Citations

Abstractα-synucleinopathies are a complex group of progressive neurodegenerative disorders with an increasingly recognized long prodromal period, during which sleep dysfunction is a hallmark. Sleep disorders during the prodromal synucleinopathy period, primarily isolated rapid eye movement (REM) sleep behavior disorder (iRBD) and daytime hypersomnolence correlate best with the recently proposed “body-first” Lewy body disease progression. iRBD is the most widely recognized form of prodromal α-synucleinopathy, and patients with iRBD show abnormal α-synuclein in tissues and biofluids even in the absence of cognitive or motor symptoms. More importantly, individuals with iRBD have an elevated risk for near-term development of a clinically diagnosable symptomatic synucleinopathy. Other sleep disorders such as hypersomnia and circadian rhythm dysfunction also occur across the synucleinopathy spectrum, although their prognostic significance is less well understood than iRBD. Finally, isolated REM sleep without atonia may represent an even earlier stage of prodromal synucleinopathy, but further studies are needed.

Fontan-associated liver disease (FALD) occurs in all patients who have undergone Fontan palliation for functional single ventricle congenital heart defects. While liver fibrosis is universal in patients who have undergone Fontan palliation, FALD may lead to more serious consequences including portal hypertension, cirrhosis, and hepatocellular carcinoma. Scientific studies of the pathophysiology and clinical management of FALD have been limited to date by the heterogeneous nature of the disease, relatively small population of patients with Fontan physiology, and inaccuracy of noninvasive staging tests. As survival after the Fontan procedure improves, the population of adults with Fontan physiology is growing, leading to more severe extracardiac complications related to the Fontan circulation and growing demand for heart and liver transplantation. The accurate evaluation, staging, and management of FALD comprises a clinical challenge which requires expert multidisciplinary input.

AbstractAutoimmune-associated seizures and epilepsy are increasingly recognized in clinical practice and can arise in the setting of acute encephalitis but in some cases may present with chronic focal epilepsy. These conditions are usually resistant to antiseizure therapy but may respond definitively to timely immunotherapy. Early diagnosis and treatment are critical to minimize neural injury and optimize outcomes. Treatment is guided by consensus opinion because definitive trials are currently lacking. The initial management approach usually involves first-line agents such as corticosteroids, intravenous immunoglobulin (IVIg), or plasma exchange, with second-line agents like rituximab or cyclophosphamide. Maintenance therapy is considered to prevent relapses, which occur in up to 35% of patients. Relapse management requires careful differentiation from postencephalitic epilepsy, which in the absence of active inflammation does not respond to immunotherapy. This review discusses treatment strategies for autoimmune-associated seizure disorders, including acute symptomatic seizures and epilepsy. We discuss expected outcomes on the basis of the underlying pathogenesis including cases mediated by autoantibodies targeting specific neuronal surface/synaptic antigens, and intracellular epitopes, and for cases lacking defined biomarkers. Specific approaches are outlined for disorders such as anti-LGI1, anti-NMDAR, anti-GABA-BR, and anti-GAD65 encephalitides, emphasizing tailored immunotherapy based on pathophysiology and clinical context.

Abstract Biliary strictures are a complicated entity that requires careful thought and dedicated workup to define, understand, and plan the proper management pathway. From a surgical standpoint, it can be a mixed bag at the time of presentation. Even then, the information may not be fully diagnostic and often requires multiple interventions to assess the pathology and extent of the disease. In most cases, there is concern for malignancy with no effective screening tools and small surgical windows for cure. Therefore, a dedicated multidisciplinary team of surgeons, interventional radiologists, advanced endoscopists, hepatologists, and oncologists is always necessary to work together efficiently to gather information, diagnose, prevent secondary complications, and create an effective treatment plan with aligned goals of care.

AbstractDevelopmental and epileptic encephalopathies (DEEs) are a group of rare, severe, early-onset epilepsies characterized by pharmacoresistance, marked electroencephalographic abnormalities, and delayed or regressive psychomotor development. DEEs are associated with poor long-term outcomes and increased mortality; however, early recognition and targeted treatment can impact neurodevelopmental outcomes and overall quality of life. Treatment with antiseizure medication is often challenging given drug resistance, chronic polypharmacy, and medication interactions. With advances in genetic testing and increased understanding of the neurobiological mechanisms of DEEs, the treatment approach is evolving and includes repurposed antiseizure medications and targeted therapies, as well as early surgical intervention in select patients. In addition to high seizure burden and neurodevelopmental delay, DEEs are associated with comorbidities affecting a range of body systems; these can include intellectual disability, psychiatric disorders, motor dysfunction, and respiratory and gastrointestinal problems. Over time, these comorbidities increase the complexity of management and have important implications on the disease burden and quality of life for both patients and their caregivers. Multidisciplinary care in DEEs is paramount. We summarize the current evidence on the management of specific DEEs, focusing on targeted therapies and optimizing outcomes.

Abstract Total wrist arthroplasty (TWA) is a motion-preserving treatment option for wrist arthritis. High-precision measurement methods for implant migration such as computed tomography motion-analysis (CTMA) can potentially detect poor implant fixation. The aim of this pilot study was to assess CTMA as a complementary method to diagnose aseptic loosening of TWA. Three patients with a TWA and wrist pain during activity underwent induced displacement CT (CTMA) with alternated provocations as a complement to plain radiographs. Two of the three patients had displacement of the carpal component on CTMA. The radial component was stable in all cases. The tool was adapted to clinical routine use. CT motion-analysis could be a valuable adjunct to plain radiographs in assessing component loosening in TWA.

AbstractA 60-year-old woman with chronic pain in the left long finger, occasionally involving the ring finger and intermittently extending to the hand, wrist, and distal forearm, was referred for radiographs and a triple-phase technetium-99m methylene diphosphonate bone scintigraphy to evaluate for possible complex regional pain syndrome. Initial radiographs were normal. A three-phase bone scan revealed focal radiotracer uptake at the distal aspect of the long finger during the blood pool phase only, with normal blood flow and delayed phases, suggesting a hypervascular soft tissue tumor. Follow-up magnetic resonance imaging showed a hypervascular nodule in the nail bed of the long finger. The lesion was surgically resected, and pathology results confirmed the diagnosis of a glomus tumor.