551 research outputs found
Zigzag-shaped nickel nanowires via organometallic template-free route
In this manuscript, the formation of nickel nanowires (average size: several tens to hundreds of μm long
and 1.0-1.5 μm wide) at low temperature is found to be driven by dewetting of liquid organometallic
precursors during spin coating process and by self-assembly of Ni clusters. Elaboration of metallic thin
films by low temperature deposition technique makes the preparation process compatible with most of the
substrates. The use of iron and cobalt precursor shows that the process could be extended to other metallic
systems. In this work, AFM and SEM are used to follow the assembly of Ni clusters into straight or
zigzag lines. The formation of zigzag structure is specific to the Ni precursor at appropriate preparation
parameters. This template free process allows a control of anisotropic structures with homogeneous sizes
and angles on standard Si/SiO2 surface
Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
The ribosome is an evolutionarily conserved organelle essential for cellular function. Ribosome construction requires assembly of approximately 80 different ribosomal proteins (RPs) and four different species of rRNA. As RPs co-assemble into one multi-subunit complex, mutation of the genes that encode RPs might be expected to give rise to phenocopies, in which the same phenotype is associated with loss-of-function of each individual gene. However, a more complex picture is emerging in which, in addition to a group of shared phenotypes, diverse RP gene-specific phenotypes are observed. Here we report the first two mouse mutations (Rps7(Mtu) and Rps7(Zma)) of ribosomal protein S7 (Rps7), a gene that has been implicated in Diamond-Blackfan anemia. Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations. These phenotypes are reported in other murine RP mutants and, as demonstrated for some other RP mutations, are ameliorated by Trp53 deficiency. Interestingly, Rps7 mutants have additional overt malformations of the developing central nervous system and deficits in working memory, phenotypes that are not reported in murine or human RP gene mutants. Conversely, Rps7 mouse mutants show no anemia or hyperpigmentation, phenotypes associated with mutation of human RPS7 and other murine RPs, respectively. We provide two novel RP mouse models and expand the repertoire of potential phenotypes that should be examined in RP mutants to further explore the concept of RP gene-specific phenotypes.This research was supported in part by the Intramural Research Program of NHGRI, NIH, and the Wellcome Trust and by NHMRC Australia grant 366746.
The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Sugammadex is effective in reversing rocuronium in the presence of antibiotics
Background: The effectiveness of sugammadex in reversing rocuronium-induced neuromuscular blockade (NMB) in the presence of drugs that may potentiate NMB remains to be fully established. The aim of this post-hoc analysis of data from a Phase III clinical trial (VISTA; NCT00298831) was to investigate the impact of antibiotics on recovery from rocuronium-induced NMB after administration of sugammadex for reversal, and compared the neuromuscular recovery in patients who received antibiotics preoperatively with those who did not.Methods: A Phase III, multicenter, open-label study designed to reflect potential use of sugammadex in clinical practice was conducted at 19 sites. Data obtained from patients who received antibiotics were compared with the cohort of patients who underwent the same protocol without antibiotics. Each subject received rocuronium 0.6 mg/kg for muscle relaxation, after which tracheal intubation was performed; patients were also permitted to receive maintenance doses of rocuronium 0.15 mg/kg to maintain the desired level of NMB throughout the operation, as required. At least 15 min after the last rocuronium dose, patients received sugammadex 4.0 mg/kg for reversal. Neuromuscular monitoring was continued until a train-of-four (TOF) ratio of ≥0.9 was achieved or the anesthetic was discontinued.Results: The presence of antibiotics prior to the administration of sugammadex did not affect the recovery time from rocuronium-induced NMB when sugammadex 4.0 mg/kg was administered at least 15 min after the last dose of rocuronium. In the presence of antibiotics, the geometric mean (95% CI) time from administration of sugammadex 4.0 mg/kg to recovery of the TOF ratio to ≥0.9 was 1.6 (1.4-1.9) min (range: 0.7-10.5 min), compared with 2.0 (1.8-2.3) min (range: 0.7-22.3 min) for patients who did not receive antibiotics.Conclusions: These findings suggest that prophylactic antibiotic use is unlikely to have a major impact on the recovery time from rocuronium-induced NMB with sugammadex reversal.Trial registration: ClinicalTrials.gov Identifier: NCT00298831
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases
Short-term in-season ballistic training improves power, muscle volume and throwing velocity in junior handball players. A randomized control trial
This study investigated the effects of a ballistic training programme using an arm/shoulder specific strength device (ASSSD) on the upper body peak power (PP), muscle volume (MV) of the dominant arm and throwing velocity in junior handball players. Twenty-six players were randomly assigned to an experimental (EG = 15, age 17.6 ± 0.51 years) and control (CG = 11, age 17.36 ± 0.50 years) group. Over an 8-week in-season period, the EG performed a ballistic training programme (2 sessions/week) immediately before their normal team handball training. Both groups underwent tests on the ASSSD, which operates in consecutive accelerative and decelerative actions, for throwing characteristics determination. Peak power (PP), peak force (PF), peak velocity (PV), peak rate of power development (PRPD), muscle volume (MV), throwing velocity with run-up, standing throw, and jump throw were also assessed before/after the training programme. The EG group showed significant post-training improvements in PP (52.50% – p < 0.001), PF (26.45% – p < 0.01) and PRPD (78.47% – p < 0.001) better than the CG (1.81, 0.67 and 1.64%, p > 0.05, respectively). There was also a post-training improvement in the velocity at PP (22.82% – p < 0.001) and PF (42.45% – p < 0.001) in the EG compared to the CG (4.18 and 8.53%, p > 0.05 respectively). There was a significant increase in acceleration at PP (51.50% – p < 0.01) and PF (69.67% – p < 0.001). MV increased (19.11% – p < 0.001) in the EG, with no significant change (3.34% – p = 0.84) in the CG. Finally, significant increases were obtained in the three throw types (3.1–6.21%, p < 0.05- < 0.001) in the EG compared to the CG. The additional ASSSD training protocol was able to improve muscle strength/volume and ball throwing velocity in junior handball players
A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)
Meeting abstrac
Differentially activated macrophages orchestrate myogenic precursor cell fate during human skeletal muscle regeneration
Macrophages (MPs) exert either beneficial or deleterious effects on tissue repair, depending on their activation/ polarization state. They are crucial for adult skeletal muscle repair, notably by acting on myogenic precursor cells. However, these interactions have not been fully characterized. Here, we explored both in vitro and in vivo, in human, the interactions of differentially activated MPs with myogenic precursor cells (MPCs) during adult myogenesis and skeletal muscle regeneration. We showed in vitro that through the differential secretion of cytokines and growth factors, proinflammatory MPs inhibited MPC fusion while anti-inflammatory MPs strongly promoted MPC differentiation by increasing their commitment into differentiated myocytes and the formation of mature myotubes. Furthermore, the in vivo time course of expression of myogenic and MP markers was studied in regenerating human healthy muscle after damage. We observed that regenerating areas containing proliferating MPCs were preferentially associated with MPs expressing proinflammatory markers. In the same muscle, regenerating areas containing differentiating myogenin-positive MPCs were preferentially coupled to MPs harboring anti-inflammatory markers. These data demonstrate for the first time in human that MPs sequentially orchestrate adult myogenesis during regeneration of damaged skeletal muscle. These results support the emerging concept that inflammation, through MP activation, controls stem cell fate and coordinates tissue repair
Spindle cell oncocytoma of the adenohypophysis in a woman: a case report and review of the literature
<p>Abstract</p> <p>Introduction</p> <p>Spindle cell oncocytoma of the adenohypophysis is a rare tumour recently reported by Roncaroli <it>et al. </it>in 2002. This tumour is considered a grade I tumour by the World Health Organization.</p> <p>Case presentation</p> <p>We describe what is, to the best of our knowledge, the 14th case of its kind in the literature. A 45-year-old African woman presented clinical and radiological findings related to a nonfunctioning pituitary adenoma. The diagnosis was made on the basis of histological and immunohistochemical findings.</p> <p>Conclusion</p> <p>The purpose of this work is to report a rare pituitary tumour and to describe its histological and immunohistochemical features, which were characterized by the expression of thyroid transcription factor 1 antigen by tumour cells. This fact could support the theory of a possible common origin of these tumours in pituicytomas. In fact, thyroid transcription factor 1 is considered to be a specific marker of pituicytes.</p
Detection of cytokeratins 19/20 and guanylyl cyclase C in peripheral blood of colorectal cancer patients
The clinical significance of detecting supposed tumour cell-derived mRNA transcripts in blood using the polymerase chain reaction (PCR) remains unclear. We have used a fully quantitative 5′-nuclease RT-PCR assay to screen for the expression of cytokeratins (ck) 19 and 20 and guanylyl cyclase C (GCC) in the peripheral blood of 21 healthy controls and 27 colorectal cancer patients. Expression of cytokeratin 19 and 20 mRNA was detected in 30% and 100% of samples, respectively, taken from healthy volunteers. There was no apparent difference in ck19 and ck20 mRNA transcription levels between controls and patients, or between patients with different Dukes' stages. While GCC mRNA was detected in only 1/21 control samples, it was expressed in approximately 80% of patients, although again there was no correlation between GCC levels and disease stage. Transcription levels of all three markers varied considerably between samples, even between samples taken from the same person at different times. We conclude that neither ck19 nor ck20 are reliable markers for the detection of colon epithelial cells in peripheral blood and that an evaluation of the usefulness of GCC awaits further longitudinal studies. © 1999 Cancer Research Campaig
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