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ObjectivesIntraneural perineurioma is a rare, benign neoplasm of peripheral nerve. The histopathological features are well defined.DesignWe describe 5 cases of histologically confirmed perineuriomas and 14 cases diagnosed on clinical and radiological characteristics to highlight the features of this rare entity.MethodsWe identified cases from the imaging and histopathology database and conducted a retrospective case note review.ResultsThe subjects include 7 men and 12 women, with mean (standard deviation) age of 17.64 (13) years at onset of symptoms. 14 of the 15 lower limb cases were located in the sciatic nerve or its divisions. 1 each was identified in ulnar, median and radial nerves and 1 case was in a facial nerve. The MRI features were homogenous between the groups. The nerves biopsied included 1 tibial, 1 ulnar, 1 radial, 1 facial and 1 sciatic all showing classic pathology findings. 2 patients, interestingly, had coincidental intracranial meningioma, given the recent discovery of a potential shared pathogenesis (mutations in TRAF7) with intracranial meningiomas. 2 patients had ‘skip lesions’ within the same nerve and 3 patients had foraminal and extraforaminal involvement of lumbosacral nerve roots.ConclusionsOur unit now favours the clinicoradiological features for diagnosing perineuriomas rather than performing a biopsy on all patients. Also, the potential shared pathogenesis with meningiomas raises the clinical issue of screening in patients with perineuriomas but more clinical evidence is required.

Abstract INTRODUCTION Brain arteriovenous malformations (bAVMs) are a rupture-prone tangle of blood vessels with direct shunting between arterial and venous circulations. The mechanisms contributing to bAVM pathogenesis in sporadic lesions remains elusive. Studies have focused on endothelial cells and the contributions of other cell types have yet to be studied. Pericytes are multi-functional cells which regulate brain angiogenesis and vascular stability. Here, we analyze the abundance of brain pericytes and their association with vascular changes in human bAVMs METHODS bAVMs and non-vascular lesion epilepsy tissue were surgically resected. Immunofluorescent staining was performed to quantify pericytes (platelet derived growth factor receptor beta (PDGFRbeta) and N-aminopeptidase (CD13)) and hemoglobin. Hemosiderin deposits were quantified with Prussian blue staining. Syngo-iFlow processing was utilized to measure blood flow on pre-intervention angiograms. RESULTS >Immunofluorescent analysis demonstrated a 68% reduction in vascular pericyte number in bAVMs (P < 0.01). Analysis demonstrated 52% and 50% reduction in the vascular surface area covered by CD13- and PDGFRbeta-positive pericyte cell processes, respectively, in bAVMs (P < 0.01). Reductions in pericyte coverage were greatest in ruptured bAVMs (P < 0.05), and correlated negatively with microhemorrhage-derived extravascular hemoglobin in unruptured cases (CD13: r = −0.93, P < 0.01; PDGFRbeta: r = −0.87, P < 0.01). A similar negative correlation was observed with pericyte coverage and Prussian-blue positive hemosiderin deposits. Pericyte coverage correlated positively with mean transit time of blood flow through the bAVM nidus (CD13: r = 0.60, P < 0.05; PDGFRbeta: r = 0.63, P < 0.05). CONCLUSION Pericytes are reduced in sporadic bAVMs and are lowest in cases with prior rupture or with greatest mircohemorrhage burden. Pericytes also correlate with rate of blood flow through the bAVM nidus. This suggests that pericytes are associated with and may contribute to vascular fragility and hemodynamic changes in bAVMs Future studies are needed to better characterize the role of pericytes in AVM pathogenesis.

Characteristics of the disease were represented as following; high incidence in elder women, low rate of undeveloped mastoid air cell system, severe destruction of the stapes, and complex extension pathway.

Immune thrombocytopenia (ITP) is a rare autoimmune disorder with an incidence of 3 to 5 per 100 000 individuals. In children, the disease is self-limited and is most commonly virus related (acute ITP) whereas in adults, the disease is typically chronic. The age distribution of adult ITP displays 2 peaks; the first in younger adults aged 18 to 40 with a female predominance and the second in people aged older than 60 with men and women affected equally. Our approach to ITP has evolved over the past several years: there has been a change in nomenclature and ITP now denotes “immune thrombocytopenia” (the “I” no longer denoting “idiopathic”) and “purpura” no longer features in the name of the disease; new insights into the pathogenesis of ITP have revealed the importance of impaired megakaryocytopoiesis in the condition; underlying mechanisms of secondary ITP have been elucidated and finally novel thrombopoietic agents have been shown to be effective in the treatment of ITP in randomized clinical trials. In this article, we review important recent advances in the pathogenesis and treatment of ITP.

In development of therapeutic strategy for Huntington’s disease (HD) targeting mutation site directly to inhibit selectively the expression of mutant gene is an attractive option. We have previously described CAG repeat-targeting siRNAs with specific substitutions resulting in one or more base mismatches with the target sequence. Interestingly, miRNA-like activity of these siRNAs resulting in allele-selectivity in downregulation of mutant protein in cellular models of HD, SCA3, SCA7 and DRPLA were reported by us and others. Currently, we investigate activity and mechanism of allele-selective CAG repeat-targeting siRNAs in inducible Flp-In 293 T-REx cell lines expressing HTT fragment and iPSC-derived human neural HD progenitors. Furthermore, we have generated new mouse models to investigate the extent of toxic RNA contribution to HD pathogenesis as well as range of cellular processes and pathways altered by mutant HTT transcript. These models allow to distinguish events in the pathogenesis that are triggered by toxic RNA from those initiated by mutant protein. We achieved those two HD transgenic mouse models by using knock-in strategy into Rosa26 locus. Upon Cre-lox crossing they express human mutated cDNA HTT fragment (in translated or non-translated version) with additional sequences for protein and transcript visualization. Currently, we perform experiments to characterize these models at molecular and behavioral level.

[This corrects the article DOI: 10.1371/journal.ppat.1006843.].

β 3 Integrin has been identified as a cellular receptor for Hantaan virus, which causes hemorrhagic fever with renal syndrome (HFRS). To investigate the relationship between intensity of the platelet membrane β 3 integrin (CD61) and disease severity, the percentage of CD61-positive platelets and the mean fluorescence intensities (MFI) of platelet CD61 were determined in patients with HFRS by flow cytometry. The intensity levels of CD61 in patients with HFRS were significantly higher than those in the controls and correlated with the clinical phases of the disease. The CD61 intensity at the oliguric phase was inversely correlated with platelet count and serum albumin, and positively correlated with white blood cell count, blood urea nitrogen, serum creatinine, and alanine aminotransferase levels. The results suggest that the intensity levels of platelet CD61 were elevated and associated with clinical phases and disease severity in patients with HFRS, and the intensity of platelet β 3 integrin in patients with HFRS may be indicative of disease severity.