Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

OBJECTIVE: The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded dramatically since first described in 1991. Hypoglycorrhachia and decreased erythrocyte 3-OMG uptake are confirmatory laboratory biomarkers. The objective is to expand previous observations regarding the diagnostic value of the uptake assay. METHODS: One hundred and nine suspected cases of Glut-1 DS were studied. All cases had a consistent clinical picture and hypoglycorrhachia. The uptake assay was decreased in 74 cases (group 1) and normal in 35 cases (group 2). We identified disease-causing mutations in 70 group 1 patients (95%) and one group 2 patient (3%). RESULTS: The cut-off for an abnormally low uptake value was increased from 60% to 74% with a corresponding sensitivity of 99% and specificity of 100%. The correlation between the uptake values for the time-curve and the kinetic concentration curve were strongly positive (R(2) = 0.85). Significant group differences were found in CSF glucose and lactate values, tone abnormalities, and degree of microcephaly. Group 2 patients were less affected in all domains. We also noted a significant correlation between the mean erythrocyte 3-OMG uptake and clinical severity (R(2) = 0.94). INTERPRETATION: These findings validate the erythrocyte glucose uptake assay as a confirmatory functional test for Glut1 DS and as a surrogate marker for GLUT1 haploinsufficiency.

Focal Peripheral Neuropathies Observed in Patients Diagnosed With COVID-19: A Case Series.

ABSTRACT: A growing number of studies have documented a wide variety of neurological manifestations associated with the novel SARS-CoV-2 (COVID-19). Of the available literature, cranial neuropathies and central nervous system disorders, such as encephalopathy and ischemic strokes, remain the predominant discussion. Limited investigations exist examining peripheral neuropathies of those with COVID-19. This case series discusses eight patients who tested positive for COVID-19 and presented with localized weakness after a prolonged course of mechanical ventilation (>21 days). We retrospectively reviewed all patients' charts who received electrodiagnostic evaluation between March and November 2020 in the outpatient clinic or in the acute care hospital at the JFK Medical Center/JFK Johnson Rehabilitation Institute and Saint Peter's University Hospital of New Jersey. A total of eight COVID-19-positive patients were identified to have a clinical presentation of localized weakness after a prolonged course of mechanical ventilation. All patients were subsequently found to have a focal peripheral neuropathy of varying severity that was confirmed by electrodiagnostic testing. Patient demographics, clinical, and electrodiagnostic findings were documented. The findings of local weakness and focal peripheral neuropathies after diagnosis of COVID-19 raise significant questions regarding underlying pathophysiology and overall prognosis associated with COVID-19.

Translating 2019 ACSM Cancer Exercise Recommendations for a Physiatric Practice: Derived Recommendations from an International Expert Panel.

In 2018, the American College of Sports Medicine (ACSM) reconvened an international, multi-disciplinary group of professionals to review pertinent published literature on exercise for people with cancer. The 2018 roundtable resulted in the publication of three articles in 2019. The three articles serve as an important update to the original ACSM Roundtable on Cancer, which convened in 2010. Although the focus of the three 2019 articles is on exercise, which is only one part of comprehensive cancer rehabilitation, the evidence presented in the 2019 ACSM articles has direct implications for physiatrists and other rehabilitation professionals who care for people with cancer. As such, the narrative review presented here has two primary objectives. First, we summarize the evidence within the three ACSM articles and interpret it within a familiar rehabilitation framework, namely the Dietz model of Cancer Rehabilitation, in order to facilitate implementation broadly within rehabilitation practice. Second, via expert consensus, we have tabulated relevant exercise recommendations for specific cancer populations at different points in the cancer care continuum and translated them into text, tables, and figures for ease of reference. Notably, the authors of this article are members of the Cancer Rehabilitation Physician Consortium (CRPC), a group of physicians who subspecialize in cancer rehabilitation medicine (CRM).

Physical Medicine and Rehabilitation Milestone Evaluation Project: Development of Standardized Rotation-Specific Milestone-Incorporated Faculty-of-Resident Evaluation Tools.

ABSTRACT: This tri-institutional study describes the outcomes of utilization of newly developed, standardized, rotation-specific evaluations for faculty assessment of resident achievement of the physical medicine and rehabilitation milestones. Thirty-six physical medicine and rehabilitation faculty, representing three distinct academic institutions, completed a prestudy survey on the adequacy of the rotation-generic resident evaluation tools historically in use at each institution. During the 2016-2017 academic year, faculty in all three institutions consistently used a new set of rotation-specific milestone-incorporated evaluation tools. The same faculty completed surveys assessing the new evaluation tools 6 and 12 months later. Ordinal logistic regression was used to compare survey results before and after implementation of the rotation-specific milestone-incorporated evaluation tools. Results demonstrate high tool satisfaction scores, and a statistically significant improvement in the adequacy and specificity of the new evaluation tools compared with the old ones. There was also a statistically significant improvement in both faculty understanding of the milestones and faculty ability to assess the milestones with use of the new tools compared with the old ones. The implementation of standardized physical medicine and rehabilitation rotation-specific milestone-incorporated faculty-of-resident evaluation tools across three institutions improves faculty ability to assess resident overall performance specifically related to resident achievement of the milestones in each rotation.

Challenges and Lessons Learned for Acute Inpatient Rehabilitation of Persons With COVID-19: Clinical Presentation, Assessment, Needs, and Services Utilization.

OBJECTIVE: The aim of the study was to present: (1) physiatric care delivery amid the SARS-CoV-2 pandemic, (2) challenges, (3) data from the first cohort of post-COVID-19 inpatient rehabilitation facility patients, and (4) lessons learned by a research consortium of New York and New Jersey rehabilitation institutions. DESIGN: For this clinical descriptive retrospective study, data were extracted from post-COVID-19 patient records treated at a research consortium of New York and New Jersey rehabilitation inpatient rehabilitation facilities (May 1-June 30, 2020) to characterize admission criteria, physical space, precautions, bed numbers, staffing, employee wellness, leadership, and family communication. For comparison, data from the Uniform Data System and eRehabData databases were analyzed. The research consortium of New York and New Jersey rehabilitation members discussed experiences and lessons learned. RESULTS: The COVID-19 patients (N = 320) were treated during the study period. Most patients were male, average age of 61.9 yrs, and 40.9% were White. The average acute care length of stay before inpatient rehabilitation facility admission was 24.5 days; mean length of stay at inpatient rehabilitation facilities was 15.2 days. The rehabilitation research consortium of New York and New Jersey rehabilitation institutions reported a greater proportion of COVID-19 patients discharged to home compared with prepandemic data. Some institutions reported higher changes in functional scores during rehabilitation admission, compared with prepandemic data. CONCLUSIONS: The COVID-19 pandemic acutely affected patient care and overall institutional operations. The research consortium of New York and New Jersey rehabilitation institutions responded dynamically to bed expansions/contractions, staff deployment, and innovations that facilitated safe and effective patient care.

Circadian control of neurogenesis.

The life-long addition of new neurons has been documented in many regions of the vertebrate and invertebrate brain, including the hippocampus of mammals (Altman and Das, 1965; Eriksson et al., 1998; Jacobs et al., 2000), song control nuclei of birds (Alvarez-Buylla et al., 1990), and olfactory pathway of rodents (Lois and Alvarez-Buylla, 1994), insects (Cayre et al., 1996) and crustaceans (Harzsch and Dawirs, 1996; Sandeman et al., 1998; Harzsch et al., 1999; Schmidt, 2001). The possibility of persistent neurogenesis in the neocortex of primates is also being widely discussed (Gould et al., 1999; Kornack and Rakic, 2001). In these systems, an effort is underway to understand the regulatory mechanisms that control the timing and rate of neurogenesis. Hormonal cycles (Rasika et al., 1994; Harrison et al., 2001), serotonin (Gould, 1999; Brezun and Daszuta, 2000; Beltz et al., 2001), physical activity (Van Praag et al., 1999) and living conditions (Kemperman and Gage, 1999; Sandeman and Sandeman, 2000) influence the rate of neuronal proliferation and survival in a variety of organisms, suggesting that mechanisms controlling life-long neurogenesis are conserved across a range of vertebrate and invertebrate species. The present article extends these findings by demonstrating circadian control of neurogenesis. Data show a diurnal rhythm of neurogenesis among the olfactory projection neurons in the crustacean brain, with peak proliferation during the hours surrounding dusk, the most active period for lobsters. These data raise the possibility that light-controlled rhythms are a primary regulator of neuronal proliferation, and that previously-demonstrated hormonal and activity-driven influences over neurogenesis may be secondary events in a complex circadian control pathway.