoux test showed a strong positive reaction. Histopathologic findings of the necrotic papule and subcutaneous nodule were consistent with papulonecrotic tuberculid and erythema nodosum, respectively. There was no extracutaneous focus of tuberculosis. Polymerase chain reaction for tuberculous bacilli in the papulonecrotic tuberculid lesion revealed a negative result. Antituberculous therapy brought a rapid clinical improvement of both lesions.
Adolescent ; Erythema Nodosum* ; Erythema* ; Female ; Humans ; Leg ; Lower Extremity ; Polymerase Chain Reaction ; Tuberculosis ; Tuberculosis, Cutaneous*