Patients with Fabry disease on dialysis in the United States.

BACKGROUND.: Fabry disease results from an X-linked deficiency of lysosomal alpha-galactosidase A and is a rare cause of end-stage renal disease. Little is known about the characteristics of patients with Fabry disease that initiate dialysis in the United States, although data from Europe suggests these individuals have a poor survival. METHODS.: Using the United States Renal Disease System database, we first studied in detail 42 Fabry patients who initiated dialysis between April 1995 (following the introduction of the new detailed HCFA 2728 form) and July 1998. To examine crude survival in a larger cohort, 95 Fabry patients were studied who initiated dialysis between 1985 and 1993, similar to the European Registry. Diabetic and non-diabetic controls matched by age, gender, race, year of dialysis initiation, and initial dialysis modality were examined for comparison. RESULTS.: During the years 1995 to 1998, the mean age of Fabry patients that initiated dialysis was 42 years, 83% were Caucasian, and 10% were African American. Despite the X-linked inheritance of Fabry disease, 12% of Fabry patients on dialysis were female. At initiation of dialysis mean serum albumin and creatinine were significantly higher and mean body mass index was significantly lower among Fabry patients, but mean glomerular filtration rate was similar to controls. Fabry patients tended to have a lower three-year survival compared to non-diabetic controls, but the results were not significantly different. In a larger cohort of Fabry patients who initiated dialysis between 1985 and 1993, the three-year survival of Fabry patients was significantly lower than non-diabetic controls: 63% (95% CI, 50 to 75%) versus 74% (95% CI, 67 to 80%; P=0.03). CONCLUSION.: End-stage renal disease is associated with significant morbidity and mortality among patients with Fabry disease. Recent evidence that progression of Fabry disease may be attenuated by enzyme replacement therapy necessitates increased awareness of Fabry disease and its comorbidities.     

Plasma proteins in a standardised skin mini-erosion (II): effects of extraction pressure

Background  

A standardised suction technique has been used to sample plasma proteins in dermal interstitial fluid (IF) serially for 5 to 6 days from a suction-induced skin mini-erosion. Increased protein concentrations ascribed to inflammation have been shown from day 1 onward. In this study, we assessed the effect of two different extraction pressures on IF sample composition.     

Sources of stress in Australian adolescents: factor structure and stability over time

Adolescent stress is an emerging area of importance in considerations of the health of young people. Exposure to stress predicts a range of both physical and mental health problems in adolescents and relates, as well, to the initiation of important health risk behaviours. Yet the measurement of stress in adolescents has been as fraught with methodological difficulty as it has been for adults. This paper examines the Adolescent Stress Questionnaire (ASQ) which was developed specifically to address the domain of stressors specific to adolescent experience and looks at three cohorts of responses to this questionnaire over time (1995, 1998 and 2001). It assesses the stability of the original 7‐factor structure of the ASQ over time, and while confirmatory factor analysis indicates that stability to be acceptable, it also suggests that either adolescent stressors themselves, or the language by which they are reported, vary sufficiently over time to warrant the refinement of the instrument. Copyright © 2002 John Wiley & Sons, Ltd.     

Endoscopic endonasal removal of an intra-suprasellar Rathke's cleft cyst: case report and surgical considerations.

An endoscopic endonasal approach was performed to remove an intra-suprasellar Rathke's cleft cyst. Rathke's cleft cyst are benign lesions, rarely diagnosed because they are often asymptomatic. To the best of our knowledge, at least 475 cases of Rathke's cleft cysts have been reported. They seem to arise from remnants of Rathke's pouch, an invagination of the stomodeum. A 52-year-old woman, complaining of bilateral frontal headaches, was operated on by using an endoscopic endonasal approach, for an intra-suprasellar tumor. The pre-operative diagnosis was non-functioning pituitary adenoma. Intra-operatively a creamy-coloured viscous tissue was found. After the removal of the cyst contents and of the capsule, the suprasellar structures were seen well. The chiasmatic cistern, the chiasm, the pituitary stalk and the pituitary gland were visualized with 0 and 30 degree endoscopes. The pathological findings showed a well-differentiated cuboidal epithelium. The diagnosis was Rathke's cleft cyst. No post-operative complications were observed. The endoscopic technique was particularly suitable in this case, both for the Rathke's cleft features and for an excellent outcome. The Rathke's cleft cyst was easily removed by suction and the cyst wall was entirely removed with curettes and pituitary punches. The hypophysis was distinguished from the cyst and was preserved. The surgical manoeuvres were all done under direct visual control. The absence of nasal packing and of breathing difficulties made comfortable the post-operative outcome. Thus, the endoscopic endonasal approach can be considered the favourite technique in case of either intra- and/or suprasellar Rathke's cleft cysts.     

Maxillary sinus puncture and culture in the diagnosis of acute rhinosinusitis: the case for pursuing alternative culture methods.

OBJECTIVE: Traditional assessments of the microbial flora associated with acute bacterial rhinosinusitis have relied on maxillary sinus punctures (taps) and culture. These taps are now considered the gold standard for obtaining cultures and are used as the method of identifying bacterial pathogens in antimicrobial trials. Maxillary sinus taps are limited by discomfort to the patients and technical concerns. Because of these factors, the standard of performing taps has limited antibiotic trials and microbial surveillance. Alternatives to maxillary sinus taps have been explored. STUDY DESIGN: We conducted a retrospective, systematic review of the literature from 1950 to 2000 of articles comparing culture techniques in the nose and paranasal sinuses for acute bacterial rhinosinusitis. RESULTS: Nasal cultures have poor correlation to maxillary sinus cultures, whereas there is 60% to 85% concordance between endoscopically guided middle meatal cultures and maxillary sinus cultures. These studies, however, are all limited by small sample sizes and therefore are inadequate to make any concrete recommendations regarding the relative role of endoscopically guided middle meatal cultures as a formal method of pathogen identification in acute bacterial rhinosinusitis. CONCLUSION: A formal prospective study with sufficient sample size to assess the concordance between the microbial flora of the maxillary sinus punctures and middle meatal cultures in acute rhinosinusitis is recommended.     

Comparison of ThinPrep versus conventional smear cytopreparatory techniques for fine-needle aspiration specimens of head and neck masses.

OBJECTIVES: Diagnostic accuracy of the ThinPrep process (Cytyc, Boxborough, MA) was compared with that of conventional (smear) cytopreparation for fine-needle aspiration (FNA) of head and neck masses. METHODS: In a prospective, randomized, single-blinded study, 209 patients served as their own controls and underwent 236 FNAs using ThinPrep and conventional (smear) cytopreparatory techniques. RESULTS: ThinPrep produced less air-drying artifact and less mechanical distortion than the conventional method. The conventional technique was diagnostic in 63% of samples; the ThinPrep technique was diagnostic in 55% of samples. When all results were combined, pathologists subjectively preferred the conventional technique but accepted use of ThinPrep as the only cytopreparatory technique for most head and neck masses. CONCLUSIONS: For adequately experienced cytopathologists, ThinPrep is acceptable for FNA of salivary masses, neck cysts, metastatic lymph nodes, and thyroid lesions. Conventional smear technique should be used for FNA of nonmetastatic lymphoid lesions. Use of ThinPrep can complement use of the conventional (smear) cytopreparatory technique when aspirate is nondiagnostic or bloody, when the patient has a blood-borne infectious disease, when the clinician is inexperienced, or when aspirate has entered the syringe.