Orientation and mobility outcome measures

Despite orientation and mobility (O&M) being a significant factor determining quality of life of people with low vision or blindness, there are no gold standard measures or agreement on how to measure O&M performance. In the first part of this systematic review, an inventory of O&M outcome measures used by recent studies to assess the performance of orientation and/or mobility of adults with vision impairment (low vision and blindness) is presented. A wide variety of O&M outcome measures have been implemented in different fields of study, such as epidemiologic research and interventional studies evaluating training, assistive technology, vision rehabilitation and vision restoration. The most frequent aspect of outcome measures is efficiency such as time, distance, speed and percentage of preferred walking speed, followed by obstacle contacts and avoidance, and dis/orientation and veering. Other less commonly used aspects are target identification, safety and social interaction and self-reported outcome measures. Some studies employ sophisticated equipment to capture and analyse O&M performance in a laboratory setting, while others carry out their assessment in real-world indoor or outdoor environments. In the second part of this review, the appropriateness of implementing the identified outcome measures to assess O&M performance in clinical and functional O&M practice is evaluated. Nearly a half of these outcome measures meet all four criteria of face validity (either clinical or functional), responsiveness, reliability and feasibility and have the potential to be implemented in clinical or functional O&M practice. The findings of this review confirm the complicated and dynamic nature of O&M. Multiple measures are required in any evaluation of O&M performance to facilitate holistic assessment of O&M abilities and limitations of each individual.     

超声在胃常见疾病及胃功能诊断中的应用

借助口服超声助显剂，胃壁及其病变得以清晰显示。本文就经腹超声诊断胃常见疾病和胃排空功能评估方面的一些体会与大家分享，希望经腹胃超声这种无创、实时的检查方式能更普及，使更多患者受益。     

A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family

We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14‐year‐old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations.     

Specific alterations in plasma proteins during depressed,manic, and euthymic states of bipolar disorder

Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2% of the general population of different European countries. Unfortunately, there is no objective laboratory-based test to aid BD diagnosis or monitor its progression, and little is known about the molecular basis of BD. Here, we performed a comparative proteomic study to identify differentially expressed plasma proteins in various BD mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched healthy control subjects were recruited. Seven high-abundance proteins were immunodepleted in plasma samples from the 4 experimental groups, which were then subjected to proteome-wide expression profiling by two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem mass spectrometry. Proteomic results were validated by immunoblotting and bioinformatically analyzed using MetaCore. From a total of 32 proteins identified with 1.5-fold changes in expression compared with healthy controls, 16 proteins were perturbed in BD independent of mood state, while 16 proteins were specifically associated with particular BD mood states. Two mood-independent differential proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be associated with early perturbations in lipid metabolism. Moreover, down-regulation of one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be associated with early perturbations in lipid metabolism that are independent of mood state, while CA-1 may be involved in the pathophysiology of depressive episodes.     

Patients Requiring Conversion to General Anesthesia during Endovascular Therapy Have Worse Outcomes: A Post Hoc Analysis of Data from the SAGA Collaboration

BACKGROUND AND PURPOSE:Endovascular therapy for acute ischemic stroke is often performed with the patient under conscious sedation. Emergent conversion from conscious sedation to general anesthesia is sometimes necessary. The aim of this study was to assess the functional outcome in converted patients compared with patients who remained in conscious sedation and to identify predictors associated with the risk of conversion.MATERIALS AND METHODS:Data from 368 patients, included in 3 trials randomizing between conscious sedation and general anesthesia before endovascular therapy (SIESTA, ANSTROKE, and GOLIATH) constituted the study cohort. Twenty-one (11%) of 185 patients randomized to conscious sedation were emergently converted to general anesthesia.RESULTS:Absence of hyperlipidemia seemed to be the strongest predictor of conversion to general anesthesia, albeit a weak predictor (area under curve = 0.62). Sex, hypertension, diabetes, smoking status, atrial fibrillation, blood pressure, size of the infarct, and level and side of the occlusion were not significantly associated with conversion to general anesthesia. Neither age (mean age, 71.3   ± 13.8 years for conscious sedation versus 71.6  ± 12.3 years for converters, P = .58) nor severity of stroke (mean NIHSS score, 17 ± 4 versus 18 ± 4, respectively, P = .27) were significantly different between converters and those who tolerated conscious sedation. The converters had significantly worse outcome with a common odds ratio of 2.67 (P = .015) for a shift toward a higher mRS score compared with the patients remaining in the conscious sedation group.CONCLUSIONS:Patients undergoing conversion had significantly worse outcome compared with patients remaining in conscious sedation. No factor was identified that predicted conversion from conscious sedation to general anesthesia.

Five studies published in 2015 proved the efficacy of endovascular therapy (EVT) for acute ischemic stroke caused by a large-vessel occlusion.¹ However, numerous questions remain regarding how to best deliver this treatment, including evaluation of the optimal thrombectomy technique,² the most effective method of patient triage,³ or whether EVT should be performed with the patient under either general anesthesia (GA) or conscious sedation (CS).Observational studies have suggested that EVT with the patient under CS is associated with better neurologic outcome and lower mortality compared with GA.⁴ However, 3 randomized trials reported similar outcomes between CS and GA.^5-7 Proposed benefits of CS include stable hemodynamics, clinical monitoring, and a potentially shorter procedure. The disadvantages are an unprotected airway and patient movement, which sometimes may require emergent conversion to GA. Patients who need conversion might be sicker (larger strokes, more medical complications), but the conversion procedure itself may also have a potentially deleterious influence on outcome due to the emergent anesthetic induction, associated hypotension, and added time delay before reperfusion.Although most patients can be treated under the less complex CS, it is of interest to identify factors that can predict the risk of conversion and hence the requirement for GA. We undertook a detailed analysis of the patients who were converted from CS to GA in our individual patient data base from the 3 randomized trials to examine the outcome of the converted patients compared with patients who remained in CS. We also aimed to identify possible predictors associated with a need for GA with EVT.