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Ronald L. Thibert Anna M. Larson David T. Hsieh Annabel R. Raby Elizabeth A. Thiele 《Pediatric neurology》2013,48(4):271-279
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched δ and rhythmic θ activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome. 相似文献
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Tournoux FB Manzke R Chan RC Solis J Chen-Tournoux AA Gérard O Nandigam V Allain P Reddy V Ruskin JN Weyman AE Picard MH Singh JP 《Pacing and clinical electrophysiology : PACE》2007,30(8):1021-1022
Multiple imaging modalities are required in patients receiving cardiac resynchronization therapy. We have developed a strategy to integrate echocardiographic and angiographic information to facilitate left ventricle (LV) lead position. Full three-dimensional LV-volumes (3DLVV) and dyssynchrony maps were acquired before and after resynchronization. At the time of device implantation, 3D-rotational coronary venous angiography was performed. 3D-models of the veins were then integrated with the pre- and post-3DLVV. In the case displayed, prior to implantation, the lateral wall was delayed compared to the septum. The LV lead was positioned into the vein over the most delayed region, resulting in improved LV synchrony. 相似文献
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Ravi Krupa Killen Annabel Alexander Angus Bell-Davies Frances Biganiro Sebintu James Brazeal Aurelia Butoyi Jean Marie Vianney Diaz Fabio Edgardo Drabile Romeo Fanny Marvin Fernie Lucila Gunawardana Shannon Hartley Emma Hawu Yolisa N. Hendron Holly Joseph Stephanie Alcine Lamahewage Ananda Mahagedera Ruwantha Manirambona Emery Morisho Benjamin Kitambala Muchunu Patrick Niyukuri Alliance Ntaganda Edmond Orliacq Francisco Orliacq Josefina Wobenjo Adili Young Pablo Lakhoo Kokila Ford Kathryn 《World journal of surgery》2022,46(3):476-485
World Journal of Surgery - The Global Initiative for Children's Surgery (GICS) group produced the Optimal Resources for Children’s Surgery (OReCS) document in 2019, listing standards of... 相似文献
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James L Januzzi W Frank Peacock Alan S Maisel Claudia U Chae Robert L Jesse Aaron L Baggish Michelle O'Donoghue Rahul Sakhuja Annabel A Chen Roland R J van Kimmenade Kent B Lewandrowski Donald M Lloyd-Jones Alan H B Wu 《Journal of the American College of Cardiology》2007,50(7):607-613
OBJECTIVES: The aim of this study was to examine the value of measurement of the interleukin-1 receptor family member ST2 in patients with dyspnea. BACKGROUND: Concentrations of ST2 have been reported to be elevated in patients with heart failure (HF). METHODS: Five hundred ninety-three dyspneic patients with and without acute destabilized HF presenting to an urban emergency department were evaluated with measurements of ST2 concentrations. Independent predictors of death at 1 year were identified. RESULTS: Concentrations of ST2 were higher among those with acute HF compared with those without (0.50 vs. 0.15 ng/ml; p < 0.001), although amino-terminal pro-brain natriuretic peptide (NT-proBNP) was superior to ST2 for diagnosis of acute HF. Median concentrations of ST2 at presentation to the emergency department were higher among decedents than survivors at 1 year (1.08 vs. 0.18 ng/ml; p < 0.001), and in multivariable analyses, an ST2 concentration > or =0.20 ng/ml strongly predicted death at 1 year in dyspneic patients as a whole (HR = 5.6, 95% confidence interval [CI] 2.2 to 14.2; p < 0.001) as well as those with acute HF (hazard ratio [HR] = 9.3, 95% CI 1.3 to 17.8; p = 0.03). This risk associated with an elevated ST2 in dyspneic patients with and without HF appeared early and was sustained at 1 year after presentation (log-rank p value <0.001). A multi-marker approach with both ST2 and NT-proBNP levels identified subjects with the highest risk for death. CONCLUSIONS: Among dyspneic patients with and without acute HF, ST2 concentrations are strongly predictive of mortality at 1 year and might be useful for prognostication when used alone or together with NT-proBNP. 相似文献
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Many publications are available on the topic of compliance with infection prevention and control in oral health‐care facilities all over the world. The approaches of developing and developed countries show wide variation, but the principles of infection prevention and control are the same globally. This study is a systematic review and global perspective of the available literature on infection prevention and control in oral health‐care facilities. Nine focus areas on compliance with infection‐control measures were investigated: knowledge of infectious occupational hazards; personal hygiene and care of hands; correct application of personal protective equipment; use of environmental barriers and disposable items; sterilisation (recirculation) of instruments and handpieces; disinfection (surfaces) and housekeeping; management of waste disposal; quality control of dental unit waterlines, biofilms and water; and some special considerations. Various international studies from developed countries have reported highly scientific evidence‐based information. In developed countries, the resources for infection prevention and control are freely available, which is not the case in developing countries. The studies in developing countries also indicate serious shortcomings with regard to infection prevention and control knowledge and education in oral health‐care facilities. This review highlights the fact that availability of resources will always be a challenge, but more so in developing countries. This presents unique challenges and the opportunity for innovative thinking to promote infection prevention and control. 相似文献