Clinical Reasoning: A 62-Year-Old Woman With Transient Vision Loss.

Transient visual loss (TVL) is a common complaint in the emergency department, with numerous possible etiologies. Prompt evaluation and management of TVL can potentially prevent progression to permanent visual loss. In this case, a 62-year-old woman presented with acute, painless, unilateral TVL. Two weeks before presentation, the patient reported bitemporal headaches and paresthesia of the distal extremities. A review of systems revealed chronic fatigue, cough, diffuse arthralgias, and decreased appetite for the previous 6 months. This case highlights the diagnostic approach to patients with TVL. Some common and rare causes associated with this clinical manifestation are briefly reviewed.

A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.

To the best of our knowledge, this is the first case to address episodic ataxia (EA) as a possible phenotypic feature of HECW2-related disorder. This single case study describes a 26-year-old female born at term with mild intellectual disability, neonatal hypotonia, and a history of febrile seizures who presented with paroxysmal events since the age of 2. These episodes include frequent falls due to imbalance, dilated pupils, vertigo, diaphoresis, nausea, vomiting, and nystagmus. Brain imaging was normal. A prolonged electroencephalogram (EEG) revealed interictal epileptiform discharges but failed to capture her clinical events. For several years, she was treated for presumed focal seizures with preserved awareness and trialed on adequate dosing of several antiepileptic medications without improvement. After 25 years, given the more prolonged nature of her episodes and the mild interictal cerebellar signs, empiric treatment with acetazolamide was initiated for a presumed diagnosis of EA. Acetazolamide treatment led to a dramatic reduction in event frequency and severity. The initial EA genetic panel was negative. Clinical exome sequence analysis revealed a novel pathogenic de novo missense variant in the HECW2 gene [c.3829 T > C;(p.Tyr1277His)], located in the HECT domain. HECW2 variants are associated with neurodevelopmental delay, hypotonia, and epilepsy. This study expands the genetic and clinical spectrum of HECW2-related disorder and adds EA to the phenotypic spectrum in affected individuals.

The effects of resistance exercise on obstructive sleep apnea severity and body water content in older adults: A randomized controlled trial.

OBJECTIVES/BACKGROUND: The prevalence of obstructive sleep apnea (OSA) in people over 70 years can reach up to 95%. Aerobic or combined exercise programs have been shown to impact positively on OSA severity. Resistance training changes leg fluid retention. We hypothesized that through this mechanism it may have an impact on the OSA severity in older adults. PATIENTS/METHODS: We evaluated changes in the respiratory event index (REI) of older adults with moderate-severe obstructive sleep apnea in a randomized, masked, controlled, parallel group trial. Participants between the age of 65 and 80 years with REI between 20 and 50 events/hour were assigned randomly to 12 weeks of resistance training or healthy life-style recommendations. Change in REI was the primary outcome. Muscle thickness, maximum strength, and physical function were secondary outcomes and body mass index (BMI) and body water content were assessed as mediators. RESULTS: Twenty-three subjects were included, 57% men, aged 71 ± 5 years, randomized to training (n = 12) and control intervention (n = 11). The baseline REI in the training and control groups were 30 ± 7/h and 29 ± 9/h; at follow-up, the delta REI were -3.6/hour (95% confidence interval -0.7 to -5.4) and 6.7/hour (5.2-8.6), respectively, with significant time × group interaction that remained significant after adjusting the generalized estimating equations model for delta BMI and delta body water content. CONCLUSIONS: Twelve weeks of resistance training in older adults significantly changed the respiratory event index and was well tolerated. Changes in body water content were slight but cannot be dismissed as contributing to REI reduction.

Effects of Hydroxychloroquine on endOthelial function in eLDerly with sleep apnea (HOLD): study protocol for a randomized clinical trial.

BACKGROUND: Sleep apnea and coronary artery disease are prevalent and relevant diseases. The mechanism by which sleep apnea leads to coronary artery disease remains unclear. Intermittent hypoxia, caused by sleep apnea, leads to inflammation and consequent endothelial dysfunction. Endothelial dysfunction precedes the development of atherosclerotic disease and the occurrence of cardiovascular events. Agents that potentially act to improve endothelial function can help prevent cardiovascular events. Patients using immunomodulators due to rheumatic diseases have a lower prevalence of cardiovascular diseases. However, the potential cardioprotective effect of these drugs in patients without autoimmune diseases is not clear. Hydroxychloroquine (HCQ) is an immunomodulator used to treat rheumatoid arthritis and systemic lupus erythematosus. In addition to its anti-inflammatory properties, HCQ reduces cholesterol and blood glucose levels and has antithrombotic effects. The drug is inexpensive and widely available. Adverse effects of HCQ are rare and occur more frequently with high doses. OBJECTIVE: In this randomized clinical trial, the effect of HCQ treatment on endothelial function will be tested in seniors with sleep apnea. METHODS: We will recruit participants over the age of 65 and with moderate-severe sleep apnea from an ongoing cohort. We chose to use this sample already evaluated for sleep apnea for reasons of convenience, but also because the elderly with sleep apnea are vulnerable to heart disease. Endothelial function will be assessed by examining flow-mediated dilation of the brachial artery, the gold standard method, considered an independent predictor of cardiovascular events in the general population and by peripheral arterial tonometry, the most recent and most easily obtained method. Hydroxychloroquine will be used at a dose of 400 mg/daily for 8 weeks. DISCUSSION: Our study aims to obtain evidence, albeit preliminary, of the efficacy of hydroxychloroquine in improving endothelial function and reducing cardiovascular risk markers. If the improvement occurs, we plan to design a randomized multicenter clinical trial to confirm the findings. TRIAL REGISTRATION: ClinicalTrials.gov NCT04161339 . Registered on November 2019.