Dynamic fluctuations in the superconductivity of NbN films from microwave conductivity measurements

We have measured the frequency and temperature dependences of complex ac conductivity, \sigma(\omega)=\sigma_1(\omega)-i\sigma_2(\omega), of NbN films in zero magnetic field between 0.1 to 10 GHz using a microwave broadband technique. In the vicinity of superconducting critical temperature, Tc, both \sigma_1(\omega) and \sigma_2(\omega) showed a rapid increase in the low frequency limit owing to the fluctuation effect of superconductivity. For the films thinner than 300 nm, frequency and temperature dependences of fluctuation conductivity, \sigma(\omega,T), were successfully scaled onto one scaling function, which was consistent with the Aslamazov and Larkin model for two dimensional (2D) cases. For thicker films, \sigma(\omega,T) data could not be scaled, but indicated that the dimensional crossover from three dimensions (3D) to 2D occurred as the temperature approached Tc from above. This provides a good reference of ac fluctuation conductivity for more exotic superconductors of current interest.Comment: 8 pages, 7 Figures, 1 Table, Accepted for publication in PR

A quantitative model for IcR product in d-wave Josephson junctions

We study theoretically the Josephson effect in d-wave superconductor / diffusive normal metal /insulator/ diffusive normal metal/ d-wave superconductor (D/DN/I/DN/D) junctions. This model is aimed to describe practical junctions in high-$T_C$ cuprate superconductors, in which the product of the critical Josephson current ($I_C$) and the normal state resistance ($R$) (the so-called $I_{\rm C}R$ product) is very small compared to the prediction of the standard theory. We show that the $I_{\rm C}R$ product in D/DN/I/DN/D junctions can be much smaller than that in d-wave superconductor / insulator / d-wave superconductor junctions and formulate the conditions necessary to achieve large $I_{\rm C}R$ product in D/DN/I/DN/D junctions. The proposed theory describes the behavior of $I_{\rm C}R$ products quantitatively in high-$T_{\rm C}$ cuprate junctions.Comment: 4 pages, 6 figure

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

Leber congenital amaurosis (LCA) is a severe autosomal-recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus. Although most mutations in blindness genes are coding variations, there is accumulating evidence for hidden noncoding defects or structural variations (SVs). The starting point of this study was an LCA9-associated consanguineous family in which no coding mutations were found in the LCA9 region. Exploring the untranslated regions of NMNAT1 revealed a novel homozygous 5'UTR variant, c.-70A>T. Moreover, an adjacent 5'UTR variant, c.-69C>T, was identified in a second consanguineous family displaying a similar phenotype. Both 5'UTR variants resulted in decreased NMNAT1 mRNA abundance in patients' lymphocytes, and caused decreased luciferase activity in human retinal pigment epithelial RPE-1 cells. Second, we unraveled pseudohomozygosity of a coding NMNAT1 mutation in two unrelated LCA patients by the identification of two distinct heterozygous partial NMNAT1 deletions. Molecular characterization of the breakpoint junctions revealed a complex Alu-rich genomic architecture. Our study uncovered hidden genetic variation in NMNAT1-associated LCA and emphasized a shift from coding to noncoding regulatory mutations and repeat-mediated SVs in the molecular pathogenesis of heterogeneous recessive disorders such as hereditary blindness

Combination Therapy with Rituximab and Temozolomide for Recurrent and Refractory Primary Central Nervous System Lymphoma

High-dose methotrexate-based chemotherapy has extended survival in patients with primary central nervous system lymphoma (PCNSL). However, although salvage treatment is necessary in recurrent and refractory PCNSL, this has not been standardized. We herein describe the efficacy of a combination of rituximab and temozolomide (TMZ) in two consecutive patients with recurrent and refractory PCNSL. Based on the immunohistochemical study, case 1 had a non-germinal center B-cell-like (non-GCB) subtype, was positive for bcl-2 and negative for O6-methylguanine-DNA methyltransferase (MGMT). Case 2 was GCB subtype, bcl-2-, and MGMT+. Because of the positive expression of MGMT, interferon-beta was additionally given in case 2. Complete responses and partial responses were obtained after the third and fourth cycles of combination therapy, respectively. This was maintained for 12 months, with acceptable toxicity. The combination of rituximab and TMZ was effective in tumors with different immunohistochemical profiles. This combination therapy warrants further study in a larger population