Hand-Arm Bimanual Intensive Training in Virtual Reality: A Feasibility Study.

OBJECTIVE: The aim of the study was to evaluate the feasibility of virtual reality (VR) software built using the core concepts of hand-arm bimanual intensive training (HABIT) for improving upper extremity motor function in children with cerebral palsy (CP). METHODS: Eight children with CP participated in a 10-day, 40-hour HABIT program. Half of the time custom VR software, HABIT-VR was used. The children's motor skills were assessed pre- and postintervention with the Assisting Hand Assessment, Box and Blocks Test, and Nine-Hole Peg Test. RESULTS: The children had significant and clinically relevant changes in the Assisting Hand Assessment and Box and Blocks Test; however, Nine-Hole Peg Test scores did not change with intervention. CONCLUSION: These data suggest that combining traditional HABIT strategies with HABIT-VR games improve upper extremity function and gross motor skills but not fine motor skills.

Elevated Intracranial Pressure Associated With Exogenous Hormonal Therapy Used for Gender Affirmation.

BACKGROUND: Addison disease, corticosteroid withdrawal, and taking synthetic growth hormone have been linked with development of intracranial hypertension, but there is still debate on whether administration of other exogenous hormones plays a role in precipitating elevated pressure. The growing use of hormonal therapy for gender affirmation provides an opportunity to explore this possibility. METHODS: All transgender patients taking exogenous hormones for female-to-male (FTM) and male-to-female (MTF) transitions who were diagnosed with intracranial hypertension at Massachusetts Eye and Ear Infirmary, Massachusetts General Hospital and Beth Israel Deaconess Medical Center between August 2014 and November 2018 were included in a retrospective review. Visual acuity, type, and dose of exogenous hormone, visual field testing, clinical exam, results of neuroimaging and lumbar puncture, and treatment modalities were catalogued and analyzed. RESULTS: Six transgender individuals were identified. Five were FTM, with an average hormone treatment time of 18.4 months, and one was MTF who had been treated with hormones for 4 years. The average age of all patients was 23.5 years. The average time between onset of symptoms and presentation was 5 months. Fifty percent of the patients reported pulse-synchronous tinnitus, 83% reported positional headache, 33% reported transient visual obscurations, and 16% reported diplopia. Lumbar punctures performed on 4 of the patients revealed elevated opening pressures and normal cerebrospinal fluid constituents. MRI findings consistent with elevated intracranial pressure (ICP) were present in the other 2 patients in whom lumbar puncture was unsuccessful. Four patients were treated with acetazolamide and one was treated with topiramate, with an average follow-up time of 15.7 months. All patients demonstrated bilateral optic disc swelling, and all maintained normal acuity and color vision. Performance on visual field testing was not significantly affected in any patient. CONCLUSIONS: This is the largest reported series to date of gender-transitioning patients with intracranial hypertension, including one novel MTF conversion. These observations warrant further investigation into the possible link of exogenous hormonal therapy and elevated ICP and any mechanisms or confounders underlying this potential association.

Clinical and radiologic approach to 'typical' versus antibody-related optic neuritis.

PURPOSE OF REVIEW: Optic neuritis is an autoimmune optic neuropathy that has been associated with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and more recently antimyelin oligodendrocyte glycoprotein (anti-MOG)-positive disorder. At initial presentation, it is often difficult to differentiate these entities given their significant overlap in clinical presentation and MRI findings. This review summarizes the distinguishing clinical and radiological features of MS, NMOSD, and anti-MOG disorders to help clinicians accurately diagnose and manage patients affected by these conditions. RECENT FINDINGS: Antiaquaporin-4 (AQP4) and more recently anti-MOG antibodies are both associated with central nervous system demyelinating diseases that often initially present with optic neuritis. Serologic testing now allows for a new classification of these overlapping conditions that can help to differentiate 'typical' optic neuritis that is often associated with MS from 'atypical' optic neuritis associated with NMOSD and anti-MOG-positive disorder. SUMMARY: Optic neuritis associated with MS, NMOSD, and anti-MOG-positive disease can have a similar clinical presentation. However, some clinical and radiologic findings can help clinicians to differentiate these entities so that they can be properly managed to optimize visual prognosis.

Ocular myasthenia gravis: an update on diagnosis and treatment.

PURPOSE OF REVIEW: Myasthenia gravis is an autoimmune disease that commonly affects the palpebral and extraocular muscles. Ocular myasthenia gravis (OMG) is a variant of the disease that is confined to the ocular muscles but frequently becomes generalized over time. The diagnosis of OMG is often challenging but both clinical and laboratory findings are helpful in confirming the clinical suspicion. This review provides an update on the diagnostic approach and therapeutic options for OMG. RECENT FINDINGS: Antimuscle-specific tyrosine kinase and LDL-related receptor-related protein 4 are newly available serologic testing for myasthenia gravis that can help in increasing the diagnostic sensitivity of OMG. They should be included to the diagnostic algorithm of OMG in appropriate clinical situations. SUMMARY: OMG remains a primarily clinical diagnosis, but recent advances in laboratory testing can improve the diagnostic accuracy and should be used in appropriate clinical settings. The mainstay of treatment for OMG has not significantly changed over the past years, but the increasing availability of steroid-sparing agents improved the disease control while minimizing steroid-induced complications.

Thyroid eye disease: what is new to know?

PURPOSE OF REVIEW: The pathophysiology of thyroid eye disease (TED) is still not fully understood. However, recently described risk factors and molecular findings have brought new insights into the mechanisms of TED and could lead to the emerging use of more targeted therapies. This article aims to review the clinical findings of TED, and the most recent advances in our understanding of the risk factors and therapeutic options for TED. RECENT FINDINGS: Smoking has been recently shown to have an impact on specific gene expression involved in several disease-related pathways, which seems to be reversible with smoking cessation. This finding further emphasizes the importance of smoking cessation in the prevention and treatment of TED. Selenium deficiency and high-serum cholesterol have been described to be potential independent risk factors for TED and their management could decrease the incidence and severity of TED. In terms of therapeutic options, immunomodulatory medications have shown some promising results for disease control in TED over the past years, but further randomized prospective studies with larger sample sizes are still needed to prove their efficacy. A new technique of P brachytherapy was shown to have quick therapeutic effects on TED without significant side effects and could be a promising therapy for selected cases of TED. SUMMARY: TED is one of the most common autoimmune inflammatory disorders of the orbit. Although its pathophysiology remains unclear, newly described genetic findings and risk factors could help in explaining its occurrence and guide future therapies. Immunosuppressant medications are increasingly used in the management of TED, but further studies are needed to confirm their effectiveness.

Epidemiological surveillance of amyotrophic lateral sclerosis in Saguenay region.

OBJECTIVES: The Neuromuscular Registry of Saguenay-Lac-Saint-Jean (SLSJ), Québec, Canada was established for epidemiological surveillance of neuromuscular disorders including amyotrophic lateral sclerosis (ALS). The objectives of this study are to analyze the ALS clinical characteristics of the SLSJ population and to determine the incidence rate over time by five year periods since 1985. METHODS: The Registry was validated by a review of the medical records maintained at the CSSS de Chicoutimi, the regional university hospital and, by the estimation of the number of hospitalizations for ALS patients using the Quebec Hospital inpatient database (MED-ECHO). RESULTS: A total of 109 patients were included. Overall, the clinical features of ALS observed in SLSJ population are similar to those described in the literature. We observed a significant increase in the incidence rate of ALS during the 2005-2009 period compared with the previous periods. This is due to a significant increase in the incidence rate among the ≥65 years old group, from 4.68 per 100,000 persons/year (CI 95% 2.88-6.48) during 1985-2004 period to 12.22 (CI 95% 7.43-17.02) during 2005-2009 period. CONCLUSION: Given the small size of the SLSJ population, a longer observation period will be needed to confirm a new steady state incidence of ALS in this region.

Health-related quality of life of heart failure and coronary artery disease patients improved during participation in disease management programs: a longitudinal observational study.

The objective of the study was to examine the burden of coronary artery disease (CAD) and heart failure (HF) on health-related quality of life (HRQOL) and the HRQOL trajectory among participants in a disease management (DM) program characterized by personalized models of education, counseling, and supportive contact. In all, 2,590 CAD and 3,182 HF patients were assessed at baseline and at 3, 6, 9, and 12 months post-enrollment. HRQOL was measured via a computerized dynamic test, whose core consisted of SF-8 items. HRQOL burden was assessed by comparing physical component summary (PCS) and mental component summary (MCS) scores to demographically adjusted US norms and to historical controls. Disease trajectories were assessed with change score analyses and by a categorization of participants as improving, stable, or deteriorating. Among the results, both groups showed between 1.7 to 2.6 times the likelihood of improving over worsening after a full year of DM participation in all measures. In contrast, historical controls experienced no significant HRQOL improvement or decline after 2 years of standard treatment. After 1 or 2 years they were more likely to decline than to improve in their PCS scores and were about as likely to improve as to worsen in their MCS scores. In conclusion, HF places a substantial burden on HRQOL, and the burden of CAD is also noticeable. While the study design does not allow causal interpretations, HRQOL significantly improved for both CAD and HF patients during DM program participation. This trend is in contrast to historic controls, where no significant HRQOL improvement occurred over time.