No abstract available.
Hip* ; Natural History* ; Technetium Tc 99m Medronate*

No abstract available.
Blindness* ; Orbit*

PURPOSE: Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. METHODS: DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). RESULTS: We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of BH4 responsive patients were analyzed and were divided into two groups: BH4 medication-only group and BH4 medication with diet therapy group. In the BH4 medication-only group and BH4 medication with diet therapy group, R241C was the most common mutation. CONCLUSION: Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.
Asian Continental Ancestry Group ; Base Sequence ; DNA ; Genetic Counseling ; Genotype ; Humans ; Leukocytes ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by innumerable bilateral renal cysts. It has an prevalence rate of one in 200~1,000 individuals and is a relatively common cause of renal failure. As renal function deteriorates, overall renal size usually diminish in patients with chronic renal failure. However, renal size of patients with ADPKD usually continues to increase, even after the initiation of dialysis therapy, because numerous cysts replace renal mass. Attempted methods to reduce the size of enlarged kidneys have included needle aspiration and sclerotherapy, cyst decompression surgery, laparoscopic and surgical nephrectomy. The outcome of these therapy frequently has been suboptimal, and there is a need to develop a more effective therapy. We report a case of renal arterial embolization using 99% ethanol and lipiodol mixture for ADPKD in a hemodialysis pathient, which has not been previously reported.
Decompression ; Dialysis ; Ethanol* ; Ethiodized Oil* ; Humans ; Kidney ; Kidney Failure, Chronic ; Laparoscopy ; Needles ; Nephrectomy ; Polycystic Kidney, Autosomal Dominant* ; Prevalence ; Renal Dialysis* ; Renal Insufficiency ; Sclerotherapy

Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of neurotransmitter precursors L-dopa and 5-hydroxytryptophan. BH4 deficiency is much rarer than classical phenylketonuria. Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is a cause of malignant hyperphenylalaninemia due to BH4 deficiency. When left untreated, DHPR deficiency leads to neurologic deterioration at the age of 4 or 5 months, including psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Treatment of DHPR deficiency should be initiated as early as possible with BH4 supplementation and replacement of the neurotransmitter precursors L-dopa and 5-hydroxytryptophan. We report the first case of DHPR deficiency in Korea, a child diagnosed at 9 years of age by genetic testing.
5-Hydroxytryptophan ; Biopterin ; Child ; Deglutition ; Dihydropteridine Reductase ; Dyskinesias ; Fever ; Genetic Testing ; Humans ; Korea ; Levodopa ; Neurotransmitter Agents ; Phenylketonurias ; Regeneration ; Sialorrhea ; Sleep Stages

No abstract available.
Leukemia*

We describe a 56-year-old man who developed an acute liver injury after taking alfuzosin for 1 month to control his newly diagnosed benign prostatic hypertrophy (BPH). There was no history of alcohol consumption or the taking herbal or traditional remedies. Viral causes, autoimmune hepatitis, and biliary tree obstruction were excluded. Other rare causes of hepatitis such as hemochromatosis, primary biliary cirrhosis and Wilson's disease were also absent in this patient. His liver test results began to improve after discontinuing the alfuzosin. Two weeks later, alfuzosin was administered again because the patient complained of dysuria. After 10 days of alfuzosin reuse, his liver test results worsened. Five months later after the complete discontinuation of the drug, his liver test results had returned to normal. This clinical sequence suggests that alfuzosin caused his acute liver injury.
Acute Disease ; Adrenergic alpha-Antagonists/*adverse effects ; Dysuria/pathology ; Humans ; Liver Diseases/*chemically induced/pathology ; Liver Function Tests ; Male ; Middle Aged ; Prostatic Hyperplasia/drug therapy ; Quinazolines/*adverse effects

Biloma is defined as an extraductular collection of bile within a defined capsular space. Biloma usually occurs secondary to traumatic or iatrogenic injury including abdominal surgery, percutaneous catheter drainage, and transhepatic cholangiography. The diagnostic methods include clinical history and physical examination, abdominal ultrasound, abdominal CT scan, hepatobiliary scintigraphy, endoscopic cholangiography and percutaneous aspiration, Though definite treatment by percutaneous radiographic catheter drainage and endoscopic drainage with sphincterotomy are now feasible in many instances, surgical drainage is often needed. We report a case of posttraurnatic biloma which was developed after car accident. Liver scan and endoscopic cholangiography showed typical features of biloma in this patient.
Bile ; Catheters ; Cholangiography ; Drainage ; Humans ; Liver ; Physical Examination ; Radionuclide Imaging ; Tomography, X-Ray Computed ; Ultrasonography

Ulcerative colitis (UC) is an inflammatory disease primarily involving the colonic mucosa. The extension of classic UC is uniform and continuous with no intervening areas of normal mucosa. The rectum is usually involved and the inflammation extends proximally in a continuous fashion for a variable distance. However, as more patients get colonoscoped, it had been reported that there is a wide spectrum to what is called UC. There appear to be a few patients with otherwise typical UC but with rectal sparing. And also there are patients with classic distal UC who have an isolated area of cecal disease and segmental UC with skipped area. We have experienced a case of atypical UC initially presented as a isolated lesion around the appendiceal orifice with the segmental distribution of inflammatory change without an active inflammatory lesion in the rectum. It was considered that understanding of the significance of an isolated lesion in the appendix would contribute to the elucidation of the pathogenesis of UC.
Appendix ; Cecal Diseases ; Colitis, Ulcerative* ; Colon ; Humans ; Inflammation ; Mucous Membrane ; Rectum ; Ulcer*

Myasthenia gravis is an autoimmune disease that results from an antibody-mediated reaction and occurs with thymoma in 15+ACU- of patients. It is very rarely associated with autoimmune hepatitis. Four cases of myasthenia gravis with autoimmune hepatitis have been reported in the world. We recently experienced a case of 30-year-old man with myasthenia gravis associated with thymoma and autoimmune hepatitis. This condition is the first case that has not been reported previously in Korea. We report this rare condition along with a brief review of the literature.
Adult ; Case Report ; HLA-DR Antigens/genetics ; Hepatitis, Autoimmune/etiology+ACo- ; Human ; Male ; Myasthenia Gravis/complications+ACo- ; Thymoma/etiology+ACo- ; Thymus Neoplasms/etiology+ACo-