Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hurler syndrome (HS) is an autosomal recessive, inherited metabolic storage disorder due to deficiency of lysosomal alpha-L-iduronidase (IDU) enzyme activity. Untreated patients develop progressive mental retardation and multisystem morbidity with a median life expectancy of 5 years. Allogeneic hematopoietic cell transplantation (HCT) can achieve stabilization and even improvement of intellect, with long-term survival. However, children with HS have an increased incidence of graft failure, usually with concomitant autologous marrow reconstitution. Between 1983 and 2000, 71 Hurler children underwent HCT at the University of Minnesota. Of these 71, 19 (27%) experienced graft failure. We report HCT outcomes in all 11 Hurler patients receiving a second HCT at the University of Minnesota. Median age at second HCT was 25 months (range, 16 to 45 months); median time from first HCT was 8 months (range, 4 to 18.5 months). The conditioning regimen consisted of cyclophosphamide/TBI/ATG (n = 8) or busulfan/cyclophosphamide/ATG (n = 3). The source of bone marrow was an unrelated donor in six, matched sibling in four, and mismatched related in one. Five of the 11 grafts were T cell depleted prior to infusion. Overall, 10 of 11 patients showed donor-derived engraftment, of whom three developed grade 3 to 4 acute GVHD. Five of 11 patients are surviving a median of 25 months (range, 2 months to 12 years) with an overall actuarial survival of 50% (95% CI, 27% to 93%) at 4 years. All five show sustained donor engraftment with normalization of IDU activity levels. Three of five evaluable patients demonstrated stabilization of neuropsychological function after second HCT. Currently, allogeneic donor-derived hematopoiesis provides the only chance for long-term survival and improved quality of life in Hurler patients. While graft failure in Hurler patients requires further investigation, a timely second HCT can be well-tolerated and beneficial.
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PMID:Outcome of second hematopoietic cell transplantation in Hurler syndrome. 1196 Feb 68

The purpose of this study was to analyze characteristics of individuals working in the profession of neuropsychology in Latin America in order to understand their background, professional training, current work situation, assessment and diagnostic procedures used, rehabilitation techniques employed, population targeted, teaching responsibilities, and research activities. A total of 808 professionals working in neuropsychology from 17 countries in Latin America completed an online survey between July 2013 and January 2014. The majority of participants were female and the mean age was 36.76 years (range 21-74 years). The majority of professionals working in neuropsychology in Latin America have a background in psychology, with some additional specialized training and supervised clinical practice. Over half work in private practice, universities, or private clinics and are quite satisfied with their work. Those who identify themselves as clinicians primarily work with individuals with learning problems, ADHD, mental retardation, TBI, dementia, and stroke. The majority respondents cite the top barrier in the use of neuropsychological instruments to be the lack of normative data for their countries. The top perceived barriers to the field include: lack of academic training programs, lack of clinical training opportunities, lack of willingness to collaborate between professionals, and lack of access to neuropsychological instruments. There is a need in Latin America to increase regulation, improve graduate curriculums, enhance existing clinical training, develop professional certification programs, validate existing neuropsychological tests, and create new, culturally-relevant instruments.
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PMID:Profession of neuropsychology in Latin America. 2728 50