Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS: A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. RESULTS: Twenty-nine patients had elevated serum GL3 levels. The alpha-GaL A activity was determined for the 26 patients with high GL3 levels. The mean alpha-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased alpha-GaL A activity. Among the group with high GL3 levels, 15 women had a alpha-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and alpha-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. CONCLUSIONS: Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.

Transoral CO2 Laser Resection of Laryngeal Cancer / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Early stages of laryngeal carcinoma are usually treated with three different therapeutic options: partial or total laryngectomy, radiotherapy and transoral endoscopic CO2 laser partial laryngectomy. Combined use of CO2 laser and operating microscope, initially described by Strong and Jako in 1972, has been developed to a variety of procedures by many surgeons. The aim of this study was to define when laser resection of early stage laryngeal carcinoma is indicated and to compare the results obtained by laser surgery with other therapeutic options. MATERIALS AND METHOD: A retrospective study of 50 patients (glottic carcinoma 41 cases, supraglottic carcinoma 9 cases) treated between May, 1997 and March, 2003 at Department of Otolaryngology, Head and Neck Surgery of Kosin Medical College Hospital, was performed. Glottic cancers were treated with cordectomy type I to V, according to the classification proposed by the European Laryngological Society in 2000. Supraglottic cancer was treated with partial epiglottectomy, epiglottectomy, supraglottic partial laryngectomy, supraglottic laryngectomy, and extended supraglottic laryngectomy. RESULTS: The overall survival rate at 3 years was 100% for the glottic cancer (Tis, 3; T1a, 27; T1b, 5; T2, 2; rT1a, 3; rT2, 1) and local recurrence was identified in 1 patient, thus local control rate was 97.6%. Overall survival rate at 3 years was 100 % for the supraglottic cancer (T1, 3; T2, 2; T3, 1; rT2, 2; rT3, 1) and local control rate was 100%. CONCLUSION: Our results suggest that transoral endoscopic laser resection is a cost-effective procedure with good oncologic results and has acceptable functional results in early laryngeal carcinoma.

A Case of Cavernous Hemangioma of the Pyriform Sinus / 대한이비인후과학회지

Approximately 60% of all hemangiomas occur in the head and neck region, but hypopharyngeal hemangiomas are very rare. The diagnoses were classified depending on histopathologic findings into cavernous hemangioma, capillary hemangioma and mixed hemangioma. The treatments are sclero theraphy, surgical excision, vascular ligation, cryotheraphy, electrical cautery, ND Yag laser excision, and CO2 laser excision. We have experienced a case of hemangioma in the medial wall of the left pyriform sinus. In our case, we removed it "en bloc" without difficulty with the endoscopic CO2 laser. The histologic diagnosis was a cavernous hemangioma with no evidence of malignancy. One year after surgery, there was no evidence of residual tumors or recurrence. We report this case of cavernous hemangioma in the hypopharynx.