MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma,early-onset cataracts and congenital glaucoma

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.     

Freie Gelenkk?rper im Kiefergelenk

Zusammenfassung Die Osteochondrosis dissecans (OD) und die synoviale Chondromatose (SC) des Kiefergelenks sind seltene Erkrankungen, die mit freien Gelenkkörpern einhergehen. Für die OD wird ursächlich eine traumatische Ursache angenommen. Bei der metaplastischen proliferativen SC lassen sich Gendefekte feststellen, die Chondrosarkomen ähnlich sind. Eine Ursache dieser Veränderungen ist bis dato nicht bekannt. Beide Erkrankungen sind in ihren klinischen Symptomen fast identisch. Präaurikuläre Schwellung, Gesichts- oder Kiefergelenkschmerzen und gelegentliche Kiefergelenkblockaden werden häufig von Patienten berichtet. Die bildgebende Diagnostik mittels Magnetresonanztomographie (MRT) bereitet Schwierigkeiten in der Differenzierung von OD und SC untereinander sowie gegenüber proliferativen intra- und periartikulären Veränderungen. Die Kiefergelenkarthroskopie bietet hier die einzige Möglichkeit einer in vivo-Beurteilung der Gelenkverhältnisse mit der Option einer histopathologischen Untersuchung. Therapeutisch kann so über eine Dissekatentfernung und Synovektomie bei SC sowie die ausschließliche Dissekatentfernung bei OD geurteilt werden.     

Antibacterial activity and inhibition against Staphylococcus aureus NorA efflux pump by ferulic acid and its esterified derivatives

Objective: To evaluate the inhibitory activity of ferulic acid and four of its esterified derivatives (methyl, ethyl, propyl, and butyl) against resistance mech...     

Construction of 0D/2D Schottky Heterojunctions of ZnO and Ti3C2 Nanosheets with the Enriched Transfer of Interfacial Charges for Photocatalytic Hydrogen Evolution

The development of cost-effective co-catalysts of high photocatalytic activity and recyclability is still a challenge in the energy transformation domain. In this study, 0D/2D Schottky heterojunctions, consisting of 0D ZnO and 2D Ti₃C₂, were successfully synthesized by the electrostatic self-assembling of ZnO nanoparticles on Ti₃C₂ nanosheets. In constructing these heterojunctions, Ti₃C₂ nanosheets acted as a co-catalyst for enhancing the transfer of excitons and their separation to support the photocatalytic response of ZnO. The as-prepared ZnO/Ti₃C₂ composites demonstrate an abbreviated charge transit channel, a huge interfacial contact area and the interfacial electrons’ transport potential. The extended optical response and large reactive area of the ZnO/Ti₃C₂ composite promoted the formation of excitons and reactive sites on the photocatalyst’s surface. The ZnO/Ti₃C₂ Schottky heterojunction showed significantly high photocatalytic activity for hydrogen production from a water–ethanol solution under the light illumination in the visible region. The hydrogen evolution overoptimized the ZnO/Ti₃C₂ composition with 30 wt.% of Ti₃C₂, which was eight times higher than the pristine ZnO. These findings can be helpful in developing 0D/2D heterojunction systems for photocatalytic applications by utilizing Ti₃C₂ as a low-cost co-catalyst.     

Transmission of Diverse Variants of Strawberry Viruses Is Governed by a Vector Species

Advances in high-throughput sequencing methods have boosted the discovery of multistrain viral infections in diverse plant systems. This phenomenon appears to be pervasive for certain viral species. However, our knowledge of the transmission aspects leading to the establishment of such mixed infections is limited. Recently, we reported a mixed infection of a single strawberry plant with strawberry mottle virus (SMoV), strawberry crinkle virus (SCV) and strawberry virus 1 (StrV-1). While SCV and StrV-1 are represented by two and three molecular variants, respectively, SmoV has three different RNA1 and RNA2 segments. In this study, we focus on virus acquisition by individual adult aphids of the Aphis gossypii, Aphis forbesi and Chaetosiphon fragaefolii species. Single-aphid transmission trials are performed under experimental conditions. Both different viruses and individual virus strains show varying performances in single aphid acquisition. The obtained data suggests that numerous individual transmission events lead to the establishment of multistrain infections. These data will be important for the development of epidemiological models in plant virology.     

Complications rate and pregnancy outcome in women who underwent early and mid trimester amniocentesis

OBJECTIVES: Evaluation of the complications rate, as well as pregnancy outcome, in women who underwent early and mid-trimester amniocentesis. MATERIAL AND METHODS: The study was conducted among 454 patients, including 162 women after the procedure performed before 15 gestational week and 292 patients who underwent classic amniocentesis. All patients were hospitalized in Division of Reproduction of University of Medical Sciences in Poznan between 1999 and 2005. The analysis, based both on clinical observations and questionnaire sent to patients, concerned especially the frequency of following complications: miscarriage, premature rupture of membranes and club foot in newborns. RESULTS: Total pregnancy loss rate due to amniocentesis amounted to 1.2% and 0.3% in early and mid-trimester amniocentesis, respectively, not reaching statistical significance. The frequency of club foot in newborns of mothers who underwent amniocentesis did not differ significantly between the groups, although it was four times higher in early amniocentesis group than in patients in whom mid-trimester amniocentesis had been performed. CONCLUSIONS: The safety of early amniocentesis is comparable with safety of mid-trimester amniocentesis.     

Acute myeloid leukemia: negative prognostic impact of early blast persistence can be in part overcome by a later remission prior to post-induction therapy

In acute myeloid leukemia, there is an ongoing debate on the prognostic value of the early bone marrow assessment in patients receiving intensive therapy. In this retrospective study, we analyzed the prognostic impact of the early response in 1,008 patients with newly diagnosed acute myeloid leukemia, who were treated at our institution with intensive chemotherapy followed by consolidation chemotherapy and/or allogeneic hematopoietic stem cell transplantation (HSCT). We found that early blast persistence has an independent negative prognostic impact on overall survival, event-free survival and relapse-free survival. This negative prognostic impact may only be overcome in patients showing at least a partial remission at the early bone marrow assessment and who subsequently achieve blast clearance by additional induction chemotherapy prior to consolidation therapy with allogeneic HSCT. In accordance, we propose that the time slope of remission is an additional leukemia-related dynamic parameter that reflects chemosensitivity and thus may inform post-induction therapy decision-making. In addition to patient-related factors, European LeukemiaNet risk group, measurable residual disease monitoring and donor availability, this may particularly apply to European LeukemiaNet intermediate-risk patients, for whom a decision between consolidation chemotherapy and allogeneic HSCT remains challenging in many cases.