Families who previously refused organ donation would agree to donate in a new situation: a cross-sectional study.

BACKGROUND: The limited supply of organs restricts the number of transplantations. Studying the families who refuse donation may help to increase the number of transplantations. METHODS: This descriptive cross-sectional study used a questionnaire to obtain information from 61 family members who had refused to donate organs from January 1997 to December 2004. The exclusion criterion was donor death less than 1 year from the study. The mean age of subjects was 41 ± 12.7 years (range, 18 to 79 years) with 66% women. RESULTS: More than half (36 of 69; 52%) of the families who refused donation would agree to donate in a new situation. The primary reasons for refusing donation were: disagreement among family members (25 of 128; 19%), lack of knowledge regarding the deceased's wishes (22 of 128; 17%), and previous request from the deceased not to be a donor (17 of 128; 13%). The most frequent suggestions to increase organ donation were to provide families with more information (43 of 149; 29%), initiate contact among the families (36 of 149; 24%), and involve a trusted physician (30 of 149; 20%). CONCLUSION: Most family members who refused organ donation changed their minds and would agree to donate in a few situation. Most of the reasons for refusing to donate reflected a lack of information and discussion on the topic.

Patients undergoing liver transplantation: psychosocial characteristics, depressive symptoms, and quality of life.

BACKGROUND: Liver transplantation is the treatment of choice for patients with end-stage liver diseases to improve social rehabilitation and quality of life. Our objective was to evaluate the psychosocial characteristics, depressive symptoms, and quality of life among patients undergoing liver transplantation. MATERIALS AND METHODS: Patients underwent individual assessments using a semidirected interview. Beck's Depression Inventory and SF-36 Quality of Life Questionnaire. The signal test was used with a significance level set at .05. RESULTS: The characteristics of the sample (n = 30) were compatible with literature data for gender (n = 20 men), age (mean age, 51.96 years), education (elementary and middle school), and etiology (viral hepatitis). A significant number of patients were not able to maintain their professional activities: prior to transplantation (n = 18) and after transplantation (n = 13) due to the adverse effects of immunosuppressants (n = 9). The analysis indicated a significant quality of life improvement after transplantation for the following domains: functional capacity (P = .047), physical aspects (P = .024), pain (P = .001), overall health status (P = .003), and social aspects (P = .021). Significant depressive symptoms (n = 6) were experienced before and after the surgery. CONCLUSIONS: The data indicated a significant quality of life improvement after liver transplantation. Occupational activity and surgery time had a positive influence on these results. The frequency of depressive symptoms was similar before and after transplantation, correlating with less favorable quality of life scores. The results indicated the need to provide regular psychosocial assessment and follow-up in all stages of therapy.

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60 percent females, 40 percent males) who met the NIH criteria for the diagnosis of NF1, 98 percent had more than six café-au-lait patches, 94.5 percent had axillary freckling, 45 percent had inguinal freckling, and 87.5 percent had Lisch nodules. Cutaneous neurofibromas were observed in 96 percent, and 40 percent presented plexiform neurofibromas. A positive family history of NF1 was found in 60 percent, and mental retardation occurred in 35 percent. Some degree of scoliosis was noted in 49 percent, 51 percent had macrocephaly, 40 percent had short stature, 76 percent had learning difficulties, and 2 percent had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.