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1.
Sex chromosome trisomies (SCT) are among the most common chromosomal duplications in humans. Due to recent technological advances in non-invasive screening, SCT can already be detected during pregnancy. This calls for more knowledge about the development of (young) children with SCT. This review focused on neurocognitive functioning of children with SCT between 0 and 18 years, on domains of global intellectual functioning, language, executive functioning, and social cognition, in order to identify targets that could benefit from early treatment. Online databases were used to identify peer-reviewed scientific articles using specific search terms. In total 18 studies were included. When applicable, effect sizes were calculated to indicate clinical significance. Results of the reviewed studies show that although traditionally, the focus has been on language and intelligence (IQ) in this population, recent studies suggest that executive functioning and social cognition may also be significantly affected already in childhood. These findings suggest that neuropsychological screening of children diagnosed with SCT should be extended, to also include executive functioning and social cognition. Knowledge about these neurocognitive risks is important to improve clinical care and help identify targets for early support and intervention programs to accommodate for the needs of individuals with SCT. 相似文献
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Hanna Lee Mary K. Tan Andrew T. Yan Paul Angaran Paul Dorian Claudia Bucci Jean C. Gregoire Alan D. Bell Martin S. Green Peter L. Gross Allan Skanes Charles R. Kerr L. Brent Mitchell Jafna L. Cox Vidal Essebag Brett Heilbron Krishnan Ramanathan Carl Fournier Shaun G. Goodman 《The Canadian journal of cardiology》2019,35(2):160-168
Background
Physicians treating nonvalvular atrial fibrillation (AF) assess stroke and bleeding risks when deciding on anticoagulation. The agreement between empirical and physician-estimated risks is unclear. Furthermore, the association between patient and physician sex and anticoagulation decision-making is uncertain.Methods
We pooled data from 2 national primary care physician chart audit databases of patients with AF (Facilitating Review and Education to Optimize Stroke Prevention in Atrial Fibrillation and Coordinated National Network to Engage Physicians in the Care and Treatment of Patients with Atrial Fibrillation Chart Audit) with a combined 1035 physicians (133 female, 902 male) and 10,927 patients (4567 female and 6360 male).Results
Male physicians underestimated stroke risk in female patients and overestimated risk in male patients. Female physicians estimated stroke risk well in female patients but underestimated the risk in male patients. Risk of bleeding was underestimated in all. Despite differences in risk assessment by physician and patient sex, > 90% of patients received anticoagulation across all subgroups. There was modest agreement between physician estimated and calculated (ie, CHADS2 score) stroke risk: Kappa scores were 0.41 (0.35-0.47) for female physicians and 0.34 (0.32-0.36) for male physicians.Conclusions
Our study is the first to examine the association between patient and physician sex influences and stroke and bleeding risk estimation in AF. Although there were differences in agreement between physician estimated stroke risk and calculated CHADS2 scores, these differences were small and unlikely to affect clinical practice; further, despite any perceived differences in the accuracy of risk assessment by sex, most patients received anticoagulation. 相似文献5.
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Elizabeth C Frenzel Georgia A Thomas Hend A Hanna 《Infection control and hospital epidemiology》2006,27(5):512-514
At the time of hire, 4059 of 6522 healthcare workers required a 2-step tuberculin skin test; 114 workers (2.8%) demonstrated a boosted reaction after the second step. Boosted reactions were significantly associated with male sex and older age. A verbal history of previous tuberculin skin test results was not a reliable indicator of baseline tuberculin skin test status at the time of hire. 相似文献
7.
Sanjay Sisodiya J Helen Cross Ingmar Blümcke David Chadwick John Craig Peter B Crino Paul Debenham Norman Delanty Frances Elmslie Mark Gardiner Jeffrey Golden David Goldstein David A Greenberg Renzo Guerrini Michael Hanna John Harris Paul Harrison Michael R Johnson George Kirov Dimitri M Kullman Andrew Makoff Carla Marini Rima Nabbout Lina Nashef Jeffrey L Noebels Ruth Ottman Munir Pirmohamed Asla Pitk?nen Ingrid Scheffer Simon Shorvon Graeme Sills Nicholas Wood Sameer Zuberi 《Epileptic Disord》2007,9(2):194-236
The Sixth Epilepsy Research Foundation workshop, held in Oxford in March 2006, brought together basic scientists, geneticists, epidemiologists, statisticians, pharmacologists and clinicians to consider progress, issues and strategies for harnessing genetics to improve the understanding and treatment of the epilepsies. General principles were considered, including the fundamental importance of clear study design, adequate patient numbers, defi ned phenotypes, robust statistical data handling, and follow-up of genetic discoveries. Topics where some progress had been made were considered including chromosomal abnormalities, neurodevelopment, hippocampal sclerosis, juvenile myoclonic epilepsy, focal cortical dysplasia and pharmacogenetics. The ethical aspects of epilepsy genetics were reviewed. Principles and limitations of collaboration were discussed. Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy. 相似文献
8.
Hisham Abdel Ghani Ahmed El-Naggar Mohamad Hegazy Atef Hanna Yehia Tarraf Samia Temtamy 《Journal of children's orthopaedics》2007,1(5):313-322
Purpose Congenital clasped thumb is a deformity that is associated with heterogeneous congenital anomalies and it has been addressed
in many congenital syndromes. The aim of this study was to diagnose and evaluate cases of clasped thumb as regards the associated
congenital anomalies and syndromes, and evaluation of the results of treatment of such cases.
Methods A prospective study on 40 patients with 73 clasped thumbs was done. All the patients’ data regarding their personal, family,
pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical and radiological examination
and genetic assessment. The cases were classified using the Tsuyuguchi et al. (J Hand Surg [Am] 10:613–618, 1985) classification into three types. Conservative treatment was adopted in ten hands, and surgical treatment was performed for
28 hands in 17 patients, with an average follow-up of 26 months.
Results Positive consanguinity was recorded in 57.5% of cases. Associated anomalies were recorded in 77.5% of cases. Type I was the
most common one, followed by type III and then type II. Conservative treatment is effective in type I cases when presented
early, and all patients were satisfied with the results of surgical treatment.
Conclusions We reported associated anomalies which are to our knowledge have not mentioned before in the literature which include; congenital
blindness, radial deviation of the index finger and ventricular septal defect. We found that 68% of the patients had associated
syndromes, and this has not been mentioned before. In this study, we found that there were no difference between type II and
type III clasped thumb as regards the pathological findings, severity, the operative procedures, the treatment protocol and
the operative results. Properly planned treatment gives satisfactory results. 相似文献
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Ma?gorzata Pawelec-Wojtalik Ludwig Karl von Segesser Ma Liang Dorota Bukowska 《European journal of cardio-thoracic surgery》2005,27(4):714-716
Growing experience in interventional cardiology leads to the use of large diameter of vascular equipment. In some instances, the so-called hybrid procedures are performed. After performing the interventional procedure, the opening in ventricular wall is closed surgically. Our intention was to check if the MVSDO can be used to close the perforation in the heart after the interventional cardiology procedure performed through the left ventricular (LV) free wall. In three pigs under general anesthesia, the heart was exposed through a small substernal incision. The LV was punctured and an 18F sheath was introduced into the LV. A 14 mm MVSDO was inserted through the 10F Delivery System. Using both the echocardiographic and angiographic guidance, the MVSDO was placed on the LV wall to close the opening in the LV. Time and volume of bleeding was recorded. In all cases the occluder was successfully placed closing the opening, bleeding observed after deployment of occluder lasted for approximately 2 min. We think MVSD occluder can be used to close the LV free wall perforation after hybrid interventional cardiac procedure. Early bleeding through MVSDO might be resolved by the manufacturing of new occluder with better sealing properties. 相似文献