A case of juvenile idiopathic polyarticular arthritis complicated by IgA deficiency in 22q11 deletion syndrome

Chronic arthritis may occur in association with antibody deficiency and chromosomal aberrations. This report presents the case of a 6-year-old girl with chromosome 22q11 deletion syndrome and chronic arthritis. The onset of arthritis occurred at 4?years of age. The chronic arthritis course has been the polyarticular type. Neither antinuclear antibody nor rheumatoid factor was detected. Serum IgA was extremely low. She was diagnosed with juvenile idiopathic polyarticular arthritis (JIA) complicated by IgA deficiency in the 22q11 deletion syndrome. There is an increased prevalence of chronic arthritis in association with 22q11 deletion syndrome with IgA deficiency, but the reasons for this association are unknown. This study evaluated the possible correlation between cytokines and the susceptibility to chronic arthritis in the 22q11 deletion syndrome with IgA deficiency. The expression of pro-inflammatory cytokines such as IL-8, IL-6, MIP-1??, and MCP-1 suggests that T and B cells, macrophages and neutrophils modulate joint inflammation by an immune response. And the presence of IL-10 and IL-5 might suggest that the synovitis is associated with JIA and IgA deficiency.     

Oral Glucose Loading Modulates Plasma β-Amyloid Level in Alzheimer's Disease Patients: Potential Diagnostic Method for Alzheimer's Disease

Background: Although plasma β-amyloid (Aβ) has been suggested to be a noninvasive diagnostic biomarker for Alzheimer's disease (AD), its significance and validity have been inconclusive. Thus, it is quite important to establish a novel diagnostic method related to plasma Aβ. Methods: As our previous animal studies demonstrated a relation of glucose with plasma Aβ, we examined the effect of glucose loading on plasma Aβ levels in AD patients. After fasting, an oral glucose load was administered to AD patients and non-AD dementia patients, and subsequently, blood glucose, plasma insulin, and plasma Aβ levels were measured. Results: The plasma levels of baseline blood glucose, plasma insulin, and plasma Aβ were not different between the two groups. However, immediately after glucose loading, a significant increase in plasma Aβ40 and Aβ42 levels was observed in AD patients, whereas a mild decrease in plasma Aβ40 and Aβ42 levels was detected in non-AD dementia patients. Conclusion: The present study clearly demonstrated a different response in plasma Aβ40 and Aβ42 levels after glucose loading between AD and non-AD dementia patients, which is consistent with our previous animal studies. These findings suggest a novel diagnostic tool for AD using the elevation of plasma Aβ level after glucose loading, although further studies are necessary.     

Endolympathic hydrops in patients with vestibular schwannoma: visualization by non-contrast-enhanced 3D FLAIR

Introduction  

Signal intensity of ipsilateral labyrinthine lymph fluid has been reported to increase in most cases with vestibular schwannoma (VS) on 3D fluid attenuated inversion recovery (FLAIR). The purpose of this study was twofold, (1) to evaluate if endolymphatic space can be recognized in the patients with VS on non-contrast-enhanced 3D-FLAIR images and (2) to know if the vertigo in the patients with VS correlates to vestibular endolymphatic hydrops.