Emotional detachment,gait ataxia,and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene

ABSTRACT

We report a patient with autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. He had compound heterozygous variants in SPG7 (A510V and 1552+1 G>T substitutions), mutation of which is classically associated with spastic paraparesis. Diffusion MRI demonstrated abnormalities in the cerebellar outflow tracts. Transcranial magnetic stimulation showed a prolonged cortical silent period representing exaggerated cortical inhibition, as previously described with pure cerebellar degeneration. The acquired cerebellar cognitive affective syndrome in association with specific anatomic and neurophysiological abnormalities in the cerebellum expand the spectrum of SPG7-related neurodegeneration and support a role for cerebellar output in socio-emotional behavior.     

Effect of reverse manual wheelchair propulsion on shoulder kinematics,kinetics and muscular activity in persons with paraplegia

Objective: Shoulder pain after spinal cord injury (SCI) is attributed to increased mobility demands on the arms and negatively impacts independence and quality of life. Repetitive superior and posterior shoulder joint forces produced during traditional wheelchair (WC) locomotion can result in subacromial impingement if unopposed, as with muscular fatigue or weakness. ROWHEELS^® (RW), geared rear wheels that produce forward WC movement with backward rim pulling, could alter these forces.

Design: Cross sectional.

Setting: Research laboratory at a rehabilitation hospital.

Participants: Ten manual WC users with paraplegia.

Outcome measures: Propulsion characteristics and right upper extremity/trunk kinematics and shoulder muscle activity were collected during ergometer propulsion: (1) self-selected free speed reverse propulsion with RW, (2) matched-speed reverse (rSW), and (3) forward propulsion (fSW) with instrumented Smartwheels (SW). Inverse dynamics using right-side SW rim kinetics and kinematics compared shoulder kinetics during rSW and fSW.

Results: Free propulsion velocity, cycle distance and cadence were similar during RW, rSW and fSW. Overall shoulder motion was similar except that peak shoulder extension was significantly reduced in both RW and rSW versus fSW. Anteriorly and inferiorly directed SW rim forces were decreased during rSW versus fSW propulsion, but posteriorly and superiorly directed rim forces were significantly greater. Superior and posterior shoulder joint forces and flexor, adductor, and external rotation moments were significantly less during rSW, without a significant difference in net shoulder forces and moments. Traditional propulsive-phase muscle activity was significantly reduced and recovery-phase muscle activity was increased during reverse propulsion.

Conclusion: These results suggest that reverse propulsion may redirect shoulder demands and prevent subacromial impingement, thereby preventing injury and preserving independent mobility for individuals with paraplegia.     

Thematic analysis of qualitative data: AMEE Guide No. 131

Abstract

Thematic analysis is a widely used, yet often misunderstood, method of qualitative data analysis. It is a useful and accessible tool for qualitative researchers, but confusion regarding the method’s philosophical underpinnings and imprecision in how it has been described have complicated its use and acceptance among researchers. In this Guide, we outline what thematic analysis is, positioning it in relation to other methods of qualitative analysis, and describe when it is appropriate to use the method under a variety of epistemological frameworks. We also provide a detailed definition of a theme, as this term is often misapplied. Next, we describe the most commonly used six-step framework for conducting thematic analysis, illustrating each step using examples from our own research. Finally, we discuss advantages and disadvantages of this method and alert researchers to pitfalls to avoid when using thematic analysis. We aim to highlight thematic analysis as a powerful and flexible method of qualitative analysis and to empower researchers at all levels of experience to conduct thematic analysis in rigorous and thoughtful way.     

Positive association between cerebral grey matter metabolism and dopamine D2/D3 receptor availability in healthy and schizophrenia subjects: An 18F-fluorodeoxyglucose and 18F-fallypride positron emission tomography study

Abstract

Objectives: Overlapping decreases in extrastriatal dopamine D₂/D₃-receptor availability and glucose metabolism have been reported in subjects with schizophrenia. It remains unknown whether these findings are physiologically related or coincidental.

Methods: To ascertain this, we used two consecutive ¹⁸F-fluorodeoxyglucose and ¹⁸F-fallypride positron emission tomography scans in 19 healthy and 25 unmedicated schizophrenia subjects. Matrices of correlations between ¹⁸F-fluorodeoxyglucose uptake and ¹⁸F-fallypride binding in voxels at the same xyz location and AFNI-generated regions of interest were evaluated in both diagnostic groups.

Results: ¹⁸F-fluorodeoxyglucose uptake and ¹⁸F-fallypride binding potential were predominantly positively correlated across the striatal and extrastriatal grey matter in both healthy and schizophrenia subjects. In comparison to healthy subjects, significantly weaker correlations in subjects with schizophrenia were confirmed in the right cingulate gyrus and thalamus, including the mediodorsal, lateral dorsal, anterior, and midline nuclei. Schizophrenia subjects showed decreased D₂/D₃-receptor availability in the hypothalamus, mamillary bodies, thalamus and several thalamic nuclei, and increased glucose uptake in three lobules of the cerebellar vermis.

Conclusions: Dopaminergic system may be involved in modulation of grey matter metabolism and neurometabolic coupling in both healthy human brain and psychopathology. Hyperdopaminergic state in untreated schizophrenia may at least partly account for the corresponding decreases in grey matter metabolism.     

Empowering future physicians to advocate for health equity: A blueprint for a longitudinal thread in undergraduate medical education

Abstract

In light of a growing body of evidence demonstrating pervasive health disparities, medical schools are increasingly incorporating educational programs on social medicine in undergraduate and graduate medical curricula. In 2015, we significantly restructured the cultural competency instruction for medical students at our institution, focusing on achieving greater health equity through caring for vulnerable populations and acknowledging and addressing bias and stereotyping. In order to facilitate educational sustainability while students were immersed in clinical care, a key element of our approach included extending teaching into the clerkship year. The resulting longitudinal thread, Health Equity and Social Justice, empowers future physicians with the knowledge and skills to work towards greater health equity. This article discusses the lessons learned in the implementation of this novel educational program. Our approach can serve as a model for other institutions considering similar instructional reform.     

Comparison of Patch Materials for Pulmonary Artery Reconstruction

Graphical abstract summarizing the overall results of our study comparing reintervention for a main or central branch pulmonary artery reconstruction site and various patch materials. Autologous pericardium was associate with the lowest reintervention and was free. Multivariable analysis demonstrated lack of superiority of homograft branch patch, which clearly has a much higher cost.

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Patterns of Use of Induction Therapy for T2N0 Esophageal Cancer

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