The analysis of the electronic properties of strained or lattice deformed graphene combines ideas from classical condensed matter physics, soft matter, and geometrical aspects of quantum field theory ...(QFT) in curved spaces. Recent theoretical and experimental work shows the influence of strains in many properties of graphene not considered before, such as electronic transport, spin–orbit coupling, the formation of Moiré patterns and optics. There is also significant evidence of anharmonic effects, which can modify the structural properties of graphene. These phenomena are not restricted to graphene, and they are being intensively studied in other two dimensional materials, such as the transition metal dichalcogenides. We review here recent developments related to the role of strains in the structural and electronic properties of graphene and other two dimensional compounds.
Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction. In this ...STR1VE-EU study, we aimed to evaluate the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, using broader eligibility criteria than those used in STR1VE-US.
STR1VE-EU was a multicentre, single-arm, single-dose, open-label phase 3 trial done at nine sites (hospitals and universities) in Italy (n=4), the UK (n=2), Belgium (n=2), and France (n=1). We enrolled patients younger than 6 months (180 days) with spinal muscular atrophy type 1 and the common biallelic pathogenic SMN1 exon 7–8 deletion or point mutations, and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1·1 × 1014 vector genomes vg/kg). The outpatient follow-up consisted of assessments once per week starting at day 7 post-infusion for 4 weeks and then once per month until the end of the study (at age 18 months or early termination). The primary outcome was independent sitting for at least 10 s, as defined by the WHO Multicentre Growth Reference Study, at any visit up to the 18 months of age study visit, measured in the intention-to-treat population. Efficacy was compared with the Pediatric Neuromuscular Clinical Research (PNCR) natural history cohort. This trial is registered with ClinicalTrials.gov, NCT03461289 (completed).
From Aug 16, 2018, to Sept 11, 2020, 41 patients with spinal muscular atrophy were assessed for eligibility. The median age at onasemnogene abeparvovec dosing was 4·1 months (IQR 3·0–5·2). 32 (97%) of 33 patients completed the study and were included in the ITT population (one patient was excluded despite completing the study because of dosing at 181 days). 14 (44%, 97·5% CI 26–100) of 32 patients achieved the primary endpoint of functional independent sitting for at least 10 s at any visit up to the 18 months of age study visit (vs 0 of 23 untreated patients in the PNCR cohort; p<0·0001). 31 (97%, 95% CI 91–100) of 32 patients in the ITT population survived free from permanent ventilatory support at 14 months compared with six (26%, 8–44) of 23 patients in the PNCR natural history cohort (p<0·0001). 32 (97%) of 33 patients had at least one adverse event and six (18%) had adverse events that were considered serious and related to onasemnogene abeparvovec. The most common adverse events were pyrexia (22 67% of 33), upper respiratory infection (11 33%), and increased alanine aminotransferase (nine 27%). One death, unrelated to the study drug, occurred from hypoxic-ischaemic brain damage because of a respiratory tract infection during the study.
STR1VE-EU showed efficacy of onasemnogene abeparvovec in infants with symptomatic spinal muscular atrophy type 1. No new safety signals were identified, but further studies are needed to show long-term safety. The benefit–risk profile of onasemnogene abeparvovec seems favourable for this patient population, including those with severe disease at baseline.
Novartis Gene Therapies.
We analyze the interaction at the surface of a three-dimensional (3D) topological insulator among 2D electron states belonging to the Dirac cone close to the point of the Brillouin zone and the ...Rayleigh surface phonon mode. The model deals with an elastic continuum in the long-wavelength limit, in Random Phase Approximation (RPA). Screening of the electronic polarization is quite effective at small wave vectors. On the other hand, the absence of backscattering for the Dirac electrons at the Fermi surface is partly responsible for the reduced influence of the electron-phonon interaction in renormalizing the phonon dispersion at finite wave vectors. We infer that softening of the Rayleigh mode appears as unlikely, at least for the case of a clean and defect-free surface to which our approximate treatment applies. The dielectric response to virtual excitation of the Rayleigh phonon could drive the electron-electron interaction attractive at low frequencies, but the average weak coupling pairing interaction is found to be too small to induce a surface superconducting instability.
Pharmacological interventions that increase myofiber size counter the functional decline of dystrophic muscles. We show that deacetylase inhibitors increase the size of myofibers in ...dystrophin-deficient (MDX) and α-sarcoglycan (α-SG)-deficient mice by inducing the expression of the myostatin antagonist follistatin in satellite cells. Deacetylase inhibitor treatment conferred on dystrophic muscles resistance to contraction-coupled degeneration and alleviated both morphological and functional consequences of the primary genetic defect. These results provide a rationale for using deacetylase inhibitors in the pharmacological therapy of muscular dystrophies.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
The aim of this study was to identify risk factors for early-onset group B Streptococcus (EOGBS) disease in neonates of mothers with negative antenatal screening.
We performed a retrospective cohort ...study of neonates born to mothers with negative antenatal GBS screening between 2002 and 2012. Our primary outcome was EOGBS infection. We used multivariable logistic regression to assess factors associated with EOGBS.
EOGBS was confirmed in 492 of the 179 818 neonates that met the study inclusion criteria. Risk factors for EOGBS included black race (reference: white, odds ratio (OR) =1.81 (95% confidence interval: 1.43, 2.31)), maternal age <18 years (reference: >35 years, OR=2.63 (1.54, 4.51)) and maternal age 18 to 35 years (reference: >35 years, OR=1.94 (1.30, 2.88)).
Maternal age <18 years and black race were the strongest predictors of EOGBS. Further research investigating contributors to the discordance between screening results and neonatal outcomes in these populations is needed.
This article describes a novel minimally invasive technique for bilateral sagittal split osteotomy (BSSO) that aims to reduce surgical trauma while maintaining bone overlap and rigid internal ...fixation for proper consolidation of the bone segments. The technique involves a small vestibular mucoperiosteal incision made on the lateral aspect of the mandible between the first and second molars, enabling a standard ramus split, surgical segment movement, and miniplate fixation. A retrospective evaluation of 67 consecutive patients who underwent BSSO using this protocol showed favorable split of the mandible with no unfavorable splits or non-union. Patients were discharged from hospital within an average of 17 h with minimal postoperative complications. This technique provides good surgical visualization with a very small incision and allows standard BSSO surgery without difficulty.
This article reports the first occurrence of
(Rudolphi, 1819)
(Digenea: Rhytidodidae) in the olive-ridley turtle
(Testudines: Chelonidae), in an individual found in the State of Sergipe, Brazil. ...Although
has already been described in other species of sea turtles in the world, this is the first report of this parasite in
. We also present a list of hosts and locations where this helminth has already been identified.
Summary
1. The red‐swamp crayfish (Procambarus clarkii) is an invasive species and an important pest of wet‐seeded rice fields (Oryza sativa) in California (U.S.A.) and in Portugal. Our work ...quantifies rice consumption and non‐consumptive destruction and identifies the types of direct damage inflicted by crayfish.
2. The following fractions were quantified in the presence and absence of crayfish and at 3 and 6 days of rice development: (1) non‐germinated seeds, (2) damaged seeds, (3) seeds not recovered, (4) intact rooted seedlings, (5) rooted damaged seedlings, (6) uprooted intact seedlings, (7) uprooted damaged seedlings.
3. Coarse particulate organic matter (CPOM) fragments produced during the feeding process were <2% of the material removed by crayfish.
4. Damage occurred with or without uprooting of the plants, but the incidence of uprooting without consumption was low (1.4%).
5. Consumption of recently developed parts of the rice plant was the main cause of damage and the observed effect was stronger on 6‐day‐old than on 3‐day‐old seedlings. Seedlings were more affected by crayfish than were seeds.
6. Crayfish affected the majority of seeds and seedlings available although consumption was low: 0.015 g dry weight (DW) rice g−1 wet weight (WW) crayfish per 12 h at 3 days and 0.063 g DW rice g−1 WW crayfish per 12 h at 6 days.
7. Our results are important for the mitigation of crayfish related problems in rice fields and for understanding the mechanisms of crayfish‐macrophyte interactions.
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