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71.
JENNY DOWNS AMI BEBBINGTON PETER JACOBY ANNE‐MARIE WILLIAMS SOUMYA GHOSH WALTER E KAUFMANN HELEN LEONARD 《Developmental medicine and child neurology》2010,52(9):817-823
Aim We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. Method Video assessment in naturalistic settings was supplemented by parent‐reported data in a cross‐sectional study of 144 females with a mean age of 14 years 10 months (SD 7y 10mo; range 2y–31y 10mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. Results Approximately two‐thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C‐terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04–0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14–0.92). Factors that were associated with better hand function were lower Kerr scores for a 1‐point increase in score (OR 0.77; 95% CI 0.69–0.86), higher WeeFIM scores for a 1‐point increase in score (OR 1.08; 95% CI 1.04–1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02–73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. Interpretation Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy. 相似文献
72.
COLLEEN O’LEARY HELEN LEONARD JENNY BOURKE HEATHER D’ANTOINE ANNE BARTU CAROL BOWER 《Developmental medicine and child neurology》2013,55(3):271-277
Aim The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children. Method All mothers with an International Classification of Diseases (ICD) 9 and/or 10 alcohol‐related diagnosis, a proxy for alcohol use disorder, recorded on the Western Australian health, mental health, and drug and alcohol data sets were identified through the Western Australian Data Linkage Unit (n=5614 non‐Aboriginal; n=2912 Aboriginal). A comparison cohort of mothers without an alcohol‐related diagnosis was frequency matched on maternal age within maternal Aboriginal status and year of birth of their children. Linkage with the Western Australian Midwives Notification System (1983–2001) identified all births to these mothers (n=10 664 and 7907 respectively). Linkage to the Western Australian Intellectual Disability Database and Register of Developmental Anomalies identified cases of intellectual disability with no identified genetic origin (intellectual disability) (n=1487) and fetal alcohol syndrome (n=66). Odds ratios (ORs) and 95% confidence intervals (CIs) for intellectual disability were calculated using logistic regression incorporating generalized estimating equations and used to estimate population‐attributable fractions. Results At least 3.8% (95% CI 2.84–4.89%) of cases of intellectual disability could be avoided by preventing maternal alcohol use disorder: 1.3% (95% CI 0.81–1.86%) in non‐Aboriginal and 15.6% (95% CI 10.85–20.94%) in Aboriginal children. We observed a three‐fold increase in the adjusted odds of intellectual disability in children of mothers with an alcohol‐related diagnosis recorded during pregnancy (non‐Aboriginal OR 2.89, 95% CI 1.62–5.18; Aboriginal OR 3.12, 95% CI 2.13–4.56), with a net excess proportion of 3.7% and 5.5% respectively. One‐third (32%) of children diagnosed with fetal alcohol syndrome had intellectual disability. Interpretation Maternal alcohol use disorder is the leading known risk factor for intellectual disability with no identified genetic origin. 相似文献
73.
ELISABETH GIAUFRÉ MD BERNARD BRUGUEROLLE MD PhD CÉLINE RASTELLO MD MICHEL COQUET MD ANNE MARIE LOREC PharmD † 《Paediatric anaesthesia》1995,5(2):125-128
A new regimen for postoperative analgesia after thoracic surgery is proposed. Eight children received an interpleural infusion using bupivacaine 0.1% in a regimen from 0.5 ml·kg?1·h?1 up to 1 ml·kg?1·h?1, for 48 h according to the pain scores. The plasma levels after 24 h and 48 h were measured as well as the pleural level and in two patients the free fraction of plasma bupivacaine and the plasma PPX (a metabolite of bupivacaine) and one patient the orosomucoid (main plasma protein involved in bupivacaine protein binding) were also measured pre and postoperatively. The results shows the safety of such a regimen, for two days of postoperative analgesia. 相似文献
74.
75.
76.
biro a.l. (2012) Journal of Nursing Management 20, 1002–1011
Creating conditions for good nursing by attending to the spiritual Aim To note similarities, differences, and gaps in the literature on good nursing and spiritual care. Background Good nursing care is essential for meeting patient health needs. With growing recognition of the role of spirituality in health, understanding spiritual care as it relates to good nursing is important, especially as spiritual care has been recognized as the most neglected area of nursing care. Methods Nursing research, reports and discussion articles from a variety of countries were reviewed on the topics of good nursing, spiritual care and spirituality. Key issues A nurse’s spirituality and the nurse–patient relationship are integral to spiritual care and good nursing. Conclusions There are many commonalities between good nursing and spiritual care. Personal attributes of the nurse are described in similar terms in research on spiritual care and good nursing. Professional attributes common to good nursing and spiritual care are the nurse–patient relationship, assessment skills and communication skills. Implications for nursing management Good nursing through spiritual care is facilitated by personal spirituality, training in spiritual care and a culture that implements changes supportive of spiritual care. Further research is needed to address limitations in the scope of literature. 相似文献
Creating conditions for good nursing by attending to the spiritual Aim To note similarities, differences, and gaps in the literature on good nursing and spiritual care. Background Good nursing care is essential for meeting patient health needs. With growing recognition of the role of spirituality in health, understanding spiritual care as it relates to good nursing is important, especially as spiritual care has been recognized as the most neglected area of nursing care. Methods Nursing research, reports and discussion articles from a variety of countries were reviewed on the topics of good nursing, spiritual care and spirituality. Key issues A nurse’s spirituality and the nurse–patient relationship are integral to spiritual care and good nursing. Conclusions There are many commonalities between good nursing and spiritual care. Personal attributes of the nurse are described in similar terms in research on spiritual care and good nursing. Professional attributes common to good nursing and spiritual care are the nurse–patient relationship, assessment skills and communication skills. Implications for nursing management Good nursing through spiritual care is facilitated by personal spirituality, training in spiritual care and a culture that implements changes supportive of spiritual care. Further research is needed to address limitations in the scope of literature. 相似文献
77.
PHILIPPE MAURY M.D. EMILIE THOMSON M.D. ANNE ROLLIN M.D. MATHIEU BERRY M.D. THOMAS COGNET M.D. ALEXANDRE DUPARC M.D. PIERRE MONDOLY M.D. MATHIEU GAUTIER M.D. OLIVIER LAIREZ M.D. SIMON MÉJEAN M.D. PIERRE MASSABUAU M.D. CHRISTELLE CARDIN M.D. STÉPHANE COMBES M.D. JEAN‐PAUL ALBENQUE M.D. NICOLAS COMBES M.D. 《Pacing and clinical electrophysiology : PACE》2015,38(5):617-624
78.
HELMUT P. WEBER ARMIN HEINZE S. ENDERS LUTZ RUPRECHT. EBERHARD UNSOLD 《Pacing and clinical electrophysiology : PACE》1996,19(2):176-187
Safety and efficacy of mapping guided laser catheter ablation of the AV junction was tested in a canine model. A total of 43 laser pulses (continuous wave, Nd:YAG, 1,064 nm, 30 W, irradiated spot diameter 2.0–2.5 mm) were delivered in 15 dogs (2–5 per dog) via a novel laser catheter system. Pulses were selectively aimed at: (1) the AV node: (2) the His bundle; and (3) the bundle branches. Laser pulses of 9.7 ± 1.1 seconds (n = 31) produced reversible conduction disturbances in the targeted segment of the AV conduction system, while pulses of 28.6 ± 7.9 seconds (n = 9) resulted in chronic block. The dogs survived the procedure without complications. Follow-up was 6.5–10.5 months. Histopathologically, lesions showed clear-cut oval-shaped areas of fibrosis of 0.5–18.0 mm in diameter and 0.5–3.5 mm (transmural) in depth, depending on the irradiation time. Pervenous mapping guided laser catheter irradiation of the AV junction can produce AV block consistently and selectively in the targeted segment of the right ventricular conduction system in dogs. The method is safe and can be performed in a controllable manner by using the catheter system presented. 相似文献
79.
ANNE B. CURTIS MICHAEL MANSOUR STEPHAN E. FRIEDL TAKANOBU TOMARU GERALD R. BARBEAU † SIGURD J. NORMANN GEORGE S. ABELA 《Pacing and clinical electrophysiology : PACE》1994,17(3):337-348
Ablation of the AV junction is an accepted technique for the management of selected supraventricular tachyarrhythmias. Radiofrequency ablation appears to be safe and effective for AV junction ablation in most patients, but the need for firm tissue contact may make it less effective for ventricular tachycardia and certain ectopic atrial tachycardias. Laser energy can also be delivered through a catheter, and thus it may be an attractive alternative energy source for ablation. A new laser-electrode catheter was developed for modification of conduction through the AV node as a model for ablation of an arrhythmia substrate. A window for delivery of continuous-wave Nd:YAG laser energy was placed between the two electrodes of a bipolar electrode catheter. In vitro studies using a matrix of power versus time were performed to determine the energy that would create lesions of the appropriate size in vivo. Using this information, advanced AV block was successfully created in 16 of 17 dogs (94%) with the laser-electrode catheter. Advanced AV block was successfully created in all four dogs in the chronic study, and it persisted for 1-24 weeks of follow-up until sacrifice of the animals. Histologic examination demonstrated discrete thermal damage at the AV junction with no instances of septal perforation in the acute studies or progressive necrosis in chronically maintained dogs. Advanced AV block may be produced consistently and safely in dogs using a combined laser-electrode catheter. 相似文献
80.
K. VARADI H. ROTTENSTEINER S. VEJDA A. WEBER E.-M. MUCHITSCH P. L. TURECEK H. J. EHRLICH F. SCHEIFLINGER H. P. SCHWARZ 《Journal of thrombosis and haemostasis》2009,7(7):1134-1142
Summary. Background: von Willebrand factor (VWF) is composed of a series of multimers, the sizes of which are regulated by the plasma metalloprotease ADAMTS13. Objective: Proteolysis of human recombinant VWF (rVWF) by ADAMTS13 present in the plasma of different species typically used as preclinical animal models was investigated to evaluate the efficacy and safety of rVWF. Methods: Degradation of rVWF was studied in vitro under moderate denaturing conditions and was monitored by multimer analysis, residual collagen binding, and immunoblot analysis. In vivo cleavage was determined by administration of rVWF to cynomolgus monkeys, rabbits and VWF-deficient mice and subsequent analysis of plasma samples by immunoblot. Plasma ADAMTS13 levels were determined with a synthetic human VWF peptide (FRETS-VWF73). Results: From the animals tested, only rabbit plasma was as efficient as human plasma in proteolysing rVWF in vitro . Mouse plasma virtually failed to cleave rVWF. Administration of human rVWF resulted in ADAMTS13-specific cleavage products in rabbits and, to a lesser extent, in cynomolgus monkeys at various doses of rVWF. Virtually no cleavage occurred in mice. ADAMTS13 activity levels in rabbit and monkey plasma were similar to those in human plasma and were not significantly altered upon infusion of rVWF up to very high doses, indicating that rVWF did not lead to an exhaustion of endogenous ADAMTS13 in both species. Conclusions: The differences in susceptibility to cleavage of rVWF by different species need to be considered when interpreting the physiology of human rVWF from results of tests in animal models. 相似文献