[Retrospective analysis of anti-TIF1gamma, anti-NXP2 and anti-SAE1/2 antibodies carriers at Bordeaux university hospital from November 2014 to February 2017]. / Analyse rétrospective des patients porteurs d'anticorps anti-TIF1gamma, anti-NXP2 et anti-SAE1/2 au CHU de Bordeaux de novembre 2014 à février 2017.

INTRODUCTION: Dermatomyositis are rare autoimmune diseases. The discovery of specific antibodies such as the anti-TIF1γ, anti-SAE1/2 and anti-NXP2 antibodies has been associated with specific clinical phenotypes. The recent development of standardized kits based on immunodot method is a progress in dermatomyositis diagnosis. Here, we report the clinical characteristics of patients carrying these antibodies with or without clinical setting of dermatomyositis. METHODS: This single-center french retrospective study was conducted from November 2014 to February 2017 at Bordeaux university hospital. Patients carrying anti-TIF1γ, anti-SAE1/2 and anti-NXP2 antibodies, detected by immunodot, were included. RESULTS: Among the 58 patients included, only 10 were finally diagnosed with dermatomyositis. Some form of cancer was found in all anti-TIF1γ antibodies positive patients associated with dermatomyositis. Among the 48 anti-TIF1γ, anti-SAE1/2 and anti-NXP2 antibodies positive patients without clinical phenotype of dermatomyositis, 30 had autoimmune or inflammatory condition and 39 patients presented a significant biological autoimmunity. None of them developed dermatomyositis during the follow-up. CONCLUSION: The immunodot kit allowed the diagnosis of 10 dermatomyositis. A high number of autoantibody positive patients without dermatomyositis raises the issue of the immunodot's performances in the context of biological autoimmunity.

Molecular variability of cowpea mild mottle virus infecting soybean in Brazil.

Molecular variability was assessed for 18 isolates of cowpea mild mottle virus (CPMMV, genus Carlavirus, family Betaflexiviridae) found infecting soybean in various Brazilian states (Bahia, Goiás, Maranhão, Mato Grosso, Minas Gerais, Pará) in 2001 and 2010. A variety of symptoms was expressed in soybean cv. CD206, ranging from mild (crinkle/blistering leaves, mosaic and vein clearing) to severe (bud blight, dwarfing, leaf and stem necrosis). Recombination analysis revealed only one CPMMV isolate to be recombinant. Pairwise comparisons and phylogenetic analysis were performed for partial genomes (ORF 2 to the 3' terminus) and for each ORF individually (ORFs 2 to 6), showing the isolates to be distinct. The topology of the phylogenetic tree could be related to symptoms, but not to the year of collection or geographical origin. Additionally, the phylogenetic analysis supported the existence of two distinct strains of the virus, designated CPMMV-BR1 and CPMMV-BR2, with molecular variations between them.

Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease.

A 2-year-old girl with Moya Moya disease who had relapsing cerebrovascular strokes presented with loose skin folds, 'chicken' skin appearance and perforating elastosis serpiginosa-like lesions in the genitocrural region. Histologically, calcified material perforating the epidermis and adjacent short curled and mineralized elastic fibres suggested a variant of pseudoxanthoma elasticum (PXE). As PXE is known to be caused by various mutations in the transmembrane transporter ABCC6 gene, we hypothesized that a novel ABCC6 mutation may underlie this unique combination of PXE and elastopathic vascular damage. Therefore, the complete ABCC6 coding region of the patient and her parents was screened for genetic alterations. No bona fide disease-causing mutation of ABCC6 could be found in the child and in her parents. However, two novel allelic amino acid substitutions (Arg1273Lys and Glu1293Lys; exon 27) were found in the girl and her father, localized in close proximity to the region that codes for the functionally critical second nucleotide-binding fold of ABCC6. Although a causal involvement of these amino acid substitutions could not be proven based on this study, both heterozygote substitutions may possibly have interacted with other undetected recessive maternal ABCC6 changes in the child. To the best of our knowledge, this is the first report of an association between early-onset PXE and severe Moya Moya syndrome possibly related to ABCC6 changes.

Evidence for oligoclonality and tumor spread by intraluminal seeding in multifocal urothelial carcinomas of the upper and lower urinary tract.

Multifocality and recurrence of urothelial carcinoma may result from either the field effect of carcinogens leading to oligoclonal tumors or monoclonal tumor spread. Previous molecular studies, favoring the monoclonality hypothesis, are mostly limited to the urinary bladder. We investigated genetic alterations in a total of 94 synchronous or metachronous multifocal tumors from 19 patients with at least one tumor both in the upper and lower urinary tract. Loss of heterozygosity (LOH) was determined using eight markers on chromosome 9 and one marker on 17p13 (p53). Microsatellite instability was investigated at six loci and protein expression of MSH2 and MLH1 was evaluated by immunohistochemistry. In addition, exons 5-9 of the p53 gene were sequenced. Deletions at chromosome 9 were found in 73% of tumors and at 17p13 in 18% of tumors. There was no significant difference in the frequency of LOH in the upper and lower urinary tract. Deletions at 9p21 were significantly correlated with invasive tumor growth. The pattern of deletion revealed monoclonality of all tumors in nine patients. In five patients there were at least two tumor clones with different genetic alterations. In four of these patients the different clones occurred in the bladder and subsequently in the ureter and renal pelvis. All four patients with p53 mutations revealed identical mutations in all tumors. Thus, multifocal urothelial carcinomas are frequently monoclonal, whereas others show oligoclonality, providing molecular evidence for field cancerization. Intraluminal tumor cell seeding appears to be an important mechanism of multifocal occurrence and recurrence of urothelial carcinomas.