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991.
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Patients with Fabry disease on dialysis in the United States. 总被引:9,自引:0,他引:9
Ravi Thadhani Myles Wolf Michael L West Marcello Tonelli Robin Ruthazer Gregory M Pastores Gregorio T Obrador 《Kidney international》2002,61(1):249-255
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. 相似文献
994.
995.
Endoscopic endonasal removal of an intra-suprasellar Rathke's cleft cyst: case report and surgical considerations. 总被引:3,自引:0,他引:3
A Alfieri R Schettino A Tarfani O Bonzi G A Rossi L Monolo 《Minimally invasive neurosurgery》2002,45(1):47-51
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. 相似文献
996.
997.
Aetiology and outcome of severe community-acquired pneumonia in children admitted to a paediatric intensive care unit. 总被引:1,自引:0,他引:1
OBJECTIVE: To determine the aetiological agents and outcome of severe community-acquired pneumonia (SCAP) in children admitted to the paediatric intensive care unit (PICU) at Kalafong Hospital, Pretoria. PATIENTS AND METHODS: An audit was done after a protocol was implemented to identify the aetiological agents in children with life-threatening SCAP admitted to the PICU from the emergency room. The following investigations were done as per protocol: blood culture, culture of the tracheal aspirate, immunofluorescence and culture of the nasopharyngeal aspirate, microscopy and culture of the gastric juice for Mycobacterium tuberculosis, and determination of HIV status. The following data, documented prospectively, were obtained from patient records: date of admission, age, gender, weight, duration of ventilation, duration of stay in the PICU, survival or death, and severity of illness as determined by means of the score for acute neonatal physiology (SNAP) or paediatric risk of mortality (PRISM) score depending on the child's age. RESULTS: Twenty-three children were admitted over a 1-year period (1 November 1994-30 October 1995). Their median age was 10 weeks (range 2 weeks-5 years) and the sex distribution was equal. Two children were HIV-infected. Twenty children received mechanical ventilation for a median period of 6.5 days (range 2-16 days). Aetiological agents were identified in 15/23 children (65%). Respiratory syncytial virus (RSV) was the most common pathogen, identified in 7/23 children, Klebsiella pneumoniae was the most common bacterial pathogen, identified in 5 children (2 blood cultures and 3 tracheal aspirates). Tuberculosis was not diagnosed. The mean PRISM score was similar in survivors and children who died. The case fatality rate was 30%. The 7 children who died had a median arterial oxygen tension/fraction of inspired oxygen (PaO2/FiO2) ratio of 94 (range 32-111) and the 16 survivors had a median ratio of 146 (range 51-252) (P = 0.01) on admission. Both HIV-infected children died and postmortem examination showed a pneumonia due to Pneumocystis carinii and cytomegalovirus. CONCLUSIONS: SCAP occurs in very young children. One or more pathogens were isolated in 65% of cases. Viral pathogens predominated, with RSV being the most common. The yield of positive blood cultures was low at 17%. Streptococcus pneumoniae and Haemophilus influenzae were not found. The case fatality rate was 30% and death was more likely with a low PaO2/FiO2 ratio on admission. 相似文献
998.
999.
De-coupling of cognitive performance and cerebral functional response during working memory in schizophrenia. 总被引:4,自引:0,他引:4
Working memory dysfunction is considered to be fundamental to the cognitive and clinical features evident in schizophrenia. Functional neuroimaging studies have begun to elucidate the neurobiological basis of such deficits, however, interpretation of these studies may be confounded by performance impairment, when the cognitive load exceeds the limited response capacity of patients with schizophrenia. In this study, patients were pre-selected on the basis of intact performance on a relatively low-load verbal working memory task, in order to mitigate against performance confounds. Subjects included 20 right-handed male subjects with chronic schizophrenia, and 20 right-handed, age-matched, male healthy controls, without personal or familial psychiatric history. All subjects underwent fMRI scanning whilst performing a verbal n-back task. There were no significant between-group differences in target identification; the patient group showed a significantly increased mean response latency. Both groups demonstrated robust fronto-parietal activation. In the control subjects, the power of functional response was positively correlated with reaction time in bilateral posterior parietal cortex, however, this coupling of behavioural performance and cerebral response was not evident in the patients. This deficit, apparent within the performance capacity of the patients, may represent a fundamental abnormality in schizophrenia, and may compromise performance at higher cognitive loads. 相似文献
1000.
No impact of repeated endoscopic screens on gastric cancer mortality in a prospectively followed Chinese population at high risk. 总被引:6,自引:0,他引:6
B Riecken R Pfeiffer J L Ma M L Jin J Y Li W D Liu L Zhang Y S Chang M H Gail W C You 《Preventive medicine》2002,34(1):22-28
BACKGROUND: Gastric cancer (GC) is the leading cause of cancer deaths in China. Our study prospectively evaluated the impact of repeated endoscopic screens on GC mortality in a high-risk population in China. METHODS: Between 1989 and 1999, a population-based gastroscopic screening was conducted in 4,394 residents of Linqu County, China, a region with the highest rates of GC worldwide. Residents ages 35 to 64 years received initial gastroscopies with biopsies in 1989. Repeated endoscopies were performed in 1994 and 1999. Cancer occurrences and deaths were actively monitored throughout the entire period until July 2000. Mortality from GC was compared with expected values based on mortality rates obtained for Linqu in the 1990-1992 Chinese Cancer Mortality Survey. RESULTS: Between March 1989 and July 2000, 39,303 person-years were accumulated; 85 new GCs occurred, 29 (34.5%) were in early stage. Fifty-eight cases (68%) were identified at one of the screens. The number of observed deaths from GC (37) was close to the expected (36.8). The standardized mortality ratio was 1.01 (95% CI 0.72-1.37) for the entire cohort, 1.13 (95% CI 0.77-1.57) for males, and 0.65 (95% CI 0.26-1.32) for females. CONCLUSIONS: Despite high population coverage with repeated screens, no reduction in GC mortality was observed in this high-risk population in China. 相似文献