Role of PET and SPECT in the study of Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis has been defined as a "heterogeneous group of neurodegenerative syndromes characterized by progressive muscle paralysis caused by the degeneration of motor neurons allocated in primary motor cortex, brainstem, and spinal cord." A comprehensive diagnostic workup for ALS usually includes several electrodiagnostic, clinical laboratory and genetic tests. Neuroimaging exams, such as computed tomography, magnetic resonance imaging and spinal cord myelogram, may also be required. Nuclear medicine, with PET and SPECT, may also play a role in the evaluation of patients with ALS, and provide additional information to the clinicians.This paper aims to offer to the reader a comprehensive review of the different radiotracers for the assessment of the metabolism of glucose (FDG), the measurement of cerebral blood flow (CBF), or the evaluation of neurotransmitters, astrocytes, and microglia by means of newer and not yet clinically diffuse radiopharmaceuticals

Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: Early diagnosis by ultrasonographic study

Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and paresthesiae. We describe a case of a 43 year-old male patient with early onset of knee arthritis and no other symptoms. Ultrasound revealed diffuse and confluent hyperechoic deposits in cartilage, fibrocartilage of the menisci and synovium and calcium pyrophosphate crystals were observed in the synovial fluid of the knee. The concomitant presence of hypomagnesemia, hypocalciuria and hypokalemia made clear the diagnosis of Gitelman's syndrome associated with chondrocalcinosis

Efficacy of Immersive Virtual Reality Combined With Multisensor Biofeedback on Chronic Pain in Fibromyalgia: A Pilot Randomized Controlled Trial

Objective: Fibromyalgia (FM) is a syndrome marked by chronic pain, fatigue, and mood disorders. Nonpharmacologic strategies are recommended to avoid overuse of opioids or nonsteroidal anti-inflammatory drugs, but current approaches often provide limited relief. This study aimed to preliminarily assess the efficacy and feasibility of a new combined intervention of immersive virtual reality with multisensor biofeedback (IVR-BF) in FM management. Methods: In this single-center, pilot, open-label, randomized controlled trial, adult patients with FM were randomly assigned 1:1 to either the treatment (TR) group, receiving IVR-BF immediately, or a waitlist control (WL) group, receiving IVR-BF after the TR group completed treatment. The primary outcome was reduction in visual analog scale (VAS) pain scores in the TR group, after five IVR-BF sessions, compared to the WL group, after the waiting period. Secondary outcomes included improvements in FM impact (FM Impact Questionnaire [FIQ] score) and qualitative aspect of pain (Short-form McGill Pain Questionnaire [SF-MPQ] score). A longitudinal analysis was conducted across all patients to examine the trends in VAS pain, SF-MPQ, and FIQ score during the trial. Results: Fifty patients were screened, and 20 female patients (10 TR and 10 WL) completed the trial and were analyzed. Those in the TR group showed significantly lower VAS pain scores compared to those in the WL group (P = 0.011), along with significant improvement in the FIQ score (P = 0.018). The longitudinal analysis revealed progressive improvements in VAS pain, SF-MPQ, and FIQ score, supported by physiologic improvements (heart rate variability, respiratory rate, skin conductance). No significant safety concerns were reported. Patients expressed a high level of satisfaction with the IVR experience. Conclusion: IVR-BF is a feasible treatment that shows potential in reducing pain and improving quality of life in patients with FM, supporting the need for larger trials to further evaluate its efficacy. (Figure presented.)

Development of Eosinophilic Granulomatosis With Polyangiitis Despite Anti–Interleukin-5 Receptor Therapy: The First Case of Bilateral Central Retinal Artery Occlusion During Benralizumab Treatment

Here, we describe a rare presentation of eosinophilic granulomatosis with polyangiitis (EGPA) under benralizumab therapy manifesting as bilateral central retinal artery occlusion (CRAO). The patient, a 61-year-old man with chronic eosinophilic rhinosinusitis and severe asthma, experienced sudden bilateral visual loss and transient amaurosis. Ophthalmologic evaluations, including a fundus examination and optical coherence tomography, confirmed CRAO, and laboratory test results revealed elevated markers of inflammation and positive antimyeloperoxidase antibodies in the context of normal eosinophil counts. Intensive immunosuppressive therapy led to resolution of systemic inflammation, although significant visual impairment persisted. These findings underscore the potential limitations of anti–interleukin-5 receptor therapy in preventing vasculitic complications in EGPA

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid-Lineage Hematologic Abnormality

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid-lineage progenitors. Sensitive markers include macrocytic anemia, vacuolization of bone marrow precursors, and myelodysplasia. Here, we report the first case of VEXAS syndrome presenting with neutrophilic dermatosis and a serum monoclonal component, without myeloid-lineage hematologic abnormalities atonset. This case underscores the importance of including VEXAS syndrome in the differential diagnosis when monoclonal gammopathy is associated with rheuamtologic features, particularly in older patients presenting with unexplained cutaneous inflammatory manifestations and a serum clonal component, as such presentations may precede the development of classical hematologic abnormalities

Healthcare and economic burden of ANCA-associated vasculitis in Italy: an integrated analysis from clinical and administrative databases

ANCA-associated vasculitides (AAV) comprise a group of systemic vasculitides characterized by inflammation of small-sized blood vessels leading to multi-organ involvement. The worldwide annual incidence of AAV ranges from 1.2 to 3.3 cases per 100 000 individuals with a prevalence of 4.6\u201342.1 cases per 100 000 individuals. The prevalence of AAV is geographically heterogeneous; therefore, regional epidemiological studies can be more informative to improve health care systems. Even though clinicians are aware that the healthcare burden and the risk of hospitalization of AAV appear high, data on hospitalization and cost of illness due to AAV are still scarce or even lacking. This study aims to characterize the economic burden of AAV in Friuli Venezia Giulia (FVG), Italy. Thus, a retrospective study was conducted through the integration of many administrative health databases of the FVG as the source of information. From data integration, we estimated that more than two-thirds of AAV patients showed at least one hospitalization in their medical history, most frequently caused by the disease itself or superimposed infections. Around 10% of patients developed end-stage renal disease. In an 8-year follow-up, the overall healthcare cost was \u20ac 1,215,078, corresponding to \u20ac 6,168 patient-year. ANCA-positive patients showed much higher costs than ANCA-negative patients did. Overall, AAV are rare diseases, but imply very high healthcare costs. Early diagnosis and optimal treatment probably still remain unmet needs for AAV

Post-covid-19 arthritis and sacroiliitis: Natural history with longitudinal magnetic resonance imaging study in two cases and review of the literature

Severe acute respiratory coronavirus-2 syndrome (SARS-CoV-2) is a well-known pandemic infectious disease caused by an RNA virus belonging to the coronaviridae family. The most important involvement during the acute phase of infection concerns the respiratory tract and may be fatal. However, COVID-19 may become a systemic disease with a wide spectrum of manifestations. Herein, we report the natural history of sacroiliac inflammatory involvement in two females who developed COVID-19 infection with mild flu-like symptoms. After the infection they reported inflammatory back pain, with magnetic resonance imaging (MRI) studies showing typical aspects of sacroiliitis. Symptoms improved with NSAIDs therapy over the following months while MRI remained positive. A literature review was performed on this emerging topic. To our knowledge, this is the first MRI longitudinal study of post-COVID-19 sacroiliitis with almost one year of follow-up. Predisposing factors for the development of articular involvement are unclear but a long-lasting persistence of the virus, demonstrated by nasopharyngeal swab, may enhance the probability of altering the immune system in a favourable background

Clinical, laboratory and immunohistochemical characterization of in situ pulmonary arterial thrombosis in fatal COVID-19

Background: COVID-19 patients carry an increased rate of thrombosis. It is controversial to which extent thrombi in the pulmonary arterial tree really contribute to disease severity with hypoxemia secondary to microvascular/lung parenchymal damage with viral alveolitis considered to play the main role in critical disease. Objectives: The primary objective was to compare post-mortem lung disease from fatal COVID-19 pneumonia in patients with macroscopically evident pulmonary arterial tree thrombosis and patients without, by characterizing the immunohistochemical nature of thrombi, and by comparing clinical and laboratory features of these patients with other COVID-19 patients who died but without evidence of pulmonary arterial thrombosis (controls). Patients and methods: 13 COVID-19 pneumonia cases (mean age ± standard deviation: 74 ± 6.5 years) with macroscopically visible pulmonary arterial thrombosis were compared to 14 controls. Hematoxylin and Eosin stained slides were reviewed choosing those with visible pulmonary thrombi which were further characterized by immunohistochemistry, in particular for the inflammatory infiltrates. Ante mortem serum markers relevant to pulmonary embolism were evaluated in both groups. Results: Twenty arterial thrombi (5 cases with multiple thrombi) were selected for study and were composed by white blood cells (WBC) [median, IQR range: 10 % (5–12.25)], mainly neutrophils [58 % (35.2–64.5)]. Cases with thrombosis showed significantly higher levels of platelet count [median, IQR range: 195000/mmc (157750–274,500) vs 143,500 (113000–175,250), p = 0.011], LDH [854 U/L (731–1315) vs 539 (391.5–660), p = 0.003] at admission, and D-dimer at ICU transfer [25,072 FEU (6951–50,531) vs 1024 (620–5501), p = 0.003]. Conclusions: Immunothrombotically driven arterial thrombi in COVID-19 patients are associated with D-Dimer and LDH elevations, thus linking inflammation, coagulopathy and organ damage in fatal COVID-19