Anti-citrullinated peptide antibody-negative RA is a genetically distinct subset: a definitive study using only bone-erosive ACPA-negative rheumatoid arthritis

Objectives. ACPA is a highly specific marker for RA. It was recently reported that ACPA can be used to classify RA into two disease subsets, ACPA-positive and ACPA-negative RA. ACPA-positive RA was found to be associated with the HLA-DR shared epitope (SE), but ACPA negative was not. However, the suspicion remained that this result was caused by the ACPA-negative RA subset containing patients with non-RA diseases. We examined whether this is the case even when possible non-RA ACPA-negative RA patients were excluded by selecting only patients with bone erosion

A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4

Background: To investigate the clinical and radiological presentation of anew ELOVL4mutation in a Swedish family.Methods:We compiled information on a Swedish family with 6 affectedmembers. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically bywhole exome or whole genome sequencing.Results: All examined affected family members showed slowly progressivecerebellar ataxia with balance impairment starting at between 42 and 70years, ocular movement disturbances with nystagmus, hypermetric saccades or vertical gaze palsy, and cerebellar atrophy on imaging. None of theaffected family members had erytrokeratodermia variabilis, but three haddry skin or psoriasis. Two members had seizures, one had intermittentmuscular cramps. One deceased obligate carrier had dementia and one ofthe members examined had mild cognitive dysfunction (MMSE 23/30). Oneindividual had poor night vision. One individual had a diagnosis ofschizophrenia since age 25 years. We identified a novel heterozygousvariant ELOVL4 c.511A>C, p.(Ile171Leu) (NM_022726.4) in affected individuals. When this was discovered in the first family member it was reported as a variant of uncertain significance (VUS). However, aftersegregation analysis and detailed clinical information for the entire family,the variant could be reclassified as likely pathogenic according to the ACMG classification system (PMID: 25741868) and Jarvik et al (PMID: 27236918).Conclusions: So far, including the present report, eight different ELOVL4-variants have been described in SCA34 patients. Our examinations provideadditional knowledge to the presentation of this rare neurodegenerativedisorder

Prevalence of hepatitis B virus infection in a population exposed to biological risk.

The prevalence of hepatitis B virus infection was investigated in 1,221 subjects (809 exposed to different extent of biological risk and 412 supposed not exposed personnel) employed in Padua University. The population was subdivided in four group according to no, low and occasional, intermediate, even though continuous, and high exposure to biological risk. Past history of hepatitis B virus infection was detected in 10.0% of subjects (8.8% had positive hepatitis B antibodies, 1.1% positive hepatitis B surface antigens and 0.2% positive hepatitis B enveloped antigen). Seroprevalence of positive hepatitis B antibodies increased with age (p < 0.001) but was not related with sex. Significant higher prevalence of hepatitis B virus infection was not found among the groups, but excluding vaccinated subjects (333, 27.3%), the prevalence was significantly higher in intermediate (p < 0.025) and high (p < 0.001) risk group when compared with the other two groups, other than in high compared with intermediate risk group (p < 0.05). The results show low prevalence (10.0%) of hepatitis B virus infection in the examined population, but increasing according to the risk extent

Magnetic and geometric control of spin textures in the itinerant kagome magnet Fe3 Sn2

Magnetic materials with competing magnetocrystalline anisotropy and dipolar energies can develop a wide range of domain patterns, including classical stripe domains, domain branching, and topologically trivial and nontrivial (skyrmionic) bubbles. We image the magnetic domain pattern of Fe3Sn2 by magnetic force microscopy and study its evolution due to geometrical confinement, magnetic fields, and their combination. In Fe3Sn2 lamellae thinner than 3 μm, we observe stripe domains whose size scales with the square root of the lamella thickness, exhibiting classical Kittel scaling. Magnetic fields turn these stripes into a highly disordered bubble lattice. Complementary micromagnetic simulations quantitatively capture the magnetic field and thickness dependence of the magnetic patterns, reveal strong reconstructions of the patterns between the surface and the core of the lamellae, and identify the observed bubbles as skyrmionic bubbles. Our results imply that geometrical confinement together with competing magnetic interactions can provide a path to fine-tune and stabilize different types of topologically trivial and nontrivial spin structures in centrosymmetric magnets