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Objectives: Immunoglobulin A vasculitis/Henoch–Schönlein purpura (IgAV/HSP) is a major cause of vasculitis in children. It is often accompanied by nephritis (HSPN) and could progress to chronic kidney disease. Galactose‐deficient IgA1 was recently reported to be involved in the pathogenesis of HSPN, for which immunosuppressive drugs are considered key treatment. However, the involvement of immune cells in the development of HSPN remains unclear. Methods: We compared gene expressions of peripheral blood mononuclear cells (PBMCs) among healthy controls (n = 10), IgAV/HSP patients (n = 21) and HSPN patients (n = 8), which required nephritis development within 3 months of IgAV/HSP onset. Immunohistochemistry analysis and flow cytometry were performed to assess renal biopsy specimens and PBMCs, respectively. Serum CX3CL1 levels were measured by ELISA. Results: GNLY and GZMB expressions increased in HSPN patients, consistent with increased number of glomerular granulysin‐ and/or granzyme B‐positive cells demonstrated by immunohistochemistry analysis. Additionally, circulating cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells were activated with the up‐regulated surface expressions of human leucocyte antigen DR (HLA‐DR) and CX3CR1 in HSPN patients with severe proteinuria. Renal biopsies demonstrated increased number of CD8+ cells and/or CD56+ cells and up‐regulated expression of glomerular CX3CL1, a specific ligand for CX3CR1, along with increased serum CX3CL1 level. Conclusion: Activated CTLs and NK cells play roles in the development of nephritis in IgAV/HSP patients and can be used as novel biomarkers for HSPN. [ABSTRACT FROM AUTHOR]

Background: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit of calcium channel. Few reports have documented the non‐neuromuscular phenotypes of HypoPP. Methods: The proband is a Japanese woman who developed HypoPP at 6 years of age. An excessive insulin secretion with the oral glucose tolerance test rationalized that she had experienced frequent attacks of paralysis on high‐carbohydrate diets. Results: Voglibose and acetazolamide effectively controlled her paralytic episodes. Her 8‐year‐old son and 2‐year‐old daughter started showing the paralytic symptoms from 4 and 2 years of age, respectively. Laboratory tests revealed high concentrations of creatinine kinase in serum and elevated renin activities in plasma of these children. The targeted sequencing confirmed that these three patients had an identical heterozygous mutation (p.V876E) in CACNA1S. Conclusion: Our data indicate that the p.V876E mutation in CACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP. [ABSTRACT FROM AUTHOR]

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an uncommon type of cardiomyopathy with fibrofatty tissue replacement. Magnetic resonance imaging (MRI) is a sophisticated method for the diagnosis of ARVD/C. Electroanatomical mapping has been reported to rapidly provide accurate data that facilitates catheter ablation of VT in ARVD/C. In addition, multislice CT (MSCT) is fast, easy to perform, and has a more reliable image quality. MSCT is considered a clinically valuable, noninvasive tool for assessment of myocardial pathology. However, the relationship between MSCT, cardiac MRI and electroanatomical mapping imaging in patients with ARVD/C is unknown. We report two cases diagnosed as ARVD/C by endomyocardial biopsy. In one case MRI imaging revealed marked wall thinning and a decrease in wall motion in the inferior wall and basal interventricular septum of the left ventricle. In another case an electroanatomical map of the RV was created. Endocardial voltage mapping in sinus rhythm revealed a large low voltage area and a focal pattern of activation was documented in activation mapping during VT. In both cases MSCT demonstrated low density areas indicative of focal fatty infiltration and morphological and functional abnormalities which were simultaneously assessed with MRI or electroanatomical mapping. [Copyright &y& Elsevier]

Cardiac resynchronization therapy (CRT) improves symptoms and cardiac function in patients with heart failure and prolongs QRS duration on an electrocardiogram. However, additional effects of concomitant CRT in patients who undergo cardiac surgery are unclear. We assessed the clinical efficacy of this therapy when it is performed concomitantly with primary cardiac surgery. METHODS: We evaluated four patients who underwent primary surgery and CRT between February 2002 and December 2003, and compare clinical data with four patients who underwent conventional primary surgery without CRT. RESULTS: Primary surgeries were CABG (n = 2), aortic valve replacement (n = 1), mitral valve plasty (n = 1) and mitral annular plication (n = 4). After the operation, symptoms associated with congestive heart failure were improved in all patients. The average NYHA class improvement was from 3.3 ± 0.5 before the operation to 1.7 ± 0.6 after the operation. All patients were discharged after surgery. Only one patient needed re-hospitalization for congestive heart failure one month after the operation. The mean QRS duration (190 ± 47.6 ms vs 160 ± 16.3 ms), cardiothoracic ratio (60.7 ± 5.7% vs 58.5 ± 2.9%) and ejection fraction (28.5 ± 8.8% vs 50.0 ± 0.0%) were also improved after surgery. CONCLUSION: In patients with poor left ventricular function and impaired cardiac conduction, CRT performed concomitantly with primary surgery may improve the postoperative course. Further study on indications for implantation of a CRT device during primary surgery is needed. [Copyright &y& Elsevier]