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71.
John McEvoy Suzanne Guerin Philip Dodd John Hillery 《Journal of Applied Research in Intellectual Disabilities》2010,23(6):585-596
Background Care staff are a major source of information and support for people with intellectual disabilities (ID) following a bereavement. How staff perceive the loss experience has implications for the quality and level of support provided to individuals with ID at times of personal loss. Method Twenty‐four staff members participated in the three focus groups aimed at examining staff knowledge and attitudes to bereavement, experiences of supporting people with ID during times of loss, the degree of service agency support and staff training needs. Results Staff described service users’ reactions to loss as for the most part similar to those observed in the typical population. Staff reported a lack of confidence and uncertainty, particularly around operational procedures following bereavement. Conflicting attitudes between themselves and the service agency around bereavement support procedures and a lack of awareness of the emotional impact of grief on service users and staff were highlighted by participants along with the need for quality information, skill development and further training. Conclusions Service agencies need to be more proactive in supporting staff and in developing policy and guidelines in conjunction with practical training initiatives. There is a general need for greater awareness of the emotional impact of loss on staff and service users within specialist services. 相似文献
72.
Olanzapine for chronic, stereotypic self-injurious behaviour: a pilot study in seven adults with intellectual disability 总被引:2,自引:0,他引:2
M. McDonough J. Hillery & N. Kennedy 《Journal of intellectual disability research : JIDR》2000,44(6):677-684
Dopamine one (D1) receptor supersensitvity in the corpus striatum is said to be the primary mechanism within the dopamine model proposed for chronic, refractory self‐injurious behaviour (SIB), which may explain why conventional neuroleptics have proven largely ineffective. In common with other atypical antipsychotic agents, olanzapine has more affinity for the D1 receptor. The present study explored whether olanzapine could reduce rates of the stereotypic form of chronic SIB, a subtype where dopamine dysfunction is the most likely underlying mechanism. A clinical sample of seven patients with various levels of learning disability who displayed features of stereotypic SIB were assessed over a 6‐week period of baseline measurement and a 15‐week treatment phase during which olanzapine was added to existing medication. Both SIB and other aberrant behaviours were measured by daily nurse rating and the Self‐Injury Trauma Scale (SITS). All measurements were unblind. Doses ranged from 5 to 15 mg. Out of the seven subjects, three showed a clear improvement, one showed a marginal improvement, one deteriorated, and the data was equivocal for the remaining two individuals. The means of the SITS Number and Severity Indices (NI and SI, respectively) reduced significantly from baseline during both the 5‐ and 10‐mg treatment phases, and taking treatment as a whole, by 53% and 48%, respectively (NI: mean = 0.7 units reduction, P = 0.02; SI: mean = 0.9 units reduction, P = 0.04). The risk index also reduced, but did not reach significance. A modest reduction in mean nurse‐rated SIB was not significant for either phase or for treatment as a whole. At doses above 5mg, mean scores deteriorated on balance, although two responders showed a marginal additional improvement. Olanzapine was well tolerated with one adverse event reported (somnolence) which was mild and transient. The present pilot study suggests that olanzapine can reduce stereotypic SIB. A larger trial is indicated. 相似文献
73.
74.
Pathology of Berkeley sickle cell mice: similarities and differences with human sickle cell disease 总被引:1,自引:1,他引:0 下载免费PDF全文
Because Berkeley sickle cell mice are used as an animal model for human sickle cell disease, we investigated the progression of the histopathology in these animals over 6 months and compared these findings to those published in humans with sickle cell disease. The murine study groups were composed of wild-type mixed C57Bl/6-SV129 (control) mice and sickle cell (SS) mice (alpha-/-, beta-/-, transgene +) of both sexes and between 1 and 6 months of age. SS mice were similar to humans with sickle cell disease in having erythrocytic sickling, vascular ectasia, intravascular hemolysis, exuberant hematopoiesis, cardiomegaly, glomerulosclerosis, visceral congestion, hemorrhages, multiorgan infarcts, pyknotic neurons, and progressive siderosis. Cerebral perfusion studies demonstrated increased blood-brain barrier permeability in SS mice. SS mice differed from humans with sickle cell disease in having splenomegaly, splenic hematopoiesis, more severe hepatic infarcts, less severe pulmonary manifestations, no significant vascular intimal hyperplasia, and only a trend toward vascular medial hypertrophy. Early retinal degeneration caused by a homozygous mutation (rd1) independent from that causing sickle hemoglobin was an incidental finding in some Berkeley mice. While our study reinforces the fundamental strength of this model, the notable differences warrant careful consideration when drawing parallels to human sickle cell disease. 相似文献
75.
76.
Kristin Becker Victoria Kermode Raymond L. Stallings Raymond P. Murphy Andrew J. Green John Hillery 《American journal of medical genetics. Part A》2002,112(2):217-220
We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24‐q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q. © 2002 Wiley‐Liss, Inc. 相似文献
77.
Red blood cell (RBC) adhesion to the vascular endothelium is increased in several pathologic conditions, including sickle cell disease and malaria. However, RBC interactions with components of the subendothelial matrix are not well-characterized. Under in vitro flow conditions of 1 dyne/cm2, washed RBCs bound to the purified adhesive molecules thrombospondin (TSP) and laminin. Sickle RBCs had the greatest adhesion of all tested RBCs. The adhesion of sickle RBCs to immobilized TSP was inhibited by the anionic polysaccharides high molecular weight (MW) dextran sulfate and chondroitin sulfate A, but not other anionic polysaccharides of similar structure and/or charge density. These data were consistent with the RBC adhesive molecule being a sulfated glycolipid. Therefore, TSP-binding lipids from normal and sickle RBCs were isolated and characterized. The TSP-binding lipid was purified by alkaline methanolysis, anion exchange chromatography and preparative thin layer chromatography (TLC). A homogeneous band on TLC was identified using a specific overlay TSP-binding assay. TSP binding to the purified lipid was stable to bass and neuraminidase treatment, labile to acid treatment, and was inhibited by high MW dextran sulfate, similar to that seen with intact RBCs binding to immobilized TSP under conditions of flow. In addition, soluble laminin bound to the purified RBC lipid. This acidic TSP- and laminin-binding lipid(s) isolated from both sickle and normal RBC membranes may contribute to erythrocyte interactions with the subendothelial matrix, hereby participating in the pathogenesis of vaso-occlusive diseases. 相似文献
78.
R. Comer S. Kennedy R. Rush M. Hillery L. Collum P. I. Condon S. A. Aftab F. Iqbal F. Kinsella F. Iqbal F. Kinsella S. A. Aftab J. Nolan V. W. Long C. Hurley L. M. T. Collum S. Mullaney M. O’Connor F. Mulcahy U. M. Donnelly K. Crofts G. O’Connor P. Kearney A. Collum D. Curtin S. Kennedy J. Crown P. Moriarty J. O’Reilly K. Coleman P. Logan D. Kilmartin H. Dempsey P. Kenna D. Mooney P. I. Condon F. A. Qazi K. Mirza S. Chen R. Comer S. Chen P. Tormey A. Moloney A. Mulvihill R. Bowell B. Lanigan M. O’Keeffe L. Cassidy M. McKibben G. Walters 《Irish journal of medical science》1998,167(1):47-50
79.
Purpose: To establish through gait analysis how changing the mass at the distal end of an in-house, custom-made trans-tibial dynamic elastic response prosthetic limb altered selected gait variables. Including; walking velocity, cadence, single support and hip power for a single amputee. Method: A before-after single-subject research design was used with two interventions. A 3-dimensional gait analysis was conducted to analyse the effect on selected gait variables. The mass and moment of inertia of the prosthesis were altered by inserting wedges of different materials. Results: Altering the mass had little effect on the cadence, single support or the velocity. Both the affected and intact limb hip pull-off power at terminal stance was increased, although the effect was greater for the affected limb than for the intact limb. The affected limb hip power at initial contact did not alter in a manner directly related to the mass. Conclusions: Altering the mass had an inconsistent effect on the gait parameters tested. The subject volunteered that he preferred the prosthesis of the middle mass. 相似文献
80.
Phase I study of magnesium pidolate in combination with hydroxycarbamide for children with sickle cell anaemia 总被引:2,自引:0,他引:2
Hankins JS Wynn LW Brugnara C Hillery CA Li CS Wang WC 《British journal of haematology》2008,140(1):80-85
In sickle cell anaemia, red cell dehydration increases intracellular HbS concentration and promotes sickling. Higher erythrocyte magnesium reduces water loss through negative regulation of membrane transporters. Hydroxycarbamide (also known as hydroxyurea) reduces sickling partly by increasing intracellular HbF. Combining drugs with distinct mechanisms could offer additive effects. A phase I trial combining oral magnesium pidolate and hydroxycarbamide was performed to estimate the maximum tolerated dose (MTD) and toxicity of magnesium. Cohorts of three children with HbSS, who were on a stable dose of hydroxycarbamide (median 28·5 mg/kg/d), received magnesium pidolate for 6 months beginning at 83 mg/kg/d. The dose was escalated by 50% for subsequent cohorts. Laboratory evaluations were performed at 0, 3, 6 and 9 months. Sixteen children (aged 4–12 years) participated. All four dose-limiting toxicities (grade III diarrhoea and abdominal pain) occurred within the first month of starting magnesium. Additionally, diarrhoea grades I ( n = 1) and II ( n = 3), and abdominal pain grade II ( n = 3) occurred. Hydroxycarbamide dose reduction or interruption was not required. The MTD for magnesium pidolate used in combination with hydroxycarbamide was 125 mg/kg/d. KCl co-transporter activity declined after 3 months of magnesium pidolate ( P = 0·02). A phase II study is needed to investigate the efficacy of this drug combination. 相似文献