Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case Report.

Objectives: The objective of this study was to expand the phenotypic spectrum of glutamine-fructose-6-phosphate transaminase 1 (GFPT1)-related congenital myasthenia syndrome (CMS). Methods: A 61-year-old man with agenesis of the left pectoralis major muscle presented with progressive muscle weakness for a decade that transiently improved after exertion. Results: His examination revealed proximal and distal muscle weakness in upper extremities and proximal muscle weakness in lower extremities. Muscle enzymes were elevated. An electromyogram revealed a myopathic pattern; however, a muscle biopsy of deltoid muscle and genetic testing for limb-girdle muscular dystrophies were nondiagnostic. A 3-Hz repetitive nerve stimulation of the spinal accessory nerve recording from trapezius muscle demonstrated a >20% drop in amplitude of the 5th compound motor action potential relative to 1st at both baseline and after 45-second exercise. Acetylcholine receptor binding, lipoprotein-related protein 4, muscle-specific kinase, and voltage-gated calcium channel P/Q antibodies were negative. Genetic testing targeting CMS revealed 2 likely pathogenic variants within GFPT1: novel c.7+2T>G (intron 1) that was predicted to result in a null allele and known c*22 C>A (exon 19) associated with reduced GFPT1 expression. His muscle strength dramatically improved after pyridostigmine initiation. Discussion: In addition to other reported neurodevelopmental abnormalities, pectoralis major muscle agenesis (or Poland syndrome) may be a clinical manifestation of GFPT1-related CMS.

Trauma Indicators in Spinal Cord Injury Rehabilitation Outcomes: A Retrospective Cohort Analysis of the National Trauma Data Bank and National Spinal Cord Injury Database.

OBJECTIVE: To investigate whether initial emergency department physiological measures and metrics of trauma severity predict functional outcomes and neurologic recovery in traumatic spinal cord injury. DESIGN: Retrospective analysis of a clinical database. SETTING: Merged multicenter data from the Spinal Cord Injury Model Systems (SCIMS) database and National Trauma Data Bank from 6 academic medical centers across the United States. PARTICIPANTS: Patients (N=319) admitted to SCIMS rehabilitation centers within 1 year of injury. The majority of patients were men (76.2%), with a mean age of 44 years (SD, 19y). At rehabilitation admission, the most common neurologic level of injury was low cervical (C5-C8, 39.5%) and ASIA impairment scale (AIS) was A (34.4%). MAIN OUTCOME MEASURES: Primary outcomes were FIM motor score at discharge from inpatient rehabilitation and change in FIM motor score between inpatient rehabilitation admission and discharge. We hypothesized that derangements in emergency department physiological measures, such as decreased blood pressure and oxygen saturation, as well as increased severity of trauma burden, would predict poorer functional outcomes. RESULTS: Linear regression analysis showed that neurologic level of injury and AIS predicted discharge FIM motor score. Systolic blood pressure, heart rate, oxygen saturation, need for assisted respiration, and presence of penetrating injury did not predict discharge motor FIM or FIM motor score improvement. CONCLUSIONS: Initial emergency department physiological parameters did not prognosticate functional outcomes in this cohort.

Ultrasound-guided glenohumeral joint injections for shoulder pain in ALS: A case series.

Introduction: Shoulder pain is a common secondary impairment for people living with ALS (PALS). Decreased range of motion (ROM) from weakness can lead to shoulder pathology, which can result in debilitating pain. Shoulder pain may limit PALS from participating in activities of daily living and may have a negative impact on their quality of life. This case series explores the efficacy of glenohumeral joint injections for the management of shoulder pain due to adhesive capsulitis in PALS. Methods: People living with ALS and shoulder pain were referred to sports medicine-certified physiatrists for diagnostic evaluation and management. They completed the Revised ALS Functional Rating Scale and a questionnaire asking about their pain levels and how it impacts sleep, function, and quality of life at baseline pre-injection, 1-week post-injection, 1 month post-injection, and 3 months post-injection. Results: We present five cases of PALS who were diagnosed with adhesive capsulitis and underwent glenohumeral joint injections. Though only one PALS reported complete symptom resolution, all had at least partial symptomatic improvement during the observation period. No complications were observed. Conclusions: People living with ALS require a comprehensive plan to manage shoulder pain. Glenohumeral joint injections are safe and effective for adhesive capsulitis in PALS, but alone may not completely resolve shoulder pain. Additional therapies to improve ROM and reduce pain should be considered.

Variation in 30-Day Readmission Rates from Inpatient Rehabilitation Facilities to Acute Care Hospitals.

OBJECTIVES: To quantify the rate of readmission from inpatient rehabilitation facilities (IRFs) to acute care hospitals (ACHs) during the first 30 days of rehabilitation stay. To measure variation in 30-day readmission rate across IRFs, and the extent that patient and facility characteristics contribute to this variation. DESIGN: Retrospective analysis of an administrative database. SETTING AND PARTICIPANTS: Adult IRF discharges from 944 US IRFs captured in the Uniform Data System for Medical Rehabilitation database between October 1, 2015 and December 31, 2017. METHODS: Multilevel logistic regression was used to calculate adjusted rates of readmission within 30 days of IRF admission and examine variation in IRF readmission rates, using patient and facility-level variables as predictors. RESULTS: There were a total of 104,303 ACH readmissions out of a total of 1,102,785 IRFs discharges. The range of 30-day readmission rates to ACHs was 0.0%‒28.9% (mean = 8.7%, standard deviation = 4.4%). The adjusted readmission rate variation narrowed to 2.8%‒17.5% (mean = 8.7%, standard deviation = 1.8%). Twelve patient-level and 3 facility-level factors were significantly associated with 30-day readmission from IRF to ACH. A total of 82.4% of the variance in 30-day readmission rate was attributable to the model predictors. CONCLUSIONS AND IMPLICATIONS: Fifteen patient and facility factors were significantly associated with 30-day readmission from IRF to ACH and explained the majority of readmission variance. Most of these factors are nonmodifiable from the IRF perspective. These findings highlight that adjusting for these factors is important when comparing readmission rates between IRFs.

Early Trauma Indicators and Rehabilitation Outcomes in Traumatic Spinal Cord Injury.

OBJECTIVES: To investigate the relationship between early trauma indicators and neurologic recovery after traumatic SCI using standardized outcome measures from the ISNCSCI examination and standardized functional outcome measures for rehabilitation populations. METHODS: This is a retrospective review of merged, prospectively collected, multicenter data from the Spinal Cord Injury Model Systems (SCIMS) database and institutional trauma databases from five academic medical centers across the United States. Functional status at inpatient rehabilitation discharge and change in severity and level of injury from initial SCI to inpatient rehabilitation discharge were analyzed to assess neurologic recovery for patients with traumatic SCI. Linear and logistic regression with multiple imputation were used for the analyses. RESULTS: A total of 209 patients were identified. Mean age at injury was 47.2 ± 18.9 years, 72.4% were male, 22.4% of patients had complete injuries at presentation to the emergency department (ED), and most patients were admitted with cervical SCI. Mean systolic blood pressure (SBP) was 124.1 ± 29.6 mm Hg, mean ED heart rate was 83.7 ± 19.9 bpm, mean O2 saturation was 96.8% ± 4.0%, and mean Glasgow Coma Scale (GCS) score was 13.3 ± 3.9. The average Injury Severity Score (ISS) in this population was 22.4. Linear regression analyses showed that rehabilitation discharge motor FIM was predicted by motor FIM on admission and ISS. Requiring ventilatory support on ED presentation was negatively associated with improvement of ASIA Impairment Scale (AIS) grade at rehabilitation discharge compared with AIS grade after initial injury. Emergency room physiologic measures (SBP, pulse, oxygen saturation) did not predict discharge motor FIM or improvement in AIS grade or neurological level of injury. CONCLUSION: Our study showed a positive association between discharge FIM and ISS and a negative association between ventilatory support at ED presentation and AIS improvement. The absence of any significant association between other physiologic or clinical variables at ED presentation with rehabilitation outcomes suggests important areas for future clinical research.

Inability to Perform the Repeated Chair Stand Task Predicts Fall-Related Injury in Older Primary Care Patients.

OBJECTIVE: The aim of the study was to examine whether the chair stand component of the Short Physical Performance Battery predicts fall-related injury among older adult primary care patients. DESIGN: A 2-yr longitudinal cohort study of 430 Boston-area primary care patients aged ≥65 yrs screened to be at risk for mobility decline was conducted. The three components of the Short Physical Performance Battery (balance time, gait speed, and chair stand time) were measured at baseline. Participants reported incidence of fall-related injuries quarterly for 2 yrs. Complementary log-log discrete time hazard models were constructed to examine the hazard of fall-related injury across Short Physical Performance Battery scores, adjusting for age, sex, race, Digit Symbol Substitution Test score, and fall history. RESULTS: Participants were 68% female and 83% white, with a mean (SD) age of 76.6 (7.0). A total of 137 (32%) reported a fall-related injury during the follow-up period. Overall, inability to perform the chair stand task was a significant predictor of fall-related injury (hazard ratio = 2.11, 95% confidence interval = 1.23-3.62, P = 0.01). Total Short Physical Performance Battery score, gait component score, and balance component score were not predictive of fall-related injury. CONCLUSIONS: Inability to perform the repeated chair stand task was associated with increased hazard of an injurious fall for 2 yrs among a cohort of older adult primary care patients.

Sex chromosome mosaicism and hybrid speciation among tiger swallowtail butterflies.

Hybrid speciation, or the formation of a daughter species due to interbreeding between two parental species, is a potentially important means of diversification, because it generates new forms from existing variation. However, factors responsible for the origin and maintenance of hybrid species are largely unknown. Here we show that the North American butterfly Papilio appalachiensis is a hybrid species, with genomic admixture from Papilio glaucus and Papilio canadensis. Papilio appalachiensis has a mosaic phenotype, which is hypothesized to be the result of combining sex-linked traits from P. glaucus and P. canadensis. We show that P. appalachiensis' Z-linked genes associated with a cooler thermal habitat were inherited from P. canadensis, whereas its W-linked mimicry and mitochondrial DNA were inherited from P. glaucus. Furthermore, genome-wide AFLP markers showed nearly equal contributions from each parental species in the origin of P. appalachiensis, indicating that it formed from a burst of hybridization between the parental species, with little subsequent backcrossing. However, analyses of genetic differentiation, clustering, and polymorphism based on molecular data also showed that P. appalachiensis is genetically distinct from both parental species. Population genetic simulations revealed P. appalachiensis to be much younger than the parental species, with unidirectional gene flow from P. glaucus and P. canadensis into P. appalachiensis. Finally, phylogenetic analyses, combined with ancestral state reconstruction, showed that the two traits that define P. appalachiensis' mosaic phenotype, obligatory pupal diapause and mimicry, evolved uniquely in P. canadensis and P. glaucus, respectively, and were then recombined through hybridization to form P. appalachiensis. These results suggest that natural selection and sex-linked traits may have played an important role in the origin and maintenance of P. appalachiensis as a hybrid species. In particular, ecological barriers associated with a steep thermal cline appear to maintain the distinct, mosaic genome of P. appalachiensis despite contact and occasional hybridization with both parental species.