Data of safety in a single-center alemtuzumab treated population

Alemtuzumab is approved for highly active MS and, in Europe, can be employed after other disease-modifying treatments (DMTs) as an escalation approach or first therapeutic option. The occurrence of secondary autoimmune adverse events and infections differs depending on the employed approach. In the manuscript entitled “Alemtuzumab treatment of multiple sclerosis in real-world clinical practice: report from a single Italian center” by di Ioia M. and collaborators, efficacy and safety data of alemtuzumab were evaluated in a real-world MS population. The aim of the article is to describe in detail the unexpected serious adverse events which occurred in this cohort during and after the administration of the alemtuzumab treatment. Adverse events were observed in 45,7% of the patients. These events were ranked as severe in 23% of the patients. We reported, in particular, cases of autoimmune hemolytic anemia (AIHA), pancytopenia, viral hepatitis E and noninfectious meningo-encephalomyelitis

Instanton Calculus and Nonperturbative Relations in N=2 Supersymmetric Gauge Theories

Using instanton calculus we check, in the weak coupling region, the nonperturbative relation =i\pi\left(\cf-{a\over 2} {\partial\cf\over\partial a}\right) obtained for a N=2 globally supersymmetric gauge theory. Our computations are performed for instantons of winding number k, up to k=2 and turn out to agree with previous nonperturbative results.Comment: 18 pages, latex file, no figure

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

From 1999 to date, 50 affecting function variants have been identified and associated to HHH syndrome [1–5]. As it is not available in the literature a complete up-to-date list of disease-causing variants for SLC25A15 gene, we included this information as a Supplementary Excel sheet (See Supplementary Material File #1): this list was created by using LOVD and ClinVar databases and liked to the relevant literature reference. Reported variants consist of: 29 missense variants, 4 frameshift, 11 nonsense, 2 splicing, 2 small deletion, 1 in frame insertion, 1 gross deletion

Sum rules and electrodynamics of high-Tc cuprates in the pseudogap state

We explore connections between the electronic density of states (DOS) in a conducting system and the frequency dependence of the scattering rate $1/\tau(\omega)$ inferred from infrared spectroscopy. We show that changes in the DOS upon the development of energy gaps can be reliably tracked through the examination of the $1/\tau(\omega)$ spectra using the sum rules discussed in the text. Applying this analysis to the charge dynamics in high-$T_c$ cuprates we found radically different trends in the evolution of the DOS in the pseudogap state and in the superconducting state.Comment: 4 pages, 3 figure

The 3-string vertex and the AdS/CFT duality in the PP-wave limit

We pursue the study of string interactions in the PP-wave background and show that the proposal of hep-th/0211188 can be extended to a full supersymmetric vertex. Then we compute some string amplitudes in both the bosonic and fermionic sector, finding agreement with the field theory results at leading order in lambda'.Comment: Latex, 25 pages. Comments added and typos correcte

BMN operators with vector impurities, Z_2 symmetry and pp-waves

We calculate the coefficients of three-point functions of BMN operators with two vector impurities. We find that these coefficients can be obtained from those of the three-point functions of scalar BMN operators by interchanging the coefficient for the symmetric-traceless representation with the coefficient for the singlet. We conclude that the Z_2 symmetry of the pp-wave string theory is not manifest at the level of field theory three-point correlators.Comment: 25 pages, 7 figures. v1: A reference and a footnote added; v2: New contributions found, Z_2 symmetry lost in 3-point function

Chiral Fermions on the Lattice through Gauge Fixing -- Perturbation Theory

We study the gauge-fixing approach to the construction of lattice chiral gauge theories in one-loop weak-coupling perturbation theory. We show how infrared properties of the gauge degrees of freedom determine the nature of the continuous phase transition at which we take the continuum limit. The fermion self-energy and the vacuum polarization are calculated, and confirm that, in the abelian case, this approach can be used to put chiral gauge theories on the lattice in four dimensions. We comment on the generalization to the nonabelian case.Comment: 31 pages, 5 figures, two refs. adde

Non-fermi-liquid single particle lineshape of the quasi-one-dimensional non-CDW metal Li_{0.9}Mo_{6}O_{17} : comparison to the Luttinger liquid

We report the detailed non-Fermi liquid (NFL) lineshape of the dispersing excitation which defines the Fermi surface (FS) for quasi-one-dimensional Li_{0.9}Mo_{6}O_{17}. The properties of Li_{0.9}Mo_{6}O_{17} strongly suggest that the NFL behavior has a purely electronic origin. Relative to the theoretical Luttinger liquid lineshape, we identify significant similarities, but also important differences.Comment: 5 pages, 3 eps figure

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder