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排序方式: 共有9909条查询结果,搜索用时 203 毫秒
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Stephanie H. Ameis John D. Haltigan Rachael E. Lyon Amanda Sawyer Pat Mirenda Connor M. Kerns Isabel M. Smith Tracy Vaillancourt Joanne Volden Charlotte Waddell Lonnie Zwaigenbaum Teresa Bennett Eric Duku Mayada Elsabbagh Stelios Georgiades Wendy J. Ungar Anat Zaidman-Zait Meng-Chuan Lai Peter Szatmari for the Pathways in ASD Study Team 《Journal of child psychology and psychiatry, and allied disciplines》2022,63(5):553-562
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Contactins are a group of cell adhesion molecules that are mainly expressed in the brain and play pivotal roles in the organization of axonal domains, axonal guidance, neuritogenesis, neuronal development, synapse formation and plasticity, axo-glia interactions and neural regeneration. Contactins comprise a family of six members. Their absence leads to malformed axons and impaired nerve conduction. Contactin mediated protein complex formation is critical for the organization of the axon in early central nervous system development. Mutations and differential expression of contactins have been identified in neuro-developmental or neurological disorders. Taken together, contactins are extensively studied in the context of nervous system development. This review summarizes the physiological roles of all six members of the Contactin family in neurodevelopment as well as their involvement in neurological/neurodevelopmental disorders. 相似文献
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The difficulty of diagnosing NCSE in clinical practice; external validation of the Salzburg criteria
Rianne J. M. Goselink Jeroen J. van Dillen Marjolein Aerts Johan Arends Charlotte van Asch Inge van der Linden Jaco Pasman Christiaan G. J. Saris Machiel Zwarts Nens van Alfen 《Epilepsia》2019,60(8):e88-e92
To improve the diagnostic accuracy of electroencephalography (EEG) criteria for nonconvulsive status epilepticus (NCSE), external validation of the recently proposed Salzburg criteria is paramount. We performed an external, retrospective, diagnostic accuracy study of the Salzburg criteria, using EEG recordings from patients with and without a clinical suspicion of having NCSE. Of the 191 EEG recordings, 12 (12%) was classified as an NCSE according to the reference standard. In the validation cohort, sensitivity was 67% and specificity was 89%. The positive predictive value was 47% and the negative predictive value was 95%. Ten patients in the control group (n = 93) were false positive, resulting in a specificity of 89.2%. The interrater agreement between the reference standards and between the scorers of the Salzburg criteria was moderate; disagreement occurred mainly in patients with an epileptic encephalopathy. The Salzburg criteria showed a lower diagnostic accuracy in our external validation study than in the original design, suggesting that they cannot replace the current practice of careful weighing of both clinical and EEG information on an individual basis. 相似文献
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Pia Klausen Bojan Kovacevic Anders Toxvrd Evangelos Kalaitzakis John Gsdal Karstensen Charlotte Vestrup Rift Carsten Palns Hansen Jan Storkholm Peter Vilmann Jane Preuss Hasselby 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2019,127(1):27-32
Intraductal papillary mucinous neoplasms (IPMNs) are precursor lesions of pancreatic ductal adenocarcinoma (PDAC). Current edition of WHO Classification of Tumors of the Digestive System recognizes four different subtypes (gastric, intestinal, pancreatobiliary, and oncocytic) and recommends analysis of mucin expression (MUC1, MUC2, MUC5AC, MUC6) as well as evaluation of architectural and cell differentiation patterns for correct classification. However, there is no consensus on MUC1 expression of IPMN‐lesions in the literature. Current recommendations are based on studies where antibodies against the core MUC1 protein or sialylated MUC1 (tumor associated MUC1), not the fully glycosylated MUC1 were used. We have recently reported that MUC1 is strongly expressed in both gastric and intestinal types IPMN specimens from the cystic wall, obtained by endoscopic ultrasound guided microbiopsy procedure. We have used a commercial MUC1 antibody, validated and recommended for diagnostic use, which recognizes fully glycosylated MUC1. Based on the above, we propose a revision of the WHO Classification, specifying that antibodies against tumor associated MUC1 should be used for IPMN subtyping. 相似文献
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Hand surgery involves the surgical treatment of hand conditions and encompasses small bone fixation, arthroscopy, joint replacement and reconstruction of tendon and nerves. Complications following surgery to the hand may be due to patient factors, surgical decisions and the complex anatomy of the hand. Here we describe the complications associated with common surgical interventions for both elective and traumatic injuries to the hand. Following hand surgery, a balance between immobilisation and early range of motion is offset by the risk of wound complications, non-union of fractures and tendon re-rupture with stiffness and reduced range of motion of the digits. Superficial infection is relatively common following procedures to the hand, however long-term sequelae are rare. Implant failure, subsidence, instability and reduced range of motion are seen following arthroplasty procedures. Complex regional pain syndrome offers a significant challenge following injury to the hand and specifically after surgical procedures. Surgeons should consider the risk of particular surgical techniques, other perioperative factors and patient factors that may contribute to the development of complications following hand surgery. Patients should be adequately counselled in order to make an informed decision regarding the management of their condition. 相似文献
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