ObjectiveSystematically review the abnormalities in event related potential (ERP) recorded in Rett Syndrome (RTT) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (MECP2 mutations).MethodsPubmed, ISI Web of Knowledge and BIORXIV were searched for the relevant articles according to PRISMA standards.ResultsERP components are generally delayed across all sensory modalities both in RTT patients and its animal model, while findings on ERPs amplitude strongly depend on stimulus properties and presentation rate. Studies on RTT animal models uncovered the abnormalities in the excitatory and inhibitory transmission as critical mechanisms underlying the ERPs changes, but showed that even similar ERP alterations in auditory and visual domains have a diverse neural basis. A range of novel approaches has been developed in animal studies bringing along the meaningful neurophysiological interpretation of ERP measures in RTT patients.ConclusionsWhile there is a clear evidence for sensory ERPs abnormalities in RTT, to further advance the field there is a need in a large-scale ERP studies with the functionally-relevant experimental paradigms.SignificanceThe review provides insights into domain-specific neural basis of the ERP abnormalities and promotes clinical application of the ERP measures as the non-invasive functional biomarkers of RTT pathophysiology. 相似文献
Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS.We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97°) and right convex thoracolumbar curve (T9-L3, 88°). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33° while the thoracolumbar one to 26° and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program.Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones. 相似文献
Introduction: Surgery in patients with head and neck cancers is frequently complicated by multiple stages of procedure that includes significant surgical removal of all or part of an organ with cancer, tissue reconstruction, and extensive neck dissection. Postoperative wound infections, termed ‘surgical site infections’ (SSIs) are a significant impediment to head-and-neck cancer surgery and recovery, and need to be addressed.
Areas covered: Approximately 10–45% of patients undergoing head-and-neck cancers surgery develop SSIs. SSIs can lead to delayed wound healing, increased morbidity and mortality as well as costs. Consequently, SSIs need to be avoided where possible, as even the surgery itself impacts on patients’ subsequent activities and their quality of life, which is exacerbated by SSIs. Several risk factors for SSIs need to be considered to reduce future rates, and care is also needed in the selection and duration of antibiotic prophylaxis.
Expert commentary: Head and neck surgeons should give personalized care especially to patients at high risk of SSIs. Such patients include those who have had chemoradiotherapy and need reconstructive surgery, and patients from lower and middle-income countries and from poorer communities in high income countries, who often have high levels of co-morbidity because of resource constraints. 相似文献
Approximately 36 400 cardiac and 23 100 thoracic operations are carried out in the United Kingdom between 2006 and 2015. National Health Service (NHS) resolution, as known as the NHS litigation authority, is one of the essential bodies of the Department of Health. Its purpose is to provide NHS expertise to resolve concerns fair and square share learning for improvement. We aim to evaluate and increase awareness of medicolegal cases in cardiothoracic surgery. Total numbers and details of claims coded by NHS resolution in cardiothoracic surgery from 2004 to 2017 were requested under the Freedom of Information Act 2000. The data provided in successful claims is further breakdown into damages paid to the claimant, defence cost, claimant cost paid and the sum of the three. In contrast, unsuccessful claims only include the defence cost. Moreover, data provided also includes further analysis of primary causes and primary injuries for Claims Closed/Settled with damages paid. There were 753 claims recorded from 2004 to 2017, of which 415 (55.11%) were successful. The number of claims has been steadily increasing since 2004, with two significant raises from 2009/10 to 2010/11 (37‐55, 48.64% raise) and 2012/13 to 2013/14 (49‐69, 40.82% raise). The mean successful claim ratio was 69.58% (range, 47.56%‐ 83.33%) There is also a steady increase in the successful ratio from 2004 to 2017. In summary, this is the first study published in relation to litigation claims on cardiothoracic surgery in the United Kingdom. The results have provided insight on claims made against cardiothoracic surgery. 相似文献
Influenza vaccination is considered the most valuable means to prevent and control seasonal influenza infections, which causes various clinical symptoms, ranging from mild cough and fever to even death. Among various influenza vaccine types, the inactivated subunit type is known to provide improved safety with reduced reactogenicity. However, there are some drawbacks associated with inactivated subunit type vaccines, with the main ones being its low immunogenicity and the induction of Th2-biased immune responses. In this study, we investigated the role of a single-stranded RNA (ssRNA) derived from the intergenic region in the internal ribosome entry site of the Cricket paralysis virus as an adjuvant rather than the universal vaccine for a seasonal inactivated subunit influenza vaccine. The ssRNA adjuvant stimulated not only well-balanced cellular (indicated by IgG2a, IFN-γ, IL-2, and TNF-α) and humoral (indicated by IgG1 and IL-4) immune responses but also a mucosal immune response (indicated by IgA), a key protector against respiratory virus infections. It also increases the HI titer, the surrogate marker of influenza vaccine efficacy. Furthermore, ssRNA adjuvant confers cross-protective immune responses against heterologous influenza virus infection while promoting enhanced viral clearance. Moreover, ssRNA adjuvant increases the number of memory CD4+ and CD8+ T cells, which can be expected to induce long-term immune responses. Therefore, this ssRNA-adjuvanted seasonal inactivated subunit influenza vaccine might be the best influenza vaccine generating robust humoral and cellular immune responses and conferring cross-protective and long-term immunity. 相似文献